2 CDBP00001 5'-nucleotidase P21589 5NTD_HUMAN true false Enzyme Homo_sapiens NT5E 574 57948.125 6.973 Involved in hydrolase activity Hydrolyzes extracellular nucleotides into membrane permeable nucleosides. 4H1S;4H1Y;4H2B;4H2F;4H2G;4H2I X55740 23897 NT5E 6 6q14-q21 NT5E HGNC:8021 true hsa:4907 NP_001191742.1:NM_001204813.1;NP_002517.1:NM_002526.3 Zinc Homodimer; disulfide-linked 2020-06-12T21:32:00Z 2020-07-28T02:24:44Z 0 1 0 3 CDBP00002 Deoxycytidylate deaminase P32321 DCTD_HUMAN true false Enzyme Homo_sapiens DCTD 178 21013.96 7.526 Involved in zinc ion binding Supplies the nucleotide substrate for thymidylate synthetase. 2W4L NM_001921.2 61742819 DCTD 4 4q35.1 DCTD HGNC:2710 true hsa:1635 NP_001012750.1:NM_001012732.1;NP_001912.2:NM_001921.2 Zinc Homohexamer 2020-06-12T23:04:27Z 2020-07-28T02:24:44Z 0 1 0 4 CDBP00003 UMP-CMP kinase P30085 KCY_HUMAN true false Enzyme Homo_sapiens CMPK1 196 20180.12 7.631 Involved in ATP binding Catalyzes specific phosphoryl transfer from ATP to UMP and CMP. 1TEV AF087865 33150592 CMPK1 1 1p32 CMPK1 HGNC:18170 true hsa:51727 HS08663-MONOMER NP_001129612.1:NM_001136140.1;NP_057392.1:NM_016308.2 Ubiquitously expressed. Magnesium 2020-06-12T23:06:47Z 2020-07-28T02:24:44Z 0 0 0 5 CDBP00004 Cytosolic 5'-nucleotidase 1B Q96P26 5NT1B_HUMAN true false Enzyme Homo_sapiens NT5C1B 610 68803.055 8.817 Involved in nucleotide binding Dephosphorylates the 5' and 2'(3')-phosphates of deoxyribonucleotides. Helps to regulate adenosine levels (By similarity). NM_001002006.2 50593110 NT5C1B 2 2p24.2 NT5C1B HGNC:17818 true hsa:93034 NP_001002006.1:NM_001002006.2;NP_001186015.1:NM_001199086.1;NP_001186016.1:NM_001199087.1;NP_001186017.1:NM_001199088.1;NP_001186033.1:NM_001199104.1;NP_150278.2:NM_033253.3 Highly expressed in testis, placenta and pancreas. Detected at lower levels in heart, kidney, liver and lung. Magnesium 2020-06-12T23:06:47Z 2020-07-28T02:24:44Z 0 1 0 6 CDBP00005 Cytosolic 5'-nucleotidase 1A Q9BXI3 5NT1A_HUMAN true false Enzyme Homo_sapiens NT5C1A 368 41020.145 6.547 Involved in nucleotide binding Dephosphorylates the 5' and 2'(3')-phosphates of deoxyribonucleotides and has a broad substrate specificity. Helps to regulate adenosine levels in heart during ischemia and hypoxia. AF331801 12659324 NT5C1A 1 1p34.3-p33 NT5C1A HGNC:17819 true hsa:84618 HS04074-MONOMER NP_115915.1:NM_032526.1 Highly expressed in skeletal muscle. Detected at intermediate levels in heart, brain, kidney and pancreas. Magnesium 2020-06-12T23:06:47Z 2020-07-28T02:24:44Z 0 1 0 7 CDBP00006 5'(3')-deoxyribonucleotidase, cytosolic type Q8TCD5 NT5C_HUMAN true false Enzyme Homo_sapiens NT5C 201 Involved in metal ion binding Dephosphorylates the 5' and 2'(3')-phosphates of deoxyribonucleotides, with a preference for dUMP and dTMP, intermediate activity towards dGMP, and low activity towards dCMP and dAMP. 2I7D AF154829 7524492 NT5C HGNC:17144 true hsa:30833 NP_001239306.1:NM_001252377.1;NP_055410.1:NM_014595.2 Detected in skeletal muscle, heart and pancreas. Magnesium Homodimer 2020-06-12T23:06:47Z 2020-07-28T02:24:44Z 0 1 0 8 CDBP00007 Deoxycytidine kinase P27707 DCK_HUMAN true false Enzyme Homo_sapiens DCK 260 30518.315 5.209 Involved in ATP binding Required for the phosphorylation of the deoxyribonucleosides deoxycytidine (dC), deoxyguanosine (dG) and deoxyadenosine (dA). Has broad substrate specificity, and does not display selectivity based on the chirality of the substrate. It is also an essential enzyme for the phosphorylation of numerous nucleoside analogs widely employed as antiviral and chemotherapeutic agents. 1P5Z;1P60;1P61;1P62;2A2Z;2A30;2A7Q;2NO0;2NO1;2NO6;2NO7;2NO9;2NOA;2QRN;2QRO;2ZI3;2ZI4;2ZI5;2ZI6;2ZI7;2ZI9;2ZIA;3HP1;3IPX;3IPY;3KFX;3MJR;3QEJ;3QEN;3QEO M60527 DCK 4 4q13.3-q21.1 DCK HGNC:2704 true hsa:1633 NP_000779.1:NM_000788.2 Homodimer 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 9 CDBP00008 5'(3')-deoxyribonucleotidase, mitochondrial Q9NPB1 NT5M_HUMAN true false Enzyme Homo_sapiens NT5M 228 Involved in phosphatase activity Dephosphorylates specifically the 5' and 2'(3')-phosphates of uracil and thymine deoxyribonucleotides, and so protects mitochondrial DNA replication from excess dTTP. Has only marginal activity towards dIMP and dGMP. 1MH9;1Q91;1Q92;1Z4I;1Z4J;1Z4K;1Z4L;1Z4M;1Z4P;1Z4Q;2JAU;2JAW AF210652 NT5M NT5M HGNC:15769 true hsa:56953 NP_064586.1:NM_020201.3 Highly expressed in heart, brain and skeletal muscle. Detected at very low levels in kidney and pancreas. Magnesium Homodimer (Probable) 2020-06-12T23:06:47Z 2020-07-28T02:24:44Z 0 1 0 10 CDBP00009 Hydroxymethylglutaryl-CoA lyase, mitochondrial P35914 HMGCL_HUMAN true false Enzyme Homo_sapiens HMGCL 325 34359.84 8.545 Involved in catalytic activity Key enzyme in ketogenesis (ketone body formation). Terminal step in leucine catabolism. 2CW6;3MP3;3MP4;3MP5 BC010570 14714839 HMGCL 1 1p36.1-p35 HMGCL HGNC:5005 true hsa:3155 HS04116-MONOMER NP_000182.2:NM_000191.2;NP_001159531.1:NM_001166059.1 Fibroblasts, liver and lymphoblasts. Divalent metal cations Homodimer; disulfide-linked. Can also form homotetramers 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 11 CDBP00010 ATP-citrate synthase P53396 ACLY_HUMAN true false Enzyme Homo_sapiens ACLY 1101 120838.27 7.323 Involved in ATP citrate synthase activity ATP citrate-lyase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. Has a central role in de novo lipid synthesis. In nervous tissue it may be involved in the biosynthesis of acetylcholine. 3MWD;3MWE;3PFF BC006195 13623199 ACLY 17 17q21.2 ACLY HGNC:115 true hsa:47 NP_001087.2:NM_001096.2;NP_942127.1:NM_198830.1 Homotetramer 2020-06-12T23:06:47Z 2020-07-28T02:24:45Z 0 1 0 12 CDBP00011 Histone acetyltransferase p300 Q09472 EP300_HUMAN true false Enzyme Homo_sapiens EP300 2414 264159.725 8.493 Involved in transcription cofactor activity Functions as histone acetyltransferase and regulates transcription via chromatin remodeling. Acetylates all four core histones in nucleosomes. Histone acetylation gives an epigenetic tag for transcriptional activation. Mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. Also functions as acetyltransferase for nonhistone targets. Acetylates 'Lys-131' of ALX1 and acts as its coactivator in the presence of CREBBP. Acetylates SIRT2 and is proposed to indirectly increase the transcriptional activity of TP53 through acetylation and subsequent attenuation of SIRT2 deacetylase function. Acetylates HDAC1 leading to its inactivation and modulation of transcription. Acts as a TFAP2A-mediated transcriptional coactivator in presence of CITED2. Plays a role as a coactivator of NEUROD1-dependent transcription of the secretin and p21 genes and controls terminal differentiation of cells in the intestinal epithelium. Promotes cardiac myocyte enlargement. Can also mediate transcriptional repression. Binds to and may be involved in the transforming capacity of the adenovirus E1A protein. In case of HIV-1 infection, it is recruited by the viral protein Tat. Regulates Tat's transactivating activity and may help inducing chromatin remodeling of proviral genes. Acetylates FOXO1 and enhances its transcriptional activity. 1L3E;1P4Q;2K8F;3BIY;3I3J;3IO2;3P57;3T92 AL035658 56202870 EP300 22 22q13.2 EP300 HGNC:3373 true hsa:2033 NP_001420.2:NM_001429.3 Interacts with phosphorylated CREB1 . Interacts with HIF1A; the interaction is stimulated in response to hypoxia and inhibited by CITED2. Interacts (via N-terminus) with TFAP2A (via N-terminus); the interaction requires CITED2. Interacts (via CH1 domain) with CITED2 (via C-terminus). Interacts with CITED1 (unphosphorylated form preferentially and via C-terminus). Interacts with ESR1; the interaction is estrogen-dependent and enhanced by CITED1. Interacts with DTX1, EID1, ELF3, FEN1, LEF1, NCOA1, NCOA6, NR3C1, PCAF, PELP1, PRDM6, SP1, SP3, SPIB, SRY, TCF7L2, TP53, DDX5, DDX17, SATB1, SRCAP, TTC5, JMY and TRERF1. The TAZ-type 1 domain interacts with HIF1A. Probably part of a complex with HIF1A and CREBBP. Part of a complex containing CARM1 and NCOA2/GRIP1. Interacts with ING4 and this interaction may be indirect. Interacts with ING5. Interacts with the C-terminal region of CITED4. Interacts with HTLV-1 Tax and p30II. Interacts with and acetylates HIV-1 Tat. Non-sumoylated EP300 preferentially interacts with SENP3. Interacts with SS18L1/CREST. Interacts with ALX1 (via homeobox domain). Interacts with NEUROD1; the interaction is inhibited by NR0B2. Interacts with TCF3. Interacts (via CREB-binding domain) with MYOCD (via C-terminus) (By similarity). Binds to HIPK2 (By similarity). Interacts with ROCK2 and PPARG. Forms a complex made of CDK9, CCNT1/cyclin-T1, EP300 and GATA4 that stimulates hypertrophy in cardiomyocytes. Interacts with IRF1 and this interaction enhances acetylation of p53/TP53 and stimulation of its activity. Interacts with FOXO1; the interaction acetylates FOXO1 and enhances its transcriptional activity. Interacts with DDIT3/CHOP 2020-06-12T23:06:47Z 2020-07-28T02:24:45Z 1 1 1 13 CDBP00012 Pyruvate dehydrogenase E1 component subunit beta, mitochondrial P11177 ODPB_HUMAN true false Enzyme Homo_sapiens PDHB 359 39233.1 6.647 Involved in catalytic activity The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle. 1NI4;2OZL;3EXE;3EXF;3EXG;3EXH;3EXI AK313022 189053605 PDHB 3 3p21.1-p14.2 PDHB HGNC:8808 true hsa:5162 HS09727-MONOMER NP_000916.2:NM_000925.3;NP_001166939.1:NM_001173468.1 Thiamine pyrophosphate Heterotetramer of two PDHA1 and two PDHB subunits. The heterotetramer interacts with DLAT, and is part of the multimeric pyruvate dehydrogenase complex that contains multiple copies of pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (DLAT, E2) and lipoamide dehydrogenase (DLD, E3). These subunits are bound to an inner core composed of about 48 DLAT and 12 PDHX molecules 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 14 CDBP00013 Acetyl-CoA acetyltransferase, cytosolic Q9BWD1 THIC_HUMAN true false Enzyme Homo_sapiens ACAT2 397 41350.5 6.918 Involved in transferase activity, transferring acyl groups other than amino-acyl groups 1WL4;1WL5 AF356877 19880019 ACAT2 6 6q25.3 ACAT2 HGNC:94 true hsa:39 ENSG00000120437-MONOMER NP_005882.2:NM_005891.2 Homotetramer 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 15 CDBP00014 CREB-binding protein Q92793 CBP_HUMAN false false Enzyme Homo_sapiens CREBBP 2442 260991.825 8.475 Involved in transcription cofactor activity Acetylates histones, giving a specific tag for transcriptional activation. Also acetylates non-histone proteins, like NCOA3 and FOXO1. Binds specifically to phosphorylated CREB and enhances its transcriptional activity toward cAMP-responsive genes. Acts as a coactivator of ALX1 in the presence of EP300. 1JSP;1LIQ;1WO3;1WO4;1WO5;1WO6;1WO7;1ZOQ;2D82;2KJE;2KWF;2L84;2L85;2RNY;3DWY;3P1C;3P1D;3P1E;3P1F;3SVH;4A9K U85962 68533141 CREBBP 16 16p13.3 CREBBP HGNC:2348 true hsa:1387 NP_001073315.1:NM_001079846.1;NP_004371.2:NM_004380.2 Found in a complex containing NCOA2; NCOA3; IKKA; IKKB and IKBKG. Probably part of a complex with HIF1A and EP300. Interacts with GATA1; the interaction results in acetylation and enhancement of transcriptional activity of GATA1. Interacts with MAF AND ZCCHC12. Interacts with DAXX; the interaction is dependent on CBP sumoylation and results in suppression of the transcriptional activiy via recruitment of HDAC2 to DAAX . Interacts with phosphorylated CREB1. Interacts with CITED4 (C-terminal region). Interacts (via the TAZ-type 1 domain) with HIF1A. Interacts with SRCAP, CARM1, ELF3, MLLT7/FOXO4, N4BP2, NCOA1, NCOA3, NCOA6, PCAF, DDX5, DDX17, PELP1, PML, SMAD1, SMAD2, SMAD3, SPIB and TRERF1. Interacts with HTLV-1 Tax and p30II. Interacts with HIV-1 Tat. Interacts with KLF1; the interaction results in acetylation of KLF1 and enhancement of its transcriptional activity. Interacts with MTDH. Interacts with NFATC4. Interacts with MAFG; the interaction acetylates MAFG in the basic region and stimulates NFE2 transcriptional activity through increasing its DNA-binding activity. Interacts with IRF2; the interaction acetylates IRF2 and regulates its activity on the H4 promoter. Interacts (via N-terminus) with SS18L1/CREST (via C-terminus). Interacts with MECOM. Interacts with CITED1 (via C-terminus). Interacts with FOXO1; the interaction acetylates FOXO1 and inhibits its transcriptional activity 2020-06-12T23:06:47Z 2020-07-28T02:33:08Z 0 1 1 16 CDBP00015 Diamine acetyltransferase 2 Q96F10 SAT2_HUMAN true false Enzyme Homo_sapiens SAT2 170 19154.905 6.037 Involved in N-acetyltransferase activity Enzyme which catalyzes the acetylation of polyamines. Substrate specificity: norspermidine > spermidine = spermine >> N(1)acetylspermine = putrescine. 2BEI;2Q4V AF348524 SAT2 17 17p13.1 SAT2 HGNC:23160 true hsa:112483 NP_597998.1:NM_133491.3 Widely expressed. Homodimer 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 17 CDBP00016 Malonyl-CoA decarboxylase, mitochondrial O95822 DCMC_HUMAN true false Enzyme Homo_sapiens MLYCD 493 55002.94 8.959 Involved in malonyl-CoA decarboxylase activity Catalyzes the conversion of malonyl-CoA to acetyl-CoA. In the fatty acid biosynthesis MCD selectively removes malonyl-CoA and thus assures that methyl-malonyl-CoA is the only chain elongating substrate for fatty acid synthase and that fatty acids with multiple methyl side chains are produced. In peroxisomes it may be involved in degrading intraperoxisomal malonyl-CoA, which is generated by the peroxisomal beta-oxidation of odd chain-length dicarboxylic fatty acids. 2YGW AF090834 5732237 MLYCD 16 16q24 MLYCD HGNC:7150 true hsa:23417 NP_036345.2:NM_012213.2 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 18 CDBP00017 5-aminolevulinate synthase, erythroid-specific, mitochondrial P22557 HEM0_HUMAN true false Enzyme Homo_sapiens ALAS2 587 64632.86 8.116 Involved in 5-aminolevulinate synthase activity AF068624 3220249 ALAS2 X Xp11.21 ALAS2 HGNC:397 true hsa:212 NP_000023.2:NM_000032.4;NP_001033056.1:NM_001037967.3 Erythroid specific. Pyridoxal phosphate Homodimer. Interacts with SUCLA2 2020-06-12T23:06:47Z 2020-07-28T02:24:46Z 0 0 0 19 CDBP00018 Acetyl-CoA carboxylase 2 O00763 ACACB_HUMAN true false Enzyme Homo_sapiens ACACB 2458 276538.575 6.488 Involved in acetyl-CoA carboxylase activity ACC-beta may be involved in the provision of malonyl-CoA or in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. Carries out three functions: biotin carboxyl carrier protein, biotin carboxylase and carboxyltransferase. 2DN8;2HJW;2KCC;3FF6;3GID;3GLK;3JRW;3JRX;3TDC NM_001093.3 134142062 ACACB 12 12q24.11 ACACB HGNC:85 true hsa:32 NP_001084.3:NM_001093.3 Predominantly expressed in the heart, skeletal muscles and liver. Biotin;manganese ions Monomer, homodimer, and homotetramer. Can form filamentous polymers. Interacts with MID1IP1; interaction with MID1IP1 promotes oligomerization and increases its activity 2020-06-12T23:06:47Z 2020-07-28T02:24:46Z 0 1 0 20 CDBP00019 Pyruvate carboxylase, mitochondrial P11498 PYC_HUMAN true false Enzyme Homo_sapiens PC 1178 129632.565 6.841 Involved in catalytic activity Pyruvate carboxylase catalyzes a 2-step reaction, involving the ATP-dependent carboxylation of the covalently attached biotin in the first step and the transfer of the carboxyl group to pyruvate in the second. Catalyzes in a tissue specific manner, the initial reactions of glucose (liver, kidney) and lipid (adipose tissue, liver, brain) synthesis from pyruvate. 3BG3;3BG9 U04641 458236 PC 11 11q13.4-q13.5 PC HGNC:8636 true hsa:5091 NP_000911.2:NM_000920.3;NP_001035806.1:NM_001040716.1;NP_071504.2:NM_022172.2 Biotin;manganese ion Homotetramer 2020-06-12T23:06:47Z 2020-07-28T02:24:46Z 0 1 0 21 CDBP00020 Arylamine N-acetyltransferase 1 P18440 ARY1_HUMAN true false Enzyme Homo_sapiens NAT1 290 33898.445 6.537 Involved in acetyltransferase activity Participates in the detoxification of a plethora of hydrazine and arylamine drugs. Catalyzes the N- or O-acetylation of various arylamine and heterocyclic amine substrates and is able to bioactivate several known carcinogens. 2DSS;2GWU;2IJA;2PQT AF008204 2258431 NAT1 8 8p22 NAT1 HGNC:7645 true hsa:9 NP_000653.3:NM_000662.5;NP_001153642.1:NM_001160170.1;NP_001153643.1:NM_001160171.1;NP_001153644.1:NM_001160172.1;NP_001153645.1:NM_001160173.1;NP_001153646.1:NM_001160174.1;NP_001153651.1:NM_001160179.1 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 22 CDBP00021 Arylamine N-acetyltransferase 2 P11245 ARY2_HUMAN true false Enzyme Homo_sapiens NAT2 290 33570.245 5.86 Involved in acetyltransferase activity Participates in the detoxification of a plethora of hydrazine and arylamine drugs. Catalyzes the N- or O-acetylation of various arylamine and heterocyclic amine substrates and is able to bioactivate several known carcinogens. 2PFR AF042740 2801807 NAT2 8 8p22 NAT2 HGNC:7646 true hsa:10 NP_000006.2:NM_000015.2 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 23 CDBP00022 5-aminolevulinate synthase, nonspecific, mitochondrial P13196 HEM1_HUMAN true false Enzyme Homo_sapiens ALAS1 640 70580.325 8.449 Involved in 5-aminolevulinate synthase activity X56351 28583 ALAS1 3 3p21.1 ALAS1 HGNC:396 true hsa:211 NP_000679.1:NM_000688.5;NP_954635.1:NM_199166.2 Pyridoxal phosphate Homodimer 2020-06-12T23:06:47Z 2020-07-28T02:24:46Z 0 0 0 24 CDBP00023 General transcription factor 3C polypeptide 4 Q9UKN8 TF3C4_HUMAN true false Enzyme Homo_sapiens GTF3C4 822 91981.635 6.656 Involved in DNA binding Essential for RNA polymerase III to make a number of small nuclear and cytoplasmic RNAs, including 5S RNA, tRNA, and adenovirus-associated (VA) RNA of both cellular and viral origin. Has histone acetyltransferase activity (HAT) with unique specificity for free and nucleosomal H3. May cooperate with GTF3C5 in facilitating the recruitment of TFIIIB and RNA polymerase through direct interactions with BRF1, POLR3C and POLR3F. May be localized close to the A box. AF142328 6175593 GTF3C4 9 9q34.13 GTF3C4 HGNC:4667 true hsa:9329 NP_036336.2:NM_012204.2 Part of the TFIIIC subcomplex TFIIIC2, consisting of six subunits, GTF3C1, GTF3C2, GTF3C3, GTF3C4, GTF3C5 and GTF3C6. Interacts with BRF1, GTF3C1, GTF3C2, GTF3C5, GTF3C6, POLR3C and POLR3F 2020-06-12T23:06:47Z 2020-07-28T02:24:46Z 0 0 1 25 CDBP00024 Acyl-coenzyme A thioesterase 12 Q8WYK0 ACO12_HUMAN true false Enzyme Homo_sapiens ACOT12 555 62033.46 6.77 Lipid transport and metabolism Hydrolyzes acetyl-CoA to acetate and CoA. 3B7K AB078619 18307694 ACOT12 5 5q14.1 ACOT12 HGNC:24436 true hsa:134526 NP_570123.1:NM_130767.2 Homodimer or homotetramer 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 26 CDBP00025 Choline O-acetyltransferase P28329 CLAT_HUMAN true false Enzyme Homo_sapiens CHAT 748 70425.285 7.972 Involved in acyltransferase activity Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses. 2FY2;2FY3;2FY4;2FY5 NM_020549.4 188595670 CHAT 10 10q11.2 CHAT HGNC:1912 true hsa:1103 NP_001136401.1:NM_001142929.1;NP_001136405.1:NM_001142933.1;NP_001136406.1:NM_001142934.1;NP_065574.3:NM_020549.4;NP_066264.3:NM_020984.3;NP_066265.3:NM_020985.3;NP_066266.3:NM_020986.3 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 27 CDBP00026 Nuclear receptor coactivator 3 Q9Y6Q9 NCOA3_HUMAN true false Enzyme Homo_sapiens NCOA3 1424 154399.59 7.286 Involved in transcription coactivator activity Nuclear receptor coactivator that directly binds nuclear receptors and stimulates the transcriptional activities in a hormone-dependent fashion. Plays a central role in creating a multisubunit coactivator complex, which probably acts via remodeling of chromatin. Involved in the coactivation of different nuclear receptors, such as for steroids (GR and ER), retinoids (RARs and RXRs), thyroid hormone (TRs), vitamin D3 (VDR) and prostanoids (PPARs). Displays histone acetyltransferase activity. Also involved in the coactivation of the NF-kappa-B pathway via its interaction with the NFKB1 subunit. Interacts with PSMB9. 1KBH;3L3X;3L3Z NM_181659.2 32307126 NCOA3 20 20q12 NCOA3 HGNC:7670 true hsa:8202 NP_001167559.1:NM_001174088.1;NP_006525.2:NM_006534.3;NP_858045.1:NM_181659.2 Widely expressed. High expression in heart, skeletal muscle, pancreas and placenta. Low expression in brain, and very low in lung, liver and kidney. Interacts with CARM1 . Present in a complex containing NCOA2, IKKA, IKKB, IKBKG and the histone acetyltransferase protein CREBBP. Interacts with CASP8AP2, NR3C1 and PCAF. Interacts with ATAD2 and this interaction is enhanced by estradiol. Found in a complex containing NCOA3, AR and MAK. Interacts with DDX5 2020-06-12T23:06:47Z 2020-07-28T02:24:46Z 1 0 1 28 CDBP00027 Histone acetyltransferase KAT2B Q92831 KAT2B_HUMAN true false Enzyme Homo_sapiens KAT2B 832 93012.295 9.014 Involved in N-acetyltransferase activity Functions as a histone acetyltransferase (HAT) to promote transcriptional activation. Has significant histone acetyltransferase activity with core histones (H3 and H4), and also with nucleosome core particles. Inhibits cell-cycle progression and counteracts the mitogenic activity of the adenoviral oncoprotein E1A. In case of HIV-1 infection, it is recruited by the viral protein Tat. Regulates Tat's transactivating activity and may help inducing chromatin remodeling of proviral genes. 1CM0;1JM4;1N72;1WUG;1WUM;1ZS5;2RNW;2RNX;3GG3 BC060823 38173798 KAT2B 3 3p24 KAT2B HGNC:8638 true hsa:8850 NP_003875.3:NM_003884.4 Ubiquitously expressed but most abundant in heart and skeletal muscle. Interacts with SIRT1. Interacts (unsumoylated form) with NR2C1; the interaction promotes transactivation activity . Interacts with EP300, CREBBP and DDX17. Interacts with NCOA1 and NCOA3. Component of a large chromatin remodeling complex, at least composed of MYSM1, KAT2B/PCAF, RBM10 and KIF11/TRIP5. Interacts with NR2C2 (hypophosphorylated and unsumoylated form); the interaction promotes the transactivation activity of NR2C2. Binds to HTLV-1 Tax. Interacts with and acetylates HIV-1 Tat. Interacts with KLF1; the interaction does not acetylate KLF1 and there is no enhancement of its transactivational activity. Interacts with NFE4. Interacts with MECOM. Interacts with E2F1; the interaction acetylates E2F1 augmenting its DNA-binding and transcriptional activity 2020-06-12T23:06:47Z 2020-07-28T02:24:47Z 0 0 1 29 CDBP00028 Carnitine O-acetyltransferase P43155 CACP_HUMAN true false Enzyme Homo_sapiens CRAT 626 70875.095 8.444 Involved in acyltransferase activity Carnitine acetylase is specific for short chain fatty acids. Carnitine acetylase seems to affect the flux through the pyruvate dehydrogenase complex. It may be involved as well in the transport of acetyl-CoA into mitochondria. 1NM8;1S5O AL158151 55958023 CRAT 9 9q34.1 CRAT HGNC:2342 true hsa:1384 NP_000746.2:NM_000755.3;NP_001244292.1:NM_001257363.1 Mostly in skeletal muscle, less in heart, liver and pancreas, only weakly detectable in brain, placenta, lung and kidney. Monomer 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 30 CDBP00029 Diamine acetyltransferase 1 P21673 SAT1_HUMAN true false Enzyme Homo_sapiens SAT1 171 20023.8 5.152 Involved in N-acetyltransferase activity Enzyme which catalyzes the acetylation of polyamines. Substrate specificity: norspermidine = spermidine >> spermine > N(1)-acetylspermine > putrescine. This highly regulated enzyme allows a fine attenuation of the intracellular concentration of polyamines. Also involved in the regulation of polyamine transport out of cells. Acts on 1,3-diaminopropane, 1,5-diaminopentane, putrescine, spermidine (forming N(1)- and N(8)-acetylspermidine), spermine, N(1)-acetylspermidine and N(8)-acetylspermidine. 2B3U;2B3V;2B4B;2B4D;2B58;2B5G;2F5I;2FXF;2G3T;2JEV M77693 SAT1 X Xp22.1 SAT1 HGNC:10540 true hsa:6303 HS05339-MONOMER NP_002961.1:NM_002970.2 Homodimer 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 31 CDBP00030 Serotonin N-acetyltransferase Q16613 SNAT_HUMAN true false Enzyme Homo_sapiens AANAT 207 23343.8 7.526 Involved in N-acetyltransferase activity Controls the night/day rhythm of melatonin production in the pineal gland. Catalyzes the N-acetylation of serotonin into N-acetylserotonin, the penultimate step in the synthesis of melatonin. U40347 AANAT 17 17q25 AANAT HGNC:19 true hsa:15 NP_001079.1:NM_001088.2;NP_001160051.1:NM_001166579.1 Highly expressed in pineal gland and at lower levels in the retina. Weak expression in several brain regions and in the pituitary gland. Monomer . Interacts with several 14-3-3 proteins, including YWHAB, YWHAE, YWHAG and YWHAZ, preferentially when phosphorylated at Thr-31. Phosphorylation on Ser-205 also allows binding to YWHAZ, but with lower affinity. The interaction with YWHAZ considerably increases affinity for arylalkylamines and acetyl-CoA and protects the enzyme from dephosphorylation and proteasomal degradation (By similarity). It may also prevent thiol-dependent inactivation (By similarity) 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 32 CDBP00031 3-ketoacyl-CoA thiolase, mitochondrial P42765 THIM_HUMAN true false Enzyme Homo_sapiens ACAA2 397 41923.82 8.09 Involved in transferase activity, transferring acyl groups other than amino-acyl groups Abolishes BNIP3-mediated apoptosis and mitochondrial damage. BC001918 12804931 ACAA2 18 18q21.1 ACAA2 HGNC:83 true hsa:10449 HS09539-MONOMER NP_006102.2:NM_006111.2 Homotetramer. Interacts with BNIP3 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 33 CDBP00032 Testis-specific chromodomain protein Y 1 Q9Y6F8 CDY1_HUMAN true false Enzyme Homo_sapiens CDY1 540 60472.605 9.095 Involved in chromatin binding Has histone acetyltransferase activity, with a preference for histone H4. 2FBM NM_170723.1 25453481 CDY1 Y Yq11.23 CDY1 HGNC:23920 true hsa:9085 NP_001003894.1:NM_001003894.1;NP_001003895.1:NM_001003895.1;NP_004671.1:NM_004680.2;NP_733841.1:NM_170723.1 Testis-specific. Detected in spermatids (at protein level). 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 34 CDBP00033 Fatty acid synthase P49327 FAS_HUMAN true true Enzyme Homo_sapiens FASN 2511 273424.06 6.446 Involved in transferase activity Fatty acid synthetase catalyzes the formation of long-chain fatty acids from acetyl-CoA, malonyl-CoA and NADPH. This multifunctional protein has 7 catalytic activities and an acyl carrier protein. 1XKT;2CG5;2JFD;2JFK;2PX6;3HHD;3TJM NM_004104.4 41872631 FASN 17 17q25 FASN HGNC:3594 true hsa:2194 HS09992-MONOMER NP_004095.4:NM_004104.4 Ubiquitous. Prominent expression in brain, lung, and liver. Homodimer which is arranged in a head to tail fashion 2020-06-12T23:06:47Z 2020-07-28T02:24:47Z 0 1 0 35 CDBP00034 Histone acetyltransferase KAT5 Q92993 KAT5_HUMAN true false Enzyme Homo_sapiens KAT5 513 56291.915 8.536 Involved in chromatin binding Catalytic subunit of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome-DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Directly acetylates and activates ATM. In case of HIV-1 infection, interaction with the viral Tat protein leads to KAT5 polyubiquitination and targets it to degradation. 2EKO;2OU2 AY214165 27802679 KAT5 11 11q13 KAT5 HGNC:5275 true hsa:10524 NP_001193762.1:NM_001206833.1;NP_006379.2:NM_006388.3;NP_874368.1:NM_182709.2;NP_874369.1:NM_182710.2 Interacts with the cytoplasmic tail of APP and APBB1/FE65 . Interacts with PLA2G4A/CPLA2, EDNRA and HDAC7. Component of the NuA4 histone acetyltransferase complex which contains the catalytic subunit KAT5/TIP60 and the subunits EP400, TRRAP/PAF400, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, ING3, actin, ACTL6A/BAF53A, MORF4L1/MRG15, MORF4L2/MRGX, MRGBP, YEATS4/GAS41, VPS72/YL1 and MEAF6. HTATTIP/TIP60, EPC1, and ING3 together constitute a minimal HAT complex termed Piccolo NuA4. The NuA4 complex interacts with MYC and the adenovirus E1A protein. Interacts with ATM. Interacts with PHF17. Interacts with HIV-1 Tat. Interacts with TRIM24 and TRIM68. Forms a complex with SENP6 and UBE2I in response to UV irradiation 2020-06-12T23:06:47Z 2020-07-28T02:24:47Z 1 1 1 36 CDBP00035 Acetyl-coenzyme A synthetase, cytoplasmic Q9NR19 ACSA_HUMAN true false Enzyme Homo_sapiens ACSS2 701 78579.11 6.461 Involved in acetate-CoA ligase activity Activates acetate so that it can be used for lipid synthesis or for energy generation. AF263614 ACSS2 20 20q11.22 ACSS2 HGNC:15814 true hsa:55902 HS05484-MONOMER NP_061147.1:NM_018677.3 Monomer 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 37 CDBP00036 Acetyl-CoA acetyltransferase, mitochondrial P24752 THIL_HUMAN true false Enzyme Homo_sapiens ACAT1 427 45199.2 8.846 Involved in transferase activity, transferring acyl groups other than amino-acyl groups Plays a major role in ketone body metabolism. 2F2S;2IB7;2IB8;2IB9;2IBU;2IBW;2IBY D90228 ACAT1 11 11q22.3 ACAT1 HGNC:93 true hsa:38 HS01167-MONOMER NP_000010.1:NM_000019.3 Homotetramer 2020-06-12T23:06:47Z 2020-07-28T02:24:47Z 0 1 0 38 CDBP00037 Nuclear receptor coactivator 1 Q15788 NCOA1_HUMAN true false Enzyme Homo_sapiens NCOA1 1441 156755.44 6.197 Involved in transcription coactivator activity Nuclear receptor coactivator that directly binds nuclear receptors and stimulates the transcriptional activities in a hormone-dependent fashion. Involved in the coactivation of different nuclear receptors, such as for steroids (PGR, GR and ER), retinoids (RXRs), thyroid hormone (TRs) and prostanoids (PPARs). Also involved in coactivation mediated by STAT3, STAT5A, STAT5B and STAT6 transcription factors. Displays histone acetyltransferase activity toward H3 and H4; the relevance of such activity remains however unclear. Plays a central role in creating multisubunit coactivator complexes that act via remodeling of chromatin, and possibly acts by participating in both chromatin remodeling and recruitment of general transcription factors. Required with NCOA2 to control energy balance between white and brown adipose tissues. Required for mediating steroid hormone response. Isoform 2 has a higher thyroid hormone-dependent transactivation activity than isoform 1 and isoform 3. 1FM6;1FM9;1K4W;1K74;1K7L;1KV6;1N4H;1NQ7;1NRL;1P8D;1PZL;1RDT;1TFC;1U3R;1U3S;1X76;1X78;1X7B;1X7J;1XIU;1XV9;1XVP;1YY4;1YYE;1ZAF;2A3I;2C52;2FVJ;2GTK;2HBH;2HC4;2HCD;2HFP;2NPA;2NV7;2P54;2PRG;3BEJ;3BQD;3CTB;3CWD;3DCT;3DCU;3DR1;3ET1;3ET3;3FEI;3FEJ;3FUR;3FXV;3G8I;3G9E;3H0A;3HC5;3HC6;3HVL;3IPQ;3IPS;3IPU;3KMR;3LMP;3OKH;3OKI;3OLF;3OLL;3OLS;3OMK;3OMM;3OMO;3OMP;3OMQ;3OOF;3OOK;3P88;3P89;3QT0;3RUT;3RUU;3RVF;3S9S;3T03;3UU7;3UUA;3UUD;3V9Y;3VN2;4DK7;4DK8;4DM6;4DM8;4DQM;4F9M;4G1D;4G1Y;4G1Z;4G20;4G21;4G2H AC013459 62702258 NCOA1 2 2p23 NCOA1 HGNC:7668 true hsa:8648 NP_003734.3:NM_003743.4;NP_671756.1:NM_147223.2;NP_671766.1:NM_147233.2 Widely expressed. Interacts with the methyltransferase CARM1 . Interacts with NCOA6 and NCOA2. Interacts with the FDL motif of STAT5A and STAT5B. Interacts with the LXXLL motif of STAT6. Interacts with STAT3 following IL-6 stimulation. Interacts with the basal transcription factor GTF2B. Interacts with the histone acetyltransferases EP300 and CREBBP. Interacts with PCAF, COPS5, NR3C1 and TTLL5/STAMP. Interacts with PSMB9. Interacts with UBE2L3; they functionally interact to regulate progesterone receptor transcriptional activity. Interacts with PRMT2 and DDX5. Interacts with ASXL1 2020-06-12T23:06:47Z 2020-07-28T02:24:48Z 1 0 1 39 CDBP00038 Hydroxymethylglutaryl-CoA synthase, mitochondrial P54868 HMCS2_HUMAN true false Enzyme Homo_sapiens HMGCS2 508 52481.065 7.877 Involved in hydroxymethylglutaryl-CoA synthase activity This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA reductase. 2WYA AL589734 56205097 HMGCS2 1 1p13-p12 HMGCS2 HGNC:5008 true hsa:3158 HS05836-MONOMER NP_001159579.1:NM_001166107.1;NP_005509.1:NM_005518.3 High expression in liver and colon. Low expression in testis, heart, skeletal muscle and kidney. 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 40 CDBP00039 Pyruvate dehydrogenase protein X component, mitochondrial O00330 ODPX_HUMAN true false Enzyme Homo_sapiens PDHX 501 54121.8 9.09 Involved in acyltransferase activity Required for anchoring dihydrolipoamide dehydrogenase (E3) to the dihydrolipoamide transacetylase (E2) core of the pyruvate dehydrogenase complexes of eukaryotes. This specific binding is essential for a functional PDH complex ["None"] ["None"] AF001437 2316040 PDHX Chromosome:1 11p13 PDHX HGNC:21350 true 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 41 CDBP00040 Acetyl-coenzyme A synthetase 2-like, mitochondrial Q9NUB1 ACS2L_HUMAN true false Enzyme Homo_sapiens ACSS1 689 74625.88 7.221 Involved in acetate-CoA ligase activity Important for maintaining normal body temperature during fasting and for energy homeostasis. Essential for energy expenditure under ketogenic conditions (By similarity). Converts acetate to acetyl-CoA so that it can be used for oxidation through the tricarboxylic cycle to produce ATP and CO(2). 3GLR;3GLT;3GLU BC039261 24659677 ACSS1 20 20p11.23-p11.21 ACSS1 HGNC:16091 true hsa:84532 NP_001239604.1:NM_001252675.1;NP_001239605.1:NM_001252676.1;NP_115890.2:NM_032501.3 Interacts with SIRT3 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 42 CDBP00041 Citrate synthase, mitochondrial O75390 CISY_HUMAN true false Enzyme Homo_sapiens CS 466 51712.025 8.331 Involved in transferase activity, transferring acyl groups, acyl groups converted into alkyl on transfer AF047042 3288815 CS 12 12q13.2 CS HGNC:2422 true hsa:1431 ENSG00000062485-MONOMER NP_004068.2:NM_004077.2 Homodimer 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 43 CDBP00042 Testis-specific chromodomain protein Y 2 Q9Y6F7 CDY2_HUMAN true false Enzyme Homo_sapiens CDY2A 541 60523.72 8.983 Involved in chromatin binding May have histone acetyltransferase activity (By similarity). 2FW2 AF080598 4558754 CDY2A Y Yq11.221 CDY2A HGNC:23921 true hsa:9426 NP_001001722.1:NM_001001722.1;NP_004816.1:NM_004825.2 Testis specific. 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 44 CDBP00043 3-ketoacyl-CoA thiolase, peroxisomal P09110 THIK_HUMAN true false Enzyme Homo_sapiens ACAA1 424 34664.46 8.383 Involved in transferase activity, transferring acyl groups other than amino-acyl groups 2IIK X12966 23874 ACAA1 3 3p22.2 ACAA1 HGNC:82 true hsa:30 HS00752-MONOMER NP_001123882.1:NM_001130410.1;NP_001598.1:NM_001607.3 Homodimer 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 45 CDBP00044 Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial P08559 ODPA_HUMAN true false Enzyme Homo_sapiens PDHA1 390 43295.255 8.063 Involved in oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle. 1NI4;2OZL;3EXE;3EXF;3EXG;3EXH;3EXI M24848 PDHA1 X Xp22.1 PDHA1 HGNC:8806 true hsa:5160 HS05573-MONOMER NP_000275.1:NM_000284.3;NP_001166925.1:NM_001173454.1;NP_001166926.1:NM_001173455.1;NP_001166927.1:NM_001173456.1 Ubiquitous. Thiamine pyrophosphate Heterotetramer of two PDHA1 and two PDHB subunits. The heterotetramer interacts with DLAT, and is part of the multimeric pyruvate dehydrogenase complex that contains multiple copies of pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (DLAT, E2) and lipoamide dehydrogenase (DLD, E3). These subunits are bound to an inner core composed of about 48 DLAT and 12 PDHX molecules 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 46 CDBP00045 Acetyl-CoA carboxylase 1 Q13085 ACACA_HUMAN true false Enzyme Homo_sapiens ACACA 2346 269997.01 6.521 Involved in acetyl-CoA carboxylase activity Catalyzes the rate-limiting reaction in the biogenesis of long-chain fatty acids. Carries out three functions: biotin carboxyl carrier protein, biotin carboxylase and carboxyltransferase. 2YL2;3COJ;4ASI NM_198836.1 38679967 ACACA 17 17q21 ACACA HGNC:84 true hsa:31 NP_942131.1:NM_198834.1;NP_942133.1:NM_198836.1;NP_942134.1:NM_198837.1;NP_942135.1:NM_198838.1;NP_942136.1:NM_198839.1 Expressed in brain, placental, skeletal muscle, renal, pancreatic and adipose tissues; expressed at low level in pulmonary tissue; not detected in the liver. Biotin;manganese ions Monomer, homodimer, and homotetramer. Can form filamentous polymers. Interacts in its inactive phosphorylated form with the BRCT domains of BRCA1 which prevents ACACA dephosphorylation and inhibits lipid synthesis. Interacts with MID1IP1; interaction with MID1IP1 promotes oligomerization and increases its activity 2020-06-12T23:06:47Z 2020-07-28T02:24:48Z 0 1 0 47 CDBP00046 Trifunctional enzyme subunit beta, mitochondrial P55084 ECHB_HUMAN true false Enzyme Homo_sapiens HADHB 474 51293.955 9.406 Involved in transferase activity, transferring acyl groups other than amino-acyl groups D16481 HADHB 2 2p23 HADHB HGNC:4803 true hsa:3032 NP_000174.1:NM_000183.2 Octamer of 4 alpha (HADHA) and 4 beta (HADHB) subunits. Interacts with RSAD2/viperin 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 48 CDBP00047 2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial O75600 KBL_HUMAN true false Enzyme Homo_sapiens GCAT 419 47973.79 7.975 Involved in glycine C-acetyltransferase activity AF077740 GCAT 22 22q13.1 GCAT HGNC:4188 true hsa:23464 NP_001165161.1:NM_001171690.1;NP_055106.1:NM_014291.3 Strongly expressed in heart, brain, liver and pancreas. Also found in lung. Pyridoxal phosphate 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 49 CDBP00048 Pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial P29803 ODPAT_HUMAN true false Enzyme Homo_sapiens PDHA2 388 42932.855 8.46 Involved in oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle. AK313872 PDHA2 4 4q22-q23 PDHA2 HGNC:8807 true hsa:5161 NP_005381.1:NM_005390.4 Testis. Expressed in postmeiotic spermatogenic cells. Thiamine pyrophosphate Heterotetramer of two PDHA2 and two PDHB subunits. The heterotetramer interacts with DLAT, and is part of the multimeric pyruvate dehydrogenase complex that contains multiple copies of pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (DLAT, E2) and lipoamide dehydrogenase (DLD, E3). These subunits are bound to an inner core composed of about 48 DLAT and 12 PDHX molecules 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 50 CDBP00049 Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial Q02252 MMSA_HUMAN true false Enzyme Homo_sapiens ALDH6A1 535 57839.31 8.494 Involved in oxidoreductase activity Plays a role in valine and pyrimidine metabolism. Binds fatty acyl-CoA. AF148505 6164678 ALDH6A1 14 14q24.3 ALDH6A1 HGNC:7179 true hsa:4329 NP_005580.1:NM_005589.2 Homotetramer 2020-06-12T23:06:47Z 2020-07-28T02:24:49Z 0 0 0 51 CDBP00050 Glucosamine 6-phosphate N-acetyltransferase Q96EK6 GNA1_HUMAN true false Enzyme Homo_sapiens GNPNAT1 184 20748.965 7.992 Involved in N-acetyltransferase activity 2HUZ;2O28;3CXP;3CXQ;3CXS AK090577 21748766 GNPNAT1 14 14q22.1 GNPNAT1 HGNC:19980 true hsa:64841 NP_932332.1:NM_198066.3 Homodimer 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 52 CDBP00051 Hydroxymethylglutaryl-CoA synthase, cytoplasmic Q01581 HMCS1_HUMAN true false Enzyme Homo_sapiens HMGCS1 520 57293.105 5.412 Involved in hydroxymethylglutaryl-CoA synthase activity This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA reductase. 2P8U X66435 30009 HMGCS1 5 5p14-p13 HMGCS1 HGNC:5007 true hsa:3157 ENSG00000112972-MONOMER NP_001091742.1:NM_001098272.2;NP_002121.4:NM_002130.7 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 53 CDBP00052 Dihydrolipoyl dehydrogenase, mitochondrial P09622 DLDH_HUMAN true false Enzyme Homo_sapiens DLD 509 54176.91 7.855 Involved in oxidoreductase activity Lipoamide dehydrogenase is a component of the glycine cleavage system as well as of the alpha-ketoacid dehydrogenase complexes. Involved in the hyperactivation of spermatazoa during capacitation and in the spermatazoal acrosome reaction. 1ZMC;1ZMD;1ZY8;2F5Z;3RNM NM_000108.3 91199540 DLD 7 7q31-q32 DLD HGNC:2898 true hsa:1738 HS01727-MONOMER NP_000099.2:NM_000108.3 FAD Homodimer. Eukaryotic pyruvate dehydrogenase complexes are organized about a core consisting of the oligomeric dihydrolipoamide acetyl-transferase, around which are arranged multiple copies of pyruvate dehydrogenase, dihydrolipoamide dehydrogenase and protein X bound by non-covalent bonds 2020-06-12T23:06:47Z 2020-07-28T02:24:49Z 0 0 0 54 CDBP00053 Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial P10515 ODP2_HUMAN true false Enzyme Homo_sapiens DLAT 647 68996.03 7.835 Involved in acyltransferase activity The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle. 1FYC;1Y8N;1Y8O;1Y8P;2DNE;2PNR;2Q8I;3B8K;3CRK;3CRL AK223596 62898924 DLAT 11 11q23.1 DLAT HGNC:2896 true hsa:1737 HS07688-MONOMER NP_001922.2:NM_001931.4 lipoyl cofactors covalently Part of the multimeric pyruvate dehydrogenase complex that contains multiple copies of pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (DLAT, E2) and lipoamide dehydrogenase (DLD, E3). These subunits are bound to an inner core composed of about 48 DLAT and 12 PDHX molecules. Interacts with PDK2 and PDK3 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 55 CDBP00054 Acyl-protein thioesterase 1 O75608 LYPA1_HUMAN true false Enzyme Homo_sapiens LYPLA1 230 24669.355 6.771 Involved in hydrolase activity Hydrolyzes fatty acids from S-acylated cysteine residues in proteins such as trimeric G alpha proteins or HRAS. Has depalmitoylating activity and also low lysophospholipase activity. 1FJ2 NM_006330.2 5453722 LYPLA1 8 8q11.23 LYPLA1 HGNC:6737 true hsa:10434 NP_006321.1:NM_006330.2 Homodimer 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 56 CDBP00055 Group XV phospholipase A2 Q8NCC3 PAG15_HUMAN true false Enzyme Homo_sapiens PLA2G15 412 Involved in phosphatidylcholine-sterol O-acyltransferase activity Has transacylase and calcium-independent phospholipase A2 activity. Catalyzes the formation of 1-O-acyl-N-acetylsphingosine and the concomitant release of a lyso-phospholipid (By similarity). May have weak lysophospholipase activity. AB017494 PLA2G15 PLA2G15 HGNC:17163 true hsa:23659 NP_036452.1:NM_012320.3 Highly expressed in heart, placenta, skeletal muscle, kidney and pancreas. Detected at lower levels in spleen, thymus, prostate, testis, ovary, small intestine, colon and peripheral blood leukocytes. 2020-06-12T23:06:47Z 2020-07-28T02:24:49Z 0 0 0 57 CDBP00056 Calcium-dependent phospholipase A2 P39877 PA2G5_HUMAN true false Enzyme Homo_sapiens PLA2G5 138 15674.065 8.411 Involved in phospholipase A2 activity PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. This isozyme hydrolyzes more efficiently L-alpha-1-palmitoyl-2-oleoyl phosphatidylcholine than L-alpha-1-palmitoyl-2-arachidonyl phosphatidylcholine, L-alpha-1-palmitoyl-2-arachidonyl phosphatidylethanolamine, or L-alpha-1-stearoyl-2-arachidonyl phosphatidylinositol. May be involved in the production of lung surfactant, the remodeling or regulation of cardiac muscle. 2GHN AL158172 10862735 PLA2G5 1 1p36-p34 PLA2G5 HGNC:9038 true hsa:5322 NP_000920.1:NM_000929.2 Heart, placenta and less abundantly, in lung. Detected in the outer and inner plexiform layers of the retina (at protein level). calcium ion 2020-06-12T23:06:47Z 2020-07-28T02:24:49Z 0 1 0 58 CDBP00057 Group IIF secretory phospholipase A2 Q9BZM2 PA2GF_HUMAN true false Enzyme Homo_sapiens PLA2G2F 168 23256.29 7.023 Involved in phospholipase A2 activity PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. Hydrolyzes phosphatidylglycerol versus phosphatidylcholine with a 15-fold preference. AF306566 12276060 PLA2G2F 1 1p35 PLA2G2F HGNC:30040 true hsa:64600 NP_073730.3:NM_022819.3 Expressed at high levels in placenta, testis, thymus and at lower levels in heart, kidney, liver and prostate. calcium ion 2020-06-12T23:06:47Z 2020-07-28T02:24:49Z 0 1 0 59 CDBP00058 Cytosolic phospholipase A2 P47712 PA24A_HUMAN true false Enzyme Homo_sapiens PLA2G4A 749 85210.19 5.376 Involved in metabolic process Selectively hydrolyzes arachidonyl phospholipids in the sn-2 position releasing arachidonic acid. Together with its lysophospholipid activity, it is implicated in the initiation of the inflammatory response. 1BCI;1CJY;1RLW M72393 PLA2G4A 1 1q25 PLA2G4A HGNC:9035 true hsa:5321 NP_077734.1:NM_024420.2 Expressed in various tissues such as macrophages, platelets, neutrophils, fibroblasts and lung endothelium. Interacts with KAT5 2020-06-12T23:06:47Z 2020-07-28T02:24:50Z 0 0 0 60 CDBP00059 Phospholipase A2 P04054 PA21B_HUMAN true false Enzyme Homo_sapiens PLA2G1B 148 16359.535 7.849 Involved in phospholipase A2 activity PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. 1YSK;3ELO M21054 PLA2G1B 12 12q23-q24.1 PLA2G1B HGNC:9030 true hsa:5319 NP_000919.1:NM_000928.2 calcium ion 2020-06-12T23:06:47Z 2020-07-28T02:24:50Z 1 1 1 61 CDBP00060 Group XIIB secretory phospholipase A2-like protein Q9BX93 PG12B_HUMAN true false Enzyme Homo_sapiens PLA2G12B 195 Involved in phospholipase A2 activity Not known; does not seem to have catalytic activity. AF339053 15824793 PLA2G12B PLA2G12B HGNC:18555 true hsa:84647 NP_115951.2:NM_032562.2 Strong expression in liver, small intestine and kidney. calcium ion 2020-06-12T23:06:47Z 2020-07-28T02:24:50Z 0 1 0 62 CDBP00061 Group 10 secretory phospholipase A2 O15496 PA2GX_HUMAN true false Enzyme Homo_sapiens PLA2G10 165 18153.04 6.475 Involved in phospholipase A2 activity PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. Has a powerful potency for releasing arachidonic acid from cell membrane phospholipids. Prefers phosphatidylethanolamine and phosphatidylcholine liposomes to those of phosphatidylserine. 1LE6;1LE7 U95301 PLA2G10 16 16p13.1-p12 PLA2G10 HGNC:9029 true hsa:8399 NP_003552.1:NM_003561.1 Found in spleen, thymus, peripheral blood leukocytes, pancreas, lung, and colon. calcium ion 2020-06-12T23:06:47Z 2020-07-28T02:24:50Z 0 1 1 63 CDBP00062 Galactoside-binding soluble lectin 13 Q9UHV8 PP13_HUMAN true false Enzyme Homo_sapiens LGALS13 139 16118.44 5.737 Involved in sugar binding Has lysophospholipase activity. 1F87 AF117383 6650760 LGALS13 19 19q13.1 LGALS13 HGNC:15449 true hsa:29124 NP_037400.1:NM_013268.2 Detected in adult and fetal spleen, fetal kidney, adult urinary bladder and placenta. Placental expression originates predominantly from the syncytiotrophoblast. Homodimer; disulfide-linked 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 64 CDBP00063 Group IIE secretory phospholipase A2 Q9NZK7 PA2GE_HUMAN true false Enzyme Homo_sapiens PLA2G2E 142 15988.525 8.223 Involved in phospholipase A2 activity PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. Has a preference for arachidonic-containing phospholipids. AF189279 PLA2G2E 1 1p36.13 PLA2G2E HGNC:13414 true hsa:30814 NP_055404.1:NM_014589.2 Restricted to the brain, heart, lung, and placenta. calcium ion 2020-06-12T23:06:47Z 2020-07-28T02:24:50Z 0 1 0 65 CDBP00064 Acyl-protein thioesterase 2 O95372 LYPA2_HUMAN true false Enzyme Homo_sapiens LYPLA2 231 24736.71 7.222 Involved in hydrolase activity May hydrolyze fatty acids from S-acylated cysteine residues in proteins such as trimeric G alpha proteins or HRAS. Has lysophospholipase activity (By similarity). Deacylates GAP43. NM_007260.2 9966764 LYPLA2 1 1p36.11 LYPLA2 HGNC:6738 true hsa:11313 NP_009191.1:NM_007260.2 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 66 CDBP00065 Group XIIA secretory phospholipase A2 Q9BZM1 PG12A_HUMAN true false Enzyme Homo_sapiens PLA2G12A 189 21066.99 7.237 Involved in phospholipase A2 activity PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. Does not exhibit detectable activity toward sn-2-arachidonoyl- or linoleoyl-phosphatidylcholine or -phosphatidylethanolamine. AF306567 12276062 PLA2G12A 4 4q25 PLA2G12A HGNC:18554 true hsa:81579 NP_110448.2:NM_030821.4 Abundantly expressed in heart, skeletal muscle, kidney, liver and pancreas. calcium ion 2020-06-12T23:06:47Z 2020-07-28T02:24:50Z 0 1 0 67 CDBP00066 85/88 kDa calcium-independent phospholipase A2 O60733 PA2G6_HUMAN true false Enzyme Homo_sapiens PLA2G6 806 84092.635 7.235 Involved in metabolic process Catalyzes the release of fatty acids from phospholipids. It has been implicated in normal phospholipid remodeling, nitric oxide-induced or vasopressin-induced arachidonic acid release and in leukotriene and prostaglandin production. May participate in fas mediated apoptosis and in regulating transmembrane ion flux in glucose-stimulated B-cells. Has a role in cardiolipin (CL) deacylation. Required for both speed and directionality of monocyte MCP1/CCL2-induced chemotaxis through regulation of F-actin polymerization at the pseudopods. Isoform ankyrin-iPLA2-1 and isoform ankyrin-iPLA2-2, which lack the catalytic domain, are probably involved in the negative regulation of iPLA2 activity. AF064594 3142700 PLA2G6 22 22q13.1 PLA2G6 HGNC:9039 true hsa:8398 NP_001004426.1:NM_001004426.1;NP_001186491.1:NM_001199562.1;NP_003551.2:NM_003560.2 Four different transcripts were found to be expressed in a distinct tissue distribution. Forms large oligomeric 270-350 kDa structures 2020-06-12T23:06:47Z 2020-07-28T02:24:50Z 0 0 0 68 CDBP00067 Phosphatidylcholine-sterol acyltransferase P04180 LCAT_HUMAN true false Enzyme Homo_sapiens LCAT 440 49577.545 6.11 Involved in phosphatidylcholine-sterol O-acyltransferase activity Central enzyme in the extracellular metabolism of plasma lipoproteins. Synthesized mainly in the liver and secreted into plasma where it converts cholesterol and phosphatidylcholines (lecithins) to cholesteryl esters and lysophosphatidylcholines on the surface of high and low density lipoproteins (HDLs and LDLs). The cholesterol ester is then transported back to the liver. Has a preference for plasma 16:0-18:2 or 18:O-18:2 phosphatidylcholines. Also produced in the brain by primary astrocytes, and esterifies free cholesterol on nascent APOE-containing lipoproteins secreted from glia and influences cerebral spinal fluid (CSF) APOE- and APOA1 levels. Together with APOE and the cholesterol transporter ABCA1, plays a key role in the maturation of glial-derived, nascent lipoproteins. Required for remodeling high-density lipoprotein particles into their spherical forms. BC014781 15928623 LCAT 16 16q22.1 LCAT HGNC:6522 true hsa:3931 NP_000220.1:NM_000229.1 Expressed mainly in brain, liver and testes. Secreted into plasma and cerebral spinal fluid. Expressed in Hep-G2 cell line. 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 69 CDBP00068 Eosinophil lysophospholipase Q05315 LPPL_HUMAN true false Enzyme Homo_sapiens CLC 142 16452.785 7.377 Involved in sugar binding May have both lysophospholipase and carbohydrate-binding activities. 1G86;1HDK;1LCL;1QKQ AC005393 3399666 CLC 19 19q13.1 CLC HGNC:2014 true hsa:1178 NP_001819.2:NM_001828.5 Expressed exclusively by eosinophils and basophils. Not detected in monocytes and neutrophils. 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 70 CDBP00069 Phospholipase A2, membrane associated P14555 PA2GA_HUMAN true false Enzyme Homo_sapiens PLA2G2A 144 16082.525 9.235 Involved in phospholipase A2 activity Thought to participate in the regulation of the phospholipid metabolism in biomembranes including eicosanoid biosynthesis. Catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. 1AYP;1BBC;1DB4;1DB5;1DCY;1J1A;1KQU;1KVO;1N28;1N29;1POD;1POE;2GNY;3U8B;3U8D;3U8H;3U8I M22430 PLA2G2A 1 1p35 PLA2G2A HGNC:9031 true hsa:5320 NP_000291.1:NM_000300.3;NP_001155199.1:NM_001161727.1;NP_001155200.1:NM_001161728.1;NP_001155201.1:NM_001161729.1 calcium ion 2020-06-12T23:06:47Z 2020-07-28T02:24:50Z 0 1 0 71 CDBP00070 Group IID secretory phospholipase A2 Q9UNK4 PA2GD_HUMAN true false Enzyme Homo_sapiens PLA2G2D 145 16546.1 8.22 Involved in phospholipase A2 activity PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. L-alpha-1-palmitoyl-2-linoleoyl phosphatidylethanolamine is more efficiently hydrolyzed than the other phospholipids examined. AF112982 5771420 PLA2G2D 1 1p36.12 PLA2G2D HGNC:9033 true hsa:26279 NP_036532.1:NM_012400.3 Broadly expressed. calcium ion 2020-06-12T23:06:47Z 2020-07-28T02:24:51Z 0 1 0 72 CDBP00071 Aldo-keto reductase family 1 member C4 P17516 AK1C4_HUMAN true true Enzyme Homo_sapiens AKR1C4 323 37094.57 7.164 Involved in oxidoreductase activity Catalyzes the transformation of the potent androgen dihydrotestosterone (DHT) into the less active form, 5-alpha-androstan-3-alpha,17-beta-diol (3-alpha-diol). Also has some 20-alpha-hydroxysteroid dehydrogenase activity. The biotransformation of the pesticide chlordecone (kepone) to its corresponding alcohol leads to increased biliary excretion of the pesticide and concomitant reduction of its neurotoxicity since bile is the major excretory route. 2FVL AB031085 7328948 AKR1C4 10 10p15.1 AKR1C4 HGNC:387 true hsa:1109 NP_001809.3:NM_001818.3 Liver specific. Monomer 2020-06-12T23:06:47Z 2020-07-28T02:24:51Z 0 0 0 73 CDBP00072 Carbonyl reductase [NADPH] 1 P16152 CBR1_HUMAN true false Enzyme Homo_sapiens CBR1 277 30374.73 8.319 Involved in oxidoreductase activity NADPH-dependent reductase with broad substrate specificity. Catalyzes the reduction of a wide variety of carbonyl compounds including quinones, prostaglandins, menadione, plus various xenobiotics. Catalyzes the reduction of the antitumor anthracyclines doxorubicin and daunorubicin to the cardiotoxic compounds doxorubicinol and daunorubicinol. Can convert prostaglandin E2 to prostaglandin F2-alpha. Can bind glutathione, which explains its higher affinity for glutathione-conjugated substrates. Catalyzes the reduction of S-nitrosoglutathione. 1WMA;2PFG;3BHI;3BHJ;3BHM J04056 CBR1 21 21q22.13 CBR1 HGNC:1548 true hsa:873 NP_001748.1:NM_001757.2 Monomer 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 74 CDBP00073 Dehydrogenase/reductase SDR family member 4 Q9BTZ2 DHRS4_HUMAN true false Enzyme Homo_sapiens DHRS4 278 29536.885 8.555 Involved in oxidoreductase activity Reduces all-trans-retinal and 9-cis retinal. Can also catalyze the oxidation of all-trans-retinol with NADP as co-factor, but with much lower efficiency. Reduces alkyl phenyl ketones and alpha-dicarbonyl compounds with aromatic rings, such as pyrimidine-4-aldehyde, 3-benzoylpyridine, 4-benzoylpyridine, menadione and 4-hexanoylpyridine. Has no activity towards aliphatic aldehydes and ketones (By similarity). 3O4R NM_021004.2 32483357 DHRS4 14 14q11.2 DHRS4 HGNC:16985 true hsa:10901 NP_066284.2:NM_021004.2 Isoform 1 is predominantly expressed in normal cervix (at protein level). Isoform 4 is expressed in some neoplastic cervical tissues, but not in normal cervix (at protein level). Isoform 5 and isoform 6 are expressed in a few neoplastic cervical tissues. Homotetramer 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 75 CDBP00074 Carbonyl reductase [NADPH] 3 O75828 CBR3_HUMAN true false Enzyme Homo_sapiens CBR3 277 30849.97 6.172 Involved in oxidoreductase activity Has low NADPH-dependent oxidoreductase activity towards 4-benzoylpyridine and menadione (in vitro). 2HRB AB003151 3702679 CBR3 21 21q22.2 CBR3 HGNC:1549 true hsa:874 NP_001227.1:NM_001236.3 Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 76 CDBP00075 15-hydroxyprostaglandin dehydrogenase [NAD(+)] P15428 PGDH_HUMAN true false Enzyme Homo_sapiens HPGD 266 28977.105 5.857 Involved in oxidoreductase activity Prostaglandin inactivation. Contributes to the regulation of events that are under the control of prostaglandin levels. Catalyzes the NAD-dependent dehydrogenation of lipoxin A4 to form 15-oxo-lipoxin A4. Inhibits in vivo proliferation of colon cancer cells. 2GDZ AK314624 189054417 HPGD 4 4q34-q35 HPGD HGNC:5154 true hsa:3248 NP_000851.2:NM_000860.5;NP_001139288.1:NM_001145816.2;NP_001243230.1:NM_001256301.1;NP_001243234.1:NM_001256305.1;NP_001243235.1:NM_001256306.1;NP_001243236.1:NM_001256307.1 Detected in colon epithelium (at protein level). Homodimer 2020-06-12T23:06:47Z 2020-07-28T02:24:51Z 1 0 0 77 CDBP00076 Prostaglandin E synthase O14684 PTGES_HUMAN true false Enzyme Homo_sapiens PTGES 152 17102.135 9.493 Involved in prostaglandin-E synthase activity Catalyzes the oxidoreduction of prostaglandin endoperoxide H2 (PGH2) to prostaglandin E2 (PGE2). 3DWW NM_004878.4 4758910 PTGES 9 9q34.3 PTGES HGNC:9599 true hsa:9536 NP_004869.1:NM_004878.4 Glutathione Homotrimer 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 78 CDBP00077 Phospholipase D2 O14939 PLD2_HUMAN true false Enzyme Homo_sapiens PLD2 933 104656.485 7.339 Involved in protein binding May have a role in signal-induced cytoskeletal regulation and/or endocytosis (By similarity). AF033850 2645858 PLD2 17 17p13.1 PLD2 HGNC:9068 true hsa:5338 NP_001230037.1:NM_001243108.1;NP_002654.3:NM_002663.4 Ubiquitous. Interacts with EGFR . Interacts with PIP5K1B 2020-06-12T23:06:47Z 2020-07-28T02:24:51Z 1 0 0 79 CDBP00078 Phosphatidylethanolamine N-methyltransferase Q9UBM1 PEMT_HUMAN true false Enzyme Homo_sapiens PEMT 199 23697.395 8.574 Involved in N-methyltransferase activity Catalyzes three sequential methylation reactions of phosphatidylethanolamine (PE) by AdoMet, thereby producing phosphatidylcholine (PC). AB029821 5459516 PEMT 17 17p11.2 PEMT HGNC:8830 true hsa:10400 NP_001254480.1:NM_001267551.1;NP_001254481.1:NM_001267552.1;NP_009100.2:NM_007169.2;NP_680477.1:NM_148172.2;NP_680478.1:NM_148173.1 2020-06-12T23:06:47Z 2020-07-28T02:24:51Z 0 0 0 80 CDBP00079 Phospholipase D1 Q13393 PLD1_HUMAN true false Enzyme Homo_sapiens PLD1 1074 124183.135 8.777 Involved in protein binding Implicated as a critical step in numerous cellular pathways, including signal transduction, membrane trafficking, and the regulation of mitosis. May be involved in the regulation of perinuclear intravesicular membrane traffic (By similarity). U38545 PLD1 3 3q26 PLD1 HGNC:9067 true hsa:5337 NP_002653.1:NM_002662.4 Expressed abundantly in the pancreas and heart and at high levels in brain, placenta, spleen, uterus and small intestine. Interacts with PIP5K1B 2020-06-12T23:06:47Z 2020-07-28T02:24:51Z 0 0 0 81 CDBP00080 Thymidylate kinase P23919 KTHY_HUMAN true false Enzyme Homo_sapiens DTYMK 212 23819.105 8.267 Involved in thymidylate kinase activity Catalyzes the conversion of dTMP to dTDP. 1E2D;1E2E;1E2F;1E2G;1E2Q;1E98;1E99;1E9A;1E9B;1E9C;1E9D;1E9E;1E9F;1NMX;1NMY;1NMZ;1NN0;1NN1;1NN3;1NN5;2XX3 X54729 37206 DTYMK 2 2q37.3 DTYMK HGNC:3061 true hsa:1841 NP_036277.2:NM_012145.3 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 82 CDBP00081 Ectonucleoside triphosphate diphosphohydrolase 1 P49961 ENTP1_HUMAN true false Enzyme Homo_sapiens ENTPD1 510 58706.0 6.736 Involved in hydrolase activity In the nervous system, could hydrolyze ATP and other nucleotides to regulate purinergic neurotransmission. Could also be implicated in the prevention of platelet aggregation by hydrolyzing platelet-activating ADP to AMP. Hydrolyzes ATP and ADP equally well. NM_001776.5 45580700 ENTPD1 10 10q24 ENTPD1 HGNC:3363 true hsa:953 NP_001091645.1:NM_001098175.1;NP_001157650.1:NM_001164178.1;NP_001157653.1:NM_001164181.1;NP_001157654.1:NM_001164182.1;NP_001157655.1:NM_001164183.1;NP_001767.3:NM_001776.5 Expressed primarily on activated lymphoid cells. Also expressed in endothelial tissues. Isoform 1 and isoform 3 are present in both placenta and umbilical vein, whereas isoform 2 is present in placenta only. Calcium;Magnesium Homodimer; disulfide-linked 2020-06-12T23:06:47Z 2020-07-28T02:24:51Z 0 0 0 83 CDBP00082 Soluble calcium-activated nucleotidase 1 Q8WVQ1 CANT1_HUMAN true false Enzyme Homo_sapiens CANT1 401 44839.24 6.082 Involved in calcium ion binding Calcium-dependent nucleotidase with a preference for UDP. The order of activity with different substrates is UDP > GDP > UTP > GTP. Has very low activity towards ADP and even lower activity towards ATP. Does not hydrolyze AMP and GMP. Involved in proteoglycan synthesis. 1S18;1S1D;2H2N;2H2U NM_001159772.1 229577440 CANT1 17 17q25.3 CANT1 HGNC:19721 true hsa:124583 NP_001153244.1:NM_001159772.1;NP_001153245.1:NM_001159773.1;NP_620148.1:NM_138793.3 Widely expressed. Calcium Monomer 2020-06-12T23:06:47Z 2020-07-28T02:24:51Z 0 1 0 84 CDBP00083 Ectonucleoside triphosphate diphosphohydrolase 3 O75355 ENTP3_HUMAN true false Enzyme Homo_sapiens ENTPD3 529 59104.76 6.423 Involved in hydrolase activity Has a threefold preference for the hydrolysis of ATP over ADP. AF034840 13817037 ENTPD3 3 3p21.3 ENTPD3 HGNC:3365 true hsa:956 NP_001239.2:NM_001248.2 Expressed in adult brain, pancreas, spleen and prostate. Moderate or low expression is seen in most tissues. Not expressed in liver and peripheral blood leukocytes. Calcium;Magnesium 2020-06-12T23:06:47Z 2020-07-28T02:24:51Z 0 0 0 85 CDBP00084 Tyrosinase P14679 TYRO_HUMAN true false Enzyme Homo_sapiens TYR 529 60392.69 6.118 Involved in oxidoreductase activity This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the rate-limiting conversions of tyrosine to DOPA, DOPA to DOPA-quinone and possibly 5,6-dihydroxyindole to indole-5,6 quinone. M27160 340037 TYR 11 11q14-q21 TYR HGNC:12442 true hsa:7299 HS01248-MONOMER NP_000363.1:NM_000372.4 copper ions 2020-06-12T23:06:47Z 2020-07-28T02:24:51Z 0 0 0 86 CDBP00085 Aldose reductase P15121 ALDR_HUMAN true false Enzyme Homo_sapiens AKR1B1 316 35853.125 6.982 Involved in oxidoreductase activity Catalyzes the NADPH-dependent reduction of a wide variety of carbonyl-containing compounds to their corresponding alcohols with a broad range of catalytic efficiencies. 1ABN;1ADS;1AZ1;1AZ2;1EF3;1EL3;1IEI;1MAR;1PWL;1PWM;1T40;1T41;1US0;1X96;1X97;1X98;1XGD;1Z3N;1Z89;1Z8A;2ACQ;2ACR;2ACS;2ACU;2AGT;2DUX;2DUZ;2DV0;2F2K;2FZ8;2FZ9;2FZB;2FZD;2HV5;2HVN;2HVO;2I16;2I17;2IKG;2IKH;2IKI;2IKJ;2INE;2INZ;2IPW;2IQ0;2IQD;2IS7;2ISF;2J8T;2NVC;2NVD;2PD5;2PD9;2PDB;2PDC;2PDF;2PDG;2PDH;2PDI;2PDJ;2PDK;2PDL;2PDM;2PDN;2PDP;2PDQ;2PDU;2PDW;2PDX;2PDY;2PEV;2PF8;2PFH;2PZN;2QXW;2R24;3BCJ;3DN5;3G5E;3GHR;3GHS;3GHT;3GHU;3LBO;3LD5;3LEN;3LEP;3LQG;3LQL;3LZ3;3LZ5;3M0I;3M4H;3M64;3MB9;3MC5;3ONB;3ONC;3P2V;3Q65;3Q67;3RX2;3RX3;3RX4;3S3G;3T42;3U2C;3V35;3V36 AF032455 2687578 AKR1B1 7 7q35 AKR1B1 HGNC:381 true hsa:231 HS01502-MONOMER NP_001619.1:NM_001628.2 Highly expressed in embryonic epithelial cells (EUE) in response to osmotic stress. Monomer 2020-06-12T23:06:47Z 2020-07-28T02:24:51Z 0 0 0 87 CDBP00086 Serum paraoxonase/lactonase 3 Q15166 PON3_HUMAN true false Enzyme Homo_sapiens PON3 354 39607.185 5.419 Involved in arylesterase activity Has low activity towards the organophosphate paraxon and aromatic carboxylic acid esters. Rapidly hydrolyzes lactones such as statin prodrugs (e.g. lovastatin). Hydrolyzes aromatic lactones and 5- or 6-member ring lactones with aliphatic substituents but not simple lactones or those with polar substituents. NM_000940.2 29788996 PON3 7 7q21.3 PON3 HGNC:9206 true hsa:5446 NP_000931.1:NM_000940.2 calcium ions Homodimer 2020-06-12T23:06:47Z 2020-07-28T02:24:52Z 0 1 0 88 CDBP00087 Alkaline phosphatase, placental type P05187 PPB1_HUMAN true false Enzyme Homo_sapiens ALPP 535 57953.31 6.289 Involved in catalytic activity 1EW2;1ZEB;1ZED;1ZEF;2GLQ;3MK0;3MK1;3MK2 M13077 178474 ALPP 2 2q37 ALPP HGNC:439 true hsa:250 NP_001623.3:NM_001632.3 magnesium ion;zinc ions Homodimer 2020-06-12T23:06:47Z 2020-07-28T02:24:52Z 0 1 0 89 CDBP00088 Serum paraoxonase/arylesterase 1 P27169 PON1_HUMAN true true Enzyme Homo_sapiens PON1 355 39730.99 5.225 Involved in arylesterase activity Hydrolyzes the toxic metabolites of a variety of organophosphorus insecticides. Capable of hydrolyzing a broad spectrum of organophosphate substrates and lactones, and a number of aromatic carboxylic acid esters. Mediates an enzymatic protection of low density lipoproteins against oxidative modification and the consequent series of events leading to atheroma formation. 1V04;1XHR AC004022 2795823 PON1 7 7q21.3 PON1 HGNC:9204 true hsa:5444 NP_000437.3:NM_000446.5 Plasma, associated with HDL (at protein level). Expressed in liver, but not in heart, brain, placenta, lung, skeletal muscle, kidney or pancreas. calcium ions Homodimer. Heterooligomer with phosphate-binding protein (HPBP). Interacts with CLU 2020-06-12T23:06:47Z 2020-07-28T02:24:52Z 0 0 0 90 CDBP00089 Serum paraoxonase/arylesterase 2 Q15165 PON2_HUMAN true false Enzyme Homo_sapiens PON2 354 39380.535 5.599 Involved in arylesterase activity Capable of hydrolyzing lactones and a number of aromatic carboxylic acid esters. Has antioxidant activity. Is not associated with high density lipoprotein. Prevents LDL lipid peroxidation, reverses the oxidation of mildly oxidized LDL, and inhibits the ability of MM-LDL to induce monocyte chemotaxis. L48513 1333632 PON2 7 7q21.3 PON2 HGNC:9205 true hsa:5445 NP_000296.2:NM_000305.2 Widely expressed with highest expression in liver, lung, placenta, testis and heart. calcium ions Homotrimer 2020-06-12T23:06:47Z 2020-07-28T02:24:52Z 0 1 0 91 CDBP00090 Intestinal-type alkaline phosphatase P09923 PPBI_HUMAN true false Enzyme Homo_sapiens ALPI 528 56811.695 5.859 Involved in catalytic activity ["1-19"] M15694 178432 ALPI 2 2q37.1 ALPI HGNC:437 true hsa:248 NP_001622.2:NM_001631.4 Mg(2+); Zn(2+) Homodimer Cell membrane 2020-06-12T23:06:47Z 2020-07-28T02:24:52Z 0 1 0 92 CDBP00091 Lysosomal acid phosphatase P11117 PPAL_HUMAN true false Enzyme Homo_sapiens ACP2 423 48343.92 6.744 Involved in acid phosphatase activity BC003160 13111975 ACP2 11 11p12-p11 ACP2 HGNC:123 true hsa:53 NP_001601.1:NM_001610.2 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 93 CDBP00092 Low molecular weight phosphotyrosine protein phosphatase P24666 PPAC_HUMAN true false Enzyme Homo_sapiens ACP1 158 18042.315 6.737 Involved in acid phosphatase activity Acts on tyrosine phosphorylated proteins, low-MW aryl phosphates and natural and synthetic acyl phosphates. Isoform 3 does not possess phosphatase activity. 1XWW;3N8I;5PNT M83653 ACP1 2 2p25 ACP1 HGNC:122 true hsa:52 NP_004291.1:NM_004300.3;NP_009030.1:NM_007099.3 T-lymphocytes express only isoform 2. Isoform 1 interacts with the SH3 domain of SPTAN1. There is no interaction observed for isoforms 2 or 3. Interacts with EPHA2; dephosphorylates EPHA2. Interacts with EPHB1 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 94 CDBP00093 Alkaline phosphatase, tissue-nonspecific isozyme P05186 PPBT_HUMAN true false Enzyme Homo_sapiens ALPL 524 57304.435 6.672 Involved in catalytic activity This isozyme may play a role in skeletal mineralization. X14174 28738 ALPL 1 1p36.12 ALPL HGNC:438 true hsa:249 NP_000469.3:NM_000478.4;NP_001120973.2:NM_001127501.2;NP_001170991.1:NM_001177520.1 magnesium ion;zinc ions Homodimer 2020-06-12T23:06:47Z 2020-07-28T02:24:52Z 0 1 0 95 CDBP00094 Tartrate-resistant acid phosphatase type 5 P13686 PPA5_HUMAN true false Enzyme Homo_sapiens ACP5 325 36598.47 8.701 Involved in hydrolase activity Involved in osteopontin/bone sialoprotein dephosphorylation. Its expression seems to increase in certain pathological states such as Gaucher and Hodgkin diseases, the hairy cell, the B-cell, and the T-cell leukemias. 1WAR;2BQ8 J04430 178006 ACP5 19 19p13.2 ACP5 HGNC:124 true hsa:54 NP_001104504.1:NM_001111034.1;NP_001104505.1:NM_001111035.1;NP_001104506.1:NM_001111036.1;NP_001602.1:NM_001611.3 iron ions Exists either as monomer or, after proteolytic processing, as a dimer of two chains linked by disulfide bond(s) 2020-06-12T23:06:47Z 2020-07-28T02:24:52Z 0 0 0 96 CDBP00095 Prostatic acid phosphatase P15309 PPAP_HUMAN true false Enzyme Homo_sapiens ACPP 386 44565.715 6.239 Involved in acid phosphatase activity A non-specific tyrosine phosphatase that dephosphorylates a diverse number of substrates under acidic conditions (pH 4-6) including alkyl, aryl, and acyl orthophosphate monoesters and phosphorylated proteins. Has lipid phosphatase activity and inactivates lysophosphatidic acid in seminal plasma. Isoform 2: the cellular form also has ecto-5'-nucleotidase activity in dorsal root ganglion (DRG) neurons. Generates adenosine from AMP which acts as a pain suppressor. Acts as a tumor suppressor of prostate cancer through dephosphorylation of ERBB2 and deactivation of MAPK-mediated signaling. 1CVI;1ND5;1ND6;2HPA;2L3H;2L77;2L79;3PPD M34840 189621 ACPP 3 3q22.1 ACPP HGNC:125 true hsa:55 NP_001090.2:NM_001099.4;NP_001127666.1:NM_001134194.1 Highly expressed in the prostate, restricted to glandular and ductal epithelial cells. Also expressed in bladder, kidney, pancreas, lung, cervix, testis and ovary. Weak expression in a subset of pancreatic islet cells, squamous epithelia, the pilosebaceous unit, colonic neuroendocrine cells and skin adnexal structures. Isoform 2 also expressed in the sarcolemma of skeletal muscle. Levels of this cellular isoform decreased in prostate cancer. Homodimer; dimer formation is required for phosphatase activity 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 97 CDBP00096 Alkaline phosphatase, placental-like P10696 PPBN_HUMAN true false Enzyme Homo_sapiens ALPPL2 532 57376.515 6.345 Involved in catalytic activity AC068134 62988701 ALPPL2 2 2q37 ALPPL2 HGNC:441 true hsa:251 NP_112603.2:NM_031313.2 Trace amounts in the testis and thymus, and in elevated amounts in germ cell tumors. magnesium ion;zinc ions Homodimer 2020-06-12T23:06:47Z 2020-07-28T02:24:52Z 0 1 0 98 CDBP00097 Macrophage migration inhibitory factor P14174 MIF_HUMAN true false Enzyme Homo_sapiens MIF 115 12476.19 7.885 Involved in cell surface binding Pro-inflammatory cytokine. Involved in the innate immune response to bacterial pathogens. The expression of MIF at sites of inflammation suggests a role as mediator in regulating the function of macrophages in host defense. Counteracts the anti-inflammatory activity of glucocorticoids. Has phenylpyruvate tautomerase and dopachrome tautomerase activity (in vitro), but the physiological substrate is not known. It is not clear whether the tautomerase activity has any physiological relevance, and whether it is important for cytokine activity. 1CA7;1CGQ;1GCZ;1GD0;1GIF;1LJT;1MIF;1P1G;2OOH;2OOW;2OOZ;3B9S;3CE4;3DJH;3DJI;3HOF;3IJG;3IJJ;3JSF;3JSG;3JTU;3L5P;3L5R;3L5S;3L5T;3L5U;3L5V;3SMB;3SMC;3U18;4ETG;4EUI;4EVG;4F2K AF469046 18699569 MIF 22 22q11.23 MIF HGNC:7097 true hsa:4282 NP_002406.1:NM_002415.1 Homotrimer. Interacts with CXCR2 extracellular domain . Interacts with the CD74 extracellular domain, COPS5 and BNIPL 2020-06-12T23:06:47Z 2020-07-28T02:24:52Z 1 0 0 99 CDBP00098 Acetylserotonin O-methyltransferase P46597 HIOM_HUMAN true false Enzyme Homo_sapiens ASMT 345 41660.34 5.693 Involved in O-methyltransferase activity Isoform 1 catalyzes the transfer of a methyl group onto N-acetylserotonin, producing melatonin (N-acetyl-5-methoxytryptamine). Isoform 2 and isoform 3 lack enzyme activity. 4A6D;4A6E AL683807 57209912 ASMT X, Y Xp22.3 or Yp11.3 ASMT HGNC:750 true hsa:438 NP_001164509.1:NM_001171038.1;NP_001164510.1:NM_001171039.1;NP_004034.2:NM_004043.2 Expressed in the pineal gland (at protein level). In the retina, very low expression is found at the mRNA level (PubMed:7989373), and not at the protein level (PubMed:8574683). Homodimer 2020-06-12T23:06:47Z 2020-07-28T02:24:52Z 0 0 0 100 CDBP00099 Long-chain specific acyl-CoA dehydrogenase, mitochondrial P28330 ACADL_HUMAN true false Enzyme Homo_sapiens ACADL 430 47655.275 7.803 Involved in acyl-CoA dehydrogenase activity M74096 177962 ACADL 2 2q34 ACADL HGNC:88 true hsa:33 HS03876-MONOMER NP_001599.1:NM_001608.3 FAD Homotetramer 2020-06-12T23:06:47Z 2020-07-28T02:24:52Z 0 0 0 101 CDBP00100 Short-chain specific acyl-CoA dehydrogenase, mitochondrial P16219 ACADS_HUMAN true false Enzyme Homo_sapiens ACADS 412 44296.705 7.987 Involved in acyl-CoA dehydrogenase activity 2VIG M26393 337928 ACADS 12 12q24.31 ACADS HGNC:90 true hsa:35 HS04619-MONOMER NP_000008.1:NM_000017.2 FAD Homotetramer 2020-06-12T23:06:47Z 2020-07-28T02:24:52Z 0 0 0 102 CDBP00101 Medium-chain specific acyl-CoA dehydrogenase, mitochondrial P11310 ACADM_HUMAN true false Enzyme Homo_sapiens ACADM 421 46587.98 8.363 Involved in acyl-CoA dehydrogenase activity This enzyme is specific for acyl chain lengths of 4 to 16. 1EGC;1EGD;1EGE;1T9G;2A1T M16827 177964 ACADM 1 1p31 ACADM HGNC:89 true hsa:34 HS04089-MONOMER NP_000007.1:NM_000016.4;NP_001120800.1:NM_001127328.1 FAD Homotetramer. Interacts with the heterodimeric electron transfer flavoprotein ETF 2020-06-12T23:06:47Z 2020-07-28T02:24:52Z 0 0 0 103 CDBP00102 Uridine-cytidine kinase 1 Q9HA47 UCK1_HUMAN true false Enzyme Homo_sapiens UCK1 277 22760.43 6.275 Involved in ATP binding Phosphorylates uridine and cytidine to uridine monophosphate and cytidine monophosphate. Does not phosphorylate deoxyribonucleosides or purine ribonucleosides. Can use ATP or GTP as a phosphate donor. Can also phosphorylate cytidine and uridine nucleoside analogs such as 6-azauridine, 5-fluorouridine, 4-thiouridine, 5-bromouridine, N(4)-acetylcytidine, N(4)-benzoylcytidine, 5-fluorocytidine, 2-thiocytidine, 5-methylcytidine, and N(4)-anisoylcytidine. 2JEO;2UVQ NM_031432.2 13899253 UCK1 9 9q34.13 UCK1 HGNC:14859 true hsa:83549 NP_001129426.1:NM_001135954.1;NP_001248379.1:NM_001261450.1;NP_001248380.1:NM_001261451.1;NP_113620.1:NM_031432.2 Ubiquitous. 2020-06-12T23:06:47Z 2020-07-28T02:24:53Z 0 0 0 104 CDBP00103 Nucleoside diphosphate kinase, mitochondrial O00746 NDKM_HUMAN true false Enzyme Homo_sapiens NME4 187 20658.45 10.293 Involved in nucleoside diphosphate kinase activity Major role in the synthesis of nucleoside triphosphates other than ATP (By similarity). 1EHW AE006463 14336697 NME4 16 16p13.3 NME4 HGNC:7852 true hsa:4833 NP_005000.1:NM_005009.2 Widely distributed. Found at very high levels in prostate, heart, liver, small intestine, and skeletal muscle tissues, and in low amounts in the brain and in blood leukocytes. Magnesium Homohexamer. Interacts with CAPN8 2020-06-12T23:06:47Z 2020-07-28T02:24:53Z 0 1 0 105 CDBP00104 Ribonucleoside-diphosphate reductase large subunit P23921 RIR1_HUMAN true false Enzyme Homo_sapiens RRM1 792 90069.375 7.146 Involved in oxidation reduction Provides the precursors necessary for DNA synthesis. Catalyzes the biosynthesis of deoxyribonucleotides from the corresponding ribonucleotides. 2WGH;3HNC;3HND;3HNE;3HNF X59543 36065 RRM1 11 11p15.5 RRM1 HGNC:10451 true hsa:6240 NP_001024.1:NM_001033.3 Heterodimer of a large and a small subunit. Heterodimer with small subunit RRM2 or RRM2B. The heterodimer with RRM2 has higher catalytic activity than the heterodimer with RRM2B 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 106 CDBP00105 Nucleoside diphosphate kinase A P15531 NDKA_HUMAN true false Enzyme Homo_sapiens NME1 152 17148.635 6.186 Involved in nucleoside diphosphate kinase activity Major role in the synthesis of nucleoside triphosphates other than ATP. Possesses nucleoside-diphosphate kinase, serine/threonine-specific protein kinase, geranyl and farnesyl pyrophosphate kinase, histidine protein kinase and 3'-5' exonuclease activities. Involved in cell proliferation, differentiation and development, signal transduction, G protein-coupled receptor endocytosis, and gene expression. Required for neural development including neural patterning and cell fate determination. 1JXV;1UCN;2HVD;2HVE;3L7U NM_000269.2 4557797 NME1 17 17q21.3 NME1 HGNC:7849 true hsa:4830 ENSG00000011052-MONOMER NP_000260.1:NM_000269.2;NP_937818.1:NM_198175.1 Isoform 1 is expressed in heart, brain, placenta, lung, liver, skeletal muscle, pancreas, spleen and thymus. Expressed in lung carcinoma cell lines but not in normal lung tissues. Isoform 2 is ubiquitously expressed and its expression is also related to tumor differentiation. Isoform 3 is ubiquitously expressed. Magnesium Hexamer of two different chains: A and B (A6, A5B, A4B2, A3B3, A2B4, AB5, B6). Interacts with SET and PRUNE 2020-06-12T23:06:47Z 2020-07-28T02:24:53Z 0 0 0 107 CDBP00106 Nucleoside diphosphate kinase 7 Q9Y5B8 NDK7_HUMAN true false Enzyme Homo_sapiens NME7 376 42491.365 6.469 Involved in nucleoside diphosphate kinase activity Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate. AF153191 4960169 NME7 1 1q24 NME7 HGNC:20461 true hsa:29922 NP_037462.1:NM_013330.3;NP_932076.1:NM_197972.1 Magnesium 2020-06-12T23:06:47Z 2020-07-28T02:24:53Z 0 1 0 108 CDBP00107 Ribonucleoside-diphosphate reductase subunit M2 P31350 RIR2_HUMAN true false Enzyme Homo_sapiens RRM2 389 44877.25 5.38 Involved in oxidoreductase activity Provides the precursors necessary for DNA synthesis. Catalyzes the biosynthesis of deoxyribonucleotides from the corresponding ribonucleotides. Inhibits Wnt signaling. 2UW2;3OLJ X59618 36155 RRM2 2 2p25-p24 RRM2 HGNC:10452 true hsa:6241 NP_001025.1:NM_001034.3;NP_001159403.1:NM_001165931.1 iron ions Heterodimer of a large and a small subunit 2020-06-12T23:06:47Z 2020-07-28T02:24:53Z 0 1 1 109 CDBP00108 Nucleoside diphosphate kinase B P22392 NDKB_HUMAN true false Enzyme Homo_sapiens NME2 152 30136.92 8.93 Involved in nucleoside diphosphate kinase activity Major role in the synthesis of nucleoside triphosphates other than ATP. Negatively regulates Rho activity by interacting with AKAP13/LBC. Acts as a transcriptional activator of the MYC gene; binds DNA non-specifically (PubMed:8392752). Exhibits histidine protein kinase activity. 1NSK;1NUE;3BBB;3BBC;3BBF X58965 4467843 NME2 17 17q21.3 NME2 HGNC:7850 true hsa:654364 HS04463-MONOMER NP_001018146.1:NM_001018136.2;NP_001018147.1:NM_001018137.2;NP_001018148.1:NM_001018138.1;NP_001018149.1:NM_001018139.2;NP_002503.1:NM_002512.3 Ubiquitously expressed. Magnesium Hexamer of two different chains: A and B (A6, A5B, A4B2, A3B3, A2B4, AB5, B6). Interacts with CAPN8 . Interacts with AKAP13 2020-06-12T23:06:47Z 2020-07-28T02:24:53Z 0 1 1 110 CDBP00109 Nucleoside diphosphate kinase 3 Q13232 NDK3_HUMAN true false Enzyme Homo_sapiens NME3 169 19014.85 7.834 Involved in nucleoside diphosphate kinase activity Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate. Probably has a role in normal hematopoiesis by inhibition of granulocyte differentiation and induction of apoptosis. 1ZS6 AE006639 14336763 NME3 16 16q13.3 NME3 HGNC:7851 true hsa:4832 NP_002504.2:NM_002513.2 Magnesium 2020-06-12T23:06:47Z 2020-07-28T02:24:53Z 0 1 0 111 CDBP00110 Nucleoside diphosphate kinase 6 O75414 NDK6_HUMAN true false Enzyme Homo_sapiens NME6 186 22002.965 7.96 Involved in nucleoside diphosphate kinase activity Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate. Inhibitor of p53-induced apoptosis. AF051941 3228530 NME6 3 3p21 NME6 HGNC:20567 true hsa:10201 NP_005784.1:NM_005793.3 Expressed at a moderately low level in many tissues. Most abundant in kidney, prostate, ovary, intestine, and spleen. Magnesium 2020-06-12T23:06:47Z 2020-07-28T02:24:53Z 0 1 0 112 CDBP00111 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10 O96000 NDUBA_HUMAN true false Enzyme Homo_sapiens NDUFB10 172 20776.5 8.65 Involved in NADH dehydrogenase (ubiquinone) activity Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone ["None"] ["None"] AF044954 4164442 NDUFB10 Chromosome:1 16p13.3 NDUFB10 HGNC:7696 true 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 113 CDBP00112 NADH-ubiquinone oxidoreductase chain 1 P03886 NU1M_HUMAN true false Enzyme Homo_sapiens MT-ND1 318 35660.055 6.554 Involved in oxidation reduction Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). V00662 13004 MT-ND1 MT-ND1 HGNC:7455 true hsa:4535 YP_003024026.1:NC_012920.1 2020-06-12T23:06:47Z 2020-07-28T02:24:53Z 0 0 0 114 CDBP00113 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 1 O75438 NDUB1_HUMAN true false Enzyme Homo_sapiens NDUFB1 58 6961.2 9.34 Involved in NADH dehydrogenase activity Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone ["None"] ["11-27"] AF050638 5326820 NDUFB1 Chromosome:1 14q32.12 NDUFB1 HGNC:7695 true 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 115 CDBP00114 Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 P22413 ENPP1_HUMAN true false Enzyme Homo_sapiens ENPP1 925 104923.58 7.136 Involved in catalytic activity Involved primarily in ATP hydrolysis at the plasma membrane. Plays a role in regulating pyrophosphate levels, and functions in bone mineralization and soft tissue calcification. In vitro, has a broad specificity, hydrolyzing other nucleoside 5' triphosphates such as GTP, CTP, TTP and UTP to their corresponding monophosphates with release of pyrophosphate and diadenosine polyphosphates, and also 3',5'-cAMP to AMP. May also be involved in the regulation of the availability of nucleotide sugars in the endoplasmic reticulum and Golgi, and the regulation of purinergic signaling. Appears to modulate insulin sensitivity. 2YS0 NM_006208.2 170650661 ENPP1 6 6q22-q23 ENPP1 HGNC:3356 true hsa:5167 NP_006199.2:NM_006208.2 Expressed in plasma cells and also in a number of non-lymphoid tissues, including the distal convoluted tubule of the kidney, chondrocytes and epididymis. divalent metal cations Homodimer; disulfide-linked. Interacts with INSR 2020-06-12T23:06:47Z 2020-07-28T02:24:54Z 1 1 0 116 CDBP00115 NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial O75306 NDUS2_HUMAN true false Enzyme Homo_sapiens NDUFS2 463 51851.59 8.145 Involved in oxidoreductase activity, acting on NADH or NADPH Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). AF050640 NDUFS2 1 1q23 NDUFS2 HGNC:7708 true hsa:4720 NP_001159631.1:NM_001166159.1;NP_004541.1:NM_004550.4 4Fe-4S cluster Complex I is composed of 45 different subunits. Component of the iron-sulfur (IP) fragment of the enzyme. Interacts with NDUFAF3 and NDUFAF7 2020-06-12T23:06:47Z 2020-07-28T02:24:54Z 0 1 0 117 CDBP00116 Succinate dehydrogenase cytochrome b560 subunit, mitochondrial Q99643 C560_HUMAN true false Enzyme Homo_sapiens SDHC 169 16650.185 9.307 Involved in succinate dehydrogenase activity Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). U57877 78096641 SDHC 1 1q23.3 SDHC HGNC:10682 true hsa:6391 HS07014-MONOMER NP_001030588.1:NM_001035511.1;NP_001030589.1:NM_001035512.1;NP_001030590.1:NM_001035513.1;NP_002992.1:NM_003001.3 Heme group. The heme is bound between the two transmembrane subunits SDHC and SDHD Component of complex II composed of four subunits: the flavoprotein (FP) SDHA, iron-sulfur protein (IP) SDHB, and a cytochrome b560 composed of SDHC and SDHD 2020-06-12T23:06:47Z 2020-07-28T02:24:54Z 0 1 0 118 CDBP00117 Peroxisomal sarcosine oxidase Q9P0Z9 SOX_HUMAN true false Enzyme Homo_sapiens PIPOX 390 44065.515 8.416 Involved in oxidoreductase activity Metabolizes sarcosine, L-pipecolic acid and L-proline. AF134593 7157903 PIPOX 17 17q11.2 PIPOX HGNC:17804 true hsa:51268 NP_057602.2:NM_016518.2 FAD Monomer 2020-06-12T23:06:47Z 2020-07-28T02:24:54Z 0 0 0 119 CDBP00118 Peroxisomal N(1)-acetyl-spermine/spermidine oxidase Q6QHF9 PAOX_HUMAN true false Enzyme Homo_sapiens PAOX 649 55512.64 5.233 Amino acid transport and metabolism Flavoenzyme which catalyzes the oxidation of N(1)-acetylspermine to spermidine and is thus involved in the polyamine back-conversion. Can also oxidize N(1)-acetylspermidine to putrescine. Substrate specificity: N(1)-acetylspermine = N(1)-acetylspermidine > N(1),N(12)-diacylspermine >> spermine. Does not oxidize spermidine. Plays an important role in the regulation of polyamine intracellular concentration and has the potential to act as a determinant of cellular sensitivity to the antitumor polyamine analogs. AY541520 45439842 PAOX 10 10q26.3 PAOX HGNC:20837 true hsa:196743 NP_690875.1:NM_152911.2;NP_997010.1:NM_207127.1;NP_997011.1:NM_207128.1 Widely expressed. Not detected in spleen. Expressed at lower level in neoplastic tissues. FAD Monomer 2020-06-12T23:06:47Z 2020-07-28T02:24:54Z 0 0 0 120 CDBP00119 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 Q9UI09 NDUAC_HUMAN true false Enzyme Homo_sapiens NDUFA12 145 17114.4 10.1 Involved in NADH dehydrogenase (ubiquinone) activity Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone ["None"] ["None"] AF217092 NDUFA12 Chromosome:1 12q22 NDUFA12 HGNC:23987 true 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 121 CDBP00120 NADH-cytochrome b5 reductase 3 P00387 NB5R3_HUMAN true false Enzyme Homo_sapiens CYB5R3 301 34234.55 7.599 Involved in oxidoreductase activity Desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction. 1M91;1UMK Y09501 1695155 CYB5R3 22 22q13.2 CYB5R3 HGNC:2873 true hsa:1727 HS02015-MONOMER NP_000389.1:NM_000398.6;NP_001123291.1:NM_001129819.2;NP_001165131.1:NM_001171660.1;NP_001165132.1:NM_001171661.1;NP_015565.1:NM_007326.4 Isoform 2 is expressed at late stages of erythroid maturation. FAD Component of a complex composed of cytochrome b5, NADH-cytochrome b5 reductase (CYB5R3) and MOSC2 2020-06-12T23:06:47Z 2020-07-28T02:24:54Z 0 0 0 122 CDBP00121 Aldehyde oxidase Q06278 ADO_HUMAN true false Enzyme Homo_sapiens AOX1 1338 147916.735 7.166 Involved in oxidoreductase activity NM_001159.3 71773480 AOX1 2 2q33 AOX1 HGNC:553 true hsa:316 ENSG00000138356-MONOMER NP_001150.3:NM_001159.3 Abundant in liver, lower levels in lung, skeletal muscle, pancreas. Undetected in heart, brain and kidney. 2Fe-2S clusters;FAD;Molybdopterin Homodimer 2020-06-12T23:06:47Z 2020-07-28T02:24:54Z 0 1 0 123 CDBP00122 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1 O15239 NDUA1_HUMAN true false Enzyme Homo_sapiens NDUFA1 70 8072.3 9.12 Involved in NADH dehydrogenase (ubiquinone) activity Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone ["None"] ["1-21"] BC000266 12653011 NDUFA1 NDUFA1 HGNC:7683 true 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 124 CDBP00123 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4-like 2 Q9NRX3 NUA4L_HUMAN true false Enzyme Homo_sapiens NDUFA4L2 87 9965.6 10.46 ["None"] ["None"] AF164796 8895095 NDUFA4L2 Chromosome:1 12q13.3 NDUFA4L2 HGNC:29836 true 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 125 CDBP00124 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3 O95167 NDUA3_HUMAN true false Enzyme Homo_sapiens NDUFA3 84 9278.8 8.92 Involved in NADH dehydrogenase (ubiquinone) activity Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone ["None"] ["19-39"] AF044955 4164444 NDUFA3 Chromosome:1 19q13.42 NDUFA3 HGNC:7686 true 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 126 CDBP00125 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8 P51970 NDUA8_HUMAN true false Enzyme Homo_sapiens NDUFA8 172 20104.9 7.74 Involved in NADH dehydrogenase (ubiquinone) activity Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone ["None"] ["None"] AF044953 5326825 NDUFA8 Chromosome:9 9q33.2 NDUFA8 HGNC:7692 true 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 127 CDBP00126 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4 O00483 NDUA4_HUMAN true false Enzyme Homo_sapiens NDUFA4 81 9369.8 9.84 Involved in NADH dehydrogenase (ubiquinone) activity Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed to be not involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone ["None"] ["None"] AF201077 6456749 NDUFA4 Chromosome:7 7p21.3 NDUFA4 HGNC:7687 true 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 128 CDBP00127 NADH-ubiquinone oxidoreductase chain 4L P03901 NU4LM_HUMAN true false Enzyme Homo_sapiens MT-ND4L 98 10741.005 6.209 Involved in oxidoreductase activity, acting on NADH or NADPH Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). J01415 MT-ND4L MT-ND4L HGNC:7460 true hsa:4539 YP_003024034.1:NC_012920.1 2020-06-12T23:06:47Z 2020-07-28T02:24:54Z 0 0 0 129 CDBP00128 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11 Q86Y39 NDUAB_HUMAN true true Enzyme Homo_sapiens NDUFA11 141 14852.0 8.89 Involved in protein transporter activity Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone ["None"] ["21-43", "58-80"] AJ539081 28170654 NDUFA11 Chromosome:1 19p13.3 NDUFA11 HGNC:20371 true 2020-06-12T23:06:47Z 2020-07-28T02:24:54Z 0 0 0 130 CDBP00129 Thioredoxin reductase 1, cytoplasmic Q16881 TRXR1_HUMAN true false Enzyme Homo_sapiens TXNRD1 649 70905.58 7.385 Involved in oxidoreductase activity Isoform 1 may possess glutaredoxin activity as well as thioredoxin reductase activity and induces actin and tubulin polymerization, leading to formation of cell membrane protrusions. Isoform 4 enhances the transcriptional activity of estrogen receptors alpha and beta while isoform 5 enhances the transcriptional activity of the beta receptor only. Isoform 5 also mediates cell death induced by a combination of interferon-beta and retinoic acid. 1W1C;2CFY;2J3N;2ZZ0;2ZZB;2ZZC;3QFA;3QFB NM_001093771.1 148277071 TXNRD1 12 12q23-q24.1 TXNRD1 HGNC:12437 true hsa:7296 NP_001087240.1:NM_001093771.2;NP_001248374.1:NM_001261445.1;NP_001248375.1:NM_001261446.1;NP_003321.3:NM_003330.3;NP_877393.1:NM_182729.2;NP_877419.1:NM_182742.2;NP_877420.1:NM_182743.2 Isoform 1 is expressed predominantly in Leydig cells (at protein level). Also expressed in ovary, spleen, heart, liver, kidney and pancreas and in a number of cancer cell lines. Isoform 4 is widely expressed with highest levels in kidney, testis, uterus, ovary, prostate, placenta and fetal liver. FAD Homodimer. Isoform 4 interacts with ESR1 and ESR2. Interacts with HERC5 2020-06-12T23:06:47Z 2020-07-28T02:24:54Z 0 0 0 131 CDBP00130 Lathosterol oxidase O75845 SC5D_HUMAN true false Enzyme Homo_sapiens SC5DL 299 35300.55 8.074 Involved in iron ion binding Catalyzes a dehydrogenation to introduce C5-6 double bond into lathosterol. AB016247 3721882 SC5DL 11 11q23.3 SC5DL HGNC:10547 true hsa:6309 HS03271-MONOMER NP_001020127.1:NM_001024956.2;NP_008849.2:NM_006918.4 Iron 2020-06-12T23:06:47Z 2020-07-28T02:24:54Z 0 1 0 132 CDBP00131 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 2, mitochondrial O95178 NDUB2_HUMAN true false Enzyme Homo_sapiens NDUFB2 105 12058.4 5.55 Involved in NADH dehydrogenase (ubiquinone) activity Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone ["None"] ["None"] AF050639 4164454 NDUFB2 Chromosome:7 7q34 NDUFB2 HGNC:7697 true 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 133 CDBP00132 NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial O43181 NDUS4_HUMAN true false Enzyme Homo_sapiens NDUFS4 175 20107.8 11.02 Involved in oxidoreductase activity, acting on NADH or NADPH Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone ["None"] ["None"] AF020351 NDUFS4 Chromosome:5 5q11.1 NDUFS4 HGNC:7711 true 2020-06-12T23:06:47Z 2020-07-28T02:24:54Z 0 0 0 134 CDBP00133 Ribosyldihydronicotinamide dehydrogenase [quinone] P16083 NQO2_HUMAN true false Enzyme Homo_sapiens NQO2 231 25918.4 6.289 Involved in electron carrier activity The enzyme apparently serves as a quinone reductase in connection with conjugation reactions of hydroquinones involved in detoxification pathways as well as in biosynthetic processes such as the vitamin K-dependent gamma-carboxylation of glutamate residues in prothrombin synthesis. 1QR2;1SG0;1XI2;1ZX1;2BZS;2QMY;2QMZ;2QR2;2QWX;2QX4;2QX6;2QX8;2QX9;3FW1;3G5M;3GAM;3NFR;3NHF;3NHJ;3NHK;3NHL;3NHP;3NHR;3NHS;3NHU;3NHW;3NHY;3O2N;3O73;3OVM;3OWH;3OWX;3OX1;3OX2;3OX3;3TE7;3TEM;3TZB;3UXE;3UXH J02888 NQO2 6 6p25.2 NQO2 HGNC:7856 true hsa:4835 NP_000895.2:NM_000904.3 zinc ion;FAD Homodimer 2020-06-12T23:06:47Z 2020-07-28T02:24:55Z 0 1 0 135 CDBP00134 NADH-ubiquinone oxidoreductase chain 5 P03915 NU5M_HUMAN true false Enzyme Homo_sapiens MT-ND5 603 67025.67 9.021 Involved in NADH dehydrogenase (ubiquinone) activity Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). J01415 MT-ND5 MT-ND5 HGNC:7461 true hsa:4540 YP_003024036.1:NC_012920.1 2020-06-12T23:06:47Z 2020-07-28T02:24:55Z 0 0 0 136 CDBP00135 NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial O75489 NDUS3_HUMAN true false Enzyme Homo_sapiens NDUFS3 264 30241.245 7.497 Involved in oxidoreductase activity, acting on NADH or NADPH Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). AF067139 NDUFS3 11 11p11.11 NDUFS3 HGNC:7710 true hsa:4722 NP_004542.1:NM_004551.2 Mammalian complex I is composed of 45 different subunits. Interacts with NDUFAF3 2020-06-12T23:06:47Z 2020-07-28T02:24:55Z 0 0 0 137 CDBP00136 NADH dehydrogenase [ubiquinone] iron-sulfur protein 5 O43920 NDUS5_HUMAN true false Enzyme Homo_sapiens NDUFS5 106 12517.4 9.54 Involved in NADH dehydrogenase (ubiquinone) activity Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone ["None"] ["None"] AF047434 NDUFS5 Chromosome:1 1p34.2-p33 NDUFS5 HGNC:7712 true 2020-06-12T23:06:47Z 2020-07-28T02:24:55Z 0 0 0 138 CDBP00137 NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial P19404 NDUV2_HUMAN true false Enzyme Homo_sapiens NDUFV2 249 27391.36 8.067 Involved in oxidoreductase activity Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). BC001632 12804451 NDUFV2 18 18p11.22 NDUFV2 HGNC:7717 true hsa:4729 NP_066552.2:NM_021074.4 2Fe-2S cluster Complex I is composed of 45 different subunits. This is a component of the flavoprotein-sulfur (FP) fragment of the enzyme 2020-06-12T23:06:47Z 2020-07-28T02:24:55Z 0 1 0 139 CDBP00138 Dimethylaniline monooxygenase [N-oxide-forming] 5 P49326 FMO5_HUMAN true false Enzyme Homo_sapiens FMO5 533 32480.04 8.313 Involved in flavin-containing monooxygenase activity In contrast with other forms of FMO it does not seem to be a drug-metabolizing enzyme. AK314647 189054435 FMO5 1 1q21.1 FMO5 HGNC:3773 true hsa:2330 NP_001138302.1:NM_001144830.1;NP_001452.2:NM_001461.2;XP_003960188.1:XM_003960139.1;XP_003960189.1:XM_003960140.1;XP_003960190.1:XM_003960141.1;XP_003960191.1:XM_003960142.1;XP_003960192.1:XM_003960143.1;XP_003960193.1:XM_003960144.1 Expressed in fetal and adult liver. FAD 2020-06-12T23:06:47Z 2020-07-28T02:24:55Z 0 0 0 140 CDBP00139 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial O95299 NDUAA_HUMAN true false Enzyme Homo_sapiens NDUFA10 355 40750.3 8.68 Involved in ATP binding Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone ["None"] ["None"] AF087661 NDUFA10 Chromosome:2 2q37.3 NDUFA10 HGNC:7684 true 2020-06-12T23:06:47Z 2020-07-28T02:24:55Z 0 0 0 141 CDBP00140 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6 P56556 NDUA6_HUMAN true false Enzyme Homo_sapiens NDUFA6 154 17870.7 10.82 Involved in NADH dehydrogenase (ubiquinone) activity Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed to be not involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone ["None"] ["None"] NM_002490.3 51317370 NDUFA6 Chromosome:2 22q13.2 NDUFA6 HGNC:7690 true 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 142 CDBP00141 Peroxisomal acyl-coenzyme A oxidase 1 Q15067 ACOX1_HUMAN true false Enzyme Homo_sapiens ACOX1 660 70135.205 7.607 Involved in acyl-CoA dehydrogenase activity Catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. Isoform 1 shows highest activity against medium-chain fatty acyl-CoAs and activity decreases with increasing chain length. Isoform 2 is active against a much broader range of substrates and shows activity towards very long-chain acyl-CoAs. Isoform 2 is twice as active as isoform 1 against 16-hydroxy-palmitoyl-CoA and is 25% more active against 1,16-hexadecanodioyl-CoA. BC008767 14250616 ACOX1 17 17q25.1 ACOX1 HGNC:119 true hsa:51 HS08589-MONOMER NP_001171968.1:NM_001185039.1;NP_004026.2:NM_004035.6;NP_009223.2:NM_007292.5 Widely expressed with highest levels of isoform 1 and isoform 2 detected in testis. Isoform 1 is expressed at higher levels than isoform 2 in liver and kidney while isoform 2 levels are higher in brain, lung, muscle, white adipose tissue and testis. Levels are almost equal in heart. FAD 2020-06-12T23:06:47Z 2020-07-28T02:24:55Z 0 0 0 143 CDBP00142 D-aspartate oxidase Q99489 OXDD_HUMAN true false Enzyme Homo_sapiens DDO 341 40992.53 8.202 Involved in D-amino-acid oxidase activity Selectively catalyzes the oxidative deamination of D-aspartate and its N-methylated derivative, N-methyl D-aspartate. NM_003649 40217815 DDO 6 6q21 DDO HGNC:2727 true hsa:8528 NP_003640.2:NM_003649.2;NP_004023.2:NM_004032.2 FAD or 6-hydroxyflavin adenine dinucleotide 2020-06-12T23:06:47Z 2020-07-28T02:24:55Z 0 0 0 144 CDBP00143 NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial P56181 NDUV3_HUMAN true false Enzyme Homo_sapiens NDUFV3 108 11940.4 10.3 Involved in NADH dehydrogenase (ubiquinone) activity Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone ["None"] ["None"] CR542174 49457344 NDUFV3 Chromosome:2 21q22.3 NDUFV3 HGNC:7719 true 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 145 CDBP00144 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 4 O95168 NDUB4_HUMAN true false Enzyme Homo_sapiens NDUFB4 129 15208.4 10.24 Involved in NADH dehydrogenase (ubiquinone) activity Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone ["None"] ["88-105"] AF044957 NDUFB4 Chromosome:3 3q13.33 NDUFB4 HGNC:7699 true 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 146 CDBP00145 Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial P31040 DHSA_HUMAN true false Enzyme Homo_sapiens SDHA 664 72690.975 7.385 Involved in electron carrier activity Flavoprotein (FP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). Can act as a tumor suppressor. D30648 SDHA 5 5p15 SDHA HGNC:10680 true hsa:6389 ENSG00000073578-MONOMER NP_004159.2:NM_004168.2 FAD Component of complex II composed of four subunits: the flavoprotein (FP) SDHA, iron-sulfur protein (IP) SDHB, and a cytochrome b560 composed of SDHC and SDHD. Interacts with SDHAF2/SDH5; interaction is required for FAD attachment 2020-06-12T23:06:47Z 2020-07-28T02:24:55Z 0 0 0 147 CDBP00146 Heme oxygenase 2 P30519 HMOX2_HUMAN true false Enzyme Homo_sapiens HMOX2 316 36032.615 5.41 Involved in heme oxygenase (decyclizing) activity Heme oxygenase cleaves the heme ring at the alpha methene bridge to form biliverdin. Biliverdin is subsequently converted to bilirubin by biliverdin reductase. Under physiological conditions, the activity of heme oxygenase is highest in the spleen, where senescent erythrocytes are sequestrated and destroyed. Heme oxygenase 2 could be implicated in the production of carbon monoxide in brain where it could act as a neurotransmitter. 2Q32;2QPP;2RGZ NM_001127204.1 187761307 HMOX2 16 16p13.3 HMOX2 HGNC:5014 true hsa:3163 NP_001120676.1:NM_001127204.1;NP_001120677.1:NM_001127205.1;NP_001120678.1:NM_001127206.1;NP_002125.3:NM_002134.3 2020-06-12T23:06:47Z 2020-07-28T02:24:55Z 0 1 0 148 CDBP00147 NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial O00217 NDUS8_HUMAN true false Enzyme Homo_sapiens NDUFS8 210 23704.795 6.342 Involved in electron carrier activity Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). May donate electrons to ubiquinone. U65579 1935056 NDUFS8 11 11q13 NDUFS8 HGNC:7715 true hsa:4728 NP_002487.1:NM_002496.3 4Fe-4S clusters Mammalian complex I is composed of 45 different subunits 2020-06-12T23:06:47Z 2020-07-28T02:24:55Z 0 1 0 149 CDBP00148 Squalene monooxygenase Q14534 ERG1_HUMAN true false Enzyme Homo_sapiens SQLE 574 63922.505 8.628 Involved in oxidoreductase activity Catalyzes the first oxygenation step in sterol biosynthesis and is suggested to be one of the rate-limiting enzymes in this pathway. NM_003129.3 62865635 SQLE 8 8q24.1 SQLE HGNC:11279 true hsa:6713 HS02595-MONOMER NP_003120.2:NM_003129.3 FAD May form a complex with squalene synthase 2020-06-12T23:06:47Z 2020-07-28T02:24:55Z 0 0 0 150 CDBP00149 NADH-ubiquinone oxidoreductase chain 2 P03891 NU2M_HUMAN true false Enzyme Homo_sapiens MT-ND2 347 38960.47 9.839 Involved in NADH dehydrogenase (ubiquinone) activity Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). J01415 MT-ND2 MT-ND2 HGNC:7456 true hsa:4536 YP_003024027.1:NC_012920.1 2020-06-12T23:06:47Z 2020-07-28T02:24:55Z 0 0 0 151 CDBP00150 Dimethylaniline monooxygenase [N-oxide-forming] 2 Q99518 FMO2_HUMAN true false Enzyme Homo_sapiens FMO2 535 53643.29 7.203 Involved in flavin-containing monooxygenase activity Catalyzes the N-oxidation of certain primary alkylamines to their oximes via an N-hydroxylamine intermediate. Inactive toward certain tertiary amines, such as imipramine or chloropromazine. Can catalyze the S-oxidation of methimazole. The truncated form is catalytically inactive. BT006979 4503757 FMO2 1 1q24.3 FMO2 HGNC:3770 true hsa:2327 NP_001451.1:NM_001460.2 Expressed in lung (at protein level). Expressed predominantly in lung, and at a much lesser extent in kidney. Also expressed in fetal lung, but not in liver, kidney and brain. FAD;Magnesium 2020-06-12T23:06:47Z 2020-07-28T02:24:56Z 0 0 0 152 CDBP00151 Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial P30038 AL4A1_HUMAN true false Enzyme Homo_sapiens ALDH4A1 563 55117.24 6.797 Involved in oxidoreductase activity Irreversible conversion of delta-1-pyrroline-5-carboxylate (P5C), derived either from proline or ornithine, to glutamate. This is a necessary step in the pathway interconnecting the urea and tricarboxylic acid cycles. The preferred substrate is glutamic gamma-semialdehyde, other substrates include succinic, glutaric and adipic semialdehydes. 3V9G;3V9H;3V9I AK222486 62896531 ALDH4A1 1 1p36 ALDH4A1 HGNC:406 true hsa:8659 HS14757-MONOMER NP_001154976.1:NM_001161504.1;NP_003739.2:NM_003748.3;NP_733844.1:NM_170726.2 Highest expression is found in liver followed by skeletal muscle, kidney, heart, brain, placenta, lung and pancreas. Homodimer 2020-06-12T23:06:47Z 2020-07-28T02:24:56Z 0 0 0 153 CDBP00152 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 7 O95182 NDUA7_HUMAN true false Enzyme Homo_sapiens NDUFA7 113 12551.3 10.8 Involved in NADH dehydrogenase (ubiquinone) activity Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone ["None"] ["None"] AF050637 NDUFA7 Chromosome:1 19p13.2 NDUFA7 HGNC:7691 true 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 154 CDBP00153 Thioredoxin reductase 2, mitochondrial Q9NNW7 TRXR2_HUMAN true false Enzyme Homo_sapiens TXNRD2 524 56506.275 7.509 Involved in oxidoreductase activity Maintains thioredoxin in a reduced state. Implicated in the defenses against oxidative stress. May play a role in redox-regulated cell signaling. 1W1E AF171054 TXNRD2 22 22q11.21 TXNRD2 HGNC:18155 true hsa:10587 NP_006431.2:NM_006440.3 Highly expressed in the prostate, ovary, liver, testis, uterus, colon and small intestine. Intermediate levels in brain, skeletal muscle, heart and spleen. Low levels in placenta, pancreas, thymus and peripheral blood leukocytes. According to PubMed:10608886, high levels in kidney, whereas according to PubMed:9923614, levels are low. FAD Homodimer 2020-06-12T23:06:47Z 2020-07-28T02:24:56Z 0 0 0 155 CDBP00154 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 O43678 NDUA2_HUMAN true false Enzyme Homo_sapiens NDUFA2 99 10921.4 10.11 Involved in NADH dehydrogenase (ubiquinone) activity Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone ["None"] ["None"] 1S3A AB054976 12539408 NDUFA2 Chromosome:5 5q31 NDUFA2 HGNC:7685 true 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 156 CDBP00155 Methionine synthase Q99707 METH_HUMAN true false Enzyme Homo_sapiens MTR 1265 140525.91 5.581 Involved in cobalamin binding Catalyzes the transfer of a methyl group from methyl-cobalamin to homocysteine, yielding enzyme-bound cob(I)alamin and methionine. Subsequently, remethylates the cofactor using methyltetrahydrofolate (By similarity). 2O2K U71285 MTR 1 1q43 MTR HGNC:7468 true hsa:4548 NP_000245.2:NM_000254.2 Widely expressed. Expressed at the highest levels in pancreas, heart, brain, skeletal muscle and placenta. Expressed at lower levels in lung, liver and kidney. Methylcobalamin (MeCBL);zinc ion 2020-06-12T23:06:47Z 2020-07-28T02:24:56Z 0 1 0 157 CDBP00156 Amine oxidase [flavin-containing] B P27338 AOFB_HUMAN true false Enzyme Homo_sapiens MAOB 520 58762.475 7.5 Involved in oxidoreductase activity Catalyzes the oxidative deamination of biogenic and xenobiotic amines and has important functions in the metabolism of neuroactive and vasoactive amines in the central nervous system and peripheral tissues. MAOB preferentially degrades benzylamine and phenylethylamine. 1GOS;1H8R;1OJ9;1OJA;1OJC;1OJD;1S2Q;1S2Y;1S3B;1S3E;2BK3;2BK4;2BK5;2BYB;2C64;2C65;2C66;2C67;2C70;2C72;2C73;2C75;2C76;2V5Z;2V60;2V61;2VRL;2VRM;2VZ2;2XCG;2XFN;2XFO;2XFP;2XFQ;2XFU;3PO7;3ZYX;4A79;4A7A S62734 MAOB X Xp11.23 MAOB HGNC:6834 true hsa:4129 HS00966-MONOMER NP_000889.3:NM_000898.4 FAD Monomer, homo- or heterodimer (containing two subunits of similar size). Each subunit contains a covalently bound flavin. Enzymatically active as monomer 2020-06-12T23:06:47Z 2020-07-28T02:24:56Z 0 0 0 158 CDBP00157 NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial P28331 NDUS1_HUMAN true false Enzyme Homo_sapiens NDUFS1 727 67523.595 5.325 Involved in electron carrier activity Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). This is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. X61100 38079 NDUFS1 2 2q33-q34 NDUFS1 HGNC:7707 true hsa:4719 NP_001186911.1:NM_001199982.1;NP_001186912.1:NM_001199983.1;NP_001186913.1:NM_001199984.1;NP_004997.4:NM_005006.6 2Fe-2S cluster;4Fe-4S clusters Complex I is composed of 45 different subunits 2020-06-12T23:06:47Z 2020-07-28T02:24:56Z 0 1 0 159 CDBP00158 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 5, mitochondrial O43674 NDUB5_HUMAN true false Enzyme Homo_sapiens NDUFB5 189 21750.0 10.02 Involved in NADH dehydrogenase (ubiquinone) activity Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone ["None"] ["73-93"] AF047181 2909854 NDUFB5 Chromosome:3 3q26.33 NDUFB5 HGNC:7700 true 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 160 CDBP00159 Peroxisomal acyl-coenzyme A oxidase 2 Q99424 ACOX2_HUMAN true false Enzyme Homo_sapiens ACOX2 681 76826.14 7.559 Involved in acyl-CoA dehydrogenase activity Oxidizes the CoA esters of the bile acid intermediates di- and tri-hydroxycholestanoic acids. X95190 1780991 ACOX2 3 3p14.3 ACOX2 HGNC:120 true hsa:8309 HS09732-MONOMER NP_003491.1:NM_003500.3 Present in all tissues tested: heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Most abundant in heart, liver and kidney. FAD Heterodimer 2020-06-12T23:06:47Z 2020-07-28T02:24:56Z 0 0 0 161 CDBP00160 Dimethylaniline monooxygenase [N-oxide-forming] 4 P31512 FMO4_HUMAN true false Enzyme Homo_sapiens FMO4 558 63342.055 8.457 Involved in flavin-containing monooxygenase activity This protein is involved in the oxidative metabolism of a variety of xenobiotics such as drugs and pesticides. AL031274 4753758 FMO4 1 1q24.3 FMO4 HGNC:3772 true hsa:2329 NP_002013.1:NM_002022.1 Liver. FAD 2020-06-12T23:06:47Z 2020-07-28T02:24:56Z 0 0 0 162 CDBP00161 Isovaleryl-CoA dehydrogenase, mitochondrial P26440 IVD_HUMAN true false Enzyme Homo_sapiens IVD 423 43055.325 7.672 Involved in acyl-CoA dehydrogenase activity 1IVH M34192 306897 IVD 15 15q14-q15 IVD HGNC:6186 true hsa:3712 NP_001152980.1:NM_001159508.1;NP_002216.2:NM_002225.3 FAD Homotetramer 2020-06-12T23:06:47Z 2020-07-28T02:24:56Z 0 0 0 163 CDBP00162 Ectonucleotide pyrophosphatase/phosphodiesterase family member 2 Q13822 ENPP2_HUMAN true false Enzyme Homo_sapiens ENPP2 863 98992.78 7.378 Involved in catalytic activity Hydrolyzes lysophospholipids to produce lysophosphatidic acid (LPA) in extracellular fluids. Major substrate is lysophosphatidylcholine. Also can act on sphingosylphosphphorylcholine producing sphingosine-1-phosphate, a modulator of cell motility. Can hydrolyze, in vitro, bis-pNPP, to some extent pNP-TMP, and barely ATP. Involved in several motility-related processes such as angiogenesis and neurite outgrowth. Acts as an angiogenic factor by stimulating migration of smooth muscle cells and microtubule formation. Stimulates migration of melanoma cells, probably via a pertussis toxin-sensitive G protein. May have a role in induction of parturition. Possible involvement in cell proliferation and adipose tissue development. Tumor cell motility-stimulating factor. NM_001040092.1 91823602 ENPP2 8 8q24.1 ENPP2 HGNC:3357 true hsa:5168 NP_001035181.1:NM_001040092.2;NP_001124335.1:NM_001130863.2;NP_006200.3:NM_006209.4 Predominantly expressed in brain, placenta, ovary, and small intestine. Expressed in a number of carcinomas such as hepatocellular and prostate carcinoma, neuroblastoma and non-small-cell lung cancer. Expressed in body fluids such as plasma, cerebral spinal fluid (CSF), saliva, follicular and amniotic fluids. Not detected in leukocytes. Isoform 1 is more highly expressed in peripheral tissues than in the central nervous system (CNS). Adipocytes only express isoform 1. Isoform 3 is more highly expressed in the brain than in peripheral tissues. zinc ions;calcium ion 2020-06-12T23:06:47Z 2020-07-28T02:24:56Z 1 1 1 164 CDBP00163 NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial O43677 NDUC1_HUMAN true false Enzyme Homo_sapiens NDUFC1 76 8734.2 10.77 Involved in NADH dehydrogenase (ubiquinone) activity Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone ["None"] ["41-59"] AF047184 2909860 NDUFC1 Chromosome:4 4q31.1 NDUFC1 HGNC:7705 true 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 165 CDBP00164 Amine oxidase [flavin-containing] A P21397 AOFA_HUMAN true false Enzyme Homo_sapiens MAOA 527 59681.27 7.862 Involved in oxidoreductase activity Catalyzes the oxidative deamination of biogenic and xenobiotic amines and has important functions in the metabolism of neuroactive and vasoactive amines in the central nervous system and peripheral tissues. MAOA preferentially oxidizes biogenic amines such as 5-hydroxytryptamine (5-HT), norepinephrine and epinephrine. 1H8Q;2BXR;2BXS;2Z5X;2Z5Y M69226 187355 MAOA X Xp11.3 MAOA HGNC:6833 true hsa:4128 HS01798-MONOMER NP_000231.1:NM_000240.3;NP_001257387.1:NM_001270458.1 Heart, liver, duodenum, blood vessels and kidney. FAD Monomer, homo- or heterodimer (containing two subunits of similar size). Each subunit contains a covalently bound flavin. Enzymatically active as monomer 2020-06-12T23:06:47Z 2020-07-28T02:24:56Z 0 0 0 166 CDBP00165 NADH dehydrogenase [ubiquinone] 1 subunit C2 O95298 NDUC2_HUMAN true false Enzyme Homo_sapiens NDUFC2 119 14187.3 9.27 Involved in NADH dehydrogenase (ubiquinone) activity Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone ["None"] ["56-75"] AF087659 NDUFC2 Chromosome:1 11q14.1 NDUFC2 HGNC:7706 true 2020-06-12T23:06:47Z 2020-06-12T23:06:47Z 0 0 0 167 CDBP00166 Dimethylaniline monooxygenase [N-oxide-forming] 3 P31513 FMO3_HUMAN true false Enzyme Homo_sapiens FMO3 532 60032.975 7.783 Involved in flavin-containing monooxygenase activity Involved in the oxidative metabolism of a variety of xenobiotics such as drugs and pesticides. It N-oxygenates primary aliphatic alkylamines as well as secondary and tertiary amines. Plays an important role in the metabolism of trimethylamine (TMA), via the production of TMA N-oxide (TMAO). Is also able to perform S-oxidation when acting on sulfide compounds. AK313197 189053761 FMO3 1 1q24.3 FMO3 HGNC:3771 true hsa:2328 HS00223-MONOMER NP_001002294.1:NM_001002294.2;NP_008825.4:NM_006894.5 Liver. FAD 2020-06-12T23:06:47Z 2020-07-28T02:24:57Z 0 0 0 168 CDBP00167 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3 O43676 NDUB3_HUMAN true false Enzyme Homo_sapiens NDUFB3 98 11401.9 9.73 Involved in NADH dehydrogenase (ubiquinone) activity Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone ["None"] ["66-88"] AF035839 3098338 NDUFB3 Chromosome:2 2q31.3 NDUFB3 HGNC:7698 true 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 169 CDBP00168 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 7 P17568 NDUB7_HUMAN true false Enzyme Homo_sapiens NDUFB7 137 16401.8 9.21 Involved in NADH dehydrogenase activity Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone ["None"] ["None"] AF112200 6563188 NDUFB7 Chromosome:1 19p13.12 NDUFB7 HGNC:7702 true 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 170 CDBP00169 Acyl carrier protein, mitochondrial O14561 ACPM_HUMAN true true Enzyme Homo_sapiens NDUFAB1 156 17417.1 4.53 Involved in acyl carrier activity Carrier of the growing fatty acid chain in fatty acid biosynthesis in mitochondria. Accessory and non-catalytic subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain ["None"] ["None"] NM_005003.2 4826852 NDUFAB1 Chromosome:1 16p12.2 NDUFAB1 HGNC:7694 true 2020-06-12T23:06:48Z 2020-07-28T02:24:57Z 0 0 0 171 CDBP00170 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 Q16718 NDUA5_HUMAN true false Enzyme Homo_sapiens NDUFA5 116 13458.6 5.81 Involved in oxidoreductase activity, acting on NADH or NADPH Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone ["None"] ["None"] AC073323 37674403 NDUFA5 Chromosome:7 7q32 NDUFA5 HGNC:7688 true 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 172 CDBP00171 Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial Q16134 ETFD_HUMAN true false Enzyme Homo_sapiens ETFDH 617 68494.96 7.554 Involved in electron-transferring-flavoprotein dehydrogenase activity Accepts electrons from ETF and reduces ubiquinone. NM_004453.2 119703746 ETFDH 4 4q32-q35 ETFDH HGNC:3483 true hsa:2110 HS10326-MONOMER NP_004444.2:NM_004453.2 4Fe-4S cluster;FAD Monomer 2020-06-12T23:06:48Z 2020-07-28T02:24:57Z 0 1 0 173 CDBP00172 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial Q16795 NDUA9_HUMAN true false Enzyme Homo_sapiens NDUFA9 377 42509.2 10.37 Involved in catalytic activity Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone ["None"] ["None"] AF050641 NDUFA9 Chromosome:1 12p13.3 NDUFA9 HGNC:7693 true 2020-06-12T23:06:48Z 2020-07-28T02:24:57Z 0 0 0 174 CDBP00173 NADH-ubiquinone oxidoreductase chain 4 P03905 NU4M_HUMAN true false Enzyme Homo_sapiens MT-ND4 459 51580.26 9.352 Involved in NADH dehydrogenase (ubiquinone) activity Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). J01415 MT-ND4 MT-ND4 HGNC:7459 true hsa:4538 YP_003024035.1:NC_012920.1 2020-06-12T23:06:48Z 2020-07-28T02:24:57Z 0 0 0 175 CDBP00174 Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial O14521 DHSD_HUMAN true false Enzyme Homo_sapiens SDHD 159 17042.82 8.625 Involved in iron ion binding Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q) (By similarity). AB006202 SDHD 11 11q23 SDHD HGNC:10683 true hsa:6392 ENSG00000150781-MONOMER NP_002993.1:NM_003002.2 Component of complex II composed of four subunits: the flavoprotein (FP) SDHA, iron-sulfur protein (IP) SDHB, and a cytochrome b560 composed of SDHC and SDHD 2020-06-12T23:06:48Z 2020-07-28T02:24:57Z 0 1 0 176 CDBP00175 NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial O75251 NDUS7_HUMAN true false Enzyme Homo_sapiens NDUFS7 213 23563.3 9.995 Involved in NADH dehydrogenase (ubiquinone) activity Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). NM_024407.4 187281616 NDUFS7 19 19p13.3 NDUFS7 HGNC:7714 true hsa:374291 NP_077718.3:NM_024407.4 4Fe-4S cluster Complex I is composed of 45 different subunits This is a component of the iron-sulfur (IP) fragment of the enzyme 2020-06-12T23:06:48Z 2020-07-28T02:24:57Z 0 1 0 177 CDBP00176 Xanthine dehydrogenase/oxidase P47989 XDH_HUMAN true false Enzyme Homo_sapiens XDH 1333 146422.99 7.663 Involved in oxidoreductase activity Key enzyme in purine degradation. Catalyzes the oxidation of hypoxanthine to xanthine. Catalyzes the oxidation of xanthine to uric acid. Contributes to the generation of reactive oxygen species. Has also low oxidase activity towards aldehydes (in vitro). 2CKJ;2E1Q D11456 XDH 2 2p23.1 XDH HGNC:12805 true hsa:7498 HS08270-MONOMER NP_000370.2:NM_000379.3 Detected in milk (at protein level). 2Fe-2S clusters;FAD;molybdenum ion (molybdopterin) Homodimer. Interacts with BTN1A1 2020-06-12T23:06:48Z 2020-07-28T02:24:57Z 0 1 0 178 CDBP00177 NADH-ubiquinone oxidoreductase chain 3 P03897 NU3M_HUMAN true false Enzyme Homo_sapiens MT-ND3 115 13185.87 4.41 Involved in NADH dehydrogenase (ubiquinone) activity Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). J01415 MT-ND3 MT-ND3 HGNC:7458 true hsa:4537 YP_003024033.1:NC_012920.1 2020-06-12T23:06:48Z 2020-07-28T02:24:57Z 0 0 0 179 CDBP00178 NADPH--cytochrome P450 reductase P16435 NCPR_HUMAN true false Enzyme Homo_sapiens POR 677 77047.575 5.578 Involved in oxidoreductase activity This enzyme is required for electron transfer from NADP to cytochrome P450 in microsomes. It can also provide electron transfer to heme oxygenase and cytochrome B5. 1B1C;3FJO;3QE2;3QFC;3QFR;3QFS;3QFT AB051763 11414998 POR 7 7q11.2 POR HGNC:9208 true hsa:5447 HS05140-MONOMER NP_000932.3:NM_000941.2 FAD;FMN 2020-06-12T23:06:48Z 2020-07-28T02:24:57Z 0 1 0 180 CDBP00179 Dihydroorotate dehydrogenase (quinone), mitochondrial Q02127 PYRD_HUMAN true false Enzyme Homo_sapiens DHODH 395 42866.93 9.667 Involved in catalytic activity Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor. 1D3G;1D3H;2B0M;2BXV;2FPT;2FPV;2FPY;2FQI;2PRH;2PRL;2PRM;2WV8;3F1Q;3FJ6;3FJL;3G0U;3G0X;3KVJ;3KVK;3KVL;3KVM;3U2O;3ZWS;3ZWT AK292293 158258018 DHODH 16 16q22 DHODH HGNC:2867 true hsa:1723 NP_001352.2:NM_001361.4 FMN Monomer 2020-06-12T23:06:48Z 2020-07-28T02:24:58Z 0 0 0 181 CDBP00180 Dimethylaniline monooxygenase [N-oxide-forming] 1 Q01740 FMO1_HUMAN true false Enzyme Homo_sapiens FMO1 532 60310.285 7.201 Involved in flavin-containing monooxygenase activity This protein is involved in the oxidative metabolism of a variety of xenobiotics such as drugs and pesticides. Form I catalyzes the N-oxygenation of secondary and tertiary amines. M64082 182671 FMO1 1 1q24.3 FMO1 HGNC:3769 true hsa:2326 NP_002012.1:NM_002021.1 Expressed mainly in fetal liver, adult kidney and, to a lesser extent, the intestine. FAD 2020-06-12T23:06:48Z 2020-07-28T02:24:58Z 0 0 0 182 CDBP00181 NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial P49821 NDUV1_HUMAN true false Enzyme Homo_sapiens NDUFV1 464 49867.66 8.204 Involved in NADH dehydrogenase (ubiquinone) activity Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). AF053070 3095113 NDUFV1 11 11q13 NDUFV1 HGNC:7716 true hsa:4723 NP_001159574.1:NM_001166102.1;NP_009034.2:NM_007103.3 FMN;4Fe-4S cluster Complex I is composed of 45 different subunits. This is a component of the flavoprotein-sulfur (FP) fragment of the enzyme 2020-06-12T23:06:48Z 2020-07-28T02:24:58Z 0 1 0 183 CDBP00182 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 Q9Y6M9 NDUB9_HUMAN true false Enzyme Homo_sapiens NDUFB9 179 21830.7 8.56 Involved in NADH dehydrogenase (ubiquinone) activity Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed to be not involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone ["None"] ["None"] AF044956 NDUFB9 Chromosome:8 8q13.3 NDUFB9 HGNC:7704 true 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 184 CDBP00183 Methylenetetrahydrofolate reductase P42898 MTHR_HUMAN true false Enzyme Homo_sapiens MTHFR 656 74595.895 5.334 Involved in methylenetetrahydrofolate reductase (NADPH) activity Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. U09806 6139053 MTHFR 1 1p36.3 MTHFR HGNC:7436 true hsa:4524 NP_005948.3:NM_005957.4 FAD Homodimer 2020-06-12T23:06:48Z 2020-07-28T02:24:58Z 0 0 0 185 CDBP00184 NADH-ubiquinone oxidoreductase chain 6 P03923 NU6M_HUMAN true false Enzyme Homo_sapiens MT-ND6 174 18622.045 4.206 Involved in NADH dehydrogenase (ubiquinone) activity Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). V00662 13015 MT-ND6 MT-ND6 HGNC:7462 true hsa:4541 YP_003024037.1:NC_012920.1 2020-06-12T23:06:48Z 2020-07-28T02:24:58Z 0 0 0 186 CDBP00185 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13 Q9P0J0 NDUAD_HUMAN true false Enzyme Homo_sapiens NDUFA13 144 16698.2 8.84 Involved in ATP binding Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Involved in the interferon/all-trans-retinoic acid (IFN/RA) induced cell death. This apoptotic activity is inhibited by interaction with viral IRF1. Prevents the transactivation of STAT3 target genes. May play a role in CARD15-mediated innate mucosal responses and serve to regulate intestinal epithelial cell responses to microbes ["None"] ["30-51"] AF286697 NDUFA13 Chromosome:1 19p13.2 NDUFA13 HGNC:17194 true 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 187 CDBP00186 NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial O75380 NDUS6_HUMAN true false Enzyme Homo_sapiens NDUFS6 124 13711.5 8.38 Involved in electron carrier activity Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone ["None"] ["None"] AF044959 NDUFS6 Chromosome:5 5p15.33 NDUFS6 HGNC:7713 true 2020-06-12T23:06:48Z 2020-07-28T02:24:58Z 0 0 0 188 CDBP00187 Peroxisomal acyl-coenzyme A oxidase 3 O15254 ACOX3_HUMAN true false Enzyme Homo_sapiens ACOX3 700 69574.075 8.233 Involved in oxidoreductase activity, acting on the CH-CH group of donors Oxidizes the CoA-esters of 2-methyl-branched fatty acids (By similarity). Y11411 2326549 ACOX3 4 4p15.3 ACOX3 HGNC:121 true hsa:8310 NP_001095137.1:NM_001101667.1;NP_003492.2:NM_003501.2 FAD 2020-06-12T23:06:48Z 2020-07-28T02:24:58Z 0 0 0 189 CDBP00188 Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial P21912 DHSB_HUMAN true false Enzyme Homo_sapiens SDHB 280 31629.365 8.76 Involved in electron carrier activity Iron-sulfur protein (IP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). AK312056 189065269 SDHB 1 1p36.1-p35 SDHB HGNC:10681 true hsa:6390 ENSG00000117118-MONOMER NP_002991.2:NM_003000.2 2Fe-2S cluster;3Fe-4S cluster;4Fe-4S cluster Component of complex II composed of four subunits: the flavoprotein (FP) SDHA, iron-sulfur protein (IP) SDHB, and a cytochrome b560 composed of SDHC and SDHD 2020-06-12T23:06:48Z 2020-07-28T02:24:58Z 0 1 0 190 CDBP00189 Ectonucleotide pyrophosphatase/phosphodiesterase family member 3 O14638 ENPP3_HUMAN true false Enzyme Homo_sapiens ENPP3 875 100123.54 6.57 Involved in catalytic activity Cleaves a variety of phosphodiester and phosphosulfate bonds including deoxynucleotides, nucleotide sugars, and NAD (By similarity). AF005632 2465540 ENPP3 6 6q22 ENPP3 HGNC:3358 true hsa:5169 NP_005012.2:NM_005021.3 Expressed in bile ducts, prostate, uterus and colon. Exclusively expressed on basophils, mast cells and their progenitors. divalent metal cations 2020-06-12T23:06:48Z 2020-07-28T02:24:58Z 1 1 0 191 CDBP00190 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6 O95139 NDUB6_HUMAN true false Enzyme Homo_sapiens NDUFB6 128 15489.1 10.18 Involved in NADH dehydrogenase (ubiquinone) activity Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone ["None"] ["68-86"] AF035840 3800740 NDUFB6 Chromosome:9 9p21.1 NDUFB6 HGNC:7701 true 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 192 CDBP00191 Glutathione reductase, mitochondrial P00390 GSHR_HUMAN true false Enzyme Homo_sapiens GSR 522 56256.565 8.495 Involved in oxidoreductase activity Maintains high levels of reduced glutathione in the cytosol. 1ALG;1BWC;1DNC;1GRA;1GRB;1GRE;1GRF;1GRG;1GRH;1GRT;1GSN;1K4Q;1XAN;2AAQ;2GH5;2GRT;3DJG;3DJJ;3DK4;3DK8;3DK9;3GRS;3GRT;3SQP;4GR1;4GRT;5GRT NM_000637.3 50301238 GSR 8 8p21.1 GSR HGNC:4623 true hsa:2936 HS02602-MONOMER NP_000628.2:NM_000637.3;NP_001182031.1:NM_001195102.1;NP_001182032.1:NM_001195103.1;NP_001182033.1:NM_001195104.1 FAD Homodimer; disulfide-linked 2020-06-12T23:06:48Z 2020-07-28T02:24:58Z 0 0 0 193 CDBP00192 Glycerol-3-phosphate dehydrogenase, mitochondrial P43304 GPDM_HUMAN true false Enzyme Homo_sapiens GPD2 727 80851.99 7.691 Involved in calcium ion binding NM_000408.4 285002233 GPD2 2 2q24.1 GPD2 HGNC:4456 true hsa:2820 HS03841-MONOMER NP_000399.3:NM_000408.4;NP_001076581.2:NM_001083112.2 FAD 2020-06-12T23:06:48Z 2020-07-28T02:24:58Z 0 1 0 194 CDBP00193 Heme oxygenase 1 P09601 HMOX1_HUMAN true false Enzyme Homo_sapiens HMOX1 288 32818.345 8.257 Involved in heme oxygenase (decyclizing) activity Heme oxygenase cleaves the heme ring at the alpha methene bridge to form biliverdin. Biliverdin is subsequently converted to bilirubin by biliverdin reductase. Under physiological conditions, the activity of heme oxygenase is highest in the spleen, where senescent erythrocytes are sequestrated and destroyed. 1N3U;1N45;1NI6;1OYK;1OYL;1OZE;1OZL;1OZR;1OZW;1S13;1S8C;1T5P;1TWN;1TWR;1XJZ;1XK0;1XK1;1XK2;1XK3;3CZY;3HOK;3K4F;3TGM X06985 35173 HMOX1 22 22q13.1 HMOX1 HGNC:5013 true hsa:3162 HS02027-MONOMER NP_002124.1:NM_002133.2 Expressed at higher levels in renal cancer tissue than in normal tissue (at protein level). 2020-06-12T23:06:48Z 2020-07-28T02:24:59Z 0 1 1 195 CDBP00194 Retinal dehydrogenase 1 P00352 AL1A1_HUMAN true false Enzyme Homo_sapiens ALDH1A1 501 54861.44 6.725 Involved in oxidoreductase activity Binds free retinal and cellular retinol-binding protein-bound retinal. Can convert/oxidize retinaldehyde to retinoic acid (By similarity). AF003341 2183299 ALDH1A1 9 9q21.13 ALDH1A1 HGNC:402 true hsa:216 HS09183-MONOMER NP_000680.2:NM_000689.4 Homotetramer 2020-06-12T23:06:48Z 2020-07-28T02:24:59Z 0 0 0 196 CDBP00195 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial O95169 NDUB8_HUMAN true false Enzyme Homo_sapiens NDUFB8 186 21765.7 6.79 Involved in NADH dehydrogenase activity Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone ["None"] ["133-153"] AF044958 NDUFB8 Chromosome:1 10q24.31 NDUFB8 HGNC:7703 true 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 197 CDBP00196 Choline dehydrogenase, mitochondrial Q8NE62 CHDH_HUMAN true false Enzyme Homo_sapiens CHDH 594 65358.005 8.28 Involved in oxidoreductase activity, acting on CH-OH group of donors BC034502 21759795 CHDH 3 3p21.1 CHDH HGNC:24288 true hsa:55349 NP_060867.2:NM_018397.4 FAD 2020-06-12T23:06:48Z 2020-07-28T02:24:59Z 0 0 0 198 CDBP00197 Glutaryl-CoA dehydrogenase, mitochondrial Q92947 GCDH_HUMAN true false Enzyme Homo_sapiens GCDH 438 48126.715 8.062 Involved in acyl-CoA dehydrogenase activity Catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. Isoform Short is inactive. 1SIQ;1SIR;2R0M;2R0N U69141 GCDH 19 19p13.2 GCDH HGNC:4189 true hsa:2639 NP_000150.1:NM_000159.2;NP_039663.1:NM_013976.2 Isoform 1 and isoform 2 are expressed in fibroblasts and liver. FAD Homotetramer 2020-06-12T23:06:48Z 2020-07-28T02:24:59Z 0 0 0 199 CDBP00198 Dimethylglycine dehydrogenase, mitochondrial Q9UI17 M2GD_HUMAN true false Enzyme Homo_sapiens DMGDH 866 96810.135 7.615 Involved in oxidoreductase activity NM_013391.2 24797151 DMGDH 5 5q14.1 DMGDH HGNC:24475 true hsa:29958 NP_037523.2:NM_013391.2 FAD covalently per monomer Monomer 2020-06-12T23:06:48Z 2020-07-28T02:24:59Z 0 0 0 200 CDBP00199 NADPH:adrenodoxin oxidoreductase, mitochondrial P22570 ADRO_HUMAN true false Enzyme Homo_sapiens FDXR 491 58303.275 7.868 Involved in catalytic activity Serves as the first electron transfer protein in all the mitochondrial P450 systems. Including cholesterol side chain cleavage in all steroidogenic tissues, steroid 11-beta hydroxylation in the adrenal cortex, 25-OH-vitamin D3-24 hydroxylation in the kidney, and sterol C-27 hydroxylation in the liver. BC002960 12804205 FDXR 17 17q24-q25 FDXR HGNC:3642 true hsa:2232 HS08587-MONOMER NP_001244941.1:NM_001258012.1;NP_001244942.1:NM_001258013.1;NP_001244943.1:NM_001258014.1;NP_001244944.1:NM_001258015.1;NP_004101.2:NM_004110.3;NP_077728.2:NM_024417.2 FAD Monomer. Interacts directly with FDX1 2020-06-12T23:06:48Z 2020-07-28T02:24:59Z 0 0 0 201 CDBP00200 Retinal dehydrogenase 2 O94788 AL1A2_HUMAN true false Enzyme Homo_sapiens ALDH1A2 518 54672.24 6.589 Involved in oxidoreductase activity Recognizes as substrates free retinal and cellular retinol-binding protein-bound retinal. Does metabolize octanal and decanal but does not metabolize citral, benzaldehyde, acetaldehyde and propanal efficiently (By similarity). AB015226 3970842 ALDH1A2 15 15q21.3 ALDH1A2 HGNC:15472 true hsa:8854 HS05232-MONOMER NP_001193826.1:NM_001206897.1;NP_003879.2:NM_003888.3;NP_733797.1:NM_170696.2;NP_733798.1:NM_170697.2 Homotetramer 2020-06-12T23:06:48Z 2020-07-28T02:24:59Z 1 0 0 202 CDBP00201 D-amino-acid oxidase P14920 OXDA_HUMAN true false Enzyme Homo_sapiens DAO 347 39473.75 6.844 Involved in D-amino-acid oxidase activity Regulates the level of the neuromodulator D-serine in the brain. Has high activity towards D-DOPA and contributes to dopamine synthesis. Could act as a detoxifying agent which removes D-amino acids accumulated during aging. Acts on a variety of D-amino acids with a preference for those having small hydrophobic side chains followed by those bearing polar, aromatic, and basic groups. Does not act on acidic amino acids. 2DU8;2E48;2E49;2E4A;2E82;2GNZ;3CUK;3G3E X13227 30446 DAO 12 12q24 DAO HGNC:2671 true hsa:1610 HS03351-MONOMER NP_001908.3:NM_001917.4 FAD Homodimer 2020-06-12T23:06:48Z 2020-07-28T02:24:59Z 0 0 0 203 CDBP00202 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase Q11203 SIAT6_HUMAN true false Enzyme Homo_sapiens ST3GAL3 375 38741.57 8.895 Involved in sialyltransferase activity Catalyzes the formation of the NeuAc-alpha-2,3-Gal-beta-1,4-GlcNAc-, NeuAc-alpha-2,3-Gal-beta-1,3-GlcNAc- or NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc- sequences found in terminal carbohydrate groups of glycoproteins and glycolipids. The highest activity is toward Gal-beta-1,3-GlcNAc and the lowest toward Gal-beta-1,3-GalNAc (By similarity). NM_006279.2 5454060 ST3GAL3 1 1p34.1 ST3GAL3 HGNC:10866 true hsa:6487 NP_001257388.1:NM_001270459.1;NP_001257389.1:NM_001270460.1;NP_001257390.1:NM_001270461.1;NP_001257391.1:NM_001270462.1;NP_001257392.1:NM_001270463.1;NP_001257393.1:NM_001270464.1;NP_001257394.1:NM_001270465.1;NP_001257395.1:NM_001270466.1;NP_006270.1:NM_006279.3;NP_777623.2:NM_174963.3;NP_777624.1:NM_174964.2;NP_777625.1:NM_174965.2;NP_777626.1:NM_174966.2;NP_777627.1:NM_174967.2;NP_777628.2:NM_174968.3;NP_777629.1:NM_174969.2;NP_777630.1:NM_174970.2;NP_777631.2:NM_174971.3 Highly expressed in adult skeletal muscle and in all fetal tissues examined and to a much lesser extent in placenta, lung and liver. 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 204 CDBP00203 L-dopachrome tautomerase P40126 TYRP2_HUMAN true false Enzyme Homo_sapiens DCT 519 62928.215 7.435 Involved in oxidoreductase activity Involved in regulating eumelanin and phaeomelanin levels. AL139318 12313911 DCT 13 13q32 DCT HGNC:2709 true hsa:1638 NP_001123361.1:NM_001129889.1;NP_001913.2:NM_001922.3 zinc ions Tyrosinase, TYRP1 and DCT/TYRP2 may form a multienzyme complex 2020-06-12T23:06:48Z 2020-07-28T02:24:59Z 0 0 0 205 CDBP00204 Glucokinase P35557 HXK4_HUMAN true false Enzyme Homo_sapiens GCK 465 52191.07 5.203 Involved in ATP binding Catalyzes the initial step in utilization of glucose by the beta-cell and liver at physiological glucose concentration. Glucokinase has a high Km for glucose, and so it is effective only when glucose is abundant. The role of GCK is to provide G6P for the synthesis of glycogen. Pancreatic glucokinase plays an important role in modulating insulin secretion. Hepatic glucokinase helps to facilitate the uptake and conversion of glucose by acting as an insulin-sensitive determinant of hepatic glucose usage. 1GLK;1V4S;1V4T;3A0I;3F9M;3FGU;3FR0;3GOI;3H1V;3ID8;3IDH;3IMX;3QIC;3S41;3VEV;3VEY;3VF6;4DCH;4DHY M88011 179427 GCK 7 7p15.3-p15.1 GCK HGNC:4195 true hsa:2645 HS02935-MONOMER NP_000153.1:NM_000162.3;NP_277042.1:NM_033507.1;NP_277043.1:NM_033508.1 Isoform 1 is expressed in pancreas. Isoform 2 and isoform 3 is expressed in liver. Monomer 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 206 CDBP00205 Glucosamine-6-phosphate isomerase 1 P46926 GNPI1_HUMAN true false Enzyme Homo_sapiens GNPDA1 289 32668.29 6.912 Involved in carbohydrate metabolic process Seems to trigger calcium oscillations in mammalian eggs. These oscillations serve as the essential trigger for egg activation and early development of the embryo (By similarity). 1NE7 AF048826 GNPDA1 5 5q21 GNPDA1 HGNC:4417 true hsa:10007 NP_005462.1:NM_005471.4 Homohexamer 2020-06-12T23:06:48Z 2020-07-28T02:25:00Z 0 0 0 207 CDBP00206 Hexokinase-3 P52790 HXK3_HUMAN true false Enzyme Homo_sapiens HK3 923 99024.56 5.398 Involved in ATP binding 3HM8 BC028129 20380888 HK3 5 5q35.2 HK3 HGNC:4925 true hsa:3101 NP_002106.2:NM_002115.2 Monomer 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 208 CDBP00207 Hexokinase-2 P52789 HXK2_HUMAN true false Enzyme Homo_sapiens HK2 917 102379.06 6.052 Involved in ATP binding 2NZT AF148513 4809269 HK2 2 2p13 HK2 HGNC:4923 true hsa:3099 NP_000180.2:NM_000189.4 Predominant hexokinase isozyme expressed in insulin-responsive tissues such as skeletal muscle. Monomer 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 209 CDBP00208 Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2 O94808 GFPT2_HUMAN true false Enzyme Homo_sapiens GFPT2 682 76929.885 7.377 Involved in metabolic process Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins. AB016789 GFPT2 5 5q34-q35 GFPT2 HGNC:4242 true hsa:9945 NP_005101.1:NM_005110.2 Highest levels of expression in heart, placenta, and spinal cord. 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 210 CDBP00209 Hexokinase-1 P19367 HXK1_HUMAN true false Enzyme Homo_sapiens HK1 917 102485.1 6.8 Involved in ATP binding 1CZA;1DGK;1HKB;1HKC;1QHA M75126 184021 HK1 10 10q22 HK1 HGNC:4922 true hsa:3098 NP_000179.2:NM_000188.2;NP_277031.1:NM_033496.2;NP_277032.1:NM_033497.2;NP_277033.1:NM_033498.2;NP_277035.2:NM_033500.2 Isoform 2 is erythrocyte specific. Isoform 3 and isoform 4 are testis-specific. Monomer 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 211 CDBP00210 Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 Q06210 GFPT1_HUMAN true false Enzyme Homo_sapiens GFPT1 699 78805.81 7.107 Involved in metabolic process Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins. 2V4M;2ZJ3;2ZJ4 AC114772 205277386 GFPT1 2 2p13 GFPT1 HGNC:4241 true hsa:2673 HS09974-MONOMER NP_001231639.1:NM_001244710.1;NP_002047.2:NM_002056.3 Isoform 1 is predominantly expressed in skeletal muscle. Not expressed in brain. Seems to be selectively expressed in striated muscle. Homotetramer 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 212 CDBP00211 Spermine synthase P52788 SPSY_HUMAN true false Enzyme Homo_sapiens SMS 366 35278.2 5.018 Involved in spermine synthase activity Catalyzes the production of spermine from spermidine and decarboxylated S-adenosylmethionine (dcSAM). 3C6K;3C6M AD001528 2198557 SMS X Xp22.1 SMS HGNC:11123 true hsa:6611 HS02362-MONOMER NP_001245352.1:NM_001258423.1;NP_004586.2:NM_004595.4 Homodimer. Dimerization is mediated through the N-terminal domain and seems to be required for activity as deletion of the N-terminal domain causes complete loss of activity 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 213 CDBP00212 Spermidine synthase P19623 SPEE_HUMAN true false Enzyme Homo_sapiens SRM 302 33824.455 5.49 Involved in catalytic activity Catalyzes the production of spermidine from putrescine and decarboxylated S-adenosylmethionine (dcSAM). Has a strong preference for putrescine as substrate, and has very low activity towards 1,3-diaminopropane. Has extremely low activity towards spermidine. 2O05;2O06;2O07;2O0L;3RW9 AL109811 56204109 SRM 1 1p36-p22 SRM HGNC:11296 true hsa:6723 HS04027-MONOMER NP_003123.2:NM_003132.2 Homodimer or homotetramer 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 214 CDBP00213 Deoxyhypusine synthase P49366 DHYS_HUMAN true false Enzyme Homo_sapiens DHPS 369 40970.28 5.36 Involved in peptidyl-lysine modification to hypusine Catalyzes the NAD-dependent oxidative cleavage of spermidine and the subsequent transfer of the butylamine moiety of spermidine to the epsilon-amino group of a specific lysine residue of the eIF-5A precursor protein to form the intermediate deoxyhypusine residue. 1DHS;1RLZ;1ROZ;1RQD L39068 DHPS 19 19p13.2 DHPS HGNC:2869 true hsa:1725 HS01810-MONOMER NP_001921.1:NM_001930.3;NP_037538.1:NM_013406.2 NAD Homotetramer formed by a dimer of dimers 2020-06-12T23:06:48Z 2020-07-28T02:25:00Z 0 0 0 215 CDBP00214 Diacylglycerol kinase theta P52824 DGKQ_HUMAN true false Enzyme Homo_sapiens DGKQ 942 101154.0 7.5 Involved in diacylglycerol kinase activity Phosphorylates diacylglycerol (DAG) to generate phosphatidic acid (PA). May regulate the activity of protein kinase C by controlling the balance between these two signaling lipids. Activated in the nucleus in response to alpha-thrombin and nerve growth factor. May be involved in cAMP- induced activation of NR5A1 and subsequent steroidogenic gene transcription by delivering PA as ligand for NR5A1. Acts synergistically with NR5A1 on CYP17 transcriptional activity ["None"] ["None"] NM_001347.2 40806175 DGKQ Chromosome:4 4p16.3 DGKQ HGNC:2856 true 2020-06-12T23:06:48Z 2020-07-28T02:25:00Z 1 0 0 216 CDBP00215 Pancreatic triacylglycerol lipase P16233 LIPP_HUMAN true false Enzyme Homo_sapiens PNLIP 465 51156.48 6.729 Involved in catalytic activity 1GPL;1LPA;1LPB;1N8S J05125 PNLIP 10 10q26.1 PNLIP HGNC:9155 true hsa:5406 HS10947-MONOMER NP_000927.1:NM_000936.2 2020-06-12T23:06:48Z 2020-07-28T02:25:00Z 0 1 0 217 CDBP00216 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 Q9NQ66 PLCB1_HUMAN true false Enzyme Homo_sapiens PLCB1 1216 138565.805 6.227 Involved in calcium ion binding The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. NM_015192.2 12083581 PLCB1 20 20p12 PLCB1 HGNC:15917 true hsa:23236 NP_056007.1:NM_015192.2;NP_877398.1:NM_182734.1 Calcium Interacts with DGKQ 2020-06-12T23:06:48Z 2020-07-28T02:25:01Z 1 1 1 218 CDBP00217 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 Q15147 PLCB4_HUMAN true false Enzyme Homo_sapiens PLCB4 1175 136105.065 6.808 Involved in calcium ion binding The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. This form has a role in retina signal transduction. AL023805 57284038 PLCB4 20 20p12 PLCB4 HGNC:9059 true hsa:5332 NP_000924.3:NM_000933.3;NP_001166117.1:NM_001172646.1;NP_877949.2:NM_182797.2 Preferentially expressed in the retina. Calcium 2020-06-12T23:06:48Z 2020-07-28T02:25:01Z 0 1 0 219 CDBP00218 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 Q00722 PLCB2_HUMAN true false Enzyme Homo_sapiens PLCB2 1185 134023.21 6.293 Involved in calcium ion binding The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. 2FJU;2ZKM NM_004573.2 95147333 PLCB2 15 15q15 PLCB2 HGNC:9055 true hsa:5330 HS06408-MONOMER NP_004564.2:NM_004573.2 calcium ion Interacts with RAC1 2020-06-12T23:06:48Z 2020-07-28T02:25:01Z 0 1 0 220 CDBP00219 Diacylglycerol kinase gamma P49619 DGKG_HUMAN true false Enzyme Homo_sapiens DGKG 791 89095.3 6.8 Involved in diacylglycerol kinase activity Reverses the normal flow of glycerolipid biosynthesis by phosphorylating diacylglycerol back to phosphatidic acid ["None"] ["None"] NM_001346.2 124256476 DGKG Chromosome:3 3q27.2-q27.3 DGKG HGNC:2853 true 2020-06-12T23:06:48Z 2020-07-28T02:25:01Z 1 1 0 221 CDBP00220 Hepatic triacylglycerol lipase P11150 LIPC_HUMAN true false Enzyme Homo_sapiens LIPC 499 55914.1 9.036 Involved in catalytic activity Hepatic lipase has the capacity to catalyze hydrolysis of phospholipids, mono-, di-, and triglycerides, and acyl-CoA thioesters. It is an important enzyme in HDL metabolism. Hepatic lipase binds heparin. NM_000236.2 194097335 LIPC 15 15q21-q23 LIPC HGNC:6619 true hsa:3990 NP_000227.2:NM_000236.2 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 222 CDBP00221 Lysosomal acid lipase/cholesteryl ester hydrolase P38571 LICH_HUMAN true false Enzyme Homo_sapiens LIPA 399 45418.71 6.914 Involved in lipid metabolic process Crucial for the intracellular hydrolysis of cholesteryl esters and triglycerides that have been internalized via receptor-mediated endocytosis of lipoprotein particles. Important in mediating the effect of LDL (low density lipoprotein) uptake on suppression of hydroxymethylglutaryl-CoA reductase and activation of endogenous cellular cholesteryl ester formation. AK222760 62897079 LIPA 10 10q23.2-q23.3 LIPA HGNC:6617 true hsa:3988 NP_000226.2:NM_000235.2;NP_001121077.1:NM_001127605.1 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 223 CDBP00222 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 Q01970 PLCB3_HUMAN true false Enzyme Homo_sapiens PLCB3 1234 138797.725 5.896 Involved in calcium ion binding The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. 3OHM BC142681 148745659 PLCB3 11 11q13 PLCB3 HGNC:9056 true hsa:5331 NP_000923.1:NM_000932.2 Calcium Interacts with SHANK2 . Interacts with LPAR2 2020-06-12T23:06:48Z 2020-07-28T02:25:01Z 1 1 0 224 CDBP00223 Inactive pancreatic lipase-related protein 1 P54315 LIPR1_HUMAN true false Enzyme Homo_sapiens PNLIPRP1 467 Involved in catalytic activity May function as inhibitor of dietary triglyceride digestion. Lacks detectable lipase activity towards triglycerides, diglycerides, phosphatidylcholine, galactolipids or cholesterol esters (in vitro) (By similarity). 2PPL NM_006229.2 5453920 PNLIPRP1 PNLIPRP1 HGNC:9156 true hsa:5407 NP_006220.1:NM_006229.2 Pancreas. 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 225 CDBP00224 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 P16885 PLCG2_HUMAN true false Enzyme Homo_sapiens PLCG2 1265 147868.67 6.634 Involved in phosphoinositide phospholipase C activity The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. It is a crucial enzyme in transmembrane signaling. 2K2J;2W2W;2W2X NM_002661.2 117320537 PLCG2 16 16q24.1 PLCG2 HGNC:9066 true hsa:5336 HS06773-MONOMER NP_002652.2:NM_002661.3 Calcium Interacts (via SH2 domain) with CSF1R (tyrosine phosphorylated) 2020-06-12T23:06:48Z 2020-07-28T02:25:02Z 1 0 0 226 CDBP00225 Lipid phosphate phosphohydrolase 2 O43688 LPP2_HUMAN true false Enzyme Homo_sapiens PPAP2C 288 32573.435 8.357 Involved in catalytic activity Catalyzes the conversion of phosphatidic acid (PA) to diacylglycerol (DG). In addition it hydrolyzes lysophosphatidic acid (LPA), ceramide-1-phosphate (C-1-P) and sphingosine-1-phosphate (S-1-P). The relative catalytic efficiency is PA > C-1-P > LPA > S-1-P. NM_003712.2 4505977 PPAP2C 19 19p13 PPAP2C HGNC:9230 true hsa:8612 NP_003703.1:NM_003712.2;NP_803545.1:NM_177526.1;NP_808211.1:NM_177543.1 Found mainly in brain, pancreas and placenta. Homodimer 2020-06-12T23:06:48Z 2020-07-28T02:25:02Z 0 0 0 227 CDBP00226 Patatin-like phospholipase domain-containing protein 3 Q9NST1 PLPL3_HUMAN true false Enzyme Homo_sapiens PNPLA3 481 52864.64 6.698 Involved in metabolic process Multifunctional enzyme which has both triacylglycerol lipase and acylglycerol O-acyltransferase activities. AL138578 17059636 PNPLA3 22 22q13.31 PNPLA3 HGNC:18590 true hsa:80339 NP_079501.2:NM_025225.2 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 228 CDBP00227 Diacylglycerol kinase alpha P23743 DGKA_HUMAN true false Enzyme Homo_sapiens DGKA 735 82629.5 6.71 Involved in diacylglycerol kinase activity Upon cell stimulation converts the second messenger diacylglycerol into phosphatidate, initiating the resynthesis of phosphatidylinositols and attenuating protein kinase C activity ["None"] ["None"] 1TUZ X62535 30823 DGKA Chromosome:1 12q13.3 DGKA HGNC:2849 true 2020-06-12T23:06:48Z 2020-07-28T02:25:02Z 1 1 0 229 CDBP00228 Diacylglycerol kinase delta Q16760 DGKD_HUMAN true false Enzyme Homo_sapiens DGKD 1214 134524.2 7.58 Involved in diacylglycerol kinase activity Isoform 2 may be involved in cell growth and tumorigenesis. Involved in clathrin-dependent endocytosis ["None"] ["None"] 1R79 AB078966 22773821 DGKD Chromosome:2 2q37.1 DGKD HGNC:2851 true 2020-06-12T23:06:48Z 2020-07-28T02:25:02Z 1 0 0 230 CDBP00229 Diacylglycerol kinase epsilon P52429 DGKE_HUMAN true false Enzyme Homo_sapiens DGKE 567 63926.6 7.78 Involved in diacylglycerol kinase activity Highly selective for arachidonate-containing species of diacylglycerol (DAG). May terminate signals transmitted through arachidonoyl-DAG or may contribute to the synthesis of phospholipids with defined fatty acid composition ["None"] ["22-42", "436-456"] NM_003647.2 4503313 DGKE Chromosome:1 17q22 DGKE HGNC:2852 true 2020-06-12T23:06:48Z 2020-07-28T02:25:02Z 1 0 0 231 CDBP00230 Gastric triacylglycerol lipase P07098 LIPG_HUMAN true false Enzyme Homo_sapiens LIPF 398 45237.375 7.33 Involved in lipid metabolic process 1HLG X05997 758063 LIPF 10 10q23.31 LIPF HGNC:6622 true hsa:8513 NP_004181.1:NM_004190.3 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 232 CDBP00231 Lipid phosphate phosphohydrolase 1 O14494 LPP1_HUMAN true false Enzyme Homo_sapiens PPAP2A 284 32155.715 7.965 Involved in catalytic activity Broad-specificity phosphohydrolase that dephosphorylates exogenous bioactive glycerolipids and sphingolipids. Catalyzes the conversion of phosphatidic acid (PA) to diacylglycerol (DG). Pivotal regulator of lysophosphatidic acid (LPA) signaling in the cardiovascular system. Major enzyme responsible of dephosphorylating LPA in platelets, which terminates signaling actions of LPA. May control circulating, and possibly also regulate localized, LPA levels resulting from platelet activation. It has little activity towards ceramide-1-phosphate (C-1-P) and sphingosine-1-phosphate (S-1-P). The relative catalytic efficiency is LPA > PA > S-1-P > C-1-P. It's down-regulation may contribute to the development of colon adenocarcinoma. AB000888 2467298 PPAP2A 5 5q11 PPAP2A HGNC:9228 true hsa:8611 NP_003702.2:NM_003711.2;NP_795714.1:NM_176895.1 Ubiquitously expressed with highest expression found in prostate. Isoform 1 is predominant in kidney, lung, placenta and liver. Isoform 2 is predominant in heart and pancreas. Found to be down-regulated in colon adenocarcinomas. Homodimer 2020-06-12T23:06:48Z 2020-07-28T02:25:02Z 1 0 0 233 CDBP00232 Diacylglycerol kinase beta Q9Y6T7 DGKB_HUMAN true false Enzyme Homo_sapiens DGKB 804 90594.7 7.9 Involved in diacylglycerol kinase activity Exhibits high phosphorylation activity for long-chain diacylglycerols ["None"] ["None"] NM_004080.2 22027632 DGKB Chromosome:7 7p21.2 DGKB HGNC:2850 true 2020-06-12T23:06:48Z 2020-07-28T02:25:02Z 1 1 0 234 CDBP00233 Endothelial lipase Q9Y5X9 LIPE_HUMAN true false Enzyme Homo_sapiens LIPG 500 56794.275 7.931 Involved in catalytic activity Has phospholipase and triglyceride lipase activities. Hydrolyzes high density lipoproteins (HDL) more efficiently than other lipoproteins. Binds heparin. AF118767 4836419 LIPG 18 18q21.1 LIPG HGNC:6623 true hsa:9388 NP_006024.1:NM_006033.2 High level of expression in the liver, placenta, lung, thyroid, kidney, testis and in the corpus luteum of the ovary. Expressed also in coronary artery endothelial cells, umbilical vein endothelial cells and in hepatocytes and osteosarcoma cell lines. Not detected in heart, brain and muscle. Head to tail homodimer 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 235 CDBP00234 Diacylglycerol kinase iota O75912 DGKI_HUMAN true false Enzyme Homo_sapiens DGKI 1065 116996.2 7.81 Involved in diacylglycerol kinase activity ATP + 1,2-diacylglycerol = ADP + 1,2-diacyl- sn-glycerol 3-phosphate ["None"] ["None"] AF061936 3676530 DGKI Chromosome:7 7q32.3-q33 DGKI HGNC:2855 true 2020-06-12T23:06:48Z 2020-07-28T02:25:02Z 1 0 0 236 CDBP00235 Bile salt-activated lipase P19835 CEL_HUMAN true false Enzyme Homo_sapiens CEL 753 79666.385 5.342 Lipid transport and metabolism Catalyzes fat and vitamin absorption. Acts in concert with pancreatic lipase and colipase for the complete digestion of dietary triglycerides. 1F6W;1JMY 148536848 CEL 9 9q34.3 CEL HGNC:1848 true hsa:1056 NP_001798.2:NM_001807.3 Mammary gland and pancreas. 2020-06-12T23:06:48Z 2020-07-28T02:25:02Z 0 0 0 237 CDBP00236 Lipid phosphate phosphohydrolase 3 O14495 LPP3_HUMAN true false Enzyme Homo_sapiens PPAP2B 311 35115.61 9.149 Involved in catalytic activity Catalyzes the conversion of phosphatidic acid (PA) to diacylglycerol (DG). In addition it hydrolyzes lysophosphatidic acid (LPA), ceramide-1-phosphate (C-1-P) and sphingosine-1-phosphate (S-1-P). The relative catalytic efficiency is LPA = PA > C-1-P > S-1-P. May be involved in cell adhesion and in cell-cell interactions. AB000889 PPAP2B 1 1p32.2 PPAP2B HGNC:9229 true hsa:8613 NP_003704.3:NM_003713.4 Ubiquitously expressed. Highly expressed in heart and placenta. Homodimer. This complex seems not to be involved in substrate recognition, it may confer only structural or functional stability 2020-06-12T23:06:48Z 2020-07-28T02:25:03Z 1 0 1 238 CDBP00237 Diacylglycerol O-acyltransferase 1 O75907 DGAT1_HUMAN true false Enzyme Homo_sapiens DGAT1 488 55277.735 9.32 Involved in diacylglycerol O-acyltransferase activity Catalyzes the terminal and only committed step in triacylglycerol synthesis by using diacylglycerol and fatty acyl CoA as substrates. In contrast to DGAT2 it is not essential for survival. May be involved in VLDL (very low density lipoprotein) assembly. In liver, plays a role in esterifying exogenous fatty acids to glycerol. Functions as the major acyl-CoA retinol acyltransferase (ARAT) in the skin, where it acts to maintain retinoid homeostasis and prevent retinoid toxicity leading to skin and hair disorders. AB057815 29170487 DGAT1 8 8q24.3 DGAT1 HGNC:2843 true hsa:8694 NP_036211.2:NM_012079.4 Homodimer or homotetramer 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 239 CDBP00238 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 P19174 PLCG1_HUMAN true false Enzyme Homo_sapiens PLCG1 1290 148658.92 6.044 Involved in calcium ion binding Mediates the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). Plays an important role in the regulation of intracellular signaling cascades. Becomes activated in response to ligand-mediated activation of receptor-type tyrosine kinases, such as PDGFRA, PDGFRB, FGFR1, FGFR2, FGFR3 and FGFR4. Plays a role in actin reorganization and cell migration. 1HSQ;2HSP;4EY0;4FBN AL022394 3336979 PLCG1 20 20q12-q13.1 PLCG1 HGNC:9065 true hsa:5335 NP_002651.2:NM_002660.2;NP_877963.1:NM_182811.1 Calcium Interacts with AGAP2 via its SH3 domain. Interacts (via SH2 domain) with RET. Interacts with FLT1 (tyrosine-phosphorylated) . Interacts (via SH2 domain) with FGFR1, FGFR2, FGFR3 and FGFR4 (phosphorylated). Interacts with LAT (phosphorylated) upon TCR activation. Interacts (via SH3 domain) with the Pro-rich domain of TNK1. Associates with BLNK, VAV1, GRB2 and NCK1 in a B-cell antigen receptor-dependent fashion. Interacts with CBLB in activated T-cells; which inhibits phosphorylation. Interacts with SHB. Interacts (via SH3 domain) with the Arg/Gly-rich-flanked Pro-rich domains of KHDRBS1/SAM68. This interaction is selectively regulated by arginine methylation of KHDRBS1/SAM68. Interacts with INPP5D/SHIP1, THEMIS and CLNK (By similarity). Interacts with AXL, FLT4 and KIT. Interacts with RALGPS1. Interacts (via SH3 domain) with HEV ORF3 protein. Interacts (via the SH2 domains) with VIL1 (phosphorylated at C-terminus tyrosine phosphorylation sites). Interacts (via SH2 domain) with PDGFRA and PDGFRB (tyrosine phosphorylated). Interacts with PIP5K1C (By similarity). Interacts with NTRK1 and NTRK2 (phosphorylated upon ligand-binding). Interacts with SYK; activates PLCG1. Interacts with GRB2, LAT and THEMIS upon TCR activation in thymocytes (By similarity). Interacts with TESPA1; the association is increased with prolonged stimulation of the TCR and may facilitate the assembly of the LAT signalosome 2020-06-12T23:06:48Z 2020-07-28T02:25:03Z 1 0 0 240 CDBP00239 Pancreatic lipase-related protein 2 P54317 LIPR2_HUMAN true false Enzyme Homo_sapiens PNLIPRP2 469 52077.475 5.443 Involved in catalytic activity Lipase with broad substrate specificity. Can hydrolyze both phospholipids and galactolipids. Acts preferentially on monoglycerides, phospholipids and galactolipids. Contributes to milk fat hydrolysis. 2OXE;2PVS M93284 PNLIPRP2 10 10q25.3 PNLIPRP2 HGNC:9157 true hsa:5408 NP_005387.2:NM_005396.4 Pancreas. 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 241 CDBP00240 Diacylglycerol kinase zeta Q13574 DGKZ_HUMAN true false Enzyme Homo_sapiens DGKZ 1117 124127.3 9.31 Involved in diacylglycerol kinase activity Displays a strong preference for 1,2-diacylglycerols over 1,3-diacylglycerols, but lacks substrate specificity among molecular species of long chain diacylglycerols. Isoform 2 but not isoform 1 regulates RASGRP1 activity ["None"] ["None"] NM_001105540.1 157688564 DGKZ Chromosome:1 11p11.2 DGKZ HGNC:2857 true 2020-06-12T23:06:48Z 2020-07-28T02:25:03Z 1 0 0 242 CDBP00241 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 P51178 PLCD1_HUMAN true false Enzyme Homo_sapiens PLCD1 756 88134.23 7.224 Involved in calcium ion binding The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. Essential for trophoblast and placental development. BC050382 37572274 PLCD1 3 3p22-p21.3 PLCD1 HGNC:9060 true hsa:5333 HS07195-MONOMER NP_001124436.1:NM_001130964.1;NP_006216.2:NM_006225.3 calcium ions . Two of the calcium ions are bound to the C2 domain 2020-06-12T23:06:48Z 2020-07-28T02:25:03Z 0 1 0 243 CDBP00242 4-aminobutyrate aminotransferase, mitochondrial P80404 GABT_HUMAN true false Enzyme Homo_sapiens ABAT 500 56438.405 7.961 Involved in 4-aminobutyrate transaminase activity Catalyzes the conversion of gamma-aminobutyrate and L-beta-aminoisobutyrate to succinate semialdehyde and methylmalonate semialdehyde, respectively. Can also convert delta-aminovalerate and beta-alanine. AK290501 158254434 ABAT 16 16p13.2 ABAT HGNC:23 true hsa:18 HS02477-MONOMER NP_000654.2:NM_000663.4;NP_001120920.1:NM_001127448.1;NP_065737.2:NM_020686.5 Liver > pancreas > brain > kidney > heart > placenta. Pyridoxal phosphate Homodimer; disulfide-linked 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 244 CDBP00243 Succinate-semialdehyde dehydrogenase, mitochondrial P51649 SSDH_HUMAN true false Enzyme Homo_sapiens ALDH5A1 535 57214.23 8.287 Involved in oxidoreductase activity Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA). 2W8N;2W8O;2W8P;2W8Q;2W8R Y11192 3766467 ALDH5A1 6 6p22 ALDH5A1 HGNC:408 true hsa:7915 HS03550-MONOMER NP_001071.1:NM_001080.3;NP_733936.1:NM_170740.1 Brain, pancreas, heart, liver, skeletal muscle and kidney. Lower in placenta. Homotetramer 2020-06-12T23:06:48Z 2020-07-28T02:25:03Z 0 0 0 245 CDBP00244 Uroporphyrinogen decarboxylase P06132 DCUP_HUMAN true false Enzyme Homo_sapiens UROD 367 40786.58 6.139 Involved in uroporphyrinogen decarboxylase activity Catalyzes the decarboxylation of four acetate groups of uroporphyrinogen-III to yield coproporphyrinogen-III. 1JPH;1JPI;1JPK;1R3Q;1R3R;1R3S;1R3T;1R3V;1R3W;1R3Y;1URO;2Q6Z;2Q71;3GVQ;3GVR;3GVV;3GVW;3GW0;3GW3 M14016 340181 UROD 1 1p34 UROD HGNC:12591 true hsa:7389 NP_000365.3:NM_000374.4 Homodimer 2020-06-12T23:06:48Z 2020-07-28T02:25:03Z 0 0 0 246 CDBP00245 Coproporphyrinogen-III oxidase, mitochondrial P36551 HEM6_HUMAN true false Enzyme Homo_sapiens CPOX 454 50151.605 8.253 Involved in coproporphyrinogen oxidase activity Key enzyme in heme biosynthesis. Catalyzes the oxidative decarboxylation of propionic acid side chains of rings A and B of coproporphyrinogen III. 2AEX AK290140 CPOX 3 3q12 CPOX HGNC:2321 true hsa:1371 NP_000088.3:NM_000097.5 Homodimer 2020-06-12T23:06:48Z 2020-07-28T02:25:03Z 0 0 0 247 CDBP00246 Peptidyl-glycine alpha-amidating monooxygenase P19021 AMD_HUMAN true false Enzyme Homo_sapiens PAM 973 108402.425 6.424 Involved in monooxygenase activity Bifunctional enzyme that catalyzes 2 sequential steps in C-terminal alpha-amidation of peptides. The monooxygenase part produces an unstable peptidyl(2-hydroxyglycine) intermediate that is dismutated to glyoxylate and the corresponding desglycine peptide amide by the lyase part. C-terminal amidation of peptides such as neuropeptides is essential for full biological activity. AB095007 24430388 PAM 5 5q14-q21 PAM HGNC:8596 true hsa:5066 NP_000910.2:NM_000919.3;NP_001170777.1:NM_001177306.1;NP_620121.1:NM_138766.2;NP_620176.1:NM_138821.2;NP_620177.1:NM_138822.2 Zinc; for the lyase reaction;copper ions ; For the monoxygenase reaction Monomer. Interacts with RASSF9 2020-06-12T23:06:48Z 2020-07-28T02:25:04Z 0 1 0 248 CDBP00247 Dopamine beta-hydroxylase P09172 DOPO_HUMAN true false Enzyme Homo_sapiens DBH 617 69064.45 6.413 Involved in monooxygenase activity Conversion of dopamine to noradrenaline. AL365494 123230459 DBH 9 9q34 DBH HGNC:2689 true hsa:1621 NP_000778.3:NM_000787.3 PQQ;copper ions Homotetramer composed of two non-covalently bound disulfide-linked dimers 2020-06-12T23:06:48Z 2020-07-28T02:25:04Z 0 1 0 249 CDBP00248 Fucose-1-phosphate guanylyltransferase O14772 FPGT_HUMAN true false Enzyme Homo_sapiens FPGT 594 37630.405 8.414 Involved in fucose-1-phosphate guanylyltransferase acti Catalyzes the formation of GDP-L-fucose from GTP and L-fucose-1-phosphate. Functions as a salvage pathway to reutilize L-fucose arising from the turnover of glycoproteins and glycolipids. AF017445 2582185 FPGT 1 1p31.1 FPGT HGNC:3825 true hsa:8790 NP_001186257.1:NM_001199328.1;NP_003829.2:NM_003838.3 Expressed in many tissues. 2020-06-12T23:06:48Z 2020-07-28T02:25:04Z 0 0 0 250 CDBP00249 L-fucose kinase Q8N0W3 FUK_HUMAN true false Enzyme Homo_sapiens FUK 1084 117621.795 6.258 Involved in ATP binding Takes part in the salvage pathway for reutilization of fucose from the degradation of oligosaccharides. NM_145059.2 63175654 FUK 16 16q22.1 FUK HGNC:29500 true hsa:197258 NP_659496.2:NM_145059.2 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 251 CDBP00250 Methylmalonyl-CoA epimerase, mitochondrial Q96PE7 MCEE_HUMAN true false Enzyme Homo_sapiens MCEE 176 18748.755 9.081 Amino acid transport and metabolism 3RMU AC007881 62822200 MCEE 2 2p13.3 MCEE HGNC:16732 true hsa:84693 NP_115990.3:NM_032601.3 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 252 CDBP00251 Methylmalonyl-CoA mutase, mitochondrial P22033 MUTA_HUMAN true false Enzyme Homo_sapiens MUT 750 83133.755 6.93 Involved in isomerase activity Involved in the degradation of several amino acids, odd-chain fatty acids and cholesterol via propionyl-CoA to the tricarboxylic acid cycle. MCM has different functions in other species. 2XIJ;2XIQ;3BIC M65131 187452 MUT 6 6p12.3 MUT HGNC:7526 true hsa:4594 NP_000246.2:NM_000255.3 Adenosylcobalamin Homodimer 2020-06-12T23:06:48Z 2020-07-28T02:25:04Z 0 1 0 253 CDBP00252 Propionyl-CoA carboxylase beta chain, mitochondrial P05166 PCCB_HUMAN true false Enzyme Homo_sapiens PCCB 539 58215.13 7.635 Involved in ligase activity X73424 312812 PCCB 3 3q21-q22 PCCB HGNC:8654 true hsa:5096 NP_000523.2:NM_000532.4;NP_001171485.1:NM_001178014.1 Probably a dodecamer composed of six biotin-containing alpha subunits and six beta subunits 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 254 CDBP00253 Propionyl-CoA carboxylase alpha chain, mitochondrial P05165 PCCA_HUMAN true false Enzyme Homo_sapiens PCCA 728 80058.295 7.514 Involved in catalytic activity 2CQY;2JKU AF385926 18252315 PCCA 13 13q32 PCCA HGNC:8653 true hsa:5095 NP_000273.2:NM_000282.3;NP_001121164.1:NM_001127692.2;NP_001171475.1:NM_001178004.1 Biotin Probably a dodecamer composed of six biotin-containing alpha subunits and six beta subunits 2020-06-12T23:06:48Z 2020-07-28T02:25:04Z 0 1 0 255 CDBP00254 Squalene synthase P37268 FDFT_HUMAN true false Enzyme Homo_sapiens FDFT1 417 48114.87 6.538 Involved in transferase activity 1EZF;3ASX;3LEE;3Q2Z;3Q30;3V66;3VJ8;3VJ9;3VJA;3VJB;3VJC L06070 FDFT1 8 8p23.1-p22 FDFT1 HGNC:3629 true hsa:2222 HS01329-MONOMER NP_004453.3:NM_004462.3 Magnesium Monomer 2020-06-12T23:06:48Z 2020-07-28T02:25:04Z 0 0 0 256 CDBP00255 2-amino-3-carboxymuconate-6-semialdehyde decarboxylase Q8TDX5 ACMSD_HUMAN true false Enzyme Homo_sapiens ACMSD 336 38035.045 6.985 Involved in catalytic activity Converts alpha-amino-beta-carboxymuconate-epsilon-semialdehyde (ACMS) to alpha-aminomuconate semialdehyde (AMS). ACMS can be converted non-enzymatically to quinolate (QA), a key precursor of NAD, and a potent endogenous excitotoxin of neuronal cells which is implicated in the pathogenesis of various neurodegenerative disorders. In the presence of ACMSD, ACMS is converted to AMS, a benign catabolite. ACMSD ultimately controls the metabolic fate of tryptophan catabolism along the kynurenine pathway. 2WM1 AB071418 19911227 ACMSD 2 2q21.3 ACMSD HGNC:19288 true hsa:130013 HS14455-MONOMER NP_612199.2:NM_138326.2 Monomer 2020-06-12T23:06:48Z 2020-07-28T02:25:04Z 0 1 0 257 CDBP00256 Delta(14)-sterol reductase O76062 ERG24_HUMAN true false Enzyme Homo_sapiens TM7SF2 418 46405.345 8.87 Involved in delta14-sterol reductase activity Involved in the conversion of lanosterol to cholesterol. NM_003273.2 117414150 TM7SF2 11 11q13 TM7SF2 HGNC:11863 true hsa:7108 NP_003264.2:NM_003273.2 Expressed in adult heart, brain, pancreas, lung, liver, skeletal muscle, kidney, ovary, prostate, and testis, but not detected in placenta, spleen, thymus, small intestine, colon (mucosal lining), or peripheral blood leukocytes. 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 258 CDBP00257 Methylsterol monooxygenase 1 Q15800 ERG25_HUMAN true false Enzyme Homo_sapiens MSMO1 293 19470.325 7.701 Involved in iron ion binding U60205 62865628 SC4MOL 4 4q32-q34 SC4MOL HGNC:10545 true hsa:6307 HS00650-MONOMER NP_001017369.1:NM_001017369.2;NP_006736.1:NM_006745.4 Iron 2020-06-12T23:06:48Z 2020-07-28T02:25:04Z 0 1 0 259 CDBP00258 Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating Q15738 NSDHL_HUMAN true false Enzyme Homo_sapiens NSDHL 373 41899.99 8.062 Involved in 3-beta-hydroxy-delta5-steroid dehydrogenase activity U47105 NSDHL X Xq28 NSDHL HGNC:13398 true hsa:50814 HS07423-MONOMER NP_001123237.1:NM_001129765.1;NP_057006.1:NM_015922.2 Brain, heart, liver, lung, kidney, skin and placenta. 2020-06-12T23:06:48Z 2020-07-28T02:25:05Z 0 0 0 260 CDBP00259 Lanosterol 14-alpha demethylase Q16850 CP51A_HUMAN true false Enzyme Homo_sapiens CYP51A1 503 57277.81 8.527 Involved in monooxygenase activity Catalyzes C14-demethylation of lanosterol; it transforms lanosterol into 4,4'-dimethyl cholesta-8,14,24-triene-3-beta-ol. 3JUS;3JUV;3LD6 NM_000786 4503243 CYP51A1 7 7q21.2 CYP51A1 HGNC:2649 true hsa:1595 HS00076-MONOMER NP_000777.1:NM_000786.3;NP_001139624.1:NM_001146152.1 Ubiquitously expressed with highest levels in testis, ovary, adrenal, prostate, liver, kidney and lung. Heme group 2020-06-12T23:06:48Z 2020-07-28T02:25:05Z 0 1 0 261 CDBP00260 Bisphosphoglycerate mutase P07738 PMGE_HUMAN true false Enzyme Homo_sapiens BPGM 259 30004.98 6.543 Involved in catalytic activity Plays a major role in regulating hemoglobin oxygen affinity by controlling the levels of its allosteric effector 2,3-bisphosphoglycerate (2,3-BPG). Also exhibits mutase (EC 5.4.2.1) and phosphatase (EC 3.1.3.13) activities. 1T8P;2A9J;2F90;2H4X;2H4Z;2H52;2HHJ;3NFY BC017050 16877598 BPGM 7 7q33 BPGM HGNC:1093 true hsa:669 HS10491-MONOMER NP_001715.1:NM_001724.4;NP_954655.1:NM_199186.2 Expressed in red blood cells. Expressed in non-erythroid cells of the placenta; present in the syncytiotrophoblast layer of the placental villi at the feto-maternal interface (at protein level). Homodimer 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 262 CDBP00261 Phosphoglycerate mutase 2 P15259 PGAM2_HUMAN true false Enzyme Homo_sapiens PGAM2 253 28765.96 8.887 Involved in catalytic activity Interconversion of 3- and 2-phosphoglycerate with 2,3-bisphosphoglycerate as the primer of the reaction. Can also catalyze the reaction of EC 5.4.2.4 (synthase) and EC 3.1.3.13 (phosphatase), but with a reduced activity. M18172 189868 PGAM2 7 7p13-p12 PGAM2 HGNC:8889 true hsa:5224 NP_000281.2:NM_000290.3 In mammalian tissues there are two types of phosphoglycerate mutase isozymes: type-M in muscles and type-B in other tissues. Homodimer 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 263 CDBP00262 Probable phosphoglycerate mutase 4 Q8N0Y7 PGAM4_HUMAN true false Enzyme Homo_sapiens PGAM4 254 28776.605 6.651 Involved in catalytic activity AF465731 20530913 PGAM4 X Xq13 PGAM4 HGNC:21731 true hsa:441531 NP_001025062.1:NM_001029891.2 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 264 CDBP00263 Phosphoglycerate mutase 1 P18669 PGAM1_HUMAN true false Enzyme Homo_sapiens PGAM1 254 28803.675 7.182 Involved in catalytic activity Interconversion of 3- and 2-phosphoglycerate with 2,3-bisphosphoglycerate as the primer of the reaction. Can also catalyze the reaction of EC 5.4.2.4 (synthase) and EC 3.1.3.13 (phosphatase), but with a reduced activity. 1LJD;1YFK;1YJX AY007118 9956014 PGAM1 10 10q25.3 PGAM1 HGNC:8888 true hsa:5223 NP_002620.1:NM_002629.2 In mammalian tissues there are two types of phosphoglycerate mutase isozymes: type-M in muscles and type-B in other tissues. Homodimer 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 265 CDBP00264 Phytanoyl-CoA dioxygenase, peroxisomal O14832 PAHX_HUMAN true false Enzyme Homo_sapiens PHYH 338 38538.065 8.477 Involved in electron carrier activity Converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. 2A1X AF023462 83281447 PHYH 10 10p13 PHYH HGNC:8940 true hsa:5264 HS03003-MONOMER NP_006205.1:NM_006214.3 Expressed in liver, kidney, and T-cells, but not in spleen, brain, heart, lung and skeletal muscle. Iron;Ascorbate Interacts specifically with the immunophilin FKBP52 and PHYHIP 2020-06-12T23:06:48Z 2020-07-28T02:25:05Z 0 1 0 266 CDBP00265 Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase Q92185 SIA8A_HUMAN true false Enzyme Homo_sapiens ST8SIA1 356 40518.655 9.292 Involved in sialyltransferase activity Involved in the production of gangliosides GD3 and GT3 from GM3; gangliosides are a subfamily of complex glycosphinglolipds that contain one or more residues of sialic acid. X77922 510988 ST8SIA1 12 12p12.1-p11.2 ST8SIA1 HGNC:10869 true hsa:6489 NP_003025.1:NM_003034.3 Strongly expressed in melanoma cell lines, adult and fetal brain and to a lesser extent in adult and fetal lung. 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 267 CDBP00266 Catechol O-methyltransferase P21964 COMT_HUMAN true false Enzyme Homo_sapiens COMT 271 30036.77 5.467 Involved in magnesium ion binding Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones. Also shortens the biological half-lives of certain neuroactive drugs, like L-DOPA, alpha-methyl DOPA and isoproterenol. 3A7E;3BWM;3BWY M65212 180920 COMT 22 22q11.21 COMT HGNC:2228 true hsa:1312 HS01791-MONOMER NP_000745.1:NM_000754.3;NP_001128633.1:NM_001135161.1;NP_001128634.1:NM_001135162.1;NP_009294.1:NM_007310.2 Brain, liver, placenta, lymphocytes and erythrocytes. magnesium ion 2020-06-12T23:06:48Z 2020-07-28T02:25:05Z 0 1 0 268 CDBP00267 Tyrosine 3-monooxygenase P07101 TY3H_HUMAN true false Enzyme Homo_sapiens TH 528 55611.26 6.109 Involved in monooxygenase activity Plays an important role in the physiology of adrenergic neurons. 2XSN M17589 339681 TH 11 11p15.5 TH HGNC:11782 true hsa:7054 NP_000351.2:NM_000360.3;NP_954986.2:NM_199292.2;NP_954987.2:NM_199293.2 Mainly expressed in the brain and adrenal glands. Fe(2+) ion 2020-06-12T23:06:48Z 2020-07-28T02:25:06Z 1 1 0 269 CDBP00268 Phenylalanine--tRNA ligase alpha subunit Q9Y285 SYFA_HUMAN true false Enzyme Homo_sapiens FARSA 508 57563.225 7.793 Involved in nucleotide binding 3L4G U07424 FARSA 19 19p13.2 FARSA HGNC:3592 true hsa:2193 NP_004452.1:NM_004461.2 Tetramer of two alpha and two beta subunits 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 270 CDBP00269 Phenylalanine--tRNA ligase, mitochondrial O95363 SYFM_HUMAN true false Enzyme Homo_sapiens FARS2 451 52356.21 7.457 Involved in nucleotide binding Catalyzes direct attachment of p-Tyr (Tyr) to tRNAPhe. Permits also, with a lower efficiency, the attachment of m-Tyr to tRNAPhe, thereby opening the way for delivery of the misacylated tRNA to the ribosome and incorporation of ROS-damaged amino acid into proteins. 3CMQ;3HFV;3TEG;3TUP AF097441 FARS2 6 6p25.1 FARS2 HGNC:21062 true hsa:10667 NP_006558.1:NM_006567.3 Monomer 2020-06-12T23:06:48Z 2020-07-28T02:25:06Z 0 1 0 271 CDBP00270 Thyroid peroxidase P07202 PERT_HUMAN true false Enzyme Homo_sapiens TPO 933 102961.63 6.76 Involved in calcium ion binding Iodination and coupling of the hormonogenic tyrosines in thyroglobulin to yield the thyroid hormones T(3) and T(4). J02969 339867 TPO 2 2p25 TPO HGNC:12015 true hsa:7173 NP_000538.3:NM_000547.5;NP_001193673.1:NM_001206744.1;NP_001193674.1:NM_001206745.1;NP_783650.1:NM_175719.3;NP_783652.1:NM_175721.3;NP_783653.1:NM_175722.3 calcium ion per heterodimer;heme B (iron-protoporphyrin IX) group covalently per heterodimer Interacts with DUOX1, DUOX2 and CYBA 2020-06-12T23:06:48Z 2020-07-28T02:25:06Z 0 1 0 272 CDBP00271 Tyrosine aminotransferase P17735 ATTY_HUMAN true false Enzyme Homo_sapiens TAT 454 50398.895 6.305 Involved in 1-aminocyclopropane-1-carboxylate synthase activity Transaminase involved in tyrosine breakdown. Converts tyrosine to p-hydroxyphenylpyruvate. Can catalyze the reverse reaction, using glutamic acid, with 2-oxoglutarate as cosubstrate (in vitro). Has much lower affinity and transaminase activity towards phenylalanine. 3DYD X52520 36713 TAT 16 16q22.1 TAT HGNC:11573 true hsa:6898 HS06761-MONOMER NP_000344.1:NM_000353.2 Pyridoxal phosphate Homodimer (Probable) 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 273 CDBP00272 Aromatic-L-amino-acid decarboxylase P20711 DDC_HUMAN true false Enzyme Homo_sapiens DDC 480 53893.755 7.197 Involved in carboxy-lyase activity Catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. 3RBF;3RBL;3RCH M76180 41393464 DDC 7 7p12.2 DDC HGNC:2719 true hsa:1644 HS05635-MONOMER NP_000781.1:NM_000790.3;NP_001076440.1:NM_001082971.1;NP_001229815.1:NM_001242886.1;NP_001229816.1:NM_001242887.1;NP_001229817.1:NM_001242888.1;NP_001229818.1:NM_001242889.1 Pyridoxal phosphate Homodimer 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 274 CDBP00273 Lactoperoxidase P22079 PERL_HUMAN true false Enzyme Homo_sapiens LPO 712 70983.6 7.697 Involved in peroxidase activity May contribute to airway host defense against infection. U39573 LPO 17 17q23.1 LPO HGNC:6678 true hsa:4025 NP_001153574.1:NM_001160102.1;NP_006142.1:NM_006151.2 Mammary gland; milk and salivary gland. Found in bronchial submucosal glands. calcium ion per heterodimer;heme B (iron-protoporphyrin IX) group covalently per heterodimer 2020-06-12T23:06:48Z 2020-07-28T02:25:06Z 0 1 0 275 CDBP00274 Phenylalanine-4-hydroxylase P00439 PH4H_HUMAN true false Enzyme Homo_sapiens PAH 452 51861.565 6.595 Involved in amino acid binding 1DMW;1J8T;1J8U;1KW0;1LRM;1MMK;1MMT;1PAH;1TDW;1TG2;2PAH;3PAH;4ANP;4PAH;5PAH;6PAH K03020 189937 PAH 12 12q22-q24.2 PAH HGNC:8582 true hsa:5053 HS10374-MONOMER NP_000268.1:NM_000277.1 Fe(2+) ion Homodimer and homotetramer 2020-06-12T23:06:48Z 2020-07-28T02:25:06Z 0 1 0 276 CDBP00275 Peroxiredoxin-6 P30041 PRDX6_HUMAN true false Enzyme Homo_sapiens PRDX6 224 25034.715 6.378 Involved in antioxidant activity Involved in redox regulation of the cell. Can reduce H(2)O(2) and short chain organic, fatty acid, and phospholipid hydroperoxides. May play a role in the regulation of phospholipid turnover as well as in protection against oxidative injury. 1PRX D14662 PRDX6 1 1q25.1 PRDX6 HGNC:16753 true hsa:9588 NP_004896.1:NM_004905.2 Homotetramer. Interacts with GSTP1; mediates PRDX6 glutathionylation and regeneration. May interact with HTR2A . Interacts with APEX1 and STH. May interact with FAM168B 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 277 CDBP00276 Myeloperoxidase P05164 PERM_HUMAN true false Enzyme Homo_sapiens MPO 745 83867.71 8.961 Involved in peroxidase activity Part of the host defense system of polymorphonuclear leukocytes. It is responsible for microbicidal activity against a wide range of organisms. In the stimulated PMN, MPO catalyzes the production of hypohalous acids, primarily hypochlorous acid in physiologic situations, and other toxic intermediates that greatly enhance PMN microbicidal activity. 1CXP;1D2V;1D5L;1D7W;1DNU;1DNW;1MHL;1MYP;3F9P;3ZS0;3ZS1;4DL1 J02694 189040 MPO 17 17q23.1 MPO HGNC:7218 true hsa:4353 HS00140-MONOMER NP_000241.1:NM_000250.1 calcium ion per monomer;heme B (iron-protoporphyrin IX) group covalently per monomer Homodimer; disulfide-linked. Each monomer consists of a light and a heavy chain 2020-06-12T23:06:48Z 2020-07-28T02:25:06Z 0 1 0 278 CDBP00277 Aspartate aminotransferase, cytoplasmic P17174 AATC_HUMAN true false Enzyme Homo_sapiens GOT1 413 46247.14 7.006 Involved in transferase activity, transferring nitrogenous groups Plays a key role in amino acid metabolism (By similarity). 3II0 M37400 GOT1 10 10q24.1-q25.1 GOT1 HGNC:4432 true hsa:2805 HS04361-MONOMER NP_002070.1:NM_002079.2 Pyridoxal phosphate Homodimer 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 279 CDBP00278 Aspartate aminotransferase, mitochondrial P00505 AATM_HUMAN true false Enzyme Homo_sapiens GOT2 430 47517.285 9.005 Involved in transferase activity, transferring nitrogenous groups Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid (KA). Plays a key role in amino acid metabolism. Important for metabolite exchange between mitochondria and cytosol. Facilitates cellular uptake of long-chain free fatty acids. AK223271 62898103 GOT2 16 16q21 GOT2 HGNC:4433 true hsa:2806 NP_002071.2:NM_002080.2 Pyridoxal phosphate Homodimer 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 280 CDBP00279 Eosinophil peroxidase P11678 PERE_HUMAN true false Enzyme Homo_sapiens EPX 715 81039.5 10.285 Involved in peroxidase activity Mediates tyrosine nitration of secondary granule proteins in mature resting eosinophils. Shows significant inhibitory activity towards Mycobacterium tuberculosis H37Rv by inducing bacterial fragmentation and lysis. DQ054598 66268791 EPX 17 17q23.1 EPX HGNC:3423 true hsa:8288 NP_000493.1:NM_000502.4 calcium ion per heterodimer;heme B (iron-protoporphyrin IX) covalently through ester linkages to hydroxylated methyl groups formed auto-catalytically with hydrogen peroxide at the heme C-1 and C-5 positions. The ester linkage to Asp-232 was observed in 30% of the chains Tetramer of two light chains and two heavy chains 2020-06-12T23:06:48Z 2020-07-28T02:25:07Z 0 1 0 281 CDBP00280 Carbohydrate sulfotransferase 11 Q9NPF2 CHSTB_HUMAN true false Enzyme Homo_sapiens CHST11 352 41002.97 8.853 Involved in sulfotransferase activity Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Can also sulfate Gal residues in desulfated dermatan sulfate. Preferentially sulfates in GlcA->GalNAc unit than in IdoA->GalNAc unit. Does not form 4, 6-di-O-sulfated GalNAc when chondroitin sulfate C is used as an acceptor. AB042326 7768662 CHST11 12 12q CHST11 HGNC:17422 true hsa:50515 HS10284-MONOMER NP_001167453.1:NM_001173982.1;NP_060883.1:NM_018413.5 Widely expressed. Highly expressed in spleen, thymus, bone marrow, peripheral blood leukocytes, lymph node, heart, brain, lung and placenta. 2020-06-12T23:06:48Z 2020-07-28T02:25:07Z 1 0 0 282 CDBP00281 Carbohydrate sulfotransferase 3 Q7LGC8 CHST3_HUMAN true false Enzyme Homo_sapiens CHST3 479 54705.5 8.584 Involved in sulfotransferase activity Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Can also sulfate Gal residues of keratan sulfate, another glycosaminoglycan, and the Gal residues in sialyl N-acetyllactosamine (sialyl LacNAc) oligosaccharides. May play a role in the maintenance of naive T-lymphocytes in the spleen. AB012192 3510308 CHST3 10 10q22.1 CHST3 HGNC:1971 true hsa:9469 HS04610-MONOMER NP_004264.2:NM_004273.4 Widely expressed in adult tissues. Expressed in heart, placenta, skeletal muscle and pancreas. Also expressed in various immune tissues such as spleen, lymph node, thymus and appendix. 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 283 CDBP00282 Carbohydrate sulfotransferase 13 Q8NET6 CHSTD_HUMAN true false Enzyme Homo_sapiens CHST13 341 38919.34 10.543 Involved in sulfotransferase activity Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Transfers sulfate to the C4 hydroxyl of beta1,4-linked GalNAc that is substituted with a beta-linked glucuronic acid at the C-3 hydroxyl. No activity toward dermatan. AY120869 22651777 CHST13 3 3q21.3 CHST13 HGNC:21755 true hsa:166012 HS11524-MONOMER NP_690849.1:NM_152889.2 Highly expressed in adult liver. Expressed at lower level in kidney, lymph nodes and fetal kidney. 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 284 CDBP00283 Carbohydrate sulfotransferase 12 Q9NRB3 CHSTC_HUMAN true false Enzyme Homo_sapiens CHST12 414 48413.945 9.313 Involved in sulfotransferase activity Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin and desulfated dermatan sulfate. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Activity toward partially desulfated dermatan sulfate is however lower. Does not form 4, 6-di-O-sulfated GalNAc when chondroitin sulfate C is used as an acceptor. AF239822 8925968 CHST12 7 7p22 CHST12 HGNC:17423 true hsa:55501 HS06130-MONOMER NP_001230723.1:NM_001243794.1;NP_001230724.1:NM_001243795.1;NP_061111.1:NM_018641.4 Widely expressed. Expressed a high level in spinal chord, heart, spleen, thyroid, pituitary gland, adrenal gland, peripheral blood leukocytes, thymus, lung, small intestine, fetal kidney, fetal spleen and fetal lung. 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 285 CDBP00284 Sucrase-isomaltase, intestinal P14410 SUIS_HUMAN true false Enzyme Homo_sapiens SI 1827 Involved in catalytic activity Plays an important role in the final stage of carbohydrate digestion. Isomaltase activity is specific for both alpha-1,4- and alpha-1,6-oligosaccharides. 3LPO;3LPP X63597 36645 SI SI HGNC:10856 true hsa:6476 HS01688-MONOMER NP_001032.2:NM_001041.3 Expressed in the poorly differentiated crypt cells of the small intestine as well as in the mature villous cells. Expressed at very low levels in the colon. The resulting sucrase and isomaltase subunits stay associated with one another in a complex by non-covalent linkages 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 286 CDBP00285 4-trimethylaminobutyraldehyde dehydrogenase P49189 AL9A1_HUMAN true false Enzyme Homo_sapiens ALDH9A1 494 56291.485 6.564 Involved in oxidoreductase activity Converts gamma-trimethylaminobutyraldehyde into gamma-butyrobetaine. Catalyzes the irreversible oxidation of a broad range of aldehydes to the corresponding acids in an NAD-dependent reaction. AF172093 7248636 ALDH9A1 1 1q23.1 ALDH9A1 HGNC:412 true hsa:223 NP_000687.3:NM_000696.3 High expression in adult liver, skeletal muscle, and kidney. Low levels in heart, pancreas, lung and brain. Expressed in all regions of the brain. Expression levels are variable in the different brain areas, with the highest levels in the spinal cord and the lowest in the occipital pole. Homotetramer 2020-06-12T23:06:48Z 2020-07-28T02:25:07Z 0 0 0 287 CDBP00286 Aldehyde dehydrogenase, dimeric NADP-preferring P30838 AL3A1_HUMAN true false Enzyme Homo_sapiens ALDH3A1 453 50394.57 6.544 Involved in oxidoreductase activity ALDHs play a major role in the detoxification of alcohol-derived acetaldehyde. They are involved in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. This protein preferentially oxidizes aromatic aldehyde substrates. It may play a role in the oxidation of toxic aldehydes. 3SZA;3SZB NM_000691.4 22907049 ALDH3A1 17 17p11.2 ALDH3A1 HGNC:405 true hsa:218 NP_000682.3:NM_000691.4;NP_001128639.1:NM_001135167.1;NP_001128640.1:NM_001135168.1 High levels in stomach, esophagus and lung; low level in the liver and kidney. Homodimer 2020-06-12T23:06:48Z 2020-07-28T02:25:07Z 0 0 0 288 CDBP00287 Alpha-aminoadipic semialdehyde dehydrogenase P49419 AL7A1_HUMAN true false Enzyme Homo_sapiens ALDH7A1 539 58486.74 7.987 Involved in oxidoreductase activity Multifunctional enzyme mediating important protective effects. Metabolizes betaine aldehyde to betaine, an important cellular osmolyte and methyl donor. Protects cells from oxidative stress by metabolizing a number of lipid peroxidation-derived aldehydes. Involved in lysine catabolism. 2J6L NM_001182.3 188035924 ALDH7A1 5 5q31 ALDH7A1 HGNC:877 true hsa:501 NP_001173.2:NM_001182.4;NP_001188306.1:NM_001201377.1;NP_001189333.1:NM_001202404.1 Abundant in hepatoma cells and fetal cochlea, ovary, eye, heart, adrenal gland, liver and kidney. Low levels present in adult peripheral blood leukocytes and fetal brain, thymus, spleen, skeletal muscle, lung and tongue. Homotetramer 2020-06-12T23:06:48Z 2020-07-28T02:25:07Z 0 0 0 289 CDBP00288 Aldehyde dehydrogenase family 1 member A3 P47895 AL1A3_HUMAN true false Enzyme Homo_sapiens ALDH1A3 512 56107.995 7.253 Involved in oxidoreductase activity Recognizes as substrates free retinal and cellular retinol-binding protein-bound retinal. Seems to be the key enzyme in the formation of an RA gradient along the dorso-ventral axis during the early eye development and also in the development of the olfactory system (By similarity). BC069274 46621670 ALDH1A3 15 15q26.3 ALDH1A3 HGNC:409 true hsa:220 HS00013-MONOMER NP_000684.2:NM_000693.2 Expressed at low levels in many tissues and at higher levels in salivary gland, stomach, and kidney. 2020-06-12T23:06:48Z 2020-07-28T02:25:08Z 0 0 0 290 CDBP00289 Aldehyde dehydrogenase, mitochondrial P05091 ALDH2_HUMAN true false Enzyme Homo_sapiens ALDH2 517 56380.93 7.045 Involved in oxidoreductase activity 1CW3;1NZW;1NZX;1NZZ;1O00;1O01;1O02;1O04;1O05;1ZUM;2ONM;2ONN;2ONO;2ONP;2VLE;3INJ;3INL;3N80;3N81;3N82;3N83;3SZ9;4FQF;4FR8 X05409 28606 ALDH2 12 12q24.2 ALDH2 HGNC:404 true hsa:217 MONOMER66-302 NP_000681.2:NM_000690.3;NP_001191818.1:NM_001204889.1 Homotetramer 2020-06-12T23:06:48Z 2020-07-28T02:25:08Z 0 0 0 291 CDBP00290 Fatty aldehyde dehydrogenase P51648 AL3A2_HUMAN true false Enzyme Homo_sapiens ALDH3A2 485 54847.36 7.88 Involved in oxidoreductase activity Catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acids. Active on a variety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length. Responsible for conversion of the sphingosine 1-phosphate (S1P) degradation product hexadecenal to hexadecenoic acid. L47162 ALDH3A2 17 17p11.2 ALDH3A2 HGNC:403 true hsa:224 HS01061-MONOMER NP_000373.1:NM_000382.2;NP_001026976.1:NM_001031806.1 2020-06-12T23:06:48Z 2020-07-28T02:25:08Z 0 0 0 292 CDBP00291 Aldehyde dehydrogenase X, mitochondrial P30837 AL1B1_HUMAN true false Enzyme Homo_sapiens ALDH1B1 517 57248.96 6.987 Involved in oxidoreductase activity ALDHs play a major role in the detoxification of alcohol-derived acetaldehyde. They are involved in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. BT007418 ALDH1B1 9 9p11.1 ALDH1B1 HGNC:407 true hsa:219 NP_000683.3:NM_000692.4 Liver, testis and to a lesser extent in brain. Homotetramer 2020-06-12T23:06:48Z 2020-07-28T02:25:08Z 0 0 0 293 CDBP00292 Arginase-1 P05089 ARGI1_HUMAN true false Enzyme Homo_sapiens ARG1 322 34734.655 7.217 Involved in arginase activity 1WVA;1WVB;2AEB;2PHA;2PHO;2PLL;2ZAV;3DJ8;3E6K;3E6V;3F80;3GMZ;3GN0;3KV2;3LP4;3LP7;3MFV;3MFW;3MJL;3SJT;3SKK;3TF3;3TH7;3THE;3THH;3THJ;4FCI;4FCK;4GSM;4GSV;4GSZ;4GWC;4GWD M14502 178995 ARG1 6 6q23 ARG1 HGNC:663 true hsa:383 HS04231-MONOMER NP_000036.2:NM_000045.3;NP_001231367.1:NM_001244438.1 manganese ions Homotrimer 2020-06-12T23:06:48Z 2020-07-28T02:25:08Z 0 1 0 294 CDBP00293 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial P21953 ODBB_HUMAN true false Enzyme Homo_sapiens BCKDHB 392 43122.065 6.293 Involved in catalytic activity The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). 1DTW;1OLS;1OLU;1OLX;1U5B;1V11;1V16;1V1M;1V1R;1WCI;1X7W;1X7X;1X7Y;1X7Z;1X80;2BEU;2BEV;2BEW;2BFB;2BFC;2BFD;2BFE;2BFF;2J9F M55575 179362 BCKDHB 6 6q14.1 BCKDHB HGNC:987 true hsa:594 MONOMER-12006 NP_000047.1:NM_000056.3;NP_898871.1:NM_183050.2 Heterodimer of an alpha and a beta chain 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 295 CDBP00294 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial P12694 ODBA_HUMAN true false Enzyme Homo_sapiens BCKDHA 445 50470.58 8.263 Involved in oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). 1DTW;1OLS;1OLU;1OLX;1U5B;1V11;1V16;1V1M;1V1R;1WCI;1X7W;1X7X;1X7Y;1X7Z;1X80;2BEU;2BEV;2BEW;2BFB;2BFC;2BFD;2BFE;2BFF;2J9F Z14093 29391 BCKDHA 19 19q13.1-q13.2 BCKDHA HGNC:986 true hsa:593 MONOMER-12005 NP_000700.1:NM_000709.3 Thiamine pyrophosphate Heterotetramer of alpha and beta chains 2020-06-12T23:06:48Z 2020-07-28T02:25:08Z 0 1 0 296 CDBP00295 Branched-chain-amino-acid aminotransferase, cytosolic P54687 BCAT1_HUMAN true false Enzyme Homo_sapiens BCAT1 386 38644.77 4.99 Involved in catalytic activity Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine. 2ABJ;2COG;2COI;2COJ NM_005504.6 38176287 BCAT1 12 12p12.1 BCAT1 HGNC:976 true hsa:586 NP_001171562.1:NM_001178091.1;NP_001171563.1:NM_001178092.1;NP_001171564.1:NM_001178093.1;NP_001171565.1:NM_001178094.1;NP_005495.2:NM_005504.6 During embryogenesis, expressed in the brain and kidney. Overexpressed in MYC-induced tumors such as Burkitt's lymphoma. Pyridoxal phosphate Homodimer 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 297 CDBP00296 Prolyl 4-hydroxylase subunit alpha-2 O15460 P4HA2_HUMAN true false Enzyme Homo_sapiens P4HA2 535 60632.19 5.71 Involved in oxidoreductase activity Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins. U90441 P4HA2 5 5q31 P4HA2 HGNC:8547 true hsa:8974 NP_001017973.1:NM_001017973.1;NP_001017974.1:NM_001017974.1;NP_001136070.1:NM_001142598.1;NP_001136071.1:NM_001142599.1;NP_004190.1:NM_004199.2 Fe(2+) ion;Ascorbate Heterotetramer of two alpha-2 chains and two beta chains (the beta chain is the multi-functional PDI) 2020-06-12T23:06:48Z 2020-07-28T02:25:08Z 0 1 0 298 CDBP00297 Pyrroline-5-carboxylate reductase 1, mitochondrial P32322 P5CR1_HUMAN true false Enzyme Homo_sapiens PYCR1 319 33360.27 7.606 Involved in oxidoreductase activity Housekeeping enzyme that catalyzes the last step in proline biosynthesis. Can utilize both NAD and NADP, but has higher affinity for NAD. Involved in the cellular response to oxidative stress. 2GER;2GR9;2GRA;2IZZ BC001504 16306658 PYCR1 17 17q25.3 PYCR1 HGNC:9721 true hsa:5831 HS06848-MONOMER NP_008838.2:NM_006907.2;NP_722546.1:NM_153824.1 Homodecamer; composed of 5 homodimers 2020-06-12T23:06:48Z 2020-07-28T02:25:08Z 0 0 0 299 CDBP00298 Prolyl 4-hydroxylase subunit alpha-1 P13674 P4HA1_HUMAN true false Enzyme Homo_sapiens P4HA1 534 60966.645 6.007 Involved in oxidoreductase activity Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins. 1TJC;2V5F AL731563 55666281 P4HA1 10 10q21.3-q23.1 P4HA1 HGNC:8546 true hsa:5033 NP_000908.2:NM_000917.3;NP_001017962.1:NM_001017962.2;NP_001136067.1:NM_001142595.1;NP_001136068.1:NM_001142596.1 Fe(2+) ion;Ascorbate Heterotetramer of two alpha-1 chains and two beta chains (the beta chain is the multi-functional PDI) 2020-06-12T23:06:48Z 2020-07-28T02:25:08Z 0 1 0 300 CDBP00299 Pyrroline-5-carboxylate reductase 2 Q96C36 P5CR2_HUMAN true false Enzyme Homo_sapiens PYCR2 320 25867.975 9.263 Involved in oxidoreductase activity Housekeeping enzyme that catalyzes the last step in proline biosynthesis. In some cell types, such as erythrocytes, its primary function may be the generation of NADP(+). Can utilize both NAD and NADP. Has higher affinity for NADP, but higher catalytic efficiency with NADH. AF087859 33150582 PYCR2 1 1q42.12 PYCR2 HGNC:30262 true hsa:29920 NP_001258610.1:NM_001271681.1;NP_037460.2:NM_013328.3 Detected in erythrocytes (at protein level). Homodecamer; composed of 5 homodimers (Probable) 2020-06-12T23:06:48Z 2020-07-28T02:25:08Z 0 0 0 301 CDBP00300 L-xylulose reductase Q7Z4W1 DCXR_HUMAN true false Enzyme Homo_sapiens DCXR 244 25742.665 8.109 Involved in oxidoreductase activity Catalyzes the NADPH-dependent reduction of several pentoses, tetroses, trioses, alpha-dicarbonyl compounds and L-xylulose. Participates in the uronate cycle of glucose metabolism. May play a role in the water absorption and cellular osmoregulation in the proximal renal tubules by producing xylitol, an osmolyte, thereby preventing osmolytic stress from occurring in the renal tubules. 1PR9;1WNT;3D3W AB013846 DCXR 17 17q25.3 DCXR HGNC:18985 true hsa:51181 NP_001182147.1:NM_001195218.1;NP_057370.1:NM_016286.3 Highly expressed in kidney, liver and epididymis. In the epididymis, it is mainly expressed in the proximal and distal sections of the corpus region. Weakly or not expressed in brain, lung, heart, spleen and testis. Homotetramer 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 302 CDBP00301 Peroxisomal carnitine O-octanoyltransferase Q9UKG9 OCTC_HUMAN true false Enzyme Homo_sapiens CROT 612 10213.63 7.243 Involved in acyltransferase activity Beta-oxidation of fatty acids. The highest activity concerns the C6 to C10 chain length substrate. Converts the end product of pristanic acid beta oxidation, 4,8-dimethylnonanoyl-CoA, to its corresponding carnitine ester. AF073770 5305443 CROT 7 7q21.1 CROT HGNC:2366 true hsa:54677 NP_001230674.1:NM_001243745.1;NP_066974.2:NM_021151.3 Monomer (Probable) 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 303 CDBP00302 Carnitine O-palmitoyltransferase 1, muscle isoform Q92523 CPT1B_HUMAN true false Enzyme Homo_sapiens CPT1B 772 83890.705 8.291 Involved in acyltransferase activity AB003286 2257472 CPT1B 22 22q13.33 CPT1B HGNC:2329 true hsa:1375 NP_001138606.1:NM_001145134.1;NP_001138607.1:NM_001145135.1;NP_001138608.1:NM_001145136.1;NP_001138609.1:NM_001145137.1;NP_004368.1:NM_004377.3;NP_689451.1:NM_152245.2;NP_689452.1:NM_152246.2 Strong expression in heart and skeletal muscle. No expression in liver and kidney. 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 304 CDBP00303 Carnitine O-palmitoyltransferase 1, liver isoform P50416 CPT1A_HUMAN true false Enzyme Homo_sapiens CPT1A 773 86238.415 8.434 Involved in acyltransferase activity Catalyzes the transfer of the acyl group of long-chain fatty acid-CoA conjugates onto carnitine, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion. Plays an important role in triglyceride metabolism. 2LE3 NM_001876.3 73623030 CPT1A 11 11q13.2 CPT1A HGNC:2328 true hsa:1374 HS03286-MONOMER NP_001027017.1:NM_001031847.2;NP_001867.2:NM_001876.3 Strong expression in kidney and heart, and lower in liver and skeletal muscle. Homohexamer and homotrimer. Identified in a complex that contains at least CPT1A, ACSL1 and VDAC1. Also identified in complexes with ACSL1 and VDAC2 and VDAC3 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 305 CDBP00304 Lipoprotein lipase P06858 LIPL_HUMAN true false Enzyme Homo_sapiens LPL 475 53162.07 8.145 Involved in catalytic activity The primary function of this lipase is the hydrolysis of triglycerides of circulating chylomicrons and very low density lipoproteins (VLDL). Binding to heparin sulfate proteogylcans at the cell surface is vital to the function. The apolipoprotein, APOC2, acts as a coactivator of LPL activity in the presence of lipids on the luminal surface of vascular endothelium (By similarity). AK312311 189065397 LPL 8 8p22 LPL HGNC:6677 true hsa:4023 NP_000228.1:NM_000237.2 Homodimer . Interacts with APOC2; the interaction activates LPL activity in the presence of lipids. Interacts with GPIHBP1 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 306 CDBP00305 Carnitine O-palmitoyltransferase 2, mitochondrial P23786 CPT2_HUMAN true false Enzyme Homo_sapiens CPT2 658 73776.335 8.177 Involved in acyltransferase activity U09648 CPT2 1 1p32 CPT2 HGNC:2330 true hsa:1376 NP_000089.1:NM_000098.2 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 307 CDBP00306 Carnitine O-palmitoyltransferase 1, brain isoform Q8TCG5 CPT1C_HUMAN true false Enzyme Homo_sapiens CPT1C 803 89712.575 8.212 Involved in acyltransferase activity AF357970 33340613 CPT1C 19 19q13.33 CPT1C HGNC:18540 true hsa:126129 NP_001129524.1:NM_001136052.2;NP_001186681.1:NM_001199752.1;NP_001186682.1:NM_001199753.1;NP_689572.1:NM_152359.2 Expressed predominantly in brain and testis. Peripherally associated with AMPAR complex. AMPAR complex consists of an inner core made of 4 pore-forming GluA/GRIA proteins (GRIA1, GRIA2, GRIA3 and GRIA4) and 4 major auxiliary subunits arranged in a twofold symmetry. One of the two pairs of distinct binding sites is occupied either by CNIH2, CNIH3 or CACNG2, CACNG3. The other harbors CACNG2, CACNG3, CACNG4, CACNG8 or GSG1L. This inner core of AMPAR complex is complemented by outer core constituents binding directly to the GluA/GRIA proteins at sites distinct from the interaction sites of the inner core constituents. Outer core constituents include at least PRRT1, PRRT2, CKAMP44/SHISA9, FRRS1L and NRN1. The proteins of the inner and outer core serve as a platform for other, more peripherally associated AMPAR constituents, including CPT1C. Alone or in combination, these auxiliary subunits control the gating and pharmacology of the AMPAR complex and profoundly impact their biogenesis and protein processing 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 308 CDBP00307 Acyl-CoA desaturase O00767 ACOD_HUMAN true false Enzyme Homo_sapiens SCD 359 41522.28 9.002 Involved in oxidoreductase activity Terminal component of the liver microsomal stearyl-CoA desaturase system, that utilizes O(2) and electrons from reduced cytochrome b5 to catalyze the insertion of a double bond into a spectrum of fatty acyl-CoA substrates including palmitoyl-CoA and stearoyl-CoA. AB032261 7415721 SCD 10 10q24.31 SCD HGNC:10571 true hsa:6319 NP_005054.3:NM_005063.4 Iron 2020-06-12T23:06:48Z 2020-07-28T02:25:09Z 0 1 0 309 CDBP00308 Monoglyceride lipase Q99685 MGLL_HUMAN true false Enzyme Homo_sapiens MGLL 303 Lipid transport and metabolism Converts monoacylglycerides to free fatty acids and glycerol. Hydrolyzes the endocannabinoid 2-arachidonoylglycerol, and thereby contributes to the regulation of endocannabinoid signaling, nociperception and perception of pain (By similarity). Regulates the levels of fatty acids that serve as signaling molecules and promote cancer cell migration, invasion and tumor growth. 3HJU;3JW8;3JWE;3PE6 AJ270950 14594904 MGLL MGLL HGNC:17038 true hsa:11343 NP_001003794.1:NM_001003794.2;NP_001243514.1:NM_001256585.1;NP_009214.1:NM_007283.6 Detected in adipose tissue, lung, liver, kidney, brain and heart. Homodimer 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 310 CDBP00309 Galactocerebrosidase P54803 GALC_HUMAN true false Enzyme Homo_sapiens GALC 685 77062.86 6.636 Involved in galactosylceramidase activity Hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Enzyme with very low activity responsible for the lysosomal catabolism of galactosylceramide, a major lipid in myelin, kidney and epithelial cells of small intestine and colon. NM_000153.2 83281450 GALC 14 14q31 GALC HGNC:4115 true hsa:2581 NP_000144.2:NM_000153.3;NP_001188330.1:NM_001201401.1;NP_001188331.1:NM_001201402.1 Highest level of activity in testes compared to brain, kidney, placenta and liver. Can also be found in urine. 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 311 CDBP00310 Arylsulfatase D P51689 ARSD_HUMAN true false Enzyme Homo_sapiens ARSD 593 64859.3 7.24 Involved in catalytic activity ["1-33"] ["None"] X83572 791002 ARSD ARSD HGNC:717 true 2020-06-12T23:06:48Z 2020-07-28T02:25:09Z 0 0 0 312 CDBP00311 Sialidase-2 Q9Y3R4 NEUR2_HUMAN true false Enzyme Homo_sapiens NEU2 380 Involved in exo-alpha-sialidase activity Hydrolyzes sialylated compounds. 1SNT;1SO7;1VCU;2F0Z;2F10;2F11;2F12;2F13;2F24;2F25;2F26;2F27;2F28;2F29 BC069151 46575656 NEU2 NEU2 HGNC:7759 true hsa:4759 NP_005374.2:NM_005383.2 Expressed in skeletal muscle, fetal liver and embryonic carcinoma cell line NT2-D1. 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 313 CDBP00312 Galactosylceramide sulfotransferase Q99999 G3ST1_HUMAN true false Enzyme Homo_sapiens GAL3ST1 423 48763.63 8.618 Involved in galactosylceramide sulfotransferase activity Catalyzes the sulfation of membrane glycolipids. Seems to prefer beta-glycosides at the non-reducing termini of sugar chains attached to a lipid moiety. Catalyzes the synthesis of galactosylceramide sulfate (sulfatide), a major lipid component of the myelin sheath and of monogalactosylalkylacylglycerol sulfate (seminolipid), present in spermatocytes (By similarity). Also acts on lactosylceramide, galactosyl 1-alkyl-2-sn-glycerol and galactosyl diacylglycerol (in vitro). AB029901 6714628 GAL3ST1 22 22q12.2 GAL3ST1 HGNC:24240 true hsa:9514 NP_004852.1:NM_004861.1 Expressed in kidney proximal tubule, gastric mucosa and adenocarcinoma. Highly expressed in renal cell carcinoma cell lines. 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 314 CDBP00313 Sialidase-3 Q9UQ49 NEUR3_HUMAN true false Enzyme Homo_sapiens NEU3 428 48251.5 7.17 Involved in exo-alpha-sialidase activity Plays a role in modulating the ganglioside content of the lipid bilayer at the level of membrane-bound sialyl glycoconjugates ["None"] ["None"] AB008185 5631293 NEU3 Chromosome:1 11q13.5 NEU3 HGNC:7760 true 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 315 CDBP00314 Arylsulfatase A P15289 ARSA_HUMAN true false Enzyme Homo_sapiens ARSA 507 53805.87 6.07 Involved in catalytic activity Hydrolyzes cerebroside sulfate. 1AUK;1E1Z;1E2S;1E33;1E3C;1N2K;1N2L;2AIJ;2AIK X52151 28858 ARSA 22 22q13.33 ARSA HGNC:713 true hsa:410 NP_000478.3:NM_000487.5;NP_001078894.2:NM_001085425.2;NP_001078895.2:NM_001085426.2;NP_001078896.2:NM_001085427.2;NP_001078897.1:NM_001085428.2 calcium ion Homodimer at neutral pH and homooctamer at acidic pH. Exists both as a single chain of 58 kDa (component A) or as a chain of 50 kDa (component B) linked by disulfide bond(s) to a 7 kDa chain (component C). Interacts with SUMF1 2020-06-12T23:06:48Z 2020-07-28T02:25:10Z 0 0 0 316 CDBP00315 Arylsulfatase B P15848 ARSB_HUMAN true false Enzyme Homo_sapiens ARSB 533 Involved in catalytic activity 1FSU J05225 179077 ARSB ARSB HGNC:714 true hsa:411 HS03665-MONOMER NP_000037.2:NM_000046.3;NP_942002.1:NM_198709.2 calcium ion Monomer 2020-06-12T23:06:48Z 2020-07-28T02:25:10Z 0 1 0 317 CDBP00316 Sialidase-4 Q8WWR8 NEUR4_HUMAN true false Enzyme Homo_sapiens NEU4 484 Involved in exo-alpha-sialidase activity May function in lysosomal catabolism of sialylated glycoconjugates. Has sialidase activity towards synthetic substrates, such as 2'-(4-methylumbelliferyl)-alpha-D-N-acetylneuraminic acid (4-MU-NANA or 4MU-NeuAc). Has a broad substrate specificity being active on glycoproteins, oligosaccharides and sialylated glycolipids. NM_001167600.1 262527265 NEU4 NEU4 HGNC:21328 true hsa:129807 NP_001161071.1:NM_001167599.1;NP_001161072.1:NM_001167600.1;NP_001161073.1:NM_001167601.1;NP_001161074.1:NM_001167602.1;NP_542779.2:NM_080741.2 Ubiquitous with higher expression in heart, skeletal muscle, liver and placenta. 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 318 CDBP00317 Sialidase-1 Q99519 NEUR1_HUMAN true false Enzyme Homo_sapiens NEU1 415 Involved in exo-alpha-sialidase activity Catalyzes the removal of sialic acid (N-acetylneuramic acid) moities from glycoproteins and glycolipids. To be active, it is strictly dependent on its presence in the multienzyme complex. Appears to have a preference for alpha 2-3 and alpha 2-6 sialyl linkage. AF040958 NEU1 NEU1 HGNC:7758 true hsa:4758 NP_000425.1:NM_000434.3 Highly expressed in pancreas, followed by skeletal muscle, kidney, placenta, heart, lung and liver. Weakly expressed in brain. Interacts with cathepsin A (protective protein), beta-galactosidase and N-acetylgalactosamine-6-sulfate sulfatase in a multienzyme complex 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 319 CDBP00318 Arylsulfatase E P51690 ARSE_HUMAN true false Enzyme Homo_sapiens ARSE 589 65668.4 6.96 Involved in catalytic activity May be essential for the correct composition of cartilage and bone matrix during development. Has no activity toward steroid sulfates ["1-31"] ["None"] AK223183 62897927 ARSE ARSE HGNC:719 true 2020-06-12T23:06:48Z 2020-07-28T02:25:11Z 0 0 0 320 CDBP00319 Kynureninase Q16719 KYNU_HUMAN true false Enzyme Homo_sapiens KYNU 465 34634.47 5.845 Involved in metabolic process Catalyzes the cleavage of L-kynurenine (L-Kyn) and L-3-hydroxykynurenine (L-3OHKyn) into anthranilic acid (AA) and 3-hydroxyanthranilic acid (3-OHAA), respectively. Has a preference for the L-3-hydroxy form. Also has cysteine-conjugate-beta-lyase activity. 2HZP;3E9K U57721 12654129 KYNU 2 2q22.2 KYNU HGNC:6469 true hsa:8942 NP_001028170.1:NM_001032998.1;NP_001186170.1:NM_001199241.1;NP_003928.1:NM_003937.2 Expressed in all tissues tested (heart, brain placenta, lung, liver, skeletal muscle, kidney and pancreas). Highest levels found in placenta, liver and lung. Expressed in all brain regions. Pyridoxal phosphate Homodimer 2020-06-12T23:06:48Z 2020-07-28T02:25:11Z 0 0 0 321 CDBP00320 Annexin A3 P12429 ANXA3_HUMAN false false Metal Binding Homo_sapiens ANXA3 323 36374.8 5.71 Involved in calcium ion binding Inhibitor of phospholipase A2, also possesses anti- coagulant properties. Also cleaves the cyclic bond of inositol 1,2-cyclic phosphate to form inositol 1-phosphate ["None"] ["None"] 1AII M20560 ANXA3 Chromosome:4 4q21.21 ANXA3 HGNC:541 true 2020-06-12T23:06:48Z 2020-07-28T02:31:56Z 0 1 0 322 CDBP00321 6-phosphogluconolactonase O95336 6PGL_HUMAN true false Enzyme Homo_sapiens PGLS 258 27546.495 6.048 Involved in 6-phosphogluconolactonase activity Hydrolysis of 6-phosphogluconolactone to 6-phosphogluconate. NM_012088.2 6912586 PGLS 19 19p13.2 PGLS HGNC:8903 true hsa:25796 NP_036220.1:NM_012088.2 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 323 CDBP00322 Glucose-6-phosphate 1-dehydrogenase P11413 G6PD_HUMAN true false Enzyme Homo_sapiens G6PD 515 62467.88 8.039 Involved in glucose-6-phosphate dehydrogenase activity Produces pentose sugars for nucleic acid synthesis and main producer of NADPH reducing power. 1QKI;2BH9;2BHL X03674 31543 G6PD X Xq28 G6PD HGNC:4057 true hsa:2539 NP_000393.4:NM_000402.3;NP_001035810.1:NM_001042351.1 Isoform Long is found in lymphoblasts, granulocytes and sperm. Homodimer or homotetramer 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 324 CDBP00323 GDH/6PGL endoplasmic bifunctional protein O95479 G6PE_HUMAN false false Enzyme Homo_sapiens H6PD 791 88891.99 7.302 Involved in 6-phosphogluconolactonase activity Oxidizes glucose-6-phosphate and glucose, as well as other hexose-6-phosphates. AJ012590 4186038 H6PD 1 1p36 H6PD HGNC:4795 true hsa:9563 NP_004276.2:NM_004285.3 Present in most tissues examined, strongest in liver. 2020-06-12T23:06:48Z 2020-07-28T02:33:14Z 0 0 0 325 CDBP00324 Trifunctional purine biosynthetic protein adenosine-3 P22102 PUR2_HUMAN true false Enzyme Homo_sapiens GART 1010 107766.295 6.702 Involved in catalytic activity 1MEJ;1MEN;1MEO;1NJS;1RBM;1RBQ;1RBY;1RBZ;1RC0;1RC1;1ZLX;1ZLY;2QK4;2V9Y X54199 31642 GART 21 21q22.11 GART HGNC:4163 true hsa:2618 NP_000810.1:NM_000819.4;NP_001129477.1:NM_001136005.1;NP_001129478.1:NM_001136006.1;NP_780294.1:NM_175085.2 2020-06-12T23:06:48Z 2020-07-28T02:25:12Z 0 1 0 326 CDBP00325 Amidophosphoribosyltransferase Q06203 PUR1_HUMAN true false Enzyme Homo_sapiens PPAT 517 57398.52 6.749 Involved in amidophosphoribosyltransferase activity D13757 PPAT 4 4q12 PPAT HGNC:9238 true hsa:5471 NP_002694.3:NM_002703.4 Ubiquitously expressed. magnesium ion;4Fe-4S cluster Homotetramer 2020-06-12T23:06:48Z 2020-07-28T02:25:12Z 0 1 0 327 CDBP00326 Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase Q9Y223 GLCNE_HUMAN true false Enzyme Homo_sapiens GNE 722 83065.25 6.933 Involved in ATP binding Regulates and initiates biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. Plays an essential role in early development (By similarity). Required for normal sialylation in hematopoietic cells. Sialylation is implicated in cell adhesion, signal transduction, tumorigenicity and metastatic behavior of malignant cells. 2YHW;2YHY;2YI1;3EO3 AF051852 4887658 GNE 9 9p13.3 GNE HGNC:23657 true hsa:10020 NP_001121699.1:NM_001128227.2;NP_001177312.1:NM_001190383.1;NP_001177313.1:NM_001190384.1;NP_001177317.1:NM_001190388.1;NP_005467.1:NM_005476.5 Highest expression in liver and placenta. Also found in heart, brain, lung, kidney, skeletal muscle and pancreas. Isoform 1 is expressed in heart, brain, kidney, liver, placenta, lung, spleen, pancreas, skeletal muscle and colon. Isoform 2 is expressed mainly in placenta, but also in brain, kidney, liver, lung, pancreas and colon. Isoform 3 is expressed at low level in kidney, liver, placenta and colon. Homodimer and homohexamer 2020-06-12T23:06:48Z 2020-07-28T02:25:12Z 0 1 0 328 CDBP00327 Sialic acid synthase Q9NR45 SIAS_HUMAN true false Enzyme Homo_sapiens NANS 359 40307.26 6.744 Involved in catalytic activity Produces N-acetylneuraminic acid (Neu5Ac) and 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN). Can also use N-acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of Neu5Ac and KDN, respectively. 1WVO AF257466 8453156 NANS 9 9p24.1-p23 NANS HGNC:19237 true hsa:54187 HS01818-MONOMER NP_061819.2:NM_018946.3 Ubiquitous. 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 329 CDBP00328 N-acylglucosamine 2-epimerase P51606 RENBP_HUMAN true false Enzyme Homo_sapiens RENBP 427 48830.6 6.365 Involved in catalytic activity Catalyzes the interconversion of N-acetylglucosamine to N-acetylmannosamine. Binds to renin forming a protein complex called high molecular weight (HMW) renin and inhibits renin activity. Involved in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway: although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded. NM_002910.5 213417820 RENBP X Xq28 RENBP HGNC:9959 true hsa:5973 NP_002901.2:NM_002910.5 Homodimer 2020-06-12T23:06:48Z 2020-06-12T23:06:48Z 0 0 0 330 CDBP00329 Nicotinamide mononucleotide adenylyltransferase 1 Q9HAN9 NMNA1_HUMAN true false Enzyme Homo_sapiens NMNAT1 279 31932.22 8.86 Involved in nucleotidyltransferase activity Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP. Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate with the same efficiency. Can use triazofurin monophosphate (TrMP) as substrate. Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD(+). For the pyrophosphorolytic activity, prefers NAD(+) and NAAD as substrates and degrades NADH, nicotinic acid adenine dinucleotide phosphate (NHD) and nicotinamide guanine dinucleotide (NGD) less effectively. Fails to cleave phosphorylated dinucleotides NADP(+), NADPH and NAADP(+). Protects against axonal degeneration following mechanical or toxic insults. 1GZU;1KKU;1KQN;1KQO;1KR2 AF314163 189055023 NMNAT1 1 1p36.22 NMNAT1 HGNC:17877 true hsa:64802 NP_073624.2:NM_022787.3 Widely expressed with highest levels in skeletal muscle, heart and kidney. Also expressed in the liver pancreas and placenta. Widely expressed throughout the brain. Divalent metal cations. Zinc confers higher activity as compared to magnesium Homohexamer. Interacts with ADPRT/PARP1 2020-06-12T23:06:49Z 2020-07-28T02:25:12Z 0 0 0 331 CDBP00330 Nicotinamide mononucleotide adenylyltransferase 3 Q96T66 NMNA3_HUMAN true false Enzyme Homo_sapiens NMNAT3 252 18255.08 9.217 Involved in nucleotidyltransferase activity Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP. Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate with the same efficiency. Can use triazofurin monophosphate (TrMP) as substrate. Can also use GTP and ITP as nucleotide donors. Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD(+). For the pyrophosphorolytic activity, can use NAD (+), NADH, NAAD, nicotinic acid adenine dinucleotide phosphate (NHD), nicotinamide guanine dinucleotide (NGD) as substrates. Fails to cleave phosphorylated dinucleotides NADP(+), NADPH and NAADP(+). Protects against axonal degeneration following injury. 1NUP;1NUQ;1NUR;1NUS;1NUT;1NUU AF345564 14029540 NMNAT3 3 3q23 NMNAT3 HGNC:20989 true hsa:349565 NP_001186976.1:NM_001200047.1;NP_835471.1:NM_178177.3 Expressed in lung and spleen with lower levels in placenta and kidney. Divalent metal cations. Magnesium confers the highest activity Homotetramer 2020-06-12T23:06:49Z 2020-07-28T02:25:12Z 0 0 0 332 CDBP00331 Nicotinate-nucleotide pyrophosphorylase [carboxylating] Q15274 NADC_HUMAN true false Enzyme Homo_sapiens QPRT 297 30815.28 6.211 Involved in catalytic activity Involved in the catabolism of quinolinic acid (QA). 2JBM;3LAR BC005060 13477197 QPRT 16 16p11.2 QPRT HGNC:9755 true hsa:23475 NP_055113.2:NM_014298.3 Hexamer formed by 3 homodimers 2020-06-12T23:06:49Z 2020-07-28T02:25:12Z 0 0 0 333 CDBP00332 Nicotinamide mononucleotide adenylyltransferase 2 Q9BZQ4 NMNA2_HUMAN true false Enzyme Homo_sapiens NMNAT2 307 34438.38 7.06 Involved in nucleotidyltransferase activity Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP. Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate but with a lower efficiency. Cannot use triazofurin monophosphate (TrMP) as substrate. Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD(+). For the pyrophosphorolytic activity prefers NAD(+), NADH and NAAD as substrates and degrades nicotinic acid adenine dinucleotide phosphate (NHD) less effectively. Fails to cleave phosphorylated dinucleotides NADP(+), NADPH and NAADP(+). NM_015039.2 24307989 NMNAT2 1 1q25 NMNAT2 HGNC:16789 true hsa:23057 NP_055854.1:NM_015039.3;NP_733820.1:NM_170706.3 Highly expressed in brain, in particular in cerebrum, cerebellum, occipital lobe, frontal lobe, temporal lobe and putamen. Also found in the heart, skeletal muscle, pancreas and islets of Langerhans. Divalent metal cations. Magnesium confers the highest activity Monomer 2020-06-12T23:06:49Z 2020-07-28T02:25:12Z 0 0 0 334 CDBP00333 Heparan sulfate glucosamine 3-O-sulfotransferase 3B1 Q9Y662 HS3SB_HUMAN true false Enzyme Homo_sapiens HS3ST3B1 390 43323.605 9.632 Involved in sulfotransferase activity Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to an N-unsubstituted glucosamine linked to a 2-O-sulfo iduronic acid unit on heparan sulfate. Catalyzes the O-sulfation of glucosamine in IdoUA2S-GlcNS and also in IdoUA2S-GlcNH2. The substrate-specific O-sulfation generates an enzyme-modified heparan sulfate which acts as a binding receptor to Herpes simplex virus-1 (HSV-1) and permits its entry. Unlike 3-OST-1, does not convert non-anticoagulant heparan sulfate to anticoagulant heparan sulfate. AF105377 4835725 HS3ST3B1 17 17p12 HS3ST3B1 HGNC:5198 true hsa:9953 HS04884-MONOMER NP_006032.1:NM_006041.1 Ubiquitous. Most abundant in liver and placenta, followed by heart and kidney. 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 335 CDBP00334 Heparan sulfate glucosamine 3-O-sulfotransferase 3A1 Q9Y663 HS3SA_HUMAN true false Enzyme Homo_sapiens HS3ST3A1 406 44899.155 9.496 Involved in sulfotransferase activity Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to an N-unsubstituted glucosamine linked to a 2-O-sulfo iduronic acid unit on heparan sulfate. Catalyzes the O-sulfation of glucosamine in IdoUA2S-GlcNS and also in IdoUA2S-GlcNH2. The substrate-specific O-sulfation generates an enzyme-modified heparan sulfate which acts as a binding receptor to Herpes simplex virus-1 (HSV-1) and permits its entry. Unlike 3-OST-1, does not convert non-anticoagulant heparan sulfate to anticoagulant heparan sulfate. 1T8T;1T8U AF105376 HS3ST3A1 17 17p12 HS3ST3A1 HGNC:5196 true hsa:9955 HS07937-MONOMER NP_006033.1:NM_006042.1 Ubiquitous. Most abundant in heart and placenta, followed by liver and kidney. 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 336 CDBP00335 Sulfotransferase 1A1 P50225 ST1A1_HUMAN true false Enzyme Homo_sapiens SULT1A1 295 34165.13 6.624 Involved in sulfotransferase activity Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of catecholamines, phenolic drugs and neurotransmitters. Has also estrogen sulfotransferase activity. responsible for the sulfonation and activation of minoxidil. Is Mediates the metabolic activation of carcinogenic N-hydroxyarylamines to DNA binding products and could so participate as modulating factor of cancer risk. 1LS6;1Z28;2D06;3QVU;3QVV;3U3J;3U3K;3U3M;3U3O;3U3R;4GRA AB062428 21104442 SULT1A1 16 16p12.1 SULT1A1 HGNC:11453 true hsa:6817 HS09898-MONOMER NP_001046.2:NM_001055.3;NP_803565.1:NM_177529.2;NP_803566.1:NM_177530.2;NP_803878.1:NM_177534.2;NP_803880.1:NM_177536.3 Liver, lung, adrenal, brain, platelets and skin. Homodimer 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 337 CDBP00336 3'(2'),5'-bisphosphate nucleotidase 1 O95861 BPNT1_HUMAN true false Enzyme Homo_sapiens BPNT1 308 33392.035 5.688 Involved in inositol or phosphatidylinositol phosphatase activity Converts adenosine 3'-phosphate 5'-phosphosulfate (PAPS) to adenosine 5'-phosphosulfate (APS) and 3'(2')-phosphoadenosine 5'- phosphate (PAP) to AMP. Has 1000-fold lower activity towards inositol 1,4-bisphosphate (Ins(1,4)P2) and inositol 1,3,4-trisphosphate (Ins(1,3,4)P3), but does not hydrolyze Ins(1)P, Ins(3,4)P2, Ins(1,3,4,5)P4 or InsP6. 2WEF AF125042 BPNT1 1 1q41 BPNT1 HGNC:1096 true hsa:10380 NP_006076.4:NM_006085.4 Highly expressed in kidney, liver, pancreas and heart. Detected at lower levels in brain, placenta, lung and skeletal muscle. Magnesium 2020-06-12T23:06:49Z 2020-07-28T02:25:13Z 0 0 0 338 CDBP00337 Heparan sulfate glucosamine 3-O-sulfotransferase 1 O14792 HS3S1_HUMAN true false Enzyme Homo_sapiens HS3ST1 307 35772.77 8.84 Involved in sulfotransferase activity Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to position 3 of glucosamine residues in heparan. Catalyzes the rate limiting step in the biosynthesis of heparan sulfate (HSact). This modification is a crucial step in the biosynthesis of anticoagulant heparan sulfate as it completes the structure of the antithrombin pentasaccharide binding site. 1ZRH AF019386 2618973 HS3ST1 4 4p16 HS3ST1 HGNC:5194 true hsa:9957 HS00082-MONOMER NP_005105.1:NM_005114.2 Highly expressed in the brain and kidney and weakly expressed in the heart, lung and placenta. 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 339 CDBP00338 Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1 O43252 PAPS1_HUMAN true false Enzyme Homo_sapiens PAPSS1 624 70832.725 6.855 Involved in ATP binding Bifunctional enzyme with both ATP sulfurylase and APS kinase activity, which mediates two steps in the sulfate activation pathway. The first step is the transfer of a sulfate group to ATP to yield adenosine 5'-phosphosulfate (APS), and the second step is the transfer of a phosphate group from ATP to APS yielding 3'-phosphoadenylylsulfate (PAPS: activated sulfate donor used by sulfotransferase). In mammals, PAPS is the sole source of sulfate; APS appears to be only an intermediate in the sulfate-activation pathway. Also involved in the biosynthesis of sulfated L-selectin ligands in endothelial cells. 1X6V;1XJQ;1XNJ;2OFW;2OFX;2PEY;2PEZ;2QJF Y10387 2673862 PAPSS1 4 4q24 PAPSS1 HGNC:8603 true hsa:9061 NP_005434.4:NM_005443.4 Expressed in testis, pancreas, kidney, thymus, prostate, ovary, small intestine, colon, leukocytes and liver. Also expressed in high endothelial venules (HEV) cells and in cartilage. 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 340 CDBP00339 Estrogen sulfotransferase P49888 ST1E1_HUMAN true false Enzyme Homo_sapiens SULT1E1 294 35126.185 6.627 Involved in sulfotransferase activity Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of estradiol and estrone. May play a role in the regulation of estrogen receptor activity by metabolizing free estradiol. Maximally sulfates beta-estradiol and estrone at concentrations of 20 nM. Also sulfates dehydroepiandrosterone, pregnenolone, ethinylestradiol, equalenin, diethylstilbesterol and 1-naphthol, at significantly higher concentrations; however, cortisol, testosterone and dopamine are not sulfated. 1G3M;1HY3 U08098 SULT1E1 4 4q13.1 SULT1E1 HGNC:11377 true hsa:6783 NP_005411.1:NM_005420.2 Liver, intestine and at lower level in the kidney. Homodimer 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 341 CDBP00340 Bile salt sulfotransferase Q06520 ST2A1_HUMAN true false Enzyme Homo_sapiens SULT2A1 285 33779.57 5.951 Involved in sulfotransferase activity Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfonation of steroids and bile acids in the liver and adrenal glands. 1EFH;1J99;1OV4;2QP3;2QP4;3F3Y BC020755 18088457 SULT2A1 19 19q13.3 SULT2A1 HGNC:11458 true hsa:6822 NP_003158.2:NM_003167.3 Liver, adrenal and at lower level in the kidney. Is present in human fetus in higher level in the adrenal than the liver and the kidney. Homodimer 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 342 CDBP00341 Carbohydrate sulfotransferase 1 O43916 CHST1_HUMAN true false Enzyme Homo_sapiens CHST1 411 46714.21 8.968 Involved in sulfotransferase activity Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of galactose (Gal) residues of keratan. Has a preference for sulfating keratan sulfate, but it also transfers sulfate to the unsulfated polymer. The sulfotransferase activity on sialyl LacNAc structures is much higher than the corresponding desialylated substrate, and only internal Gal residues are sulfated. May function in the sulfation of sialyl N-acetyllactosamine oligosaccharide chains attached to glycoproteins. Participates in biosynthesis of selectin ligands. Selectin ligands are present in high endothelial cells (HEVs) and play a central role in lymphocyte homing at sites of inflammation. AB003791 2887403 CHST1 11 11p11.2 CHST1 HGNC:1969 true hsa:8534 NP_003645.1:NM_003654.5 Widely expressed at low level. Expressed in brain and skeletal muscle. Expressed by high endothelial cells (HEVs) and leukocytes. 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 343 CDBP00342 Heparan sulfate glucosamine 3-O-sulfotransferase 4 Q9Y661 HS3S4_HUMAN true false Enzyme Homo_sapiens HS3ST4 456 49798.645 8.684 Involved in sulfotransferase activity Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to an N-unsubstituted glucosamine linked to a 2-O-sulfo iduronic acid unit on heparan sulfate. Unlike 3-OST-1, does not convert non-anticoagulant heparan sulfate to anticoagulant heparan sulfate (By similarity). AF105378 46398191 HS3ST4 16 16p11.2 HS3ST4 HGNC:5200 true hsa:9951 NP_006031.2:NM_006040.2 Brain-specific. 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 344 CDBP00343 Sulfotransferase 1A2 P50226 ST1A2_HUMAN true false Enzyme Homo_sapiens SULT1A2 295 34310.43 7.276 Involved in sulfotransferase activity Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of catecholamines, phenolic drugs and neurotransmitters. Is also responsible for the sulfonation and activation of minoxidil. Mediates the metabolic activation of carcinogenic N-hydroxyarylamines to DNA binding products and could so participate as modulating factor of cancer risk. 1Z29 NM_001054.3 4507303 SULT1A2 16 16p12.1 SULT1A2 HGNC:11454 true hsa:6799 NP_001045.1:NM_001054.3;NP_803564.1:NM_177528.2 Homodimer 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 345 CDBP00344 Heparan sulfate glucosamine 3-O-sulfotransferase 5 Q8IZT8 HS3S5_HUMAN true false Enzyme Homo_sapiens HS3ST5 346 40407.865 9.786 Involved in sulfotransferase activity Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to position 3 of glucosamine residues in heparan. Catalyzes the rate limiting step in the biosynthesis of heparan sulfate (HSact). This modification is a crucial step in the biosynthesis of anticoagulant heparan sulfate as it completes the structure of the antithrombin pentasaccharide binding site. Also generates GlcUA-GlcNS or IdoUA-GlcNS and IdoUA2S-GlcNH2. The substrate-specific O-sulfation generates an enzyme-modified heparan sulfate which acts as a binding receptor to Herpes simplex virus-1 (HSV-1) and permits its entry. 3BD9 AF503292 23506319 HS3ST5 6 6q21 HS3ST5 HGNC:19419 true hsa:222537 NP_705840.2:NM_153612.3 Highly expressed in skeletal muscle and fetal brain, and also found in adult brain, spinal cord, cerebellum and colon. 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 346 CDBP00345 Heparan sulfate glucosamine 3-O-sulfotransferase 2 Q9Y278 HS3S2_HUMAN true false Enzyme Homo_sapiens HS3ST2 367 41500.57 9.895 Involved in sulfotransferase activity Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to an N-unsubstituted glucosamine linked to a 2-O-sulfo iduronic acid unit on heparan sulfate. Catalyzes the O-sulfation of glucosamine in GlcA2S-GlcNS. Unlike 3-OST-1, does not convert non-anticoagulant heparan sulfate to anticoagulant heparan sulfate. AF105374 4835719 HS3ST2 16 16p12 HS3ST2 HGNC:5195 true hsa:9956 HS04557-MONOMER NP_006034.1:NM_006043.1 Highly expressed in the brain and weakly expressed in the heart, placenta, lung and skeletal muscle. 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 347 CDBP00346 Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 O95340 PAPS2_HUMAN true false Enzyme Homo_sapiens PAPSS2 614 69969.8 8.026 Involved in ATP binding Bifunctional enzyme with both ATP sulfurylase and APS kinase activity, which mediates two steps in the sulfate activation pathway. The first step is the transfer of a sulfate group to ATP to yield adenosine 5'-phosphosulfate (APS), and the second step is the transfer of a phosphate group from ATP to APS yielding 3'-phosphoadenylylsulfate (PAPS: activated sulfate donor used by sulfotransferase). In mammals, PAPS is the sole source of sulfate; APS appears to be only an intermediate in the sulfate-activation pathway. May have a important role in skeletogenesis during postnatal growth (By similarity). 2AX4 AF074331 5052075 PAPSS2 10 10q24 PAPSS2 HGNC:8604 true hsa:9060 NP_001015880.1:NM_001015880.1;NP_004661.2:NM_004670.3 Expressed in cartilage and adrenal gland. 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 348 CDBP00347 Protein-tyrosine sulfotransferase 2 O60704 TPST2_HUMAN true false Enzyme Homo_sapiens TPST2 377 41911.47 9.089 Involved in sulfotransferase activity Catalyzes the O-sulfation of tyrosine residues within acidic motifs of polypeptides. 3AP1;3AP2;3AP3 AF049891 3617846 TPST2 22 22q12.1 TPST2 HGNC:12021 true hsa:8459 NP_001008566.1:NM_001008566.1;NP_003586.3:NM_003595.3 Widely expressed. 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 349 CDBP00348 Sulfotransferase family cytosolic 2B member 1 O00204 ST2B1_HUMAN true false Enzyme Homo_sapiens SULT2B1 365 39598.595 6.547 Involved in sulfotransferase activity Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs and xenobiotic compounds. Sulfonation increases the water solubility of most compounds, and therefore their renal excretion, but it can also result in bioactivation to form active metabolites. Sulfates hydroxysteroids like DHEA. Isoform 1 preferentially sulfonates cholesterol, and isoform 2 avidly sulfonates pregnenolone but not cholesterol. 1Q1Q;1Q1Z;1Q20;1Q22 NM_177973.1 31563386 SULT2B1 19 19q13.3 SULT2B1 HGNC:11459 true hsa:6820 NP_004596.2:NM_004605.2;NP_814444.1:NM_177973.1 Expressed highly in placenta, prostate and trachea and lower expression in the small intestine and lung. 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 350 CDBP00349 Sulfotransferase 1A3/1A4 P50224 ST1A3_HUMAN true false Enzyme Homo_sapiens SULT1A3 295 34195.96 6.007 Involved in sulfotransferase activity Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of phenolic monoamines (neurotransmitters such as dopamine, norepinephrine and serotonin) and phenolic and catechol drugs. 1CJM;2A3R L19956 SULT1A3 16 16p11.2 SULT1A3 HGNC:30004 true hsa:6818 HS05608-MONOMER NP_001017390.1:NM_001017390.2;NP_808220.1:NM_177552.3;XP_003960686.1:XM_003960637.1;XP_003960687.1:XM_003960638.1 Liver, colon, kidney, lung, brain, spleen, small intestine, placenta and leukocyte. Homodimer 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 351 CDBP00350 Uroporphyrinogen-III synthase P10746 HEM4_HUMAN true false Enzyme Homo_sapiens UROS 265 28627.37 5.471 Involved in uroporphyrinogen-III synthase activity Catalyzes cyclization of the linear tetrapyrrole, hydroxymethylbilane, to the macrocyclic uroporphyrinogen III, the branch point for the various sub-pathways leading to the wide diversity of porphyrins. Porphyrins act as cofactors for a multitude of enzymes that perform a variety of processes within the cell such as methionine synthesis (vitamin B12) or oxygen transport (heme). 1JR2 J03824 337463 UROS 10 10q25.2-q26.3 UROS HGNC:12592 true hsa:7390 NP_000366.1:NM_000375.2 Ubiquitous. Monomer 2020-06-12T23:06:49Z 2020-07-28T02:25:14Z 0 0 0 352 CDBP00351 Porphobilinogen deaminase P08397 HEM3_HUMAN true false Enzyme Homo_sapiens HMBS 361 39329.74 7.174 Involved in hydroxymethylbilane synthase activity Tetrapolymerization of the monopyrrole PBG into the hydroxymethylbilane pre-uroporphyrinogen in several discrete steps. 3ECR;3EQ1 AK290275 158261573 HMBS 11 11q23.3 HMBS HGNC:4982 true hsa:3145 NP_000181.2:NM_000190.3;NP_001019553.1:NM_001024382.1 Isoform 1 is ubiquitously expressed. Isoform 2 is found only in erythroid cells. dipyrromethane group covalently 2020-06-12T23:06:49Z 2020-07-28T02:25:14Z 0 0 0 353 CDBP00352 Carbamoyl-phosphate synthase [ammonia], mitochondrial P31327 CPSM_HUMAN true false Enzyme Homo_sapiens CPS1 1500 165649.075 6.79 Involved in catalytic activity Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell. 2YVQ AF154830 5020420 CPS1 2 2q35 CPS1 HGNC:2323 true hsa:1373 HS00415-MONOMER NP_001116105.1:NM_001122633.2;NP_001116106.1:NM_001122634.2;NP_001866.2:NM_001875.4 Primarily in the liver and small intestine. 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 354 CDBP00353 Aldo-keto reductase family 1 member C3 P42330 AK1C3_HUMAN true false Enzyme Homo_sapiens AKR1C3 323 36866.91 7.948 Involved in oxidoreductase activity Catalyzes the conversion of aldehydes and ketones to alcohols. Catalyzes the reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ) and the oxidation of 9-alpha,11-beta-PGF2 to PGD2. Functions as a bi-directional 3-alpha-, 17-beta- and 20-alpha HSD. Can interconvert active androgens, estrogens and progestins with their cognate inactive metabolites. Preferentially transforms androstenedione (4-dione) to testosterone. 1RY0;1RY8;1S1P;1S1R;1S2A;1S2C;1XF0;1ZQ5;2F38;2FGB;3R43;3R58;3R6I;3R7M;3R8G;3R8H;3R94;3UFY;3UG8;3UGR;3UWE;4DBS;4DBU;4FA3;4FAL;4FAM AB018580 6624211 AKR1C3 10 10p15-p14 AKR1C3 HGNC:386 true hsa:8644 NP_001240837.1:NM_001253908.1;NP_003730.4:NM_003739.5 Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. 2020-06-12T23:06:49Z 2020-07-28T02:25:14Z 1 0 0 355 CDBP00354 Type I inositol 1,4,5-trisphosphate 5-phosphatase Q14642 I5P1_HUMAN true false Enzyme Homo_sapiens INPP5A 412 47819.155 7.04 Involved in inositol or phosphatidylinositol phosphatase activity Major isoenzyme hydrolyzing the calcium-mobilizing second messenger Ins(1,4,5)P3, this is a signal-terminating reaction. AL356603 57209040 INPP5A 10 10q26.3 INPP5A HGNC:6076 true hsa:3632 HS00936-MONOMER NP_005530.3:NM_005539.3 Brain; high level in Purkinje cells. 2020-06-12T23:06:49Z 2020-07-28T02:25:14Z 0 0 0 356 CDBP00355 Inositol polyphosphate 1-phosphatase P49441 INPP_HUMAN true false Enzyme Homo_sapiens INPP1 399 43997.62 5.258 Involved in inositol or phosphatidylinositol phosphatase activity L08488 INPP1 2 2q32 INPP1 HGNC:6071 true hsa:3628 HS07761-MONOMER NP_001122400.1:NM_001128928.1;NP_002185.1:NM_002194.3 Ubiquitously expressed, with highest levels in pancreas and kidney. Magnesium Monomer 2020-06-12T23:06:49Z 2020-07-28T02:25:14Z 0 1 0 357 CDBP00356 Phosphatidylinositol 4,5-bisphosphate 5-phosphatase A Q15735 PI5PA_HUMAN true false Enzyme Homo_sapiens INPP5J 1006 70238.575 8.673 Involved in inositol or phosphatidylinositol phosphatase activity Inositol 5-phosphatase, which converts inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate. Also converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate and inositol 1,3,4,5-tetrakisphosphate to inositol 1,3,4-trisphosphate in vitro. May be involved in modulation of the function of inositol and phosphatidylinositol polyphosphate-binding proteins that are present at membranes ruffles (By similarity). 50726960 INPP5J 22 22q12.2 INPP5J HGNC:8956 true hsa:27124 HS11950-MONOMER NP_001002837.1:NM_001002837.1 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 358 CDBP00357 Inositol polyphosphate 5-phosphatase K Q9BT40 INP5K_HUMAN true false Enzyme Homo_sapiens INPP5K 448 42783.425 6.463 Involved in inositol or phosphatidylinositol phosphatase activity Inositol 5-phosphatase which acts on inositol 1,4,5-trisphosphate, inositol 1,3,4,5-tetrakisphosphate, phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Has 6-fold higher affinity for phosphatidylinositol 4,5-bisphosphate than for inositol 1,4,5-trisphosphate. May negatively regulate assembly of the actin cytoskeleton. AB036829 7209855 INPP5K 17 17p13.3 INPP5K HGNC:33882 true hsa:51763 HS05626-MONOMER NP_001129114.1:NM_001135642.1;NP_057616.2:NM_016532.3;NP_570122.1:NM_130766.2 Ubiquitously expressed with highest levels in skeletal muscle, heart and kidney. 2020-06-12T23:06:49Z 2020-07-28T02:25:15Z 1 0 1 359 CDBP00358 Lactase-phlorizin hydrolase P09848 LPH_HUMAN true false Enzyme Homo_sapiens LCT 1927 218584.77 6.344 Involved in hydrolase activity, hydrolyzing O-glycosyl compounds LPH splits lactose in the small intestine. X07994 34400 LCT 2 2q21 LCT HGNC:6530 true hsa:3938 HS03945-MONOMER NP_002290.2:NM_002299.2 Intestine. 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 360 CDBP00359 Neutral alpha-glucosidase AB Q14697 GANAB_HUMAN true false Enzyme Homo_sapiens GANAB 944 Involved in catalytic activity Cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins. NM_198334.1 38202257 GANAB GANAB HGNC:4138 true hsa:23193 NP_938148.1:NM_198334.1;NP_938149.2:NM_198335.2 Detected in placenta. Heterodimer of a catalytic alpha subunit (GANAB) and a beta subunit (PRKCSH). Binds glycosylated PTPRC 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 361 CDBP00360 Glycogen debranching enzyme P35573 GDE_HUMAN true false Enzyme Homo_sapiens AGL 1532 Involved in catalytic activity Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase and amylo-1,6-glucosidase in glycogen degradation. AB035443 6580116 AGL AGL HGNC:321 true hsa:178 NP_000019.2:NM_000028.2;NP_000633.2:NM_000642.2;NP_000634.2:NM_000643.2;NP_000635.2:NM_000644.2;NP_000636.2:NM_000645.2;NP_000637.2:NM_000646.2 Liver, kidney and lymphoblastoid cells express predominantly isoform 1; whereas muscle and heart express not only isoform 1, but also muscle-specific isoform mRNAs (isoforms 2, 3 and 4). Isoforms 5 and 6 are present in both liver and muscle. Monomer. Interacts with NHLRC1/malin 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 362 CDBP00361 ADP-dependent glucokinase Q9BRR6 ADPGK_HUMAN true false Enzyme Homo_sapiens ADPGK 497 53960.185 6.207 Involved in phosphotransferase activity, alcohol group as acceptor Catalyzes the phosphorylation of D-glucose to D-glucose 6-phosphate using ADP as the phosphate donor. GDP and CDP can replace ADP, but with reduced efficiency (By similarity). BC006112 13543940 ADPGK 15 15q24.1 ADPGK HGNC:25250 true hsa:83440 NP_112574.3:NM_031284.4 magnesium ion Monomer 2020-06-12T23:06:49Z 2020-07-28T02:25:15Z 0 1 0 363 CDBP00362 Glycogen phosphorylase, liver form P06737 PYGL_HUMAN true false Enzyme Homo_sapiens PYGL 847 93133.25 7.303 Involved in phosphorylase activity Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties. 1EM6;1EXV;1FA9;1FC0;1L5Q;1L5R;1L5S;1L7X;1XOI;2ATI;2QLL;2ZB2;3CEH;3CEJ;3CEM;3DD1;3DDS;3DDW M14636 183353 PYGL 14 14q21-q22 PYGL HGNC:9725 true hsa:5836 NP_001157412.1:NM_001163940.1;NP_002854.3:NM_002863.4 Pyridoxal phosphate Homodimer. Dimers associate into a tetramer to form the enzymatically active phosphorylase A. Interacts with PPP1R3B 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 364 CDBP00363 Beta-1,4-galactosyltransferase 2 O60909 B4GT2_HUMAN true false Enzyme Homo_sapiens B4GALT2 372 41971.815 9.376 Involved in transferase activity, transferring glycosyl groups Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids. Can produce lactose. AB024434 4520136 B4GALT2 1 1p34-p33 B4GALT2 HGNC:925 true hsa:8704 NP_001005417.1:NM_001005417.2;NP_003771.1:NM_003780.4;NP_085076.2:NM_030587.2 Weakly expressed in various tissues. Highest expression in prostate, testis, ovary, intestine, muscle, and in fetal brain. Manganese 2020-06-12T23:06:49Z 2020-07-28T02:25:15Z 0 1 0 365 CDBP00364 Alpha-lactalbumin P00709 LALBA_HUMAN true false Enzyme Homo_sapiens LALBA 142 Involved in lactose synthase activity Regulatory subunit of lactose synthase, changes the substrate specificity of galactosyltransferase in the mammary gland making glucose a good acceptor substrate for this enzyme. This enables LS to synthesize lactose, the major carbohydrate component of milk. In other tissues, galactosyltransferase transfers galactose onto the N-acetylglucosamine of the oligosaccharide chains in glycoproteins. 1A4V;1B9O;1CB3;1HML;3B0I;3B0O J00270 307104 LALBA LALBA HGNC:6480 true hsa:3906 NP_002280.1:NM_002289.2 Mammary gland specific. Secreted in milk. Lactose synthase (LS) is a heterodimer of a catalytic component, beta1,4-galactosyltransferase (beta4Gal-T1) and a regulatory component, alpha-lactalbumin (LA) 2020-06-12T23:06:49Z 2020-07-28T02:25:16Z 0 1 0 366 CDBP00365 Glycogen phosphorylase, muscle form P11217 PYGM_HUMAN true false Enzyme Homo_sapiens PYGM 842 87316.355 8.414 Involved in phosphorylase activity Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties. 1Z8D AF066859 3153910 PYGM 11 11q12-q13.2 PYGM HGNC:9726 true hsa:5837 NP_001158188.1:NM_001164716.1;NP_005600.1:NM_005609.2 Pyridoxal phosphate Homodimer. Dimers associate into a tetramer to form the enzymatically active phosphorylase A 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 367 CDBP00366 Trehalase O43280 TREA_HUMAN true false Enzyme Homo_sapiens TREH 583 66567.26 5.678 Involved in catalytic activity Intestinal trehalase is probably involved in the hydrolysis of ingested trehalose. AB000824 2789461 TREH 11 11q23.3 TREH HGNC:12266 true hsa:11181 NP_009111.2:NM_007180.2 Homodimer; disulfide-linked 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 368 CDBP00367 Glycogen phosphorylase, brain form P11216 PYGB_HUMAN true false Enzyme Homo_sapiens PYGB 843 96695.18 6.859 Involved in phosphorylase activity Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties. AL121772 9650807 PYGB 20 20p11.21 PYGB HGNC:9723 true hsa:5834 NP_002853.2:NM_002862.3 Pyridoxal phosphate Homodimer. Dimers associate into a tetramer to form the enzymatically active phosphorylase A 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 369 CDBP00368 Glucose-6-phosphatase P35575 G6PC_HUMAN true false Enzyme Homo_sapiens G6PC 357 40483.21 8.476 Involved in catalytic activity Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. Forms with the glucose-6-phosphate transporter (SLC37A4/G6PT) the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it is the key enzyme in homeostatic regulation of blood glucose levels. AK313982 189054175 G6PC 17 17q21 G6PC HGNC:4056 true hsa:2538 HS05538-MONOMER NP_000142.2:NM_000151.3;NP_001257326.1:NM_001270397.1 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 370 CDBP00369 Beta-1,4-galactosyltransferase 1 P15291 B4GT1_HUMAN true false Enzyme Homo_sapiens B4GALT1 398 43919.895 8.642 Involved in transferase activity, transferring glycosyl groups The Golgi complex form catalyzes the production of lactose in the lactating mammary gland and could also be responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids. The cell surface form functions as a recognition molecule during a variety of cell to cell and cell to matrix interactions, as those occurring during development and egg fertilization, by binding to specific oligosaccharide ligands on opposing cells or in the extracellular matrix. 2AE7;2AEC;2AES;2AGD;2AH9;2FY7;2FYA;2FYB;3EE5;4EE3;4EE4;4EE5;4EEA;4EEG;4EEM;4EEO AK312797 189053491 B4GALT1 9 9p13 B4GALT1 HGNC:924 true hsa:2683 NP_001488.2:NM_001497.3 Ubiquitously expressed, but at very low levels in fetal and adult brain. Manganese Homodimer; and heterodimer with alpha-lactabulmin to form lactose synthase 2020-06-12T23:06:49Z 2020-07-28T02:25:16Z 0 1 0 371 CDBP00370 Kynurenine/alpha-aminoadipate aminotransferase, mitochondrial Q8N5Z0 AADAT_HUMAN true false Enzyme Homo_sapiens AADAT 425 47351.17 6.954 Involved in transferase activity, transferring nitrogenous groups Transaminase with broad substrate specificity. Has transaminase activity towards aminoadipate, kynurenine, methionine and glutamate. Shows activity also towards tryptophan, aspartate and hydroxykynurenine. Accepts a variety of oxo-acids as amino-group acceptors, with a preference for 2-oxoglutarate, 2-oxocaproic acid, phenylpyruvate and alpha-oxo-gamma-methiol butyric acid. Can also use glyoxylate as amino-group acceptor (in vitro). 2QLR;2R2N;2VGZ;2XH1;3DC1;3UE8;4GDY;4GE4;4GE7;4GE9 AF097994 AADAT 4 4q33 AADAT HGNC:17929 true hsa:51166 HS03239-MONOMER NP_057312.1:NM_016228.3;NP_872603.1:NM_182662.1 Higher expression in the liver. Also found in heart, brain, kidney, pancreas, prostate, testis and ovary. Pyridoxal phosphate Homodimer 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 372 CDBP00371 3-hydroxyacyl-CoA dehydrogenase type-2 Q99714 HCD2_HUMAN true false Enzyme Homo_sapiens HSD17B10 261 25983.695 7.211 Involved in oxidoreductase activity Functions in mitochondrial tRNA maturation. Part of mitochondrial ribonuclease P, an enzyme composed of MRPP1/TRMT10C, MRPP2/HSD17B10 and MRPP3/KIAA0391, which cleaves tRNA molecules in their 5'-ends. By interacting with intracellular amyloid-beta, it may contribute to the neuronal dysfunction associated with Alzheimer disease (AD). 1F67;1SO8;1U7T;2O23 U96132 57210025 HSD17B10 X Xp11.2 HSD17B10 HGNC:4800 true hsa:3028 HS01071-MONOMER NP_001032900.1:NM_001037811.2;NP_004484.1:NM_004493.2 Expressed in normal tissues but is overexpressed in neurons affected in AD. Homotetramer . Interacts with MRPP1/TRMT10C and MRPP3/KIAA0391 2020-06-12T23:06:49Z 2020-07-28T02:25:16Z 0 0 0 373 CDBP00372 Peroxisomal bifunctional enzyme Q08426 ECHP_HUMAN false false Enzyme Homo_sapiens EHHADH 723 69153.26 9.057 Involved in oxidoreductase activity L07077 452045 EHHADH 3 3q26.3-q28 EHHADH HGNC:3247 true hsa:1962 NP_001159887.1:NM_001166415.1;NP_001957.2:NM_001966.3 Liver and kidney. Lower amounts seen in the brain. Monomer 2020-06-12T23:06:49Z 2020-07-28T02:33:15Z 0 0 0 374 CDBP00373 Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial Q16836 HCDH_HUMAN true false Enzyme Homo_sapiens HADH 314 36035.11 8.535 Involved in 3-hydroxyacyl-CoA dehydrogenase activity Plays an essential role in the mitochondrial beta-oxidation of short chain fatty acids. Exerts it highest activity toward 3-hydroxybutyryl-CoA. 1F0Y;1F12;1F14;1F17;1IL0;1LSJ;1LSO;1M75;1M76;2HDH;3HAD;3RQS X96752 1483511 HADH 4 4q22-q26 HADH HGNC:4799 true hsa:3033 NP_001171634.2:NM_001184705.2;NP_005318.3:NM_005327.4 Expressed in liver, kidney, pancreas, heart and skeletal muscle. Homodimer 2020-06-12T23:06:49Z 2020-07-28T02:25:16Z 0 0 0 375 CDBP00374 Gamma-butyrobetaine dioxygenase O75936 BODG_HUMAN true false Enzyme Homo_sapiens BBOX1 387 44714.6 6.744 Involved in iron ion binding Catalyzes the formation of L-carnitine from gamma-butyrobetaine. 3MS5;3N6W;3O2G AF082868 BBOX1 11 11p14.2 BBOX1 HGNC:964 true hsa:8424 NP_003977.1:NM_003986.2 Highly expressed in kidney; moderately expressed in liver; very low expression in brain. Fe(2+) ion;Ascorbate 2020-06-12T23:06:49Z 2020-07-28T02:25:16Z 0 1 0 376 CDBP00375 Alpha-1,3/1,6-mannosyltransferase ALG2 Q9H553 ALG2_HUMAN true false Enzyme Homo_sapiens ALG2 416 47091.075 7.047 Involved in biosynthetic process Mannosylates Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. AB161356 44885912 ALG2 9 9q22.33 ALG2 HGNC:23159 true hsa:85365 NP_149078.1:NM_033087.3 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 377 CDBP00376 Dolichol-phosphate mannosyltransferase O60762 DPM1_HUMAN true false Enzyme Homo_sapiens DPM1 260 29633.995 9.563 Cell wall/membrane/envelope biogenesis Transfers mannose from GDP-mannose to dolichol monophosphate to form dolichol phosphate mannose (Dol-P-Man) which is the mannosyl donor in pathways leading to N-glycosylation, glycosyl phosphatidylinositol membrane anchoring, and O-mannosylation of proteins. NM_003859.1 4503363 DPM1 20 20q13.13 DPM1 HGNC:3005 true hsa:8813 NP_003850.1:NM_003859.1 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 378 CDBP00377 GDP-mannose 4,6 dehydratase O60547 GMDS_HUMAN true false Enzyme Homo_sapiens GMDS 372 39053.295 7.081 Involved in catalytic activity Conversion of GDP-D-mannose to GDP-4-keto-6-D-deoxymannose. 1T2A AF042377 GMDS 6 6p25 GMDS HGNC:4369 true hsa:2762 NP_001240775.1:NM_001253846.1;NP_001491.1:NM_001500.3 NADP 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 379 CDBP00378 Aldo-keto reductase family 1 member C1 Q04828 AK1C1_HUMAN true false Enzyme Homo_sapiens AKR1C1 323 36788.02 7.891 Involved in oxidoreductase activity Converts progesterone to its inactive form, 20-alpha-dihydroxyprogesterone (20-alpha-OHP). In the liver and intestine, may have a role in the transport of bile. May have a role in monitoring the intrahepatic bile acid concentration. Has a low bile-binding ability. May play a role in myelin formation. 1MRQ;3C3U;3GUG;3NTY M86609 AKR1C1 10 10p15-p14 AKR1C1 HGNC:384 true hsa:1645 NP_001344.2:NM_001353.5 Expressed in all tissues tested including liver, prostate, testis, adrenal gland, brain, uterus, mammary gland and keratinocytes. Highest levels found in liver, mammary gland and brain. Monomer 2020-06-12T23:06:49Z 2020-07-28T02:25:17Z 0 0 0 380 CDBP00379 Aldo-keto reductase family 1 member C2 P52895 AK1C2_HUMAN true false Enzyme Homo_sapiens AKR1C2 323 15747.91 8.148 Involved in oxidoreductase activity Works in concert with the 5-alpha/5-beta-steroid reductases to convert steroid hormones into the 3-alpha/5-alpha and 3-alpha/5-beta-tetrahydrosteroids. Catalyzes the inactivation of the most potent androgen 5-alpha-dihydrotestosterone (5-alpha-DHT) to 5-alpha-androstane-3-alpha,17-beta-diol (3-alpha-diol). Has a high bile-binding ability. 1IHI;1J96;1XJB;2HDJ;2IPJ AB021654 4062863 AKR1C2 10 10p15-p14 AKR1C2 HGNC:385 true hsa:1646 HS07754-MONOMER NP_001128713.1:NM_001135241.2;NP_001345.1:NM_001354.5;NP_995317.1:NM_205845.2 Expressed in fetal testes. Expressed in fetal and adult adrenal glands. 2020-06-12T23:06:49Z 2020-07-28T02:25:17Z 1 0 0 381 CDBP00380 Enoyl-CoA hydratase, mitochondrial P30084 ECHM_HUMAN true false Enzyme Homo_sapiens ECHS1 290 31387.085 8.073 Involved in catalytic activity Straight-chain enoyl-CoA thioesters from C4 up to at least C16 are processed, although with decreasing catalytic rate. 2HW5 AL360181 55664849 ECHS1 10 10q26.2-q26.3 ECHS1 HGNC:3151 true hsa:1892 NP_004083.3:NM_004092.3 Liver, fibroblast, muscle. Barely detectable in spleen and kidney. Homohexamer; dimer of trimers 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 382 CDBP00381 Trifunctional enzyme subunit alpha, mitochondrial P40939 ECHA_HUMAN false false Enzyme Homo_sapiens HADHA 763 82998.97 9.048 Involved in oxidoreductase activity Bifunctional subunit. AK313027 189053609 HADHA 2 2p23 HADHA HGNC:4801 true hsa:3030 NP_000173.2:NM_000182.4 Octamer of 4 alpha (HADHA) and 4 beta (HADHB) subunits 2020-06-12T23:06:49Z 2020-07-28T02:33:15Z 0 0 0 383 CDBP00382 Amiloride-sensitive amine oxidase [copper-containing] P19801 ABP1_HUMAN true false Enzyme Homo_sapiens ABP1 751 85377.1 7.095 Involved in copper ion binding Catalyzes the degradation of compounds such as putrescine, histamine, spermine, and spermidine, substances involved in allergic and immune responses, cell proliferation, tissue differentiation, tumor formation, and possibly apoptosis. Placental DAO is thought to play a role in the regulation of the female reproductive function. 3HI7;3HIG;3HII;3K5T;3MPH NM_001091.2 73486661 ABP1 7 7q36.1 ABP1 HGNC:80 true hsa:26 NP_001082.2:NM_001091.3 Placenta and kidney. copper ion;calcium ions;Contains 1 topaquinone Homodimer; disulfide-linked 2020-06-12T23:06:49Z 2020-07-28T02:25:17Z 1 1 0 384 CDBP00383 Glyoxylate reductase/hydroxypyruvate reductase Q9UBQ7 GRHPR_HUMAN true false Enzyme Homo_sapiens GRHPR 328 35667.875 7.382 Involved in oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor Enzyme with hydroxy-pyruvate reductase, glyoxylate reductase and D-glycerate dehydrogenase enzymatic activities. Reduces hydroxypyruvate to D-glycerate, glyoxylate to glycolate oxidizes D-glycerate to hydroxypyruvate. 2GCG;2H1S;2Q50;2WWR AF134895 6002730 GRHPR 9 9q12 GRHPR HGNC:4570 true hsa:9380 NP_036335.1:NM_012203.1 Ubiquitous. Most abundantly expressed in the liver. Homodimer 2020-06-12T23:06:49Z 2020-07-28T02:25:17Z 0 0 0 385 CDBP00384 Lactoylglutathione lyase Q04760 LGUL_HUMAN true false Enzyme Homo_sapiens GLO1 184 20777.515 5.309 Involved in lactoylglutathione lyase activity Catalyzes the conversion of hemimercaptal, formed from methylglyoxal and glutathione, to S-lactoylglutathione. Involved in the regulation of TNF-induced transcriptional activity of NF-kappa-B. 1BH5;1FRO;1QIN;1QIP;3VW9 AF146651 5020074 GLO1 6 6p21.3-p21.1 GLO1 HGNC:4323 true hsa:2739 NP_006699.2:NM_006708.2 zinc ion Homodimer 2020-06-12T23:06:49Z 2020-07-28T02:25:17Z 0 1 1 386 CDBP00385 Membrane primary amine oxidase Q16853 AOC3_HUMAN true false Enzyme Homo_sapiens AOC3 763 84621.27 6.523 Involved in copper ion binding Cell adhesion protein that participates in lymphocyte recirculation by mediating the binding of lymphocytes to peripheral lymph node vascular endothelial cells in an L-selectin-independent fashion. Has a monoamine oxidase activity. May play a role in adipogenesis. 1PU4;1US1;2C10;2C11;2Y73;2Y74;3ALA U39447 AOC3 17 17q21 AOC3 HGNC:550 true hsa:8639 NP_003725.1:NM_003734.2 Strongly expressed on the high endothelial venules of peripheral lymph nodes and on hepatic endothelia. Also highly expressed in appendix, lung and small intestine. Expressed also in adipose tissue, in bone marrow, colon, heart, kidney, ovary, pancreas, placenta, prostate, skeletal muscle, spleen and testis. copper ion;calcium ions;Contains 1 topaquinone Homodimer; disulfide-linked. Forms a heterodimer with AOC2 2020-06-12T23:06:49Z 2020-07-28T02:25:17Z 0 1 0 387 CDBP00386 Retina-specific copper amine oxidase O75106 AOC2_HUMAN true false Enzyme Homo_sapiens AOC2 756 80515.11 6.999 Involved in copper ion binding Has a monoamine oxidase activity with substrate specificity for 2-phenylethylamine and tryptamine. May play a role in adipogenesis. May be a critical modulator of signal transmission in retina. AB012943 3510335 AOC2 17 17q21 AOC2 HGNC:549 true hsa:314 NP_001149.2:NM_001158.3;NP_033720.2:NM_009590.2 Expressed in many tissues with much higher expression in retina. Isoform 1 and isoform 2 are expressed in adipose tissue, whereas isoform 1 only seems to be present in thymus, and isoform 2 only in testis. copper ion;calcium ions;Contains 1 topaquinone Forms a heterodimer with AOC3, in vitro 2020-06-12T23:06:49Z 2020-07-28T02:25:18Z 0 1 0 388 CDBP00387 3-hydroxyisobutyrate dehydrogenase, mitochondrial P31937 3HIDH_HUMAN true false Enzyme Homo_sapiens HIBADH 336 35328.515 8.129 Involved in 3-hydroxyisobutyrate dehydrogenase activity 2GF2;2I9P BC032324 21619591 HIBADH 7 7p15.2 HIBADH HGNC:4907 true hsa:11112 NP_689953.1:NM_152740.3 Homodimer 2020-06-12T23:06:49Z 2020-07-28T02:25:18Z 0 0 0 389 CDBP00388 Alanine--glyoxylate aminotransferase 2, mitochondrial Q9BYV1 AGT2_HUMAN true false Enzyme Homo_sapiens AGXT2 514 57155.905 7.864 Involved in transaminase activity Can metabolize asymmetric dimethylarginine (ADMA) via transamination to alpha-keto-delta-(NN-dimethylguanidino) valeric acid (DMGV). ADMA is a potent inhibitor of nitric-oxide (NO) synthase, and this activity provides mechanism through which the kidney regulates blood pressure. AJ292204 12406973 AGXT2 5 5p13 AGXT2 HGNC:14412 true hsa:64902 NP_114106.1:NM_031900.3 Pyridoxal phosphate Homotetramer 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 390 CDBP00389 S-methyl-5'-thioadenosine phosphorylase Q13126 MTAP_HUMAN true false Enzyme Homo_sapiens MTAP 283 31235.76 7.188 Involved in transferase activity, transferring pentosyl groups Catalyzes the reversible phosphorylation of S-methyl-5'-thioadenosine (MTA) to adenine and 5-methylthioribose-1-phosphate. Involved in the breakdown of MTA, a major by-product of polyamine biosynthesis. Responsible for the first step in the methionine salvage pathway after MTA has been generated from S-adenosylmethionine. Has broad substrate specificity with 6-aminopurine nucleosides as preferred substrates. 1CB0;1CG6;1K27;1SD1;1SD2;3LN5;3OZC;3OZD;3OZE U22233 847724 MTAP 9 9p21 MTAP HGNC:7413 true hsa:4507 HS01913-MONOMER NP_002442.2:NM_002451.3 Ubiquitously expressed. Homotrimer 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 391 CDBP00390 Malonyl-CoA-acyl carrier protein transacylase, mitochondrial Q8IVS2 FABD_HUMAN true false Enzyme Homo_sapiens MCAT 390 19175.775 6.169 Involved in transferase activity Catalyzes the transfer of a malonyl moiety from malonyl-CoA to the free thiol group of the phosphopantetheine arm of the mitochondrial ACP protein (NDUFAB1). This suggests the existence of the biosynthesis of fatty acids in mitochondrias. 2C2N AL359401 8574364 MCAT 22 22q13.31 MCAT HGNC:29622 true hsa:27349 NP_055322.1:NM_014507.3;NP_775738.3:NM_173467.4 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 392 CDBP00391 N-acylneuraminate cytidylyltransferase Q8NFW8 NEUA_HUMAN true false Enzyme Homo_sapiens CMAS 434 48378.835 7.933 Involved in lipopolysaccharide biosynthetic process Catalyzes the activation of N-acetylneuraminic acid (NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid (CMP-NeuNAc), a substrate required for the addition of sialic acid. Has some activity toward NeuNAc, N-glycolylneuraminic acid (Neu5Gc) or 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN). AF271388 8515843 CMAS 12 12p12.1 CMAS HGNC:18290 true hsa:55907 NP_061156.1:NM_018686.4 Ubiquitously expressed. Expressed in pancreas, kidney, liver, skeletal muscle, lung, placenta, brain, heart, colon, PBL, small intestine, ovary, testis, prostate, thymus and spleen. Homotetramer; the active enzyme is formed by a dimer of dimers 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 393 CDBP00392 Ornithine aminotransferase, mitochondrial P04181 OAT_HUMAN true false Enzyme Homo_sapiens OAT 439 48534.39 7.041 Involved in transaminase activity 1GBN;1OAT;2BYJ;2BYL;2CAN;2OAT AK312561 189069120 OAT 10 10q26 OAT HGNC:8091 true hsa:4942 HS00832-MONOMER NP_000265.1:NM_000274.3;NP_001165285.1:NM_001171814.1 Pyridoxal phosphate Homotetramer 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 394 CDBP00393 Cytochrome P450 4A11 Q02928 CP4AB_HUMAN false false Metal Binding Homo_sapiens CYP4A11 519 59347.31 8.764 Involved in monooxygenase activity Catalyzes the omega- and (omega-1)-hydroxylation of various fatty acids such as laurate, myristate and palmitate. Has little activity toward prostaglandins A1 and E1. Oxidizes arachidonic acid to 20-hydroxyeicosatetraenoic acid (20-HETE). L04751 CYP4A11 1 1p33 CYP4A11 HGNC:2642 true hsa:1579 NP_000769.2:NM_000778.3 Kidney and liver. Heme group 2020-06-12T23:06:49Z 2020-07-28T02:31:56Z 0 1 0 395 CDBP00394 Histone-lysine N-methyltransferase, H3 lysine-79 specific Q8TEK3 DOT1L_HUMAN true false Enzyme Homo_sapiens DOT1L 1739 164854.41 9.191 Involved in DNA binding Histone methyltransferase. Methylates 'Lys-79' of histone H3. Nucleosomes are preferred as substrate compared to free histones. Binds to DNA. 1NW3;3QOW;3QOX;3SR4;3SX0;3UWP;4EK9;4EKG;4EKI;4EQZ;4ER0;4ER3;4ER5;4ER6;4ER7 22094135 DOT1L 19 19p13.3 DOT1L HGNC:24948 true hsa:84444 NP_115871.1:NM_032482.2 Interacts with MLLT10 2020-06-12T23:06:49Z 2020-07-28T02:25:18Z 0 0 1 396 CDBP00395 Glycine N-methyltransferase Q14749 GNMT_HUMAN true false Enzyme Homo_sapiens GNMT 295 32742.0 7.023 Involved in folic acid binding Catalyzes the methylation of glycine by using S-adenosylmethionine (AdoMet) to form N-methylglycine (sarcosine) with the concomitant production of S-adenosylhomocysteine (AdoHcy). Possible crucial role in the regulation of tissue concentration of AdoMet and of metabolism of methionine. 1R74;2AZT AF101477 8671584 GNMT 6 6p12 GNMT HGNC:4415 true hsa:27232 NP_061833.1:NM_018960.4 Abundant in liver. Homotetramer 2020-06-12T23:06:49Z 2020-07-28T02:25:19Z 0 0 0 397 CDBP00396 Histone-lysine N-methyltransferase SETD7 Q8WTS6 SETD7_HUMAN true false Enzyme Homo_sapiens SETD7 366 40720.595 4.625 Involved in histone-lysine N-methyltransferase activity Histone methyltransferase that specifically monomethylates 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Plays a central role in the transcriptional activation of genes such as collagenase or insulin. Recruited by IPF1/PDX-1 to the insulin promoter, leading to activate transcription. Has also methyltransferase activity toward non-histone proteins such as p53/TP53, TAF10, and possibly TAF7 by recognizing and binding the [KR]-[STA]-K in substrate proteins. Monomethylates 'Lys-189' of TAF10, leading to increase the affinity of TAF10 for RNA polymerase II. Monomethylates 'Lys-372' of p53/TP53, stabilizing p53/TP53 and increasing p53/TP53-mediated transcriptional activation. 1H3I;1MT6;1MUF;1N6A;1N6C;1O9S;1XQH;2F69;3CBM;3CBO;3CBP;3M53;3M54;3M55;3M56;3M57;3M58;3M59;3M5A;3OS5;4E47 AF448510 SETD7 4 4q28 SETD7 HGNC:30412 true hsa:80854 NP_085151.1:NM_030648.2 Widely expressed. Expressed in pancreatic islets. Interacts with IPF1/PDX-1 2020-06-12T23:06:49Z 2020-07-28T02:25:19Z 0 0 1 398 CDBP00397 S-adenosylmethionine synthase isoform type-2 P31153 METK2_HUMAN true false Enzyme Homo_sapiens MAT2A 395 43660.37 6.48 Involved in methionine adenosyltransferase activity Catalyzes the formation of S-adenosylmethionine from methionine and ATP. 2P02 X68836 36327 MAT2A 2 2p11.2 MAT2A HGNC:6904 true hsa:4144 NP_005902.1:NM_005911.5 divalent ions . Magnesium or cobalt;potassium ion Heterotetramer composed of 2 catalytic alpha subunits (alpha and alpha') (MAT2A) and 1 copy of beta subunit (MAT2B) 2020-06-12T23:06:49Z 2020-07-28T02:25:19Z 0 1 0 399 CDBP00398 Phenylethanolamine N-methyltransferase P11086 PNMT_HUMAN true false Enzyme Homo_sapiens PNMT 282 30854.745 6.072 Involved in methyltransferase activity Converts noradrenaline to adrenaline. 1HNN;1N7I;1N7J;1YZ3;2AN3;2AN4;2AN5;2G70;2G71;2G72;2G8N;2OBF;2ONY;2ONZ;2OPB;3HCA;3HCB;3HCC;3HCD;3HCE;3HCF;3KPJ;3KPU;3KPV;3KPW;3KPY;3KQM;3KQO;3KQP;3KQQ;3KQS;3KQT;3KQV;3KQW;3KQY;3KR0;3KR1;3KR2;4DM3 J03727 PNMT 17 17q PNMT HGNC:9160 true hsa:5409 HS06868-MONOMER NP_002677.1:NM_002686.4 2020-06-12T23:06:49Z 2020-07-28T02:25:19Z 0 0 0 400 CDBP00399 Diphthine synthase Q9H2P9 DPH5_HUMAN true false Enzyme Homo_sapiens DPH5 285 31651.17 5.307 Involved in methyltransferase activity S-adenosyl-L-methionine-dependent methyltransferase that catalyzes the trimethylation of the amino group of the modified target histidine residue in translation elongation factor 2 (EF-2), to form an intermediate called diphthine. The three successive methylation reactions represent the second step of diphthamide biosynthesis (By similarity). NM_001077394.1 117190326 DPH5 1 1p21.2 DPH5 HGNC:24270 true hsa:51611 NP_001070862.1:NM_001077394.1;NP_001070863.1:NM_001077395.1;NP_057042.2:NM_015958.2 2020-06-12T23:06:49Z 2020-07-28T02:25:19Z 0 0 0 401 CDBP00400 Arsenite methyltransferase Q9HBK9 AS3MT_HUMAN true false Enzyme Homo_sapiens AS3MT 375 41747.49 6.204 Involved in methyltransferase activity Catalyzes the transfer of a methyl group from AdoMet to trivalent arsenicals producing methylated and dimethylated arsenicals. It methylates arsenite to form methylarsonate, Me-AsO(3)H(2), which is reduced by methylarsonate reductase to methylarsonite, Me-As(OH)2. Methylarsonite is also a substrate and it is converted into the much less toxic compound dimethylarsinate (cacodylate), Me(2)As(O)-OH (By similarity). NM_020682.3 109389364 AS3MT 10 10q24.32 AS3MT HGNC:17452 true hsa:57412 HS01822-MONOMER NP_065733.2:NM_020682.3 2020-06-12T23:06:49Z 2020-07-28T02:25:19Z 0 0 0 402 CDBP00401 Mitochondrial tRNA-specific 2-thiouridylase 1 O75648 MTU1_HUMAN true false Enzyme Homo_sapiens TRMU 421 47744.3 8.12 Involved in transferase activity Catalyzes the 2-thiolation of uridine at the wobble position (U34) of mitochondrial tRNA(Lys), tRNA(Glu) and tRNA(Gln). Required for the formation of 5-taurinomethyl-2- thiouridine (tm5s2U) of mitochondrial tRNA(Lys), tRNA(Glu), and tRNA(Gln) at the wobble position. ATP is required to activate the C2 atom of the wobble base ["None"] ["None"] AB178028 54633233 TRMU Chromosome:2 22q13 TRMU HGNC:25481 true 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 403 CDBP00402 Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific Q96L73 NSD1_HUMAN true false Enzyme Homo_sapiens NSD1 2696 296649.335 8.036 Involved in histone-lysine N-methyltransferase activity Histone methyltransferase. Preferentially methylates 'Lys-36' of histone H3 and 'Lys-20' of histone H4 (in vitro). Transcriptional intermediary factor capable of both negatively or positively influencing transcription, depending on the cellular context. 3OOI NM_022455.4 19923586 NSD1 5 5q35 NSD1 HGNC:14234 true hsa:64324 NP_071900.2:NM_022455.4;NP_758859.1:NM_172349.2 Expressed in the fetal/adult brain, kidney, skeletal muscle, spleen, and the thymus, and faintly in the lung. Interacts with the ligand-binding domains of RARA and THRA in the absence of ligand; in the presence of ligand the interaction is severely disrupted but some binding still occurs. Interacts with the ligand-binding domains of RXRA and ESRRA only in the presence of ligand. Interacts with ZNF496 . Interacts with AR DNA- and ligand-binding domains 2020-06-12T23:06:49Z 2020-07-28T02:25:19Z 1 1 1 404 CDBP00403 Histone-lysine N-methyltransferase SETDB1 Q15047 SETB1_HUMAN true false Enzyme Homo_sapiens SETDB1 1291 143155.6 6.028 Involved in DNA binding Histone methyltransferase that specifically trimethylates 'Lys-9' of histone H3. H3 'Lys-9' trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Mainly functions in euchromatin regions, thereby playing a central role in the silencing of euchromatic genes. H3 'Lys-9' trimethylation is coordinated with DNA methylation. Probably forms a complex with MBD1 and ATF7IP that represses transcription and couples DNA methylation and histone 'Lys-9' trimethylation. Its activity is dependent on MBD1 and is heritably maintained through DNA replication by being recruited by CAF-1. SETDB1 is targeted to histone H3 by TRIM28/TIF1B, a factor recruited by KRAB zinc-finger proteins. 3DLM AL590133 55960634 SETDB1 1 1q21 SETDB1 HGNC:10761 true hsa:9869 NP_001138887.1:NM_001145415.1;NP_001230420.1:NM_001243491.1;NP_036564.3:NM_012432.3 Widely expressed. High expression in testis. Interacts with MBD1; interaction is abolished when MBD1 is sumoylated. Interacts with ATF7IP and ATF7IP2; the interaction with ATF7IP is required to stimulate histone methyltransferase activity and facilitate the conversion of dimethylated to trimethylated H3 'Lys-9'. During DNA replication, it is recruited by SETDB1 to form a S phase-specific complex that facilitates methylation of H3 'Lys-9' during replication-coupled chromatin assembly and is at least composed of the CAF-1 subunit CHAF1A, MBD1 and SETDB1. Interacts with ERG, TRIM28/TIF1B, CBX1, CBX5, CHD7, DNMT3A, HDAC1, HDAC2, NLK, PPARG, SIN3A, SIN3B, DNMT3B and SUMO2. Interacts with MPHOSPH8 2020-06-12T23:06:49Z 2020-07-28T02:25:19Z 0 1 1 405 CDBP00404 Protein-L-isoaspartate(D-aspartate) O-methyltransferase P22061 PIMT_HUMAN true false Enzyme Homo_sapiens PCMT1 227 30357.695 6.725 Involved in protein-L-isoaspartate (D-aspartate) O-methyltransferase activity Catalyzes the methyl esterification of L-isoaspartyl and D-aspartyl residues in peptides and proteins that result from spontaneous decomposition of normal L-aspartyl and L-asparaginyl residues. It plays a role in the repair and/or degradation of damaged proteins. Acts on microtubule-associated protein 2, calreticulin, clathrin light chains a and b, Ubiquitin carboxyl-terminal hydrolase isozyme L1, phosphatidylethanolamine-binding protein 1, stathmin, beta-synuclein and alpha-synuclein (By similarity). 1I1N;1KR5 AK289724 158260471 PCMT1 6 6q24-q25 PCMT1 HGNC:8728 true hsa:5110 NP_001238978.1:NM_001252049.1;NP_001238982.1:NM_001252053.1 Monomer 2020-06-12T23:06:49Z 2020-07-28T02:25:19Z 0 0 0 406 CDBP00405 Protein-S-isoprenylcysteine O-methyltransferase O60725 ICMT_HUMAN true false Enzyme Homo_sapiens ICMT 284 31937.775 7.961 Involved in protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity Catalyzes the post-translational methylation of isoprenylated C-terminal cysteine residues. AF064084 3135669 ICMT 1 1p36.21 ICMT HGNC:5350 true hsa:23463 NP_036537.1:NM_012405.3 Ubiquitously expressed. Expressed at higher levels in the cerebellum and putamen than in other brain regions. Abundant expression seen in the Purkinje cells and pontine neurons. Divalent cations. Probably zinc 2020-06-12T23:06:49Z 2020-07-28T02:25:20Z 0 0 0 407 CDBP00406 Indolethylamine N-methyltransferase O95050 INMT_HUMAN true false Enzyme Homo_sapiens INMT 263 28833.695 5.27 Involved in methyltransferase activity Functions as thioether S-methyltransferase and is active with a variety of thioethers and the corresponding selenium and tellurium compounds, including 3-methylthiopropionaldehyde, dimethyl selenide, dimethyl telluride, 2-methylthioethylamine, 2-methylthioethanol, methyl-n-propyl sulfide and diethyl sulfide. Plays an important role in the detoxification of selenium compounds (By similarity). Catalyzes the N-methylation of tryptamine and structurally related compounds. 2A14 NM_006774.4 66933018 INMT 7 7p14.3 INMT HGNC:6069 true hsa:11185 HS00305-MONOMER NP_001186148.1:NM_001199219.1;NP_006765.4:NM_006774.4 Widely expressed. The highest levels were in thyroid, adrenal gland, adult and fetal lung. Intermediate levels in heart, placenta, skeletal muscle, testis, small intestine, pancreas, stomach, spinal cord, lymph node and trachea. Very low levels in adult and fetal kidney and liver, in adult spleen, thymus, ovary, colon and bone marrow. Not expressed in peripheral blood leukocytes and brain. Monomer 2020-06-12T23:06:49Z 2020-07-28T02:25:20Z 0 0 0 408 CDBP00407 DNA (cytosine-5)-methyltransferase 3A Q9Y6K1 DNM3A_HUMAN true false Enzyme Homo_sapiens DNMT3A 912 101857.595 6.564 Involved in DNA binding Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. It modifies DNA in a non-processive manner and also methylates non-CpG sites. May preferentially methylate DNA linker between 2 nucleosomal cores and is inhibited by histone H1. Plays a role in paternal and maternal imprinting. Required for methylation of most imprinted loci in germ cells. Acts as a transcriptional corepressor for ZNF238. Can actively repress transcription through the recruitment of HDAC activity (By similarity). 2QRV;3A1A;3A1B;3LLR;3SVM AF067972 12746532 DNMT3A 2 2p23 DNMT3A HGNC:2978 true hsa:1788 NP_072046.2:NM_022552.4;NP_715640.2:NM_153759.3;NP_783328.1:NM_175629.2;NP_783329.1:NM_175630.1 Highly expressed in fetal tissues, skeletal muscle, heart, peripheral blood mononuclear cells, kidney, and at lower levels in placenta, brain, liver, colon, spleen, small intestine and lung. Heterotetramer composed of 1 DNMT3A homodimer and 2 DNMT3L subunits (DNMT3L-DNMT3A-DNMT3A-DNMT3L). Interacts with UBC9, PIAS1 and PIAS2 . Binds the ZNF238 transcriptional repressor. Interacts with SETDB1. Associates with HDAC1 through its ADD domain. Interacts with UHRF1 (By similarity). Interacts with DNMT1 and DNMT3B. Interacts with the PRC2/EED-EZH2 complex. Interacts with MPHOSPH8. Interacts with histone H3 that is not methylated at 'Lys-4' (H3K4) 2020-06-12T23:06:49Z 2020-07-28T02:25:20Z 0 1 1 409 CDBP00408 Hexaprenyldihydroxybenzoate methyltransferase, mitochondrial Q9NZJ6 COQ3_HUMAN true false Enzyme Homo_sapiens COQ3 369 41053.76 7.422 Involved in methyltransferase activity NM_017421.3 118600965 COQ3 6 6q16.2 COQ3 HGNC:18175 true hsa:51805 HS05632-MONOMER NP_059117.3:NM_017421.3 2020-06-12T23:06:49Z 2020-07-28T02:25:20Z 0 0 0 410 CDBP00409 S-adenosylmethionine synthase isoform type-1 Q00266 METK1_HUMAN true false Enzyme Homo_sapiens MAT1A 395 43647.6 6.29 Involved in methionine adenosyltransferase activity Catalyzes the formation of S-adenosylmethionine from methionine and ATP. 2OBV AL359195 55959182 MAT1A 10 10q22 MAT1A HGNC:6903 true hsa:4143 NP_000420.1:NM_000429.2 Expressed in liver. divalent ions . Magnesium or cobalt;potassium ion Homotetramer (MAT-I) or homodimer (MAT-III) 2020-06-12T23:06:49Z 2020-07-28T02:25:20Z 0 1 0 411 CDBP00410 Histone-lysine N-methyltransferase EHMT2 Q96KQ7 EHMT2_HUMAN true false Enzyme Homo_sapiens EHMT2 1210 132369.205 5.456 Involved in zinc ion binding Histone methyltransferase that specifically mono- and dimethylates 'Lys-9' of histone H3 (H3K9me1 and H3K9me2, respectively) in euchromatin. H3K9me represents a specific tag for epigenetic transcriptional repression by recruiting HP1 proteins to methylated histones. Also mediates monomethylation of 'Lys-56' of histone H3 (H3K56me1) in G1 phase, leading to promote interaction between histone H3 and PCNA and regulating DNA replication. Also weakly methylates 'Lys-27' of histone H3 (H3K27me). Also required for DNA methylation, the histone methyltransferase activity is not required for DNA methylation, suggesting that these 2 activities function independently. Probably targeted to histone H3 by different DNA-binding proteins like E2F6, MGA, MAX and/or DP1. May also methylate histone H1. In addition to the histone methyltransferase activity, also methylates non-histone proteins: mediates dimethylation of 'Lys-373' of p53/TP53. Also methylates CDYL, WIZ, ACIN1, DNMT1, HDAC1, ERCC6, KLF12 and itself. 2O8J;3DM1;3K5K;3RJW AJ315532 15917538 EHMT2 6 6p21.31 EHMT2 HGNC:14129 true hsa:10919 NP_006700.3:NM_006709.3;NP_079532.5:NM_025256.5 Expressed in all tissues examined, with high levels in fetal liver, thymus, lymph node, spleen and peripheral blood leukocytes and lower level in bone marrow. Heterodimer; heterodimerizes with EHMT1/GLP. Interacts with GFI1B and WIZ. Part of the E2F6.com-1 complex in G0 phase composed of E2F6, MGA, MAX, TFDP1, CBX3, BAT8, EHMT1, RING1, RNF2, MBLR, L3MBTL2 and YAF2. Part of a complex composed of TRIM28, HDAC1, HDAC2 and EHMT2. Interacts with UHRF1 2020-06-12T23:06:49Z 2020-07-28T02:25:20Z 0 1 1 412 CDBP00411 S-adenosylmethionine decarboxylase proenzyme P17707 DCAM_HUMAN true false Enzyme Homo_sapiens AMD1 334 21301.015 5.073 Involved in adenosylmethionine decarboxylase activity 1I72;1I79;1I7B;1I7C;1I7M;1JEN;1JL0;1MSV;3DZ2;3DZ3;3DZ4;3DZ5;3DZ6;3DZ7;3EP3;3EP4;3EP5;3EP6;3EP7;3EP8;3EP9;3EPA;3EPB;3H0V;3H0W AL357515 55664717 AMD1 6 6q21 AMD1 HGNC:457 true hsa:262 NP_001028231.1:NM_001033059.1;NP_001625.2:NM_001634.4 Pyruvoyl group Heterotetramer of two alpha and two beta chains 2020-06-12T23:06:49Z 2020-07-28T02:25:20Z 0 0 0 413 CDBP00412 Methionine synthase reductase Q9UBK8 MTRR_HUMAN true false Enzyme Homo_sapiens MTRR 725 77672.995 6.498 Involved in oxidoreductase activity Involved in the reductive regeneration of cob(I)alamin cofactor required for the maintenance of methionine synthase in a functional state. 2QTL;2QTZ AF121214 6561339 MTRR 5 5p15.31 MTRR HGNC:7473 true hsa:4552 NP_002445.2:NM_002454.2;NP_076915.2:NM_024010.2 Found in all tissues tested, particularly abundant in skeletal muscle. FAD;FMN 2020-06-12T23:06:49Z 2020-07-28T02:25:20Z 0 1 0 414 CDBP00413 Histone-lysine N-methyltransferase SUV39H1 O43463 SUV91_HUMAN true false Enzyme Homo_sapiens SUV39H1 412 47907.065 8.024 Involved in chromatin binding Histone methyltransferase that specifically trimethylates 'Lys-9' of histone H3 using monomethylated H3 'Lys-9' as substrate. Also weakly methylates histone H1 (in vitro). H3 'Lys-9' trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Mainly functions in heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin at pericentric and telomere regions. H3 'Lys-9' trimethylation is also required to direct DNA methylation at pericentric repeats. SUV39H1 is targeted to histone H3 via its interaction with RB1 and is involved in many processes, such as repression of MYOD1-stimulated differentiation, regulation of the control switch for exiting the cell cycle and entering differentiation, repression by the PML-RARA fusion protein, BMP-induced repression, repression of switch recombination to IgA and regulation of telomere length. Component of the eNoSC (energy-dependent nucleolar silencing) complex, a complex that mediates silencing of rDNA in response to intracellular energy status and acts by recruiting histone-modifying enzymes. The eNoSC complex is able to sense the energy status of cell: upon glucose starvation, elevation of NAD(+)/NADP(+) ratio activates SIRT1, leading to histone H3 deacetylation followed by dimethylation of H3 at 'Lys-9' (H3K9me2) by SUV39H1 and the formation of silent chromatin in the rDNA locus. 3MTS AF019968 SUV39H1 X Xp11.23 SUV39H1 HGNC:11479 true hsa:6839 NP_003164.1:NM_003173.2 Interacts with H3 and H4 histones. Interacts with GFI1B, DNMT3B, CBX1, CBX4, KIAA1967/DBC1, MBD1, RUNX1, RUNX3, MYOD1, SMAD5 and RB1. Interacts with SBF1 through the SET domain. Interacts with HDAC1 and HDAC2 through the N-terminus and associates with the core histone deacetylase complex composed of HDAC1, HDAC2, RBBP4 and RBBP7. Component of the eNoSC complex, composed of SIRT1, SUV39H1 and RRP8. In case of infection, interacts with HTLV-1 Tax protein, leading to abrogate Tax transactivation of HTLV-1 LTR. Interacts (via SET domain) with MECOM; enhances MECOM transcriptional repression activity 2020-06-12T23:06:49Z 2020-07-28T02:25:21Z 0 1 1 415 CDBP00414 Nicotinamide N-methyltransferase P40261 NNMT_HUMAN true false Enzyme Homo_sapiens NNMT 264 29573.705 5.746 Involved in methyltransferase activity Catalyzes the N-methylation of nicotinamide and other pyridines to form pyridinium ions. This activity is important for biotransformation of many drugs and xenobiotic compounds. 2IIP;3ROD U08021 494989 NNMT 11 11q23.1 NNMT HGNC:7861 true hsa:4837 NP_006160.1:NM_006169.2 Predominantly expressed in the liver. A lower expression is seen in the kidney, lung, skeletal muscle, placenta and heart. Not detected in the brain or pancreas. Monomer 2020-06-12T23:06:49Z 2020-07-28T02:25:21Z 0 0 0 416 CDBP00415 Histone-lysine N-methyltransferase SUV39H2 Q9H5I1 SUV92_HUMAN true false Enzyme Homo_sapiens SUV39H2 410 46682.015 8.198 Involved in chromatin binding Histone methyltransferase that specifically trimethylates 'Lys-9' of histone H3 using monomethylated H3 'Lys-9' as substrate. H3 'Lys-9' trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Mainly functions in heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin at pericentric and telomere regions. H3 'Lys-9' trimethylation is also required to direct DNA methylation at pericentric repeats. SUV39H1 is targeted to histone H3 via its interaction with RB1 and is involved in many processes, such as cell cycle regulation, transcriptional repression and regulation of telomere length. May participate in regulation of higher-order chromatin organization during spermatogenesis. 2R3A NM_001193424.1 301171588 SUV39H2 10 10p13 SUV39H2 HGNC:17287 true hsa:79723 NP_001180353.1:NM_001193424.1;NP_001180354.1:NM_001193425.1;NP_001180355.1:NM_001193426.1;NP_001180356.1:NM_001193427.1;NP_078946.1:NM_024670.3 Interacts with SMAD5 2020-06-12T23:06:49Z 2020-07-28T02:25:21Z 0 1 1 417 CDBP00416 Histone-lysine N-methyltransferase EHMT1 Q9H9B1 EHMT1_HUMAN true false Enzyme Homo_sapiens EHMT1 1267 86702.845 6.301 Involved in zinc ion binding Histone methyltransferase that specifically mono- and dimethylates 'Lys-9' of histone H3 (H3K9me1 and H3K9me2, respectively) in euchromatin. H3K9me represents a specific tag for epigenetic transcriptional repression by recruiting HP1 proteins to methylated histones. Also weakly methylates 'Lys-27' of histone H3 (H3K27me). Also required for DNA methylation, the histone methyltransferase activity is not required for DNA methylation, suggesting that these 2 activities function independently. Probably targeted to histone H3 by different DNA-binding proteins like E2F6, MGA, MAX and/or DP1. During G0 phase, it probably contributes to silencing of MYC- and E2F-responsive genes, suggesting a role in G0/G1 transition in cell cycle. In addition to the histone methyltransferase activity, also methylates non-histone proteins: mediates dimethylation of 'Lys-373' of p53/TP53. 2IGQ;2RFI;3B7B;3B95;3FPD;3HNA;3MO0;3MO2;3MO5;3SW9;3SWC;4I51 NM_024757 224465233 EHMT1 9 9q34.3 EHMT1 HGNC:24650 true hsa:79813 NP_001138999.1:NM_001145527.1;NP_079033.4:NM_024757.4 Widely expressed. Heterodimer; heterodimerizes with EHMT2/G9a. Interacts with WIZ and EHMT2. Part of the E2F6.com-1 complex in G0 phase composed of E2F6, MGA, MAX, TFDP1, CBX3, BAT8, EHMT1, RING1, RNF2, MBLR, L3MBTL2 and YAF2. Interacts (via ANK repeats) with RELA (when monomethylated at 'Lys-310'). Interacts with MPHOSPH8 2020-06-12T23:06:49Z 2020-07-28T02:25:21Z 0 1 1 418 CDBP00417 Guanidinoacetate N-methyltransferase Q14353 GAMT_HUMAN true false Enzyme Homo_sapiens GAMT 236 26317.925 6.144 Involved in guanidinoacetate N-methyltransferase activity 3ORH AC005329 3342733 GAMT 19 19p13.3 GAMT HGNC:4136 true hsa:2593 NP_000147.1:NM_000156.5;NP_620279.1:NM_138924.2 Expressed in liver. Monomer 2020-06-12T23:06:49Z 2020-07-28T02:25:21Z 0 0 0 419 CDBP00418 Histamine N-methyltransferase P50135 HNMT_HUMAN true false Enzyme Homo_sapiens HNMT 292 6045.9 8.349 Involved in histamine N-methyltransferase activity Inactivates histamine by N-methylation. Plays an important role in degrading histamine and in regulating the airway response to histamine. 1ICZ;1JQD;1JQE;2AOT;2AOU;2AOV;2AOW;2AOX AC093674 62988825 HNMT 2 2q22.1 HNMT HGNC:5028 true hsa:3176 HS07674-MONOMER NP_001019245.1:NM_001024074.2;NP_001019246.1:NM_001024075.1;NP_008826.1:NM_006895.2 Monomer 2020-06-12T23:06:49Z 2020-07-28T02:25:21Z 0 0 0 420 CDBP00419 Thiopurine S-methyltransferase P51580 TPMT_HUMAN true false Enzyme Homo_sapiens TPMT 245 28180.09 6.23 Involved in thiopurine S-methyltransferase activity Catalyzes the S-methylation of thiopurine drugs such as 6-mercaptopurine. 2BZG;2H11 S62904 TPMT 6 6p22.3 TPMT HGNC:12014 true hsa:7172 NP_000358.1:NM_000367.2 Monomer 2020-06-12T23:06:49Z 2020-07-28T02:25:21Z 0 0 0 421 CDBP00420 N6-adenosine-methyltransferase 70 kDa subunit Q86U44 MTA70_HUMAN true false Enzyme Homo_sapiens METTL3 580 64473.345 6.42 Involved in methyltransferase activity N6-methyltransferase that methylates adenosine residues of some mRNAs. N6-methyladenosine (m6A), which is present at internal sites of some mRNAs, may play a role in the efficiency of mRNA splicing, transport or translation. NM_019852.3 21361827 METTL3 14 14q11.1 METTL3 HGNC:17563 true hsa:56339 NP_062826.2:NM_019852.3 Widely expressed at low level. Expressed in spleen, thymus, prostate, testis, ovary, small intestine, colon and peripheral blood leukocytes. 2020-06-12T23:06:49Z 2020-07-28T02:25:21Z 0 0 0 422 CDBP00421 Lanosterol synthase P48449 ERG7_HUMAN true false Enzyme Homo_sapiens LSS 732 83308.065 6.617 Involved in catalytic activity Catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol nucleus. 1W6J;1W6K U22526 LSS 21 21q22.3 LSS HGNC:6708 true hsa:4047 HS08480-MONOMER NP_001001438.1:NM_001001438.2;NP_001138908.1:NM_001145436.1;NP_001138909.1:NM_001145437.1;NP_002331.3:NM_002340.5 Monomer 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 423 CDBP00422 Inosine triphosphate pyrophosphatase Q9BY32 ITPA_HUMAN true false Enzyme Homo_sapiens ITPA 194 16833.23 7.174 Involved in hydrolase activity Pyrophosphatase that hydrolyzes the non-canonical purine nucleotides inosine triphosphate (ITP), deoxyinosine triphosphate (dITP) as well as 2'-deoxy-N-6-hydroxylaminopurine triposphate (dHAPTP) and xanthosine 5'-triphosphate (XTP) to their respective monophosphate derivatives. The enzyme does not distinguish between the deoxy- and ribose forms. Probably excludes non-canonical purines from RNA and DNA precursor pools, thus preventing their incorporation into RNA and DNA and avoiding chromosomal lesions. 2CAR;2I5D;2J4E AB062127 21104378 ITPA 20 20p ITPA HGNC:6176 true hsa:3704 NP_001254552.1:NM_001267623.1;NP_258412.1:NM_033453.3;NP_852470.1:NM_181493.2 Ubiquitous. Highly expressed in heart, liver, sex glands, thyroid and adrenal gland. magnesium ion Homodimer 2020-06-12T23:06:49Z 2020-07-28T02:25:22Z 0 1 0 424 CDBP00423 Deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial P33316 DUT_HUMAN true false Enzyme Homo_sapiens DUT 252 26562.975 9.368 Involved in hydrolase activity This enzyme is involved in nucleotide metabolism: it produces dUMP, the immediate precursor of thymidine nucleotides and it decreases the intracellular concentration of dUTP so that uracil cannot be incorporated into DNA. 1Q5H;1Q5U;2HQU;3ARA;3ARN;3EHW NM_001025248.1 70906441 DUT 15 15q21.1 DUT HGNC:3078 true hsa:1854 NP_001020419.1:NM_001025248.1;NP_001020420.1:NM_001025249.1;NP_001939.1:NM_001948.3 Found in a variety of tissues. Isoform 3 expression is constitutive, while isoform 2 expression correlates with the onset of DNA replication (at protein level). Isoform 2 degradation coincides with the cessation of nuclear DNA replication (at protein level). Magnesium Homotrimer 2020-06-12T23:06:49Z 2020-07-28T02:25:22Z 0 0 0 425 CDBP00424 Alpha-N-acetylgalactosaminidase P17050 NAGAB_HUMAN true false Enzyme Homo_sapiens NAGA 411 Involved in catalytic activity Removes terminal alpha-N-acetylgalactosamine residues from glycolipids and glycopeptides. Required for the breakdown of glycolipids. 3H53;3H54;3H55;3IGU;4DO4;4DO5;4DO6 M62783 178248 NAGA NAGA HGNC:7631 true hsa:4668 HS01993-MONOMER NP_000253.1:NM_000262.2 Homodimer 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 426 CDBP00425 Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 Q8N5D6 GBGT1_HUMAN true false Enzyme Homo_sapiens GBGT1 347 40126.9 8.63 Involved in transferase activity, transferring hexosyl groups Catalyzes the formation of some glycolipid via the addition of N-acetylgalactosamine (GalNAc) in alpha-1,3-linkage to some substrate. Glycolipids probably serve for adherence of some pathogens ["None"] ["6-26"] AF163572 6272650 GBGT1 Chromosome:9 9q34.13-q34.3 GBGT1 HGNC:20460 true 2020-06-12T23:06:49Z 2020-07-28T02:25:22Z 0 0 0 427 CDBP00426 6-pyruvoyl tetrahydrobiopterin synthase Q03393 PTPS_HUMAN true false Enzyme Homo_sapiens PTS 145 16385.63 6.68 Involved in 6-pyruvoyltetrahydropterin synthase activity Involved in the biosynthesis of tetrahydrobiopterin, an essential cofactor of aromatic amino acid hydroxylases. Catalyzes the transformation of 7,8-dihydroneopterin triphosphate into 6-pyruvoyl tetrahydropterin. 3I2B AB042297 7768658 PTS 11 11q22.3 PTS HGNC:9689 true hsa:5805 HS07692-MONOMER NP_000308.1:NM_000317.2 zinc ion Homohexamer formed of two homotrimers in a head to head fashion 2020-06-12T23:06:49Z 2020-07-28T02:25:22Z 0 1 0 428 CDBP00427 Sepiapterin reductase P35270 SPRE_HUMAN true false Enzyme Homo_sapiens SPR 261 28048.13 8.048 Involved in oxidoreductase activity Catalyzes the final one or two reductions in tetra-hydrobiopterin biosynthesis to form 5,6,7,8-tetrahydrobiopterin. 1Z6Z M76231 338021 SPR 2 2p14-p12 SPR HGNC:11257 true hsa:6697 HS03979-MONOMER NP_003115.1:NM_003124.4 Homodimer 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 429 CDBP00428 Indoleamine 2,3-dioxygenase 1 P14902 I23O1_HUMAN true false Enzyme Homo_sapiens IDO1 403 45325.89 7.295 Involved in heme binding Catalyzes the cleavage of the pyrrol ring of tryptophan and incorporates both atoms of a molecule of oxygen. 2D0T;2D0U M34455 IDO1 8 8p12-p11 IDO1 HGNC:6059 true hsa:3620 HS05502-MONOMER NP_002155.1:NM_002164.5 heme group 2020-06-12T23:06:49Z 2020-07-28T02:25:22Z 0 1 0 430 CDBP00429 Adenine phosphoribosyltransferase P07741 APT_HUMAN true false Enzyme Homo_sapiens APRT 180 19607.535 6.019 Involved in adenine phosphoribosyltransferase activity Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis. 1OPU;1ORE;1ZN7;1ZN8;1ZN9 CR749423 51476557 APRT 16 16q24 APRT HGNC:626 true hsa:353 NP_000476.1:NM_000485.2 Homodimer 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 431 CDBP00430 2-oxoglutarate dehydrogenase, mitochondrial Q02218 ODO1_HUMAN true false Enzyme Homo_sapiens OGDH 1023 48179.59 7.895 Involved in oxoglutarate dehydrogenase (succinyl-transferring) activity The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). It contains multiple copies of three enzymatic components: 2-oxoglutarate dehydrogenase (E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3). 3ERY AC004859 37674435 OGDH 7 7p14-p13 OGDH HGNC:8124 true hsa:4967 HS02832-MONOMER NP_001003941.1:NM_001003941.2;NP_001158508.1:NM_001165036.1;NP_002532.2:NM_002541.3 Thiamine pyrophosphate 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 432 CDBP00431 Non-specific lipid-transfer protein P22307 NLTP_HUMAN true true Enzyme Homo_sapiens SCP2 547 34974.505 5.658 Involved in oxidoreductase activity Mediates in vitro the transfer of all common phospholipids, cholesterol and gangliosides between membranes. May play a role in regulating steroidogenesis. 1QND;2C0L M75883 SCP2 1 1p32 SCP2 HGNC:10606 true hsa:6342 NP_001007099.1:NM_001007098.2;NP_001007100.1:NM_001007099.2;NP_001007101.1:NM_001007100.2;NP_001007251.1:NM_001007250.2;NP_001180546.1:NM_001193617.1;NP_002970.2:NM_002979.4 Liver, fibroblasts, and placenta. Interacts with PEX5 2020-06-12T23:06:49Z 2020-07-28T02:25:23Z 0 0 0 433 CDBP00432 Cytochrome P450 11B1, mitochondrial P15538 C11B1_HUMAN false false Metal Binding Homo_sapiens CYP11B1 503 57572.44 9.314 Involved in monooxygenase activity Has steroid 11-beta-hydroxylase activity. In addition to this activity, the 18 or 19-hydroxylation of steroids and the aromatization of androstendione to estrone have also been ascribed to cytochrome P450 XIB. X55764 30184 CYP11B1 8 8q21 CYP11B1 HGNC:2591 true hsa:1584 HS08547-MONOMER NP_000488.3:NM_000497.3;NP_001021384.1:NM_001026213.1 Heme group 2020-06-12T23:06:49Z 2020-07-28T02:31:56Z 0 1 0 434 CDBP00433 Solute carrier organic anion transporter family member 1B3 Q9NPD5 SO1B3_HUMAN false true Transporter Homo_sapiens SLCO1B3 702 77402.2 8.95 Involved in transporter activity Mediates the Na(+)-independent transport of organic anions such as 17-beta-glucuronosyl estradiol, taurocholate, triiodothyronine (T3), leukotriene C4, dehydroepiandrosterone sulfate (DHEAS), methotrexate and sulfobromophthalein (BSP) ["None"] ["30-50", "65-85", "97-117", "171-191", "207-227", "259-279", "336-356", "377-397", "410-430", "538-558", "575-595", "626-646"] AJ251506 9187497 SLCO1B3 Chromosome:1 12p12 SLCO1B3 HGNC:10961 true 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 435 CDBP00434 Estradiol 17-beta-dehydrogenase 2 P37059 DHB2_HUMAN true false Enzyme Homo_sapiens HSD17B2 387 42784.75 8.5 Involved in oxidoreductase activity Capable of catalyzing the interconversion of testosterone and androstenedione, as well as estradiol and estrone. Also has 20-alpha-HSD activity. Uses NADH while EDH17B3 uses NADPH. L11708 HSD17B2 16 16q24.1-q24.2 HSD17B2 HGNC:5211 true hsa:3294 NP_002144.1:NM_002153.2 2020-06-12T23:06:49Z 2020-07-28T02:25:23Z 0 0 0 436 CDBP00435 Aminopeptidase N P15144 AMPN_HUMAN true false Enzyme Homo_sapiens ANPEP 967 Involved in proteolysis Broad specificity aminopeptidase. Plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. May play a critical role in the pathogenesis of cholesterol gallstone disease. May be involved in the metabolism of regulatory peptides of diverse cell types, responsible for the processing of peptide hormones, such as angiotensin III and IV, neuropeptides, and chemokines. Found to cleave antigen peptides bound to major histocompatibility complex class II molecules of presenting cells and to degrade neurotransmitters at synaptic junctions. Is also implicated as a regulator of IL-8 bioavailability in the endometrium, and therefore may contribute to the regulation of angiogenesis. Is used as a marker for acute myeloid leukemia and plays a role in tumor invasion. In case of human coronavirus 229E (HCoV-229E) infection, serves as receptor for HCoV-229E spike glycoprotein. Mediates as well human cytomegalovirus (HCMV) infection. 4FYQ;4FYR;4FYS;4FYT X13276 28678 ANPEP ANPEP HGNC:500 true hsa:290 NP_001141.2:NM_001150.2 Expressed in epithelial cells of the kidney, intestine, and respiratory tract; granulocytes, monocytes, fibroblasts, endothelial cells, cerebral pericytes at the blood-brain barrier, synaptic membranes of cells in the CNS. Also expressed in endometrial stromal cells, but not in the endometrial glandular cells. Found in the vasculature of tissues that undergo angiogenesis and in malignant gliomas and lymph node metastases from multiple tumor types but not in blood vessels of normal tissues. A soluble form has been found in plasma. It is found to be elevated in plasma and effusions of cancer patients. zinc ion Homodimer. Interacts with the S1 domain of HCoV-229E spike protein 2020-06-12T23:06:49Z 2020-07-28T02:25:23Z 1 1 0 437 CDBP00436 UDP-glucuronosyltransferase 2B28 Q9BY64 UDB28_HUMAN true false Enzyme Homo_sapiens UGT2B28 529 38742.9 6.859 Involved in transferase activity, transferring hexosyl groups UDPGTs are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isozyme has glucuronidating capacity with steroid substrates such as 5-beta-androstane 3-alpha,17-beta-diol, estradiol, ADT, eugenol and bile acids. Only isoform 1 seems to be active. AF177272 13603476 UGT2B28 4 4q13.2 UGT2B28 HGNC:13479 true hsa:54490 NP_001193933.1:NM_001207004.1;NP_444267.1:NM_053039.1 Expressed in the liver, breast and kidney. 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 438 CDBP00437 Estrogen receptor beta Q92731 ESR2_HUMAN true false Enzyme Homo_sapiens ESR2 530 59215.8 8.55 Involved in sequence-specific DNA binding transcription factor activity Nuclear hormone receptor. Binds estrogens with an affinity similar to that of ESR1, and activates expression of reporter genes containing estrogen response elements (ERE) in an estrogen-dependent manner. Isoform beta-cx lacks ligand binding ability and has no or only very low ere binding activity resulting in the loss of ligand-dependent transactivation ability. DNA- binding by ESR1 and ESR2 is rapidly lost at 37 degrees Celsius in the absence of ligand while in the presence of 17 beta-estradiol and 4-hydroxy-tamoxifen loss in DNA-binding at elevated temperature is more gradual ["None"] ["None"] 1QKM AB006590 ESR2 Chromosome:1 14q23.2 ESR2 HGNC:3468 true 2020-06-12T23:06:49Z 2020-07-28T02:25:23Z 1 1 1 439 CDBP00438 Solute carrier organic anion transporter family member 1C1 Q9NYB5 SO1C1_HUMAN false true Transporter Homo_sapiens SLCO1C1 712 78695.6 8.59 Involved in transporter activity Mediates the Na(+)-independent high affinity transport of organic anions such as the thyroid hormones thyroxine (T4) and rT3. Other potential substrates, such as triiodothyronine (T3), 17-beta-glucuronosyl estradiol, estrone-3-sulfate and sulfobromophthalein (BSP) are transported with much lower efficiency ["None"] ["80-100", "111-131", "222-242", "270-290", "353-373", "393-413", "427-447", "550-570", "592-612", "643-663"] AF260704 SLCO1C1 Chromosome:1 12p12.2 SLCO1C1 HGNC:13819 true 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 440 CDBP00439 Estradiol 17-beta-dehydrogenase 8 Q92506 DHB8_HUMAN true false Enzyme Homo_sapiens HSD17B8 261 26973.56 6.533 Involved in oxidoreductase activity NAD-dependent 17-beta-hydroxysteroid dehydrogenase with highest activity towards estradiol. Has very low activity towards testosterone. The heteroteramer with CBR4 has NADH-dependent 3-ketoacyl-acyl carrier protein reductase activity. May play a role in biosynthesis of fatty acids in mitochondria. 2PD6 BT007239 HSD17B8 6 6p21.3 HSD17B8 HGNC:3554 true hsa:7923 NP_055049.1:NM_014234.4 Highly expressed in placenta, liver and pancreas, lower in the skeletal muscle and kidney. Widely expressed. Heterotetramer with CBR4; contains two molecules of HSD17B8 and CBR4 2020-06-12T23:06:49Z 2020-07-28T02:25:23Z 0 0 0 441 CDBP00440 Solute carrier organic anion transporter family member 1B1 Q9Y6L6 SO1B1_HUMAN false true Transporter Homo_sapiens SLCO1B1 691 76448.0 8.68 Involved in transporter activity Mediates the Na(+)-independent transport of organic anions such as pravastatin, taurocholate, methotrexate, dehydroepiandrosterone sulfate, 17-beta-glucuronosyl estradiol, estrone sulfate, prostaglandin E2, thromboxane B2, leukotriene C3, leukotriene E4, thyroxine and triiodothyronine. May play an important role in the clearance of bile acids and organic anions from the liver ["None"] ["97-117", "207-227", "259-279", "336-356", "376-396", "410-430", "575-595"] AB026257 5006265 SLCO1B1 Chromosome:1 12p SLCO1B1 HGNC:10959 true 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 442 CDBP00441 Deoxyribonuclease-1 P24855 DNAS1_HUMAN true false Enzyme Homo_sapiens DNASE1 282 31433.4 4.49 Involved in deoxyribonuclease activity Among other functions, seems to be involved in cell death by apoptosis. Binds specifically to G-actin and blocks actin polymerization ["1-22"] ["None"] M55983 DNASE1 Chromosome:1 16p13.3 DNASE1 HGNC:2956 true 2020-06-12T23:06:49Z 2020-07-28T02:25:23Z 0 0 0 443 CDBP00442 Ribonuclease pancreatic P07998 RNAS1_HUMAN true false Enzyme Homo_sapiens RNASE1 156 17644.1 8.94 Involved in nucleic acid binding Endonuclease that catalyzes the cleavage of RNA on the 3' side of pyrimidine nucleotides. Acts on single stranded and double stranded RNA ["1-28"] ["None"] 1E21 D26129 RNASE1 Chromosome:1 14q11.2 RNASE1 HGNC:10044 true 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 444 CDBP00443 UDP-glucuronosyltransferase 2B4 P06133 UD2B4_HUMAN true false Enzyme Homo_sapiens UGT2B4 528 60512.035 8.521 Involved in transferase activity, transferring hexosyl groups UDPGTs are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isozyme is active on polyhydroxylated estrogens (such as estriol, 4-hydroxyestrone and 2-hydroxyestriol) and xenobiotics (such as 4-methylumbelliferone, 1-naphthol, 4-nitrophenol, 2-aminophenol, 4-hydroxybiphenyl and menthol). It is capable of 6 alpha-hydroxyglucuronidation of hyodeoxycholic acid. Y00317 37589 UGT2B4 4 4q13 UGT2B4 HGNC:12553 true hsa:7363 NP_066962.2:NM_021139.2 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 445 CDBP00444 Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Q02809 PLOD1_HUMAN true false Enzyme Homo_sapiens PLOD1 727 83549.55 6.943 Involved in oxidoreductase activity Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links. AF490527 20149013 PLOD1 1 1p36.22 PLOD1 HGNC:9081 true hsa:5351 NP_000293.2:NM_000302.3 Iron;Ascorbate Homodimer 2020-06-12T23:06:49Z 2020-07-28T02:25:24Z 0 1 0 446 CDBP00445 Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 O00469 PLOD2_HUMAN true false Enzyme Homo_sapiens PLOD2 737 84685.07 6.705 Involved in oxidoreductase activity Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links. U84573 2138314 PLOD2 3 3q24 PLOD2 HGNC:9082 true hsa:5352 NP_000926.2:NM_000935.2;NP_891988.1:NM_182943.2 Highly expressed in pancreas and muscle. Isoform 1 and isoform 2 are expressed in the majority of the examined cell types. Isoform 2 is specifically expressed in skin, lung, dura and aorta. Iron;Ascorbate Homodimer 2020-06-12T23:06:49Z 2020-07-28T02:25:24Z 0 1 0 447 CDBP00446 Procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 O60568 PLOD3_HUMAN true false Enzyme Homo_sapiens PLOD3 738 84784.505 6.055 Involved in oxidoreductase activity Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links. AF046889 3153235 PLOD3 7 7q22 PLOD3 HGNC:9083 true hsa:8985 NP_001075.1:NM_001084.4 Iron;Ascorbate Homodimer 2020-06-12T23:06:49Z 2020-07-28T02:25:24Z 0 1 0 448 CDBP00447 Glycine amidinotransferase, mitochondrial P50440 GATM_HUMAN true false Enzyme Homo_sapiens GATM 423 48455.01 8.051 Amino acid transport and metabolism Catalyzes the biosynthesis of guanidinoacetate, the immediate precursor of creatine. Creatine plays a vital role in energy metabolism in muscle tissues. May play a role in embryonic and central nervous system development. May be involved in the response to heart failure by elevating local creatine synthesis. 1JDW;1JDX;2JDW;2JDX;3JDW;4JDW;5JDW;6JDW;7JDW;8JDW;9JDW S68805 GATM 15 15q21.1 GATM HGNC:4175 true hsa:2628 NP_001473.1:NM_001482.2 Expressed in brain, heart, kidney, liver, lung, salivary gland and skeletal muscle tissue, with the highest expression in kidney. Biallelically expressed in placenta and fetal tissues. Homodimer. There is an equilibrium between the monomeric and dimeric forms, shifted towards the side of the monomer 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 449 CDBP00448 Kynurenine--oxoglutarate transaminase 1 Q16773 KAT1_HUMAN true false Enzyme Homo_sapiens CCBL1 422 47874.765 6.473 Involved in 1-aminocyclopropane-1-carboxylate synthase activity Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid (KA). Metabolizes the cysteine conjugates of certain halogenated alkenes and alkanes to form reactive metabolites. Catalyzes the beta-elimination of S-conjugates and Se-conjugates of L-(seleno)cysteine, resulting in the cleavage of the C-S or C-Se bond. 1W7L;1W7M;1W7N;3FVS;3FVU;3FVX X82224 758591 CCBL1 9 9q34.11 CCBL1 HGNC:1564 true hsa:883 HS10240-MONOMER NP_001116143.1:NM_001122671.1;NP_001116144.1:NM_001122672.1;NP_004050.3:NM_004059.4 Pyridoxal phosphate Homodimer 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 450 CDBP00449 Chondroitin sulfate N-acetylgalactosaminyltransferase 1 Q8TDX6 CGAT1_HUMAN true false Enzyme Homo_sapiens CSGALNACT1 532 61294.005 8.411 Involved in transferase activity, transferring hexosyl groups Transfers 1,4-N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of glucuronic acid (GlcUA). Required for addition of the first GalNAc to the core tetrasaccharide linker and for elongation of chondroitin chains. Important role in chondroitin chain biosynthesis in cartilage. AB071403 19352192 CSGALNACT1 8 8p21.3 CSGALNACT1 HGNC:24290 true hsa:55790 HS07428-MONOMER NP_001123990.1:NM_001130518.1;NP_060841.5:NM_018371.4 Ubiquitous, with the highest levels in placenta, thyroid, bladder, prostate and adrenal gland. Detected at low levels in the other tissues examined. 2020-06-12T23:06:49Z 2020-07-28T02:25:25Z 0 1 0 451 CDBP00450 Galactoside 2-alpha-L-fucosyltransferase 2 Q10981 FUT2_HUMAN true false Enzyme Homo_sapiens FUT2 343 39016.84 8.544 Involved in galactoside 2-alpha-L-fucosyltransferase activity Creates a soluble precursor oligosaccharide FuC-alpha ((1,2)Galbeta-) called the H antigen which is an essential substrate for the final step in the soluble A and B antigen synthesis pathway. H and Se enzymes fucosylate the same acceptor substrates but exhibit different Km values. AY937240 60115832 FUT2 19 19q13.3 FUT2 HGNC:4013 true hsa:2524 NP_000502.4:NM_000511.5;NP_001091107.1:NM_001097638.2 Small intestine, colon and lung. 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 452 CDBP00451 Galactoside 2-alpha-L-fucosyltransferase 1 P19526 FUT1_HUMAN true false Enzyme Homo_sapiens FUT1 365 41251.11 7.355 Involved in galactoside 2-alpha-L-fucosyltransferase activity Creates a soluble precursor oligosaccharide FuC-alpha ((1,2)Galbeta-) called the H antigen which is an essential substrate for the final step in the soluble A and B antigen synthesis pathway. H and Se enzymes fucosylate the same acceptor substrates but exhibit different Km values. AB004861 2217925 FUT1 19 19q13.3 FUT1 HGNC:4012 true hsa:2523 NP_000139.1:NM_000148.3 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 453 CDBP00452 Tryptophan 5-hydroxylase 1 P17752 TPH1_HUMAN true false Enzyme Homo_sapiens TPH1 444 50984.725 7.209 Involved in amino acid binding 1IN9;1MLW;3HF6;3HF8;3HFB X52836 37955 TPH1 11 11p15.3-p14 TPH1 HGNC:12008 true hsa:7166 HS05250-MONOMER NP_004170.1:NM_004179.2 Isoform 2 seems to be less widely expressed than isoform 1. Fe(2+) ion Homotetramer 2020-06-12T23:06:49Z 2020-07-28T02:25:25Z 0 1 0 454 CDBP00453 Ferritin, mitochondrial Q8N4E7 FTMT_HUMAN false false Metal Binding Homo_sapiens FTMT 242 27537.885 7.276 Involved in oxidoreductase activity Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Has ferroxidase activity. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. 1R03 BC034419 21707936 FTMT 5 5q21.3 FTMT HGNC:17345 true hsa:94033 NP_803431.1:NM_177478.1 Detected in testis and erythroleukemia. Expression is very low or not detectable in brain, colon, heart, kidney, liver, lung, muscle, placental, spleen and small intestine. Homooligomer of 24 subunits. The functional molecule is roughly spherical and contains a central cavity into which the polymeric mineral iron core is deposited 2020-06-12T23:06:49Z 2020-07-28T02:31:56Z 0 1 0 455 CDBP00454 Tryptophan 5-hydroxylase 2 Q8IWU9 TPH2_HUMAN true false Enzyme Homo_sapiens TPH2 490 56056.295 6.415 Involved in amino acid binding AY098914 TPH2 12 12q21.1 TPH2 HGNC:20692 true hsa:121278 NP_775489.2:NM_173353.3 Brain specific. Fe(2+) ion 2020-06-12T23:06:49Z 2020-07-28T02:25:25Z 0 1 0 456 CDBP00455 Ceruloplasmin P00450 CERU_HUMAN false false Metal Binding Homo_sapiens CP 1065 122204.45 5.716 Involved in oxidoreductase activity Ceruloplasmin is a blue, copper-binding (6-7 atoms per molecule) glycoprotein. It has ferroxidase activity oxidizing Fe(2+) to Fe(3+) without releasing radical oxygen species. It is involved in iron transport across the cell membrane. Provides Cu(2+) ions for the ascorbate-mediated deaminase degradation of the heparan sulfate chains of GPC1. May also play a role in fetal lung development or pulmonary antioxidant defense (By similarity). 1KCW;2J5W M13699 180256 CP 3 3q23-q25 CP HGNC:2295 true hsa:1356 HS00590-MONOMER NP_000087.1:NM_000096.3 Expressed by the liver and secreted in plasma. copper ions per monomer 2020-06-12T23:06:49Z 2020-07-28T02:31:56Z 0 1 0 457 CDBP00456 Beta-Ala-His dipeptidase Q96KN2 CNDP1_HUMAN true false Enzyme Homo_sapiens CNDP1 507 56691.6 4.95 Involved in metallopeptidase activity Preferential hydrolysis of the beta-Ala-|-His dipeptide (carnosine), and also anserine, Xaa-|-His dipeptides and other dipeptides including homocarnosine ["1-26"] ["None"] NM_032649.5 21071039 CNDP1 Chromosome:1 18q22.3 CNDP1 HGNC:20675 true 2020-06-12T23:06:49Z 2020-07-28T02:25:25Z 0 0 0 458 CDBP00457 Protein arginine N-methyltransferase 3 O60678 ANM3_HUMAN true false Enzyme Homo_sapiens PRMT3 531 59902.7 5.0 Involved in protein methyltransferase activity Methylates (mono and asymmetric dimethylation) the guanidino nitrogens of arginyl residues in some proteins ["None"] ["None"] 1F3L BC037544 45946104 PRMT3 Chromosome:1 11p15.1 PRMT3 HGNC:30163 true 2020-06-12T23:06:49Z 2020-07-28T02:25:25Z 0 1 0 459 CDBP00458 Hypoxanthine-guanine phosphoribosyltransferase P00492 HPRT_HUMAN true false Enzyme Homo_sapiens HPRT1 218 24579.155 6.689 Involved in hypoxanthine phosphoribosyltransferase activity Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the 5-phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of purine nucleotides through the purine salvage pathway. 1BZY;1D6N;1HMP;1Z7G;2VFA;3GEP;3GGC;3GGJ M31642 306885 HPRT1 X Xq26.1 HPRT1 HGNC:5157 true hsa:3251 HS09275-MONOMER NP_000185.1:NM_000194.2 magnesium ions . The magnesium ions are essentially bound to the substrate and have few direct interactions with the protein Homotetramer 2020-06-12T23:06:49Z 2020-07-28T02:25:26Z 0 0 0 460 CDBP00459 Peroxisomal multifunctional enzyme type 2 P51659 DHB4_HUMAN false false Enzyme Homo_sapiens HSD17B4 736 79685.715 8.832 Involved in oxidoreductase activity Bifunctional enzyme acting on the peroxisomal beta-oxidation pathway for fatty acids. Catalyzes the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. 1IKT;1S9C;1ZBQ X87176 1050517 HSD17B4 5 5q21 HSD17B4 HGNC:5213 true hsa:3295 NP_000405.1:NM_000414.3;NP_001186220.1:NM_001199291.1;NP_001186221.1:NM_001199292.1 Present in many tissues with highest concentrations in liver, heart, prostate and testis. Homodimer 2020-06-12T23:06:49Z 2020-07-28T02:33:16Z 0 0 0 461 CDBP00460 UDP-glucuronosyltransferase 1-4 P22310 UD14_HUMAN true false Enzyme Homo_sapiens UGT1A4 534 60024.535 8.543 Involved in transferase activity, transferring hexosyl groups UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform glucuronidates bilirubin IX-alpha to form both the IX-alpha-C8 and IX-alpha-C12 monoconjugates and diconjugate. M57951 UGT1A4 2 2q37 UGT1A4 HGNC:12536 true hsa:54657 HS11970-MONOMER NP_009051.1:NM_007120.2 Expressed in liver. Not expressed in skin or kidney. 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 462 CDBP00461 UDP-glucuronosyltransferase 2B10 P36537 UDB10_HUMAN true false Enzyme Homo_sapiens UGT2B10 528 60773.485 8.996 Involved in transferase activity, transferring hexosyl groups UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. AK292738 158258913 UGT2B10 4 4q13.2 UGT2B10 HGNC:12544 true hsa:7365 NP_001066.1:NM_001075.4 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 463 CDBP00462 UDP-glucuronosyltransferase 2B7 P16662 UD2B7_HUMAN true false Enzyme Homo_sapiens UGT2B7 529 60720.15 8.303 Involved in transferase activity, transferring hexosyl groups UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Its unique specificity for 3,4-catechol estrogens and estriol suggests it may play an important role in regulating the level and activity of these potent and active estrogen metabolites. Is also active with androsterone, hyodeoxycholic acid and tetrachlorocatechol (in vitro). 2O6L J05428 UGT2B7 4 4q13 UGT2B7 HGNC:12554 true hsa:7364 HS10272-MONOMER NP_001065.2:NM_001074.2 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 464 CDBP00463 UDP-glucuronosyltransferase 2B15 P54855 UDB15_HUMAN true false Enzyme Homo_sapiens UGT2B15 530 61035.815 8.826 Involved in transferase activity, transferring hexosyl groups UDPGTs are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isozyme displays activity toward several classes of xenobiotic substrates, including simple phenolic compounds, 7-hydroxylated coumarins, flavonoids, anthraquinones, and certain drugs and their hydroxylated metabolites. It also catalyzes the glucuronidation of endogenous estrogens and androgens. NM_001076.2 116517299 UGT2B15 4 4q13 UGT2B15 HGNC:12546 true hsa:7366 NP_001067.2:NM_001076.3 Expressed in many tissues. Present in liver, prostate and testis. 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 465 CDBP00464 UDP-glucuronosyltransferase 2A1 Q9Y4X1 UD2A1_HUMAN true false Enzyme Homo_sapiens UGT2A1 527 60771.605 8.796 Involved in transferase activity, transferring hexosyl groups UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Active on odorants and seems to be involved in olfaction; it could help clear lipophilic odorant molecules from the sensory epithelium. NM_006798.2 110611919 UGT2A1 4 4q13.3 UGT2A1 HGNC:28183 true hsa:574537 NP_001099147.2:NM_001105677.2;NP_001239203.1:NM_001252274.1;NP_001239204.1:NM_001252275.1;NP_006789.2:NM_006798.3 Olfactory epithelium and brain. Isoform 2 is mainly expressed in the nasal mucosa. 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 466 CDBP00465 UDP-glucuronosyltransferase 1-1 P22309 UD11_HUMAN true false Enzyme Homo_sapiens UGT1A1 533 59590.91 8.006 Involved in transferase activity, transferring hexosyl groups UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform glucuronidates bilirubin IX-alpha to form both the IX-alpha-C8 and IX-alpha-C12 monoconjugates and diconjugate. Is also able to catalyze the glucuronidation of 17beta-estradiol, 17alpha-ethinylestradiol, 1-hydroxypyrene, 4-methylumbelliferone, 1-naphthol, paranitrophenol, scopoletin, and umbelliferone. M57899 UGT1A1 2 2q37 UGT1A1 HGNC:12530 true hsa:54658 NP_000454.1:NM_000463.2 Expressed in liver. Not expressed in skin or kidney. Part of a large chaperone multiprotein complex comprising DNAJB11, HSP90B1, HSPA5, HYOU, PDIA2, PDIA4, PDIA6, PPIB, SDF2L1, UGT1A1 and very small amounts of ERP29, but not, or at very low levels, CALR nor CANX 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 467 CDBP00466 UDP-glucuronosyltransferase 1-9 O60656 UD19_HUMAN true false Enzyme Homo_sapiens UGT1A9 530 59940.495 7.895 Involved in transferase activity, transferring hexosyl groups UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform has specificity for phenols. AF056188 3025896 UGT1A9 2 2q37 UGT1A9 HGNC:12541 true hsa:54600 NP_066307.1:NM_021027.2 Liver. 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 468 CDBP00467 UDP-glucuronosyltransferase 1-8 Q9HAW9 UD18_HUMAN true false Enzyme Homo_sapiens UGT1A8 530 59741.035 7.68 Involved in transferase activity, transferring hexosyl groups UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. AF030310 2613044 UGT1A8 2 2q37 UGT1A8 HGNC:12540 true hsa:54576 HS10706-MONOMER NP_061949.3:NM_019076.4 Colon specific. 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 469 CDBP00468 UDP-glucuronosyltransferase 1-3 P35503 UD13_HUMAN true false Enzyme Homo_sapiens UGT1A3 534 60337.835 8.18 Involved in transferase activity, transferring hexosyl groups UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. AF297093 11118746 UGT1A3 2 2q37 UGT1A3 HGNC:12535 true hsa:54659 UGT1A3-MONOMER NP_061966.1:NM_019093.2 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 470 CDBP00469 UDP-glucuronosyltransferase 1-10 Q9HAW8 UD110_HUMAN true false Enzyme Homo_sapiens UGT1A10 530 59809.075 7.298 Involved in transferase activity, transferring hexosyl groups UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. AF297093 11118741 UGT1A10 2 2q37 UGT1A10 HGNC:12531 true hsa:54575 NP_061948.1:NM_019075.2 Liver and colon. 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 471 CDBP00470 UDP-glucuronosyltransferase 2B17 O75795 UDB17_HUMAN true false Enzyme Homo_sapiens UGT2B17 530 61094.915 8.544 Involved in transferase activity, transferring hexosyl groups UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. The major substrates of this isozyme are eugenol > 4-methylumbelliferone > dihydrotestosterone (DHT) > androstane-3-alpha,17-beta-diol (3-alpha-diol) > testosterone > androsterone (ADT). U59209 UGT2B17 4 4q13 UGT2B17 HGNC:12547 true hsa:7367 NP_001068.1:NM_001077.3 Expressed in various tissues including the liver, kidney, testis, uterus, placenta, mammary gland, adrenal gland, skin and prostate. 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 472 CDBP00471 UDP-glucuronosyltransferase 1-6 P19224 UD16_HUMAN true false Enzyme Homo_sapiens UGT1A6 532 60750.215 8.416 Involved in transferase activity, transferring hexosyl groups UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform has specificity for phenols. NM_001072.3 45827765 UGT1A6 2 2q37 UGT1A6 HGNC:12538 true hsa:54578 NP_001063.2:NM_001072.3 Expressed in skin, kidney and liver. 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 473 CDBP00472 UDP-glucuronosyltransferase 1-5 P35504 UD15_HUMAN true false Enzyme Homo_sapiens UGT1A5 534 60070.565 8.057 Involved in transferase activity, transferring hexosyl groups UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. AF297093 11118746 UGT1A5 2 2q37 UGT1A5 HGNC:12537 true hsa:54579 NP_061951.1:NM_019078.1 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 474 CDBP00473 UDP-glucuronosyltransferase 2B11 O75310 UDB11_HUMAN true false Enzyme Homo_sapiens UGT2B11 529 61037.8 8.924 Involved in transferase activity, transferring hexosyl groups UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. AF016492 3360273 UGT2B11 4 4q13.2 UGT2B11 HGNC:12545 true hsa:10720 NP_001064.1:NM_001073.1 Widely expressed. 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 475 CDBP00474 Trans-1,2-dihydrobenzene-1,2-diol dehydrogenase Q9UQ10 DHDH_HUMAN true false Enzyme Homo_sapiens DHDH 334 36381.705 7.2 Involved in catalytic activity AB021933 5771250 DHDH 19 19q13.3 DHDH HGNC:17887 true hsa:27294 NP_055290.1:NM_014475.3 Small intestine. Homodimer 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 476 CDBP00475 Steryl-sulfatase P08842 STS_HUMAN true false Enzyme Homo_sapiens STS 583 65491.72 7.668 Involved in catalytic activity Conversion of sulfated steroid precursors to estrogens during pregnancy. 1P49 J04964 338565 STS X Xp22.32 STS HGNC:11425 true hsa:412 NP_000342.2:NM_000351.4 calcium ion Homodimer 2020-06-12T23:06:49Z 2020-07-28T02:25:27Z 0 1 0 477 CDBP00476 UDP-glucuronosyltransferase 1-7 Q9HAW7 UD17_HUMAN true false Enzyme Homo_sapiens UGT1A7 530 59818.315 7.787 Involved in transferase activity, transferring hexosyl groups UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. AF297093 11118741 UGT1A7 2 2q37 UGT1A7 HGNC:12539 true hsa:54577 NP_061950.2:NM_019077.2 Liver and gastric tissue. 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 478 CDBP00477 11-cis retinol dehydrogenase Q92781 RDH1_HUMAN true false Enzyme Homo_sapiens RDH5 318 34978.425 9.35 Involved in oxidoreductase activity Stereospecific 11-cis retinol dehydrogenase, which catalyzes the final step in the biosynthesis of 11-cis retinaldehyde, the universal chromophore of visual pigments. Also able to oxidize 9-cis-retinol and 13-cis-retinol, but not all-trans-retinol. Active in the presence of NAD as cofactor but not in the presence of NADP. U43559 RDH5 12 12q13-q14 RDH5 HGNC:9940 true hsa:5959 HS06003-MONOMER NP_001186700.1:NM_001199771.1;NP_002896.2:NM_002905.3 Abundant in the retinal pigment epithelium. Expressed at high levels in mammary tissue, kidney and testis, and at lower levels in liver, heart, adrenal gland, lung, pancreas and skeletal muscle. Homodimer 2020-06-12T23:06:49Z 2020-07-28T02:25:28Z 0 0 0 479 CDBP00478 tRNA-dihydrouridine synthase 2-like Q9NX74 DUS2L_HUMAN true false Enzyme Homo_sapiens DUS2L 493 55049.8 7.12 Involved in catalytic activity Dihydrouridine synthase. Catalyzes the synthesis of dihydrouridine, a modified base found in the D-loop of most tRNAs ["None"] ["None"] AB101210 71006842 DUS2L Chromosome:1 16q22.1 DUS2L HGNC:26014 true 2020-06-12T23:06:49Z 2020-07-28T02:25:28Z 0 0 0 480 CDBP00479 Liver carboxylesterase 1 P23141 EST1_HUMAN true false Enzyme Homo_sapiens CES1 567 62520.62 6.601 Lipid transport and metabolism Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs. Hydrolyzes aromatic and aliphatic esters, but has no catalytic activity toward amides or a fatty acyl-CoA ester. Hydrolyzes the methyl ester group of cocaine to form benzoylecgonine. Catalyzes the transesterification of cocaine to form cocaethylene. Displays fatty acid ethyl ester synthase activity, catalyzing the ethyl esterification of oleic acid to ethyloleate. 1MX1;1MX5;1MX9;1YA4;1YA8;1YAH;1YAJ;2DQY;2DQZ;2DR0;2H7C;2HRQ;2HRR;3K9B;4AB1 M73499 CES1 16 16q22.2 CES1 HGNC:1863 true hsa:1066 HS11616-MONOMER NP_001020365.1:NM_001025194.1;NP_001020366.1:NM_001025195.1;NP_001257.4:NM_001266.4 Expressed predominantly in liver with lower levels in heart and lung. Homotrimer and homohexamer. Binds to beta-glucuronidase 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 481 CDBP00480 Cocaine esterase O00748 EST2_HUMAN true false Enzyme Homo_sapiens CES2 559 68898.39 6.489 Lipid transport and metabolism Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs. Shows high catalytic efficiency for hydrolysis of cocaine, 4-methylumbelliferyl acetate, heroin and 6-monoacetylmorphine. Y09616 2058318 CES2 16 16q22.1 CES2 HGNC:1864 true hsa:8824 NP_003860.2:NM_003869.5;NP_932327.1:NM_198061.2 Preferentially expressed in intestine with moderate expression in liver. Within the intestine, highest expression is found in small intestine with lower expression in colon and rectum. Monomer 2020-06-12T23:06:49Z 2020-06-12T23:06:49Z 0 0 0 482 CDBP00481 Sterol O-acyltransferase 2 O75908 SOAT2_HUMAN true false Enzyme Homo_sapiens SOAT2 522 59895.735 8.638 Involved in acyl-CoA binding Plays a role in lipoprotein assembly and dietary cholesterol absorption. In addition to its acyltransferase activity, it may act as a ligase. May provide cholesteryl esters for lipoprotein secretion from hepatocytes and intestinal mucosa. AF059203 SOAT2 12 12q13.13 SOAT2 HGNC:11178 true hsa:8435 NP_003569.1:NM_003578.3 May form homo- or heterodimers 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 483 CDBP00482 S-formylglutathione hydrolase P10768 ESTD_HUMAN true false Enzyme Homo_sapiens ESD 282 31462.545 7.014 Involved in carboxylesterase activity Serine hydrolase involved in the detoxification of formaldehyde. 3FCX AF112219 ESD 13 13q14.1-q14.2 ESD HGNC:3465 true hsa:2098 NP_001975.1:NM_001984.1 Homodimer 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 484 CDBP00483 Cholesterol 7-alpha-monooxygenase P22680 CP7A1_HUMAN true false Enzyme Homo_sapiens CYP7A1 504 57660.155 8.228 Involved in monooxygenase activity Catalyzes a rate-limiting step in cholesterol catabolism and bile acid biosynthesis by introducing a hydrophilic moiety at position 7 of cholesterol. Important for cholesterol homeostasis. 3DAX;3SN5;3V8D BC101777 75517898 CYP7A1 8 8q11-q12 CYP7A1 HGNC:2651 true hsa:1581 HS09659-MONOMER NP_000771.2:NM_000780.3 Detected in liver. Heme group 2020-06-12T23:06:50Z 2020-07-28T02:25:28Z 0 1 0 485 CDBP00484 Sterol O-acyltransferase 1 P35610 SOAT1_HUMAN true false Enzyme Homo_sapiens SOAT1 550 58130.665 9.059 Involved in acyl-CoA binding Catalyzes the formation of fatty acid-cholesterol esters. Plays a role in lipoprotein assembly and dietary cholesterol absorption. In addition to its acyltransferase activity, it may act as a ligase. AL451075 55959989 SOAT1 1 1q25 SOAT1 HGNC:11177 true hsa:6646 NP_001239440.1:NM_001252511.1;NP_001239441.1:NM_001252512.1;NP_003092.4:NM_003101.5 May form homo- or heterodimers 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 486 CDBP00485 Sorbitol dehydrogenase Q00796 DHSO_HUMAN true false Enzyme Homo_sapiens SORD 357 38324.25 7.978 Involved in zinc ion binding Converts sorbitol to fructose. Part of the polyol pathway that plays an important role in sperm physiology. May play a role in the sperm motility by providing an energetic source for sperm (By similarity). 1PL6;1PL7;1PL8 NM_003104.5 156627571 SORD 15 15q15.3 SORD HGNC:11184 true hsa:6652 NP_003095.2:NM_003104.5 Expressed in kidney and epithelial cells of both benign and malignant prostate tissue. Expressed in epididymis (at protein level). zinc ion Homotetramer 2020-06-12T23:06:50Z 2020-07-28T02:25:29Z 0 1 0 487 CDBP00486 Alcohol dehydrogenase [NADP(+)] P14550 AK1A1_HUMAN true false Enzyme Homo_sapiens AKR1A1 325 36572.71 6.793 Involved in oxidoreductase activity Catalyzes the NADPH-dependent reduction of a variety of aromatic and aliphatic aldehydes to their corresponding alcohols. Catalyzes the reduction of mevaldate to mevalonic acid and of glyceraldehyde to glycerol. Has broad substrate specificity. In vitro substrates include succinic semialdehyde, 4-nitrobenzaldehyde, 1,2-naphthoquinone, methylglyoxal, and D-glucuronic acid. Plays a role in the activation of procarcinogens, such as polycyclic aromatic hydrocarbon trans-dihydrodiols, and in the metabolism of various xenobiotics and drugs, including the anthracyclines doxorubicin (DOX) and daunorubicin (DAUN). 2ALR J04794 AKR1A1 1 1p33-p32 AKR1A1 HGNC:380 true hsa:10327 NP_001189342.1:NM_001202413.1;NP_001189343.1:NM_001202414.1;NP_006057.1:NM_006066.3;NP_697021.1:NM_153326.2 Widely expressed. Highly expressed in kidney, salivary gland and liver. Detected in trachea, stomach, brain, lung, prostate, placenta, mammary gland, small intestine and lung. Monomer 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 488 CDBP00487 Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial Q9HCC0 MCCB_HUMAN true false Enzyme Homo_sapiens MCCC2 563 61332.65 7.673 Involved in ligase activity AB050049 MCCC2 5 5q12-q13 MCCC2 HGNC:6937 true hsa:64087 ENSG00000131844-MONOMER NP_071415.1:NM_022132.4 Probably a dodecamer composed of six biotin-containing alpha subunits and six beta subunits 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 489 CDBP00488 Biotin--protein ligase P50747 BPL1_HUMAN true false Enzyme Homo_sapiens HLCS 726 80759.345 5.613 Involved in biotin-[acetyl-CoA-carboxylase] ligase activity Post-translational modification of specific protein by attachment of biotin. Acts on various carboxylases such as acetyl-CoA-carboxylase, pyruvate carboxylase, propionyl CoA carboxylase, and 3-methylcrotonyl CoA carboxylase. D23672 HLCS 21 21q22.13 HLCS HGNC:4976 true hsa:3141 NP_000402.3:NM_000411.6;NP_001229713.1:NM_001242784.1;NP_001229714.1:NM_001242785.1 Mostly expressed in muscle, placenta, in lesser extent in the brain, kidney, pancreas, liver and lung. Monomer 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 490 CDBP00489 Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial Q96RQ3 MCCA_HUMAN true false Enzyme Homo_sapiens MCCC1 725 80472.45 7.775 Involved in catalytic activity 2EJM AF310972 MCCC1 3 3q27 MCCC1 HGNC:6936 true hsa:56922 ENSG00000078070-MONOMER NP_064551.3:NM_020166.3 Biotin Probably a dodecamer composed of six biotin-containing alpha subunits and six beta subunits 2020-06-12T23:06:50Z 2020-07-28T02:25:29Z 0 1 0 491 CDBP00490 Alcohol dehydrogenase 4 P08319 ADH4_HUMAN true false Enzyme Homo_sapiens ADH4 380 40221.335 7.936 Involved in zinc ion binding 3COS AK290835 158255106 ADH4 4 4q22 ADH4 HGNC:252 true hsa:127 HS06569-MONOMER NP_000661.2:NM_000670.3 zinc ions Homodimer 2020-06-12T23:06:50Z 2020-07-28T02:25:29Z 0 1 0 492 CDBP00491 Glutamate--cysteine ligase catalytic subunit P48506 GSH1_HUMAN true false Enzyme Homo_sapiens GCLC 637 68629.42 5.935 Involved in glutamate-cysteine ligase activity M90656 GCLC 6 6p12 GCLC HGNC:4311 true hsa:2729 ENSG00000001084-MONOMER NP_001184044.1:NM_001197115.1;NP_001489.1:NM_001498.3 Heterodimer of a catalytic heavy chain and a regulatory light chain 2020-06-12T23:06:50Z 2020-07-28T02:25:29Z 0 0 1 493 CDBP00492 Glutamate--cysteine ligase regulatory subunit P48507 GSH0_HUMAN true false Enzyme Homo_sapiens GCLM 274 30726.7 5.91 Involved in oxidoreductase activity ["None"] ["None"] L35546 GCLM Chromosome:1 1p22.1 GCLM HGNC:4312 true 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 494 CDBP00493 N-acetylglutamate synthase, mitochondrial Q8N159 NAGS_HUMAN true false Enzyme Homo_sapiens NAGS 534 58155.835 8.892 Involved in N-acetyltransferase activity Plays a role in the regulation of ureagenesis by producing variable amounts of N-acetylglutamate (NAG), thus modulating carbamoylphosphate synthase I (CPSI) activity. AY116538 22651771 NAGS 17 17q21.31 NAGS HGNC:17996 true hsa:162417 NP_694551.1:NM_153006.2 Highly expressed in the adult liver, kidney and small intestine. Weakly expressed in the fetal liver, lung, pancreas, placenta, heart and brain tissue. 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 495 CDBP00494 Branched-chain-amino-acid aminotransferase, mitochondrial O15382 BCAT2_HUMAN true false Enzyme Homo_sapiens BCAT2 392 33776.315 7.72 Involved in catalytic activity Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine. May also function as a transporter of branched chain alpha-keto acids. 1EKF;1EKP;1EKV;1KT8;1KTA;2A1H;2HDK;2HG8;2HGW;2HGX;2HHF AF268047 13699234 BCAT2 19 19q13 BCAT2 HGNC:977 true hsa:587 NP_001158245.1:NM_001164773.1;NP_001181.2:NM_001190.3 Ubiquitous. Pyridoxal phosphate Homodimer 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 496 CDBP00495 Mitochondrial peptide methionine sulfoxide reductase Q9UJ68 MSRA_HUMAN true false Enzyme Homo_sapiens MSRA 235 21737.41 7.592 Involved in oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor Has an important function as a repair enzyme for proteins that have been inactivated by oxidation. Catalyzes the reversible oxidation-reduction of methionine sulfoxide in proteins to methionine. AJ242973 6136945 MSRA 8 8p23.1 MSRA HGNC:7377 true hsa:4482 NP_001129142.1:NM_001135670.1;NP_001129143.1:NM_001135671.1;NP_001186658.1:NM_001199729.1;NP_036463.1:NM_012331.3 Ubiquitous. Highest expression in adult kidney and cerebellum, followed by liver, heart ventricles, bone marrow and hippocampus. 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 497 CDBP00496 Phenylalanine--tRNA ligase beta subunit Q9NSD9 SYFB_HUMAN true false Enzyme Homo_sapiens FARSB 589 66114.93 6.841 Involved in RNA binding 3L4G NM_005687.3 124028525 FARSB 2 2q36.1 FARSB HGNC:17800 true hsa:10056 NP_005678.3:NM_005687.3 Tetramer of two alpha and two beta subunits 2020-06-12T23:06:50Z 2020-07-28T02:25:30Z 0 1 0 498 CDBP00497 Platelet-activating factor acetylhydrolase Q13093 PAFA_HUMAN true false Enzyme Homo_sapiens PLA2G7 441 50076.99 7.556 Involved in 1-alkyl-2-acetylglycerophosphocholine esterase activity Modulates the action of platelet-activating factor (PAF) by hydrolyzing the sn-2 ester bond to yield the biologically inactive lyso-PAF. Has a specificity for substrates with a short residue at the sn-2 position. It is inactive against long-chain phospholipids. 3D59;3D5E;3F96;3F97;3F98;3F9C U20157 PLA2G7 6 6p21.2-p12 PLA2G7 HGNC:9040 true hsa:7941 NP_001161829.1:NM_001168357.1;NP_005075.3:NM_005084.3 Plasma. 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 499 CDBP00498 Acetylcholinesterase P22303 ACES_HUMAN true false Enzyme Homo_sapiens ACHE 614 67795.525 6.291 Involved in carboxylesterase activity Terminates signal transduction at the neuromuscular junction by rapid hydrolysis of the acetylcholine released into the synaptic cleft. Role in neuronal apoptosis. 1B41;1F8U;1PUV;1PUW;1VZJ;2CLJ;2X8B;3LII;4EY4;4EY5;4EY6;4EY7;4EY8 M55040 177975 ACHE 7 7q22 ACHE HGNC:108 true hsa:43 NP_000656.1:NM_000665.3;NP_056646.1:NM_015831.2 Isoform H is highly expressed in erythrocytes. Interacts with PRIMA1. The interaction with PRIMA1 is required to anchor it to the basal lamina of cells and organize into tetramers . Isoform H generates GPI-anchored dimers; disulfide linked. Isoform T generates multiple structures, ranging from monomers and dimers to collagen-tailed and hydrophobic-tailed forms, in which catalytic tetramers are associated with anchoring proteins that attach them to the basal lamina or to cell membranes. In the collagen-tailed forms, isoform T subunits are associated with a specific collagen, COLQ, which triggers the formation of isoform T tetramers, from monomers and dimers. Isoform R may be monomeric 2020-06-12T23:06:50Z 2020-07-28T02:25:30Z 1 0 0 500 CDBP00499 Cholinesterase P06276 CHLE_HUMAN true false Enzyme Homo_sapiens BCHE 602 68417.575 7.421 Involved in carboxylesterase activity Esterase with broad substrate specificity. Contributes to the inactivation of the neurotransmitter acetylcholine. Can degrade neurotoxic organophosphate esters. 1EHO;1EHQ;1KCJ;1P0I;1P0M;1P0P;1P0Q;1XLU;1XLV;1XLW;2J4C;2PM8;2WID;2WIF;2WIG;2WIJ;2WIK;2WIL;2WSL;2XMB;2XMC;2XMD;2XMG;2XQF;2XQG;2XQI;2XQJ;2XQK;2Y1K;3DJY;3DKK;3O9M;4AQD;4AXB;4B0O;4B0P M16541 180484 BCHE 3 3q26.1-q26.2 BCHE HGNC:983 true hsa:590 NP_000046.1:NM_000055.2 Detected in blood plasma (at protein level). Present in most cells except erythrocytes. Homotetramer; disulfide-linked. Dimer of dimers 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 501 CDBP00500 Peptidyl-tRNA hydrolase 2, mitochondrial Q9Y3E5 PTH2_HUMAN true false Enzyme Homo_sapiens PTRH2 179 19193.39 8.733 Involved in aminoacyl-tRNA hydrolase activity The natural substrate for this enzyme may be peptidyl-tRNAs which drop off the ribosome during protein synthesis (By similarity). Promotes caspase-independent apoptosis by regulating the function of two transcriptional regulators, AES and TLE1. 1Q7S AF151905 4929763 PTRH2 17 17q23.1 PTRH2 HGNC:24265 true hsa:51651 NP_057161.1:NM_016077.3 Monomer 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 502 CDBP00501 Phospholipase DDHD1 Q8NEL9 DDHD1_HUMAN true false Enzyme Homo_sapiens DDHD1 900 100434.4 5.44 Involved in metal ion binding Probable phospholipase that hydrolyzes phosphatidic acid. The different isoforms may change the substrate specificity ["None"] ["None"] NM_001160148.1 237757346 DDHD1 Chromosome:1 14q21 DDHD1 HGNC:19714 true 2020-06-12T23:06:50Z 2020-07-28T02:25:31Z 0 1 0 503 CDBP00502 Platelet-activating factor acetylhydrolase IB subunit gamma Q15102 PA1B3_HUMAN true false Enzyme Homo_sapiens PAFAH1B3 231 25734.13 6.84 Involved in hydrolase activity Inactivates paf by removing the acetyl group at the sn-2 position. This is a catalytic subunit. Plays an important role during the development of brain. D63391 PAFAH1B3 19 19q13.1 PAFAH1B3 HGNC:8576 true hsa:5050 NP_001139411.1:NM_001145939.1;NP_001139412.1:NM_001145940.1;NP_002564.1:NM_002573.3 In the adult, expressed in brain, skeletal muscle, kidney, thymus, spleen, colon, testis, ovary and peripheral blood leukocytes. In the fetus, highest expression occurs in brain. Cytosolic PAF-AH IB is formed of three subunits of 45 kDa (alpha), 30 kDa (beta) and 29 kDa (gamma). The catalytic activity of the enzyme resides in the beta and gamma subunits, whereas the alpha subunit has regulatory activity. Trimer formation is not essential for the catalytic activity 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 504 CDBP00503 Cytosolic phospholipase A2 gamma Q9UP65 PA24C_HUMAN true false Enzyme Homo_sapiens PLA2G4C 541 60938.07 6.935 Involved in metabolic process Has a preference for arachidonic acid at the sn-2 position of phosphatidylcholine as compared with palmitic acid. NM_003706.2 226693354 PLA2G4C 19 19q13.3 PLA2G4C HGNC:9037 true hsa:8605 NP_003697.2:NM_003706.2 Highly expressed in heart and skeletal muscle. 2020-06-12T23:06:50Z 2020-07-28T02:25:31Z 0 0 0 505 CDBP00504 Platelet-activating factor acetylhydrolase IB subunit beta P68402 PA1B2_HUMAN true false Enzyme Homo_sapiens PAFAH1B2 229 22733.715 6.046 Involved in hydrolase activity Inactivates PAF by removing the acetyl group at the sn-2 position. This is a catalytic subunit. 1VYH BC000398 12653259 PAFAH1B2 11 11q23 PAFAH1B2 HGNC:8575 true hsa:5049 NP_001171675.1:NM_001184746.1;NP_001171676.1:NM_001184747.1;NP_001171677.1:NM_001184748.1;NP_002563.1:NM_002572.3 Ubiquitous. Cytosolic PAF-AH IB is formed of three subunits of 45 kDa (alpha), 30 kDa (beta) and 29 kDa (gamma). The catalytic activity of the enzyme resides in the beta and gamma subunits, whereas the alpha subunit has regulatory activity. Trimer formation is not essential for the catalytic activity 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 506 CDBP00505 Hormone-sensitive lipase Q05469 LIPS_HUMAN true false Enzyme Homo_sapiens LIPE 1076 116596.715 6.697 Involved in hydrolase activity In adipose tissue and heart, it primarily hydrolyzes stored triglycerides to free fatty acids, while in steroidogenic tissues, it principally converts cholesteryl esters to free cholesterol for steroid hormone production. BC070041 47124456 LIPE 19 19q13.2 LIPE HGNC:6621 true hsa:3991 HS01328-MONOMER NP_005348.2:NM_005357.2 Interacts with PTRF in the adipocyte cytoplasm 2020-06-12T23:06:50Z 2020-07-28T02:25:32Z 0 0 0 507 CDBP00506 Group 3 secretory phospholipase A2 Q9NZ20 PA2G3_HUMAN true false Enzyme Homo_sapiens PLA2G3 509 57166.51 9.07 Involved in phospholipase A2 activity PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. Shows an 11-fold preference for phosphatidylglycerol over phosphatidylcholine (PC). Preferential cleavage: 1-palmitoyl-2-linoleoyl-phosphatidylethanolamine (PE) > 1-palmitoyl-2-linoleoyl-PC > 1-palmitoyl-2-arachidonoyl-PC > 1-palmitoyl-2-arachidonoyl-PE. Plays a role in ciliogenesis. NM_015715.3 142976884 PLA2G3 22 22q12.2 PLA2G3 HGNC:17934 true hsa:50487 NP_056530.2:NM_015715.3 Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). calcium ion 2020-06-12T23:06:50Z 2020-07-28T02:25:32Z 0 0 0 508 CDBP00507 Platelet-activating factor acetylhydrolase 2, cytoplasmic Q99487 PAFA2_HUMAN true false Enzyme Homo_sapiens PAFAH2 392 44035.255 6.887 Involved in 1-alkyl-2-acetylglycerophosphocholine esterase activity Has a marked selectivity for phospholipids with short acyl chains at the sn-2 position. May share a common physiologic function with the plasma-type enzyme. AL592064 55859645 PAFAH2 1 1p36 PAFAH2 HGNC:8579 true hsa:5051 NP_000428.2:NM_000437.3 Broadly expressed in different tissues, but high in B- and T-lymphocytes. In brain, expression is restricted to amygdala and frontal cortex. Monomer 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 509 CDBP00508 Sialate O-acetylesterase Q9HAT2 SIAE_HUMAN true false Enzyme Homo_sapiens SIAE 523 54572.035 7.323 Involved in sialate O-acetylesterase activity Catalyzes the removal of O-acetyl ester groups from position 9 of the parent sialic acid, N-acetylneuraminic acid. NM_170601.3 24850115 SIAE 11 11q24 SIAE HGNC:18187 true hsa:54414 NP_001186851.1:NM_001199922.1;NP_733746.1:NM_170601.4 Widely expressed with high expression in the testis, prostate, and colon. 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 510 CDBP00509 Arylacetamide deacetylase P22760 AAAD_HUMAN true false Enzyme Homo_sapiens AADAC 399 45733.28 8.692 Involved in hydrolase activity Arylacetamide deacetylation is an important enzyme activity in the metabolic activation of arylamine substrates to ultimate carcinogens. Displays major serine hydrolase activity in liver microsomes. Hydrolyzes also flutamide, which is an antiandrogen drug used for the treatment of prostate cancer that occasionally causes severe hepatotoxicity. Displays cellular triglyceride lipase activity in liver. Increases intracellular fatty acids derived from hydrolysis of newly formed triglyceride stores. AK290628 158254688 AADAC 3 3q25.1 AADAC HGNC:17 true hsa:13 NP_001077.2:NM_001086.2 Mainly expressed in liver, small intestine, colon and adrenal gland. 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 511 CDBP00510 Acyloxyacyl hydrolase P28039 AOAH_HUMAN true false Enzyme Homo_sapiens AOAH 575 65104.0 8.24 Involved in hydrolase activity Removes the secondary (acyloxyacyl-linked) fatty acyl chains from the lipid A region of bacterial lipopolysaccharides ["1-23"] ["None"] AK223476 62898684 AOAH Chromosome:7 7p14-p12 AOAH HGNC:548 true 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 512 CDBP00511 Cystathionine gamma-lyase P32929 CGL_HUMAN true false Enzyme Homo_sapiens CTH 405 41259.91 6.861 Involved in pyridoxal phosphate binding Catalyzes the last step in the trans-sulfuration pathway from methionine to cysteine. Has broad substrate specificity. Converts cystathionine to cysteine, ammonia and 2-oxobutanoate. Converts two cysteine molecules to lanthionine and hydrogen sulfide. Can also accept homocysteine as substrate. Specificity depends on the levels of the endogenous substrates. Generates the endogenous signaling molecule hydrogen sulfide (H2S), and so contributes to the regulation of blood pressure. Acts as a cysteine-protein sulfhydrase by mediating sulfhydration of target proteins: sulfhydration consists of converting -SH groups into -SSH on specific cysteine residues of target proteins such as GAPDH, PTPN1 and NF-kappa-B subunit RELA, thereby regulating their function. 2NMP;3COG;3ELP AK223376 62898313 CTH 1 1p31.1 CTH HGNC:2501 true hsa:1491 NP_001177392.1:NM_001190463.1;NP_001893.2:NM_001902.5;NP_714964.2:NM_153742.4 Pyridoxal phosphate Homotetramer. Interacts with CALM in a calcium-dependent manner 2020-06-12T23:06:50Z 2020-07-28T02:25:33Z 0 0 1 513 CDBP00512 D-beta-hydroxybutyrate dehydrogenase, mitochondrial Q02338 BDH_HUMAN true false Enzyme Homo_sapiens BDH1 343 38156.77 8.949 Involved in oxidoreductase activity BC005844 13543367 BDH1 3 3q29 BDH1 HGNC:1027 true hsa:622 HS08579-MONOMER NP_004042.1:NM_004051.4;NP_976059.1:NM_203314.2;NP_976060.1:NM_203315.2 Homotetramer 2020-06-12T23:06:50Z 2020-07-28T02:25:33Z 0 0 0 514 CDBP00513 Aldehyde dehydrogenase family 3 member B2 P48448 AL3B2_HUMAN true false Enzyme Homo_sapiens ALDH3B2 385 42623.62 6.031 Involved in oxidoreductase activity AK092464 21751068 ALDH3B2 11 11q13 ALDH3B2 HGNC:411 true hsa:222 NP_000686.2:NM_000695.3;NP_001026786.1:NM_001031615.1 Salivary gland. 2020-06-12T23:06:50Z 2020-07-28T02:25:33Z 0 0 0 515 CDBP00514 Aldehyde dehydrogenase family 3 member B1 P43353 AL3B1_HUMAN true false Enzyme Homo_sapiens ALDH3B1 468 51839.245 7.615 Involved in oxidoreductase activity Oxidizes medium and long chain saturated and unsaturated aldehydes. Metabolizes also benzaldehyde. Low activity towards acetaldehyde and 3,4-dihydroxyphenylacetaldehyde. May not metabolize short chain aldehydes. May use both NADP(+) and NAD(+) as cofactors. May have a protective role against the cytotoxicity induced by lipid peroxidation. U10868 158256442 ALDH3B1 11 11q13 ALDH3B1 HGNC:410 true hsa:221 NP_000685.1:NM_000694.2;NP_001025181.1:NM_001030010.1;NP_001154945.1:NM_001161473.1 Highest expression in kidney and lung. 2020-06-12T23:06:50Z 2020-07-28T02:25:33Z 0 0 0 516 CDBP00515 Dihydropyrimidinase Q14117 DPYS_HUMAN true false Enzyme Homo_sapiens DPYS 519 56629.36 7.263 Involved in hydrolase activity Catalyzes the second step of the reductive pyrimidine degradation, the reversible hydrolytic ring opening of dihydropyrimidines. Can catalyze the ring opening of 5,6-dihydrouracil to N-carbamyl-alanine and of 5,6-dihydrothymine to N-carbamyl-amino isobutyrate. 2VR2 AB004678 3608122 DPYS 8 8q22 DPYS HGNC:3013 true hsa:1807 NP_001376.1:NM_001385.2 Liver and kidney. zinc ions Homotetramer (Probable) 2020-06-12T23:06:50Z 2020-07-28T02:25:33Z 0 1 0 517 CDBP00516 Beta-ureidopropionase Q9UBR1 BUP1_HUMAN true false Enzyme Homo_sapiens UPB1 384 43165.705 6.53 Involved in hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds Converts N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta-alanine to, respectively, beta-aminoisobutyric acid and beta-alanine, ammonia and carbon dioxide. AB013885 6635205 UPB1 22 22q11.2 UPB1 HGNC:16297 true hsa:51733 NP_057411.1:NM_016327.2 zinc ion 2020-06-12T23:06:50Z 2020-07-28T02:25:33Z 0 1 0 518 CDBP00517 Dihydropteridine reductase P09417 DHPR_HUMAN true false Enzyme Homo_sapiens QDPR 244 25789.295 7.367 Involved in oxidoreductase activity The product of this enzyme, tetrahydrobiopterin (BH-4), is an essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases. 1HDR X04882 30819 QDPR 4 4p15.31 QDPR HGNC:9752 true hsa:5860 HS07746-MONOMER NP_000311.2:NM_000320.2 Homodimer 2020-06-12T23:06:50Z 2020-07-28T02:25:33Z 0 0 0 519 CDBP00518 Biotinidase P43251 BTD_HUMAN true false Enzyme Homo_sapiens BTD 543 61132.43 6.254 Involved in hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation. NM_000060.2 4557373 BTD 3 3p25 BTD HGNC:1122 true hsa:686 NP_000051.1:NM_000060.2 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 520 CDBP00519 Estradiol 17-beta-dehydrogenase 11 Q8NBQ5 DHB11_HUMAN true false Enzyme Homo_sapiens HSD17B11 300 32935.525 9.07 Involved in oxidoreductase activity Can convert androstan-3-alpha,17-beta-diol (3-alpha-diol) to androsterone in vitro, suggesting that it may participate in androgen metabolism during steroidogenesis. May act by metabolizing compounds that stimulate steroid synthesis and/or by generating metabolites that inhibit it. Has no activity toward DHEA (dehydroepiandrosterone), or A-dione (4-androste-3,17-dione), and only a slight activity toward testosterone to A-dione. Tumor-associated antigen in cutaneous T-cell lymphoma. 1YB1 NM_016245.3 142976729 HSD17B11 4 4q22.1 HSD17B11 HGNC:22960 true hsa:51170 NP_057329.2:NM_016245.3 Present at high level in steroidogenic cells such as syncytiotrophoblasts, sebaceous gland, Leydig cells, and granulosa cells of the dominant follicle and corpus luteum. In lung, it is detected in the ciliated epithelium and in acini of adult trachea, in bronchioles, but not in alveoli. In the eye, it is detected in the nonpigmented epithelium of the ciliary body and, at lower level, in the inner nuclear layer of the retina (at protein level). Widely expressed. Highly expressed in retina, pancreas, kidney, liver, lung, adrenal, small intestine, ovary and heart. 2020-06-12T23:06:50Z 2020-07-28T02:25:33Z 0 0 0 521 CDBP00520 7-dehydrocholesterol reductase Q9UBM7 DHCR7_HUMAN true false Enzyme Homo_sapiens DHCR7 475 54488.98 8.704 Involved in 7-dehydrocholesterol reductase activity Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC). AF096305 4191398 DHCR7 11 11q13.4 DHCR7 HGNC:2860 true hsa:1717 HS10588-MONOMER NP_001157289.1:NM_001163817.1;NP_001351.2:NM_001360.2 Most abundant in adrenal gland, liver, testis, and brain. 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 522 CDBP00521 Bile acid-CoA:amino acid N-acyltransferase Q14032 BAAT_HUMAN true false Enzyme Homo_sapiens BAAT 418 46298.865 6.996 Involved in thiolester hydrolase activity Involved in bile acid metabolism. In liver hepatocytes catalyzes the second step in the conjugation of C24 bile acids (choloneates) to glycine and taurine before excretion into bile canaliculi. The major components of bile are cholic acid and chenodeoxycholic acid. In a first step the bile acids are converted to an acyl-CoA thioester, either in peroxisomes (primary bile acids deriving from the cholesterol pathway), or cytoplasmic at the endoplasmic reticulum (secondary bile acids). May catalyze the conjugation of primary or secondary bile acids, or both. The conjugation increases the detergent properties of bile acids in the intestine, which facilitates lipid and fat-soluble vitamin absorption. In turn, bile acids are deconjugated by bacteria in the intestine and are recycled back to the liver for reconjugation (secondary bile acids). May also act as an acyl-CoA thioesterase that regulates intracellular levels of free fatty acids. In vitro, catalyzes the hydrolysis of long- and very long-chain saturated acyl-CoAs to the free fatty acid and coenzyme A (CoASH), and conjugates glycine to these acyl-CoAs. L34081 BAAT 9 9q22.3 BAAT HGNC:932 true hsa:570 NP_001121082.1:NM_001127610.1;NP_001692.1:NM_001701.3 Expressed in liver, gallbladder mucosa and pancreas. Monomer 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 523 CDBP00522 3-oxo-5-beta-steroid 4-dehydrogenase P51857 AK1D1_HUMAN true false Enzyme Homo_sapiens AKR1D1 326 32889.38 6.619 Involved in oxidoreductase activity Efficiently catalyzes the reduction of progesterone, androstenedione, 17-alpha-hydroxyprogesterone and testosterone to 5-beta-reduced metabolites. The bile acid intermediates 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one and 7-alpha-hydroxy-4-cholesten-3-one can also act as substrates. 3BUR;3BUV;3BV7;3CAQ;3CAS;3CAV;3CMF;3COT;3DOP;3G1R;3UZW;3UZX;3UZY;3UZZ Z28339 431857 AKR1D1 7 7q32-q33 AKR1D1 HGNC:388 true hsa:6718 NP_001177835.1:NM_001190906.1;NP_001177836.1:NM_001190907.1;NP_005980.1:NM_005989.3 Highly expressed in liver. Expressed in testis and weakly in colon. 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 524 CDBP00523 Acylphosphatase-2 P14621 ACYP2_HUMAN true false Enzyme Homo_sapiens ACYP2 99 11139.52 9.496 Involved in acylphosphatase activity Its physiological role is not yet clear. BC012290 15341747 ACYP2 2 2p16.2 ACYP2 HGNC:180 true hsa:98 NP_612457.1:NM_138448.3 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 525 CDBP00524 Acylphosphatase-1 P07311 ACYP1_HUMAN true false Enzyme Homo_sapiens ACYP1 99 11260.84 9.312 Involved in acylphosphatase activity Its physiological role is not yet clear. 2K7J;2K7K;2VH7;2W4C;2W4P;3TOQ AC007055 4885693 ACYP1 14 14q24.3 ACYP1 HGNC:179 true hsa:97 NP_001098.1:NM_001107.3;NP_982355.1:NM_203488.1 Organ-common type isozyme is found in many different tissues. 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 526 CDBP00525 Aminoacylase-1 Q03154 ACY1_HUMAN true false Enzyme Homo_sapiens ACY1 408 45884.705 6.174 Involved in metallopeptidase activity Involved in the hydrolysis of N-acylated or N-acetylated amino acids (except L-aspartate). 1Q7L L07548 178071 ACY1 3 3p21.1 ACY1 HGNC:177 true hsa:95 HS03800-MONOMER NP_000657.1:NM_000666.2;NP_001185824.1:NM_001198895.1;NP_001185825.1:NM_001198896.1;NP_001185826.1:NM_001198897.1;NP_001185827.1:NM_001198898.1 Expression is highest in kidney, strong in brain and weaker in placenta and spleen. zinc ions Homodimer. Interacts with SPHK1 2020-06-12T23:06:50Z 2020-07-28T02:25:34Z 0 1 0 527 CDBP00526 Aspartoacylase P45381 ACY2_HUMAN true false Enzyme Homo_sapiens ASPA 313 35734.79 6.522 Involved in hydrolase activity, acting on ester bonds Catalyzes the deacetylation of N-acetylaspartic acid (NAA) to produce acetate and L-aspartate. NAA occurs in high concentration in brain and its hydrolysis NAA plays a significant part in the maintenance of intact white matter. In other tissues it act as a scavenger of NAA from body fluids. 2I3C;2O4H;2O53;2Q51 S67156 ASPA 17 17p13.3 ASPA HGNC:756 true hsa:443 HS03094-MONOMER NP_000040.1:NM_000049.2;NP_001121557.1:NM_001128085.1 Brain white matter, skeletal muscle, kidney, adrenal glands, lung and liver. zinc ion Homodimer (Probable) 2020-06-12T23:06:50Z 2020-07-28T02:25:34Z 0 1 0 528 CDBP00527 Platelet-activating factor acetylhydrolase IB subunit alpha P43034 LIS1_HUMAN true false Enzyme Homo_sapiens PAFAH1B1 410 46637.7 7.4 Involved in dynactin binding Required for proper activation of Rho GTPases and actin polymerization at the leading edge of locomoting cerebellar neurons and postmigratory hippocampal neurons in response to calcium influx triggered via NMDA receptors. Non-catalytic subunit of an acetylhydrolase complex which inactivates platelet- activating factor (PAF) by removing the acetyl group at the SN-2 position. Positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule sliding by targeting dynein to the microtubule plus end. Required for several dynein- and microtubule-dependent processes such as the maintenance of Golgi integrity, the peripheral transport of microtubule fragments and the coupling of the nucleus and centrosome. Required during brain development for the proliferation of neuronal precursors and the migration of newly formed neurons from the ventricular/subventricular zone toward the cortical plate. Neuronal migration involves a process called nucleokinesis, whereby migrating cells extend an anterior process into which the nucleus subsequently translocates. During nucleokinesis dynein at the nuclear surface may translocate the nucleus towards the centrosome by exerting force on centrosomal microtubules. May also play a role in other forms of cell locomotion including the migration of fibroblasts during wound healing ["None"] ["None"] 1UUJ L13385 PAFAH1B1 Chromosome:1 17p13.3 PAFAH1B1 HGNC:8574 true 2020-06-12T23:06:50Z 2020-07-28T02:25:34Z 0 0 0 529 CDBP00528 N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase Q9Y2B2 PIGL_HUMAN true false Enzyme Homo_sapiens PIGL 252 28530.965 8.111 Involved in N-acetylglucosaminylphosphatidylinositol de Involved in the second step of GPI biosynthesis. De-N-acetylation of N-acetylglucosaminyl-phosphatidylinositol. AB017165 4239986 PIGL 17 17p12-p11.2 PIGL HGNC:8966 true hsa:9487 NP_004269.1:NM_004278.3 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 530 CDBP00529 Aspartoacylase-2 Q96HD9 ACY3_HUMAN true false Enzyme Homo_sapiens ACY3 319 Involved in hydrolase activity, acting on ester bonds Plays an important role in deacetylating mercapturic acids in kidney proximal tubules (By similarity). AY040761 ACY3 ACY3 HGNC:24104 true hsa:91703 HS13441-MONOMER NP_542389.1:NM_080658.1 zinc ion Homotetramer . Interacts with HCV core protein 2020-06-12T23:06:50Z 2020-07-28T02:25:34Z 0 1 0 531 CDBP00530 Betaine--homocysteine S-methyltransferase 1 Q93088 BHMT1_HUMAN true false Enzyme Homo_sapiens BHMT 406 44998.205 7.03 Involved in zinc ion binding Involved in the regulation of homocysteine metabolism. Converts betaine and homocysteine to dimethylglycine and methionine, respectively. This reaction is also required for the irreversible oxidation of choline. 1LT7;1LT8 AF118378 4530461 BHMT 5 5q14.1 BHMT HGNC:1047 true hsa:635 NP_001704.2:NM_001713.2 Found exclusively in liver and kidney. zinc ion Homotetramer 2020-06-12T23:06:50Z 2020-07-28T02:25:34Z 0 1 0 532 CDBP00531 Ubiquitin-conjugating enzyme E2 A P49459 UBE2A_HUMAN true false Enzyme Homo_sapiens UBE2A 152 17315.265 5.147 Involved in acid-amino acid ligase activity Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In association with the E3 enzyme BRE1 (RNF20 and/or RNF40), it plays a role in transcription regulation by catalyzing the monoubiquitination of histone H2B at 'Lys-120' to form H2BK120ub1. H2BK120ub1 gives a specific tag for epigenetic transcriptional activation, elongation by RNA polymerase II, telomeric silencing, and is also a prerequisite for H3K4me and H3K79me formation. In vitro catalyzes 'Lys-11', as well as 'Lys-48'-linked polyubiquitination. Required for postreplication repair of UV-damaged DNA. NM_003336.2 32967280 UBE2A X Xq24 UBE2A HGNC:12472 true hsa:7319 NP_003327.2:NM_003336.2;NP_861427.1:NM_181762.1;NP_861442.1:NM_181777.1 Interacts with RAD18 and WAC 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 533 CDBP00532 Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma Q13956 CNCG_HUMAN true false Enzyme Homo_sapiens PDE6H 83 9074.36 9.248 Involved in 3',5'-cyclic-nucleotide phosphodiesterase activity Participates in processes of transmission and amplification of the visual signal. cGMP-PDEs are the effector molecules in G-protein-mediated phototransduction in vertebrate rods and cones. D45399 PDE6H 12 12p13 PDE6H HGNC:8790 true hsa:5149 NP_006196.1:NM_006205.2 Tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma) 2020-06-12T23:06:50Z 2020-07-28T02:25:35Z 1 0 0 534 CDBP00533 Adenylate kinase isoenzyme 1 P00568 KAD1_HUMAN true false Enzyme Homo_sapiens AK1 194 21634.725 8.627 Involved in ATP binding Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Small ubiquitous enzyme involved in energy metabolism and nucleotide synthesis that is essential for maintenance and cell growth. 1Z83;2C95 AB021871 AK1 9 9q34.1 AK1 HGNC:361 true hsa:203 NP_000467.1:NM_000476.2 Monomer 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 535 CDBP00534 NEDD8-conjugating enzyme Ubc12 P61081 UBC12_HUMAN true false Enzyme Homo_sapiens UBE2M 183 20899.8 7.695 Involved in ATP binding Accepts the ubiquitin-like protein NEDD8 from the UBA3-NAE1 E1 complex and catalyzes its covalent attachment to other proteins. The specific interaction with the E3 ubiquitin ligase RBX1, but not RBX2, suggests that the RBX1-UBE2M complex neddylates specific target proteins, such as CUL1, CUL2, CUL3 and CUL4. Involved in cell proliferation. 1TT5;1Y8X;2NVU;3TDU;3TDZ;4GAO AB012191 3599674 UBE2M 19 19q13.43 UBE2M HGNC:12491 true hsa:9040 NP_003960.1:NM_003969.3 Interacts with UBA3, DCUN1D1 and RBX1 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 536 CDBP00535 Ubiquitin/ISG15-conjugating enzyme E2 L6 O14933 UB2L6_HUMAN true false Enzyme Homo_sapiens UBE2L6 153 17768.52 7.884 Involved in acid-amino acid ligase activity Catalyzes the covalent attachment of ubiquitin or ISG15 to other proteins. Functions in the E6/E6-AP-induced ubiquitination of p53/TP53. Promotes ubiquitination and subsequent proteasomal degradation of FLT3. 1WZV;1WZW;2KJH NM_004223.3 4759282 UBE2L6 11 11q12 UBE2L6 HGNC:12490 true hsa:9246 NP_004214.1:NM_004223.4;NP_937826.1:NM_198183.2 Present in natural killer cells (at protein level). Interacts with RNF19A, RNF19B and RNF144B. Interacts with FLT3 (tyrosine phosphorylated) 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 537 CDBP00536 Glycine--tRNA ligase P41250 SYG_HUMAN true false Enzyme Homo_sapiens GARS 739 83164.83 7.036 Involved in nucleotide binding Catalyzes the attachment of glycine to tRNA(Gly). Is also able produce diadenosine tetraphosphate (Ap4A), a universal pleiotropic signaling molecule needed for cell regulation pathways, by direct condensation of 2 ATPs. 2PME;2PMF;2Q5H;2Q5I;2ZT5;2ZT6;2ZT7;2ZT8;2ZXF D30658 GARS 7 7p15 GARS HGNC:4162 true hsa:2617 NP_002038.2:NM_002047.2 Widely expressed, including brain and spinal cord. Homodimer 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 538 CDBP00537 Ribose-phosphate pyrophosphokinase 3 P21108 PRPS3_HUMAN true false Enzyme Homo_sapiens PRPS1L1 318 34838.915 6.353 Involved in magnesium ion binding Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis. BC062797 110611809 PRPS1L1 7 7p21.1 PRPS1L1 HGNC:9463 true hsa:221823 NP_787082.1:NM_175886.2 Testis. Magnesium Homodimer. The active form is probably a hexamer composed of 3 homodimers 2020-06-12T23:06:50Z 2020-07-28T02:25:35Z 0 1 0 539 CDBP00538 Bifunctional glutamate/proline--tRNA ligase P07814 SYEP_HUMAN true false Enzyme Homo_sapiens EPRS 1512 170589.705 7.321 Involved in nucleotide binding Catalyzes the attachment of the cognate amino acid to the corresponding tRNA in a two-step reaction: the amino acid is first activated by ATP to form a covalent intermediate with AMP and is then transferred to the acceptor end of the cognate tRNA. Component of the GAIT (gamma interferon-activated inhibitor of translation) complex which mediates interferon-gamma-induced transcript-selective translation inhibition in inflammation processes. Upon interferon-gamma activation and subsequent phosphorylation dissociates from the multisynthetase complex and assembles into the GAIT complex which binds to stem loop-containing GAIT elements in the 3'-UTR of diverse inflammatory mRNAs (such as ceruplasmin) and suppresses their translation. 1FYJ;4HVC CR933648 EPRS 1 1q41 EPRS HGNC:3418 true hsa:2058 NP_004437.2:NM_004446.2 Component of the multisynthetase complex which is comprised of a bifunctional glutamyl-prolyl-tRNA synthetase, the monospecific isoleucyl, leucyl, glutaminyl, methionyl, lysyl, arginyl, and aspartyl-tRNA synthetases as well as three auxiliary proteins, p18, p48 and p43. Interacts with DUS2L. Component of the GAIT complex; in humans the complex assembly seems to be a two-step process in which EPRS first associates with SYNCRIP to form a pre-GAIT complex which is deficient in GAIT element binding 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 540 CDBP00539 Long-chain-fatty-acid--CoA ligase 4 O60488 ACSL4_HUMAN true false Enzyme Homo_sapiens ACSL4 711 74435.495 8.038 Involved in catalytic activity Activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Preferentially uses arachidonate and eicosapentaenoate as substrates. NM_022977.2 12669909 ACSL4 X Xq22.3-q23 ACSL4 HGNC:3571 true hsa:2182 NP_004449.1:NM_004458.2;NP_075266.1:NM_022977.2 Magnesium 2020-06-12T23:06:50Z 2020-07-28T02:25:36Z 0 0 0 541 CDBP00540 Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A P54750 PDE1A_HUMAN true false Enzyme Homo_sapiens PDE1A 535 61251.38 6.1 Involved in catalytic activity Cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes. Has a higher affinity for cGMP than for cAMP. 1LXQ U40370 1151109 PDE1A 2 2q32.1 PDE1A HGNC:8774 true hsa:5136 NP_001003683.1:NM_001003683.2;NP_001245242.1:NM_001258313.1;NP_001245243.1:NM_001258314.1;NP_005010.2:NM_005019.4 Several tissues, including brain, kidney, testes and heart. divalent metal cations . Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions Homodimer 2020-06-12T23:06:50Z 2020-07-28T02:25:36Z 1 1 0 542 CDBP00541 Ubiquitin-conjugating enzyme E2 D1 P51668 UB2D1_HUMAN false false Enzyme Homo_sapiens UBE2D1 147 16601.86 7.417 Involved in acid-amino acid ligase activity Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-48'-linked polyubiquitination. Mediates the selective degradation of short-lived and abnormal proteins. Functions in the E6/E6-AP-induced ubiquitination of p53/TP53. Mediates ubiquitination of PEX5 and auto-ubiquitination of STUB1, TRAF6 and TRIM63/MURF1. Ubiquitinates STUB1-associated HSP90AB1 in vitro. Lacks inherent specificity for any particular lysine residue of ubiquitin. Essential for viral activation of IRF3. Mediates polyubiquitination of CYP3A4. 2C4P;2YHO;3OJ4;3PTF;4AP4 NM_003338.3 4507773 UBE2D1 10 10q21.1 UBE2D1 HGNC:12474 true hsa:7321 NP_003329.1:NM_003338.4 Ubiquitous. Up-regulated in livers of iron-overloaded patients with hereditary hemochromatosis. Component of a E3 ubiquitin ligase complex containing UBE2D1, SIAH1, CACYBP/SIP, SKP1, APC and TBL1X. Interacts with RNF11 2020-06-12T23:06:50Z 2020-07-28T02:33:18Z 1 0 1 543 CDBP00542 GTP:AMP phosphotransferase, mitochondrial Q9UIJ7 KAD3_HUMAN true false Enzyme Homo_sapiens AK3 227 21013.93 9.522 Involved in ATP binding 1ZD8 AB021870 6518533 AK3 9 9p24.1 AK3 HGNC:17376 true hsa:50808 NP_001186781.1:NM_001199852.1;NP_001186782.1:NM_001199853.1;NP_001186784.1:NM_001199855.1;NP_001186785.1:NM_001199856.1;NP_057366.2:NM_016282.3 Monomer 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 544 CDBP00543 Tryptophan--tRNA ligase, cytoplasmic P23381 SYWC_HUMAN true false Enzyme Homo_sapiens WARS 471 53164.91 6.232 Involved in nucleotide binding Isoform 1, isoform 2 and T1-TrpRS have aminoacylation activity while T2-TrpRS lacks it. Isoform 2, T1-TrpRS and T2-TrpRS possess angiostatic activity whereas isoform 1 lacks it. T2-TrpRS inhibits fluid shear stress-activated responses of endothelial cells. Regulates ERK, Akt, and eNOS activation pathways that are associated with angiogenesis, cytoskeletal reorganization and shear stress-responsive gene expression. 1O5T;1R6T;1R6U;1ULH;2AKE;2AZX;2DR2;2QUH;2QUI;2QUJ;2QUK M77804 184657 WARS 14 14q32.31 WARS HGNC:12729 true hsa:7453 NP_004175.2:NM_004184.3;NP_776049.1:NM_173701.1;NP_998810.1:NM_213645.1;NP_998811.1:NM_213646.1 Homodimer. Isoform 1 and isoform 2 interact with an oxidized form of GAPDH. GAPDH stimulates the aminoacylation activity of isoform 2 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 545 CDBP00544 High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A O60658 PDE8A_HUMAN true false Enzyme Homo_sapiens PDE8A 829 86047.88 6.0 Involved in catalytic activity Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May be involved in maintaining basal levels of the cyclic nucleotide and/or in the cAMP regulation of germ cell development. 1LHQ;1LXX;3ECM;3ECN AF388183 PDE8A 15 15q25.3 PDE8A HGNC:8793 true hsa:5151 NP_001230066.1:NM_001243137.1;NP_002596.1:NM_002605.2;NP_775656.1:NM_173454.1 Expressed in most tissues except thymus and peripheral blood leukocytes. Highest levels in testis, ovary, small intestine and colon. divalent metal cations . Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions 2020-06-12T23:06:50Z 2020-07-28T02:25:36Z 0 1 1 546 CDBP00545 Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B Q01064 PDE1B_HUMAN true false Enzyme Homo_sapiens PDE1B 536 61379.235 5.517 Involved in catalytic activity Cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes. Has a preference for cGMP as a substrate. 1LXR;1TAZ U56976 PDE1B 12 12q13 PDE1B HGNC:8775 true hsa:5153 NP_000915.1:NM_000924.3;NP_001159447.1:NM_001165975.2 divalent metal cations . Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions Homodimer 2020-06-12T23:06:50Z 2020-07-28T02:25:36Z 1 1 0 547 CDBP00546 Long-chain-fatty-acid--CoA ligase 1 P33121 ACSL1_HUMAN true false Enzyme Homo_sapiens ACSL1 698 77942.685 7.148 Involved in catalytic activity Activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Preferentially uses palmitoleate, oleate and linoleate. D10040 ACSL1 4 4q35 ACSL1 HGNC:3569 true hsa:2180 HS07766-MONOMER NP_001986.2:NM_001995.2 Highly expressed in liver, heart, skeletal muscle, kidney and erythroid cells, and to a lesser extent in brain, lung, placenta and pancreas. Magnesium 2020-06-12T23:06:50Z 2020-07-28T02:25:37Z 0 0 0 548 CDBP00547 cGMP-inhibited 3',5'-cyclic phosphodiesterase B Q13370 PDE3B_HUMAN true false Enzyme Homo_sapiens PDE3B 1112 124332.145 5.904 Involved in catalytic activity Cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes. May play a role in fat metabolism. Regulates cAMP binding of RAPGEF3. Through simultaneous binding to RAPGEF3 and PIK3R6 assembles a signaling complex in which the PI3K gamma complex is activated by RAPGEF3 and which is involved in angiogenesis. 1SO2;1SOJ X95520 1246755 PDE3B 11 11p15.1 PDE3B HGNC:8779 true hsa:5140 NP_000913.2:NM_000922.3 Abundant in adipose tissues. divalent metal cations . Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions Interacts with PIK3CG . Interacts with RAPGEF3 and PIK3R6 2020-06-12T23:06:50Z 2020-07-28T02:25:37Z 1 1 0 549 CDBP00548 Ubiquitin-conjugating enzyme E2 G1 P62253 UB2G1_HUMAN true false Enzyme Homo_sapiens UBE2G1 170 19509.035 5.301 Involved in acid-amino acid ligase activity Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-48'-, as well as 'Lys-63'-linked polyubiquitination. May be involved in degradation of muscle-specific proteins. Mediates polyubiquitination of CYP3A4. 2AWF D78514 UBE2G1 17 17p13.2 UBE2G1 HGNC:12482 true hsa:7326 NP_003333.1:NM_003342.4 Widely expressed, mainly in skeletal muscle. 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 550 CDBP00549 Glutamine--tRNA ligase P47897 SYQ_HUMAN true false Enzyme Homo_sapiens QARS 775 87797.97 7.152 Involved in nucleotide binding X76013 558586 QARS 3 3p21.31 QARS HGNC:9751 true hsa:5859 NP_005042.1:NM_005051.1 Part of a multisubunit complex that groups tRNA ligases for Arg, Asp, Glu, Gln, Ile, Leu, Lys, Met and Pro 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 551 CDBP00550 Threonine--tRNA ligase, cytoplasmic P26639 SYTC_HUMAN true false Enzyme Homo_sapiens TARS 723 83434.5 6.664 Involved in nucleotide binding 1WWT AK292346 158258124 TARS 5 5p13.2 TARS HGNC:11572 true hsa:6897 NP_001245366.1:NM_001258437.1;NP_001245367.1:NM_001258438.1;NP_689508.3:NM_152295.4 Homodimer 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 552 CDBP00551 Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' P51160 PDE6C_HUMAN true false Enzyme Homo_sapiens PDE6C 858 99146.095 5.713 Involved in catalytic activity AL157396 55661526 PDE6C 10 10q24 PDE6C HGNC:8787 true hsa:5146 NP_006195.3:NM_006204.3 divalent metal cations . Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions Composed of two alpha' subunits that are associated with 3 smaller proteins of 11, 13, and 15 kDa 2020-06-12T23:06:50Z 2020-07-28T02:25:38Z 0 1 0 553 CDBP00552 Asparagine synthetase [glutamine-hydrolyzing] P08243 ASNS_HUMAN true false Enzyme Homo_sapiens ASNS 561 62167.855 7.065 Involved in asparagine synthase (glutamine-hydrolyzing) activity M27396 179100 ASNS 7 7q21.3 ASNS HGNC:753 true hsa:440 NP_001171546.1:NM_001178075.1;NP_001171547.1:NM_001178076.1;NP_001171548.1:NM_001178077.1;NP_001664.3:NM_001673.4;NP_597680.2:NM_133436.3;NP_899199.2:NM_183356.3 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 554 CDBP00553 Ubiquitin-conjugating enzyme E2 E2 Q96LR5 UB2E2_HUMAN true false Enzyme Homo_sapiens UBE2E2 201 22254.87 7.705 Involved in acid-amino acid ligase activity Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-11'- and 'Lys-48'-, as well as 'Lys-63'-linked polyubiquitination. 1Y6L AK057886 16553859 UBE2E2 3 3p24.2 UBE2E2 HGNC:12478 true hsa:7325 NP_689866.1:NM_152653.3 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 555 CDBP00554 Adenylosuccinate lyase P30566 PUR8_HUMAN true false Enzyme Homo_sapiens ADSL 484 54888.735 7.112 Involved in catalytic activity 2J91;2VD6;4FFX;4FLC X65867 28904 ADSL 22 22q13.2 ADSL HGNC:291 true hsa:158 NP_000017.1:NM_000026.2;NP_001116850.1:NM_001123378.1 Ubiquitously expressed. Both isoforms are produced by all tissues. Isoform 2 is 10-fold less abundant than isoform 1. 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 556 CDBP00555 Adenylate kinase isoenzyme 4, mitochondrial P27144 KAD4_HUMAN true false Enzyme Homo_sapiens AK4 223 25267.83 8.394 Involved in ATP binding Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. May also be active with GTP (By similarity). 2AR7;2BBW;3NDP AK313611 189069342 AK4 1 1p31.3 AK4 HGNC:363 true hsa:205 NP_001005353.1:NM_001005353.2;NP_037542.1:NM_013410.3;NP_982289.1:NM_203464.2;XP_003119578.1:XM_003119530.1 Monomer 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 557 CDBP00556 Ubiquitin-conjugating enzyme E2 D2 P62837 UB2D2_HUMAN true false Enzyme Homo_sapiens UBE2D2 147 16735.06 7.823 Involved in acid-amino acid ligase activity Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-48'-linked polyubiquitination. Mediates the selective degradation of short-lived and abnormal proteins. Functions in the E6/E6-AP-induced ubiquitination of p53/TP53. Mediates ubiquitination of PEX5 and autoubiquitination of STUB1 and TRAF6. Involved in the signal-induced conjugation and subsequent degradation of NFKBIA, FBXW2-mediated GCM1 ubiquitination and degradation, MDM2-dependent degradation of p53/TP53 and the activation of MAVS in the mitochondria by DDX58/RIG-I in response to viral infection. Essential for viral activation of IRF3. 1UR6;1W4U;2C4O;2CLW;2ESK;2ESO;2ESP;2ESQ;3A33;3JVZ;3JW0;3L1Y;3TGD;4A49;4A4B;4A4C;4AUQ U39317 UBE2D2 5 5q31.2 UBE2D2 HGNC:12475 true hsa:7322 NP_003330.1:NM_003339.2;NP_862821.1:NM_181838.1 Interacts with PDZRN3 . Interacts with SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complex. Interacts with CNOT4 (via RING domain). Interacts with E3 ubiquitin-protein ligases PJA1 and PJA2 2020-06-12T23:06:50Z 2020-07-28T02:25:38Z 0 0 1 558 CDBP00557 DNA ligase 4 P49917 DNLI4_HUMAN true false Enzyme Homo_sapiens LIG4 911 103969.85 7.959 Involved in DNA ligase (ATP) activity Efficiently joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. The LIG4-XRCC4 complex is responsible for the NHEJ ligation step, and XRCC4 enhances the joining activity of LIG4. Binding of the LIG4-XRCC4 complex to DNA ends is dependent on the assembly of the DNA-dependent protein kinase complex DNA-PK to these DNA ends. 1IK9;2E2W;3II6;3VNN;4HTO;4HTP NM_001098268.1 148539894 LIG4 13 13q33-q34 LIG4 HGNC:6601 true hsa:3981 NP_001091738.1:NM_001098268.1;NP_002303.2:NM_002312.3;NP_996820.1:NM_206937.1 Testis, thymus, prostate and heart. Magnesium Binds to XRCC4. The LIG4-XRCC4 complex has probably a 1:2 stoichiometry. The LIG4-XRCC4 heteromer associates in a DNA-dependent manner with the DNA-dependent protein kinase complex DNA-PK, formed by the Ku p70/p86 dimer (G22P1/G22P2) and PRKDC. Interacts with APLF 2020-06-12T23:06:50Z 2020-07-28T02:25:39Z 1 1 0 559 CDBP00558 High affinity cAMP-specific 3',5'-cyclic phosphodiesterase 7A Q13946 PDE7A_HUMAN true false Enzyme Homo_sapiens PDE7A 482 55504.475 7.497 Involved in 3',5'-cyclic-AMP phosphodiesterase activity Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May have a role in muscle signal transduction. 1ZKL;3G3N L12052 PDE7A 8 8q13 HGNC:8791 true hsa:5150 NP_001229247.1:NM_001242318.2;NP_002594.1:NM_002603.3 PDE7A1 is found at high levels in skeletal muscle and at low levels in a variety of tissues including brain and heart. It is expressed as well in two T-cell lines. PDE7A2 is found abundantly in skeletal muscle and at low levels in heart. divalent metal cations . Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions Interacts with CBFA2T3 2020-06-12T23:06:50Z 2020-07-28T02:25:39Z 0 1 0 560 CDBP00559 Arginine--tRNA ligase, cytoplasmic P54136 SYRC_HUMAN true false Enzyme Homo_sapiens RARS 660 75378.295 6.677 Involved in nucleotide binding Forms part of a macromolecular complex that catalyzes the attachment of specific amino acids to cognate tRNAs during protein synthesis. Modulates the secretion of AIMP1 and may be involved in generation of the inflammatory cytokine EMAP2 from AIMP1. AK222797 62897153 RARS 5 5q35.1 RARS HGNC:9870 true hsa:5917 NP_002878.2:NM_002887.3 Interacts (via N-terminus) with AIMP1 (via N-terminus); this stimulates its catalytic activity. Interacts (via N-terminus) with LARS2 (via C-terminus). Monomer; also part of a multisubunit complex that groups tRNA ligases for Arg, Asp, Glu, Gln, Ile, Leu, Lys, Met and Pro 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 561 CDBP00560 GMP synthase [glutamine-hydrolyzing] P49915 GUAA_HUMAN true false Enzyme Homo_sapiens GMPS 693 76714.79 6.867 Involved in catalytic activity Involved in the de novo synthesis of guanine nucleotides which are not only essential for DNA and RNA synthesis, but also provide GTP, which is involved in a number of cellular processes important for cell division. 2VPI;2VXO U10860 GMPS 3 3q24 GMPS HGNC:4378 true hsa:8833 NP_003866.1:NM_003875.2 Homodimer 2020-06-12T23:06:50Z 2020-07-28T02:25:39Z 0 0 0 562 CDBP00561 Ubiquitin-conjugating enzyme E2 E3 Q969T4 UB2E3_HUMAN false false Enzyme Homo_sapiens UBE2E3 207 22912.32 7.179 Involved in acid-amino acid ligase activity Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-11'- and 'Lys-48'-, as well as 'Lys-63'-linked polyubiquitination. Participates in the regulation of transepithelial sodium transport in renal cells. May be involved in cell growth arrest. AB017644 UBE2E3 2 2q32.1 UBE2E3 HGNC:12479 true hsa:10477 NP_006348.1:NM_006357.2;NP_872619.1:NM_182678.1 Ubiquitously expressed at low levels. Highly expressed in skeletal muscle. The ubiquitin-loaded form interacts specifically with importin-11 (IPO11), leading to its import into the nucleus . Interacts with NEDD4L 2020-06-12T23:06:50Z 2020-07-28T02:33:19Z 0 0 0 563 CDBP00562 Ubiquitin-conjugating enzyme E2 B P63146 UBE2B_HUMAN true false Enzyme Homo_sapiens UBE2B 152 17312.205 4.999 Involved in ATP binding Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In association with the E3 enzyme BRE1 (RNF20 and/or RNF40), it plays a role in transcription regulation by catalyzing the monoubiquitination of histone H2B at 'Lys-120' to form H2BK120ub1. H2BK120ub1 gives a specific tag for epigenetic transcriptional activation, elongation by RNA polymerase II, telomeric silencing, and is also a prerequisite for H3K4me and H3K79me formation. In vitro catalyzes 'Lys-11'-, as well as 'Lys-48'- and 'Lys-63'-linked polyubiquitination. Required for postreplication repair of UV-damaged DNA. Associates to the E3 ligase RAD18 to form the UBE2B-RAD18 ubiquitin ligase complex involved in mono-ubiquitination of DNA-associated PCNA on 'Lys-164'. May be involved in neurite outgrowth. 1JAS;1NXA;2Y4W;2YB6;2YBF M74525 UBE2B 5 5q31.1 UBE2B HGNC:12473 true hsa:7320 NP_003328.1:NM_003337.2 Interacts with RAD18, UBR2 and WAC 2020-06-12T23:06:50Z 2020-07-28T02:25:39Z 1 0 0 564 CDBP00563 Probable leucine--tRNA ligase, mitochondrial Q15031 SYLM_HUMAN true false Enzyme Homo_sapiens LARS2 903 101975.43 8.217 Involved in nucleotide binding BC025989 19683964 LARS2 3 3p21.3 LARS2 HGNC:17095 true hsa:23395 NP_056155.1:NM_015340.3 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 565 CDBP00564 AMP deaminase 3 Q01432 AMPD3_HUMAN true false Enzyme Homo_sapiens AMPD3 767 89727.485 6.849 Involved in deaminase activity AMP deaminase plays a critical role in energy metabolism. D12775 158261019 AMPD3 11 11p15 AMPD3 HGNC:470 true hsa:272 NP_000471.1:NM_000480.2;NP_001020560.1:NM_001025389.1;NP_001020561.1:NM_001025390.1;NP_001165901.1:NM_001172430.1;NP_001165902.1:NM_001172431.1 Isoform 1 is the predominant form in skeletal muscle; Isoform 2 predominates in smooth muscle, non-muscle tissue, embryonic muscle and undifferentiated myoblasts; Isoform 3 is found in erythrocytes. zinc ion Homotetramer 2020-06-12T23:06:50Z 2020-07-28T02:25:40Z 0 1 0 566 CDBP00565 Ubiquitin-conjugating enzyme E2 J2 Q8N2K1 UB2J2_HUMAN true false Enzyme Homo_sapiens UBE2J2 259 28898.06 8.403 Involved in acid-amino acid ligase activity Catalyzes the covalent attachment of ubiquitin to other proteins. Seems to function in the selective degradation of misfolded membrane proteins from the endoplasmic reticulum (ERAD) (By similarity). 2F4W NM_058167.2 37577124 UBE2J2 1 1p36.33 UBE2J2 HGNC:19268 true hsa:118424 NP_477515.2:NM_058167.2;NP_919296.1:NM_194315.1;NP_919440.1:NM_194458.1 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 567 CDBP00566 AMP deaminase 2 Q01433 AMPD2_HUMAN true false Enzyme Homo_sapiens AMPD2 879 100686.95 6.933 Involved in deaminase activity AMP deaminase plays a critical role in energy metabolism. NM_004037.6 21264318 AMPD2 1 1p13.3 AMPD2 HGNC:469 true hsa:271 HS04008-MONOMER NP_001244289.1:NM_001257360.1;NP_001244290.1:NM_001257361.1;NP_004028.3:NM_004037.7;NP_631895.1:NM_139156.3;NP_981949.1:NM_203404.1 Three isoforms are present in mammals: AMP deaminase 1 is the predominant form in skeletal muscle; AMP deaminase 2 predominates in smooth muscle, non-muscle tissue, embryonic muscle and undifferentiated myoblasts; AMP deaminase 3 is found in erythrocytes. zinc ion Homotetramer 2020-06-12T23:06:50Z 2020-07-28T02:25:40Z 0 1 0 568 CDBP00567 cGMP-inhibited 3',5'-cyclic phosphodiesterase A Q14432 PDE3A_HUMAN true false Enzyme Homo_sapiens PDE3A 1141 124978.06 5.993 Involved in catalytic activity Cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes (By similarity). 1LRC M91667 38201493 PDE3A 12 12p12 PDE3A HGNC:8778 true hsa:5139 NP_000912.3:NM_000921.4 divalent metal cations . Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions 2020-06-12T23:06:50Z 2020-07-28T02:25:40Z 0 1 0 569 CDBP00568 Ubiquitin-conjugating enzyme E2 L3 P68036 UB2L3_HUMAN true false Enzyme Homo_sapiens UBE2L3 154 24003.385 8.742 Involved in acid-amino acid ligase activity Ubiquitin-conjugating enzyme E2 that specifically acts with HECT-type and RBR family E3 ubiquitin-protein ligases. Does not function with most RING-containing E3 ubiquitin-protein ligases because it lacks intrinsic E3-independent reactivity with lysine: in contrast, it has activity with the RBR family E3 enzymes, such as PARK2 and ARIH1, that function like function like RING-HECT hybrids. Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-11'-linked polyubiquitination. Involved in the selective degradation of short-lived and abnormal proteins. Down-regulated during the S-phase it is involved in progression through the cell cycle. Regulates nuclear hormone receptors transcriptional activity. May play a role in myelopoiesis. 1C4Z;1FBV;3SQV;3SY2 S81003 UBE2L3 22 22q11.21 UBE2L3 HGNC:12488 true hsa:7332 NP_001243284.1:NM_001256355.1;NP_001243285.1:NM_001256356.1;NP_003338.1:NM_003347.3 Ubiquitous, with highest expression in testis. Interacts with PARK2; involved in ubiquitination and degradation of misfolded proteins. Interacts with UBE3A; used by the papilloma virus HPV-16 E6 protein to ubiquitinate p53/TP53. Interacts with CCNB1IP1, CBL, ZAP70, RNF19A, RNF19B and RNF144B. Interacts with ARIH1. Interacts with ARIH2 (via RING-type 1). Interacts with NCOA1; they functionally interact to regulate progesterone receptor transcriptional activity. May interact with NR3C1 2020-06-12T23:06:50Z 2020-07-28T02:25:41Z 0 0 1 570 CDBP00569 RNA 3'-terminal phosphate cyclase O00442 RTC1_HUMAN true false Enzyme Homo_sapiens RTCA 366 40709.05 8.342 Involved in ligase activity, forming phosphoric ester bonds Catalyzes the conversion of 3'-phosphate to a 2',3'-cyclic phosphodiester at the end of RNA. The mechanism of action of the enzyme occurs in 3 steps: (A) adenylation of the enzyme by ATP; (B) transfer of adenylate to an RNA-N3'P to produce RNA-N3'PP5'A; (C) and attack of the adjacent 2'-hydroxyl on the 3'-phosphorus in the diester linkage to produce the cyclic end product. The biological role of this enzyme is unknown but it is likely to function in some aspects of cellular RNA processing. AL445928 55665043 RTCD1 1 1p21.2 RTCD1 HGNC:17981 true hsa:8634 NP_001124313.1:NM_001130841.1;NP_003720.1:NM_003729.3 Ubiquitous. Monomer 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 571 CDBP00570 Adenylate kinase 7 Q96M32 KAD7_HUMAN true false Enzyme Homo_sapiens AK7 723 82657.68 4.735 Involved in ATP binding Adenylate kinase involved in maintaining ciliary structure and function (By similarity). Has highest activity toward AMP, and weaker activity toward dAMP, CMP and dCMP. AK057426 16553126 AK7 14 14q32.2 AK7 HGNC:20091 true hsa:122481 NP_689540.2:NM_152327.3 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 572 CDBP00571 cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A Q9Y233 PDE10_HUMAN true false Enzyme Homo_sapiens PDE10A 779 89388.7 6.434 Involved in catalytic activity Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. Can hydrolyze both cAMP and cGMP, but has higher affinity for cAMP and is more efficient with cAMP as substrate. 1LRB;2OUN;2OUP;2OUQ;2OUR;2OUS;2OUU;2OUV;2OUY;2WEY;2Y0J;2ZMF;3SN7;3SNI;3SNL;3UI7;3UUO;4AEL;4DDL;4DFF;4FCB;4FCD;4HEU;4HF4 AB020593 5902442 PDE10A 6 6q26 PDE10A HGNC:8772 true hsa:10846 NP_001124162.1:NM_001130690.2 Abundant in the putamen and caudate nucleus regions of brain and testis, moderately expressed in the thyroid gland, pituitary gland, thalamus and cerebellum. divalent metal cations . Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions Homodimer 2020-06-12T23:06:50Z 2020-07-28T02:25:41Z 0 1 0 573 CDBP00572 Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C Q14123 PDE1C_HUMAN true false Enzyme Homo_sapiens PDE1C 709 72207.775 6.642 Involved in catalytic activity Cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes. Has a high affinity for both cAMP and cGMP. 1LXS AK056170 193786355 PDE1C 7 7p14.3 PDE1C HGNC:8776 true hsa:5137 NP_001177985.1:NM_001191056.1;NP_001177986.1:NM_001191057.1;NP_001177987.1:NM_001191058.1;NP_001177988.1:NM_001191059.1;NP_005011.1:NM_005020.2 Expressed in several tissues, including brain and heart. divalent metal cations . Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions Homodimer 2020-06-12T23:06:50Z 2020-07-28T02:25:41Z 1 1 0 574 CDBP00573 Tyrosine--tRNA ligase, cytoplasmic P54577 SYYC_HUMAN true false Enzyme Homo_sapiens YARS 528 59143.025 7.046 Involved in nucleotide binding Catalyzes the attachment of tyrosine to tRNA(Tyr) in a two-step reaction: tyrosine is first activated by ATP to form Tyr-AMP and then transferred to the acceptor end of tRNA(Tyr) (By similarity). 1N3L;1NTG;1Q11 AK125213 193785013 YARS 1 1p35.1 YARS HGNC:12840 true hsa:8565 NP_003671.1:NM_003680.3 Homodimer 2020-06-12T23:06:50Z 2020-07-28T02:25:41Z 1 0 0 575 CDBP00574 DNA ligase 3 P49916 DNLI3_HUMAN true false Enzyme Homo_sapiens LIG3 1009 106017.03 9.152 Involved in DNA ligase (ATP) activity Interacts with DNA-repair protein XRCC1 and can correct defective DNA strand-break repair and sister chromatid exchange following treatment with ionizing radiation and alkylating agents. 1IMO;1IN1;1UW0;3L2P;3PC7;3PC8;3QVG NM_013975.3 73747829 LIG3 17 17q11.2-q12 LIG3 HGNC:6600 true hsa:3980 NP_002302.2:NM_002311.4;NP_039269.2:NM_013975.3 Testis, thymus, prostate and heart. Magnesium 2020-06-12T23:06:50Z 2020-07-28T02:25:41Z 0 1 0 576 CDBP00575 Aspartate--tRNA ligase, cytoplasmic P14868 SYDC_HUMAN true false Enzyme Homo_sapiens DARS 501 57135.8 6.546 Involved in nucleotide binding Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA. AK222476 62896511 DARS 2 2q21.3 DARS HGNC:2678 true hsa:1615 NP_001340.2:NM_001349.2 Homodimer; also part of a multisubunit complex that groups AIMP1, AIMP2, EEF1A1 and tRNA ligases for Arg, Asp, Glu, Gln, Ile, Leu, Lys, Met and Pro 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 577 CDBP00576 cAMP-specific 3',5'-cyclic phosphodiesterase 4B Q07343 PDE4B_HUMAN true false Enzyme Homo_sapiens PDE4B 736 64351.765 4.916 Involved in catalytic activity Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May be involved in mediating central nervous system effects of therapeutic agents ranging from antidepressants to antiasthmatic and anti-inflammatory agents. 1F0J;1JP1;1JP2;1RO6;1RO9;1ROR;1TB5;1XLX;1XLZ;1XM4;1XM6;1XMU;1XMY;1XN0;1XOS;1XOT;1Y2H;1Y2J;2CHM;2QYL;3D3P;3FRG;3G45;3GWT;3HC8;3HDZ;3HMV;3KKT;3LY2;3O0J;3O56;3O57 L20966 PDE4B 1 1p31 PDE4B HGNC:8781 true hsa:5142 NP_001032416.1:NM_001037339.1;NP_001032417.1:NM_001037340.1;NP_001032418.1:NM_001037341.1;NP_002591.2:NM_002600.3 Expressed in brain, heart, lung and skeletal muscle. divalent metal cations . Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions 2020-06-12T23:06:50Z 2020-07-28T02:25:41Z 0 1 0 578 CDBP00577 Ubiquitin-conjugating enzyme E2 D3 P61077 UB2D3_HUMAN true false Enzyme Homo_sapiens UBE2D3 147 16686.96 7.804 Involved in acid-amino acid ligase activity Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-11'-, as well as 'Lys-48'-linked polyubiquitination. Cooperates with the E2 CDC34 and the SCF(FBXW11) E3 ligase complex for the polyubiquitination of NFKBIA leading to its subsequent proteasomal degradation. Acts as an initiator E2, priming the phosphorylated NFKBIA target at positions 'Lys-21' and/or 'Lys-22' with a monoubiquitin. Ubiquitin chain elongation is then performed by CDC34, building ubiquitin chains from the UBE2D3-primed NFKBIA-linked ubiquitin. Acts also as an initiator E2, in conjunction with RNF8, for the priming of PCNA. Monoubiquitination of PCNA, and its subsequent polyubiquitination, are essential events in the operation of the DNA damage tolerance (DDT) pathway that is activated after DNA damage caused by UV or chemical agents during S-phase. Associates with the BRCA1/BARD1 E3 ligase complex to perform ubiquitination at DNA damage sites following ionizing radiation leading to DNA repair. Targets DAPK3 for ubiquitination which influences promyelocytic leukemia protein nuclear body (PML-NB) formation in the nucleus. In conjunction with the MDM2 and TOPORS E3 ligases, functions ubiquitination of p53/TP53. Supports NRDP1-mediated ubiquitination and degradation of ERBB3 and of BRUCE which triggers apoptosis. In conjunction with the CBL E3 ligase, targets EGFR for polyubiquitination at the plasma membrane as well as during its internalization and transport on endosomes. In conjunction with the STUB1 E3 quality control E3 ligase, ubiquitinates unfolded proteins to catalyze their immediate destruction (By similarity). 1X23;2FUH;3L1Z;3RPG;3UGB NM_003340.5 4507777 UBE2D3 4 4q24 UBE2D3 HGNC:12476 true hsa:7323 NP_003331.1:NM_003340.5;NP_871615.1:NM_181886.2;NP_871616.1:NM_181887.1;NP_871617.1:NM_181888.2;NP_871618.1:NM_181889.1;NP_871619.1:NM_181890.1;NP_871620.1:NM_181891.1;NP_871621.1:NM_181892.2;NP_871622.1:NM_181893.1 Interacts with SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complex; when Cullin is neddylated, the interaction between the E2 and the SCF complex is strengthened. Interacts with DAPK3. Interacts with BRCA1; the DNA damage checkpoint promotes the association with BRCA1 after ionizing radiation. Interacts non-covalently with ubiquitin 2020-06-12T23:06:50Z 2020-07-28T02:25:41Z 1 0 1 579 CDBP00578 Asparagine--tRNA ligase, cytoplasmic O43776 SYNC_HUMAN true false Enzyme Homo_sapiens NARS 548 62942.425 6.257 Involved in nucleotide binding AJ000334 2764505 NARS 18 18q21.31 NARS HGNC:7643 true hsa:4677 NP_004530.1:NM_004539.3 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 580 CDBP00579 cAMP-specific 3',5'-cyclic phosphodiesterase 7B Q9NP56 PDE7B_HUMAN true false Enzyme Homo_sapiens PDE7B 450 51834.855 7.031 Involved in catalytic activity Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May be involved in the control of cAMP-mediated neural activity and cAMP metabolism in the brain. 1LXW AB038040 8439497 PDE7B 6 6q23-q24 PDE7B HGNC:8792 true hsa:27115 NP_061818.1:NM_018945.3 Highly expressed in brain. Also expressed in heart, liver, skeletal muscle and pancreas. divalent metal cations . Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions 2020-06-12T23:06:50Z 2020-07-28T02:25:41Z 0 1 0 581 CDBP00580 Lysine--tRNA ligase Q15046 SYK_HUMAN true false Enzyme Homo_sapiens KARS 597 71496.45 6.809 Involved in nucleotide binding Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA. When secreted, acts as a signaling molecule that induces immune response through the activation of monocyte/macrophages. Catalyzes the synthesis of diadenosine oligophosphate (Ap4A), a signaling molecule involved in the activation of MITF transcriptional activity. Interacts with HIV-1 virus GAG protein, facilitating the selective packaging of tRNA(3)(Lys), the primer for reverse transcription initiation. 3BJU NM_005548.2 5031815 KARS 16 16q23.1 KARS HGNC:6215 true hsa:3735 NP_001123561.1:NM_001130089.1;NP_005539.1:NM_005548.2 Homodimer; also part of a multisubunit complex that groups AIMP1, AIMP2, EEF1A1 and tRNA ligases for Arg, Asp, Glu, Gln, Ile, Leu, Lys, Met and Pro. Interacts with AIMP2 (via N-terminus) and MITF. Interacts directly with HIV-1 virus GAG protein 2020-06-12T23:06:50Z 2020-07-28T02:25:42Z 0 1 0 582 CDBP00581 Isoleucine--tRNA ligase, cytoplasmic P41252 SYIC_HUMAN true false Enzyme Homo_sapiens IARS 1262 144496.915 6.147 Involved in nucleotide binding AK293014 158259489 IARS 9 9q21 IARS HGNC:5330 true hsa:3376 NP_002152.2:NM_002161.5;NP_038203.2:NM_013417.3 Part of a multisubunit complex that groups tRNA ligases for Arg, Asp, Glu, Gln, Ile, Leu, Lys, Met and Pro 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 583 CDBP00582 Bis(5'-adenosyl)-triphosphatase P49789 FHIT_HUMAN true false Enzyme Homo_sapiens FHIT 147 16858.11 7.073 Involved in catalytic activity Cleaves A-5'-PPP-5'A to yield AMP and ADP. Possible tumor suppressor for specific tissues. 1FHI;1FIT;2FHI;2FIT;3FIT;4FIT;5FIT;6FIT NM_001166243.1 261278358 FHIT 3 3p14.2 FHIT HGNC:3701 true hsa:2272 NP_001159715.1:NM_001166243.1;NP_002003.1:NM_002012.2 Low levels expressed in all tissues tested. Phospho-FHIT observed in liver and kidney, but not in brain and lung. Phospho-FHIT undetected in all tested human tumor cell lines. Divalent cations. Magnesium, but manganese and to a lesser extent calcium or cobalt can be substituted; but not zinc, cadmium or nickel Homodimer 2020-06-12T23:06:50Z 2020-07-28T02:25:42Z 0 0 0 584 CDBP00583 High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A O76083 PDE9A_HUMAN true false Enzyme Homo_sapiens PDE9A 593 61708.5 5.975 Involved in catalytic activity Hydrolyzes the second messenger cGMP, which is a key regulator of many important physiological processes. 2HD1;2YY2;3DY8;3DYL;3DYN;3DYQ;3DYS;3JSI;3JSW;3K3E;3K3H;3N3Z;3QI3;3QI4;4GH6 AF048837 PDE9A 21 21q22.3 PDE9A HGNC:8795 true hsa:5152 NP_001001567.1:NM_001001567.1;NP_001001568.1:NM_001001568.1;NP_001001569.1:NM_001001569.1;NP_001001570.1:NM_001001570.1;NP_001001571.1:NM_001001571.1;NP_001001572.1:NM_001001572.1;NP_001001573.1:NM_001001573.1;NP_001001574.1:NM_001001574.1;NP_001001575.1:NM_001001575.1;NP_001001576.1:NM_001001576.1;NP_001001577.1:NM_001001577.1;NP_001001578.1:NM_001001578.1;NP_001001579.1:NM_001001579.1;NP_001001580.1:NM_001001580.1;NP_001001581.1:NM_001001581.1;NP_001001582.1:NM_001001582.1;NP_001001583.1:NM_001001583.1;NP_001001584.1:NM_001001584.2;NP_001001585.1:NM_001001585.1;NP_002597.1:NM_002606.2 Expressed in all tissues examined (testis, brain, small intestine, skeletal muscle, heart, lung, thymus, spleen, placenta, kidney, liver, pancreas, ovary and prostate) except blood. Highest levels in brain, heart, kidney, spleen, prostate and colon. Isoform PDE9A12 is found in prostate. divalent metal cations . Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions 2020-06-12T23:06:50Z 2020-07-28T02:25:42Z 0 1 0 585 CDBP00584 cGMP-dependent 3',5'-cyclic phosphodiesterase O00408 PDE2A_HUMAN true false Enzyme Homo_sapiens PDE2A 941 105145.485 5.444 Involved in catalytic activity Cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes. 1Z1L;3IBJ;3ITM;3ITU U67733 2108052 PDE2A 11 11q13.4 PDE2A HGNC:8777 true hsa:5138 NP_001137311.1:NM_001143839.3;NP_001139681.1:NM_001146209.2;NP_001230713.1:NM_001243784.1;NP_002590.1:NM_002599.4 Expressed in brain and to a lesser extent in heart, placenta, lung, skeletal muscle, kidney and pancreas. divalent metal cations . Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions Homodimer 2020-06-12T23:06:50Z 2020-07-28T02:25:42Z 0 1 1 586 CDBP00585 Ubiquitin-like modifier-activating enzyme 1 P22314 UBA1_HUMAN true false Enzyme Homo_sapiens UBA1 1058 117848.1 5.5 Involved in catalytic activity Activates ubiquitin by first adenylating its C-terminal glycine residue with ATP, and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding an ubiquitin- E1 thioester and free AMP ["None"] ["None"] 1Z7L X56976 35830 UBA1 UBA1 HGNC:12469 true 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 587 CDBP00586 Tyrosine--tRNA ligase, mitochondrial Q9Y2Z4 SYYM_HUMAN true false Enzyme Homo_sapiens YARS2 477 53198.56 8.976 Involved in nucleotide binding Catalyzes the attachment of tyrosine to tRNA(Tyr) in a two-step reaction: tyrosine is first activated by ATP to form Tyr-AMP and then transferred to the acceptor end of tRNA(Tyr) (By similarity). 2PID;3ZXI NM_001040436.1 94681057 YARS2 12 12p11.21 YARS2 HGNC:24249 true hsa:51067 NP_001035526.1:NM_001040436.2 Homodimer 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 588 CDBP00587 Ubiquitin-conjugating enzyme E2 E1 P51965 UB2E1_HUMAN true false Enzyme Homo_sapiens UBE2E1 193 21403.93 8.524 Involved in acid-amino acid ligase activity Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. Catalyzes the covalent attachment of ISG15 to other proteins. Mediates the selective degradation of short-lived and abnormal proteins. In vitro also catalyzes 'Lys-48'-linked polyubiquitination. 1XR9;3BZH AK314854 189054583 UBE2E1 3 3p24.2 UBE2E1 HGNC:12477 true hsa:7324 NP_003332.1:NM_003341.4;NP_872607.1:NM_182666.2 Interacts with RNF14 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 589 CDBP00588 Bis(5'-nucleosyl)-tetraphosphatase [asymmetrical] P50583 AP4A_HUMAN true false Enzyme Homo_sapiens NUDT2 147 16829.09 5.354 Involved in hydrolase activity Asymmetrically hydrolyzes Ap4A to yield AMP and ATP. Plays a major role in maintaining homeostasis. 1XSA;1XSB;1XSC;3U53 AL356494 55958893 NUDT2 9 9p13 NUDT2 HGNC:8049 true hsa:318 NP_001152.1:NM_001161.4;NP_001231319.1:NM_001244390.1;NP_671701.1:NM_147172.2;NP_671702.1:NM_147173.2 Divalent ions 2020-06-12T23:06:50Z 2020-07-28T02:25:42Z 0 0 0 590 CDBP00589 Long-chain-fatty-acid--CoA ligase 6 Q9UKU0 ACSL6_HUMAN true false Enzyme Homo_sapiens ACSL6 697 80609.765 7.29 Involved in catalytic activity Activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Plays an important role in fatty acid metabolism in brain and the acyl-CoAs produced may be utilized exclusively for the synthesis of the brain lipid. AF129166 5702202 ACSL6 5 5q31 ACSL6 HGNC:16496 true hsa:23305 NP_001009185.1:NM_001009185.2;NP_001192176.1:NM_001205247.1;NP_001192177.1:NM_001205248.1;NP_001192179.1:NM_001205250.1;NP_001192180.1:NM_001205251.1;NP_056071.2:NM_015256.3 Expressed predominantly in erythrocyte precursors, in particular in reticulocytes, fetal blood cells derived from fetal liver, hemopoietic stem cells from cord blood, bone marrow and brain. Magnesium 2020-06-12T23:06:50Z 2020-07-28T02:25:43Z 0 0 0 591 CDBP00590 Methionine--tRNA ligase, cytoplasmic P56192 SYMC_HUMAN true false Enzyme Homo_sapiens MARS 900 101114.925 6.157 Involved in nucleotide binding 2DJV X94754 1702932 MARS 12 12q13 MARS HGNC:6898 true hsa:4141 NP_004981.2:NM_004990.3 Component of the multisynthetase complex which is comprised of a bifunctional glutamyl-prolyl-tRNA synthetase, the monospecific isoleucyl, leucyl, glutaminyl, methionyl, lysyl, arginyl, and aspartyl-tRNA synthetases as well as three auxiliary proteins, p18, p48 and p43 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 592 CDBP00591 Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha P16499 PDE6A_HUMAN true false Enzyme Homo_sapiens PDE6A 860 99546.595 5.723 Involved in catalytic activity This protein participates in processes of transmission and amplification of the visual signal. BC035909 112180437 PDE6A 5 5q31.2-q34 PDE6A HGNC:8785 true hsa:5145 NP_000431.2:NM_000440.2 divalent metal cations . Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions Oligomer composed of two catalytic chains (alpha and beta), an inhibitory chain (gamma) and the delta chain 2020-06-12T23:06:50Z 2020-07-28T02:25:43Z 0 1 0 593 CDBP00592 Alanine--tRNA ligase, cytoplasmic P49588 SYAC_HUMAN true false Enzyme Homo_sapiens AARS 968 106809.525 5.53 Involved in nucleotide binding Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain (By similarity). NM_001605.2 109148542 AARS 16 16q22 AARS HGNC:20 true hsa:16 NP_001596.2:NM_001605.2 zinc ion Monomer 2020-06-12T23:06:50Z 2020-07-28T02:25:43Z 0 1 0 594 CDBP00593 Tryptophan--tRNA ligase, mitochondrial Q9UGM6 SYWM_HUMAN true false Enzyme Homo_sapiens WARS2 360 40146.265 9.273 Involved in nucleotide binding AJ242739 6572289 WARS2 1 1p12 WARS2 HGNC:12730 true hsa:10352 NP_056651.1:NM_015836.3;NP_957715.1:NM_201263.2 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 595 CDBP00594 ADP-sugar pyrophosphatase Q9UKK9 NUDT5_HUMAN true false Enzyme Homo_sapiens NUDT5 219 24327.41 4.937 Involved in hydrolase activity Hydrolyzes with similar activities ADP-ribose ADP-mannose, ADP-glucose, 8-oxo-GDP and 8-oxo-dGDP. Can also hydrolyze other nucleotide sugars with low activity. 2DSB;2DSC;2DSD;3AC9;3ACA;3BM4;3L85 AF155832 6288769 NUDT5 10 10p14 NUDT5 HGNC:8052 true hsa:11164 NP_054861.2:NM_014142.2 Widely expressed. Most abundant in liver. magnesium ions Homodimer 2020-06-12T23:06:50Z 2020-07-28T02:25:43Z 0 0 0 596 CDBP00595 Ribose-phosphate pyrophosphokinase 1 P60891 PRPS1_HUMAN true false Enzyme Homo_sapiens PRPS1 318 12324.195 6.662 Involved in magnesium ion binding Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis. 2H06;2H07;2H08;2HCR;3EFH;3S5J AL137787 57208781 PRPS1 X Xq21.32-q24 PRPS1 HGNC:9462 true hsa:5631 NP_001191331.1:NM_001204402.1;NP_002755.1:NM_002764.3 Magnesium Homodimer. The active form is probably a hexamer composed of 3 homodimers 2020-06-12T23:06:50Z 2020-07-28T02:25:43Z 0 1 0 597 CDBP00596 Serine--tRNA ligase, mitochondrial Q9NP81 SYSM_HUMAN true false Enzyme Homo_sapiens SARS2 518 58029.805 7.355 Involved in nucleotide binding Catalyzes the attachment of serine to tRNA(Ser). Is also able to aminoacylate tRNA(Sec) with serine, to form the misacylated tRNA L-seryl-tRNA(Sec), which will be further converted into selenocysteinyl-tRNA(Sec) (By similarity). AB029948 9188535 SARS2 19 19q13.2 SARS2 HGNC:17697 true hsa:54938 NP_001139373.1:NM_001145901.1;NP_060297.1:NM_017827.3 Homodimer. The tRNA molecule binds across the dimer 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 598 CDBP00597 High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B O95263 PDE8B_HUMAN true false Enzyme Homo_sapiens PDE8B 885 87973.225 6.412 Involved in catalytic activity Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May be involved in specific signaling in the thyroid gland. AB085824 27372873 PDE8B 5 5q13.3 PDE8B HGNC:8794 true hsa:8622 NP_001025022.1:NM_001029851.2;NP_001025023.1:NM_001029852.2;NP_001025024.1:NM_001029853.2;NP_001025025.1:NM_001029854.2;NP_003710.1:NM_003719.3 Abundantly expressed in the thyroid. Also very weakly expressed in brain, spinal cord and placenta. In the thyroid isoform 1 predominates, and isoforms 2 and 6 are also highly expressed. In the placenta isoforms 1 and 2 are expressed equally. In the brain isoform 2 predominates. divalent metal cations . Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions 2020-06-12T23:06:50Z 2020-07-28T02:25:43Z 0 1 1 599 CDBP00598 cAMP-specific 3',5'-cyclic phosphodiesterase 4C Q08493 PDE4C_HUMAN true false Enzyme Homo_sapiens PDE4C 712 79900.795 5.196 Involved in catalytic activity Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. 1LXU;2QYM NM_000923.3 115529445 PDE4C 19 19p13.11 PDE4C HGNC:8782 true hsa:5143 NP_000914.2:NM_000923.4;NP_001092288.1:NM_001098818.2;NP_001092289.1:NM_001098819.2 Expressed in various tissues but not in cells of the immune system. divalent metal cations . Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions Part of a complex containing AKAP5, ADCY5, ADCY6 and PKD2 2020-06-12T23:06:50Z 2020-07-28T02:25:43Z 0 1 0 600 CDBP00599 Ribose-phosphate pyrophosphokinase 2 P11908 PRPS2_HUMAN true false Enzyme Homo_sapiens PRPS2 318 35054.06 6.451 Involved in magnesium ion binding Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis. NM_002765.4 4506129 PRPS2 X Xp22.2 PRPS2 HGNC:9465 true hsa:5634 NP_001034180.1:NM_001039091.2;NP_002756.1:NM_002765.4 Magnesium Homodimer. The active form is probably a hexamer composed of 3 homodimers 2020-06-12T23:06:50Z 2020-07-28T02:25:44Z 0 1 0 601 CDBP00600 Thiamin pyrophosphokinase 1 Q9H3S4 TPK1_HUMAN true false Enzyme Homo_sapiens TPK1 243 27265.05 5.19 Involved in thiamin diphosphokinase activity Catalyzes the phosphorylation of thiamine to thiamine pyrophosphate. Can also catalyze the phosphorylation of pyrithiamine to pyrithiamine pyrophosphate. 1OLY;3S4Y AB028138 TPK1 7 7q34-q35 TPK1 HGNC:17358 true hsa:27010 NP_071890.2:NM_022445.3 Detected in heart, kidney, testis, small intestine and peripheral blood leukocytes, and at very low levels in a variety of tissues. Homodimer 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 602 CDBP00601 Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta P35913 PDE6B_HUMAN true false Enzyme Homo_sapiens PDE6B 854 98348.955 5.233 Involved in catalytic activity This protein participates in processes of transmission and amplification of the visual signal. Necessary for the formation of a functional phosphodiesterase holoenzyme. NM_000283.3 105990537 PDE6B 4 4p16.3 PDE6B HGNC:8786 true hsa:5158 NP_000274.2:NM_000283.3;NP_001138763.1:NM_001145291.1;NP_001138764.1:NM_001145292.1 divalent metal cations . Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions Oligomer composed of two catalytic chains (alpha and beta), an inhibitory chain (gamma) and the delta chain 2020-06-12T23:06:50Z 2020-07-28T02:25:44Z 0 1 0 603 CDBP00602 SUMO-conjugating enzyme UBC9 P63279 UBC9_HUMAN true false Enzyme Homo_sapiens UBE2I 158 18006.665 8.659 Involved in acid-amino acid ligase activity Accepts the ubiquitin-like proteins SUMO1, SUMO2, SUMO3 and SUMO4 from the UBLE1A-UBLE1B E1 complex and catalyzes their covalent attachment to other proteins with the help of an E3 ligase such as RANBP2 or CBX4. Can catalyze the formation of poly-SUMO chains. Necessary for sumoylation of FOXL2 and KAT5. Essential for nuclear architecture and chromosome segregation. 1A3S;1KPS;1Z5Q;1Z5S;2GRN;2GRO;2GRP;2GRQ;2GRR;2O25;2PE6;2PX9;2XWU;3A4S;3UIN;3UIO;3UIP NM_003345.3 4507785 UBE2I 16 16p13.3 UBE2I HGNC:12485 true hsa:7329 NP_003336.1:NM_003345.4;NP_919235.1:NM_194259.2;NP_919236.1:NM_194260.2;NP_919237.1:NM_194261.2 Expressed in heart, skeletal muscle, pancreas, kidney, liver, lung, placenta and brain. Also expressed in testis and thymus. Interacts with HIPK1, HIPK2, PPM1J, RASD2 and TCF3 Interacts with NR2C1; the interaction promotes its sumoylation . Forms a tight complex with RANGAP1 and RANBP2. Interacts with SIAH1 and PARP. Interacts with various transcription factors such as TFAP2A, TFAP2B, TFAP2C, AR, ETS1 and SOX4. Interacts with RWDD3; the interaction enhances the sumoylation of a number of proteins such as HIF1A and I-kappa-B. Interacts with DNMT1. Interacts with FOXL2. Forms a complex with SENP6 and UBE2I in response to UV irradiation. Interacts with human herpesvirus 6 IE2. Interacts with human adenovirus early E1A protein; this interaction interferes with polysumoylation (Probable). Interacts with DNM1l (via its GTPase and B domains); the interaction promotes sumoylation of DNM1L, mainly in its B domain. Interacts with PML-RARA oncoprotein (via the coiled-colied domain); the interaction is required for sumoylation of the PML-RARA oncoprotein. Interacts with IPO13. Interacts with NFATC2IP; this inhibits formation of poly-SUMO chains 2020-06-12T23:06:50Z 2020-07-28T02:25:44Z 1 0 1 604 CDBP00603 cAMP-specific 3',5'-cyclic phosphodiesterase 4D Q08499 PDE4D_HUMAN true false Enzyme Homo_sapiens PDE4D 809 91114.1 5.537 Involved in catalytic activity Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. 1E9K;1MKD;1OYN;1PTW;1Q9M;1TB7;1TBB;1XOM;1XON;1XOQ;1XOR;1Y2B;1Y2C;1Y2D;1Y2E;1Y2K;1ZKN;2FM0;2FM5;2PW3;2QYN;3G4G;3G4I;3G4K;3G4L;3G58;3IAD;3IAK;3K4S;3SL3;3SL4;3SL5;3SL6;3SL8;3V9B NM_001104631.1 157277988 PDE4D 5 5q12 PDE4D HGNC:8783 true hsa:5144 NP_001098101.1:NM_001104631.1;NP_001159371.1:NM_001165899.1;NP_001184147.1:NM_001197218.1;NP_001184148.1:NM_001197219.1;NP_001184149.1:NM_001197220.1;NP_001184150.1:NM_001197221.1;NP_001184151.1:NM_001197222.1;NP_001184152.1:NM_001197223.1;NP_006194.2:NM_006203.4 Widespread; most abundant in skeletal muscle. Isoform 6 is detected in brain. Isoform 8 is detected in brain, placenta, lung and kidney. Isoform 7 is detected in heart and skeletal muscle. divalent metal cations . Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions Homodimer for the long isoforms. Isoforms with truncated N-termini are monomeric. Isoform 3 is part of a ternary complex containing PRKAR2A, PRKAR2B and AKAP9. Interacts with PDE4DIP. Identified in a complex composed of RYR1, PDE4D, PKA, FKBP1A and protein phosphatase 1 (PP1) . Isoform 5, isoform N3 and isoform 12 bind GNB2L1 via their unique N-terminus. Binds ARRB2 2020-06-12T23:06:50Z 2020-07-28T02:25:44Z 0 1 0 605 CDBP00604 Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma P18545 CNRG_HUMAN true false Enzyme Homo_sapiens PDE6G 87 9643.09 9.487 Involved in 3',5'-cyclic-nucleotide phosphodiesterase activity Participates in processes of transmission and amplification of the visual signal. cGMP-PDEs are the effector molecules in G-protein-mediated phototransduction in vertebrate rods and cones. 3JWR M36476 PDE6G 17 17q25 PDE6G HGNC:8789 true hsa:5148 NP_002593.1:NM_002602.3 Oligomer composed of two catalytic chains (alpha and beta), an inhibitory chain (gamma) and the delta chain 2020-06-12T23:06:50Z 2020-07-28T02:25:44Z 1 0 0 606 CDBP00605 ADP-ribose pyrophosphatase, mitochondrial Q9BW91 NUDT9_HUMAN true false Enzyme Homo_sapiens NUDT9 350 35448.725 8.232 Involved in hydrolase activity Hydrolyzes ADP-ribose (ADPR) to AMP and ribose 5'-phosphate. 1Q33;1QVJ AY026252 14160858 NUDT9 4 4q22.1 NUDT9 HGNC:8056 true hsa:53343 NP_001234940.1:NM_001248011.1;NP_076952.1:NM_024047.4;NP_932155.1:NM_198038.2 Ubiquitously expressed but isoform 1 is the most predominant isoform. Magnesium;Manganese Monomer. Interacts with GLOD4 2020-06-12T23:06:50Z 2020-07-28T02:25:44Z 0 0 0 607 CDBP00606 Adenosine kinase P55263 ADK_HUMAN true false Enzyme Homo_sapiens ADK 362 38702.93 6.688 Involved in adenosine kinase activity ATP dependent phosphorylation of adenosine and other related nucleoside analogs to monophosphate derivatives. Serves as a potential regulator of concentrations of extracellular adenosine and intracellular adenine nucleotides. 1BX4;2I6A;2I6B NM_006721 32484975 ADK 10 10q11-q24 ADK HGNC:257 true hsa:132 HS08097-MONOMER NP_001114.2:NM_001123.3;NP_001189378.1:NM_001202449.1;NP_001189379.1:NM_001202450.1;NP_006712.2:NM_006721.3 Widely expressed. Highest level in placenta, liver, muscle and kidney. magnesium ions Monomer 2020-06-12T23:06:50Z 2020-07-28T02:25:44Z 0 1 0 608 CDBP00607 Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta O43924 PDE6D_HUMAN true false Enzyme Homo_sapiens PDE6D 150 17419.9 5.35 Involved in 3',5'-cyclic-nucleotide phosphodiesterase activity ["None"] ["None"] 1KSG AF022912 2655094 PDE6D Chromosome:2 2q35-q36 PDE6D HGNC:8788 true 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 609 CDBP00608 Probable histidine--tRNA ligase, mitochondrial P49590 SYHM_HUMAN true false Enzyme Homo_sapiens HARS2 506 56887.865 8.236 Involved in nucleotide binding U18937 HARS2 5 5q31.3 HARS2 HGNC:4817 true hsa:23438 NP_036340.1:NM_012208.2 A high level expression is seen in the heart, kidney and skeletal muscle while a lower level expression is seen in the brain and liver. 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 610 CDBP00609 Ubiquitin-conjugating enzyme E2 J1 Q9Y385 UB2J1_HUMAN true false Enzyme Homo_sapiens UBE2J1 318 35198.275 6.748 Involved in acid-amino acid ligase activity Catalyzes the covalent attachment of ubiquitin to other proteins. Functions in the selective degradation of misfolded membrane proteins from the endoplasmic reticulum (ERAD). NM_016021.2 37577122 UBE2J1 6 6q15 UBE2J1 HGNC:17598 true hsa:51465 NP_057105.2:NM_016021.2 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 611 CDBP00610 Long-chain-fatty-acid--CoA ligase 5 Q9ULC5 ACSL5_HUMAN true false Enzyme Homo_sapiens ACSL5 683 82262.19 7.39 Involved in catalytic activity Acyl-CoA synthetases (ACSL) activate long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. ACSL5 may activate fatty acids from exogenous sources for the synthesis of triacylglycerol destined for intracellular storage (By similarity). Utilizes a wide range of saturated fatty acids with a preference for C16-C18 unsaturated fatty acids (By similarity). It was suggested that it may also stimulate fatty acid oxidation (By similarity). At the villus tip of the crypt-villus axis of the small intestine may sensitize epithelial cells to apoptosis specifically triggered by the death ligand TRAIL. May have a role in the survival of glioma cells. AB033899 6174680 ACSL5 10 10q25.1-q25.2 ACSL5 HGNC:16526 true hsa:51703 NP_057318.2:NM_016234.3;NP_976313.1:NM_203379.1;NP_976314.1:NM_203380.1 Magnesium 2020-06-12T23:06:50Z 2020-07-28T02:25:45Z 0 0 0 612 CDBP00611 Histidine--tRNA ligase, cytoplasmic P12081 SYHC_HUMAN true false Enzyme Homo_sapiens HARS 509 52719.54 5.528 Involved in nucleotide binding 1X59;4G84;4G85 Z11518 32460 HARS 5 5q31.3 HARS HGNC:4816 true hsa:3035 NP_001244969.1:NM_001258040.1;NP_002100.2:NM_002109.4 Brain, heart, liver and kidney. 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 613 CDBP00612 Serine--tRNA ligase, cytoplasmic P49591 SYSC_HUMAN true false Enzyme Homo_sapiens SARS 514 58776.785 6.436 Involved in nucleotide binding Catalyzes the attachment of serine to tRNA(Ser). Is also probably able to aminoacylate tRNA(Sec) with serine, to form the misacylated tRNA L-seryl-tRNA(Sec), which will be further converted into selenocysteinyl-tRNA(Sec). 3VBB X91257 1050527 SARS 1 1p13.3 SARS HGNC:10537 true hsa:6301 NP_006504.2:NM_006513.3 Homodimer. The tRNA molecule binds across the dimer 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 614 CDBP00613 Long-chain-fatty-acid--CoA ligase 3 O95573 ACSL3_HUMAN true false Enzyme Homo_sapiens ACSL3 720 80419.415 8.385 Involved in catalytic activity Acyl-CoA synthetases (ACSL) activates long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. ACSL3 mediates hepatic lipogenesis (By similarity). Preferentially uses myristate, laurate, arachidonate and eicosapentaenoate as substrates (By similarity). Has mainly an anabolic role in energy metabolism. Required for the incorporation of fatty acids into phosphatidylcholine, the major phospholipid located on the surface of VLDL (very low density lipoproteins). AB061436 17026088 ACSL3 2 2q34-q35 ACSL3 HGNC:3570 true hsa:2181 NP_004448.2:NM_004457.3;NP_976251.1:NM_203372.1 Magnesium 2020-06-12T23:06:50Z 2020-07-28T02:25:45Z 0 0 0 615 CDBP00614 Leucine--tRNA ligase, cytoplasmic Q9P2J5 SYLC_HUMAN true false Enzyme Homo_sapiens LARS 1176 134465.155 7.291 Involved in nucleotide binding Catalyzes the specific attachment of an amino acid to its cognate tRNA in a two step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA. Exhibits a post-transfer editing activity to hydrolyze mischarged tRNAs. 2WFD NM_020117.9 108773810 LARS 5 5q32 LARS HGNC:6512 true hsa:51520 NP_064502.9:NM_020117.9 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 616 CDBP00615 Ubiquitin-conjugating enzyme E2 C O00762 UBE2C_HUMAN true false Enzyme Homo_sapiens UBE2C 179 19652.13 7.371 Involved in ubiquitin-protein ligase activity Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-11'- and 'Lys-48'-linked polyubiquitination. Acts as an essential factor of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated ubiquitin ligase that controls progression through mitosis. Acts by initiating 'Lys-11'-linked polyubiquitin chains on APC/C substrates, leading to the degradation of APC/C substrates by the proteasome and promoting mitotic exit. 1I7K NM_007019.2 5902146 UBE2C 20 20q13.12 UBE2C HGNC:15937 true hsa:11065 NP_008950.1:NM_007019.2;NP_861515.1:NM_181799.1;NP_861516.1:NM_181800.1;NP_861517.1:NM_181801.2 Component of the APC/C complex 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 617 CDBP00616 cAMP-specific 3',5'-cyclic phosphodiesterase 4A P27815 PDE4A_HUMAN true false Enzyme Homo_sapiens PDE4A 886 98142.155 5.211 Involved in 3',5'-cyclic-nucleotide phosphodiesterase activity Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. 2QYK;3I8V;3TVX L20965 PDE4A 19 19p13.2 PDE4A HGNC:8780 true hsa:5141 NP_001104777.1:NM_001111307.1;NP_001104778.1:NM_001111308.1;NP_001104779.1:NM_001111309.1;NP_001230050.1:NM_001243121.1;NP_006193.1:NM_006202.2 Isoform 1 is widely expressed. Isoform 2 is abundant in liver, stomach, testis, thyroid and adrenal glands. It is also found in placenta, kidney, pancreas, ovary, uterus, skin, monocytes, mast cells, macrophages, as well as in bronchial smooth muscle. Isoform 6 is expressed at high levels in the heart and small intestine. It is also found in the brain, kidney, spleen, colon, salivary gland, ovary and peripheral blood lymphocytes. Isoform 7 is expressed predominantly in skeletal muscle and brain and at lower levels in the testis. Isoform 7 is expressed in the brain. Found in specific neuronal subpopulations in cortex, spinal cord and cerebellum (at protein level). divalent metal cations . Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions Isoform 1 interacts with LYN. Isoform 2 and isoform 6 interact weakly with LYN. Isoform 1, isoform 2 and isoform 6 interact with ARRB2 2020-06-12T23:06:50Z 2020-07-28T02:25:46Z 0 1 0 618 CDBP00617 Valine--tRNA ligase P26640 SYVC_HUMAN true false Enzyme Homo_sapiens VARS 1264 140474.755 7.59 Involved in nucleotide binding AF134726 4529896 VARS 6 6p21.3 VARS HGNC:12651 true hsa:7407 NP_006286.1:NM_006295.2 Forms high-molecular-mass aggregates with elongation factor 1 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 619 CDBP00618 Adenylate kinase isoenzyme 5 Q9Y6K8 KAD5_HUMAN true false Enzyme Homo_sapiens AK5 562 60313.985 5.082 Involved in ATP binding Active on AMP and dAMP with ATP as a donor. When GTP is used as phosphate donor, the enzyme phosphorylates AMP, CMP, and to a small extent dCMP. 2BWJ NM_174858.1 28144897 AK5 1 1p31 AK5 HGNC:365 true hsa:26289 NP_036225.2:NM_012093.3;NP_777283.1:NM_174858.2 Brain specific. Monomer 2020-06-12T23:06:50Z 2020-07-28T02:25:46Z 0 0 0 620 CDBP00619 Selenide, water dikinase 1 P49903 SPS1_HUMAN true false Enzyme Homo_sapiens SEPHS1 392 42910.325 5.972 Involved in catalytic activity Synthesizes selenophosphate from selenide and ATP. 3FD5;3FD6 AL138764 55957750 SEPHS1 10 10p14 SEPHS1 HGNC:19685 true hsa:22929 NP_036379.2:NM_012247.4 Homodimer 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 621 CDBP00620 Ubiquitin-conjugating enzyme E2 N P61088 UBE2N_HUMAN true false Enzyme Homo_sapiens UBE2N 152 17137.625 6.567 Involved in acid-amino acid ligase activity The UBE2V1-UBE2N and UBE2V2-UBE2N heterodimers catalyze the synthesis of non-canonical 'Lys-63'-linked polyubiquitin chains. This type of polyubiquitination does not lead to protein degradation by the proteasome. Mediates transcriptional activation of target genes. Plays a role in the control of progress through the cell cycle and differentiation. Plays a role in the error-free DNA repair pathway and contributes to the survival of cells after DNA damage. Acts together with the E3 ligases, HLTF and SHPRH, in the 'Lys-63'-linked poly-ubiquitination of PCNA upon genotoxic stress, which is required for DNA repair. Appears to act together with E3 ligase RNF5 in the 'Lys-63'-linked polyubiquitination of JKAMP thereby regulating JKAMP function by decreasing its association with components of the proteasome and ERAD. Promotes TRIM5 capsid-specific restriction activity and the UBE2V1-UBE2N heterodimer acts in concert with TRIM5 to generate 'Lys-63'-linked polyubiquitin chains which activate the MAP3K7/TAK1 complex which in turn results in the induction and expression of NF-kappa-B and MAPK-responsive inflammatory genes (By similarity). 1J7D;2C2V;3HCT;3HCU;3VON;4DHI;4DHJ;4DHZ;4EPO BC000396 12653255 UBE2N 12 12q22 UBE2N HGNC:12492 true hsa:7334 NP_003339.1:NM_003348.3 Heterodimer with UBE2V2. Interacts (UBE2V2-UBE2N heterodimer) with the E3 ligase STUB1 (via the U-box domain); the complex has a specific 'Lys-63'-linked polyubiquitination activity. Interacts with RNF8 and RNF168. Interacts with RNF11. Interacts with the E3 ligases, HLTF and SHPRH; the interactions promote the 'Lys-63'-linked polyubiquitination of PCNA upon genotoxic stress and lead to DNA repair. Interacts with ARIH2 (via RING-type 2). Interacts with OTUB1; leading to inhibit E2-conjugating activity 2020-06-12T23:06:50Z 2020-07-28T02:25:46Z 1 0 1 622 CDBP00621 cGMP-specific 3',5'-cyclic phosphodiesterase O76074 PDE5A_HUMAN true false Enzyme Homo_sapiens PDE5A 875 99984.14 6.09 Involved in catalytic activity Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This phosphodiesterase catalyzes the specific hydrolysis of cGMP to 5'-GMP. 1RKP;1T9R;1T9S;1TBF;1UDT;1UDU;1UHO;1XOZ;1XP0;2CHM;2H40;2H42;2H44;2XSS;3B2R;3BJC;3HC8;3HDZ;3JWQ;3JWR;3LFV;3MF0;3SHY;3SHZ;3SIE;3TGE;3TGG;3TSE;3TSF AF043731 PDE5A 4 4q27 PDE5A HGNC:8784 true hsa:8654 NP_001074.2:NM_001083.3;NP_236914.2:NM_033430.2;NP_246273.2:NM_033437.3 Expressed in aortic smooth muscle cells, heart, placenta, skeletal muscle and pancreas and, to a much lesser extent, in brain, liver and lung. divalent metal cations . Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions 2020-06-12T23:06:50Z 2020-07-28T02:25:46Z 0 1 0 623 CDBP00622 Argininosuccinate synthase P00966 ASSY_HUMAN true false Enzyme Homo_sapiens ASS1 412 46530.055 8.022 Involved in argininosuccinate synthase activity 2NZ2 X01630 28872 ASS1 9 9q34.1 ASS1 HGNC:758 true hsa:445 HS05425-MONOMER NP_000041.2:NM_000050.4;NP_446464.1:NM_054012.3 Homotetramer. Interacts with NMRAL1 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 624 CDBP00623 AMP deaminase 1 P23109 AMPD1_HUMAN true false Enzyme Homo_sapiens AMPD1 747 90218.455 6.993 Involved in deaminase activity AMP deaminase plays a critical role in energy metabolism. M60092 178544 AMPD1 1 1p13 AMPD1 HGNC:468 true hsa:270 NP_000027.2:NM_000036.2;NP_001166097.1:NM_001172626.1 Three isoforms are present in mammals: AMP deaminase 1 is the predominant form in skeletal muscle; AMP deaminase 2 predominates in smooth muscle, non-muscle tissue, embryonic muscle and undifferentiated myoblasts; AMP deaminase 3 is found in erythrocytes. zinc ion Homotetramer 2020-06-12T23:06:50Z 2020-07-28T02:25:46Z 0 1 0 625 CDBP00624 Selenide, water dikinase 2 Q99611 SPS2_HUMAN true false Enzyme Homo_sapiens SEPHS2 448 47304.695 5.88 Involved in catalytic activity Synthesizes selenophosphate from selenide and ATP. U43286 SEPHS2 16 16p11.2 SEPHS2 HGNC:19686 true hsa:22928 NP_036380.2:NM_012248.2 2020-06-12T23:06:50Z 2020-06-12T23:06:50Z 0 0 0 626 CDBP00625 DNA ligase 1 P18858 DNLI1_HUMAN true false Enzyme Homo_sapiens LIG1 919 101735.11 5.62 Involved in DNA ligase (ATP) activity DNA ligase that seals nicks in double-stranded DNA during DNA replication, DNA recombination and DNA repair. 1X9N M36067 187143 LIG1 19 19q13.2-q13.3 LIG1 HGNC:6598 true hsa:3978 NP_000225.1:NM_000234.1 Magnesium 2020-06-12T23:06:50Z 2020-07-28T02:25:47Z 0 1 1 627 CDBP00626 Putative adenosylhomocysteinase 3 Q96HN2 SAHH3_HUMAN true false Enzyme Homo_sapiens AHCYL2 611 66592.445 7.36 Involved in adenosylhomocysteinase activity 3GVP NM_015328.3 24308043 AHCYL2 7 7q32.1 AHCYL2 HGNC:22204 true hsa:23382 NP_001124192.1:NM_001130720.2;NP_001124194.2:NM_001130722.2;NP_001124195.1:NM_001130723.2;NP_056143.1:NM_015328.3 NAD Homotetramer (Probable) 2020-06-12T23:06:50Z 2020-07-28T02:25:47Z 0 0 0 628 CDBP00627 Adenosylhomocysteinase P23526 SAHH_HUMAN true false Enzyme Homo_sapiens AHCY 432 47715.715 6.341 Involved in adenosylhomocysteinase activity Adenosylhomocysteine is a competitive inhibitor of S-adenosyl-L-methionine-dependent methyl transferase reactions; therefore adenosylhomocysteinase may play a key role in the control of methylations via regulation of the intracellular concentration of adenosylhomocysteine. 1A7A;1LI4;3NJ4 M61831 178277 AHCY 20 20q11.22 AHCY HGNC:343 true hsa:191 NP_000678.1:NM_000687.2;NP_001155238.1:NM_001161766.1 NAD Homotetramer 2020-06-12T23:06:50Z 2020-07-28T02:25:47Z 0 0 0 629 CDBP00628 Putative adenosylhomocysteinase 2 O43865 SAHH2_HUMAN true true Enzyme Homo_sapiens AHCYL1 530 53753.0 7.44 Involved in adenosylhomocysteinase activity 3MTG AF315687 16588687 AHCYL1 1 1p13.2 AHCYL1 HGNC:344 true hsa:10768 NP_001229602.1:NM_001242673.1;NP_001229603.1:NM_001242674.1;NP_001229604.1:NM_001242675.1;NP_001229605.1:NM_001242676.1;NP_006612.2:NM_006621.5 Expressed in dendritic cells. NAD Interacts with ITPR1. Competes with IP3 for interaction with ITPR1 and attenuates IP3-induced Ca(2+) release through the ITPR1 from the non-mitochondrial intracellular stores 2020-06-12T23:06:50Z 2020-07-28T02:25:47Z 0 0 0 630 CDBP00629 Adenosine deaminase P00813 ADA_HUMAN true false Enzyme Homo_sapiens ADA 363 40764.13 5.944 Involved in deaminase activity Catalyzes the hydrolytic deamination of adenosine and 2-deoxyadenosine. Plays an important role in purine metabolism and in adenosine homeostasis. Modulates signaling by extracellular adenosine, and so contributes indirectly to cellular signaling events. Acts as a positive regulator of T-cell coactivation, by binding DPP4. Its interaction with DPP4 regulates lymphocyte-epithelial cell adhesion. 1M7M;3IAR X02994 28380 ADA 20 20q13.12 ADA HGNC:186 true hsa:100 HS02191-MONOMER NP_000013.2:NM_000022.2 Found in all tissues, occurs in large amounts in T-lymphocytes and, at the time of weaning, in gastrointestinal tissues. zinc ion Interacts with DPP4 (extracellular domain) 2020-06-12T23:06:50Z 2020-07-28T02:25:47Z 1 1 0 631 CDBP00630 Protein-glutamine gamma-glutamyltransferase E Q08188 TGM3_HUMAN true false Enzyme Homo_sapiens TGM3 693 76631.26 5.864 Involved in protein-glutamine gamma-glutamyltransferase activity Catalyzes the calcium-dependent formation of isopeptide cross-links between glutamine and lysine residues in various proteins, as well as the conjugation of polyamines to proteins. Involved in the formation of the cornified envelope (CE), a specialized component consisting of covalent cross-links of proteins beneath the plasma membrane of terminally differentiated keratinocytes. Catalyzes small proline-rich proteins (SPRR1 and SPRR2) and LOR cross-linking to form small interchain oligomers, which are further cross-linked by TGM1 onto the growing CE scaffold (By similarity). In hair follicles, involved in cross-linking structural proteins to hardening the inner root sheath. 1L9M;1L9N;1NUD;1NUF;1NUG;1RLE;1SGX;1VJJ L10386 307504 TGM3 20 20q11.2 TGM3 HGNC:11779 true hsa:7053 NP_003236.3:NM_003245.3 calcium ion Consists of two polypeptide chains, which are synthesized as a precursor form of a single polypeptide 2020-06-12T23:06:50Z 2020-07-28T02:25:47Z 0 0 0 632 CDBP00631 Glutamate dehydrogenase 2, mitochondrial P49448 DHE4_HUMAN true false Enzyme Homo_sapiens GLUD2 558 61433.465 8.461 Involved in oxidoreductase activity Important for recycling the chief excitatory neurotransmitter, glutamate, during neurotransmission. AK313356 GLUD2 X Xq24-q25 GLUD2 HGNC:4336 true hsa:2747 HS00018-MONOMER NP_036216.2:NM_012084.3 Expressed in retina, testis and, at a lower level, brain. Homohexamer 2020-06-12T23:06:50Z 2020-07-28T02:25:47Z 0 0 0 633 CDBP00632 Protein-glutamine gamma-glutamyltransferase 2 P21980 TGM2_HUMAN true false Enzyme Homo_sapiens TGM2 687 77328.21 5.219 Involved in protein-glutamine gamma-glutamyltransferase activity Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. 1FAU;1KV3;2Q3Z;3LY6;3S3J;3S3P;3S3S AK291714 158256860 TGM2 20 20q12 TGM2 HGNC:11778 true hsa:7052 NP_004604.2:NM_004613.2;NP_945189.1:NM_198951.1 calcium ion Monomer 2020-06-12T23:06:50Z 2020-07-28T02:25:47Z 0 1 0 634 CDBP00633 Protein-arginine deiminase type-6 Q6TGC4 PADI6_HUMAN true false Enzyme Homo_sapiens PADI6 686 77726.735 5.271 Involved in protein-arginine deiminase activity Catalyzes the deimination of arginine residues of proteins. May be involved in cytoskeletal reorganization in the egg and early embryo (By similarity). 4DAT;4DAU AY443100 117414158 PADI6 1 1p36.13 PADI6 HGNC:20449 true hsa:353238 G66-31585-MONOMER NP_997304.3:NM_207421.3 Ovary, testis and peripheral blood leukocytes. Calcium 2020-06-12T23:06:50Z 2020-07-28T02:25:47Z 0 1 0 635 CDBP00634 Glutamine synthetase P15104 GLNA_HUMAN true false Enzyme Homo_sapiens GLUL 373 42064.15 6.885 Involved in glutamate-ammonia ligase activity This enzyme has 2 functions: it catalyzes the production of glutamine and 4-aminobutanoate (gamma-aminobutyric acid, GABA), the latter in a pyridoxal phosphate-independent manner (By similarity). Essential for proliferation of fetal skin fibroblasts. 2OJW;2QC8 Y00387 31833 GLUL 1 1q31 GLUL HGNC:4341 true hsa:2752 HS06066-MONOMER NP_001028216.1:NM_001033044.2;NP_001028228.1:NM_001033056.2;NP_002056.2:NM_002065.5 Biotin;Magnesium or manganese Homooctamer and homotetramer. Interacts with PALMD 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 636 CDBP00635 L-serine dehydratase/L-threonine deaminase P20132 SDHL_HUMAN true false Enzyme Homo_sapiens SDS 328 34625.105 8.01 Involved in catalytic activity 1P5J;4H27 AK292760 158258957 SDS 12 12q24.13 SDS HGNC:10691 true hsa:10993 NP_006834.2:NM_006843.2 Pyridoxal phosphate Homodimer 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 637 CDBP00636 Coagulation factor XIII A chain P00488 F13A_HUMAN false false Metal Binding Homo_sapiens F13A1 732 83267.785 5.995 Involved in protein-glutamine gamma-glutamyltransferase activity Factor XIII is activated by thrombin and calcium ion to a transglutaminase that catalyzes the formation of gamma-glutamyl-epsilon-lysine cross-links between fibrin chains, thus stabilizing the fibrin clot. Also cross-link alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin. 1EVU;1EX0;1F13;1FIE;1GGT;1GGU;1GGY;1QRK NM_000129.3 119395709 F13A1 6 6p25.3-p24.3 F13A1 HGNC:3531 true hsa:2162 NP_000120.2:NM_000129.3 calcium ion Tetramer of two A chains and two B chains 2020-06-12T23:06:51Z 2020-07-28T02:31:56Z 0 1 0 638 CDBP00637 Protein-arginine deiminase type-4 Q9UM07 PADI4_HUMAN true false Enzyme Homo_sapiens PADI4 663 74078.65 6.584 Involved in protein-arginine deiminase activity Catalyzes the citrullination/deimination of arginine residues of proteins. Citrullinates histone H3 at 'Arg-8' and/or 'Arg-17' and histone H4 at 'Arg-3', which prevents their methylation by CARM1 and HRMT1L2/PRMT1 and represses transcription. Citrullinates EP300/P300 at 'Arg-2142', which favors its interaction with NCOA2/GRIP1. 1WD8;1WD9;1WDA;2DEW;2DEX;2DEY;2DW5;3APM;3APN;3B1T;3B1U;4DKT AB017919 5913971 PADI4 1 1p36.13 PADI4 HGNC:18368 true hsa:23569 HS08389-MONOMER NP_036519.2:NM_012387.2 Expressed in eosinophils and neutrophils, not expressed in peripheral monocytes or lymphocytes. calcium ions 2020-06-12T23:06:51Z 2020-07-28T02:25:48Z 0 1 1 639 CDBP00638 Pyridoxine-5'-phosphate oxidase Q9NVS9 PNPO_HUMAN true false Enzyme Homo_sapiens PNPO 261 29987.79 7.071 Involved in pyridoxamine-phosphate oxidase activity Catalyzes the oxidation of either pyridoxine 5'-phosphate (PNP) or pyridoxamine 5'-phosphate (PMP) into pyridoxal 5'-phosphate (PLP). 1NRG;3HY8 AF468030 PNPO 17 17q21.32 PNPO HGNC:30260 true hsa:55163 NP_060599.1:NM_018129.3 FMN Homodimer 2020-06-12T23:06:51Z 2020-07-28T02:25:48Z 0 0 0 640 CDBP00639 Glutaminase liver isoform, mitochondrial Q9UI32 GLSL_HUMAN true false Enzyme Homo_sapiens GLS2 602 66322.225 7.301 Involved in glutaminase activity Plays an important role in the regulation of glutamine catabolism. Promotes mitochondrial respiration and increases ATP generation in cells by catalyzing the synthesis of glutamate and alpha-ketoglutarate. Increases cellular anti-oxidant function via NADH and glutathione production. May play a role in preventing tumor proliferation. AF110330 6650606 GLS2 12 12q13 GLS2 HGNC:29570 true hsa:27165 NP_037399.2:NM_013267.2 Highly expressed in liver. Expressed in brain and pancreas. Not observed in heart, placenta, lung, skeletal muscle and kidney. Expression is significantly reduced in hepatocellular carcinomas. Interacts with the PDZ domain of the syntrophin SNTA1. Interacts with the PDZ domain of TAX1BP3 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 641 CDBP00640 CTP synthase 1 P17812 PYRG1_HUMAN true false Enzyme Homo_sapiens CTPS1 591 66689.9 6.455 Involved in CTP synthase activity Catalyzes the ATP-dependent amination of UTP to CTP with either L-glutamine or ammonia as the source of nitrogen. 2VO1 X52142 30293 CTPS 1 1p34.1 CTPS HGNC:2519 true hsa:1503 HS10382-MONOMER NP_001896.2:NM_001905.2 2020-06-12T23:06:51Z 2020-07-28T02:25:48Z 0 0 0 642 CDBP00641 Protein-arginine deiminase type-3 Q9ULW8 PADI3_HUMAN true false Enzyme Homo_sapiens PADI3 664 74742.705 5.539 Involved in protein-arginine deiminase activity Catalyzes the deimination of arginine residues of proteins. AB026831 6172379 PADI3 1 1p36.13 PADI3 HGNC:18337 true hsa:51702 HS06944-MONOMER NP_057317.2:NM_016233.2 Hair follicles, and epidermis at very low levels. Calcium 2020-06-12T23:06:51Z 2020-07-28T02:25:48Z 0 1 0 643 CDBP00642 GMP reductase 2 Q9P2T1 GMPR2_HUMAN true false Enzyme Homo_sapiens GMPR2 348 37874.125 7.223 Involved in catalytic activity Catalyzes the irreversible NADPH-dependent deamination of GMP to IMP. It functions in the conversion of nucleobase, nucleoside and nucleotide derivatives of G to A nucleotides, and in maintaining the intracellular balance of A and G nucleotides. Plays a role in modulating cellular differentiation. 2A7R;2BZN;2C6Q AF419346 GMPR2 14 14q12 GMPR2 HGNC:4377 true hsa:51292 NP_001002000.1:NM_001002000.1;NP_001002001.1:NM_001002001.1;NP_001002002.1:NM_001002002.1;NP_057660.2:NM_016576.3 Highly expressed in heart, skeletal muscle, kidney, brain, liver, prostate, spleen, placenta, testis and ovary. Low expression in colon, thymus and peripheral blood leukocytes. 2020-06-12T23:06:51Z 2020-07-28T02:25:48Z 0 1 0 644 CDBP00643 Protein-glutamine gamma-glutamyltransferase 5 O43548 TGM5_HUMAN true false Enzyme Homo_sapiens TGM5 720 71918.045 6.359 Involved in protein-glutamine gamma-glutamyltransferase activity Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Contributes to the formation of the cornified cell envelope of keratinocytes. AF035960 2895530 TGM5 15 15q15.2 TGM5 HGNC:11781 true hsa:9333 NP_004236.1:NM_004245.3;NP_963925.2:NM_201631.3 Expressed in foreskin keratinocytes. calcium ion 2020-06-12T23:06:51Z 2020-07-28T02:25:48Z 0 1 0 645 CDBP00644 Glutaminase kidney isoform, mitochondrial O94925 GLSK_HUMAN true false Enzyme Homo_sapiens GLS 669 65459.525 7.885 Involved in glutaminase activity Catalyzes the first reaction in the primary pathway for the renal catabolism of glutamine. Plays a role in maintaining acid-base homeostasis. Regulates the levels of the neurotransmitter glutamate in the brain. Isoform 2 lacks catalytic activity. 3CZD;3UNW;3UO9;3VOY;3VOZ;3VP0;3VP1;3VP2;3VP3;3VP4 NM_014905.3 156104878 GLS 2 2q32-q34 GLS HGNC:4331 true hsa:2744 NP_001243239.1:NM_001256310.1;NP_055720.3:NM_014905.4 Isoform 1 and isoform 3 are detected in brain cortex. Isoform 3 is highly expressed in astrocytoma, ganglioglioma and ependymoma. Isoform 1 is highly expressed in brain and kidney, but not detected in liver. Isoform 3 is highly expressed in heart and pancreas, detected at lower levels in placenta, lung, pancreas and kidney, but is not detected in liver. Isoform 2 is expressed in cardiac and skeletal muscle. Heterotetramer. Interacts with ATCAY; the interaction is direct and may control GLS localization, negatively regulating its activity 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 646 CDBP00645 Protein-glutamine gamma-glutamyltransferase 4 P49221 TGM4_HUMAN true false Enzyme Homo_sapiens TGM4 684 77144.595 6.76 Involved in protein-glutamine gamma-glutamyltransferase activity Associated with the mammalian reproductive process. Catalyzes the cross-linking of proteins and the conjugation of polyamines to specific proteins in the seminal tract. L34840 TGM4 3 3p22-p21.33 TGM4 HGNC:11780 true hsa:7047 NP_003232.2:NM_003241.3 Prostate. calcium ion Homodimer 2020-06-12T23:06:51Z 2020-07-28T02:25:48Z 0 1 0 647 CDBP00646 Protein-glutamine gamma-glutamyltransferase K P22735 TGM1_HUMAN true false Enzyme Homo_sapiens TGM1 817 89786.14 6.037 Involved in protein-glutamine gamma-glutamyltransferase activity Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Responsible for cross-linking epidermal proteins during formation of the stratum corneum. 2XZZ M55183 TGM1 14 14q11.2 TGM1 HGNC:11777 true hsa:7051 NP_000350.1:NM_000359.2 calcium ion 2020-06-12T23:06:51Z 2020-07-28T02:25:48Z 0 1 0 648 CDBP00647 Histidine ammonia-lyase P42357 HUTH_HUMAN true false Enzyme Homo_sapiens HAL 657 49122.09 6.665 Involved in histidine ammonia-lyase activity D16626 HAL 12 12q22-q24.1 HAL HGNC:4806 true hsa:3034 HS01466-MONOMER NP_001245262.1:NM_001258333.1;NP_001245263.1:NM_001258334.1;NP_002099.1:NM_002108.3 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 649 CDBP00648 Protein-arginine deiminase type-2 Q9Y2J8 PADI2_HUMAN true false Enzyme Homo_sapiens PADI2 665 75563.35 5.595 Involved in protein-arginine deiminase activity Catalyzes the deimination of arginine residues of proteins (By similarity). NM_007365.2 122939159 PADI2 1 1p36.13 PADI2 HGNC:18341 true hsa:11240 HS04094-MONOMER NP_031391.2:NM_007365.2 Calcium 2020-06-12T23:06:51Z 2020-07-28T02:25:48Z 0 1 0 650 CDBP00649 GMP reductase 1 P36959 GMPR1_HUMAN true false Enzyme Homo_sapiens GMPR 345 37418.58 7.068 Involved in catalytic activity Catalyzes the irreversible NADPH-dependent deamination of GMP to IMP. It functions in the conversion of nucleobase, nucleoside and nucleotide derivatives of G to A nucleotides, and in maintaining the intracellular balance of A and G nucleotides. 2BLE;2BWG AL009031 56001065 GMPR 6 6p23 GMPR HGNC:4376 true hsa:2766 NP_006868.3:NM_006877.3 Homotetramer 2020-06-12T23:06:51Z 2020-07-28T02:25:48Z 0 1 0 651 CDBP00650 Formimidoyltransferase-cyclodeaminase O95954 FTCD_HUMAN true false Enzyme Homo_sapiens FTCD 541 58925.93 5.742 Involved in catalytic activity Folate-dependent enzyme, that displays both transferase and deaminase activity. Serves to channel one-carbon units from formiminoglutamate to the folate pool. Binds and promotes bundling of vimentin filaments originating from the Golgi (By similarity). AF169017 6537208 FTCD 21 21q22.3 FTCD HGNC:3974 true hsa:10841 NP_006648.1:NM_006657.2;NP_996848.1:NM_206965.1 Pyridoxal phosphate Homooctamer, including four polyglutamate binding sites. The subunits are arranged as a tetramer of dimers, and form a planar ring-shaped structure 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 652 CDBP00651 Protein-arginine deiminase type-1 Q9ULC6 PADI1_HUMAN true false Enzyme Homo_sapiens PADI1 663 74664.97 6.498 Involved in protein-arginine deiminase activity Catalyzes the deimination of arginine residues of proteins (By similarity). AB033768 6116899 PADI1 1 1p36.13 PADI1 HGNC:18367 true hsa:29943 HS06945-MONOMER NP_037490.2:NM_013358.2 Epidermis, prostate, testis, placenta, spleen and thymus. Calcium 2020-06-12T23:06:51Z 2020-07-28T02:25:48Z 0 1 0 653 CDBP00652 Aminomethyltransferase, mitochondrial P48728 GCST_HUMAN true false Enzyme Homo_sapiens AMT 403 43945.65 8.566 Involved in aminomethyltransferase activity The glycine cleavage system catalyzes the degradation of glycine. 1WSR;1WSV AK290600 158254632 AMT 3 3p21.2-p21.1 AMT HGNC:473 true hsa:275 NP_000472.2:NM_000481.3;NP_001158182.1:NM_001164710.1;NP_001158183.1:NM_001164711.1 The glycine cleavage system is composed of four proteins: P, T, L and H 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 654 CDBP00653 Glyceraldehyde-3-phosphate dehydrogenase, testis-specific O14556 G3PT_HUMAN true false Enzyme Homo_sapiens GAPDHS 408 44500.835 8.194 Involved in glyceraldehyde-3-phosphate dehydrogenase activity May play an important role in regulating the switch between different pathways for energy production during spermiogenesis and in the spermatozoon. Required for sperm motility and male fertility (By similarity). 3H9E;3PFW AJ005371 3046742 GAPDHS 19 19q13.12 GAPDHS HGNC:24864 true hsa:26330 NP_055179.1:NM_014364.4 Testis specific. Homotetramer. Interacts with ARRB2; the interaction is detected in the nucleus upon OR1D2 stimulation 2020-06-12T23:06:51Z 2020-07-28T02:25:49Z 0 0 0 655 CDBP00654 Guanine deaminase Q9Y2T3 GUAD_HUMAN true false Enzyme Homo_sapiens GDA 454 52836.65 5.845 Involved in hydrolase activity Catalyzes the hydrolytic deamination of guanine, producing xanthine and ammonia (By similarity). 2UZ9;3E0L;4AQL NM_004293.3 4758426 GDA 9 9q21.13 GDA HGNC:4212 true hsa:9615 HS04276-MONOMER NP_001229434.1:NM_001242505.2;NP_001229435.1:NM_001242506.2;NP_001229436.1:NM_001242507.2;NP_004284.1:NM_004293.4 zinc ion Homodimer 2020-06-12T23:06:51Z 2020-07-28T02:25:49Z 0 1 0 656 CDBP00655 Protein-glutamine gamma-glutamyltransferase 6 O95932 TGM3L_HUMAN true false Enzyme Homo_sapiens TGM6 706 70515.44 7.798 Involved in protein-glutamine gamma-glutamyltransferase activity Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins (By similarity). AF540969 33331030 TGM6 20 20p13 TGM6 HGNC:16255 true hsa:343641 NP_001241663.1:NM_001254734.1;NP_945345.2:NM_198994.2 calcium ion 2020-06-12T23:06:51Z 2020-07-28T02:25:49Z 0 1 0 657 CDBP00656 Glutaminyl-peptide cyclotransferase Q16769 QPCT_HUMAN true false Enzyme Homo_sapiens QPCT 361 40876.14 6.612 Involved in peptidase activity Responsible for the biosynthesis of pyroglutamyl peptides. Has a bias against acidic and tryptophan residues adjacent to the N-terminal glutaminyl residue and a lack of importance of chain length after the second residue. Also catalyzes N-terminal pyroglutamate formation. In vitro, catalyzes pyroglutamate formation of N-terminally truncated form of APP amyloid-beta peptides [Glu-3]-beta-amyloid. May be involved in the N-terminal pyroglutamate formation of several amyloid-related plaque-forming peptides. 1MOI;2AFM;2AFO;2AFS;2AFU;2AFW;2AFX;2AFZ;2ZED;2ZEE;2ZEF;2ZEG;2ZEH;2ZEL;2ZEM;2ZEN;2ZEO;2ZEP;3PBB;3PBE;3SI0 X71125 296949 QPCT 2 2p22.2 QPCT HGNC:9753 true hsa:25797 NP_036545.1:NM_012413.3 zinc ion 2020-06-12T23:06:51Z 2020-07-28T02:25:49Z 0 1 0 658 CDBP00657 Protein-glutamine gamma-glutamyltransferase Z Q96PF1 TGM7_HUMAN true false Enzyme Homo_sapiens TGM7 710 79940.615 7.0 Involved in protein-glutamine gamma-glutamyltransferase activity Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. AF363393 15425755 TGM7 15 15q15.2 TGM7 HGNC:30790 true hsa:116179 NP_443187.1:NM_052955.2 Widely expressed. calcium ion 2020-06-12T23:06:51Z 2020-07-28T02:25:49Z 0 1 0 659 CDBP00658 Glutamate dehydrogenase 1, mitochondrial P00367 DHE3_HUMAN true false Enzyme Homo_sapiens GLUD1 558 61397.315 7.803 Involved in oxidoreductase activity May be involved in learning and memory reactions by increasing the turnover of the excitatory neurotransmitter glutamate (By similarity). 1L1F;1NR1 X07674 31707 GLUD1 10 10q23.3 GLUD1 HGNC:4335 true hsa:2746 HS07548-MONOMER NP_005262.1:NM_005271.3 Homohexamer 2020-06-12T23:06:51Z 2020-07-28T02:25:49Z 0 0 0 660 CDBP00659 Glyceraldehyde-3-phosphate dehydrogenase P04406 G3P_HUMAN true false Enzyme Homo_sapiens GAPDH 335 31547.76 7.604 Involved in glyceraldehyde-3-phosphate dehydrogenase activity Has both glyceraldehyde-3-phosphate dehydrogenase and nitrosylase activities, thereby playing a role in glycolysis and nuclear functions, respectively. Participates in nuclear events including transcription, RNA transport, DNA replication and apoptosis. Nuclear functions are probably due to the nitrosylase activity that mediates cysteine S-nitrosylation of nuclear target proteins such as SIRT1, HDAC2 and PRKDC. Modulates the organization and assembly of the cytoskeleton. Facilitates the CHP1-dependent microtubule and membrane associations through its ability to stimulate the binding of CHP1 to microtubules (By similarity). Glyceraldehyde-3-phosphate dehydrogenase is a key enzyme in glycolysis that catalyzes the first step of the pathway by converting D-glyceraldehyde 3-phosphate (G3P) into 3-phospho-D-glyceroyl phosphate. Component of the GAIT (gamma interferon-activated inhibitor of translation) complex which mediates interferon-gamma-induced transcript-selective translation inhibition in inflammation processes. Upon interferon-gamma treatment assembles into the GAIT complex which binds to stem loop-containing GAIT elements in the 3'-UTR of diverse inflammatory mRNAs (such as ceruplasmin) and suppresses their translation. 1U8F;1ZNQ;2FEH;3GPD AB062273 21104392 GAPDH 12 12p13 GAPDH HGNC:4141 true hsa:2597 HS03433-MONOMER NP_001243728.1:NM_001256799.1;NP_002037.2:NM_002046.4 Homotetramer. Interacts with TPPP; the interaction is direct. Interacts (when S-nitrosylated) with SIAH1; leading to nuclear translocation. Interacts with RILPL1/GOSPEL, leading to prevent the interaction between GAPDH and SIAH1 and prevent nuclear translocation. Interacts with CHP1; the interaction increases the binding of CHP1 with microtubules. Associates with microtubules . Interacts with EIF1AD, USP25, PRKCI and WARS. Component of the GAIT complex 2020-06-12T23:06:51Z 2020-07-28T02:25:49Z 0 0 0 661 CDBP00660 Protein-lysine 6-oxidase P28300 LYOX_HUMAN true false Enzyme Homo_sapiens LOX 417 46943.67 8.083 Involved in copper ion binding Responsible for the post-translational oxidative deamination of peptidyl lysine residues in precursors to fibrous collagen and elastin. In addition to cross-linking of extracellular matrix proteins, may have a direct role in tumor suppression. AF039291 4104739 LOX 5 5q23.2 LOX HGNC:6664 true hsa:4015 NP_002308.2:NM_002317.5 Heart, placenta, skeletal muscle, kidney, lung and pancreas. Copper;Contains 1 lysine tyrosylquinone 2020-06-12T23:06:51Z 2020-07-28T02:25:49Z 0 1 0 662 CDBP00661 Argininosuccinate lyase P04424 ARLY_HUMAN true false Enzyme Homo_sapiens ASL 464 51657.505 6.48 Involved in argininosuccinate lyase activity 1AOS;1K62 Y00753 28878 ASL 7 7q11.21 ASL HGNC:746 true hsa:435 HS10034-MONOMER NP_000039.2:NM_000048.3;NP_001020114.1:NM_001024943.1 Homotetramer 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 663 CDBP00662 3-oxo-5-alpha-steroid 4-dehydrogenase 2 P31213 S5A2_HUMAN true false Enzyme Homo_sapiens SRD5A2 254 28407.035 9.395 Involved in 3-oxo-5-alpha-steroid 4-dehydrogenase activity Converts testosterone (T) into 5-alpha-dihydrotestosterone (DHT) and progesterone or corticosterone into their corresponding 5-alpha-3-oxosteroids. It plays a central role in sexual differentiation and androgen physiology. M74047 338469 SRD5A2 2 2p23 SRD5A2 HGNC:11285 true hsa:6716 NP_000339.2:NM_000348.3 Expressed in high levels in the prostate and many other androgen-sensitive tissues. 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 664 CDBP00663 3-oxo-5-alpha-steroid 4-dehydrogenase 1 P18405 S5A1_HUMAN true false Enzyme Homo_sapiens SRD5A1 259 29458.18 8.942 Involved in 3-oxo-5-alpha-steroid 4-dehydrogenase activity Converts testosterone into 5-alpha-dihydrotestosterone and progesterone or corticosterone into their corresponding 5-alpha-3-oxosteroids. It plays a central role in sexual differentiation and androgen physiology. M32313 SRD5A1 5 5p15 SRD5A1 HGNC:11284 true hsa:6715 NP_001038.1:NM_001047.2 Liver and prostate (at a low level). 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 665 CDBP00664 Biliverdin reductase A P53004 BIEA_HUMAN true false Enzyme Homo_sapiens BLVRA 296 33428.225 6.449 Involved in biliverdin reductase activity Reduces the gamma-methene bridge of the open tetrapyrrole, biliverdin IX alpha, to bilirubin with the concomitant oxidation of a NADH or NADPH cofactor. 2H63 NM_000712.3 33589854 BLVRA 7 7p13 BLVRA HGNC:1062 true hsa:644 HS02928-MONOMER NP_000703.2:NM_000712.3;NP_001240752.1:NM_001253823.1 Liver. zinc ion Monomer 2020-06-12T23:06:51Z 2020-07-28T02:25:50Z 0 1 0 666 CDBP00665 Flavin reductase (NADPH) P30043 BLVRB_HUMAN true false Enzyme Homo_sapiens BLVRB 206 22119.215 7.643 Involved in catalytic activity Broad specificity oxidoreductase that catalyzes the NADPH-dependent reduction of a variety of flavins, such as riboflavin, FAD or FMN, biliverdins, methemoglobin and PQQ (pyrroloquinoline quinone). Contributes to heme catabolism and metabolizes linear tetrapyrroles. Can also reduce the complexed Fe(3+) iron to Fe(2+) in the presence of FMN and NADPH. In the liver, converts biliverdin to bilirubin. 1HDO;1HE2;1HE3;1HE4;1HE5 D26308 BLVRB 19 19q13.1-q13.2 BLVRB HGNC:1063 true hsa:645 NP_000704.1:NM_000713.2 Predominantly expressed in liver and erythrocytes. At lower levels in heart, lung, adrenal gland and cerebrum. Monomer 2020-06-12T23:06:51Z 2020-07-28T02:25:50Z 0 0 0 667 CDBP00666 Glutamate decarboxylase 2 Q05329 DCE2_HUMAN true false Enzyme Homo_sapiens GAD2 585 65410.77 6.899 Involved in carboxy-lyase activity Catalyzes the production of GABA. 1ES0;2OKK M81882 GAD2 10 10p11.23 GAD2 HGNC:4093 true hsa:2572 HS06208-MONOMER NP_000809.1:NM_000818.2;NP_001127838.1:NM_001134366.1 Pyridoxal phosphate Homodimer 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 668 CDBP00667 Glutamate decarboxylase 1 Q99259 DCE1_HUMAN true false Enzyme Homo_sapiens GAD1 594 66896.065 7.615 Involved in carboxy-lyase activity Catalyzes the production of GABA. 2OKJ;3VP6 AC007405 62988850 GAD1 2 2q31 GAD1 HGNC:4092 true hsa:2571 HS05215-MONOMER NP_000808.2:NM_000817.2;NP_038473.2:NM_013445.3 Isoform 3 is expressed in pancreatic islets, testis, adrenal cortex, and perhaps other endocrine tissues, but not in brain. Pyridoxal phosphate Homodimer 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 669 CDBP00668 Adenylate cyclase type 7 P51828 ADCY7_HUMAN true false Enzyme Homo_sapiens ADCY7 1080 120307.175 8.121 Involved in phosphorus-oxygen lyase activity This is a membrane-bound, calcium-inhibitable adenylyl cyclase. BC126271 116496681 ADCY7 16 16q12.1 ADCY7 HGNC:238 true hsa:113 NP_001105.1:NM_001114.3 magnesium ions 2020-06-12T23:06:51Z 2020-07-28T02:25:50Z 1 1 0 670 CDBP00669 Adenylate cyclase type 4 Q8NFM4 ADCY4_HUMAN true false Enzyme Homo_sapiens ADCY4 1077 119792.94 7.48 Involved in phosphorus-oxygen lyase activity This is a membrane-bound, calmodulin-insensitive adenylyl cyclase (By similarity). AF497516 22212709 ADCY4 14 14q12 ADCY4 HGNC:235 true hsa:196883 NP_001185497.1:NM_001198568.1;NP_001185521.1:NM_001198592.1;NP_640340.2:NM_139247.3 magnesium ions 2020-06-12T23:06:51Z 2020-07-28T02:25:50Z 1 1 0 671 CDBP00670 Adenylate cyclase type 6 O43306 ADCY6_HUMAN true false Enzyme Homo_sapiens ADCY6 1168 130614.095 8.219 Involved in phosphorus-oxygen lyase activity Membrane-bound, calcium-inhibitable adenylyl cyclase (By similarity). AF250226 ADCY6 12 12q12-q13 ADCY6 HGNC:237 true hsa:112 NP_056085.1:NM_015270.3;NP_066193.1:NM_020983.2 magnesium ions Part of a complex containing AKAP5, ADCY5, PDE4C and PKD2 . Interacts with RAF1 2020-06-12T23:06:51Z 2020-07-28T02:25:50Z 1 1 0 672 CDBP00671 Adenylate cyclase type 5 O95622 ADCY5_HUMAN true false Enzyme Homo_sapiens ADCY5 1261 102605.37 6.584 Involved in phosphorus-oxygen lyase activity This is a membrane-bound, calcium-inhibitable adenylyl cyclase. NM_183357.1 34486092 ADCY5 3 3q21.1 ADCY5 HGNC:236 true hsa:111 NP_001186571.1:NM_001199642.1;NP_899200.1:NM_183357.2 magnesium ions Part of a complex containing AKAP5, ADCY6, PDE4C and PKD2 . Interacts with RAF1 2020-06-12T23:06:51Z 2020-07-28T02:25:50Z 1 1 0 673 CDBP00672 Adenylate cyclase type 8 P40145 ADCY8_HUMAN true false Enzyme Homo_sapiens ADCY8 1251 140120.79 6.99 Involved in phosphorus-oxygen lyase activity This is a membrane-bound, calcium-stimulable adenylyl cyclase. May be involved in learning, in memory and in drug dependence (By similarity). Z35309 516263 ADCY8 8 8q24 ADCY8 HGNC:239 true hsa:114 NP_001106.1:NM_001115.2 magnesium ions 2020-06-12T23:06:51Z 2020-07-28T02:25:50Z 1 1 0 674 CDBP00673 Adenylate cyclase type 9 O60503 ADCY9_HUMAN true false Enzyme Homo_sapiens ADCY9 1353 150699.36 7.341 Involved in phosphorus-oxygen lyase activity May play a fundamental role in situations where fine interplay between intracellular calcium and cAMP determines the cellular function. May be a physiologically relevant docking site for calcineurin (By similarity). NM_001116.3 50959205 ADCY9 16 16p13.3 ADCY9 HGNC:240 true hsa:115 NP_001107.2:NM_001116.3 Expressed in multiple cells of the lung, with expression highest in airway smooth muscle. magnesium ions 2020-06-12T23:06:51Z 2020-07-28T02:25:51Z 1 1 0 675 CDBP00674 Adenylate cyclase type 3 O60266 ADCY3_HUMAN true false Enzyme Homo_sapiens ADCY3 1144 128958.905 6.578 Involved in phosphorus-oxygen lyase activity Mediates odorant detection (possibly) via modulation of intracellular cAMP concentration. NM_004036.3 148536830 ADCY3 2 2p23.3 ADCY3 HGNC:234 true hsa:109 NP_004027.2:NM_004036.3 Expressed in brain, heart, kidney, liver, lung, pancreas, placenta, and skeletal muscle. magnesium ions 2020-06-12T23:06:51Z 2020-07-28T02:25:51Z 1 1 0 676 CDBP00675 Adenylate cyclase type 1 Q08828 ADCY1_HUMAN true false Enzyme Homo_sapiens ADCY1 1119 123438.85 8.425 Involved in phosphorus-oxygen lyase activity This is a calmodulin-sensitive adenylyl cyclase. May be involved in regulatory processes in the central nervous system. It may play a role in memory acquisition and learning. NM_021116.2 31083193 ADCY1 7 7p13-p12 ADCY1 HGNC:232 true hsa:107 NP_066939.1:NM_021116.2 Brain, retina and adrenal medulla. magnesium ions 2020-06-12T23:06:51Z 2020-07-28T02:25:51Z 1 1 0 677 CDBP00676 Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial P55809 SCOT1_HUMAN true false Enzyme Homo_sapiens OXCT1 520 56157.175 7.461 Involved in CoA-transferase activity Key enzyme for ketone body catabolism. Transfers the CoA moiety from succinate to acetoacetate. Formation of the enzyme-CoA intermediate proceeds via an unstable anhydride species formed between the carboxylate groups of the enzyme and substrate. 3DLX U62961 OXCT1 5 5p13.1 OXCT1 HGNC:8527 true hsa:5019 HS01447-MONOMER NP_000427.1:NM_000436.3 Abundant in heart, followed in order by kidney, brain, and muscle, whereas in liver it is undetectable; also detectable in leukocytes and fibroblasts. Homodimer 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 678 CDBP00677 Fumarylacetoacetase P16930 FAAA_HUMAN true false Enzyme Homo_sapiens FAH 419 46373.97 6.943 Involved in fumarylacetoacetase activity M55150 182393 FAH 15 15q25.1 FAH HGNC:3579 true hsa:2184 HS02536-MONOMER NP_000128.1:NM_000137.2 Mainly expressed in liver and kidney. Lower levels are also detected in many other tissues. Calcium;Magnesium Homodimer 2020-06-12T23:06:51Z 2020-07-28T02:25:51Z 0 1 0 679 CDBP00678 Succinyl-CoA:3-ketoacid coenzyme A transferase 2, mitochondrial Q9BYC2 SCOT2_HUMAN true false Enzyme Homo_sapiens OXCT2 517 56139.41 7.134 Involved in CoA-transferase activity Key enzyme for ketone body catabolism. Transfers the CoA moiety from succinate to acetoacetate. Formation of the enzyme-CoA intermediate proceeds via an unstable anhydride species formed between the carboxylate groups of the enzyme and substrate (By similarity). AB050193 OXCT2 1 1p34 OXCT2 HGNC:18606 true hsa:64064 NP_071403.1:NM_022120.1 Testis specific. Homodimer 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 680 CDBP00679 Carbohydrate sulfotransferase 7 Q9NS84 CHST7_HUMAN true false Enzyme Homo_sapiens CHST7 486 54265.635 9.644 Involved in sulfotransferase activity Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues. Preferentially acts on mannose-linked GlcNAc. Also able to catalyze the transfer of sulfate to position 6 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Also acts on core 2 mucin-type oligosaccharide and N-acetyllactosamine oligomer with a lower efficiency. Has weak or no activity toward keratan sulfate and oligosaccharides containing the Galbeta1-4GlcNAc. Catalyzes 6-O-sulfation of beta-benzyl GlcNAc but not alpha- or beta-benzyl GalNAc. AB037187 9309344 CHST7 X Xp11.23 CHST7 HGNC:13817 true hsa:56548 HS07394-MONOMER NP_063939.2:NM_019886.2 Widely expressed. Highly expressed in heart, spleen, liver and ovary. Expressed at lower level in brain, placenta, thyroid, spinal cord and peripheral blood leukocytes. Not expressed in adult skin. 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 681 CDBP00680 Corticosteroid 11-beta-dehydrogenase isozyme 2 P80365 DHI2_HUMAN true false Enzyme Homo_sapiens HSD11B2 405 44126.06 9.272 Involved in oxidoreductase activity Catalyzes the conversion of cortisol to the inactive metabolite cortisone. Modulates intracellular glucocorticoid levels, thus protecting the nonselective mineralocorticoid receptor from occupation by glucocorticoids. NM_000196.3 119392083 HSD11B2 16 16q22 HSD11B2 HGNC:5209 true hsa:3291 NP_000187.3:NM_000196.3 Found in placenta, kidney, pancreas, prostate, ovary, small intestine and colon. Interacts with ligand-free cytoplasmic NR3C2 2020-06-12T23:06:51Z 2020-07-28T02:25:51Z 0 0 0 682 CDBP00681 Corticosteroid 11-beta-dehydrogenase isozyme 1 P28845 DHI1_HUMAN true false Enzyme Homo_sapiens HSD11B1 292 32400.665 8.553 Involved in oxidoreductase activity Catalyzes reversibly the conversion of cortisol to the inactive metabolite cortisone. Catalyzes reversibly the conversion of 7-ketocholesterol to 7-beta-hydroxycholesterol. In intact cells, the reaction runs only in one direction, from 7-ketocholesterol to 7-beta-hydroxycholesterol (By similarity). 1XU7;1XU9;2BEL;2ILT;2IRW;2RBE;3BYZ;3BZU;3CH6;3CZR;3D3E;3D4N;3D5Q;3EY4;3FCO;3FRJ;3H6K;3HFG;3OQ1;3PDJ;3QQP;3TFQ;4BB5;4BB6;4HFR AK313973 HSD11B1 1 1q32-q41 HSD11B1 HGNC:5208 true hsa:3290 NP_001193670.1:NM_001206741.1;NP_005516.1:NM_005525.3;NP_861420.1:NM_181755.2 Widely expressed. Highest expression in liver. Homodimer 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 683 CDBP00682 Creatine kinase S-type, mitochondrial P17540 KCRS_HUMAN true false Enzyme Homo_sapiens CKMT2 419 47504.08 8.195 Involved in kinase activity Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa. 2GL6 BC029140 20810521 CKMT2 5 5q13.3 CKMT2 HGNC:1996 true hsa:1160 HS05555-MONOMER NP_001093205.1:NM_001099735.1;NP_001093206.1:NM_001099736.1;NP_001816.2:NM_001825.2 Sarcomere-specific. Found only in heart and skeletal muscles. Exists as an octamer composed of four CKMT2 homodimers 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 684 CDBP00683 Creatine kinase B-type P12277 KCRB_HUMAN true false Enzyme Homo_sapiens CKB 381 42643.95 5.592 Involved in kinase activity Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa. 3B6R;3DRB;3DRE M16451 180572 CKB 14 14q32 CKB HGNC:1991 true hsa:1152 HS09344-MONOMER NP_001814.2:NM_001823.4 Dimer of identical or non-identical chains. With MM being the major form in skeletal muscle and myocardium, MB existing in myocardium, and BB existing in many tissues, especially brain 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 685 CDBP00684 Creatine kinase U-type, mitochondrial P12532 KCRU_HUMAN true false Enzyme Homo_sapiens CKMT1A 417 47036.3 8.341 Involved in kinase activity Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa. 1QK1 BT006628 CKMT1A 15 15q15 CKMT1A HGNC:1995 true hsa:548596 HS09820-MONOMER NP_001015001.1:NM_001015001.1;NP_066270.1:NM_020990.3 Exists as an octamer composed of four MTCK homodimers 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 686 CDBP00685 Creatine kinase M-type P06732 KCRM_HUMAN true false Enzyme Homo_sapiens CKM 381 43100.91 7.258 Involved in kinase activity Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa. 1I0E M14780 180576 CKM 19 19q13.32 CKM HGNC:1994 true hsa:1158 HS02640-MONOMER NP_001815.2:NM_001824.4 Dimer of identical or non-identical chains. With MM being the major form in skeletal muscle and myocardium, MB existing in myocardium, and BB existing in many tissues, especially brain 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 687 CDBP00686 Alpha-galactosidase A P06280 AGAL_HUMAN true false Enzyme Homo_sapiens GLA 429 Involved in catalytic activity 1R46;1R47;3GXN;3GXP;3GXT;3HG2;3HG3;3HG4;3HG5;3LX9;3LXA;3LXB;3LXC;3S5Y;3S5Z;3TV8 X05790 757912 GLA GLA HGNC:4296 true hsa:2717 HS02389-MONOMER NP_000160.1:NM_000169.2 Homodimer 2020-06-12T23:06:51Z 2020-07-28T02:25:52Z 1 0 0 688 CDBP00687 Cholesterol side-chain cleavage enzyme, mitochondrial P05108 CP11A_HUMAN false false Metal Binding Homo_sapiens CYP11A1 521 60101.87 8.834 Involved in monooxygenase activity Catalyzes the side-chain cleavage reaction of cholesterol to pregnenolone. 3N9Y;3N9Z;3NA0;3NA1 AK292300 158258032 CYP11A1 15 15q23-q24 CYP11A1 HGNC:2590 true hsa:1583 HS06719-MONOMER NP_000772.2:NM_000781.2;NP_001093243.1:NM_001099773.1 Heme group 2020-06-12T23:06:51Z 2020-07-28T02:31:56Z 0 1 0 689 CDBP00688 Aconitate hydratase, mitochondrial Q99798 ACON_HUMAN true false Enzyme Homo_sapiens ACO2 780 85424.745 7.599 Involved in metabolic process Catalyzes the isomerization of citrate to isocitrate via cis-aconitate (By similarity). AL008582 55957148 ACO2 22 22q13.2 ACO2 HGNC:118 true hsa:50 HS02077-MONOMER NP_001089.1:NM_001098.2 4Fe-4S cluster . Binding of a 3Fe-4S cluster leads to an inactive enzyme Monomer 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 690 CDBP00689 Cytoplasmic aconitate hydratase P21399 ACOC_HUMAN true false Enzyme Homo_sapiens ACO1 889 98398.14 6.685 Involved in metabolic process Iron sensor. Binds a 4Fe-4S cluster and functions as aconitase when cellular iron levels are high. Functions as mRNA binding protein that regulates uptake, sequestration and utilization of iron when cellular iron levels are low. Binds to iron-responsive elements (IRES) in target mRNA species when iron levels are low. Binding of a 4Fe-4S cluster precludes RNA binding. Catalyzes the isomerization of citrate to isocitrate via cis-aconitate (By similarity). 2B3X;2B3Y Z11559 33963 ACO1 9 9p21.1 ACO1 HGNC:117 true hsa:48 HS04597-MONOMER NP_002188.1:NM_002197.2 4Fe-4S cluster Interacts (when associated with the 4Fe-4S) with FBXL5. Interacts with frataxin(81-210) 2020-06-12T23:06:51Z 2020-07-28T02:25:52Z 0 1 0 691 CDBP00690 Dihydropyrimidine dehydrogenase [NADP(+)] Q12882 DPYD_HUMAN true false Enzyme Homo_sapiens DPYD 1025 111400.32 7.05 Involved in electron carrier activity Involved in pyrimidine base degradation. Catalyzes the reduction of uracil and thymine. Also involved the degradation of the chemotherapeutic drug 5-fluorouracil. AB003063 6729338 DPYD 1 1p22 DPYD HGNC:3012 true hsa:1806 NP_000101.2:NM_000110.3;NP_001153773.1:NM_001160301.1 Found in most tissues with greatest activity found in liver and peripheral blood mononuclear cells. FAD;FMN;4Fe-4S clusters. Contains approximately 16 iron atoms Homodimer 2020-06-12T23:06:51Z 2020-07-28T02:25:53Z 0 1 0 692 CDBP00691 Gamma-glutamyltranspeptidase 1 P19440 GGT1_HUMAN true false Enzyme Homo_sapiens GGT1 569 61409.67 7.123 Involved in gamma-glutamyltransferase activity Initiates extracellular glutathione (GSH) breakdown, provides cells with a local cysteine supply and contributes to maintain intracellular GSH level. It is part of the cell antioxidant defense mechanism. Catalyzes the transfer of the glutamyl moiety of glutathione to amino acids and dipeptide acceptors. Alternatively, glutathione can be hydrolyzed to give Cys-Gly and gamma glutamate. Isoform 3 seems to be inactive. J04131 183138 GGT1 22 22q11.23 GGT1 HGNC:4250 true hsa:2678 HS01957-MONOMER NP_001027536.1:NM_001032364.2;NP_001027537.1:NM_001032365.2;NP_005256.2:NM_005265.2;NP_038347.2:NM_013430.2 Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. Isoform 3 is lung-specific. There are several other tissue-specific forms that arise from alternative promoter usage but that produce the same protein. Heterodimer composed of the light and heavy chains. The active site is located in the light chain 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 693 CDBP00692 Gamma-glutamyltransferase 7 Q9UJ14 GGT7_HUMAN true false Enzyme Homo_sapiens GGT7 662 70466.015 5.1 Involved in gamma-glutamyltransferase activity Cleaves glutathione conjugates (By similarity). NM_178026.2 109148539 GGT7 20 20q11.22 GGT7 HGNC:4259 true hsa:2686 NP_821158.2:NM_178026.2 Widely expressed, but at low level, except in the airway epithelial cells. Detected in brain, heart, kidney, liver, lung, spleen, testis and trachea. Heterodimer composed of the light and heavy chains. The active site is located in the light chain . Isoform 3 interacts with FAM57A 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 694 CDBP00693 Choline-phosphate cytidylyltransferase B Q9Y5K3 PCY1B_HUMAN true false Enzyme Homo_sapiens PCYT1B 369 40228.99 7.275 Involved in catalytic activity Controls phosphatidylcholine synthesis. NM_004845.4 21361202 PCYT1B X Xp22.11 PCYT1B HGNC:8755 true hsa:9468 NP_001156736.1:NM_001163264.1;NP_001156737.1:NM_001163265.1;NP_004836.2:NM_004845.4 Highly expressed in testis, placenta, brain, ovary and fetus. 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 695 CDBP00694 6-phosphofructokinase type C Q01813 K6PP_HUMAN true false Enzyme Homo_sapiens PFKP 784 85595.405 7.554 Involved in 6-phosphofructokinase activity Catalyzes the third step of glycolysis, the phosphorylation of fructose-6-phosphate (F6P) by ATP to generate fructose-1,6-bisphosphate (FBP) and ADP. D25328 PFKP 10 10p15.3-p15.2 PFKP HGNC:8878 true hsa:5214 NP_002618.1:NM_002627.4 Magnesium Tetramer. Muscle is M4, liver is L4, and red cell is M3L, M2L2, or ML3. A subunit composition with a higher proportion of platelet type subunits is found in platelets, brain and fibroblasts 2020-06-12T23:06:51Z 2020-07-28T02:25:53Z 0 1 0 696 CDBP00695 DNA-directed RNA polymerase III subunit RPC4 P05423 RPC4_HUMAN true false Enzyme Homo_sapiens POLR3D 398 Involved in DNA binding DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway (By similarity). NM_001722.2 55769552 POLR3D POLR3D HGNC:1080 true hsa:661 NP_001713.2:NM_001722.2 Component of the RNA polymerase III (Pol III) complex consisting of 17 subunits . Interacts with POLR3E/RPC5 2020-06-12T23:06:51Z 2020-07-28T02:25:53Z 0 0 1 697 CDBP00696 DNA-directed RNA polymerase II subunit RPB2 P30876 RPB2_HUMAN true false Enzyme Homo_sapiens POLR2B 1174 133895.435 6.88 Involved in DNA-directed RNA polymerase activity DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Second largest component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Proposed to contribute to the polymerase catalytic activity and forms the polymerase active center together with the largest subunit. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB2 is part of the core element with the central large cleft, the clamp element that moves to open and close the cleft and the jaws that are thought to grab the incoming DNA template (By similarity). X63563 36122 POLR2B 4 4q12 POLR2B HGNC:9188 true hsa:5431 NP_000929.1:NM_000938.1 Component of the RNA polymerase II (Pol II) complex consisting of 12 subunits. Interacts with WDR82. Interacts with MEN1 2020-06-12T23:06:51Z 2020-07-28T02:25:53Z 0 1 1 698 CDBP00697 Ethanolamine-phosphate cytidylyltransferase Q99447 PCY2_HUMAN true false Enzyme Homo_sapiens PCYT2 389 35199.52 6.465 Involved in catalytic activity Plays an important role in the biosynthesis of the phospholipid phosphatidylethanolamine. Catalyzes the formation of CDP-ethanolamine. 3ELB BC000351 12653167 PCYT2 17 17q25.3 PCYT2 HGNC:8756 true hsa:5833 NP_001243364.1:NM_001256435.1;NP_002852.1:NM_002861.3 Strongest expression in liver, heart, and skeletal muscle. 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 699 CDBP00698 DNA-directed RNA polymerase II subunit RPB1 P24928 RPB1_HUMAN true false Enzyme Homo_sapiens POLR2A 1970 217204.265 7.365 Involved in DNA binding DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Largest and catalytic component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Forms the polymerase active center together with the second largest subunit. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB1 is part of the core element with the central large cleft, the clamp element that moves to open and close the cleft and the jaws that are thought to grab the incoming DNA template. At the start of transcription, a single stranded DNA template strand of the promoter is positioned within the central active site cleft of Pol II. A bridging helix emanates from RPB1 and crosses the cleft near the catalytic site and is thought to promote translocation of Pol II by acting as a ratchet that moves the RNA-DNA hybrid through the active site by switching from straight to bent conformations at each step of nucleotide addition. During transcription elongation, Pol II moves on the template as the transcript elongates. Elongation is influenced by the phosphorylation status of the C-terminal domain (CTD) of Pol II largest subunit (RPB1), which serves as a platform for assembly of factors that regulate transcription initiation, elongation, termination and mRNA processing. Acts as a RNA-dependent RNA polymerase when associated with small delta antigen of Hepatitis delta virus, acting both as a replicate and transcriptase for the viral RNA circular genome. 2GHQ;2GHT;2LTO X63564 36124 POLR2A 17 17p13.1 POLR2A HGNC:9187 true hsa:5430 NP_000928.1:NM_000937.4 Component of the RNA polymerase II (Pol II) complex consisting of 12 subunits. The phosphorylated C-terminal domain interacts with FNBP3 and SYNCRIP. Interacts with SAFB/SAFB1. Interacts with CCNL1 and MYO1C . Interacts with CCNL2 and SFRS19. Component of a complex which is at least composed of HTATSF1/Tat-SF1, the P-TEFb complex components CDK9 and CCNT1, RNA polymerase II, SUPT5H, and NCL/nucleolin. Interacts with PAF1. Interacts (via C-terminus) with FTSJD2, CTDSP1 and SCAF8. Interacts via the phosphorylated C-terminal domain with WDR82 and with SETD1A and SETD1B only in the presence of WDR82. Interacts with ATF7IP. When phosphorylated at 'Ser-5', interacts with MEN1; the unphosphorylated form, or phosphorylated at 'Ser-2' does not interact. Interacts with DDX5 2020-06-12T23:06:51Z 2020-07-28T02:25:53Z 0 1 1 700 CDBP00699 DNA-directed RNA polymerase, mitochondrial O00411 RPOM_HUMAN true false Enzyme Homo_sapiens POLRMT 1230 138619.335 8.983 Involved in DNA binding DNA-dependent RNA polymerase catalyzes the transcription of mitochondrial DNA into RNA using the four ribonucleoside triphosphates as substrates. 3SPA AC004449 2979529 POLRMT 19 19p13.3 POLRMT HGNC:9200 true hsa:5442 NP_005026.3:NM_005035.3 Interacts with TFB1M and TFB2M, leading to the stimulation of transcription. Interacts with TEFM 2020-06-12T23:06:51Z 2020-07-28T02:25:53Z 0 0 1 701 CDBP00700 DNA-directed RNA polymerase I subunit RPA2 Q9H9Y6 RPA2_HUMAN true false Enzyme Homo_sapiens POLR1B 1135 121987.24 7.629 Involved in DNA-directed RNA polymerase activity DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Second largest core component of RNA polymerase I which synthesizes ribosomal RNA precursors. Proposed to contribute to the polymerase catalytic activity and forms the polymerase active center together with the largest subunit. Pol I is composed of mobile elements and RPA2 is part of the core element with the central large cleft and probably a clamp element that moves to open and close the cleft (By similarity). AC012442 62420281 POLR1B 2 2q13 POLR1B HGNC:20454 true hsa:84172 NP_001131076.1:NM_001137604.1;NP_061887.2:NM_019014.4 Component of the RNA polymerase I (Pol I) complex consisting of at least 13 subunits 2020-06-12T23:06:51Z 2020-07-28T02:25:53Z 0 1 1 702 CDBP00701 DNA-directed RNA polymerase III subunit RPC7 O15318 RPC7_HUMAN true false Enzyme Homo_sapiens POLR3G 223 Involved in DNA-directed RNA polymerase activity DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. May direct with other members of the RPC3/POLR3C-RPC6/POLR3F-RPC7/POLR3G subcomplex RNA Pol III binding to the TFIIIB-DNA complex via the interactions between TFIIIB and POLR3F. May be involved either in the recruitment and stabilization of the subcomplex within RNA polymerase III, or in stimulating catalytic functions of other subunits during initiation. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway. NM_006467.2 115529475 POLR3G POLR3G HGNC:30075 true hsa:10622 NP_006458.2:NM_006467.2 Component of the RNA polymerase III (Pol III) complex consisting of 17 subunits . RPC3/POLR3C, RPC6/POLR3F and RPC7/POLR3G form a Pol III subcomplex 2020-06-12T23:06:51Z 2020-07-28T02:25:53Z 0 0 1 703 CDBP00702 Phosphatidate cytidylyltransferase 2 O95674 CDS2_HUMAN true false Enzyme Homo_sapiens CDS2 445 51417.5 7.09 Involved in transferase activity, transferring phosphorus-containing groups Provides CDP-diacylglycerol an important precursor for the synthesis of phosphatidylinositol, phosphatidylglycerol, and cardiolipin. Y16521 4186023 CDS2 20 20p13 CDS2 HGNC:1801 true hsa:8760 NP_003809.1:NM_003818.3 Widely expressed. Expressed in heart, brain and retina, and to a lesser extent in placenta, lung, liver, skeletal muscle, kidney and pancreas. 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 704 CDBP00703 DNA-directed RNA polymerase III subunit RPC2 Q9NW08 RPC2_HUMAN true false Enzyme Homo_sapiens POLR3B 1133 121119.23 8.554 Involved in DNA-directed RNA polymerase activity DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Second largest core component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Proposed to contribute to the polymerase catalytic activity and forms the polymerase active center together with the largest subunit. Pol III is composed of mobile elements and RPC2 is part of the core element with the central large cleft and probably a clamp element that moves to open and close the cleft (By similarity). Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway. NM_018082.5 238908503 POLR3B 12 12q23.3 POLR3B HGNC:30348 true hsa:55703 NP_001154180.1:NM_001160708.1;NP_060552.4:NM_018082.5 Component of the RNA polymerase III (Pol III) complex consisting of 17 subunits 2020-06-12T23:06:51Z 2020-07-28T02:25:54Z 0 1 1 705 CDBP00704 Choline-phosphate cytidylyltransferase A P49585 PCY1A_HUMAN true false Enzyme Homo_sapiens PCYT1A 367 41730.67 7.261 Involved in catalytic activity Controls phosphatidylcholine synthesis. BC046355 28204946 PCYT1A 3 3q29 PCYT1A HGNC:8754 true hsa:5130 NP_005008.2:NM_005017.2 Homodimer 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 706 CDBP00705 DNA-directed RNA polymerase I subunit RPA49 Q9GZS1 RPA49_HUMAN true false Enzyme Homo_sapiens POLR1E 481 47259.7 8.936 Involved in DNA binding DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors. Appears to be involved in the formation of the initiation complex at the promoter by mediating the interaction between Pol I and UBTF/UBF (By similarity). AK091294 21749630 POLR1E 9 9p13.2 POLR1E HGNC:17631 true hsa:64425 NP_071935.1:NM_022490.1 Component of the RNA polymerase I (Pol I) complex consisting of at least 13 subunits . Interacts with PAF49/CD3EAP. Also binds UBTF/UBF (By similarity) 2020-06-12T23:06:51Z 2020-07-28T02:25:54Z 0 0 1 707 CDBP00706 6-phosphofructokinase, liver type P17858 K6PL_HUMAN true false Enzyme Homo_sapiens PFKL 780 85017.825 7.5 Involved in 6-phosphofructokinase activity Catalyzes the third step of glycolysis, the phosphorylation of fructose-6-phosphate (F6P) by ATP to generate fructose-1,6-bisphosphate (FBP) and ADP. X15573 35431 PFKL 21 21q22.3 PFKL HGNC:8876 true hsa:5211 NP_002617.3:NM_002626.4 Magnesium Tetramer. Muscle is M4, liver is L4, and red cell is M3L, M2L2, or ML3 2020-06-12T23:06:51Z 2020-07-28T02:25:54Z 0 1 0 708 CDBP00707 DNA-directed RNA polymerase III subunit RPC8 Q9Y535 RPC8_HUMAN true false Enzyme Homo_sapiens POLR3H 204 Involved in DNA-directed RNA polymerase activity DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway (By similarity). NM_001018050.2 65301161 POLR3H POLR3H HGNC:30349 true hsa:171568 NP_001018060.1:NM_001018050.2;NP_001018062.1:NM_001018052.2;NP_612211.1:NM_138338.3 Component of the RNA polymerase III (Pol III) complex consisting of 17 subunits . Interacts with CRCP/RPC9. POLR3H/RPC8 and CRCP/RPC9 probably form a Pol III subcomplex 2020-06-12T23:06:51Z 2020-07-28T02:25:54Z 0 0 1 709 CDBP00708 DNA-directed RNA polymerase III subunit RPC10 Q9Y2Y1 RPC10_HUMAN true false Enzyme Homo_sapiens POLR3K 108 Involved in DNA binding DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway (By similarity). AE006462 14336676 POLR3K POLR3K HGNC:14121 true hsa:51728 NP_057394.2:NM_016310.3 Component of the RNA polymerase III (Pol III) complex consisting of 17 subunits 2020-06-12T23:06:51Z 2020-07-28T02:25:54Z 0 1 1 710 CDBP00709 6-phosphofructokinase, muscle type P08237 K6PF_HUMAN true false Enzyme Homo_sapiens PFKM 780 85181.925 7.99 Involved in 6-phosphofructokinase activity Catalyzes the third step of glycolysis, the phosphorylation of fructose-6-phosphate (F6P) by ATP to generate fructose-1,6-bisphosphate (FBP) and ADP. M26066 189855 PFKM 12 12q13.3 PFKM HGNC:8877 true hsa:5213 NP_000280.1:NM_000289.5;NP_001160158.1:NM_001166686.1;NP_001160159.1:NM_001166687.1;NP_001160160.1:NM_001166688.1 Magnesium Tetramer. Muscle is M4, liver is L4, and red cell is M3L, M2L2, or ML3 2020-06-12T23:06:51Z 2020-07-28T02:25:54Z 0 1 0 711 CDBP00710 Pyruvate kinase isozymes M1/M2 P14618 KPYM_HUMAN true false Enzyme Homo_sapiens PKM 531 65930.14 7.87 Involved in magnesium ion binding Glycolytic enzyme that catalyzes the transfer of a phosphoryl group from phosphoenolpyruvate (PEP) to ADP, generating ATP. Stimulates POU5F1-mediated transcriptional activation. Plays a general role in caspase independent cell death of tumor cells. The ratio betwween the highly active tetrameric form and nearly inactive dimeric form determines whether glucose carbons are channeled to biosynthetic processes or used for glycolytic ATP production. The transition between the 2 forms contributes to the control of glycolysis and is important for tumor cell proliferation and survival. 1T5A;1ZJH;3BJF;3BJT;3G2G;3GQY;3GR4;3H6O;3ME3;3SRD;3SRF;3SRH;3U2Z;4B2D;4G1N NM_002654.3 33286418 PKM2 15 15q22 PKM2 HGNC:9021 true hsa:5315 NP_001193725.1:NM_001206796.1;NP_001193726.1:NM_001206797.1;NP_001193727.1:NM_001206798.1;NP_001193728.1:NM_001206799.1;NP_002645.3:NM_002654.4;NP_872270.1:NM_182470.2;NP_872271.1:NM_182471.2 Specifically expressed in proliferating cells, such as embryonic stem cells, embryonic carcinoma cells, as well as cancer cells. Magnesium;Potassium Monomer and homotetramer. Exists as a monomer in the absence of FBP, and reversibly associates to form a homotetramer in the presence of FBP. The monomeric form binds T3. Tetramer formation induces pyruvate kinase activity. The tetrameric form has high affinity for the substrate and is associated within the glycolytic enzyme complex. Exists in a nearly inactive dimeric form in tumor cells and the dimeric form has less affinity for the substrate. Binding to certain oncoproteins such as HPV-16 E7 oncoprotein can trigger dimerization. FBP stimulates the formation of tetramers from dimers. Interacts with HERC1, POU5F1 and PML. Interacts (isoform M2) with EGLN3; the interaction hydroxylates PKM under hypoxia and enhances binding to HIF1A. Interacts (isoform M2) with HIF1A; the interaction is enhanced by binding of EGLN3, promoting enhanced transcription activity under hypoxia 2020-06-12T23:06:51Z 2020-07-28T02:25:54Z 0 1 0 712 CDBP00711 Phosphatidate cytidylyltransferase 1 Q92903 CDS1_HUMAN true false Enzyme Homo_sapiens CDS1 461 53303.57 8.093 Involved in transferase activity, transferring phosphorus-containing groups Provides CDP-diacylglycerol an important precursor for the synthesis of phosphatidylinositol (PtdIns), phosphatidylglycerol, and cardiolipin. Overexpression may amplify cellular signaling responses from cytokines. May also play an important role in the signal transduction mechanism of retina and neural cells. AK314245 189054385 CDS1 4 4q21.23 CDS1 HGNC:1800 true hsa:1040 NP_001254.2:NM_001263.3 Expressed in adult tissues such as placenta, brain, small intestine, ovary, testis and prostate. Highly expressed in fetal kidney, lung and brain. Lower level in fetal liver. Magnesium 2020-06-12T23:06:51Z 2020-07-28T02:25:54Z 0 0 0 713 CDBP00712 Pyruvate kinase isozymes R/L P30613 KPYR_HUMAN true false Enzyme Homo_sapiens PKLR 574 61829.575 7.745 Involved in magnesium ion binding Plays a key role in glycolysis (By similarity). 2VGB;2VGF;2VGG;2VGI AB015983 PKLR 1 1q21 PKLR HGNC:9020 true hsa:5313 NP_000289.1:NM_000298.5;NP_870986.1:NM_181871.3 Magnesium;Potassium Homotetramer 2020-06-12T23:06:51Z 2020-07-28T02:25:54Z 0 1 0 714 CDBP00713 Deoxyguanosine kinase, mitochondrial Q16854 DGUOK_HUMAN true false Enzyme Homo_sapiens DGUOK 277 32055.53 8.661 Involved in ATP binding Required for the phosphorylation of several deoxyribonucleosides and certain nucleoside analogs widely employed as antiviral and chemotherapeutic agents. 2OCP BC015757 16041753 DGUOK 2 2p13 DGUOK HGNC:2858 true hsa:1716 NP_550438.1:NM_080916.2;NP_550440.1:NM_080918.2 Ubiquitous. Highest expression in muscle, brain, liver and lymphoid tissues. Homodimer 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 715 CDBP00714 N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 O94760 DDAH1_HUMAN true false Enzyme Homo_sapiens DDAH1 285 20189.135 5.84 Involved in hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines Hydrolyzes N(G),N(G)-dimethyl-L-arginine (ADMA) and N(G)-monomethyl-L-arginine (MMA) which act as inhibitors of NOS. Has therefore a role in the regulation of nitric oxide generation. 2JAI;2JAJ;3I2E;3I4A;3P8E;3P8P AB001915 DDAH1 1 1p22 DDAH1 HGNC:2715 true hsa:23576 NP_001127917.1:NM_001134445.1;NP_036269.1:NM_012137.3 Detected in brain, liver, kidney and pancreas, and at low levels in skeletal muscle. Monomer 2020-06-12T23:06:51Z 2020-07-28T02:25:54Z 0 1 0 716 CDBP00715 N(G),N(G)-dimethylarginine dimethylaminohydrolase 2 O95865 DDAH2_HUMAN true false Enzyme Homo_sapiens DDAH2 285 29643.54 6.016 Involved in hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines Hydrolyzes N(G),N(G)-dimethyl-L-arginine (ADMA) and N(G)-monomethyl-L-arginine (MMA) which act as inhibitors of NOS. Has therefore a role in the regulation of nitric oxide generation. AF070667 DDAH2 6 6p21.3 DDAH2 HGNC:2716 true hsa:23564 NP_039268.1:NM_013974.1 Detected in heart, placenta, lung, liver, skeletal muscle, kidney and pancreas, and at very low levels in brain. 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 717 CDBP00716 Phosphatidylcholine:ceramide cholinephosphotransferase 2 Q8NHU3 SMS2_HUMAN true false Enzyme Homo_sapiens SGMS2 365 42279.8 9.0 Involved in catalytic activity Bidirectional lipid cholinephosphotransferase capable of converting phosphatidylcholine (PC) and ceramide to sphingomyelin (SM) and diacylglycerol (DAG) and vice versa. Direction is dependent on the relative concentrations of DAG and ceramide as phosphocholine acceptors. Directly and specifically recognizes the choline head group on the substrate. Also requires two fatty chains on the choline-P donor molecule in order to be recognized efficiently as a substrate. Does not function strictly as a SM synthase. Required for cell growth ["None"] ["80-100", "128-148", "159-179", "206-226", "248-268", "275-295"] AF452717 SGMS2 Chromosome:4 4q25 SGMS2 HGNC:28395 true 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 718 CDBP00717 CDP-diacylglycerol--inositol 3-phosphatidyltransferase O14735 CDIPT_HUMAN true false Enzyme Homo_sapiens CDIPT 213 23538.47 8.037 Involved in phosphotransferase activity, for other substituted phosphate groups Catalyzes the biosynthesis of phosphatidylinositol (PtdIns) as well as PtdIns:inositol exchange reaction. May thus act to reduce an excessive cellular PtdIns content. The exchange activity is due to the reverse reaction of PtdIns synthase and is dependent on CMP, which is tightly bound to the enzyme. AF014807 CDIPT 16 16p11.2 CDIPT HGNC:1769 true hsa:10423 HS02513-MONOMER NP_006310.1:NM_006319.3 Widely expressed. Higher expression in adult liver and skeletal muscle, slightly lower levels seen in pancreas, kidney, lung, placenta, brain, heart, leukocyte, colon, small intestine, ovary, testis, prostate, thymus and spleen. In fetus, expressed in kidney, liver, lung and brain. Magnesium;Manganese 2020-06-12T23:06:51Z 2020-07-28T02:25:55Z 0 0 0 719 CDBP00718 Lactosylceramide alpha-2,3-sialyltransferase Q9UNP4 SIAT9_HUMAN true false Enzyme Homo_sapiens ST3GAL5 418 45584.69 8.704 Involved in sialyltransferase activity Catalyzes the formation of ganglioside GM3 (alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1, 4-beta-D-glucosylceramide). NM_003896.3 109633044 ST3GAL5 2 2p11.2 ST3GAL5 HGNC:10872 true hsa:8869 NP_001035902.1:NM_001042437.1;NP_003887.3:NM_003896.3 Ubiquitous. High expression in brain, skeletal muscle, placenta, and testis. 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 720 CDBP00719 Type 2 lactosamine alpha-2,3-sialyltransferase Q9Y274 SIA10_HUMAN true false Enzyme Homo_sapiens ST3GAL6 331 38213.3 9.3 Involved in sialyltransferase activity Involved in the synthesis of sialyl-paragloboside, a precursor of sialyl-Lewis X determinant. Has a alpha-2,3- sialyltransferase activity toward Gal-beta1,4-GlcNAc structure on glycoproteins and glycolipids. Has a restricted substrate specificity, it utilizes Gal-beta1,4-GlcNAc on glycoproteins, and neolactotetraosylceramide and neolactohexaosylceramide, but not lactotetraosylceramide, lactosylceramide or asialo-GM1 ["None"] ["5-25"] AB022918 ST3GAL6 Chromosome:3 3q12.1 ST3GAL6 HGNC:18080 true 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 721 CDBP00720 Phosphatidylcholine:ceramide cholinephosphotransferase 1 Q86VZ5 SMS1_HUMAN true false Enzyme Homo_sapiens SGMS1 419 49207.3 8.51 Involved in catalytic activity Bidirectional lipid cholinephosphotransferase capable of converting phosphatidylcholine (PC) and ceramide to sphingomyelin (SM) and diacylglycerol (DAG) and vice versa. Direction is dependent on the relative concentrations of DAG and ceramide as phosphocholine acceptors. Directly and specifically recognizes the choline head group on the substrate. Also requires two fatty chains on the choline-P donor molecule in order to be recognized efficiently as a substrate. Does not function strictly as a SM synthase. Suppresses BAX-mediated apoptosis and also prevents cell death in response to stimuli such as hydrogen peroxide, osmotic stress, elevated temperature and exogenously supplied sphingolipids. May protect against cell death by reversing the stress-inducible increase in levels of proapoptotic ceramide. Required for cell growth ["None"] ["142-162", "190-210", "221-241", "282-302", "310-330"] 29789379 SGMS1 Chromosome:1 10q11.2 SGMS1 HGNC:29799 true 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 722 CDBP00721 Sphingomyelin phosphodiesterase P17405 ASM_HUMAN true false Enzyme Homo_sapiens SMPD1 629 69935.53 7.29 Involved in hydrolase activity Converts sphingomyelin to ceramide. Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol. Isoform 2 and isoform 3 have lost catalytic activity. M59916 179095 SMPD1 11 11p15.4-p15.1 SMPD1 HGNC:11120 true hsa:6609 NP_000534.3:NM_000543.4;NP_001007594.2:NM_001007593.2 Monomer 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 723 CDBP00722 Choline/ethanolamine kinase Q9Y259 CHKB_HUMAN true false Enzyme Homo_sapiens CHKB 395 45270.99 5.491 Cell wall/membrane/envelope biogenesis Has a key role in phospholipid biosynthesis. Catalyzes the first step in phosphatidylethanolamine biosynthesis. Phosphorylates ethanolamine, and can also act on choline (in vitro). Has higher activity with ethanolamine. May not significantly contribute to in vivo phosphatidylcholine biosynthesis. 2IG7;3FEG;3LQ3 AB029886 189067262 CHKB 22 22q13.33 CHKB HGNC:1938 true hsa:1120 NP_005189.2:NM_005198.4 Homodimer, and heterodimer with CHKA 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 724 CDBP00723 Choline kinase alpha P35790 CHKA_HUMAN true false Enzyme Homo_sapiens CHKA 457 52248.53 6.557 Cell wall/membrane/envelope biogenesis Has a key role in phospholipid biosynthesis and may contribute to tumor cell growth. Catalyzes the first step in phosphatidylcholine biosynthesis. Contributes to phosphatidylethanolamine biosynthesis. Phosphorylates choline and ethanolamine. Has higher activity with choline. 2CKO;2CKP;2CKQ;2I7Q;3F2R;3G15 NM_001277.2 47078276 CHKA 11 11q13.2 CHKA HGNC:1937 true hsa:1119 NP_001268.2:NM_001277.2;NP_997634.1:NM_212469.1 Heterodimer with CHKB . Homodimer 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 725 CDBP00724 Cystathionine beta-synthase P35520 CBS_HUMAN true false Enzyme Homo_sapiens CBS 551 60586.05 6.648 Involved in cysteine biosynthetic process from serine Only known pyridoxal phosphate-dependent enzyme that contains heme. Important regulator of hydrogen sulfide, especially in the brain, utilizing cysteine instead of serine to catalyze the formation of hydrogen sulfide. Hydrogen sulfide is a gastratransmitter with signaling and cytoprotective effects such as acting as a neuromodulator in the brain to protect neurons against hypoxic injury (By similarity). 1JBQ;1M54 L19501 388716 CBS 21 21q22.3 CBS HGNC:1550 true hsa:875 NP_000062.1:NM_000071.2;NP_001171479.1:NM_001178008.1;NP_001171480.1:NM_001178009.1 In the adult strongly expressed in liver and pancreas, some expression in heart and brain, weak expression in lung and kidney. In the fetus, expressed in brain, liver and kidney. Pyridoxal phosphate Homotetramer 2020-06-12T23:06:51Z 2020-07-28T02:25:55Z 0 1 0 726 CDBP00725 Alcohol dehydrogenase class-3 P11766 ADHX_HUMAN true false Enzyme Homo_sapiens ADH5 374 39723.945 7.488 Involved in zinc ion binding Class-III ADH is remarkably ineffective in oxidizing ethanol, but it readily catalyzes the oxidation of long-chain primary alcohols and the oxidation of S-(hydroxymethyl) glutathione. 1M6H;1M6W;1MA0;1MC5;1MP0;1TEH;2FZE;2FZW;3QJ5 M30471 178134 ADH5 4 4q23 ADH5 HGNC:253 true hsa:128 NP_000662.3:NM_000671.3 zinc ions Homodimer 2020-06-12T23:06:51Z 2020-07-28T02:25:55Z 0 1 0 727 CDBP00726 3-mercaptopyruvate sulfurtransferase P25325 THTM_HUMAN true false Enzyme Homo_sapiens MPST 297 33178.15 6.601 Involved in thiosulfate sulfurtransferase activity Transfer of a sulfur ion to cyanide or to other thiol compounds. Also has weak rhodanese activity. May have a role in cyanide degradation or in thiosulfate biosynthesis. 3OLH BC003508 13097573 MPST 22 22q13.1 MPST HGNC:7223 true hsa:4357 NP_001013454.1:NM_001013436.2;NP_001123989.1:NM_001130517.2;NP_066949.2:NM_021126.5 Monomer or disulfide-linked homodimer 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 728 CDBP00727 Alcohol dehydrogenase 1B P00325 ADH1B_HUMAN true false Enzyme Homo_sapiens ADH1B 375 39835.17 8.195 Involved in zinc ion binding 1DEH;1HDX;1HDY;1HDZ;1HSZ;1HTB;1U3U;1U3V;3HUD NM_000668.4 34577061 ADH1B 4 4q23 ADH1B HGNC:250 true hsa:125 MONOMER66-321 NP_000659.2:NM_000668.4 zinc ions Dimer of identical or non-identical chains of three types; alpha, beta and gamma 2020-06-12T23:06:51Z 2020-07-28T02:25:55Z 0 1 0 729 CDBP00728 Alcohol dehydrogenase class 4 mu/sigma chain P40394 ADH7_HUMAN true false Enzyme Homo_sapiens ADH7 386 41480.985 7.861 Involved in zinc ion binding Could function in retinol oxidation for the synthesis of retinoic acid, a hormone important for cellular differentiation. Medium-chain (octanol) and aromatic (m-nitrobenzaldehyde) compounds are the best substrates. Ethanol is not a good substrate but at the high ethanol concentrations reached in the digestive tract, it plays a role in the ethanol oxidation and contributes to the first pass ethanol metabolism. 1AGN;1D1S;1D1T NM_000673.4 71743840 ADH7 4 4q23-q24 ADH7 HGNC:256 true hsa:131 NP_000664.2:NM_000673.4;NP_001159976.1:NM_001166504.1 Preferentially expressed in stomach. zinc ions Homodimer 2020-06-12T23:06:51Z 2020-07-28T02:25:55Z 1 1 0 730 CDBP00729 Alcohol dehydrogenase 1A P07327 ADH1A_HUMAN true false Enzyme Homo_sapiens ADH1A 375 39858.37 7.947 Involved in zinc ion binding 1HSO;1U3T M12963 ADH1A 4 4q23 ADH1A HGNC:249 true hsa:124 NP_000658.1:NM_000667.3 zinc ions Dimer of identical or non-identical chains of three types; alpha, beta and gamma 2020-06-12T23:06:51Z 2020-07-28T02:25:55Z 0 1 0 731 CDBP00730 Alcohol dehydrogenase 6 P28332 ADH6_HUMAN true false Enzyme Homo_sapiens ADH6 368 39072.275 7.796 Involved in zinc ion binding NM_000672.3 4501939 ADH6 4 4q23 ADH6 HGNC:255 true hsa:130 NP_000663.1:NM_000672.3;NP_001095940.1:NM_001102470.1 Stomach and liver. zinc ions 2020-06-12T23:06:51Z 2020-07-28T02:25:55Z 0 1 0 732 CDBP00731 Alcohol dehydrogenase 1C P00326 ADH1G_HUMAN true false Enzyme Homo_sapiens ADH1C 375 39867.27 8.291 Involved in zinc ion binding 1DDA;1HT0;1U3W X04299 28404 ADH1C 4 4q23 ADH1C HGNC:251 true hsa:126 NP_000660.1:NM_000669.3 zinc ions Dimer of identical or non-identical chains of three types; alpha, beta and gamma 2020-06-12T23:06:51Z 2020-07-28T02:25:56Z 0 1 0 733 CDBP00732 Hydroxyacid oxidase 1 Q9UJM8 HAOX1_HUMAN true false Enzyme Homo_sapiens HAO1 370 40923.945 8.096 Involved in FMN binding Has 2-hydroxyacid oxidase activity. Most active on the 2-carbon substrate glycolate, but is also active on 2-hydroxy fatty acids, with high activity towards 2-hydroxy palmitate and 2-hydroxy octanoate. 2NZL;2RDT;2RDU;2RDW;2W0U AF244134 HAO1 20 20p12 HAO1 HGNC:4809 true hsa:54363 NP_060015.1:NM_017545.2 Liver. FMN 2020-06-12T23:06:51Z 2020-07-28T02:25:56Z 0 0 0 734 CDBP00733 Hydroxyacid oxidase 2 Q9NYQ3 HAOX2_HUMAN true false Enzyme Homo_sapiens HAO2 351 38838.35 7.63 Involved in FMN binding Catalyzes the oxidation of L-alpha-hydroxy acids as well as, more slowly, that of L-alpha-amino acids. AF203975 6478782 HAO2 1 1p13.3-p13.1 HAO2 HGNC:4810 true hsa:51179 NP_001005783.1:NM_001005783.1;NP_057611.1:NM_016527.2 Liver and kidney. FMN Homotetramer or homooctamer 2020-06-12T23:06:51Z 2020-07-28T02:25:56Z 0 0 0 735 CDBP00734 Serine--pyruvate aminotransferase P21549 SPYA_HUMAN true false Enzyme Homo_sapiens AGXT 392 43009.535 8.393 Involved in metabolic process 1H0C;1J04;3R9A X56092 36582 AGXT 2 2q37.3 AGXT HGNC:341 true hsa:189 NP_000021.1:NM_000030.2 Liver. Pyridoxal phosphate Homodimer 2020-06-12T23:06:51Z 2020-07-28T02:25:56Z 0 0 0 736 CDBP00735 Dihydrofolate reductase P00374 DYR_HUMAN true false Enzyme Homo_sapiens DHFR 187 21452.61 7.42 Involved in dihydrofolate reductase activity Key enzyme in folate metabolism. Contributes to the de novo mitochondrial thymidylate biosynthesis pathway. Catalyzes an essential reaction for de novo glycine and purine synthesis, and for DNA precursor synthesis. Binds its own mRNA and that of DHFRL1. 1BOZ;1DHF;1DLR;1DLS;1DRF;1HFP;1HFQ;1HFR;1KMS;1KMV;1MVS;1MVT;1OHJ;1OHK;1PD8;1PD9;1PDB;1S3U;1S3V;1S3W;1U71;1U72;1YHO;2C2S;2C2T;2DHF;2W3A;2W3B;2W3M;3EIG;3F8Y;3F8Z;3F91;3FS6;3GHC;3GHV;3GHW;3GI2;3GYF;3L3R;3N0H;3NTZ;3NU0;3NXO;3NXR;3NXT;3NXV;3NXX;3NXY;3NZD;3OAF;3S3V;3S7A;4DDR J00140 182724 DHFR 5 5q11.2-q13.2 DHFR HGNC:2861 true hsa:1719 NP_000782.1:NM_000791.3 Widely expressed in fetal and adult tissues, including throughout the fetal and adult brains and whole blood. Expression is higher in the adult brain than in the fetal brain. Homodimer 2020-06-12T23:06:51Z 2020-07-28T02:25:56Z 0 0 1 737 CDBP00736 Glutathione synthetase P48637 GSHB_HUMAN true false Enzyme Homo_sapiens GSS 474 52384.325 5.927 Involved in catalytic activity 2HGS L42531 GSS 20 20q11.2 GSS HGNC:4624 true hsa:2937 HS02174-MONOMER NP_000169.1:NM_000178.2 magnesium ion Homodimer 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 738 CDBP00737 Serine hydroxymethyltransferase, mitochondrial P34897 GLYM_HUMAN true false Enzyme Homo_sapiens SHMT2 504 54862.125 8.531 Involved in catalytic activity Contributes to the de novo mitochondrial thymidylate biosynthesis pathway. Required to prevent uracil accumulation in mtDNA. Interconversion of serine and glycine. Associates with mitochondrial DNA. 3OU5 BC011911 15080303 SHMT2 12 12q12-q14 SHMT2 HGNC:10852 true hsa:6472 HS00049-MONOMER NP_001159828.1:NM_001166356.1;NP_001159829.1:NM_001166357.1;NP_001159830.1:NM_001166358.1;NP_001159831.1:NM_001166359.1;NP_005403.2:NM_005412.5 Pyridoxal phosphate Homotetramer 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 739 CDBP00738 Sarcosine dehydrogenase, mitochondrial Q9UL12 SARDH_HUMAN true false Enzyme Homo_sapiens SARDH 918 101035.985 7.251 Involved in oxidoreductase activity AF095735 5902974 SARDH 9 9q33-q34 SARDH HGNC:10536 true hsa:1757 NP_001128179.1:NM_001134707.1;NP_009032.2:NM_007101.3 FAD covalently per monomer 2020-06-12T23:06:51Z 2020-07-28T02:25:56Z 0 0 0 740 CDBP00739 Serine hydroxymethyltransferase, cytosolic P34896 GLYC_HUMAN true false Enzyme Homo_sapiens SHMT1 483 53082.18 7.705 Involved in catalytic activity Interconversion of serine and glycine. 1BJ4 BC007979 14124914 SHMT1 17 17p11.2 SHMT1 HGNC:10850 true hsa:6470 NP_004160.3:NM_004169.3;NP_683718.1:NM_148918.1 Pyridoxal phosphate Homotetramer 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 741 CDBP00740 Glycine dehydrogenase [decarboxylating], mitochondrial P23378 GCSP_HUMAN true false Enzyme Homo_sapiens GLDC 1020 112728.805 7.111 Involved in lyase activity The glycine cleavage system catalyzes the degradation of glycine. The P protein binds the alpha-amino group of glycine through its pyridoxal phosphate cofactor; CO(2) is released and the remaining methylamine moiety is then transferred to the lipoamide cofactor of the H protein. AK314156 189054321 GLDC 9 9p22 GLDC HGNC:4313 true hsa:2731 NP_000161.2:NM_000170.2 Pyridoxal phosphate Homodimer. The glycine cleavage system is composed of four proteins: P, T, L and H 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 742 CDBP00741 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 Q16875 F263_HUMAN true false Enzyme Homo_sapiens PFKFB3 520 57286.965 8.201 Involved in catalytic activity Synthesis and degradation of fructose 2,6-bisphosphate. 2AXN;2DWO;2DWP;2I1V;3QPU;3QPV;3QPW AF041831 2827312 PFKFB3 10 10p15.1 PFKFB3 HGNC:8874 true hsa:5209 NP_001138915.1:NM_001145443.1;NP_004557.1:NM_004566.3 Ubiquitous. 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 743 CDBP00742 Mannose-6-phosphate isomerase P34949 MPI_HUMAN true false Enzyme Homo_sapiens MPI 423 46655.44 5.949 Involved in mannose-6-phosphate isomerase activity Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. X76057 416017 MPI 15 15q22-qter MPI HGNC:7216 true hsa:4351 NP_002426.1:NM_002435.1 Expressed in all tissues, but more abundant in heart, brain and skeletal muscle. zinc ion 2020-06-12T23:06:51Z 2020-07-28T02:25:56Z 0 1 0 744 CDBP00743 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 Q16877 F264_HUMAN true false Enzyme Homo_sapiens PFKFB4 469 54039.34 6.628 Involved in catalytic activity Synthesis and degradation of fructose 2,6-bisphosphate. D49818 PFKFB4 3 3p22-p21 PFKFB4 HGNC:8875 true hsa:5210 NP_004558.1:NM_004567.2 Homodimer 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 745 CDBP00744 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 P16118 F261_HUMAN true false Enzyme Homo_sapiens PFKFB1 471 54680.86 6.586 Involved in catalytic activity Synthesis and degradation of fructose 2,6-bisphosphate. 1K6M X52638 35503 PFKFB1 X Xp11.21 PFKFB1 HGNC:8872 true hsa:5207 NP_002616.2:NM_002625.3 Liver. Homodimer 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 746 CDBP00745 Transketolase-like protein 1 P51854 TKTL1_HUMAN true false Enzyme Homo_sapiens TKTL1 596 59302.195 5.866 Involved in catalytic activity Catalyzes the transfer of a two-carbon ketol group from a ketose donor to an aldose acceptor, via a covalent intermediate with the cofactor thiamine pyrophosphate (By similarity). AK292261 158257954 TKTL1 X Xq28 TKTL1 HGNC:11835 true hsa:8277 NP_001139406.1:NM_001145934.1;NP_036385.3:NM_012253.3 Expressed in fetal and adult heart, brain, lung, liver, and kidney, and in adult placenta, skeletal muscle and pancreas. Up-regulated in various epithelial tumors. magnesium ion . Can also utilize other divalent metal cations, such as Ca(2+), Mn(2+) and Co(2+);thiamine pyrophosphate Homodimer 2020-06-12T23:06:51Z 2020-07-28T02:25:57Z 0 1 0 747 CDBP00746 Fructose-1,6-bisphosphatase isozyme 2 O00757 F16P2_HUMAN true false Enzyme Homo_sapiens FBP2 339 36742.84 7.23 Involved in phosphoric ester hydrolase activity 3IFA;3IFC AL161728 55662226 FBP2 9 9q22.3 FBP2 HGNC:3607 true hsa:8789 NP_003828.2:NM_003837.2 magnesium ions Homotetramer 2020-06-12T23:06:51Z 2020-07-28T02:25:57Z 0 1 0 748 CDBP00747 Transaldolase P37837 TALDO_HUMAN true false Enzyme Homo_sapiens TALDO1 337 37539.74 6.812 Involved in catalytic activity Transaldolase is important for the balance of metabolites in the pentose-phosphate pathway. 1F05 AF010400 2612879 TALDO1 11 11p15.5-p15.4 TALDO1 HGNC:11559 true hsa:6888 NP_006746.1:NM_006755.1 Homodimer 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 749 CDBP00748 Fructose-1,6-bisphosphatase 1 P09467 F16P1_HUMAN true false Enzyme Homo_sapiens FBP1 338 36842.145 6.986 Involved in phosphoric ester hydrolase activity 1FTA;2FHY;2FIE;2FIX;2JJK;2VT5;2WBB;2WBD;2Y5K;2Y5L;3A29;3KBZ;3KC0;3KC1 NM_000507.3 16579888 FBP1 9 9q22.3 FBP1 HGNC:3606 true hsa:2203 NP_000498.2:NM_000507.3;NP_001121100.1:NM_001127628.1 magnesium ions Homotetramer 2020-06-12T23:06:51Z 2020-07-28T02:25:57Z 0 1 0 750 CDBP00749 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 O60825 F262_HUMAN true false Enzyme Homo_sapiens PFKFB2 505 54405.88 7.564 Involved in catalytic activity Synthesis and degradation of fructose 2,6-bisphosphate. NM_006212.2 64762406 PFKFB2 1 1q31 PFKFB2 HGNC:8873 true hsa:5208 NP_001018063.1:NM_001018053.1;NP_006203.2:NM_006212.2 Heart. Homodimer 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 751 CDBP00750 Transketolase P29401 TKT_HUMAN true false Enzyme Homo_sapiens TKT 623 67876.95 7.666 Involved in catalytic activity Catalyzes the transfer of a two-carbon ketol group from a ketose donor to an aldose acceptor, via a covalent intermediate with the cofactor thiamine pyrophosphate. 3MOS;3OOY AK289454 158259931 TKT 3 3p14.3 TKT HGNC:11834 true hsa:7086 NP_001055.1:NM_001064.3;NP_001128527.1:NM_001135055.2;NP_001244957.1:NM_001258028.1 magnesium ion . Can also utilize other divalent metal cations, such as Ca(2+), Mn(2+) and Co(2+);thiamine pyrophosphate Homodimer 2020-06-12T23:06:51Z 2020-07-28T02:25:57Z 0 0 0 752 CDBP00751 Glucose-6-phosphate isomerase P06744 G6PI_HUMAN true false Enzyme Homo_sapiens GPI 558 63146.745 8.328 Involved in glucose-6-phosphate isomerase activity Besides it's role as a glycolytic enzyme, mammalian GPI can function as a tumor-secreted cytokine and an angiogenic factor (AMF) that stimulates endothelial cell motility. GPI is also a neurotrophic factor (Neuroleukin) for spinal and sensory neurons. 1IAT;1IRI;1JIQ;1JLH;1NUH AF187554 6653226 GPI 19 19q13.1 GPI HGNC:4458 true hsa:2821 NP_000166.2:NM_000175.3;NP_001171651.1:NM_001184722.1 Homodimer in the catalytically active form, monomer in the secreted form 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 753 CDBP00752 Leukotriene C4 synthase Q16873 LTC4S_HUMAN true false Enzyme Homo_sapiens LTC4S 150 16566.465 10.187 Involved in enzyme activator activity Catalyzes the conjugation of leukotriene A4 with reduced glutathione to form leukotriene C4. 2PNO;2UUH;2UUI;3B29;3HKK;3LEO;3PCV U09353 LTC4S 5 5q35 LTC4S HGNC:6719 true hsa:4056 HS08566-MONOMER NP_665874.1:NM_145867.1 Detected in lung, platelets and the myelogenous leukemia cell line KG-1 (at protein level). LTC4S activity is present in eosinophils, basophils, mast cells, certain phagocytic mononuclear cells, endothelial cells, vascular smooth muscle cells and platelets. Homotrimer. Interacts with ALOX5AP and ALOX5 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 754 CDBP00753 Glutathione S-transferase Mu 2 P28161 GSTM2_HUMAN true false Enzyme Homo_sapiens GSTM2 218 25744.395 6.37 Involved in glutathione transferase activity Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. 1HNA;1HNB;1HNC;1XW5;1YKC;2AB6;2C4J;2GTU;3GTU;3GUR M63509 183301 GSTM2 1 1p13.3 GSTM2 HGNC:4634 true hsa:2946 NP_000839.1:NM_000848.3 Muscle. Homodimer 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 755 CDBP00754 Glutathione peroxidase 7 Q96SL4 GPX7_HUMAN true false Enzyme Homo_sapiens GPX7 187 20995.88 8.268 Involved in glutathione peroxidase activity It protects esophageal epithelia from hydrogen peroxide-induced oxidative stress. It suppresses acidic bile acid-induced reactive oxigen species (ROS) and protects against oxidative DNA damage and double-strand breaks. 2P31 AF320068 GPX7 1 1p32 GPX7 HGNC:4559 true hsa:2882 NP_056511.2:NM_015696.4 Expressed in esophageal epithelial cells; expression is up-regulated after exposure to acidic bile acids. 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 756 CDBP00755 Epididymal secretory glutathione peroxidase O75715 GPX5_HUMAN true false Enzyme Homo_sapiens GPX5 221 25202.14 8.64 Involved in glutathione peroxidase activity Protects cells and enzymes from oxidative damage, by catalyzing the reduction of hydrogen peroxide, lipid peroxides and organic hydroperoxide, by glutathione. May constitute a glutathione peroxidase-like protective system against peroxide damage in sperm membrane lipids. 2I3Y AJ005277 3288455 GPX5 6 6p22.1 GPX5 HGNC:4557 true hsa:2880 NP_001500.1:NM_001509.2;NP_003987.2:NM_003996.3 Epididymis. 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 757 CDBP00756 Glutathione S-transferase Mu 1 P09488 GSTM1_HUMAN true false Enzyme Homo_sapiens GSTM1 218 25711.555 6.691 Involved in glutathione transferase activity Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. 1GTU;1XW6;1XWK;1YJ6;2F3M X08020 31924 GSTM1 1 1p13.3 GSTM1 HGNC:4632 true hsa:2944 NP_000552.2:NM_000561.3;NP_666533.1:NM_146421.2 Liver (at protein level). Homodimer 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 758 CDBP00757 Hydroxyacylglutathione hydrolase, mitochondrial Q16775 GLO2_HUMAN true false Enzyme Homo_sapiens HAGH 308 28859.855 7.323 Involved in hydrolase activity Thiolesterase that catalyzes the hydrolysis of S-D-lactoyl-glutathione to form glutathione and D-lactic acid. 1QH3;1QH5;2F50 NM_005326.4 94538322 HAGH 16 16p13.3 HAGH HGNC:4805 true hsa:3029 NP_001035517.1:NM_001040427.1;NP_005317.2:NM_005326.4 Expressed in liver and kidney. zinc ions Monomer 2020-06-12T23:06:51Z 2020-07-28T02:25:58Z 0 1 0 759 CDBP00758 Glutathione S-transferase kappa 1 Q9Y2Q3 GSTK1_HUMAN true false Enzyme Homo_sapiens GSTK1 226 31565.605 8.737 Involved in protein disulfide oxidoreductase activity Significant glutathione conjugating activity is found only with the model substrate, 1-chloro-2,4-dinitrobenzene (CDNB). 1YZX;3RPN;3RPP AY520571 GSTK1 7 7q34 GSTK1 HGNC:16906 true hsa:373156 NP_001137151.1:NM_001143679.1;NP_001137152.1:NM_001143680.1;NP_001137153.1:NM_001143681.1;NP_057001.1:NM_015917.2 Ubiquitous. Homodimer 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 760 CDBP00759 Microsomal glutathione S-transferase 3 O14880 MGST3_HUMAN true false Enzyme Homo_sapiens MGST3 152 16516.185 9.382 Involved in glutathione transferase activity Also functions as a glutathione peroxidase. AF026977 2583081 MGST3 1 1q23 MGST3 HGNC:7064 true hsa:4259 NP_004519.1:NM_004528.3 Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 761 CDBP00760 Glutathione S-transferase Mu 3 P21266 GSTM3_HUMAN true false Enzyme Homo_sapiens GSTM3 225 26559.32 5.538 Involved in glutathione transferase activity Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. May govern uptake and detoxification of both endogenous compounds and xenobiotics at the testis and brain blood barriers. 3GTU J05459 306820 GSTM3 1 1p13.3 GSTM3 HGNC:4635 true hsa:2947 NP_000840.2:NM_000849.4 Testis and brain. Homodimer 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 762 CDBP00761 Glutathione S-transferase A1 P08263 GSTA1_HUMAN true false Enzyme Homo_sapiens GSTA1 222 25630.785 8.883 Involved in glutathione transferase activity Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. 1GSD;1GSE;1GSF;1GUH;1K3L;1K3O;1K3Y;1LBK;1PKW;1PKZ;1PL1;1PL2;1USB;1XWG;1YDK;2R3X;2R6K;3I69;3I6A;3IK9;3KTL;3L0H;3Q74;3U6V;3ZFB;3ZFL M15872 GSTA1 6 6p12.1 GSTA1 HGNC:4626 true hsa:2938 G66-32542-MONOMER NP_665683.1:NM_145740.3 Liver. Homodimer or heterodimer of GSTA1 and GSTA2 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 763 CDBP00762 Maleylacetoacetate isomerase O43708 MAAI_HUMAN true false Enzyme Homo_sapiens GSTZ1 216 17895.68 5.954 Involved in catalytic activity Bifunctional enzyme showing minimal glutathione-conjugating activity with ethacrynic acid and 7-chloro-4-nitrobenz-2-oxa-1,3-diazole and maleylacetoacetate isomerase activity. Has also low glutathione peroxidase activity with T-butyl and cumene hydroperoxides. Is able to catalyze the glutathione dependent oxygenation of dichloroacetic acid to glyoxylic acid. 1FW1 AC007954 7417477 GSTZ1 14 14q24.3 GSTZ1 HGNC:4643 true hsa:2954 HS02114-MONOMER NP_001504.2:NM_001513.3;NP_665877.1:NM_145870.2;NP_665878.2:NM_145871.2 Mostly expressed in liver followed by kidney, skeletal muscle and brain. Also expressed in melanocytes, synovium, placenta, breast and fetal liver and heart. Glutathione. Required for the MAAI activity Homodimer 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 764 CDBP00763 Microsomal glutathione S-transferase 1 P10620 MGST1_HUMAN true false Enzyme Homo_sapiens MGST1 155 17598.45 9.386 Involved in glutathione transferase activity Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Has a wide substrate specificity. J03746 MGST1 12 12p12.3-p12.1 MGST1 HGNC:7061 true hsa:4257 NP_001247440.1:NM_001260511.1;NP_001247441.1:NM_001260512.1;NP_064696.1:NM_020300.4;NP_665707.1:NM_145764.2;NP_665734.1:NM_145791.2;NP_665735.1:NM_145792.2 Highly expressed in liver. Homotrimer; The trimer binds only one molecule of glutathione 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 765 CDBP00764 Glutathione S-transferase Mu 4 Q03013 GSTM4_HUMAN true false Enzyme Homo_sapiens GSTM4 218 25561.095 5.89 Involved in glutathione transferase activity Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Active on 1-chloro-2,4-dinitrobenzene. 4GTU M96234 306819 GSTM4 1 1p13.3 GSTM4 HGNC:4636 true hsa:2948 NP_000841.1:NM_000850.4;NP_671489.1:NM_147148.2 Expressed in a wide variety of tissues. Homodimer 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 766 CDBP00765 Glutathione S-transferase Mu 5 P46439 GSTM5_HUMAN true false Enzyme Homo_sapiens GSTM5 218 25674.455 7.387 Involved in glutathione transferase activity Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. L02321 468260 GSTM5 1 1p13.3 GSTM5 HGNC:4637 true hsa:2949 NP_000842.2:NM_000851.3 Homodimer 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 767 CDBP00766 Microsomal glutathione S-transferase 2 Q99735 MGST2_HUMAN true false Enzyme Homo_sapiens MGST2 147 16620.4 9.557 Involved in enzyme activator activity Can catalyze the production of LTC4 from LTA4 and reduced glutathione. Can catalyze the conjugation of 1-chloro-2,4-dinitrobenzene with reduced glutathione. U77604 1747521 MGST2 4 4q28.3 MGST2 HGNC:7063 true hsa:4258 NP_001191295.1:NM_001204366.1;NP_001191297.1:NM_001204368.1;NP_002404.1:NM_002413.4 Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. Homotrimer 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 768 CDBP00767 Glutathione S-transferase omega-1 P78417 GSTO1_HUMAN true false Enzyme Homo_sapiens GSTO1 241 27565.6 6.589 Involved in glutathione transferase activity Exhibits glutathione-dependent thiol transferase and dehydroascorbate reductase activities. Has S-(phenacyl)glutathione reductase activity. Has also glutathione S-transferase activity. Participates in the biotransformation of inorganic arsenic and reduces monomethylarsonic acid (MMA) and dimethylarsonic acid. 1EEM;3LFL;3VLN U90313 GSTO1 10 10q25.1 GSTO1 HGNC:13312 true hsa:9446 HS07564-MONOMER NP_004823.1:NM_004832.2 Ubiquitous. Highest expression in liver, pancreas, skeletal muscle, spleen, thymus, colon, blood leukocyte and heart. Lowest expression in brain, placenta and lung. Homodimer 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 769 CDBP00768 Glutathione S-transferase A5 Q7RTV2 GSTA5_HUMAN true false Enzyme Homo_sapiens GSTA5 222 25721.725 8.027 Involved in glutathione transferase activity AL590363 55960291 GSTA5 6 6p12.2 GSTA5 HGNC:19662 true hsa:221357 NP_714543.1:NM_153699.1 Expression not detected. Homodimer 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 770 CDBP00769 Glutathione S-transferase A2 P09210 GSTA2_HUMAN true false Enzyme Homo_sapiens GSTA2 222 25663.675 8.587 Involved in glutathione transferase activity Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. 1AGS;2VCT;2WJU;4ACS AL109918 8218078 GSTA2 6 6p12.1 GSTA2 HGNC:4627 true hsa:2939 HS01846-MONOMER NP_000837.3:NM_000846.4 Liver. Homodimer or heterodimer of GSTA1 and GSTA2 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 771 CDBP00770 Glutathione peroxidase 6 P59796 GPX6_HUMAN true false Enzyme Homo_sapiens GPX6 221 24970.46 6.669 Involved in glutathione peroxidase activity AY324826 GPX6 6 6p22.1 GPX6 HGNC:4558 true hsa:257202 NP_874360.1:NM_182701.1 Expressed in olfactory epithelium and embryos. 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 772 CDBP00771 Glutathione S-transferase A3 Q16772 GSTA3_HUMAN true false Enzyme Homo_sapiens GSTA3 222 25301.355 9.196 Involved in glutathione transferase activity Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Catalyzes isomerization reactions that contribute to the biosynthesis of steroid hormones. Efficiently catalyze obligatory double-bond isomerizations of delta(5)-androstene-3,17-dione and delta(5)-pregnene-3,20-dione, precursors to testosterone and progesterone, respectively. 1TDI;2VCV AF508266 114731581 GSTA3 6 6p12.1 GSTA3 HGNC:4628 true hsa:2940 NP_000838.3:NM_000847.4 Homodimer 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 773 CDBP00772 Glutathione S-transferase A4 O15217 GSTA4_HUMAN true false Enzyme Homo_sapiens GSTA4 222 25703.905 8.267 Involved in glutathione transferase activity Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. This isozyme has a high catalytic efficiency with 4-hydroxyalkenals such as 4-hydroxynonenal (4-HNE). 1GUL;1GUM;3IK7 Y13047 2597924 GSTA4 6 6p12.1 GSTA4 HGNC:4629 true hsa:2941 NP_001503.1:NM_001512.3 Expressed at a high level in brain, placenta, and skeletal muscle and much lower in lung and liver. Homodimer 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 774 CDBP00773 Glutathione peroxidase 1 P07203 GPX1_HUMAN true false Enzyme Homo_sapiens GPX1 201 22087.94 6.548 Involved in glutathione peroxidase activity Protects the hemoglobin in erythrocytes from oxidative breakdown. 2F8A Y00433 577777 GPX1 3 3p21.3 GPX1 HGNC:4553 true hsa:2876 HS00019-MONOMER NP_000572.2:NM_000581.2;NP_958799.1:NM_201397.1 Homotetramer. Interacts with MIEN1 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 775 CDBP00774 Phospholipid hydroperoxide glutathione peroxidase, mitochondrial P36969 GPX4_HUMAN true false Enzyme Homo_sapiens GPX4 197 25046.57 9.083 Involved in glutathione peroxidase activity Protects cells against membrane lipid peroxidation and cell death. Required for normal sperm development and male fertility. Could play a major role in protecting mammals from the toxicity of ingested lipid hydroperoxides. Essential for embryonic development. Protects from radiation and oxidative damage (By similarity). 2GS3;2OBI X71973 825667 GPX4 19 19p13.3 GPX4 HGNC:4556 true hsa:2879 HS09562-MONOMER NP_001034936.1:NM_001039847.1;NP_001034937.1:NM_001039848.1;NP_002076.2:NM_002085.3 Present primarily in testis. Monomer. Has a tendency to form higher mass oligomers 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 776 CDBP00775 Glutathione peroxidase 3 P22352 GPX3_HUMAN true false Enzyme Homo_sapiens GPX3 226 25552.185 8.128 Involved in glutathione peroxidase activity Protects cells and enzymes from oxidative damage, by catalyzing the reduction of hydrogen peroxide, lipid peroxides and organic hydroperoxide, by glutathione. 2R37 NM_002084.3 6006001 GPX3 5 5q23 GPX3 HGNC:4555 true hsa:2878 HS08224-MONOMER NP_002075.2:NM_002084.3 Secreted in plasma. Homotetramer 2020-06-12T23:06:51Z 2020-07-28T02:25:59Z 0 0 1 777 CDBP00776 Glutathione S-transferase omega-2 Q9H4Y5 GSTO2_HUMAN true false Enzyme Homo_sapiens GSTO2 243 24399.09 7.633 Involved in glutathione transferase activity Exhibits glutathione-dependent thiol transferase activity. Has high dehydroascorbate reductase activity and may contribute to the recycling of ascorbic acid. Participates in the biotransformation of inorganic arsenic and reduces monomethylarsonic acid (MMA). 3Q18;3Q19;3QAG AY350731 GSTO2 10 10q25.1 GSTO2 HGNC:23064 true hsa:119391 NP_001177942.1:NM_001191013.1;NP_001177943.1:NM_001191014.1;NP_001177944.1:NM_001191015.1;NP_899062.1:NM_183239.1 Expressed in a range of tissues, including the liver, kidney, skeletal muscle and prostate. Strongest expression in the testis. 2020-06-12T23:06:51Z 2020-06-12T23:06:51Z 0 0 0 778 CDBP00777 Glutathione S-transferase theta-1 P30711 GSTT1_HUMAN true false Enzyme Homo_sapiens GSTT1 240 27334.755 7.492 Posttranslational modification, protein turnover, chaperones Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Acts on 1,2-epoxy-3-(4-nitrophenoxy)propane, phenethylisothiocyanate 4-nitrobenzyl chloride and 4-nitrophenethyl bromide. Displays glutathione peroxidase activity with cumene hydroperoxide. 2C3N;2C3Q;2C3T X79389 510905 GSTT1 22 22q11.23 GSTT1 HGNC:4641 true hsa:2952 NP_000844.2:NM_000853.2 Found in erythrocyte. Expressed at low levels in liver. In lung, expressed at low levels in Clara cells and ciliated cells at the alveolar/bronchiolar junction. Absent from epithelial cells of larger bronchioles. Homodimer 2020-06-12T23:06:52Z 2020-07-28T02:25:59Z 0 0 0 779 CDBP00778 Glutathione peroxidase 2 P18283 GPX2_HUMAN true false Enzyme Homo_sapiens GPX2 190 21953.835 7.776 Involved in glutathione peroxidase activity Could play a major role in protecting mammals from the toxicity of ingested organic hydroperoxides. Tert-butyl hydroperoxide, cumene hydroperoxide and linoleic acid hydroperoxide but not phosphatidycholine hydroperoxide, can act as acceptors. 2HE3 X53463 4902773 GPX2 14 14q24.1 GPX2 HGNC:4554 true hsa:2877 HS11006-MONOMER NP_002074.2:NM_002083.3 Mostly in liver and gastrointestinal tract, not found in heart or kidney. Homotetramer 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 780 CDBP00779 Glutathione S-transferase P P09211 GSTP1_HUMAN true false Enzyme Homo_sapiens GSTP1 210 23355.625 5.64 Involved in glutathione transferase activity Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Regulates negatively CDK5 activity via p25/p35 translocation to prevent neurodegeneration. 10GS;11GS;12GS;13GS;14GS;16GS;17GS;18GS;19GS;1AQV;1AQW;1AQX;1EOG;1EOH;1GSS;1KBN;1LBK;1MD3;1MD4;1PGT;1PX6;1PX7;1ZGN;20GS;22GS;2A2R;2A2S;2GSS;2J9H;2PGT;3CSH;3CSI;3CSJ;3DD3;3DGQ;3GSS;3GUS;3HJM;3HJO;3HKR;3IE3;3KM6;3KMN;3KMO;3N9J;3PGT;4GSS;4PGT;5GSS;6GSS;7GSS;8GSS;9GSS AY324387 32187525 GSTP1 11 11q13 GSTP1 HGNC:4638 true hsa:2950 NP_000843.1:NM_000852.3 Homodimer. Interacts with CDK5 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 781 CDBP00780 Glycerol kinase 2 Q14410 GLPK2_HUMAN true false Enzyme Homo_sapiens GK2 553 60593.32 5.776 Involved in phosphotransferase activity, alcohol group as acceptor Key enzyme in the regulation of glycerol uptake and metabolism (By similarity). AK292241 158257914 GK2 4 4q13 GK2 HGNC:4291 true hsa:2712 NP_149991.2:NM_033214.2 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 782 CDBP00781 Glycerol kinase P32189 GLPK_HUMAN true false Enzyme Homo_sapiens GK 559 57488.675 6.313 Involved in phosphotransferase activity, alcohol group as acceptor Key enzyme in the regulation of glycerol uptake and metabolism. AJ252550 5834428 GK X Xp21.3 GK HGNC:4289 true hsa:2710 NP_000158.1:NM_000167.5;NP_001121599.1:NM_001128127.2;NP_001191948.1:NM_001205019.1;NP_976325.1:NM_203391.3 Highly expressed in the liver, kidney and testis. Isoform 2 and isoform 3 are expressed specifically in testis and fetal liver, but not in the adult liver. 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 783 CDBP00782 Glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic P21695 GPDA_HUMAN true false Enzyme Homo_sapiens GPD1 349 37567.4 6.176 Involved in oxidoreductase activity 1WPQ;1X0V;1X0X BC032234 21594877 GPD1 12 12q12-q13 GPD1 HGNC:4455 true hsa:2819 HS09586-MONOMER NP_005267.2:NM_005276.3 Homodimer 2020-06-12T23:06:52Z 2020-07-28T02:25:59Z 0 0 0 784 CDBP00783 Glycerol-3-phosphate acyltransferase 1, mitochondrial Q9HCL2 GPAT1_HUMAN true false Enzyme Homo_sapiens GPAM 828 93793.895 7.735 Involved in acyltransferase activity Esterifies acyl-group from acyl-ACP to the sn-1 position of glycerol-3-phosphate, an essential step in glycerolipid biosynthesis. NM_020918.4 190358539 GPAM 10 10q25.2 GPAM HGNC:24865 true hsa:57678 57678-MONOMER NP_001231878.1:NM_001244949.1;NP_065969.3:NM_020918.5 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 785 CDBP00784 Beta-glucuronidase P08236 BGLR_HUMAN true false Enzyme Homo_sapiens GUSB 651 74731.46 7.018 Involved in hydrolase activity, hydrolyzing O-glycosyl compounds Plays an important role in the degradation of dermatan and keratan sulfates. 1BHG;3HN3 M15182 183233 GUSB 7 7q21.11 GUSB HGNC:4696 true hsa:2990 NP_000172.2:NM_000181.3 Homotetramer 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 786 CDBP00785 Inositol oxygenase Q9UGB7 MIOX_HUMAN true false Enzyme Homo_sapiens MIOX 285 33009.33 5.89 Involved in iron ion binding 2IBN AF197129 6694290 MIOX 22 22q13.3 MIOX HGNC:14522 true hsa:55586 NP_060054.4:NM_017584.5 Kidney specific. iron ions 2020-06-12T23:06:52Z 2020-07-28T02:25:59Z 0 1 0 787 CDBP00786 4-hydroxyphenylpyruvate dioxygenase P32754 HPPD_HUMAN true false Enzyme Homo_sapiens HPD 393 40497.105 6.343 Involved in 4-hydroxyphenylpyruvate dioxygenase activity Key enzyme in the degradation of tyrosine. 3ISQ X72389 288105 HPD 12 12q24-qter HPD HGNC:5147 true hsa:3242 HS08267-MONOMER NP_001165464.1:NM_001171993.1;NP_002141.1:NM_002150.2 iron ion Homodimer 2020-06-12T23:06:52Z 2020-07-28T02:25:59Z 0 1 0 788 CDBP00787 Homogentisate 1,2-dioxygenase Q93099 HGD_HUMAN true false Enzyme Homo_sapiens HGD 445 49963.41 6.962 Involved in homogentisate 1,2-dioxygenase activity 1EY2;1EYB NM_000187.3 115527117 HGD 3 3q13.33 HGD HGNC:4892 true hsa:3081 HS03728-MONOMER NP_000178.2:NM_000187.3 Highest expression in the prostate, small intestine, colon, kidney and liver. Iron 2020-06-12T23:06:52Z 2020-07-28T02:25:59Z 0 1 0 789 CDBP00788 Beta-galactosidase P16278 BGAL_HUMAN true false Enzyme Homo_sapiens GLB1 677 Involved in hydrolase activity, hydrolyzing O-glycosyl compounds Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans. Isoform 2 has no beta-galactosidase catalytic activity, but plays functional roles in the formation of extracellular elastic fibers (elastogenesis) and in the development of connective tissue. Seems to be identical to the elastin-binding protein (EBP), a major component of the non-integrin cell surface receptor expressed on fibroblasts, smooth muscle cells, chondroblasts, leukocytes, and certain cancer cell types. In elastin producing cells, associates with tropoelastin intracellularly and functions as a recycling molecular chaperone which facilitates the secretions of tropoelastin and its assembly into elastic fibers. 3THC;3THD M22590 179419 GLB1 GLB1 HGNC:4298 true hsa:2720 NP_000395.2:NM_000404.2;NP_001073279.1:NM_001079811.1;NP_001129074.1:NM_001135602.1 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 790 CDBP00789 Queuine tRNA-ribosyltransferase Q9BXR0 TGT_HUMAN true false Enzyme Homo_sapiens QTRT1 403 44047.3 7.229 Involved in queuine tRNA-ribosyltransferase activity Interacts with QTRTD1 to form an active queuine tRNA-ribosyltransferase. This enzyme exchanges queuine for the guanine at the wobble position of tRNAs with GU(N) anticodons (tRNA-Asp, -Asn, -His and -Tyr), thereby forming the hypermodified nucleoside queuosine (Q) (7-(((4,5-cis-dihydroxy-2-cyclopenten-1-yl)amino)methyl)-7-deazaguanosine) (By similarity). AF302783 QTRT1 19 19p13.3 QTRT1 HGNC:23797 true hsa:81890 NP_112486.1:NM_031209.2 zinc ion Interacts with QTRTD1 2020-06-12T23:06:52Z 2020-07-28T02:26:00Z 0 1 0 791 CDBP00790 Ceramide glucosyltransferase Q16739 CEGT_HUMAN true false Enzyme Homo_sapiens UGCG 394 44853.255 7.789 Cell wall/membrane/envelope biogenesis Catalyzes the first glycosylation step in glycosphingolipid biosynthesis, the transfer of glucose to ceramide. May also serve as a "flippase". D50840 UGCG 9 9q31 UGCG HGNC:12524 true hsa:7357 NP_003349.1:NM_003358.1 Found in all tissues examined. 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 792 CDBP00791 Testosterone 17-beta-dehydrogenase 3 P37058 DHB3_HUMAN true false Enzyme Homo_sapiens HSD17B3 310 34515.345 8.66 Involved in oxidoreductase activity Favors the reduction of androstenedione to testosterone. Uses NADPH while the two other EDH17B enzymes use NADH. U05659 HSD17B3 9 9q22 HSD17B3 HGNC:5212 true hsa:3293 HS05461-MONOMER NP_000188.1:NM_000197.1 Testis. 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 793 CDBP00792 Estradiol 17-beta-dehydrogenase 1 P14061 DHB1_HUMAN true false Enzyme Homo_sapiens HSD17B1 328 34949.715 5.69 Involved in estradiol 17-beta-dehydrogenase activity Favors the reduction of estrogens and androgens. Also has 20-alpha-HSD activity. Uses preferentially NADH. 1A27;1BHS;1DHT;1EQU;1FDS;1FDT;1FDU;1FDV;1FDW;1I5R;1IOL;1JTV;1QYV;1QYW;1QYX;3DEY;3DHE;3HB4;3HB5;3KLM;3KLP;3KM0 X13440 23365 HSD17B1 17 17q11-q21 HSD17B1 HGNC:5210 true hsa:3292 NP_000404.2:NM_000413.2 Homodimer 2020-06-12T23:06:52Z 2020-07-28T02:26:00Z 0 0 0 794 CDBP00793 3-keto-steroid reductase P56937 DHB7_HUMAN true false Enzyme Homo_sapiens HSD17B7 341 38205.77 8.103 Involved in oxidoreductase activity Responsible for the reduction of the keto group on the C-3 of sterols. AF098786 6721095 HSD17B7 1 1q23 HSD17B7 HGNC:5215 true hsa:51478 HS05604-MONOMER NP_057455.1:NM_016371.2 Highly expressed in adrenal gland, liver, lung and thymus. Expressed in breast, ovaries, pituitary gland, pregnant uterus, prostate, kidney, lymph node, small intestine, spinal cord and trachea. Weakly expressed in all other tissues tested. Isoform 3 is expressed in eye ciliary epithelial cells and neuroendocrine cells. 2020-06-12T23:06:52Z 2020-07-28T02:26:00Z 0 0 0 795 CDBP00794 Folylpolyglutamate synthase, mitochondrial Q05932 FOLC_HUMAN true false Enzyme Homo_sapiens FPGS 587 59173.37 7.399 Involved in tetrahydrofolylpolyglutamate synthase activity Catalyzes conversion of folates to polyglutamate derivatives allowing concentration of folate compounds in the cell and the intracellular retention of these cofactors, which are important substrates for most of the folate-dependent enzymes that are involved in one-carbon transfer reactions involved in purine, pyrimidine and amino acid synthesis. Unsubstitued reduced folates are the preferred substrates. Metabolizes methotrexate (MTX) to polyglutamates. BC064393 39992602 FPGS 9 9q34.1 FPGS HGNC:3824 true hsa:2356 NP_001018088.1:NM_001018078.1;NP_004948.4:NM_004957.4 A monovalent cation. K(+) is most effective, followed by NH4(+) and Rb(+). Na(+), Li(+) and Cs(+) are ineffective Monomer 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 796 CDBP00795 Alanine aminotransferase 1 P24298 ALAT1_HUMAN true false Enzyme Homo_sapiens GPT 496 54636.415 7.182 Involved in 1-aminocyclopropane-1-carboxylate synthase activity Catalyzes the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and glutamate. Participates in cellular nitrogen metabolism and also in liver gluconeogenesis starting with precursors transported from skeletal muscles (By similarity). BT006992 GPT 8 8q24.3 GPT HGNC:4552 true hsa:2875 HS09610-MONOMER NP_005300.1:NM_005309.2 Liver, kidney, heart, and skeletal muscles. Expressed at moderate levels in the adipose tissue. Pyridoxal phosphate Homodimer 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 797 CDBP00796 Phosphoserine aminotransferase Q9Y617 SERC_HUMAN true false Enzyme Homo_sapiens PSAT1 370 35188.305 6.68 Involved in metabolic process Catalyzes the reversible conversion of 3-phosphohydroxypyruvate to phosphoserine and of 3-hydroxy-2-oxo-4-phosphonooxybutanoate to phosphohydroxythreonine (By similarity). 3E77 NM_058179.2 17402893 PSAT1 9 9q21.2 PSAT1 HGNC:19129 true hsa:29968 NP_066977.1:NM_021154.3;NP_478059.1:NM_058179.2 Expressed at high levels in the brain, liver, kidney and pancreas, and very weakly expressed in the thymus, prostate, testis and colon. pyridoxal phosphate Homodimer 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 798 CDBP00797 Alpha-aminoadipic semialdehyde synthase, mitochondrial Q9UDR5 AASS_HUMAN true false Enzyme Homo_sapiens AASS 926 102130.895 6.638 Involved in oxidoreductase activity Bifunctional enzyme that catalyzes the first two steps in lysine degradation. The N-terminal and the C-terminal contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively. AF229180 AASS 7 7q31.3 AASS HGNC:17366 true hsa:10157 HS00244-MONOMER NP_005754.2:NM_005763.3 Expressed in all 16 tissues examined with highest expression in the liver. Homodimer 2020-06-12T23:06:52Z 2020-07-28T02:26:00Z 0 0 0 799 CDBP00798 Phosphoribosylformylglycinamidine synthase O15067 PUR4_HUMAN true false Enzyme Homo_sapiens PFAS 1338 144733.165 5.763 Involved in catalytic activity BC146768 148922280 PFAS 17 17p13.1 PFAS HGNC:8863 true hsa:5198 NP_036525.1:NM_012393.2 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 800 CDBP00799 Delta-1-pyrroline-5-carboxylate synthase P54886 P5CS_HUMAN true false Enzyme Homo_sapiens ALDH18A1 795 87088.29 7.127 Involved in oxidoreductase activity Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine. 2H5G X94453 1304314 ALDH18A1 10 10q24.3 ALDH18A1 HGNC:9722 true hsa:5832 HS00730-MONOMER NP_001017423.1:NM_001017423.1;NP_002851.2:NM_002860.3 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 801 CDBP00800 5-oxoprolinase O14841 OPLA_HUMAN true false Enzyme Homo_sapiens OPLAH 1288 137456.195 6.581 Involved in hydrolase activity Catalyzes the cleavage of 5-oxo-L-proline to form L-glutamate coupled to the hydrolysis of ATP to ADP and inorganic phosphate. AB122018 OPLAH 8 8q24.3 OPLAH HGNC:8149 true hsa:26873 NP_060040.1:NM_017570.3 Homodimer 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 802 CDBP00801 Ethanolamine kinase 1 Q9HBU6 EKI1_HUMAN true false Enzyme Homo_sapiens ETNK1 452 27994.955 8.49 Cell wall/membrane/envelope biogenesis Highly specific for ethanolamine phosphorylation. May be a rate-controlling step in phosphatidylethanolamine biosynthesis. AF207600 9998952 ETNK1 12 12p12.1 ETNK1 HGNC:24649 true hsa:55500 NP_001034570.1:NM_001039481.1;NP_061108.2:NM_018638.4 Expressed in kidney, liver, placenta, heart, leukocyte, ovary and testis. 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 803 CDBP00802 NADP-dependent malic enzyme P48163 MAOX_HUMAN false false Metal Binding Homo_sapiens ME1 572 64149.075 6.126 Involved in oxidoreductase activity 2AW5 X77244 495123 ME1 6 6q12 ME1 HGNC:6983 true hsa:4199 NP_002386.1:NM_002395.4 Expressed in all tissues tested including liver, placenta and white adipose tissue. Divalent metal cations. Prefers magnesium or manganese Homotetramer 2020-06-12T23:06:52Z 2020-07-28T02:31:56Z 0 1 0 804 CDBP00803 Malate dehydrogenase, mitochondrial P40926 MDHM_HUMAN true false Enzyme Homo_sapiens MDH2 338 35502.935 8.676 Involved in oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor 2DFD AF047470 2906146 MDH2 7 7cen-q22 MDH2 HGNC:6971 true hsa:4191 HS07366-MONOMER NP_005909.2:NM_005918.2 Homodimer 2020-06-12T23:06:52Z 2020-07-28T02:26:01Z 0 0 0 805 CDBP00804 NADP-dependent malic enzyme, mitochondrial Q16798 MAON_HUMAN false false Metal Binding Homo_sapiens ME3 604 67067.875 7.978 Involved in oxidoreductase activity X79440 535012 ME3 11 11cen-q22.3 ME3 HGNC:6985 true hsa:10873 NP_001014811.1:NM_001014811.1;NP_001155058.1:NM_001161586.1;NP_006671.2:NM_006680.2 Expressed predominantly in organs with a low-division rate. Divalent metal cations. Prefers magnesium or manganese 2020-06-12T23:06:52Z 2020-07-28T02:31:56Z 0 1 0 806 CDBP00805 Malate dehydrogenase, cytoplasmic P40925 MDHC_HUMAN true false Enzyme Homo_sapiens MDH1 334 38627.255 7.711 Involved in oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor D55654 MDH1 2 2p13.3 MDH1 HGNC:6970 true hsa:4190 HS00361-MONOMER NP_001186040.1:NM_001199111.1;NP_001186041.1:NM_001199112.1;NP_005908.1:NM_005917.3 Homodimer 2020-06-12T23:06:52Z 2020-07-28T02:26:01Z 0 0 0 807 CDBP00806 Fumarate hydratase, mitochondrial P07954 FUMH_HUMAN true false Enzyme Homo_sapiens FH 510 54636.585 8.758 Involved in fumarate hydratase activity Also acts as a tumor suppressor. 3E04 BC003108 13111881 FH 1 1q42.1 FH HGNC:3700 true hsa:2271 ENSG00000091483-MONOMER NP_000134.2:NM_000143.3 Expressed in red blood cells; underexpressed in red blood cells (cytoplasm) of patients with hereditary non-spherocytic hemolytic anemia of unknown etiology. Homotetramer 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 808 CDBP00807 NAD-dependent malic enzyme, mitochondrial P23368 MAOM_HUMAN false false Metal Binding Homo_sapiens ME2 584 53585.73 8.54 Involved in oxidoreductase activity 1DO8;1EFK;1EFL;1GZ3;1GZ4;1PJ2;1PJ3;1PJ4;1PJL;1QR6 M55905 ME2 18 18q21 ME2 HGNC:6984 true hsa:4200 NP_001161807.1:NM_001168335.1;NP_002387.1:NM_002396.4 Divalent metal cations. Prefers magnesium or manganese Homotetramer 2020-06-12T23:06:52Z 2020-07-28T02:31:56Z 0 1 0 809 CDBP00808 Inositol monophosphatase 1 P29218 IMPA1_HUMAN true false Enzyme Homo_sapiens IMPA1 277 36694.375 7.917 Involved in inositol or phosphatidylinositol phosphatase activity Responsible for the provision of inositol required for synthesis of phosphatidylinositol and polyphosphoinositides and has been implicated as the pharmacological target for lithium action in brain. Can use myo-inositol monophosphates, myo-inositol 1,3-diphosphate, myo-inositol 1,4-diphosphate, scyllo-inositol-phosphate, glucose-1-phosphate, glucose-6-phosphate, fructose-1-phosphate, beta-glycerophosphate, and 2'-AMP as substrates. 1AWB;1IMA;1IMB;1IMC;1IMD;1IME;1IMF;2HHM;4AS4 X66922 395340 IMPA1 8 8q21.13-q21.3 IMPA1 HGNC:6050 true hsa:3612 HS05783-MONOMER NP_001138350.1:NM_001144878.1;NP_001138351.1:NM_001144879.1;NP_005527.1:NM_005536.3 Magnesium Homodimer 2020-06-12T23:06:52Z 2020-07-28T02:26:01Z 0 1 0 810 CDBP00809 Cytosol aminopeptidase P28838 AMPL_HUMAN true false Enzyme Homo_sapiens LAP3 519 Involved in aminopeptidase activity Presumably involved in the processing and regular turnover of intracellular proteins. Catalyzes the removal of unsubstituted N-terminal amino acids from various peptides. AF061738 4335941 LAP3 LAP3 HGNC:18449 true hsa:51056 NP_056991.2:NM_015907.2 zinc ions . One zinc ion is tightly bound and essential for enzyme activity, while the second metal coordination site can be occupied by zinc, magnesium or manganese to give enzymes of different activities Homohexamer 2020-06-12T23:06:52Z 2020-07-28T02:26:01Z 0 1 0 811 CDBP00810 Alpha-mannosidase 2 Q16706 MA2A1_HUMAN true false Enzyme Homo_sapiens MAN2A1 1144 131139.485 7.573 Involved in catalytic activity Catalyzes the first committed step in the biosynthesis of complex N-glycans. It controls conversion of high mannose to complex N-glycans; the final hydrolytic step in the N-glycan maturation pathway. NM_002372.2 51477714 MAN2A1 5 5q21-q22 MAN2A1 HGNC:6824 true hsa:4124 NP_002363.2:NM_002372.2 zinc ion Homodimer; disulfide-linked 2020-06-12T23:06:52Z 2020-07-28T02:26:01Z 0 1 0 812 CDBP00811 Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB O60476 MA1A2_HUMAN true false Enzyme Homo_sapiens MAN1A2 641 73002.93 7.605 Involved in mannosyl-oligosaccharide 1,2-alpha-mannosidase activity Involved in the maturation of Asn-linked oligosaccharides. Progressively trim alpha-1,2-linked mannose residues from Man(9)GlcNAc(2) to produce Man(5)GlcNAc(2). AF027156 MAN1A2 1 1p13 MAN1A2 HGNC:6822 true hsa:10905 NP_006690.1:NM_006699.3 Highest levels of expression in placenta and testis. Calcium 2020-06-12T23:06:52Z 2020-07-28T02:26:01Z 0 1 0 813 CDBP00812 Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase Q9UKM7 MA1B1_HUMAN true false Enzyme Homo_sapiens MAN1B1 699 79579.18 7.719 Involved in mannosyl-oligosaccharide 1,2-alpha-mannosidase activity Involved in glycoprotein quality control targeting of misfolded glycoproteins for degradation. It primarily trims a single alpha-1,2-linked mannose residue from Man(9)GlcNAc(2) to produce Man(8)GlcNAc(2), but at high enzyme concentrations, as found in the ER quality control compartment (ERQC), it further trims the carbohydrates to Man(5-6)GlcNAc(2). 1FMI;1FO2;1FO3;1X9D NM_016219.3 218749883 MAN1B1 9 9q34 MAN1B1 HGNC:6823 true hsa:11253 NP_057303.2:NM_016219.4 Widely expressed. Calcium 2020-06-12T23:06:52Z 2020-07-28T02:26:02Z 0 1 0 814 CDBP00813 Mannosyl-oligosaccharide 1,2-alpha-mannosidase IA P33908 MA1A1_HUMAN true false Enzyme Homo_sapiens MAN1A1 653 72967.88 6.471 Involved in mannosyl-oligosaccharide 1,2-alpha-mannosidase activity Involved in the maturation of Asn-linked oligosaccharides. Progressively trim alpha-1,2-linked mannose residues from Man(9)GlcNAc(2) to produce Man(5)GlcNAc(2). AL022722 56202626 MAN1A1 6 6q22 MAN1A1 HGNC:6821 true hsa:4121 NP_005898.2:NM_005907.3 Calcium 2020-06-12T23:06:52Z 2020-07-28T02:26:02Z 0 1 0 815 CDBP00814 Beta-hexosaminidase subunit beta P07686 HEXB_HUMAN true false Enzyme Homo_sapiens HEXB 556 Involved in beta-N-acetylhexosaminidase activity Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. 1NOU;1NOW;1NP0;1O7A;1QBD;2GJX;2GK1;3LMY AF378118 21309953 HEXB HEXB HGNC:4879 true hsa:3074 HS00629-MONOMER NP_000512.1:NM_000521.3 There are 3 forms of beta-hexosaminidase: hexosaminidase A is a trimer composed of one subunit alpha, one subunit beta chain A and one subunit beta chain B; hexosaminidase B is a tetramer of two subunit beta chains A and two subunit beta chains B; hexosaminidase S is a homodimer of two alpha subunits. The two beta chains are derived from the cleavage of the beta subunit 2020-06-12T23:06:52Z 2020-07-28T02:26:02Z 0 0 1 816 CDBP00815 Beta-hexosaminidase subunit alpha P06865 HEXA_HUMAN true false Enzyme Homo_sapiens HEXA 529 Involved in beta-N-acetylhexosaminidase activity Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. The form B is active against certain oligosaccharides. The form S has no measurable activity. 1QBC;2GJX;2GK1 AK222502 62896563 HEXA HEXA HGNC:4878 true hsa:3073 ENSG00000140495-MONOMER NP_000511.2:NM_000520.4 There are 3 forms of beta-hexosaminidase: hexosaminidase A is a trimer composed of one subunit alpha, one subunit beta chain A and one subunit beta chain B; hexosaminidase B is a tetramer of two subunit beta chains A and two subunit beta chains B; hexosaminidase S is a homodimer of two alpha subunits. The two beta chains are derived from the cleavage of the beta subunit 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 817 CDBP00816 Beta-1,4 N-acetylgalactosaminyltransferase 1 Q00973 B4GN1_HUMAN true false Enzyme Homo_sapiens B4GALNT1 533 58881.78 8.69 Involved in transferase activity, transferring hexosyl groups Involved in the biosynthesis of gangliosides GM2, GD2 and GA2. M83651 431033 B4GALNT1 12 12q13.3 B4GALNT1 HGNC:4117 true hsa:2583 NP_001469.1:NM_001478.3 Homodimer; disulfide-linked 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 818 CDBP00817 Lactosylceramide 4-alpha-galactosyltransferase Q9NPC4 A4GAT_HUMAN true false Enzyme Homo_sapiens A4GALT 353 40498.78 8.96 Involved in galactosyltransferase activity Necessary for the biosynthesis of the Pk antigen of blood histogroup P. Catalyzes the transfer of galactose to lactosylceramide and galactosylceramide. Necessary for the synthesis of the receptor for bacterial verotoxins. AB037883 A4GALT 22 22q13.2 A4GALT HGNC:18149 true hsa:53947 NP_059132.1:NM_017436.4 Ubiquitous. Highly expressed in kidney, heart, spleen, liver, testis and placenta. 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 819 CDBP00818 Tissue alpha-L-fucosidase P04066 FUCO_HUMAN true false Enzyme Homo_sapiens FUCA1 466 53688.475 6.848 Involved in alpha-L-fucosidase activity Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. AB074175 76879796 FUCA1 1 1p34 FUCA1 HGNC:4006 true hsa:2517 NP_000138.2:NM_000147.4 Homotetramer 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 820 CDBP00819 Plasma alpha-L-fucosidase Q9BTY2 FUCO2_HUMAN true false Enzyme Homo_sapiens FUCA2 467 54066.31 6.247 Involved in alpha-L-fucosidase activity Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. AK075458 22761559 FUCA2 6 6q24 FUCA2 HGNC:4008 true hsa:2519 NP_114409.2:NM_032020.4 Homotetramer 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 821 CDBP00820 Ectonucleoside triphosphate diphosphohydrolase 4 Q9Y227 ENTP4_HUMAN true false Enzyme Homo_sapiens ENTPD4 616 69419.915 8.288 Involved in hydrolase activity Hydrolyzes preferentially nucleoside 5'-diphosphates, nucleoside 5'-triphosphates are hydrolyzed only to a minor extent. The order of activity with different substrates is UDP >> GDP = CDP = TDP, AMP, ADP, ATP and UMP are not substrates. Preferred substrates for isoform 2 are CTP, UDP, CDP, GTP and GDP, while isoform 1 utilizes UTP and TTP. NM_004901.3 4758662 ENTPD4 8 8p21.3 ENTPD4 HGNC:14573 true hsa:9583 NP_001122402.1:NM_001128930.2;NP_004892.1:NM_004901.4 Ubiquitous. Highest expression in testis and lowest in bladder. Calcium;Isoform 1 requires calcium and to a lesser extent, magnesium. Isoform 2 is equally dependent on calcium and magnesium 2020-06-12T23:06:52Z 2020-07-28T02:26:02Z 0 0 0 822 CDBP00821 Ectonucleoside triphosphate diphosphohydrolase 6 O75354 ENTP6_HUMAN true false Enzyme Homo_sapiens ENTPD6 484 51159.26 8.854 Involved in hydrolase activity Might support glycosylation reactions in the Golgi apparatus and, when released from cells, might catalyze the hydrolysis of extracellular nucleotides. Hydrolyzes preferentially nucleoside 5'-diphosphates, nucleoside 5'-triphosphates are hydrolyzed only to a minor extent, there is no hydrolysis of nucleoside 5'-monophosphates. The order of activity with different substrates is GDP > IDP >> UDP = CDP >> ADP (By similarity). AF039916 3335098 ENTPD6 20 20p11.21 ENTPD6 HGNC:3368 true hsa:955 NP_001107561.1:NM_001114089.1;NP_001238.2:NM_001247.2 Expressed in most tissues, but predominantly in heart. Calcium;Magnesium 2020-06-12T23:06:52Z 2020-07-28T02:26:02Z 0 0 0 823 CDBP00822 Ectonucleoside triphosphate diphosphohydrolase 5 O75356 ENTP5_HUMAN true false Enzyme Homo_sapiens ENTPD5 428 47516.985 6.333 Involved in hydrolase activity Uridine diphosphatase (UDPase) that promotes protein N-glycosylation and ATP level regulation. UDP hydrolysis promotes protein N-glycosylation and folding in the endoplasmic reticulum, as well as elevated ATP consumption in the cytosol via an ATP hydrolysis cycle. Together with CMPK1 and AK1, constitutes an ATP hydrolysis cycle that converts ATP to AMP and results in a compensatory increase in aerobic glycolysis. Also hydrolyzes GDP and IDP but not any other nucleoside di-, mono- or triphosphates, nor thiamine pyrophosphate. Plays a key role in the AKT1-PTEN signaling pathway by promoting glycolysis in proliferating cells in response to phosphoinositide 3-kinase (PI3K) signaling (By similarity). AF039918 3335102 ENTPD5 14 14q24 ENTPD5 HGNC:3367 true hsa:957 NP_001240.1:NM_001249.2 Expressed in adult liver, kidney, prostate, testis and colon. Much weaker expression in other tissues. Calcium;Magnesium 2020-06-12T23:06:52Z 2020-07-28T02:26:02Z 0 0 0 824 CDBP00823 Adenylosuccinate synthetase isozyme 2 P30520 PURA2_HUMAN true false Enzyme Homo_sapiens ADSS 456 50097.075 6.554 Involved in adenylosuccinate synthase activity Plays an important role in the de novo pathway and in the salvage pathway of purine nucleotide biosynthesis. Catalyzes the first committed step in the biosynthesis of AMP from IMP. 2V40 NM_001126 34577063 ADSS 1 1q44 ADSS HGNC:292 true hsa:159 NP_001117.2:NM_001126.3 magnesium ion Homodimer 2020-06-12T23:06:52Z 2020-07-28T02:26:02Z 0 1 0 825 CDBP00824 Inosine-5'-monophosphate dehydrogenase 2 P12268 IMDH2_HUMAN true false Enzyme Homo_sapiens IMPDH2 514 55804.495 6.902 Involved in catalytic activity Catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed and rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumors. 1B3O;1NF7;1NFB BC006124 13543973 IMPDH2 3 3p21.2 IMPDH2 HGNC:6053 true hsa:3615 HS11242-MONOMER NP_000875.2:NM_000884.2 IMP type I is the main species in normal leukocytes and type II predominates over type I in the tumor. Potassium Homotetramer 2020-06-12T23:06:52Z 2020-07-28T02:26:03Z 0 1 0 826 CDBP00825 Bifunctional purine biosynthesis protein PURH P31939 PUR9_HUMAN true false Enzyme Homo_sapiens ATIC 592 64615.255 6.72 Involved in IMP cyclohydrolase activity Bifunctional enzyme that catalyzes 2 steps in purine biosynthesis. 1P4R;1PKX;1PL0 AB062403 21104440 ATIC 2 2q35 ATIC HGNC:794 true hsa:471 NP_004035.2:NM_004044.6 Homodimer 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 827 CDBP00826 Inosine-5'-monophosphate dehydrogenase 1 P20839 IMDH1_HUMAN true false Enzyme Homo_sapiens IMPDH1 514 63252.24 6.845 Involved in catalytic activity Catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed and rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumors. 1JCN NM_001142573.1 217035146 IMPDH1 7 7q31.3-q32 IMPDH1 HGNC:6052 true hsa:3614 HS02896-MONOMER NP_001096075.1:NM_001102605.1;NP_001136045.1:NM_001142573.1;NP_001136046.1:NM_001142574.1;NP_001136047.1:NM_001142575.1;NP_899066.1:NM_183243.2 IMP type I is the main species in normal leukocytes and type II predominates over type I in the tumor. Potassium Homotetramer 2020-06-12T23:06:52Z 2020-07-28T02:26:03Z 0 1 0 828 CDBP00827 Adenylosuccinate synthetase isozyme 1 Q8N142 PURA1_HUMAN true false Enzyme Homo_sapiens ADSSL1 457 50208.16 8.589 Involved in adenylosuccinate synthase activity Component of the purine nucleotide cycle (PNC), which interconverts IMP and AMP to regulate the nucleotide levels in various tissues, and which contributes to glycolysis and ammoniagenesis. Catalyzes the first committed step in the biosynthesis of AMP from IMP (By similarity). 2GJO AY037159 ADSSL1 14 14q32.33 ADSSL1 HGNC:20093 true hsa:122622 NP_689541.1:NM_152328.3;NP_954634.1:NM_199165.1 Predominantly expressed in skeletal muscle and heart, as well as in several hematopoietic cell lines and solid tumors. magnesium ion Homodimer 2020-06-12T23:06:52Z 2020-07-28T02:26:03Z 0 1 0 829 CDBP00828 Histidine decarboxylase P19113 DCHS_HUMAN true false Enzyme Homo_sapiens HDC 662 74139.825 8.0 Involved in carboxy-lyase activity Catalyzes the biosynthesis of histamine from histidine. 4E1O X54297 32109 HDC 15 15q21-q22 HDC HGNC:4855 true hsa:3067 NP_002103.2:NM_002112.3 Pyridoxal phosphate Homodimer 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 830 CDBP00829 Serine palmitoyltransferase 1 O15269 SPTC1_HUMAN true false Enzyme Homo_sapiens SPTLC1 473 52743.41 6.009 Involved in transferase activity, transferring nitrogenous groups Serine palmitoyltransferase (SPT). The heterodimer formed with SPTLC2 or SPTLC3 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. The SPTLC1-SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to use a broader range of acyl-CoAs, without apparent preference. Y08685 2564247 SPTLC1 9 9q22.2 SPTLC1 HGNC:11277 true hsa:10558 NP_006406.1:NM_006415.2;NP_847894.1:NM_178324.1 Widely expressed. Not detected in small intestine. Pyridoxal phosphate Heterodimer with SPTLC2 or SPTLC3. Component of the serine palmitoyltransferase (SPT) complex, composed of SPTLC1, either SPTLC2 or SPTLC3, and either SPTSSA or SPTSSB. Interacts with SPTSSA and SPTSSB; the interaction is direct. Interacts with ORMDL3 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 831 CDBP00830 Phosphoserine phosphatase P78330 SERB_HUMAN true false Enzyme Homo_sapiens PSPH 225 25007.49 5.694 Involved in catalytic activity Catalyzes the last step in the biosynthesis of serine from carbohydrates. The reaction mechanism proceeds via the formation of a phosphoryl-enzyme intermediates. 1L8L;1L8O;1NNL Y10275 1890331 PSPH 7 7p11.2 PSPH HGNC:9577 true hsa:5723 NP_004568.2:NM_004577.3 magnesium ion Homodimer 2020-06-12T23:06:52Z 2020-07-28T02:26:03Z 0 0 0 832 CDBP00831 Serine palmitoyltransferase 2 O15270 SPTC2_HUMAN true false Enzyme Homo_sapiens SPTLC2 562 62923.765 7.785 Involved in transferase activity Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC2-SPTSSB complex displays a preference for C18-CoA substrate. Y08686 2564249 SPTLC2 14 14q24.3 SPTLC2 HGNC:11278 true hsa:9517 NP_004854.1:NM_004863.3 Widely expressed. Pyridoxal phosphate Heterodimer with SPTLC1. Component of the serine palmitoyltransferase (SPT) complex, composed of LCB1/SPTLC1, LCB2 (SPTLC2 or SPTLC3) and ssPT (SPTSSA and SPTSSB) 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 833 CDBP00832 Succinyl-CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial P53597 SUCA_HUMAN true false Enzyme Homo_sapiens SUCLG1 346 36249.505 8.789 Involved in catalytic activity Catalyzes the ATP- or GTP-dependent ligation of succinate and CoA to form succinyl-CoA. The nature of the beta subunit determines the nucleotide specificity (By similarity). NM_003849.3 109452591 SUCLG1 2 2p11.2 SUCLG1 HGNC:11449 true hsa:8802 HS08877-MONOMER NP_003840.2:NM_003849.3 Heterodimer of an alpha and a beta subunit 2020-06-12T23:06:52Z 2020-07-28T02:26:03Z 0 0 0 834 CDBP00833 Phosphoenolpyruvate carboxykinase [GTP], mitochondrial Q16822 PCKGM_HUMAN true false Enzyme Homo_sapiens PCK2 640 47563.34 8.128 Involved in phosphoenolpyruvate carboxykinase activity Catalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle (By similarity). NM_004563.2 66346721 PCK2 14 14q11.2 PCK2 HGNC:8725 true hsa:5106 NP_001018083.1:NM_001018073.1;NP_004554.2:NM_004563.2 Manganese;manganese ion Monomer 2020-06-12T23:06:52Z 2020-07-28T02:26:03Z 0 1 0 835 CDBP00834 Succinyl-CoA ligase [GDP-forming] subunit beta, mitochondrial Q96I99 SUCB2_HUMAN true false Enzyme Homo_sapiens SUCLG2 432 47731.605 6.426 Involved in catalytic activity Catalyzes the GTP-dependent ligation of succinate and CoA to form succinyl-CoA (By similarity). NM_003848.3 157779135 SUCLG2 3 3p14.1 SUCLG2 HGNC:11450 true hsa:8801 HS10493-MONOMER NP_001171070.1:NM_001177599.1;NP_003839.2:NM_003848.3 Mainly expressed in liver, kidney, heart, spleen and skeletal muscle. Also found in intestine and colon, and in low amounts in lung, brain, prostate, testis and ovary. Heterodimer of an alpha and a beta subunit 2020-06-12T23:06:52Z 2020-07-28T02:26:03Z 0 0 0 836 CDBP00835 Phosphoenolpyruvate carboxykinase, cytosolic [GTP] P35558 PCKGC_HUMAN true false Enzyme Homo_sapiens PCK1 622 69193.975 6.144 Involved in phosphoenolpyruvate carboxykinase activity Catalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle. 1KHB;1KHE;1KHF;1KHG;1M51;1NHX;2GMV L05144 189945 PCK1 20 20q13.31 PCK1 HGNC:8724 true hsa:5105 NP_002582.3:NM_002591.3 Major sites of expression are liver, kidney and adipocytes. manganese ion Monomer 2020-06-12T23:06:52Z 2020-07-28T02:26:03Z 0 0 0 837 CDBP00836 L-lactate dehydrogenase A-like 6A Q6ZMR3 LDH6A_HUMAN true false Enzyme Homo_sapiens LDHAL6A 332 36507.015 6.989 Involved in oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor Displays an lactate dehydrogenase activity. Significantly increases the transcriptional activity of JUN, when overexpressed. AY581313 LDHAL6A 11 11p15.1 LDHAL6A HGNC:28335 true hsa:160287 NP_001137543.1:NM_001144071.1;NP_659409.2:NM_144972.4 Testis-specific. 2020-06-12T23:06:52Z 2020-07-28T02:26:03Z 0 0 0 838 CDBP00837 Multifunctional protein ADE2 P22234 PUR6_HUMAN true false Enzyme Homo_sapiens PAICS 425 47078.82 7.225 Involved in phosphoribosylaminoimidazole carboxylase activity 2H31 X53793 28384 PAICS 4 4q12 PAICS HGNC:8587 true hsa:10606 NP_001072992.1:NM_001079524.1;NP_001072993.1:NM_001079525.1;NP_006443.1:NM_006452.3 Homooctamer 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 839 CDBP00838 N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase P20933 ASPG_HUMAN true false Enzyme Homo_sapiens AGA 346 37207.955 6.281 Involved in hydrolase activity Cleaves the GlcNAc-Asn bond which joins oligosaccharides to the peptide of asparagine-linked glycoproteins. 1APY;1APZ X55762 34760 AGA 4 4q34.3 AGA HGNC:318 true hsa:175 NP_000018.2:NM_000027.3;NP_001165459.1:NM_001171988.1 Heterotetramer of two alpha and two beta chains arranged as a dimer of alpha/beta heterodimers 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 840 CDBP00839 Isocitrate dehydrogenase [NADP], mitochondrial P48735 IDHP_HUMAN true false Enzyme Homo_sapiens IDH2 452 50908.915 8.695 Involved in magnesium ion binding Plays a role in intermediary metabolism and energy production. It may tightly associate or interact with the pyruvate dehydrogenase complex. X69433 872121 IDH2 15 15q26.1 IDH2 HGNC:5383 true hsa:3418 HS00021-MONOMER NP_002159.2:NM_002168.2 magnesium or manganese ion Homodimer 2020-06-12T23:06:52Z 2020-07-28T02:26:04Z 0 1 0 841 CDBP00840 Isocitrate dehydrogenase [NAD] subunit beta, mitochondrial O43837 IDH3B_HUMAN true false Enzyme Homo_sapiens IDH3B 385 42183.39 8.456 Involved in magnesium ion binding NM_006899.2 28178821 IDH3B 20 20p13 IDH3B HGNC:5385 true hsa:3420 NP_008830.2:NM_006899.3;NP_777280.1:NM_174855.2 magnesium or manganese ion Heterooligomer of subunits alpha, beta, and gamma in the apparent ratio of 2:1:1 2020-06-12T23:06:52Z 2020-07-28T02:26:04Z 0 1 0 842 CDBP00841 Isocitrate dehydrogenase [NADP] cytoplasmic O75874 IDHC_HUMAN true false Enzyme Homo_sapiens IDH1 414 46659.005 7.0 Involved in magnesium ion binding 1T09;1T0L;3INM;3MAP;3MAR;3MAS AF020038 3641398 IDH1 2 2q33.3 IDH1 HGNC:5382 true hsa:3417 HS06502-MONOMER NP_005887.2:NM_005896.2 magnesium or manganese ion Homodimer 2020-06-12T23:06:52Z 2020-07-28T02:26:04Z 0 1 0 843 CDBP00842 Isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial P50213 IDH3A_HUMAN true false Enzyme Homo_sapiens IDH3A 366 39591.365 6.924 Involved in magnesium ion binding U07681 IDH3A 15 15q25.1-q25.2 IDH3A HGNC:5384 true hsa:3419 NP_005521.1:NM_005530.2 magnesium or manganese ion Heterooligomer of subunits alpha, beta, and gamma in the apparent ratio of 2:1:1 2020-06-12T23:06:52Z 2020-07-28T02:26:04Z 0 1 0 844 CDBP00843 Isocitrate dehydrogenase [NAD] subunit gamma, mitochondrial P51553 IDH3G_HUMAN true false Enzyme Homo_sapiens IDH3G 393 42793.97 8.501 Involved in magnesium ion binding Z68907 1167849 IDH3G X Xq28 IDH3G HGNC:5386 true hsa:3421 NP_004126.1:NM_004135.3;NP_777358.1:NM_174869.2 magnesium or manganese ion Heterooligomer of subunits alpha, beta, and gamma in the apparent ratio of 2:1:1 2020-06-12T23:06:52Z 2020-07-28T02:26:04Z 0 1 0 845 CDBP00844 Tankyrase-2 Q9H2K2 TNKS2_HUMAN true false Enzyme Homo_sapiens TNKS2 1166 126916.895 7.2 Involved in NAD+ ADP-ribosyltransferase activity Poly-ADP-ribosyltransferase involved in various processes such as Wnt signaling pathway, telomere length and vesicle trafficking. Acts as an activator of the Wnt signaling pathway by mediating poly-ADP-ribosylation of AXIN1 and AXIN2, 2 key components of the beta-catenin destruction complex: poly-ADP-ribosylated target proteins are recognized by RNF146, which mediates their ubiquitination and subsequent degradation. Also mediates poly-ADP-ribosylation of BLZF1 and CASC3, followed by recruitment of RNF146 and subsequent ubiquitination. Mediates poly-ADP-ribosylation of TERF1, thereby contributing to the regulation of telomere length. May also regulate vesicle trafficking and modulate the subcellular distribution of SLC2A4/GLUT4-vesicles. 2Y0I;3KR7;3KR8;3MHJ;3MHK;3P0N;3P0P;3P0Q;3TWQ;3TWR;3TWS;3TWT;3TWU;3TWV;3TWW;3TWX;3U9H;3U9Y;3UA9;4AVU;4AVW;4HKI;4HKK;4HKN;4HL5;4HLF;4HLG;4HLH;4HLK;4HLM;4HMH AF264912 12005976 TNKS2 10 10q23.3 TNKS2 HGNC:15677 true hsa:80351 NP_079511.1:NM_025235.3 Highly expressed in placenta, skeletal muscle, liver, brain, kidney, heart, thymus, spinal cord, lung, peripheral blood leukocytes, pancreas, lymph nodes, spleen, prostate, testis, ovary, small intestine, colon, mammary gland, breast and breast carcinoma, and in common-type meningioma. Highly expressed in fetal liver, heart and brain. Oligomerizes and associates with TNKS. Interacts with the cytoplasmic domain of LNPEP/Otase in SLC2A4/GLUT4-vesicles. Binds to the N-terminus of Grb14 and TRF1 with its ankyrin repeat region. Interacts with HIF1AN. Interacts with RNF146; this interaction leads to ubiquitination and proteasomal degradation 2020-06-12T23:06:52Z 2020-07-28T02:26:04Z 1 1 0 846 CDBP00845 dTDP-D-glucose 4,6-dehydratase O95455 TGDS_HUMAN true false Enzyme Homo_sapiens TGDS 350 40213.665 6.601 Involved in catalytic activity AF048686 5737699 TGDS 13 13q32.1 TGDS HGNC:20324 true hsa:23483 NP_055120.1:NM_014305.2 NAD 2020-06-12T23:06:52Z 2020-07-28T02:26:04Z 0 0 0 847 CDBP00846 NAD-dependent protein deacetylase sirtuin-6 Q8N6T7 SIRT6_HUMAN true false Enzyme Homo_sapiens SIRT6 355 36064.295 9.743 Involved in zinc ion binding NAD-dependent protein deacetylase. Has deacetylase activity towards histone H3K9Ac and H3K56Ac. Modulates acetylation of histone H3 in telomeric chromatin during the S-phase of the cell cycle. Deacetylates histone H3K9Ac at NF-kappa-B target promoters and may down-regulate the expression of a subset of NF-kappa-B target genes. Acts as a corepressor of the transcription factor HIF1A to control the expression of multiple glycolytic genes to regulate glucose homeostasis. Required for genomic stability. Regulates the production of TNF protein. Has a role in the regulation of life span (By similarity). Deacetylation of nucleosomes interferes with RELA binding to target DNA. May be required for the association of WRN with telomeres during S-phase and for normal telomere maintenance. Required for genomic stability. Required for normal IGF1 serum levels and normal glucose homeostasis. Modulates cellular senescence and apoptosis. On DNA damage, promotes DNA end resection via deacetylation of RBBP8. Has very weak deacetylase activity and can bind NAD(+) in the absence of acetylated substrate. 3K35;3PKI;3PKJ AF233396 7243749 SIRT6 19 19p13.3 SIRT6 HGNC:14934 true hsa:51548 NP_001180214.1:NM_001193285.1;NP_057623.2:NM_016539.2 zinc ion Interacts with RELA. Interacts with RBBP8; the interaction deacetylates RBBP8 2020-06-12T23:06:52Z 2020-07-28T02:26:04Z 0 1 1 848 CDBP00847 UDP-glucose 4-epimerase Q14376 GALE_HUMAN true false Enzyme Homo_sapiens GALE 348 38281.435 6.721 Involved in catalytic activity Catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. 1EK5;1EK6;1HZJ;1I3K;1I3L;1I3M;1I3N L41668 1119217 GALE 1 1p36-p35 GALE HGNC:4116 true hsa:2582 HS04117-MONOMER NP_000394.2:NM_000403.3;NP_001008217.1:NM_001008216.1;NP_001121093.1:NM_001127621.1 NAD Homodimer 2020-06-12T23:06:52Z 2020-07-28T02:26:04Z 0 0 0 849 CDBP00848 Poly [ADP-ribose] polymerase 3 Q9Y6F1 PARP3_HUMAN true false Enzyme Homo_sapiens PARP3 533 60845.685 6.742 Involved in NAD+ ADP-ribosyltransferase activity Involved in the base excision repair (BER) pathway, by catalyzing the poly(ADP-ribosyl)ation of a limited number of acceptor proteins involved in chromatin architecture and in DNA metabolism. This modification follows DNA damages and appears as an obligatory step in a detection/signaling pathway leading to the reparation of DNA strand breaks. May link the DNA damage surveillance network to the mitotic fidelity checkpoint. Negatively influences the G1/S cell cycle progression without interfering with centrosome duplication. Binds DNA. May be involved in the regulation of PRC2 and PRC3 complex-dependent gene silencing. 2EOC;3C49;3C4H;3CE0;3FHB NM_005485.4 158634482 PARP3 3 3p21.31-p21.1 PARP3 HGNC:273 true hsa:10039 NP_001003931.2:NM_001003931.2;NP_005476.3:NM_005485.4 Widely expressed; the highest levels are in the kidney, skeletal muscle, liver, heart and spleen; also detected in pancreas, lung, placenta, brain, leukocytes, colon, small intestine, ovary, testis, prostate and thymus. Interacts with PRKDC and PARP1. Interacts with XRCC5; the interaction is dependent on nucleic acids. Interacts with XRCC6; the interaction is dependent on nucleic acids. Interacts with EZH2, HDAC1, HDAC2, SUZ12, YY1, LRIG3 and LIG4 2020-06-12T23:06:52Z 2020-07-28T02:26:04Z 0 0 0 850 CDBP00849 Ecto-ADP-ribosyltransferase 3 Q13508 NAR3_HUMAN true false Enzyme Homo_sapiens ART3 389 43922.97 6.062 Involved in NAD(P)+-protein-arginine ADP-ribosyltransferase activity BC008397 14250010 ART3 4 4p15.1-p14 ART3 HGNC:725 true hsa:419 NP_001123488.1:NM_001130016.2;NP_001123489.1:NM_001130017.2;NP_001170.2:NM_001179.5 Testis specific. 2020-06-12T23:06:52Z 2020-07-28T02:26:05Z 0 0 0 851 CDBP00850 UDP-glucose 6-dehydrogenase O60701 UGDH_HUMAN true false Enzyme Homo_sapiens UGDH 494 47602.08 5.919 Involved in oxidoreductase activity Involved in the biosynthesis of glycosaminoglycans; hyaluronan, chondroitin sulfate, and heparan sulfate. 2Q3E;2QG4;3ITK;3KHU;3PRJ;3PTZ;3TDK;3TF5;4EDF AF061016 3127127 UGDH 4 4p15.1 UGDH HGNC:12525 true hsa:7358 NP_001171629.1:NM_001184700.1;NP_001171630.1:NM_001184701.1;NP_003350.1:NM_003359.3 Widely expressed. Homohexamer 2020-06-12T23:06:52Z 2020-07-28T02:26:05Z 0 0 0 852 CDBP00851 Ecto-ADP-ribosyltransferase 5 Q96L15 NAR5_HUMAN true false Enzyme Homo_sapiens ART5 291 32053.48 8.266 Involved in NAD(P)+-protein-arginine ADP-ribosyltransferase activity NM_001079536.1 118640870 ART5 11 11p15.4 ART5 HGNC:24049 true hsa:116969 NP_001073004.1:NM_001079536.1;NP_443750.2:NM_053017.3 2020-06-12T23:06:52Z 2020-07-28T02:26:05Z 0 0 0 853 CDBP00852 GPI-linked NAD(P)(+)--arginine ADP-ribosyltransferase 1 P52961 NAR1_HUMAN true false Enzyme Homo_sapiens ART1 327 36334.32 8.276 Involved in NAD(P)+-protein-arginine ADP-ribosyltransferase activity Has ADP-ribosyltransferase activity toward GLP1R. NM_004314.2 158634472 ART1 11 11p15 ART1 HGNC:723 true hsa:417 NP_004305.2:NM_004314.2 2020-06-12T23:06:52Z 2020-07-28T02:26:05Z 0 0 0 854 CDBP00853 3-hydroxy-3-methylglutaryl-coenzyme A reductase P04035 HMDH_HUMAN true false Enzyme Homo_sapiens HMGCR 888 97475.155 6.735 Involved in hydroxymethylglutaryl-CoA reductase (NADPH) activity Transmembrane glycoprotein that is the rate-limiting enzyme in cholesterol biosynthesis as well as in the biosynthesis of nonsterol isoprenoids that are essential for normal cell function including ubiquinone and geranylgeranyl proteins. 1DQ8;1DQ9;1DQA;1HW8;1HW9;1HWI;1HWJ;1HWK;1HWL;2Q1L;2Q6B;2Q6C;2R4F;3BGL;3CCT;3CCW;3CCZ;3CD0;3CD5;3CD7;3CDA;3CDB M11058 306865 HMGCR 5 5q13.3-q14 HMGCR HGNC:5006 true hsa:3156 HS03652-MONOMER NP_000850.1:NM_000859.2;NP_001124468.1:NM_001130996.1 Homodimer. Interacts (via its SSD) with INSIG1; the interaction, accelerated by sterols, leads to the recruitment of HMGCR to AMFR/gp78 for its ubiquitination by the sterol-mediated ERAD pathway 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 855 CDBP00854 NAD(P) transhydrogenase, mitochondrial Q13423 NNTM_HUMAN true false Enzyme Homo_sapiens NNT 1086 113894.595 8.094 Involved in oxidoreductase activity The transhydrogenation between NADH and NADP is coupled to respiration and ATP hydrolysis and functions as a proton pump across the membrane. May play a role in reactive oxygen species (ROS) detoxification in the adrenal gland. 1DJL;1PT9;1U31 AL831822 21732286 NNT 5 5p12 NNT HGNC:7863 true hsa:23530 NP_036475.3:NM_012343.3;NP_892022.2:NM_182977.2 Widely expressed with expression most readily detectable in adrenal, heart, kidney, thyroid and adipose tissues. Homodimer 2020-06-12T23:06:52Z 2020-07-28T02:26:05Z 0 0 0 856 CDBP00855 Tankyrase-1 O95271 TNKS1_HUMAN true false Enzyme Homo_sapiens TNKS 1327 142038.18 7.05 Involved in NAD+ ADP-ribosyltransferase activity Poly-ADP-ribosyltransferase involved in various processes such as Wnt signaling pathway, telomere length and vesicle trafficking. Acts as an activator of the Wnt signaling pathway by mediating poly-ADP-ribosylation (PARsylation) of AXIN1 and AXIN2, 2 key components of the beta-catenin destruction complex: poly-ADP-ribosylated target proteins are recognized by RNF146, which mediates their ubiquitination and subsequent degradation. Also mediates PARsylation of BLZF1 and CASC3, followed by recruitment of RNF146 and subsequent ubiquitination. Mediates PARsylation of TERF1, thereby contributing to the regulation of telomere length. Involved in centrosome maturation during prometaphase by mediating PARsylation of HEPACAM2/MIKI. May also regulate vesicle trafficking and modulate the subcellular distribution of SLC2A4/GLUT4-vesicles. May be involved in spindle pole assembly through PARsylation of NUMA1. 2RF5;3UDD;3UH2;3UH4;4DVI NM_003747.2 87239981 TNKS 8 8p23.1 TNKS HGNC:11941 true hsa:8658 NP_003738.2:NM_003747.2 Ubiquitous; highest levels in testis. Oligomerizes and associates with TNKS2. Interacts with the cytoplasmic domain of LNPEP/Otase in SLC2A4/GLUT4-vesicles. Binds to the N-terminus of telomeric TERF1 via the ANK repeats. Found in a complex with POT1; TERF1 and TINF2. Interacts with AXIN1, AXIN2, BLZF1 and CASC3 2020-06-12T23:06:52Z 2020-07-28T02:26:05Z 1 1 1 857 CDBP00856 Poly [ADP-ribose] polymerase 1 P09874 PARP1_HUMAN true false Enzyme Homo_sapiens PARP1 1014 113082.945 8.885 Involved in DNA binding Involved in the base excision repair (BER) pathway, by catalyzing the poly(ADP-ribosyl)ation of a limited number of acceptor proteins involved in chromatin architecture and in DNA metabolism. This modification follows DNA damages and appears as an obligatory step in a detection/signaling pathway leading to the reparation of DNA strand breaks. Mediates the poly(ADP-ribosyl)ation of APLF and CHFR. Positively regulates the transcription of MTUS1 and negatively regulates the transcription of MTUS2/TIP150. With EEF1A1 and TXK, forms a complex that acts as a T-helper 1 (Th1) cell-specific transcription factor and binds the promoter of IFN-gamma to directly regulate its transcription, and is thus involved importantly in Th1 cytokine production. 1UK0;1UK1;1WOK;2COK;2CR9;2CS2;2DMJ;2JVN;2L30;2L31;2RCW;2RD6;2RIQ;3GJW;3GN7;3L3L;3L3M;3OD8;3ODA;3ODC;3ODE;4AV1;4DQY AF524947 21693601 PARP1 1 1q41-q42 PARP1 HGNC:270 true hsa:142 NP_001609.2:NM_001618.3 Component of a base excision repair (BER) complex, containing at least XRCC1, PARP2, POLB and LRIG3. Homo- and heterodimer with PARP2. Interacts with PARP3, APTX and SRY. The SWAP complex consists of NPM1, NCL, PARP1 and SWAP70. Interacts with TIAM2 . Interacts (when poly-ADP-ribosylated) with CHD1L. Interacts with the DNA polymerase alpha catalytic subunit POLA1; this interaction functions as part of the control of replication fork progression. Interacts with EEF1A1, RNF4 and TXK. Interacts with RNF146. Interacts with ZNF423 2020-06-12T23:06:52Z 2020-07-28T02:26:05Z 1 1 1 858 CDBP00857 Urocanate hydratase Q96N76 HUTU_HUMAN true false Enzyme Homo_sapiens UROC1 676 80911.275 7.011 Involved in urocanate hydratase activity AK055862 UROC1 3 3q21.3 UROC1 HGNC:26444 true hsa:131669 NP_001159446.1:NM_001165974.1;NP_653240.1:NM_144639.2 NAD 2020-06-12T23:06:52Z 2020-07-28T02:26:05Z 0 0 0 859 CDBP00858 ADP-ribosyl cyclase 2 Q10588 BST1_HUMAN true false Enzyme Homo_sapiens BST1 318 35723.545 7.794 Involved in NAD+ nucleosidase activity Synthesizes cyclic ADP-ribose, a second messenger that elicits calcium release from intracellular stores. May be involved in pre-B-cell growth. 1ISF;1ISG;1ISH;1ISI;1ISJ;1ISM AC114744 63991381 BST1 4 4p15 BST1 HGNC:1118 true hsa:683 NP_004325.2:NM_004334.2 Widely expressed. Homodimer 2020-06-12T23:06:52Z 2020-07-28T02:26:05Z 0 0 0 860 CDBP00859 Poly [ADP-ribose] polymerase 2 Q9UGN5 PARP2_HUMAN true false Enzyme Homo_sapiens PARP2 583 64804.695 8.676 Involved in NAD+ ADP-ribosyltransferase activity Involved in the base excision repair (BER) pathway, by catalyzing the poly(ADP-ribosyl)ation of a limited number of acceptor proteins involved in chromatin architecture and in DNA metabolism. This modification follows DNA damages and appears as an obligatory step in a detection/signaling pathway leading to the reparation of DNA strand breaks. 3KCZ;3KJD NM_005484.3 110825961 PARP2 14 14q11.2-q12 PARP2 HGNC:272 true hsa:10038 NP_001036083.1:NM_001042618.1;NP_005475.2:NM_005484.3 Widely expressed, mainly in actively dividing tissues. The highest levels are in the brain, heart, pancreas, skeletal muscle and testis; also detected in kidney, liver, lung, placenta, ovary and spleen; levels are low in leukocytes, colon, small intestine, prostate and thymus. Component of a base excision repair (BER) complex, containing at least XRCC1, PARP1, POLB and LRIG3. Homo- and heterodimer with PARP1 2020-06-12T23:06:52Z 2020-07-28T02:26:05Z 0 0 0 861 CDBP00860 NAD kinase O95544 NADK_HUMAN true false Enzyme Homo_sapiens NADK 446 49227.815 6.472 Involved in NAD+ kinase activity 3PFN NM_001198993.1 312222779 NADK 1 1p36.33 NADK HGNC:29831 true hsa:65220 NP_001185922.1:NM_001198993.1;NP_001185923.1:NM_001198994.1;NP_001185924.1:NM_001198995.1;NP_075394.3:NM_023018.4 Widely expressed but not detected in skeletal muscle. Divalent metal cations 2020-06-12T23:06:52Z 2020-07-28T02:26:06Z 0 1 0 862 CDBP00861 ADP-ribosyl cyclase 1 P28907 CD38_HUMAN true false Enzyme Homo_sapiens CD38 300 34328.145 7.665 Involved in NAD+ nucleosidase activity Synthesizes cyclic ADP-ribose, a second messenger for glucose-induced insulin secretion. Also has cADPr hydrolase activity. Also moonlights as a receptor in cells of the immune system. 1YH3;1ZVM;2EF1;2HCT;2I65;2I66;2I67;2O3Q;2O3R;2O3S;2O3T;2O3U;2PGJ;2PGL;3DZF;3DZG;3DZH;3DZI;3DZJ;3DZK;3F6Y;3I9M;3I9N;3OFS;3RAJ;3ROK;3ROM;3ROP;3ROQ;3U4H;3U4I BC007964 14044085 CD38 4 4p15 CD38 HGNC:1667 true hsa:952 HS00103-MONOMER NP_001766.2:NM_001775.2 Expressed at high levels in pancreas, liver, kidney, brain, testis, ovary, placenta, malignant lymphoma and neuroblastoma. 2020-06-12T23:06:52Z 2020-07-28T02:26:06Z 1 0 1 863 CDBP00862 Ecto-ADP-ribosyltransferase 4 Q93070 NAR4_HUMAN true false Enzyme Homo_sapiens ART4 314 35878.285 9.135 Involved in NAD(P)+-protein-arginine ADP-ribosyltransferase activity AF290204 10444285 ART4 12 12p13-p12 ART4 HGNC:726 true hsa:420 NP_066549.2:NM_021071.2 Expressed in spleen and T-cells. 2020-06-12T23:06:52Z 2020-07-28T02:26:06Z 0 0 0 864 CDBP00863 Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial P13995 MTDC_HUMAN true false Enzyme Homo_sapiens MTHFD2 350 37894.775 8.73 Involved in catalytic activity 1ZN4 NM_006636.3 94721354 MTHFD2 2 2p13.1 MTHFD2 HGNC:7434 true hsa:10797 NP_006627.2:NM_006636.3 Magnesium Homodimer 2020-06-12T23:06:52Z 2020-07-28T02:26:06Z 0 0 0 865 CDBP00864 Adenylate cyclase type 2 Q08462 ADCY2_HUMAN true false Enzyme Homo_sapiens ADCY2 1091 123602.25 8.091 Involved in phosphorus-oxygen lyase activity This is a membrane-bound, calmodulin-insensitive adenylyl cyclase. NM_020546.2 115387102 ADCY2 5 5p15.3 ADCY2 HGNC:233 true hsa:108 NP_065433.2:NM_020546.2 Expressed in brain. magnesium ions Interacts with RAF1 2020-06-12T23:06:52Z 2020-07-28T02:26:06Z 1 1 0 866 CDBP00865 D-3-phosphoglycerate dehydrogenase O43175 SERA_HUMAN true false Enzyme Homo_sapiens PHGDH 533 56650.03 6.715 Involved in phosphoglycerate dehydrogenase activity 2G76 AF006043 2674062 PHGDH 1 1p12 PHGDH HGNC:8923 true hsa:26227 NP_006614.2:NM_006623.3 Homotetramer 2020-06-12T23:06:52Z 2020-07-28T02:26:06Z 0 0 0 867 CDBP00866 C-1-tetrahydrofolate synthase, cytoplasmic P11586 C1TC_HUMAN true false Enzyme Homo_sapiens MTHFD1 935 101530.36 7.296 Involved in formate-tetrahydrofolate ligase activity 1A4I;1DIA;1DIB;1DIG AK312361 189065440 MTHFD1 14 14q24 MTHFD1 HGNC:7432 true hsa:4522 HS02138-MONOMER NP_005947.3:NM_005956.3 Ubiquitous. Homodimer 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 868 CDBP00867 Poly [ADP-ribose] polymerase 4 Q9UKK3 PARP4_HUMAN true false Enzyme Homo_sapiens PARP4 1724 192592.915 5.653 Involved in NAD+ ADP-ribosyltransferase activity AF057160 3694920 PARP4 13 13q11 PARP4 HGNC:271 true hsa:143 NP_006428.2:NM_006437.3 Widely expressed; the highest levels are in the kidney; also detected in heart, placenta, lung, liver, skeletal muscle, spleen, leukocytes and pancreas. Component of the vault ribonucleoprotein particle, at least composed of MVP, PARP4 and one or more vault RNAs (vRNAs). Binds to MVP. Associates with TEP1 2020-06-12T23:06:52Z 2020-07-28T02:26:06Z 0 0 0 869 CDBP00868 GDP-L-fucose synthase Q13630 FCL_HUMAN true false Enzyme Homo_sapiens TSTA3 321 35892.46 6.6 Involved in catalytic activity Two step NADP-dependent conversion of GDP-4-dehydro-6-deoxy-D-mannose to GDP-fucose, involving an epimerase and a reductase reaction. 4B8W U58766 TSTA3 8 8q24.3 TSTA3 HGNC:12390 true hsa:7264 NP_003304.1:NM_003313.3 Homodimer 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 870 CDBP00869 Nitric oxide synthase, inducible P35228 NOS2_HUMAN true true Enzyme Homo_sapiens NOS2 1153 131116.3 7.954 Involved in oxidoreductase activity Produces nitric oxide (NO) which is a messenger molecule with diverse functions throughout the body. In macrophages, NO mediates tumoricidal and bactericidal actions. Also has nitrosylase activity and mediates cysteine S-nitrosylation of cytoplasmic target proteins such COX2. 1NSI;2LL6;2NSI;3E7G;3EJ8;3HR4;4NOS L24553 24041029 NOS2 17 17q11.2-q12 NOS2 HGNC:7873 true hsa:4843 HS00205-MONOMER NP_000616.3:NM_000625.4 Expressed in the liver, retina, bone cells and airway epithelial cells of the lung. Not expressed in the platelets. Heme group;FAD;FMN;Tetrahydrobiopterin (BH4). May stabilize the dimeric form of the enzyme Homodimer. Binds SLC9A3R1 2020-06-12T23:06:52Z 2020-07-28T02:26:06Z 0 1 0 871 CDBP00870 Ornithine carbamoyltransferase, mitochondrial P00480 OTC_HUMAN true false Enzyme Homo_sapiens OTC 354 39934.775 8.633 Involved in carboxyl- or carbamoyltransferase activity 1C9Y;1EP9;1FVO;1OTH K02100 189407 OTC X Xp21.1 OTC HGNC:8512 true hsa:5009 HS00516-MONOMER NP_000522.3:NM_000531.5 Mainly expressed in liver and intestinal mucosa. Homotrimer 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 872 CDBP00871 Nitric oxide synthase, brain P29475 NOS1_HUMAN true false Enzyme Homo_sapiens NOS1 1434 160969.095 7.417 Involved in oxidoreductase activity Produces nitric oxide (NO) which is a messenger molecule with diverse functions throughout the body. In the brain and peripheral nervous system, NO displays many properties of a neurotransmitter. Probably has nitrosylase activity and mediates cysteine S-nitrosylation of cytoplasmic target proteins such SRR. U17327 642526 NOS1 12 12q24.2-q24.31 NOS1 HGNC:7872 true hsa:4842 HS01647-MONOMER NP_000611.1:NM_000620.4;NP_001191142.1:NM_001204213.1;NP_001191143.1:NM_001204214.1;NP_001191147.1:NM_001204218.1 Isoform 1 is ubiquitously expressed: detected in skeletal muscle and brain, also in testis, lung and kidney, and at low levels in heart, adrenal gland and retina. Not detected in the platelets. Isoform 3 is expressed only in testis. Isoform 4 is detected in testis, skeletal muscle, lung, and kidney, at low levels in the brain, but not in the heart and adrenal gland. Heme group;FAD;FMN;Tetrahydrobiopterin (BH4). May stabilize the dimeric form of the enzyme Homodimer. Interacts with DLG4; the interaction possibly being prevented by the association between NOS1 and CAPON. Forms a ternary complex with CAPON and RASD1. Forms a ternary complex with CAPON and SYN1. Interacts with ZDHHC23. Interacts with NOSIP; which may impair its synaptic location . Interacts with HTR4. Interacts with VAC14 (By similarity). Interacts with SLC6A4 (By similarity) 2020-06-12T23:06:52Z 2020-07-28T02:26:07Z 1 1 1 873 CDBP00872 Nitric oxide synthase, endothelial P29474 NOS3_HUMAN true false Enzyme Homo_sapiens NOS3 1203 133273.59 7.262 Involved in oxidoreductase activity Produces nitric oxide (NO) which is implicated in vascular smooth muscle relaxation through a cGMP-mediated signal transduction pathway. NO mediates vascular endothelial growth factor (VEGF)-induced angiogenesis in coronary vessels and promotes blood clotting through the activation of platelets. Isoform eNOS13C: Lacks eNOS activity, dominant-negative form that may down-regulate eNOS activity by forming heterodimers with isoform 1. 1M9J;1M9K;1M9M;1M9Q;1M9R;2LL7;3EAH;3NOS M93718 NOS3 7 7q36 NOS3 HGNC:7876 true hsa:4846 HS09149-MONOMER NP_000594.2:NM_000603.4;NP_001153581.1:NM_001160109.1;NP_001153582.1:NM_001160110.1;NP_001153583.1:NM_001160111.1 Platelets, placenta, liver and kidney. Heme group;FAD;FMN;Tetrahydrobiopterin (BH4). May stabilize the dimeric form of the enzyme Homodimer. Interacts with NOSIP and NOSTRIN 2020-06-12T23:06:52Z 2020-07-28T02:26:07Z 0 1 0 874 CDBP00873 Guanylate kinase Q16774 KGUA_HUMAN true false Enzyme Homo_sapiens GUK1 197 21725.41 6.556 Involved in guanylate kinase activity Essential for recycling GMP and indirectly, cGMP. L76200 1196436 GUK1 1 1q32-q41 GUK1 HGNC:4693 true hsa:2987 NP_000849.1:NM_000858.5;NP_001152862.1:NM_001159390.1;NP_001152863.1:NM_001159391.1;NP_001229768.1:NM_001242839.1 Monomer 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 875 CDBP00874 Geranylgeranyl pyrophosphate synthase O95749 GGPPS_HUMAN true false Enzyme Homo_sapiens GGPS1 300 34870.625 6.14 Involved in isoprenoid biosynthetic process Catalyzes the trans-addition of the three molecules of IPP onto DMAPP to form geranylgeranyl pyrophosphate, an important precursor of carotenoids and geranylated proteins. 2Q80 AB017971 GGPS1 1 1q43 GGPS1 HGNC:4249 true hsa:9453 HS07859-MONOMER NP_001032354.1:NM_001037277.1 Abundantly expressed in testis. Found in other tissues to a lower extent. magnesium ions Homohexamer; trimer of homodimers 2020-06-12T23:06:52Z 2020-07-28T02:26:07Z 0 1 0 876 CDBP00875 Farnesyl pyrophosphate synthase P14324 FPPS_HUMAN true false Enzyme Homo_sapiens FDPS 419 48275.03 6.153 Involved in isoprenoid biosynthetic process Key enzyme in isoprenoid biosynthesis which catalyzes the formation of farnesyl diphosphate (FPP), a precursor for several classes of essential metabolites including sterols, dolichols, carotenoids, and ubiquinones. FPP also serves as substrate for protein farnesylation and geranylgeranylation. Catalyzes the sequential condensation of isopentenyl pyrophosphate with the allylic pyrophosphates, dimethylallyl pyrophosphate, and then with the resultant geranylpyrophosphate to the ultimate product farnesyl pyrophosphate. 1YQ7;1YV5;1ZW5;2F7M;2F89;2F8C;2F8Z;2F92;2F94;2F9K;2OPM;2OPN;2QIS;2RAH;2VF6;3B7L;3CP6;3N1V;3N1W;3N3L;3N45;3N46;3N49;3N5H;3N5J;3N6K;3RYE;3S4J;4DEM;4H5C;4H5D;4H5E AK291084 158255604 FDPS 1 1q22 FDPS HGNC:3631 true hsa:2224 ENSG00000160752-MONOMER NP_001129293.1:NM_001135821.1;NP_001129294.1:NM_001135822.1;NP_001229753.1:NM_001242824.1;NP_001229754.1:NM_001242825.1;NP_001995.1:NM_002004.3 magnesium ions Homodimer. Interacts with RSAD2. Interacts with HTLV-1 protein p13(II) 2020-06-12T23:06:52Z 2020-07-28T02:26:07Z 0 1 0 877 CDBP00876 Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 O94766 B3GA3_HUMAN true false Enzyme Homo_sapiens B3GAT3 335 37121.52 8.272 Involved in galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity Glycosaminoglycans biosynthesis. Involved in forming the linkage tetrasaccharide present in heparan sulfate and chondroitin sulfate. Transfers a glucuronic acid moiety from the uridine diphosphate-glucuronic acid (UDP-GlcUA) to the common linkage region trisaccharide Gal-beta-1,3-Gal-beta-1,4-Xyl covalently bound to a Ser residue at the glycosaminylglycan attachment site of proteoglycans. Can also play a role in the biosynthesis of l2/HNK-1 carbohydrate epitope on glycoproteins. Shows strict specificity for Gal-beta-1,3-Gal-beta-1,4-Xyl, exhibiting negligible incorporation into other galactoside substrates including Galbeta1-3Gal beta1-O-benzyl, Galbeta1-4GlcNAc and Galbeta1-4Glc. 1FGG;1KWS;3CU0 AB009598 3892640 B3GAT3 11 11q12.3 B3GAT3 HGNC:923 true hsa:26229 HS07624-MONOMER NP_036332.2:NM_012200.3 Ubiquitous (but weakly expressed in all tissues examined). Manganese Homodimer; disulfide-linked 2020-06-12T23:06:52Z 2020-07-28T02:26:07Z 0 0 0 878 CDBP00877 Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2 Q9NPZ5 B3GA2_HUMAN true false Enzyme Homo_sapiens B3GAT2 323 36918.42 10.629 Involved in galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on both glycolipids and glycoproteins (By similarity). 2D0J NM_080742.2 18152775 B3GAT2 6 6q13 B3GAT2 HGNC:922 true hsa:135152 HS03557-MONOMER NP_542780.1:NM_080742.2 Expressed in the trachea, retina, spinal cord, hippocampus and other brain regions, and, at lower levels, in testis and ovary. Manganese Homodimer 2020-06-12T23:06:52Z 2020-07-28T02:26:07Z 0 1 0 879 CDBP00878 Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 Q9P2W7 B3GA1_HUMAN true false Enzyme Homo_sapiens B3GAT1 334 38255.675 9.617 Involved in galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on glycoproteins. Can also play a role in glycosaminoglycan biosynthesis. Substrates include asialo-orosomucoid (ASOR), asialo-fetuin, and asialo-neural cell adhesion molecule. Requires sphingomyelin for activity: stearoyl-sphingomyelin was the most effective, followed by palmitoyl-sphingomyelin and lignoceroyl-sphingomyelin. Activity was demonstrated only for sphingomyelin with a saturated fatty acid and not for that with an unsaturated fatty acid, regardless of the length of the acyl group (By similarity). 1V82;1V83;1V84 AB029396 8051678 B3GAT1 11 11q25 B3GAT1 HGNC:921 true hsa:27087 HS03272-MONOMER NP_061114.2:NM_018644.3;NP_473366.1:NM_054025.2 Mainly expressed in the brain. Manganese Homodimer 2020-06-12T23:06:52Z 2020-07-28T02:26:07Z 0 1 0 880 CDBP00879 Cysteine sulfinic acid decarboxylase Q9Y600 CSAD_HUMAN true false Enzyme Homo_sapiens CSAD 493 55022.79 6.478 Involved in carboxy-lyase activity 2JIS AF116547 4894560 CSAD 12 12q13.11-q14.3 CSAD HGNC:18966 true hsa:51380 NP_001231634.1:NM_001244705.1;NP_057073.4:NM_015989.4 Pyridoxal phosphate Homodimer 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 881 CDBP00880 Cytosolic 10-formyltetrahydrofolate dehydrogenase O75891 FTHFD_HUMAN true true Enzyme Homo_sapiens ALDH1L1 902 99752.535 5.934 Involved in formyltetrahydrofolate dehydrogenase activity 2BW0;2CFI;2CQ8 AF052732 3560541 ALDH1L1 3 3q21.3 ALDH1L1 HGNC:3978 true hsa:10840 NP_001257293.1:NM_001270364.1;NP_036322.2:NM_012190.3 Highly expressed in liver, pancreas and kidney. 2020-06-12T23:06:52Z 2020-07-28T02:26:08Z 0 0 0 882 CDBP00881 GTP cyclohydrolase 1 P30793 GCH1_HUMAN true false Enzyme Homo_sapiens GCH1 250 27902.855 8.556 Involved in GTP cyclohydrolase I activity Positively regulates nitric oxide synthesis in umbilical vein endothelial cells (HUVECs). May be involved in dopamine synthesis. May modify pain sensitivity and persistence. Isoform GCH-1 is the functional enzyme, the potential function of the enzymatically inactive isoforms remains unknown. 1FB1 BC025415 19343964 GCH1 14 14q22.1-q22.2 GCH1 HGNC:4193 true hsa:2643 HS05586-MONOMER NP_000152.1:NM_000161.2;NP_001019195.1:NM_001024024.1;NP_001019241.1:NM_001024070.1;NP_001019242.1:NM_001024071.1 In epidermis, expressed predominantly in basal undifferentiated keratinocytes and in some but not all melanocytes (at protein level). Toroid-shaped homodecamer, composed of a dimer of pentamers. The inactive isoforms also form decamers and may possibly be incorporated into GCH1 heterodecamers, decreasing enzyme stability and activity. Interacts with AHSA1 and GCHFR/GFRP 2020-06-12T23:06:52Z 2020-07-28T02:26:08Z 0 0 0 883 CDBP00882 Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial P36957 ODO2_HUMAN true false Enzyme Homo_sapiens DLST 453 48754.87 8.955 Involved in acyltransferase activity The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). It contains multiple copies of 3 enzymatic components: 2-oxoglutarate dehydrogenase (E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3). AC006530 4809336 DLST 14 14q24.3 DLST HGNC:2911 true hsa:1743 HS04324-MONOMER NP_001924.2:NM_001933.4 lipoyl cofactor covalently Forms a 24-polypeptide structural core with octahedral symmetry 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 884 CDBP00883 Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q Q9BRB3 PIGQ_HUMAN true false Enzyme Homo_sapiens PIGQ 760 65343.25 9.044 Involved in phosphatidylinositol N-acetylglucosaminyltransferase activity Part of the complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis. NM_148920.1 22538453 PIGQ 16 16p13.3 PIGQ HGNC:14135 true hsa:9091 NP_004195.2:NM_004204.3;NP_683721.1:NM_148920.2 Associates with PIGA, PIGC, PIGH, PIGP and DPM2. The latter is not essential for activity 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 885 CDBP00884 Phosphatidylinositol N-acetylglucosaminyltransferase subunit A P37287 PIGA_HUMAN true false Enzyme Homo_sapiens PIGA 484 54126.065 8.332 Involved in biosynthetic process Necessary for the synthesis of N-acetylglucosaminyl-phosphatidylinositol, the very early intermediate in GPI-anchor biosynthesis. BC038236 23398601 PIGA X Xp22.1 PIGA HGNC:8957 true hsa:5277 NP_002632.1:NM_002641.3;NP_065206.3:NM_020473.3 Associates with PIGC, PIGH, PIGP, PIGQ and DPM2. The latter is not essential for activity. Interacts directly with PIGY 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 886 CDBP00885 Phosphatidylinositol N-acetylglucosaminyltransferase subunit H Q14442 PIGH_HUMAN true false Enzyme Homo_sapiens PIGH 188 21080.415 6.724 Involved in phosphatidylinositol N-acetylglucosaminyltr Part of the complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis. AK314108 189054281 PIGH 14 14q24.1 PIGH HGNC:8964 true hsa:5283 NP_004560.1:NM_004569.3 Associates with PIGA, PIGC, PIGP, PIGQ and DPM2. The latter is not essential for activity 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 887 CDBP00886 Phosphatidylinositol N-acetylglucosaminyltransferase subunit P P57054 PIGP_HUMAN true false Enzyme Homo_sapiens PIGP 158 18089.055 8.852 Involved in phosphatidylinositol N-acetylglucosaminyltr Part of the complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis. NM_153681.2 24497597 PIGP 21 21q22.2 PIGP HGNC:3046 true hsa:51227 NP_710148.1:NM_153681.2;NP_710149.1:NM_153682.2 Ubiquitous. Associates with PIGA, PIGC, PIGH, PIGQ and DPM2. The latter is not essential for activity 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 888 CDBP00887 Phosphatidylinositol N-acetylglucosaminyltransferase subunit C Q92535 PIGC_HUMAN true false Enzyme Homo_sapiens PIGC 297 33582.18 8.41 Involved in phosphatidylinositol N-acetylglucosaminyltransferase activity Part of the complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis. AB000360 2547042 PIGC 1 1q23-q25 PIGC HGNC:8960 true hsa:5279 NP_002633.1:NM_002642.3;NP_714969.1:NM_153747.1 Associates with PIGA, PIGH, PIGP, PIGQ and DPM2. The latter is not essential for activity 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 889 CDBP00888 Putative deoxyribose-phosphate aldolase Q9Y315 DEOC_HUMAN true false Enzyme Homo_sapiens DERA 318 35230.395 8.946 Involved in catalytic activity Catalyzes a reversible aldol reaction between acetaldehyde and D-glyceraldehyde 3-phosphate to generate 2-deoxy-D-ribose 5-phosphate (By similarity). NM_015954.2 116063554 DERA 12 12p12.3 DERA HGNC:24269 true hsa:51071 NP_057038.2:NM_015954.2 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 890 CDBP00889 Protein O-mannosyl-transferase 1 Q9Y6A1 POMT1_HUMAN true false Enzyme Homo_sapiens POMT1 747 82566.18 8.509 Involved in mannosyltransferase activity Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient. AF095136 5257116 POMT1 9 9q34.1 POMT1 HGNC:9202 true hsa:10585 NP_001070833.1:NM_001077365.1;NP_001070834.1:NM_001077366.1;NP_001129585.1:NM_001136113.1;NP_001129586.1:NM_001136114.1;NP_009102.3:NM_007171.3 Widely expressed. Highly expressed in testis, heart and pancreas. Detected at lower levels in kidney, skeletal muscle, brain, placenta, lung and liver. Magnesium. Manganese and calcium ions suppress enzyme activity Interacts with POMT2 (Probable) 2020-06-12T23:06:52Z 2020-07-28T02:26:08Z 0 1 0 891 CDBP00890 Protein O-mannosyl-transferase 2 Q9UKY4 POMT2_HUMAN true false Enzyme Homo_sapiens POMT2 750 84213.155 9.152 Involved in mannosyltransferase activity Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient. NM_013382.5 32455271 POMT2 14 14q24 POMT2 HGNC:19743 true hsa:29954 NP_037514.2:NM_013382.5 Highly expressed in testis; detected at low levels in most tissues. Magnesium. Manganese and calcium ions suppress enzyme activity Interacts with POMT1 (Probable) 2020-06-12T23:06:52Z 2020-07-28T02:26:08Z 0 1 0 892 CDBP00891 Cysteine dioxygenase type 1 Q16878 CDO1_HUMAN true false Enzyme Homo_sapiens CDO1 200 22971.745 6.591 Involved in iron ion binding Initiates several important metabolic pathways related to pyruvate and several sulfurate compounds including sulfate, hypotaurine and taurine. Critical regulator of cellular cysteine concentrations. Has an important role in maintaining the hepatic concentation of intracellular free cysteine within a proper narrow range. 2IC1 Z31357 467561 CDO1 5 5q23.2 CDO1 HGNC:1795 true hsa:1036 NP_001792.2:NM_001801.2 Highly expressed in liver and placenta. Low expression in heart, brain and pancreas. Also detected in hepatoblastoma Hep-G2 cells. iron ion . Zinc to a much lesser extent Monomer 2020-06-12T23:06:52Z 2020-07-28T02:26:08Z 0 1 0 893 CDBP00892 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase Q15125 EBP_HUMAN true true Enzyme Homo_sapiens EBP 230 26352.615 7.902 Involved in cholestenol delta-isomerase activity Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers. NM_006579.2 5729810 EBP X Xp11.23-p11.22 EBP HGNC:3133 true hsa:10682 ENSG00000147155-MONOMER NP_006570.1:NM_006579.2 2020-06-12T23:06:52Z 2020-07-28T02:26:08Z 1 0 0 894 CDBP00893 DNA polymerase beta P06746 DPOLB_HUMAN true false Enzyme Homo_sapiens POLB 335 38177.34 8.947 Involved in DNA binding Repair polymerase that plays a key role in base-excision repair. Has 5'-deoxyribose-5-phosphate lyase (dRP lyase) activity that removes the 5' sugar phosphate and also acts as a DNA polymerase that adds one nucleotide to the 3' end of the arising single-nucleotide gap. Conducts 'gap-filling' DNA synthesis in a stepwise distributive fashion rather than in a processive fashion as for other DNA polymerases. 1BPX;1BPY;1BPZ;1MQ2;1MQ3;1TV9;1TVA;1ZJM;1ZJN;1ZQA;1ZQB;1ZQC;1ZQD;1ZQE;1ZQF;1ZQG;1ZQH;1ZQI;1ZQJ;1ZQK;1ZQL;1ZQM;1ZQN;1ZQO;1ZQP;1ZQQ;1ZQR;1ZQS;1ZQT;2FMP;2FMQ;2FMS;2I9G;2ISO;2ISP;2P66;2PXI;3C2K;3C2L;3C2M;3GDX;3ISB;3ISC;3ISD;3JPN;3JPO;3JPP;3JPQ;3JPR;3JPS;3JPT;3LK9;3MBY;3OGU;3RH4;3RH5;3RH6;3RJE;3RJF;3RJG;3RJH;3RJI;3RJJ;3RJK;3TFR;3TFS;4DO9;4DOA;4DOB;4DOC;4F5N;4F5O;4F5P;4F5Q;4F5R;4GXI;4GXJ;4GXK;7ICE;7ICF;7ICG;7ICH;7ICI;7ICJ;7ICK;7ICL;7ICM;7ICN;7ICO;7ICP;7ICQ;7ICR;7ICS;7ICT;7ICU;7ICV;8ICA;8ICB;8ICC;8ICE;8ICF;8ICG;8ICH;8ICI;8ICJ;8ICK;8ICL;8ICM;8ICN;8ICO;8ICP;8ICQ;8ICR;8ICS;8ICT;8ICU;8ICV;8ICW;8ICX;8ICY;8ICZ;9ICA;9ICB;9ICC;9ICE;9ICF;9ICG;9ICH;9ICI;9ICJ;9ICK;9ICL;9ICM;9ICN;9ICO;9ICP;9ICQ;9ICR;9ICS;9ICT;9ICU;9ICV;9ICW;9ICX;9ICY L11607 292397 POLB 8 8p11.2 POLB HGNC:9174 true hsa:5423 NP_002681.1:NM_002690.2 magnesium ions Monomer. Interacts with APEX1, HUWE1/ARF-BP1, STUB1/CHIP and USP47 2020-06-12T23:06:52Z 2020-07-28T02:26:08Z 0 1 0 895 CDBP00894 DNA polymerase alpha catalytic subunit P09884 DPOLA_HUMAN true false Enzyme Homo_sapiens POLA1 1462 165911.405 5.848 Involved in nucleotide binding Plays an essential role in the initiation of DNA replication. During the S phase of the cell cycle, the DNA polymerase alpha complex (composed of a catalytic subunit POLA1/p180, a regulatory subunit POLA2/p70 and two primase subunits PRIM1/p49 and PRIM2/p58) is recruited to DNA at the replicative forks via direct interactions with MCM10 and WDHD1. The primase subunit of the polymerase alpha complex initiates DNA synthesis by oligomerising short RNA primers on both leading and lagging strands. These primers are initially extended by the polymerase alpha catalytic subunit and subsequently transferred to polymerase delta and polymerase epsilon for processive synthesis on the lagging and leading strand, respectively. The reason this transfer occurs is because the polymerase alpha has limited processivity and lacks intrinsic 3' exonuclease activity for proofreading error, and therefore is not well suited for replicating long complexes. 1K0P;1K18;1N5G X06745 35568 POLA1 X Xp22.1-p21.3 POLA1 HGNC:9173 true hsa:5422 NP_058633.2:NM_016937.3 4Fe-4S cluster The DNA polymerase alpha complex is composed of four subunits: the catalytic subunit POLA1, the regulatory subunit POLA2, and the small and the large primase subunits PRIM1 and PRIM2 respectively. Interacts with PARP1; this interaction functions as part of the control of replication fork progression. Interacts with MCM10 and WDHD1; these interactions recruit the polymerase alpha complex to the pre-replicative complex bound to DNA. Interacts with RPA1; this interaction stabilizes the replicative complex and reduces the misincorporation rate of DNA polymerase alpha by acting as a fidelity clamp. Interacts with SV40 Large T antigen; this interaction allows viral DNA replication. Interacts with herpes simplex virus 1 (HHV-1) replication origin-binding protein UL9 2020-06-12T23:06:52Z 2020-07-28T02:26:09Z 0 1 1 896 CDBP00895 DNA polymerase delta subunit 3 Q15054 DPOD3_HUMAN true false Enzyme Homo_sapiens POLD3 466 51400.0 9.96 Involved in protein binding Required for optimal DNA polymerase delta activity ["None"] ["None"] 1U76 AK316301 221045990 POLD3 Chromosome:1 11q14 POLD3 HGNC:20932 true 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 897 CDBP00896 DNA polymerase lambda Q9UGP5 DPOLL_HUMAN true false Enzyme Homo_sapiens POLL 575 63481.66 7.865 Involved in DNA binding Repair polymerase. Involved in base excision repair (BER) responsible for repair of lesions that give rise to abasic (AP) sites in DNA. Has both DNA polymerase and terminal transferase activities. Has a 5'-deoxyribose-5-phosphate lyase (dRP lyase) activity. 1NZP;1RZT;1XSL;1XSN;1XSP;2BCQ;2BCR;2BCS;2BCU;2BCV;2GWS;2JW5;2PFN;2PFO;2PFP;2PFQ;3C5F;3C5G;3HW8;3HWT;3HX0;3MDA;3MDC;3MGH;3MGI;3PML;3PMN;3PNC;3UPQ;3UQ0;3UQ2;4FO6 AF161019 6746387 POLL 10 10q23 POLL HGNC:9184 true hsa:27343 NP_001167555.1:NM_001174084.1;NP_001167556.1:NM_001174085.1;NP_037406.1:NM_013274.3 Expressed in a number of tissues. Abundant in testis. Manganese Binds PCNA 2020-06-12T23:06:52Z 2020-07-28T02:26:09Z 0 1 0 898 CDBP00897 DNA polymerase epsilon subunit 4 Q9NR33 DPOE4_HUMAN true false Enzyme Homo_sapiens POLE4 117 12208.63 4.914 Involved in sequence-specific DNA binding May play a role in allowing polymerase epsilon to carry out its replication and/or repair function. AC007400 62822482 POLE4 2 2p12 POLE4 HGNC:18755 true hsa:56655 NP_063949.2:NM_019896.2 Component of the epsilon DNA polymerase complex consisting of four subunits: POLE, POLE2, POLE3 and POLE4. Interaction with POLE3 is a prerequisite for further binding with POLE and POLE2 2020-06-12T23:06:52Z 2020-07-28T02:26:09Z 0 0 1 899 CDBP00898 DNA polymerase eta Q9Y253 POLH_HUMAN true false Enzyme Homo_sapiens POLH 713 78412.77 8.437 Involved in damaged DNA binding DNA polymerase specifically involved in DNA repair. Plays an important role in translesion synthesis, where the normal high fidelity DNA polymerases cannot proceed and DNA synthesis stalls. Plays an important role in the repair of UV-induced pyrimidine dimers. Depending on the context, it inserts the correct base, but causes frequent base transitions and transversions. May play a role in hypermutation at immunoglobulin genes. Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but does not have lyase activity. Targets POLI to replication foci. 2I5O;2LSK;3MR2;3MR3;3MR5;3MR6;3SI8;3TQ1;4DL2;4DL3;4DL4;4DL5;4DL6;4DL7;4ECQ;4ECR;4ECS;4ECT;4ECU;4ECV;4ECW;4ECX;4ECY;4ECZ;4ED0;4ED1;4ED2;4ED3;4ED6;4ED7;4ED8;4EEY AB024313 5138988 POLH 6 6p21.1 POLH HGNC:9181 true hsa:5429 NP_006493.1:NM_006502.2 Divalent metal cations. Prefers magnesium, but can also use manganese Interacts with REV1 . Interacts with monoubiquitinated PCNA, but not unmodified PCNA. Interacts with POLI 2020-06-12T23:06:52Z 2020-07-28T02:26:09Z 0 1 0 900 CDBP00899 DNA polymerase delta catalytic subunit P28340 DPOD1_HUMAN true false Enzyme Homo_sapiens POLD1 1107 123629.95 7.036 Involved in nucleotide binding Possesses two enzymatic activities: DNA synthesis (polymerase) and an exonucleolytic activity that degrades single stranded DNA in the 3'- to 5'-direction. Required with its accessory proteins (proliferating cell nuclear antigen (PCNA) and replication factor C (RFC) or activator 1) for leading strand synthesis. Also involved in completing Okazaki fragments initiated by the DNA polymerase alpha/primase complex. AY129569 21885469 POLD1 19 19q13.3 POLD1 HGNC:9175 true hsa:5424 NP_001243778.1:NM_001256849.1;NP_002682.2:NM_002691.3 4Fe-4S cluster Heterotetramer composed of subunits of 125 kDa, 50 kDa, 66 kDa and 12 kDa. The 125 kDa subunit contains the polymerase active site and most likely the active site for the 3'-5' exonuclease activity. Interacts with WRNIP1. Interacts with POLD4 and PCNA 2020-06-12T23:06:52Z 2020-07-28T02:26:09Z 0 1 1 901 CDBP00900 DNA polymerase zeta catalytic subunit O60673 DPOLZ_HUMAN true false Enzyme Homo_sapiens REV3L 3130 352772.565 8.464 Involved in nucleotide binding Interacts with MAD2L2 to form the error prone DNA polymerase zeta involved in translesion DNA synthesis. 3ABD;3ABE;3VU7 NM_002912.3 153792012 REV3L 6 6q21 REV3L HGNC:9968 true hsa:5980 NP_002903.3:NM_002912.3 Ubiquitously expressed. 4Fe-4S cluster Interacts with MAD2L2 2020-06-12T23:06:52Z 2020-07-28T02:26:09Z 0 1 0 902 CDBP00901 DNA polymerase epsilon catalytic subunit A Q07864 DPOE1_HUMAN true false Enzyme Homo_sapiens POLE 2286 261515.525 6.392 Involved in nucleotide binding Participates in DNA repair and in chromosomal DNA replication. NM_006231.2 62198237 POLE 12 12q24.3 POLE HGNC:9177 true hsa:5426 NP_006222.2:NM_006231.2 4Fe-4S cluster Catalytic and central component of the epsilon DNA polymerase complex consisting of four subunits: POLE, POLE2, POLE3 and POLE4. Interacts with RAD17 and TOPBP1 2020-06-12T23:06:52Z 2020-07-28T02:26:09Z 0 1 1 903 CDBP00902 DNA polymerase subunit alpha B Q14181 DPOA2_HUMAN true false Enzyme Homo_sapiens POLA2 598 65948.0 4.9 May play an essential role at the early stage of chromosomal DNA replication by coupling the polymerase alpha/primase complex to the cellular replication machinery ["None"] ["None"] L24559 439601 POLA2 Chromosome:11 11q13.1 POLA2 HGNC:30073 true 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 904 CDBP00903 DNA-directed DNA/RNA polymerase mu Q9NP87 DPOLM_HUMAN true false Enzyme Homo_sapiens POLM 494 54815.075 8.413 Involved in DNA binding Gap-filling polymerase involved in repair of DNA double-strand breaks by non-homologous end joining (NHEJ). Participates in immunoglobulin (Ig) light chain gene rearrangement in V(D)J recombination. 2DUN;2HTF AF176097 6715109 POLM 7 7p13 POLM HGNC:9185 true hsa:27434 NP_037416.1:NM_013284.2 Expressed in a number of tissues. Abundant in thymus. Magnesium 2020-06-12T23:06:52Z 2020-07-28T02:26:09Z 0 1 0 905 CDBP00904 DNA polymerase kappa Q9UBT6 POLK_HUMAN true false Enzyme Homo_sapiens POLK 870 98807.815 8.128 Involved in damaged DNA binding DNA polymerase specifically involved in DNA repair. Plays an important role in translesion synthesis, where the normal high-fidelity DNA polymerases cannot proceed and DNA synthesis stalls. Depending on the context, it inserts the correct base, but causes frequent base transitions, transversions and frameshifts. Lacks 3'-5' proofreading exonuclease activity. Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but does not have lyase activity. 1T94;2OH2;2W7O;2W7P;3IN5;3PZP AB027564 POLK 5 5q13 POLK HGNC:9183 true hsa:51426 NP_057302.1:NM_016218.2 Detected at low levels in testis, spleen, prostate and ovary. Detected at very low levels in kidney, colon, brain, heart, liver, lung, placenta, pancreas and peripheral blood leukocytes. Divalent metal cations. Prefers magnesium, but can also use manganese Interacts with REV1 . Interacts with PCNA 2020-06-12T23:06:52Z 2020-07-28T02:26:09Z 0 1 0 906 CDBP00905 DNA polymerase epsilon subunit 3 Q9NRF9 DPOE3_HUMAN true false Enzyme Homo_sapiens POLE3 147 16859.4 4.737 Involved in sequence-specific DNA binding Forms a complex with DNA polymerase epsilon subunit CHRAC1 and binds naked DNA, which is then incorporated into chromatin, aided by the nucleosome-remodeling activity of ISWI/SNF2H and ACF1. AF226077 8100806 POLE3 9 9q33 POLE3 HGNC:13546 true hsa:54107 NP_059139.3:NM_017443.4 Expressed in all tissues tested, including, heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Component of the epsilon DNA polymerase complex consisting of four subunits: POLE, POLE2, POLE3 and POLE4. Interaction with POLE4 is a prerequisite for further binding with POLE and POLE2. Interacts with CHRAC1. Together with CHRAC1, ACF1 and ISWI/SNF2H proteins, it forms the ISWI chromatin-remodeling complex, CHRAC 2020-06-12T23:06:52Z 2020-07-28T02:26:10Z 0 0 1 907 CDBP00906 DNA polymerase subunit gamma-1 P54098 DPOG1_HUMAN true false Enzyme Homo_sapiens POLG 1239 139561.06 6.905 Involved in DNA binding Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA. 3IKM U60325 POLG 15 15q25 POLG HGNC:9179 true hsa:5428 NP_001119603.1:NM_001126131.1;NP_002684.1:NM_002693.2 Magnesium Heterotrimer composed of a catalytic subunit and a homodimer of accessory subunits 2020-06-12T23:06:52Z 2020-07-28T02:26:10Z 0 0 0 908 CDBP00907 DNA polymerase iota Q9UNA4 POLI_HUMAN true false Enzyme Homo_sapiens POLI 715 83005.335 6.08 Involved in damaged DNA binding Error-prone DNA polymerase specifically involved in DNA repair. Plays an important role in translesion synthesis, where the normal high-fidelity DNA polymerases cannot proceed and DNA synthesis stalls. Favors Hoogsteen base-pairing in the active site. Inserts the correct base with high-fidelity opposite an adenosine template. Exhibits low fidelity and efficiency opposite a thymidine template, where it will preferentially insert guanosine. May play a role in hypermutation of immunogobulin genes. Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but may not have lyase activity. 1T3N;1ZET;2ALZ;2DPI;2DPJ;2FLL;2FLN;2FLP;2KHU;2KHW;2KTF;2L0F;2L0G;3EPG;3EPI;3G6V;3G6X;3G6Y;3GV5;3GV7;3GV8;3H40;3H4B;3H4D;3NGD;3OSN;3Q8P;3Q8Q;3Q8R;3Q8S;4EBC;4EBD;4EBE;4EYH;4EYI;4FS1;4FS2 AF140501 5739208 POLI 18 18q21.1 POLI HGNC:9182 true hsa:11201 NP_009126.2:NM_007195.2 Ubiquitous. Highly expressed in testis. Magnesium Interacts with REV1 . Interacts with POLH 2020-06-12T23:06:52Z 2020-07-28T02:26:10Z 0 1 0 909 CDBP00908 DNA polymerase epsilon subunit 2 P56282 DPOE2_HUMAN true false Enzyme Homo_sapiens POLE2 527 56417.05 6.128 Involved in DNA binding Participates in DNA repair and in chromosomal DNA replication. 2V6Z NM_002692.3 32189369 POLE2 14 14q21-q22 POLE2 HGNC:9178 true hsa:5427 NP_001184259.1:NM_001197330.1;NP_001184260.1:NM_001197331.1;NP_002683.2:NM_002692.3 Component of the epsilon DNA polymerase complex consisting of four subunits: POLE, POLE2, POLE3 and POLE4 2020-06-12T23:06:52Z 2020-07-28T02:26:10Z 0 0 1 910 CDBP00909 Succinyl-CoA ligase [ADP-forming] subunit beta, mitochondrial Q9P2R7 SUCB1_HUMAN true false Enzyme Homo_sapiens SUCLA2 463 50316.88 7.423 Involved in catalytic activity Catalyzes the ATP-dependent ligation of succinate and CoA to form succinyl-CoA (By similarity). AB035863 SUCLA2 13 13q12.2-q13.3 SUCLA2 HGNC:11448 true hsa:8803 ENSG00000136143-MONOMER NP_003841.1:NM_003850.2 Widely expressed. Not expressed in liver and lung. Heterodimer of an alpha and a beta subunit. Interacts with ALAS2 2020-06-12T23:06:52Z 2020-07-28T02:26:10Z 0 1 0 911 CDBP00910 Arachidonate 5-lipoxygenase P09917 LOX5_HUMAN true false Enzyme Homo_sapiens ALOX5 674 77982.595 5.775 Involved in metal ion binding Catalyzes the first step in leukotriene biosynthesis, and thereby plays a role in inflammatory processes. 2ABV;3O8Y;3V92;3V98;3V99 J03600 ALOX5 10 10q11.2 ALOX5 HGNC:435 true hsa:240 HS00336-MONOMER NP_000689.1:NM_000698.3;NP_001243082.1:NM_001256153.1 iron ion;calcium ions Interacts with ALOX5AP and LTC4S 2020-06-12T23:06:52Z 2020-07-28T02:26:10Z 0 1 0 912 CDBP00911 Arachidonate 15-lipoxygenase B O15296 LX15B_HUMAN true false Enzyme Homo_sapiens ALOX15B 676 72522.25 5.876 Involved in metal ion binding Converts arachidonic acid exclusively to 15S-hydroperoxyeicosatetraenoic acid, while linoleic acid is less well metabolized. AF468051 18643345 ALOX15B 17 17p13.1 ALOX15B HGNC:434 true hsa:247 NP_001034219.1:NM_001039130.1;NP_001034220.1:NM_001039131.1;NP_001132.2:NM_001141.2 Expressed in hair, prostate, lung and cornea. iron ion 2020-06-12T23:06:52Z 2020-07-28T02:26:10Z 0 1 0 913 CDBP00912 Arachidonate 12-lipoxygenase, 12S-type P18054 LOX12_HUMAN true false Enzyme Homo_sapiens ALOX12 663 75693.38 6.213 Involved in metal ion binding Oxygenase and 14,15-leukotriene A4 synthase activity. 2ABU;3D3L M35418 189774 ALOX12 17 17p13.1 ALOX12 HGNC:429 true hsa:239 NP_000688.2:NM_000697.2 iron ion 2020-06-12T23:06:52Z 2020-07-28T02:26:10Z 0 1 0 914 CDBP00913 Prostaglandin G/H synthase 2 P35354 PGH2_HUMAN true false Enzyme Homo_sapiens PTGS2 604 68995.625 7.383 Involved in peroxidase activity Mediates the formation of prostaglandins from arachidonate. May have a role as a major mediator of inflammation and/or a role for prostanoid signaling in activity-dependent plasticity. 1V0X AK292167 158257766 PTGS2 1 1q25.2-q25.3 PTGS2 HGNC:9605 true hsa:5743 NP_000954.1:NM_000963.2 heme B (iron-protoporphyrin IX) group Homodimer 2020-06-12T23:06:52Z 2020-07-28T02:26:10Z 0 1 0 915 CDBP00914 Prostaglandin G/H synthase 1 P23219 PGH1_HUMAN true false Enzyme Homo_sapiens PTGS1 599 68685.82 7.232 Involved in peroxidase activity May play an important role in regulating or promoting cell proliferation in some normal and neoplastically transformed cells. M59979 PTGS1 9 9q32-q33.3 PTGS1 HGNC:9604 true hsa:5742 NP_000953.2:NM_000962.3;NP_001258094.1:NM_001271165.1;NP_542158.1:NM_080591.2 heme B (iron-protoporphyrin IX) group Homodimer 2020-06-12T23:06:52Z 2020-07-28T02:26:11Z 1 1 0 916 CDBP00915 Arachidonate 15-lipoxygenase P16050 LOX15_HUMAN true false Enzyme Homo_sapiens ALOX15 662 74803.795 6.583 Involved in metal ion binding Converts arachidonic acid to 15S-hydroperoxyeicosatetraenoic acid. Also acts on C-12 of arachidonate as well as on linoleic acid. 2ABT M23892 ALOX15 17 17p13.3 ALOX15 HGNC:433 true hsa:246 NP_001131.3:NM_001140.3 iron ion 2020-06-12T23:06:52Z 2020-07-28T02:26:11Z 0 1 0 917 CDBP00916 Fructose-bisphosphate aldolase A P04075 ALDOA_HUMAN true false Enzyme Homo_sapiens ALDOA 364 39419.675 8.084 Involved in fructose-bisphosphate aldolase activity Plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding protein (By similarity). 1ALD;2ALD;4ALD M11560 178351 ALDOA 16 16p11.2 ALDOA HGNC:414 true hsa:226 HS07647-MONOMER NP_000025.1:NM_000034.3;NP_001121089.1:NM_001127617.2;NP_001230106.1:NM_001243177.1;NP_908930.1:NM_184041.2;NP_908932.1:NM_184043.2 Homotetramer. Interacts with SNX9 and WAS 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 918 CDBP00917 Fructose-bisphosphate aldolase C P09972 ALDOC_HUMAN true false Enzyme Homo_sapiens ALDOC 364 39455.505 6.866 Involved in fructose-bisphosphate aldolase activity 1XFB AF054987 ALDOC 17 17cen-q12 ALDOC HGNC:418 true hsa:230 HS03200-MONOMER NP_005156.1:NM_005165.2 Homotetramer. Interacts with ATP6V1E1. May interact with PLD2 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 919 CDBP00918 Fructose-bisphosphate aldolase B P05062 ALDOB_HUMAN true false Enzyme Homo_sapiens ALDOB 364 39472.715 7.867 Involved in fructose-bisphosphate aldolase activity 1QO5;1XDL;1XDM AL353621 55958631 ALDOB 9 9q21.3-q22.2 ALDOB HGNC:417 true hsa:229 HS06234-MONOMER NP_000026.2:NM_000035.3 Homotetramer 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 920 CDBP00919 Dolichyl-phosphate beta-glucosyltransferase Q9Y673 ALG5_HUMAN true false Enzyme Homo_sapiens ALG5 324 33524.965 9.443 Cell wall/membrane/envelope biogenesis AF102850 5281121 ALG5 13 13q13.3 ALG5 HGNC:20266 true hsa:29880 NP_001135836.1:NM_001142364.1;NP_037470.1:NM_013338.4 Expressed in pancreas, placenta, liver, heart, brain, kidney, skeletal muscle, and lung. 2020-06-12T23:06:52Z 2020-06-12T23:06:52Z 0 0 0 921 CDBP00920 Methylglutaconyl-CoA hydratase, mitochondrial Q13825 AUHM_HUMAN true false Enzyme Homo_sapiens AUH 339 35608.18 9.476 Involved in catalytic activity Catalyzes the conversion of 3-methylglutaconyl-CoA to 3-hydroxy-3-methylglutaryl-CoA. Has very low enoyl-CoA hydratase activity. Was originally identified as RNA-binding protein that binds in vitro to clustered 5'-AUUUA-3' motifs. 1HZD;2ZQQ;2ZQR X79888 780241 AUH 9 9q22.31 AUH HGNC:890 true hsa:549 HS07490-MONOMER NP_001689.1:NM_001698.2 Homohexamer 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 922 CDBP00921 Inositol-trisphosphate 3-kinase B P27987 IP3KB_HUMAN true false Enzyme Homo_sapiens ITPKB 946 102375.325 8.42 Involved in inositol trisphosphate 3-kinase activity AJ242780 14329672 ITPKB 1 1q42.13 ITPKB HGNC:6179 true hsa:3707 HS07103-MONOMER NP_002212.3:NM_002221.3 2020-06-12T23:06:53Z 2020-07-28T02:26:11Z 1 0 0 923 CDBP00922 Inositol-trisphosphate 3-kinase A P23677 IP3KA_HUMAN true false Enzyme Homo_sapiens ITPKA 461 51008.32 7.657 Involved in inositol trisphosphate 3-kinase activity 1W2C;1W2D;1W2F X54938 32105 ITPKA 15 15q15.1 ITPKA HGNC:6178 true hsa:3706 HS06405-MONOMER NP_002211.1:NM_002220.2 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 924 CDBP00923 Cytochrome b-c1 complex subunit 2, mitochondrial P22695 QCR2_HUMAN false false Metal Binding Homo_sapiens UQCRC2 453 48442.6 8.92 Involved in catalytic activity This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. The core protein 2 is required for the assembly of the complex ["None"] ["None"] AK094006 193787590 UQCRC2 Chromosome:1 16p12 UQCRC2 HGNC:12586 true 2020-06-12T23:06:53Z 2020-07-28T02:31:56Z 0 1 0 925 CDBP00924 Cytochrome b-c1 complex subunit 9 Q9UDW1 QCR9_HUMAN false true Transporter Homo_sapiens UQCR10 63 7308.4 9.97 Involved in ubiquinol-cytochrome-c reductase activity This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This subunit interacts with cytochrome c1 ["None"] ["None"] 1PPJ AB028598 12081913 UQCR10 Chromosome:2 22cen-q12.3 UQCR10 HGNC:30863 true 2020-06-12T23:06:53Z 2020-07-28T02:32:07Z 0 0 0 926 CDBP00925 Cytochrome b-c1 complex subunit 1, mitochondrial P31930 QCR1_HUMAN false false Metal Binding Homo_sapiens UQCRC1 480 52645.3 6.32 Involved in catalytic activity This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This protein may mediate formation of the complex between cytochromes c and c1 ["None"] ["None"] AK313090 189053663 UQCRC1 Chromosome:3 3p21.3 UQCRC1 HGNC:12585 true 2020-06-12T23:06:53Z 2020-07-28T02:31:56Z 0 1 0 927 CDBP00926 Cytochrome b-c1 complex subunit 7 P14927 QCR7_HUMAN true true Enzyme Homo_sapiens UQCRB 111 13530.3 9.23 Involved in ubiquinol-cytochrome-c reductase activity This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This component is involved in redox-linked proton pumping ["None"] ["None"] 1PPJ X13585 37580 UQCRB Chromosome:8 8q22 UQCRB HGNC:12582 true 2020-06-12T23:06:53Z 2020-07-28T02:26:12Z 0 0 0 928 CDBP00927 Cytochrome b P00156 CYB_HUMAN false false Enzyme Homo_sapiens MT-CYB 380 42729.1 8.22 Involved in respiratory electron transport chain Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is a respiratory chain that generates an electrochemical potential coupled to ATP synthesis ["None"] ["33-53", "76-98", "115-135", "138-158", "178-198", "230-250", "288-308", "323-343", "349-369"] D38112 4835578 MT-CYB MT-CYB HGNC:7427 true 2020-06-12T23:06:53Z 2020-07-28T02:33:26Z 0 0 0 929 CDBP00928 Cytochrome b-c1 complex subunit Rieske, mitochondrial P47985 UCRI_HUMAN true true Enzyme Homo_sapiens UQCRFS1 274 29667.695 8.319 Involved in oxidoreductase activity Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is a respiratory chain that generates an electrochemical potential coupled to ATP synthesis. The transit peptide of the Rieske protein seems to form part of the bc1 complex and is considered to be the subunit 11/IX of that complex (By similarity). AC007786 5042402 UQCRFS1 19 19q12 UQCRFS1 HGNC:12587 true hsa:7386 NP_005994.2:NM_006003.2 2Fe-2S cluster The bc1 complex contains 11 subunits: 3 respiratory subunits (cytochrome b, cytochrome c1 and Rieske/UQCRFS1), 2 core proteins (UQCRC1/QCR1 and UQCRC2/QCR2) and 6 low-molecular weight proteins (UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and a cleavage product of Rieske/UQCRFS1) 2020-06-12T23:06:53Z 2020-07-28T02:26:12Z 0 1 0 930 CDBP00929 Cytochrome c1, heme protein, mitochondrial P08574 CY1_HUMAN false false Metal Binding Homo_sapiens CYC1 325 35389.5 9.25 Involved in iron ion binding This is the heme-containing component of the cytochrome b-c1 complex, which accepts electrons from Rieske protein and transfers electrons to cytochrome c in the mitochondrial respiratory chain ["None"] ["292-306"] 1PPJ BC001006 12654367 CYC1 Chromosome:8 8q24.3 CYC1 HGNC:2579 true 2020-06-12T23:06:53Z 2020-07-28T02:31:56Z 0 1 0 931 CDBP00930 Cytochrome b-c1 complex subunit 6, mitochondrial P07919 QCR6_HUMAN false true Transporter Homo_sapiens UQCRH 91 10738.7 4.1 Involved in ubiquinol-cytochrome-c reductase activity This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This protein may mediate formation of the complex between cytochromes c and c1 ["None"] ["None"] 3BCC AK311967 189065183 UQCRH Chromosome:1 1p34.1 UQCRH HGNC:12590 true 2020-06-12T23:06:53Z 2020-07-28T02:32:07Z 0 0 0 932 CDBP00931 Polypeptide N-acetylgalactosaminyltransferase 11 Q8NCW6 GLT11_HUMAN true false Enzyme Homo_sapiens GALNT11 608 68918.365 8.188 Involved in polypeptide N-acetylgalactosaminyltransfera Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Displays the same enzyme activity toward Muc1, Muc4.1, and EA2 than GALNT1. Does not appear to be involved in glycosylation of erythropoietin. AC006017 5630076 GALNT11 7 7q36.1 GALNT11 HGNC:19875 true hsa:63917 NP_071370.2:NM_022087.2 Highly expressed in kidney. Expressed at intermediate level in brain, heart and skeletal muscle. Weakly expressed other tissues. In kidney, it is strongly expressed in tubules but not expressed in glomeruli. Manganese;Calcium 2020-06-12T23:06:53Z 2020-07-28T02:26:12Z 0 0 0 933 CDBP00932 Polypeptide N-acetylgalactosaminyltransferase 4 Q8N4A0 GALT4_HUMAN true false Enzyme Homo_sapiens GALNT4 578 45701.465 9.191 Involved in polypeptide N-acetylgalactosaminyltransfera Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has a highest activity toward Muc7, EA2 and Muc2, with a lowest activity than GALNT2. Glycosylates 'Thr-57' of SELPLG. BC036390 22137798 GALNT4 12 12q21.33 GALNT4 HGNC:4126 true hsa:8693 NP_001186711.1:NM_001199782.1;NP_003765.2:NM_003774.4 Ubiquitous. Highly expressed in mucous cells. Manganese;Calcium 2020-06-12T23:06:53Z 2020-07-28T02:26:13Z 0 0 0 934 CDBP00933 Polypeptide N-acetylgalactosaminyltransferase 3 Q14435 GALT3_HUMAN true false Enzyme Homo_sapiens GALNT3 633 72609.79 7.983 Cell wall/membrane/envelope biogenesis Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward HIV envelope glycoprotein gp120, EA2, Muc2 and Muc5. Probably glycosylates fibronectin in vivo. Glycosylates FGF23. Plays a central role in phosphate homeostasis. AC009495 62822129 GALNT3 2 2q24-q31 GALNT3 HGNC:4125 true hsa:2591 NP_004473.2:NM_004482.3 Expressed in organs that contain secretory epithelial glands. Highly expressed in pancreas, skin, kidney and testis. Weakly expressed in prostate, ovary, intestine and colon. Also expressed in placenta and lung and fetal lung and fetal kidney. Manganese;Calcium 2020-06-12T23:06:53Z 2020-07-28T02:26:13Z 0 0 0 935 CDBP00934 Probable polypeptide N-acetylgalactosaminyltransferase 8 Q9NY28 GALT8_HUMAN true false Enzyme Homo_sapiens GALNT8 637 72850.77 8.86 Cell wall/membrane/envelope biogenesis Probably catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor (By similarity). AJ271385 7657926 GALNT8 12 12p13.3 GALNT8 HGNC:4130 true hsa:26290 NP_059113.1:NM_017417.1 Widely expressed. Expressed in heart, skeletal muscle, kidney, liver, small intestine and placenta. Weakly expressed in colon, thymus, spleen, lung and leukocyte. Manganese;Calcium 2020-06-12T23:06:53Z 2020-07-28T02:26:13Z 0 0 0 936 CDBP00935 Polypeptide N-acetylgalactosaminyltransferase-like protein 2 Q8N3T1 GLTL2_HUMAN true false Enzyme Homo_sapiens GALNTL2 639 73062.79 6.908 Involved in polypeptide N-acetylgalactosaminyltransfera Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Although it displays a much weaker activity toward all substrates tested compared to GALNT2, it is able to transfer up to seven GalNAc residues to the Muc5AC peptide, suggesting that it can fill vicinal Thr/Ser residues in cooperation with other GALNT proteins. Prefers Muc1a as substrate. NM_054110.4 190014583 GALNTL2 3 3p25.1 GALNTL2 HGNC:21531 true hsa:117248 NP_473451.3:NM_054110.4 Widely expressed. Highly expressed in small intestine, placenta, spleen, cerebral cortex and ovary. Expressed at intermediate level in uterus, mammary gland, stomach, cerebellum and whole brain. Weakly expressed in fetal brain, bone marrow, thyroid gland, thymus, heart, skeletal muscle, lung, liver, colon, pancreas, kidney and testis. Not expressed in leukocyte. Expressed in both normal and osteoarthritic cartilage. Expressed at low level in chondrocytes in all zones of both normal and osteoarthritic cartilage. Manganese;Calcium 2020-06-12T23:06:53Z 2020-07-28T02:26:13Z 0 0 0 937 CDBP00936 Putative polypeptide N-acetylgalactosaminyltransferase-like protein 1 Q8N428 GLTL1_HUMAN true false Enzyme Homo_sapiens GALNTL1 558 63073.595 9.133 Involved in polypeptide N-acetylgalactosaminyltransfera May catalyze the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor (By similarity). NM_001168368.1 270265827 GALNTL1 14 14q24.1 GALNTL1 HGNC:23233 true hsa:57452 NP_001161840.1:NM_001168368.1;NP_065743.2:NM_020692.2 Manganese;Calcium 2020-06-12T23:06:53Z 2020-07-28T02:26:13Z 0 0 0 938 CDBP00937 Polypeptide N-acetylgalactosaminyltransferase 10 Q86SR1 GLT10_HUMAN true false Enzyme Homo_sapiens GALNT10 603 68991.22 8.592 Involved in metal ion binding Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward Muc5Ac and EA2 peptide substrates. 2D7I;2D7R AB078145 28268676 GALNT10 5 5q33.2 GALNT10 HGNC:19873 true hsa:55568 NP_938080.1:NM_198321.3 Widely expressed. Expressed at high level in small intestine, and at intermediate levels in stomach, pancreas, ovary, thyroid gland and spleen. Weakly expressed in other tissues. Manganese;Calcium 2020-06-12T23:06:53Z 2020-07-28T02:26:13Z 0 1 0 939 CDBP00938 Polypeptide N-acetylgalactosaminyltransferase 13 Q8IUC8 GLT13_HUMAN true false Enzyme Homo_sapiens GALNT13 556 64050.095 6.835 Involved in polypeptide N-acetylgalactosaminyltransfera Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has a much stronger activity than GALNT1 to transfer GalNAc to mucin peptides, such as Muc5Ac and Muc7. Able to glycosylate SDC3. May be responsible for the synthesis of Tn antigen in neuronal cells. NM_052917.2 145309313 GALNT13 2 2q24.1 GALNT13 HGNC:23242 true hsa:114805 NP_443149.2:NM_052917.2 Specifically expressed in neuronal cells. Expressed in fetal brain, whole adult brain, cerebral cortex and cerebellum. Not expressed in other tissues tested. Manganese;Calcium 2020-06-12T23:06:53Z 2020-07-28T02:26:13Z 0 0 0 940 CDBP00939 Putative polypeptide N-acetylgalactosaminyltransferase-like protein 3 Q6IS24 GLTL3_HUMAN true false Enzyme Homo_sapiens WBSCR17 598 67750.455 8.899 Involved in polypeptide N-acetylgalactosaminyltransfera May catalyze the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor (By similarity). AF410457 21552746 WBSCR17 7 7q11.23 WBSCR17 HGNC:16347 true hsa:64409 NP_071924.1:NM_022479.1 Highly expressed in brain and heart. Weakly expressed in kidney, liver, lung and spleen. Manganese;Calcium 2020-06-12T23:06:53Z 2020-07-28T02:26:13Z 0 0 0 941 CDBP00940 Putative polypeptide N-acetylgalactosaminyltransferase-like protein 4 Q6P9A2 GLTL4_HUMAN true false Enzyme Homo_sapiens GALNTL4 607 69559.95 6.493 Involved in polypeptide N-acetylgalactosaminyltransfera May catalyze the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor (By similarity). NM_198516.2 222446618 GALNTL4 11 11p15.3 GALNTL4 HGNC:30488 true hsa:374378 NP_940918.2:NM_198516.2 Manganese;Calcium 2020-06-12T23:06:53Z 2020-07-28T02:26:13Z 0 0 0 942 CDBP00941 N-acetylgalactosaminyltransferase 7 Q86SF2 GALT7_HUMAN true false Enzyme Homo_sapiens GALNT7 657 75388.6 7.12 Involved in polypeptide N-acetylgalactosaminyltransfera Glycopeptide transferase involved in O-linked oligosaccharide biosynthesis, which catalyzes the transfer of an N-acetyl-D-galactosamine residue to an already glycosylated peptide. In contrast to other proteins of the family, it does not act as a peptide transferase that transfers GalNAc onto serine or threonine residue on the protein receptor, but instead requires the prior addition of a GalNAc on a peptide before adding additional GalNAc moieties. Some peptide transferase activity is however not excluded, considering that its appropriate peptide substrate may remain unidentified ["None"] ["7-29"] AJ002744 6318186 GALNT7 Chromosome:4 4q31.1 GALNT7 HGNC:4129 true 2020-06-12T23:06:53Z 2020-07-28T02:26:13Z 0 0 0 943 CDBP00942 Polypeptide N-acetylgalactosaminyltransferase 6 Q8NCL4 GALT6_HUMAN true false Enzyme Homo_sapiens GALNT6 622 71158.055 8.171 Cell wall/membrane/envelope biogenesis Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. May participate in synthesis of oncofetal fibronectin. Has activity toward Muc1a, Muc2, EA2 and fibronectin peptides. NM_007210.3 115298684 GALNT6 12 12q13 GALNT6 HGNC:4128 true hsa:11226 NP_009141.2:NM_007210.3 Expressed in placenta and trachea. Weakly expressed in brain and pancreas. Expressed in fibroblast. Weakly or not expressed in lung, liver, muscle, kidney, spleen, thymus, prostate, testis, ovary, intestine, colon, leukocyte, stomach, thyroid, spinal cord, lymph node, trachea, adrenal gland and bone marrow. Manganese;Calcium 2020-06-12T23:06:53Z 2020-07-28T02:26:13Z 0 0 0 944 CDBP00943 Polypeptide N-acetylgalactosaminyltransferase 14 Q96FL9 GLT14_HUMAN true false Enzyme Homo_sapiens GALNT14 552 64288.56 8.045 Involved in polypeptide N-acetylgalactosaminyltransfera Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Displays activity toward mucin-derived peptide substrates such as Muc2, Muc5AC, Muc7, and Muc13 (-58). May be involved in O-glycosylation in kidney. AB078144 28268674 GALNT14 2 2p23.1 GALNT14 HGNC:22946 true hsa:79623 NP_001240755.1:NM_001253826.1;NP_001240756.1:NM_001253827.1;NP_078848.2:NM_024572.3 Highly expressed in fetal and adult kidney. Widely expressed at low level. Weakly expressed in whole brain, cerebellum, thymus, lung, mammary gland, liver, stomach, small intestine, colon, pancreas, spleen, bladder, uterus, placenta, testis, ovary, skeletal muscle, leukocyte, B-cell, bone marrow, fetal brain, fetal thymus, fetal lung, fetal liver, fetal small intestine, fetal spleen, fetal skeletal and fetus. Manganese;Calcium 2020-06-12T23:06:53Z 2020-07-28T02:26:13Z 0 0 0 945 CDBP00944 Polypeptide N-acetylgalactosaminyltransferase 2 Q10471 GALT2_HUMAN true false Enzyme Homo_sapiens GALNT2 571 64732.35 8.348 Involved in manganese ion binding Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has a broad spectrum of substrates for peptides such as EA2, Muc5AC, Muc1a, Muc1b. Probably involved in O-linked glycosylation of the immunoglobulin A1 (IgA1) hinge region. 2FFU;2FFV AK290048 158261119 GALNT2 1 1q41-q42 GALNT2 HGNC:4124 true hsa:2590 NP_004472.1:NM_004481.3 Widely expressed. Manganese;Calcium 2020-06-12T23:06:53Z 2020-07-28T02:26:13Z 0 0 0 946 CDBP00945 Polypeptide N-acetylgalactosaminyltransferase 12 Q8IXK2 GLT12_HUMAN true false Enzyme Homo_sapiens GALNT12 581 66937.79 6.795 Involved in polypeptide N-acetylgalactosaminyltransfera Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward non-glycosylated peptides such as Muc5AC, Muc1a and EA2, and no detectable activity with Muc2 and Muc7. Displays enzymatic activity toward the Gal-NAc-Muc5AC glycopeptide, but no detectable activity to mono-GalNAc-glycosylated Muc1a, Muc2, Muc7 and EA2. May play an important role in the initial step of mucin-type oligosaccharide biosynthesis in digestive organs. AB078146 22122074 GALNT12 9 9q22.33 GALNT12 HGNC:19877 true hsa:79695 NP_078918.3:NM_024642.4 Widely expressed at different levels of expression. Highly expressed in digestive organs such as small intestine, stomach, pancreas and colon. Expressed at intermediate level in testis, thyroid gland and spleen. Weakly expressed in whole brain, cerebral cortex, cerebellum, fetal brain, bone marrow, thymus, leukocytes, heart, skeletal muscle, liver, lung, esophagus, kidney, adrenal gland, mammary gland, uterus, placenta, ovary and prostate. Manganese;Calcium 2020-06-12T23:06:53Z 2020-07-28T02:26:13Z 0 0 0 947 CDBP00946 Polypeptide N-acetylgalactosaminyltransferase 1 Q10472 GALT1_HUMAN true false Enzyme Homo_sapiens GALNT1 559 64218.52 7.718 Involved in manganese ion binding Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has a broad spectrum of substrates for peptides such as EA2, Muc5AC, Muc1a, Muc1b and Muc7. NM_020474.3 13124891 GALNT1 18 18q12.1 GALNT1 HGNC:4123 true hsa:2589 NP_065207.2:NM_020474.3 Widely expressed. Expressed in all tissues tested. Manganese;Calcium 2020-06-12T23:06:53Z 2020-07-28T02:26:13Z 0 0 0 948 CDBP00947 Polypeptide N-acetylgalactosaminyltransferase 5 Q7Z7M9 GALT5_HUMAN true false Enzyme Homo_sapiens GALNT5 940 106265.345 9.465 Involved in polypeptide N-acetylgalactosaminyltransfera Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward EA2 peptide substrate, but has a weak activity toward Muc2 or Muc1b substrates (By similarity). NM_014568.1 32698686 GALNT5 2 2q24.1 GALNT5 HGNC:4127 true hsa:11227 NP_055383.1:NM_014568.1 Manganese;Calcium Interacts with EXT2. Does not interact with EXT1, EXTL1 or EXTL3 2020-06-12T23:06:53Z 2020-07-28T02:26:13Z 0 0 0 949 CDBP00948 Trans-2-enoyl-CoA reductase, mitochondrial Q9BV79 MECR_HUMAN true false Enzyme Homo_sapiens MECR 373 32228.0 7.214 Involved in zinc ion binding Catalyzes the reduction of trans-2-enoyl-CoA to acyl-CoA with chain length from C6 to C16 in an NADPH-dependent manner with preference to medium chain length substrate. May have a role in the mitochondrial synthesis of fatty acids. 1ZSY;2VCY AF151821 4929595 MECR 1 1p35.3 MECR HGNC:19691 true hsa:51102 NP_001019903.1:NM_001024732.1;NP_057095.2:NM_016011.2 Highly expressed in skeletal and heart muscle. Expressed at lower level in placenta, liver, kidney and pancreas. Weakly or not expressed in lung. Homodimer 2020-06-12T23:06:53Z 2020-07-28T02:26:13Z 0 1 0 950 CDBP00949 Peroxisomal trans-2-enoyl-CoA reductase Q9BY49 PECR_HUMAN true false Enzyme Homo_sapiens PECR 303 32544.11 8.807 Involved in regulation of apoptosis Participates in chain elongation of fatty acids. Has no 2,4-dienoyl-CoA reductase activity. 1YXM AF232009 PECR 2 2q35 PECR HGNC:18281 true hsa:55825 HS03889-MONOMER NP_060911.2:NM_018441.5 Interacts with PEX5, probably required to target it into peroxisomes 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 951 CDBP00950 Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial Q96EY8 MMAB_HUMAN true false Enzyme Homo_sapiens MMAB 250 27387.975 8.606 Involved in ATP binding 2IDX BC005054 127802458 MMAB 12 12q24 MMAB HGNC:19331 true hsa:326625 NP_443077.1:NM_052845.3 Expressed in liver and skeletal muscle. Homotrimer 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 952 CDBP00951 Leukotriene-B(4) omega-hydroxylase 1 P78329 CP4F2_HUMAN true false Enzyme Homo_sapiens CYP4F2 520 59852.825 7.075 Involved in monooxygenase activity Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. AB015306 4519535 CYP4F2 19 19p13.12 CYP4F2 HGNC:2645 true hsa:8529 HS02675-MONOMER NP_001073.3:NM_001082.3 Liver. Heme group 2020-06-12T23:06:53Z 2020-07-28T02:26:14Z 0 1 0 953 CDBP00952 Leukotriene-B(4) omega-hydroxylase 2 Q08477 CP4F3_HUMAN true false Enzyme Homo_sapiens CYP4F3 520 59846.085 7.633 Involved in monooxygenase activity Cytochromes P450 are a group of heme-thiolate monooxygenases. This enzyme requires molecular oxygen and NADPH for the omega-hydroxylation of LTB4, a potent chemoattractant for polymorphonuclear leukocytes. AB002454 3123723 CYP4F3 19 19p13.2 CYP4F3 HGNC:2646 true hsa:4051 NP_000887.2:NM_000896.2;NP_001186137.1:NM_001199208.1 Expressed in the polymorphonuclear leukocytes as well as leukocytes. Heme group 2020-06-12T23:06:53Z 2020-07-28T02:26:14Z 0 1 0 954 CDBP00953 Leukotriene A-4 hydrolase P09960 LKHA4_HUMAN true false Enzyme Homo_sapiens LTA4H 611 69284.64 6.177 Involved in binding Epoxide hydrolase that catalyzes the final step in the biosynthesis of the proinflammatory mediator leukotriene B4. Has also aminopeptidase activity. 1GW6;1H19;1HS6;1SQM;2R59;2VJ8;3B7R;3B7S;3B7T;3B7U;3CHO;3CHP;3CHQ;3CHR;3CHS;3FH5;3FH7;3FH8;3FHE;3FTS;3FTU;3FTV;3FTW;3FTX;3FTY;3FTZ;3FU0;3FU3;3FU5;3FU6;3FUD;3FUE;3FUF;3FUH;3FUI;3FUJ;3FUK;3FUL;3FUM;3FUN;3U9W J03459 LTA4H 12 12q22 LTA4H HGNC:6710 true hsa:4048 HS03372-MONOMER NP_000886.1:NM_000895.2;NP_001243572.1:NM_001256643.1;NP_001243573.1:NM_001256644.1 Isoform 1 and isoform 2 are expressed in monocytes, lymphocytes, neutrophils, reticulocytes, platelets and fibroblasts. zinc ion Monomer 2020-06-12T23:06:53Z 2020-07-28T02:26:14Z 0 1 0 955 CDBP00954 Diphosphomevalonate decarboxylase P53602 MVD1_HUMAN true false Enzyme Homo_sapiens MVD 400 43404.125 7.228 Involved in ATP binding Performs the first committed step in the biosynthesis of isoprenes. 3D4J BC000011 12652543 MVD 16 16q24.3 MVD HGNC:7529 true hsa:4597 ENSG00000167508-MONOMER NP_002452.1:NM_002461.1 Expressed in heart, skeletal muscle, lung, liver, brain, pancreas, kidney and placenta. Homodimer 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 956 CDBP00955 Phosphomevalonate kinase Q15126 PMVK_HUMAN true false Enzyme Homo_sapiens PMVK 192 21994.745 5.729 Involved in phosphomevalonate kinase activity 3CH4 L77213 PMVK 1 1q22 PMVK HGNC:9141 true hsa:10654 HS08830-MONOMER NP_006547.1:NM_006556.3 Heart, liver, skeletal muscle, kidney, and pancreas. Lower level in brain, placenta and lung. Monomer 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 957 CDBP00956 Cytochrome P450 3A4 P08684 CP3A4_HUMAN false false Metal Binding Homo_sapiens CYP3A4 503 57255.585 8.097 Involved in monooxygenase activity Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It performs a variety of oxidation reactions (e.g. caffeine 8-oxidation, omeprazole sulphoxidation, midazolam 1'-hydroxylation and midazolam 4-hydroxylation) of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. Acts as a 1,8-cineole 2-exo-monooxygenase. The enzyme also hydroxylates etoposide. 1TQN;1W0E;1W0F;1W0G;2J0D;2V0M;3NXU;3TJS;3UA1 AF182273 6470135 CYP3A4 7 7q21.1 CYP3A4 HGNC:2637 true hsa:1576 HS08544-MONOMER NP_001189784.1:NM_001202855.2;NP_059488.2:NM_017460.5 Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). Heme group 2020-06-12T23:06:53Z 2020-07-28T02:31:56Z 0 1 0 958 CDBP00957 Alpha-(1,3)-fucosyltransferase Q11128 FUT5_HUMAN true false Enzyme Homo_sapiens FUT5 374 42988.655 8.113 Involved in fucosyltransferase activity May catalyze alpha-1,3 glycosidic linkages involved in the expression of VIM-2, Lewis X/SSEA-1 and sialyl Lewis X antigens. NM_002034.2 52485799 FUT5 19 19p13.3 FUT5 HGNC:4016 true hsa:2527 NP_002025.2:NM_002034.2 Liver, colon and testis and trace amounts in T-cells and brain. 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 959 CDBP00958 Protoporphyrinogen oxidase P50336 PPOX_HUMAN true false Enzyme Homo_sapiens PPOX 477 50764.8 8.16 Involved in catalytic activity Catalyzes the 6-electron oxidation of protoporphyrinogen-IX to form protoporphyrin-IX. 3NKS AL590714 55665937 PPOX 1 1q22 PPOX HGNC:9280 true hsa:5498 HS07011-MONOMER NP_000300.1:NM_000309.3;NP_001116236.1:NM_001122764.1 Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. FAD per dimer Homodimer 2020-06-12T23:06:53Z 2020-07-28T02:26:14Z 0 0 0 960 CDBP00959 Aspartyl/asparaginyl beta-hydroxylase Q12797 ASPH_HUMAN true false Enzyme Homo_sapiens ASPH 758 83267.47 4.914 Involved in peptide-aspartate beta-dioxygenase activity Isoform 1: specifically hydroxylates an Asp or Asn residue in certain epidermal growth factor-like (EGF) domains of a number of proteins. Isoform 8: membrane-bound Ca(2+)-sensing protein, which is a structural component of the ER-plasma membrane junctions. Isoform 8 regulates the activity of Ca(+2) released-activated Ca(+2) (CRAC) channels in T-cells. 3RCQ NM_004318.3 14589866 ASPH 8 8q12.1 ASPH HGNC:757 true hsa:444 NP_001158222.1:NM_001164750.1;NP_001158223.1:NM_001164751.1;NP_001158225.1:NM_001164753.1;NP_001158227.1:NM_001164755.1;NP_001158228.1:NM_001164756.1;NP_004309.2:NM_004318.3;NP_064549.1:NM_020164.4;NP_115855.1:NM_032466.3;NP_115856.1:NM_032467.3;NP_115857.1:NM_032468.4 Isoform 1 is detected in all tissues tested. Isoform 8 is mainly expressed in pancreas, heart, brain, kidney and liver. Isoform 8 is expressed in kidney (at protein level). Iron Monomer . Isoform 8 interacts with ORAI1 and STIM1 2020-06-12T23:06:53Z 2020-07-28T02:26:14Z 0 0 1 961 CDBP00960 Hypoxia-inducible factor 1-alpha inhibitor Q9NWT6 HIF1N_HUMAN false false Transcription Factor Homo_sapiens HIF1AN 349 40285.25 5.57 Involved in metal ion binding Hydroxylates HIF-1 alpha at 'Asp-803' in the C-terminal transactivation domain (CAD). Functions as an oxygen sensor and, under normoxic conditions, the hydroxylation prevents interaction of HIF-1 with transcriptional coactivators including Cbp/p300-interacting transactivator. Involved in transcriptional repression through interaction with HIF1A, VHL and histone deacetylases. Hydroxylates specific Asn residues within ankyrin repeat domains (ARD) of NFKB1, NFKBIA, NOTCH1, ASB4, PPP1R12A and several other ARD-containing proteins. Also hydroxylates Asp and His residues within ARDs of ANK1 and TNKS2, respectively. Negatively regulates NOTCH1 activity, accelerating myogenic differentiation. Positively regulates ASB4 activity, promoting vascular differentiation. 1H2K;1H2L;1H2M;1H2N;1IZ3;1MZE;1MZF;1YCI;2CGN;2CGO;2ILM;2W0X;2WA3;2WA4;2XUM;2Y0I;2YC0;2YDE;3D8C;3KCX;3KCY;3OD4;3P3N;3P3P;4AI8 AF395830 HIF1AN 10 10q24 HIF1AN HGNC:17113 true hsa:55662 HS15407-MONOMER NP_060372.2:NM_017902.2 Fe(2+) ion Homodimer; homodimerization is essential for catalytic activity. Interacts with VHL and HIF1A. Part of a complex with VHL, HIF1A and HDAC1 or HDAC2 or HDAC3. Interacts with NFKB1 and NFKBIA. Interacts with NOTCH1, NOTCH2 and NOTCH3 but not with NOTCH4. Interacts with APBA3; binding inhibits HIF1AN binding to HIF1A. Interacts with TNKS2. Interacts with PPP1R12A. Interacts with ASB4 . Interacts with UBE3A 2020-06-12T23:06:53Z 2020-07-28T02:32:06Z 0 0 1 962 CDBP00961 Pantothenate kinase 4 Q9NVE7 PANK4_HUMAN true false Enzyme Homo_sapiens PANK4 773 85990.12 6.277 Involved in pantothenate kinase activity Plays a role in the physiological regulation of the intracellular CoA concentration (By similarity). AK001644 7023024 PANK4 1 1p36.32 PANK4 HGNC:19366 true hsa:55229 NP_060686.1:NM_018216.1 Ubiquitously expressed with higher expression in the muscle. Homodimer. Interacts with PKM 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 963 CDBP00962 Pantothenate kinase 2, mitochondrial Q9BZ23 PANK2_HUMAN true false Enzyme Homo_sapiens PANK2 570 30753.12 6.086 Involved in pantothenate kinase activity May be the master regulator of the CoA biosynthesis (By similarity). AF494409 23452046 PANK2 20 20p13 PANK2 HGNC:15894 true hsa:80025 NP_079236.3:NM_024960.4;NP_705902.2:NM_153638.2;NP_705904.1:NM_153640.2 Ubiquitous. Homodimer 2020-06-12T23:06:53Z 2020-07-28T02:26:15Z 0 0 0 964 CDBP00963 Pantothenate kinase 1 Q8TE04 PANK1_HUMAN true false Enzyme Homo_sapiens PANK1 598 35578.965 7.636 Involved in pantothenate kinase activity Plays a role in the physiological regulation of the intracellular CoA concentration (By similarity). 2I7N;3SMP NM_148977.1 23510400 PANK1 10 10q23.31 PANK1 HGNC:8598 true hsa:53354 NP_612189.2:NM_138316.3;NP_683878.1:NM_148977.2;NP_683879.1:NM_148978.2 Isoform 1 is expressed at high levels in brain, heart, kidney, liver, skeletal muscle and testis. Isoform 2 is detected at much lower levels in kidney, liver, brain and testis and is not detected in heart or skeletal muscle. Homodimer 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 965 CDBP00964 Pantothenate kinase 3 Q9H999 PANK3_HUMAN true false Enzyme Homo_sapiens PANK3 370 41093.695 6.553 Involved in pantothenate kinase activity Plays a role in the physiological regulation of the intracellular CoA concentration (By similarity). 2I7P;3MK6;3SMS AK022961 10434655 PANK3 5 5q34 PANK3 HGNC:19365 true hsa:79646 NP_078870.1:NM_024594.3 Highly expressed in the liver. Homodimer 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 966 CDBP00965 N-acetyl-D-glucosamine kinase Q9UJ70 NAGK_HUMAN true false Enzyme Homo_sapiens NAGK 344 42037.295 6.687 Carbohydrate transport and metabolism Converts endogenous N-acetylglucosamine (GlcNAc), a major component of complex carbohydrates, from lysosomal degradation or nutritional sources into GlcNAc 6-phosphate. Involved in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway: although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded. Also has ManNAc kinase activity. 2CH5;2CH6 AJ242910 6491737 NAGK 2 2p13.3 NAGK HGNC:17174 true hsa:55577 NP_060037.3:NM_017567.4 Ubiquitous. Homodimer 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 967 CDBP00966 Acidic mammalian chitinase Q9BZP6 CHIA_HUMAN true false Enzyme Homo_sapiens CHIA 476 Involved in chitin binding Degrades chitin and chitotriose. May participate in the defense against nematodes, fungi and other pathogens. Plays a role in T-helper cell type 2 (Th2) immune response. Contributes to the response to IL-13 and inflammation in response to IL-13. Stimulates chemokine production by pulmonary epithelial cells. Protects lung epithelial cells against apoptosis and promotes phosphorylation of AKT1. Its function in the inflammatory response and in protecting cells against apoptosis is inhibited by allosamidin, suggesting that the function of this protein depends on carbohydrate binding. 2YBT;2YBU;3FXY;3FY1;3RM4;3RM8;3RM9;3RME NM_201653.2 133893286 CHIA CHIA HGNC:17432 true hsa:27159 NP_001035713.1:NM_001040623.2;NP_001244930.1:NM_001258001.1;NP_001244931.1:NM_001258002.1;NP_001244932.1:NM_001258003.1;NP_001244933.1:NM_001258004.1;NP_001244934.1:NM_001258005.1;NP_068569.2:NM_021797.3;NP_970615.2:NM_201653.3 Detected in lung epithelial cells from asthma patients (at protein level). Highly expressed in stomach. Detected at lower levels in lung. Interacts with EGFR 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 968 CDBP00967 N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase Q9UK23 NAGPA_HUMAN true false Enzyme Homo_sapiens NAGPA 515 56072.49 6.595 Involved in N-acetylglucosamine-1-phosphodiester alpha- Catalyzes the second step in the formation of the mannose 6-phosphate targeting signal on lysosomal enzyme oligosaccharides by removing GlcNAc residues from GlcNAc-alpha-P-mannose moieties, which are formed in the first step. NM_016256.3 66346700 NAGPA 16 16p13.3 NAGPA HGNC:17378 true hsa:51172 NP_057340.2:NM_016256.3 Isoform 2 may be brain-specific. Homotetramer arranged as two disulfide-linked homodimers 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 969 CDBP00968 Chitotriosidase-1 Q13231 CHIT1_HUMAN true false Enzyme Homo_sapiens CHIT1 466 Involved in chitin binding Degrades chitin, chitotriose and chitobiose. May participate in the defense against nematodes and other pathogens. Isoform 3 has no enzymatic activity. 1GUV;1HKI;1HKJ;1HKK;1HKM;1LG1;1LG2;1LQ0;1WAW;1WB0 U29615 CHIT1 CHIT1 HGNC:1936 true hsa:1118 NP_001243054.2:NM_001256125.1;NP_003456.1:NM_003465.2 Detected in spleen. Secreted by cultured macrophages. Monomer 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 970 CDBP00969 Beta-1,4-galactosyltransferase 3 O60512 B4GT3_HUMAN true false Enzyme Homo_sapiens B4GALT3 393 43927.63 9.25 Involved in transferase activity, transferring glycosyl groups Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids. Y12509 2982510 B4GALT3 1 1q21-q23 B4GALT3 HGNC:926 true hsa:8703 NP_001186802.1:NM_001199873.1;NP_001186803.1:NM_001199874.1;NP_003770.1:NM_003779.3 Found in various tissues. Highest expression in placenta, prostate, testis, ovary, intestine and muscle, and in fetal brain. Manganese 2020-06-12T23:06:53Z 2020-07-28T02:26:15Z 0 1 0 971 CDBP00970 Beta-1,4-galactosyltransferase 4 O60513 B4GT4_HUMAN true false Enzyme Homo_sapiens B4GALT4 344 40040.865 9.074 Involved in transferase activity, transferring glycosyl groups Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids. AF038662 B4GALT4 3 3q13.3 B4GALT4 HGNC:927 true hsa:8702 HS04504-MONOMER NP_003769.1:NM_003778.3;NP_997708.1:NM_212543.1 High expression in heart, placenta, kidney and pancreas; lower in brain, colon, lung, muscle, ovary, testis and uterus. Manganese 2020-06-12T23:06:53Z 2020-07-28T02:26:15Z 0 1 0 972 CDBP00971 Ornithine decarboxylase P11926 DCOR_HUMAN true false Enzyme Homo_sapiens ODC1 461 51147.73 5.265 Involved in catalytic activity 1D7K;2ON3;2OO0 M16650 29893806 ODC1 2 2p25 ODC1 HGNC:8109 true hsa:4953 HS03935-MONOMER NP_002530.1:NM_002539.1 Pyridoxal phosphate Homodimer 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 973 CDBP00972 Arginase-2, mitochondrial P78540 ARGI2_HUMAN true false Enzyme Homo_sapiens ARG2 354 38577.515 6.468 Involved in arginase activity May play a role in the regulation of extra-urea cycle arginine metabolism and also in down-regulation of nitric oxide synthesis. Extrahepatic arginase functions to regulate L-arginine bioavailability to NO synthase. Since NO synthase is found in the penile corpus cavernosum smooth muscle, the clitoral corpus cavernosum and the vagina, arginase II plays a role in both male and female sexual arousal. It is therefore a potential target for the treatment of male and female sexual arousal disorders. 1PQ3 AK312484 189065548 ARG2 14 14q24.1 ARG2 HGNC:664 true hsa:384 HS01388-MONOMER NP_001163.1:NM_001172.3 Expressed most strongly in kidney and prostate, much less strongly in the brain, skeletal muscle, placenta, lung, mammary gland, macrophage, uterus, testis and gut, but apparently not in the liver, heart and pancreas. manganese ions Homotrimer 2020-06-12T23:06:53Z 2020-07-28T02:26:15Z 0 1 0 974 CDBP00973 Cytochrome P450 2C9 P11712 CP2C9_HUMAN false false Metal Binding Homo_sapiens CYP2C9 490 55627.365 7.907 Involved in monooxygenase activity Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. This enzyme contributes to the wide pharmacokinetics variability of the metabolism of drugs such as S-warfarin, diclofenac, phenytoin, tolbutamide and losartan. 1OG2;1OG5;1R9O AY341248 32891803 CYP2C9 10 10q24 CYP2C9 HGNC:2623 true hsa:1559 NP_000762.2:NM_000771.3 Heme group 2020-06-12T23:06:53Z 2020-07-28T02:31:56Z 0 1 0 975 CDBP00974 Sterol 26-hydroxylase, mitochondrial Q02318 CP27A_HUMAN true false Enzyme Homo_sapiens CYP27A1 531 60234.28 8.897 Involved in monooxygenase activity Catalyzes the first step in the oxidation of the side chain of sterol intermediates; the 27-hydroxylation of 5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol. Has also a vitamin D3-25-hydroxylase activity. 1MFX M62401 CYP27A1 2 2q33-qter CYP27A1 HGNC:2605 true hsa:1593 NP_000775.1:NM_000784.3 Heme group 2020-06-12T23:06:53Z 2020-07-28T02:26:16Z 0 1 0 976 CDBP00975 Cytochrome P450 2C19 P33261 CP2CJ_HUMAN false false Metal Binding Homo_sapiens CYP2C19 490 55944.565 7.383 Involved in monooxygenase activity Responsible for the metabolism of a number of therapeutic agents such as the anticonvulsant drug S-mephenytoin, omeprazole, proguanil, certain barbiturates, diazepam, propranolol, citalopram and imipramine. 4GQS M61854 181344 CYP2C19 10 10q24 CYP2C19 HGNC:2621 true hsa:1557 HS09293-MONOMER NP_000760.1:NM_000769.1 Heme group 2020-06-12T23:06:53Z 2020-07-28T02:31:56Z 0 1 0 977 CDBP00976 6-phosphogluconate dehydrogenase, decarboxylating P52209 6PGD_HUMAN true false Enzyme Homo_sapiens PGD 483 53139.56 7.223 Involved in oxidoreductase activity Catalyzes the oxidative decarboxylation of 6-phosphogluconate to ribulose 5-phosphate and CO(2), with concomitant reduction of NADP to NADPH (By similarity). 2JKV;4GWG;4GWK BC000368 12653201 PGD 1 1p36.22 PGD HGNC:8891 true hsa:5226 NP_002622.2:NM_002631.2 Homodimer 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 978 CDBP00977 2,4-dienoyl-CoA reductase, mitochondrial Q16698 DECR_HUMAN true false Enzyme Homo_sapiens DECR1 335 36067.4 9.274 Involved in oxidoreductase activity Auxiliary enzyme of beta-oxidation. It participates in the metabolism of unsaturated fatty enoyl-CoA esters having double bonds in both even- and odd-numbered positions. Catalyzes the NADP-dependent reduction of 2,4-dienoyl-CoA to yield trans-3-enoyl-CoA. 1W6U;1W73;1W8D L26050 DECR1 8 8q21.3 DECR1 HGNC:2753 true hsa:1666 NP_001350.1:NM_001359.1 Heart = liver = pancreas > kidney >> skeletal muscle = lung. Homotetramer 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 979 CDBP00978 Quinone oxidoreductase Q08257 QOR_HUMAN true false Enzyme Homo_sapiens CRYZ 329 35206.36 8.444 Involved in zinc ion binding Does not have alcohol dehydrogenase activity. Binds NADP and acts through a one-electron transfer process. Orthoquinones, such as 1,2-naphthoquinone or 9,10-phenanthrenequinone, are the best substrates (in vitro). May act in the detoxification of xenobiotics. Interacts with (AU)-rich elements (ARE) in the 3'-UTR of target mRNA species. Enhances the stability of mRNA coding for BCL2. NADPH binding interferes with mRNA binding. 1YB5 L13278 CRYZ 1 1p31.1 CRYZ HGNC:2419 true hsa:1429 NP_001123514.1:NM_001130042.1;NP_001123515.1:NM_001130043.1;NP_001128231.1:NM_001134759.1;NP_001880.2:NM_001889.3 Only very low amounts in the lens. Homotetramer 2020-06-12T23:06:53Z 2020-07-28T02:26:16Z 0 1 0 980 CDBP00979 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial O15528 CP27B_HUMAN true false Enzyme Homo_sapiens CYP27B1 508 56503.475 9.159 Involved in monooxygenase activity Catalyzes the conversion of 25-hydroxyvitamin D3 (25(OH)D) to 1-alpha,25-dihydroxyvitamin D3 (1,25(OH)2D) plays an important role in normal bone growth, calcium metabolism, and tissue differentiation. AB005038 CYP27B1 12 12q13.1-q13.3 CYP27B1 HGNC:2606 true hsa:1594 NP_000776.1:NM_000785.3 Kidney. Heme group 2020-06-12T23:06:53Z 2020-07-28T02:26:16Z 1 1 0 981 CDBP00980 Steroid 17-alpha-hydroxylase/17,20 lyase P05093 CP17A_HUMAN true false Enzyme Homo_sapiens CYP17A1 508 57369.995 8.568 Involved in monooxygenase activity Conversion of pregnenolone and progesterone to their 17-alpha-hydroxylated products and subsequently to dehydroepiandrosterone (DHEA) and androstenedione. Catalyzes both the 17-alpha-hydroxylation and the 17,20-lyase reaction. Involved in sexual development during fetal life and at puberty. 2C17;3RUK;3SWZ M14564 CYP17A1 10 10q24.3 CYP17A1 HGNC:2593 true hsa:1586 HS07560-MONOMER NP_000093.1:NM_000102.3 Heme group 2020-06-12T23:06:53Z 2020-07-28T02:26:16Z 0 1 0 982 CDBP00981 Peroxisomal 2,4-dienoyl-CoA reductase Q9NUI1 DECR2_HUMAN true false Enzyme Homo_sapiens DECR2 292 30777.235 9.221 Involved in oxidoreductase activity Auxiliary enzyme of beta-oxidation. Participates in the degradation of unsaturated fatty enoyl-CoA esters having double bonds in both even- and odd-numbered positions in peroxisome. Catalyzes the NADP-dependent reduction of 2,4-dienoyl-CoA to yield trans-3-enoyl-CoA. Has activity towards short and medium chain 2,4-dienoyl-CoAs, but also towards 2,4,7,10,13,16,19-docosaheptaenoyl-CoA, suggesting that it does not constitute a rate limiting step in the peroxisomal degradation of docosahexaenoic acid. 4FC6;4FC7 AE006463 14336698 DECR2 16 16p13.3 DECR2 HGNC:2754 true hsa:26063 NP_065715.1:NM_020664.3 Monomer, dimer and oligomer 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 983 CDBP00982 Uridine 5'-monophosphate synthase P11172 PYR5_HUMAN true false Enzyme Homo_sapiens UMPS 480 52221.075 7.237 Involved in catalytic activity 2EAW;2JGY;2P1F;2QCC;2QCD;2QCE;2QCF;2QCG;2QCH;2QCL;2QCM;2QCN;2V30;2WNS;3BGG;3BGJ;3BK0;3BVJ;3DBP;3EWU;3EWW;3EWX;3EWY;3EWZ;3EX1;3EX2;3EX3;3EX4;3EX6;3G3D;3G3M;3L0K;3L0N;3MI2;3MO7;3MW7;4HIB;4HKP J03626 340168 UMPS 3 3q13 UMPS HGNC:12563 true hsa:7372 NP_000364.1:NM_000373.3 Homodimer 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 984 CDBP00983 Cytosolic acyl coenzyme A thioester hydrolase O00154 BACH_HUMAN true false Enzyme Homo_sapiens ACOT7 380 40454.945 7.27 Lipid transport and metabolism Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. May play an important physiological function in brain. May play a regulatory role by modulating the cellular levels of fatty acyl-CoA ligands for certain transcription factors as well as the substrates for fatty acid metabolizing enzymes, contributing to lipid homeostasis. Has broad specificity, active towards fatty acyl-CoAs with chain-lengths of C8-C18. Has a maximal activity toward palmitoyl-CoA. 2QQ2 NM_181864.2 32528282 ACOT7 1 1p36 ACOT7 HGNC:24157 true hsa:11332 NP_009205.3:NM_007274.3;NP_863654.1:NM_181864.2;NP_863655.1:NM_181865.2;NP_863656.1:NM_181866.2 Isoform 4 is expressed exclusively in brain. Homohexamer 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 985 CDBP00984 Acyl-coenzyme A thioesterase 2, mitochondrial P49753 ACOT2_HUMAN true false Enzyme Homo_sapiens ACOT2 483 53218.02 8.471 Involved in thiolester hydrolase activity Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Displays high levels of activity on medium- and long chain acyl CoAs. 3HLK AK001939 7023514 ACOT2 14 14q24.3 ACOT2 HGNC:18431 true hsa:10965 HS04318-MONOMER NP_006812.3:NM_006821.5 Strongest expression in heart, liver, muscle and kidney. Weak in placenta and pancreas. 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 986 CDBP00985 Acyl-coenzyme A thioesterase 4 Q8N9L9 ACOT4_HUMAN true false Enzyme Homo_sapiens ACOT4 421 46326.09 8.077 Involved in thiolester hydrolase activity Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH (By similarity). Succinyl-CoA thioesterase that also hydrolyzes long chain saturated and unsaturated monocarboxylic acyl-CoAs. 3K2I NM_152331.3 187761341 ACOT4 14 14q24.3 ACOT4 HGNC:19748 true hsa:122970 HS16863-MONOMER NP_689544.3:NM_152331.3 Strongest expression in liver and kidney and weaker expression in placenta, heart, and muscle. 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 987 CDBP00986 Acyl-coenzyme A thioesterase 8 O14734 ACOT8_HUMAN true false Enzyme Homo_sapiens ACOT8 319 35914.02 7.555 Involved in acyl-CoA thioesterase activity Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. May mediate Nef-induced down-regulation of CD4. Major thioesterase in peroxisomes. Competes with BAAT (Bile acid CoA: amino acid N-acyltransferase) for bile acid-CoA substrate (such as chenodeoxycholoyl-CoA). Shows a preference for medium-length fatty acyl-CoAs (By similarity). May be involved in the metabolic regulation of peroxisome proliferation. AF014404 ACOT8 20 20q13.12 ACOT8 HGNC:15919 true hsa:10005 NP_005460.2:NM_005469.3 Detected in a T-cell line (at protein level). Ubiquitous. Interacts with HIV-1 Nef 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 988 CDBP00987 Palmitoyl-protein thioesterase 1 P50897 PPT1_HUMAN true false Enzyme Homo_sapiens PPT1 306 34193.245 6.523 Involved in palmitoyl-(protein) hydrolase activity Removes thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation. Prefers acyl chain lengths of 14 to 18 carbons. 3GRO U44772 PPT1 1 1p32 PPT1 HGNC:9325 true hsa:5538 NP_000301.1:NM_000310.3;NP_001136076.1:NM_001142604.1 2020-06-12T23:06:53Z 2020-07-28T02:26:17Z 1 0 0 989 CDBP00988 Lysosomal thioesterase PPT2 Q9UMR5 PPT2_HUMAN true false Enzyme Homo_sapiens PPT2 302 Involved in palmitoyl-(protein) hydrolase activity Removes thioester-linked fatty acyl groups from various substrates including S-palmitoyl-CoA. Has the highest S-thioesterase activity for the acyl groups palmitic and myristic acid followed by other short- and long-chain acyl substrates. However, because of structural constraints, is unable to remove palmitate from peptides or proteins. 1PJA AF020543 2501961 PPT2 PPT2 HGNC:9326 true hsa:9374 NP_001191032.1:NM_001204103.1;NP_005146.4:NM_005155.6;NP_619731.2:NM_138717.2 Broadly expressed, with highest levels in skeletal muscle. 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 990 CDBP00989 Sphingosine-1-phosphate lyase 1 O95470 SGPL1_HUMAN true false Enzyme Homo_sapiens SGPL1 568 63523.265 9.155 Involved in carboxy-lyase activity Cleaves phosphorylated sphingoid bases (PSBs), such as sphingosine-1-phosphate, into fatty aldehydes and phosphoethanolamine. Elevates stress-induced ceramide production and apoptosis. AJ011304 10129683 SGPL1 10 10q21 SGPL1 HGNC:10817 true hsa:8879 NP_003892.2:NM_003901.3 Found in liver and kidney. Pyridoxal phosphate 2020-06-12T23:06:53Z 2020-07-28T02:26:17Z 1 0 0 991 CDBP00990 Mevalonate kinase Q03426 KIME_HUMAN true false Enzyme Homo_sapiens MVK 396 42450.475 6.459 Involved in ATP binding May be a regulatory site in cholesterol biosynthetic pathway. 2R3V M88468 MVK 12 12q24 MVK HGNC:7530 true hsa:4598 ENSG00000110921-MONOMER NP_000422.1:NM_000431.2;NP_001107657.1:NM_001114185.1 Homodimer 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 992 CDBP00991 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 O75752 B3GL1_HUMAN true false Enzyme Homo_sapiens B3GALNT1 331 39511.55 7.799 Involved in galactosyltransferase activity Transfers N-acetylgalactosamine onto globotriaosylceramide. Y15062 3256005 B3GALNT1 3 3q25 B3GALNT1 HGNC:918 true hsa:8706 NP_001033717.1:NM_001038628.1;NP_003772.1:NM_003781.3;NP_149357.1:NM_033167.2;NP_149358.1:NM_033168.2;NP_149359.1:NM_033169.2 Higher expression in heart and brain, and to a lesser extent in lung, placenta, kidney and testis. Lower expression in liver, spleen and stomach. No expression in skeletal muscle. Magnesium 2020-06-12T23:06:53Z 2020-07-28T02:26:17Z 0 0 0 993 CDBP00992 Pyridoxal kinase O00764 PDXK_HUMAN true false Enzyme Homo_sapiens PDXK 312 35102.105 6.128 Involved in pyridoxal kinase activity Required for synthesis of pyridoxal-5-phosphate from vitamin B6. 2AJP;2F7K;2YXT;2YXU;3FHX;3FHY;3KEU;4EN4;4EOH U89606 PDXK 21 21q22.3 PDXK HGNC:8819 true hsa:8566 NP_003672.1:NM_003681.4 Ubiquitous. Isoform 3 is detected in adult testis and spermatozoa. Divalent cations. Zinc is more efficient than magnesium Homodimer (Probable) 2020-06-12T23:06:53Z 2020-07-28T02:26:17Z 0 0 0 994 CDBP00993 Thiosulfate sulfurtransferase Q16762 THTR_HUMAN true false Enzyme Homo_sapiens TST 297 33428.69 7.252 Involved in thiosulfate sulfurtransferase activity Formation of iron-sulfur complexes, cyanide detoxification or modification of sulfur-containing enzymes. Other thiol compounds, besides cyanide, can act as sulfur ion acceptors. Also has weak mercaptopyruvate sulfurtransferase (MST) activity (By similarity). Together with MRPL18, acts as a mitochondrial import factor for the cytosolic 5S rRNA. Only the nascent unfolded cytoplasmic form is able to bind to the 5S rRNA. AK091874 193787227 TST 22 22q13.1 TST HGNC:12388 true hsa:7263 NP_001257412.1:NM_001270483.1;NP_003303.2:NM_003312.5 Monomer 2020-06-12T23:06:53Z 2020-07-28T02:26:17Z 0 0 0 995 CDBP00994 Sulfite oxidase, mitochondrial P51687 SUOX_HUMAN true false Enzyme Homo_sapiens SUOX 545 60282.59 6.107 Involved in heme binding 1MJ4 NM_000456.2 74099694 SUOX 12 12q13.2 SUOX HGNC:11460 true hsa:6821 HS06627-MONOMER NP_000447.2:NM_000456.2;NP_001027558.1:NM_001032386.1;NP_001027559.1:NM_001032387.1 protoheme group;Molybdenum (molybdopterin) Homodimer 2020-06-12T23:06:53Z 2020-07-28T02:26:17Z 0 1 0 996 CDBP00995 Ferrochelatase, mitochondrial P22830 HEMH_HUMAN true false Enzyme Homo_sapiens FECH 423 47861.77 8.728 Involved in ferrochelatase activity Catalyzes the ferrous insertion into protoporphyrin IX. 1HRK;2HRC;2HRE;2PNJ;2PO5;2PO7;2QD1;2QD2;2QD3;2QD4;2QD5;3AQI;3HCN;3HCO;3HCP;3HCR;4F4D NM_000140.3 60499021 FECH 18 18q21.3 FECH HGNC:3647 true hsa:2235 NP_000131.2:NM_000140.3;NP_001012533.1:NM_001012515.2 2Fe-2S cluster Homodimer 2020-06-12T23:06:53Z 2020-07-28T02:26:18Z 0 0 0 997 CDBP00996 Riboflavin kinase Q969G6 RIFK_HUMAN true false Enzyme Homo_sapiens RFK 155 17623.08 8.13 Involved in riboflavin kinase activity Catalyzes the phosphorylation of riboflavin (vitamin B2) to form flavin-mononucleotide (FMN). 1NB0;1NB9;1P4M;1Q9S NM_018339.5 269973877 RFK 9 9q21.13 RFK HGNC:30324 true hsa:55312 HS05938-MONOMER NP_060809.3:NM_018339.5 Detected in brain, placenta and urinary bladder. Zinc or magnesium Monomer 2020-06-12T23:06:53Z 2020-07-28T02:26:18Z 0 1 0 998 CDBP00997 Delta-aminolevulinic acid dehydratase P13716 HEM2_HUMAN true false Enzyme Homo_sapiens ALAD 330 36294.485 6.786 Involved in porphobilinogen synthase activity Catalyzes an early step in the biosynthesis of tetrapyrroles. Binds two molecules of 5-aminolevulinate per subunit, each at a distinct site, and catalyzes their condensation to form porphobilinogen. 1E51;1PV8 M13928 178329 ALAD 9 9q33.1 ALAD HGNC:395 true hsa:210 NP_000022.3:NM_000031.5 zinc ions per octamer. Only four zinc ions per octamer are required for full catalytic activity. Only four zinc ions per octamer are tightly bound. Can bind 2 zinc ions . The first zinc ion is important for catalysis Homooctamer; active form. Homohexamer; low activity form 2020-06-12T23:06:53Z 2020-07-28T02:26:18Z 0 1 0 999 CDBP00998 Type I iodothyronine deiodinase P49895 IOD1_HUMAN true false Enzyme Homo_sapiens DIO1 249 28924.21 8.686 Involved in thyroxine 5'-deiodinase activity Responsible for the deiodination of T4 (3,5,3',5'-tetraiodothyronine) into T3 (3,5,3'-triiodothyronine) and of T3 into T2 (3,3'-diiodothyronine). Plays a role in providing a source of plasma T3 by deiodination of T4 in peripheral tissues such as liver and kidney. S48220 DIO1 1 1p33-p32 DIO1 HGNC:2883 true hsa:1733 NP_000783.2:NM_000792.5;NP_001034804.1:NM_001039715.1;NP_001034805.1:NM_001039716.1;NP_998758.1:NM_213593.3 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 1000 CDBP00999 Type II iodothyronine deiodinase Q92813 IOD2_HUMAN true false Enzyme Homo_sapiens DIO2 273 30551.48 8.01 Involved in thyroxine 5'-deiodinase activity Responsible for the deiodination of T4 (3,5,3',5'-tetraiodothyronine) into T3 (3,5,3'-triiodothyronine). Essential for providing the brain with appropriate levels of T3 during the critical period of development. U53506 DIO2 14 14q24.2-q24.3 DIO2 HGNC:2884 true hsa:1734 HS00008-MONOMER NP_000784.2:NM_000793.5;NP_001007024.1:NM_001007023.3;NP_001229431.1:NM_001242502.1;NP_001229432.1:NM_001242503.1;NP_054644.1:NM_013989.4 Heart, skeletal muscle, placenta, fetal brain and several regions of the adult brain. Interacts with USP20 and USP33. Interacts with MARCH6 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 1001 CDBP01000 Atrial natriuretic peptide receptor 2 P20594 ANPRB_HUMAN false false Receptor Homo_sapiens NPR2 1047 117020.97 6.87 Involved in phosphorus-oxygen lyase activity Receptor for the C-type natriuretic peptide NPPC/CNP hormone. Has guanylate cyclase activity upon binding of its ligand. May play a role in the regulation of skeletal growth. AB005647 5139790 NPR2 9 9p21-p12 NPR2 HGNC:7944 true hsa:4882 NP_003986.2:NM_003995.3 2020-06-12T23:06:53Z 2020-07-28T02:26:18Z 1 0 0 1002 CDBP01001 Guanylate cyclase soluble subunit beta-1 Q02153 GCYB1_HUMAN true false Enzyme Homo_sapiens GUCY1B3 619 70513.89 5.355 Involved in phosphorus-oxygen lyase activity 2WZ1;3UVJ NM_000857.2 4504215 GUCY1B3 4 4q31.3-q33 GUCY1B3 HGNC:4687 true hsa:2983 NP_000848.1:NM_000857.2 or 2 heme groups per heterodimer Heterodimer of an alpha and a beta chain 2020-06-12T23:06:53Z 2020-07-28T02:26:18Z 1 1 0 1003 CDBP01002 Retinal guanylyl cyclase 1 Q02846 GUC2D_HUMAN true false Enzyme Homo_sapiens GUCY2D 1103 120057.18 7.45 Involved in phosphorus-oxygen lyase activity Probably plays a specific functional role in the rods and/or cones of photoreceptors. It may be the enzyme involved in the resynthesis of cGMP required for recovery of the dark state after phototransduction. 1AWL AJ222657 2695890 GUCY2D 17 17p13.1 GUCY2D HGNC:4689 true hsa:3000 NP_000171.1:NM_000180.3 Retina. Localized exclusively in the nuclei and inner segments of the rod and cone photoreceptor cells. 2020-06-12T23:06:53Z 2020-07-28T02:26:18Z 1 0 0 1004 CDBP01003 Guanylate cyclase soluble subunit alpha-3 Q02108 GCYA3_HUMAN true false Enzyme Homo_sapiens GUCY1A3 690 77451.825 7.112 Involved in phosphorus-oxygen lyase activity 3UVJ BC028384 20306359 GUCY1A3 4 4q31.1-q31.2 GUCY1A3 HGNC:4685 true hsa:2982 NP_000847.2:NM_000856.5;NP_001124154.1:NM_001130682.2;NP_001124155.1:NM_001130683.3;NP_001124156.1:NM_001130684.2;NP_001243378.1:NM_001256449.1 Heterodimer of an alpha and a beta chain 2020-06-12T23:06:53Z 2020-07-28T02:26:18Z 1 1 0 1005 CDBP01004 Atrial natriuretic peptide receptor 1 P16066 ANPRA_HUMAN false false Receptor Homo_sapiens NPR1 1061 118918.11 6.635 Involved in phosphorus-oxygen lyase activity Receptor for the atrial natriuretic peptide NPPA/ANP and the brain natriuretic peptide NPPB/BNP which are potent vasoactive hormones playing a key role in cardiovascular homeostasis. Has guanylate cyclase activity upon binding of the ligand. AB010491 3297986 NPR1 1 1q21-q22 NPR1 HGNC:7943 true hsa:4881 NP_000897.3:NM_000906.3 Homodimer 2020-06-12T23:06:53Z 2020-07-28T02:26:18Z 1 0 0 1006 CDBP01005 Heat-stable enterotoxin receptor P25092 GUC2C_HUMAN false false Receptor Homo_sapiens GUCY2C 1073 123401.73 7.168 Involved in phosphorus-oxygen lyase activity Receptor for the E.coli heat-stable enterotoxin (E.coli enterotoxin markedly stimulates the accumulation of cGMP in mammalian cells expressing GC-C). Also activated by the endogenous peptide guanylin. NM_004963.3 222080083 GUCY2C 12 12p12 GUCY2C HGNC:4688 true hsa:2984 NP_004954.2:NM_004963.3 Homotrimer. Interacts via its C-terminal region with PDZK2 2020-06-12T23:06:53Z 2020-07-28T02:26:19Z 1 0 0 1007 CDBP01006 Inorganic pyrophosphatase Q15181 IPYR_HUMAN true false Enzyme Homo_sapiens PPA1 289 32659.77 5.858 Involved in magnesium ion binding AF154065 PPA1 10 10q11.1-q24 PPA1 HGNC:9226 true hsa:5464 NP_066952.1:NM_021129.3 Expressed ubiquitously. magnesium ions . Other metal ions can support activity, but at a lower rate. Two magnesium ions are required for the activation of the enzyme and are present before substrate binds, two additional magnesium ions form complexes with substrate and product Homodimer 2020-06-12T23:06:53Z 2020-07-28T02:26:19Z 0 1 0 1008 CDBP01007 Guanylate cyclase soluble subunit alpha-2 P33402 GCYA2_HUMAN true false Enzyme Homo_sapiens GUCY1A2 732 81749.185 7.672 Involved in phosphorus-oxygen lyase activity Has guanylyl cyclase on binding to the beta-1 subunit. Isoform 2 acts as a negative regulator of guanylyl cyclase activity as it forms non-functional heterodimers with the beta subunits. BC130484 120659898 GUCY1A2 11 11q21-q22 GUCY1A2 HGNC:4684 true hsa:2977 NP_000846.1:NM_000855.2;NP_001243353.1:NM_001256424.1 Isoform 1 is expressed in fetal brain, liver, colon, endothelium and testis. Isoform 2 is expressed only in liver, colon and endothelium. Heterodimer of an alpha and a beta chain 2020-06-12T23:06:53Z 2020-07-28T02:26:19Z 0 1 0 1009 CDBP01008 UTP--glucose-1-phosphate uridylyltransferase Q16851 UGPA_HUMAN true false Enzyme Homo_sapiens UGP2 508 55676.36 7.891 Involved in nucleotidyltransferase activity Plays a central role as a glucosyl donor in cellular metabolic pathways. 3R2W;3R3I BC000173 112180805 UGP2 2 2p14-p13 UGP2 HGNC:12527 true hsa:7360 HS10006-MONOMER NP_001001521.1:NM_001001521.1;NP_006750.3:NM_006759.3 Homooctamer 2020-06-12T23:06:53Z 2020-07-28T02:26:19Z 0 1 0 1010 CDBP01009 DNA nucleotidylexotransferase P04053 TDT_HUMAN true false Enzyme Homo_sapiens DNTT 509 58407.595 8.42 Involved in DNA binding Template-independent DNA polymerase which catalyzes the random addition of deoxynucleoside 5'-triphosphate to the 3'-end of a DNA initiator. One of the in vivo functions of this enzyme is the addition of nucleotides at the junction (N region) of rearranged Ig heavy chain and T-cell receptor gene segments during the maturation of B- and T-cells. 2COE AB046378 16923263 DNTT 10 10q23-q24 DNTT HGNC:2983 true hsa:1791 NP_001017520.1:NM_001017520.1;NP_004079.3:NM_004088.3 Magnesium Interacts with PRP19 and DNTTIP1. Forms a ternary complex with DNTTIP2 and core histone. Released from this complex by PCNA 2020-06-12T23:06:53Z 2020-07-28T02:26:19Z 0 1 0 1011 CDBP01010 Retinal guanylyl cyclase 2 P51841 GUC2F_HUMAN true false Enzyme Homo_sapiens GUCY2F 1108 124848.965 7.274 Involved in phosphorus-oxygen lyase activity Probably plays a specific functional role in the rods and/or cones of photoreceptors. It may be the enzyme involved in the resynthesis of cGMP required for recovery of the dark state after phototransduction. AL031387 4680397 GUCY2F X Xq22 GUCY2F HGNC:4691 true hsa:2986 NP_001513.2:NM_001522.2 Retina. Localized exclusively in the outer nuclear layer and inner segments of the rod and cone photoreceptor cells. 2020-06-12T23:06:53Z 2020-07-28T02:26:19Z 1 0 0 1012 CDBP01011 Guanylate cyclase soluble subunit beta-2 O75343 GCYB2_HUMAN true false Enzyme Homo_sapiens GUCY1B2 617 Involved in phosphorus-oxygen lyase activity AF038499 8081019 GUCY1B2 GUCY1B2 HGNC:4686 true or 2 heme groups per heterodimer Heterodimer of an alpha and a beta chain 2020-06-12T23:06:53Z 2020-07-28T02:26:19Z 0 1 0 1013 CDBP01012 Poly(A) polymerase alpha P51003 PAPOA_HUMAN true false Enzyme Homo_sapiens PAPOLA 745 32625.6 7.728 Involved in nucleotidyltransferase activity Polymerase that creates the 3'-poly(A) tail of mRNA's. Also required for the endoribonucleolytic cleavage reaction at some polyadenylation sites. May acquire specificity through interaction with a cleavage and polyadenylation specificity factor (CPSF) at its C-terminus. NM_032632.3 32490557 PAPOLA 14 14q32.31 PAPOLA HGNC:14981 true hsa:10914 NP_001238935.1:NM_001252006.1;NP_001238936.1:NM_001252007.1;NP_116021.2:NM_032632.4 magnesium ions. Also active with manganese Monomer. Found in a complex with CPSF1, FIP1L1 and PAPOLA. Interacts with FIP1L1 . Interacts with NUDT21; the interaction is diminished by acetylation. Interacts with KPNB1; the interaction promotes PAP nuclear import and is inhibited by acetylation of PAP (By similarity) 2020-06-12T23:06:53Z 2020-07-28T02:26:19Z 0 0 1 1014 CDBP01013 UDP-N-acetylhexosamine pyrophosphorylase Q16222 UAP1_HUMAN true false Enzyme Homo_sapiens UAP1 522 57027.91 6.375 Involved in nucleotidyltransferase activity Converts UDP and GlcNAc-1-P into UDP-GlcNAc, and UDP and GalNAc-1-P into UDP-GalNAc. Isoform AGX1 has 2 to 3 times higher activity towards GalNAc-1-P, while isoform AGX2 has 8 times more activity towards GlcNAc-1-P. 1JV1;1JV3;1JVD;1JVG NM_003115 156627575 UAP1 1 1q23.3 UAP1 HGNC:12457 true hsa:6675 NP_003106.3:NM_003115.4 Widely expressed. Isoform AGX1 is more abundant in testis than isoform AGX2, while isoform AGX2 is more abundant than isoform AGX1 in somatic tissue. Expressed at low level in placenta, muscle and liver. Monomer and homodimer. Isoform AGX1 is a homodimer. Isoform AGX2 is a monomer 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 1015 CDBP01014 mRNA-capping enzyme O60942 MCE1_HUMAN false false Transcription Factor Homo_sapiens RNGTT 597 68556.21 8.137 Involved in phosphatase activity Bifunctional mRNA-capping enzyme exhibiting RNA 5'-triphosphatase activity in the N-terminal part and mRNA guanylyltransferase activity in the C-terminal part. Catalyzes the first two steps of cap formation: by removing the gamma-phosphate from the 5'-triphosphate end of nascent mRNA to yield a diphosphate end, and by transferring the gmp moiety of GTP to the 5'-diphosphate terminus. 2C46;3S24 AB009022 3097308 RNGTT 6 6q16 RNGTT HGNC:10073 true hsa:8732 NP_003791.3:NM_003800.3 Isoform 1 and isoform 4 (at a lesser extent) are expressed in cerebrum, cerebellum, thyroid, lung, heart, liver, kidney, spleen, large intestine, testis, skin and muscle. Interacts with SUPT5H and RNMT. Interacts with HIV-1 Tat 2020-06-12T23:06:53Z 2020-07-28T02:32:06Z 0 0 1 1016 CDBP01015 Poly(A) polymerase gamma Q9BWT3 PAPOG_HUMAN true false Enzyme Homo_sapiens PAPOLG 736 82801.935 9.149 Involved in nucleotidyltransferase activity Responsible for the post-transcriptional adenylation of the 3'-terminal of mRNA precursors and several small RNAs including signal recognition particle (SRP) RNA, nuclear 7SK RNA, U2 small nuclear RNA, and ribosomal 5S RNA. AF312211 15080911 PAPOLG 2 2p16.1 PAPOLG HGNC:14982 true hsa:64895 NP_075045.2:NM_022894.3 Expressed predominantly in testis, and weakly in other tissues. Overexpressed in several tumors. magnesium ions. Also active with manganese 2020-06-12T23:06:53Z 2020-07-28T02:26:19Z 0 1 1 1017 CDBP01016 Sphingosine kinase 1 Q9NYA1 SPHK1_HUMAN true false Enzyme Homo_sapiens SPHK1 384 42517.245 7.115 Involved in diacylglycerol kinase activity Catalyzes the phosphorylation of sphingosine to form sphingosine 1-phosphate (SPP), a lipid mediator with both intra- and extracellular functions. Also acts on D-erythro-sphingosine and to a lesser extent sphinganine, but not other lipids, such as D,L-threo-dihydrosphingosine, N,N-dimethylsphingosine, diacylglycerol, ceramide, or phosphatidylinositol. AF200328 9909361 SPHK1 17 17q25.2 SPHK1 HGNC:11240 true hsa:8877 NP_001136073.1:NM_001142601.1;NP_001136074.1:NM_001142602.1;NP_068807.2:NM_021972.3;NP_892010.2:NM_182965.2 Widely expressed with highest levels in adult liver, kidney, heart and skeletal muscle. Magnesium Interacts with ACY1 . Binds to calmodulin. Interacts with SPHKAP 2020-06-12T23:06:53Z 2020-07-28T02:26:19Z 1 0 1 1018 CDBP01017 Sphingosine kinase 2 Q9NRA0 SPHK2_HUMAN true false Enzyme Homo_sapiens SPHK2 654 69216.375 6.945 Involved in diacylglycerol kinase activity Catalyzes the phosphorylation of sphingosine to form sphingosine 1-phosphate (SPP), a lipid mediator with both intra- and extracellular functions. Also acts on D-erythro-dihydrosphingosine, D-erythro-sphingosine and L-threo-dihydrosphingosine. Binds phosphoinositides. NM_020126.3 21361699 SPHK2 19 19q13.2 SPHK2 HGNC:18859 true hsa:56848 NP_001191088.1:NM_001204159.2;NP_001191089.1:NM_001204160.2;NP_064511.2:NM_020126.4 Magnesium 2020-06-12T23:06:53Z 2020-07-28T02:26:20Z 1 0 0 1019 CDBP01018 Acid ceramidase Q13510 ASAH1_HUMAN true false Enzyme Homo_sapiens ASAH1 395 44045.27 7.616 Involved in lipid metabolic process Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid. NM_177924.3 189011548 ASAH1 8 8p22 ASAH1 HGNC:735 true hsa:427 NP_001120977.1:NM_001127505.1;NP_004306.3:NM_004315.4;NP_808592.2:NM_177924.3 Broadly expressed with highest expression in heart. Heterodimer of one alpha and one beta subunit 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 1020 CDBP01019 Beta-enolase P13929 ENOB_HUMAN true false Enzyme Homo_sapiens ENO3 434 42248.03 7.97 Involved in magnesium ion binding Appears to have a function in striated muscle development and regeneration. 2XSX X16504 31170 ENO3 17 17pter-p11 ENO3 HGNC:3354 true hsa:2027 NP_001180432.1:NM_001193503.1;NP_001967.3:NM_001976.4;NP_443739.3:NM_053013.3 The alpha/alpha homodimer is expressed in embryo and in most adult tissues. The alpha/beta heterodimer and the beta/beta homodimer are found in striated muscle, and the alpha/gamma heterodimer and the gamma/gamma homodimer in neurons. Magnesium. Required for catalysis and for stabilizing the dimer Mammalian enolase is composed of 3 isozyme subunits, alpha, beta and gamma, which can form homodimers or heterodimers which are cell-type and development-specific. Interacts with PNKD 2020-06-12T23:06:53Z 2020-07-28T02:26:20Z 0 1 0 1021 CDBP01020 Gamma-enolase P09104 ENOG_HUMAN true false Enzyme Homo_sapiens ENO2 434 47268.125 5.029 Involved in magnesium ion binding Has neurotrophic and neuroprotective properties on a broad spectrum of central nervous system (CNS) neurons. Binds, in a calcium-dependent manner, to cultured neocortical neurons and promotes cell survival (By similarity). 1TE6;2AKM;2AKZ;3UCC;3UCD;3UJE;3UJF;3UJR;3UJS X13120 930063 ENO2 12 12p13 ENO2 HGNC:3353 true hsa:2026 NP_001966.1:NM_001975.2 The alpha/alpha homodimer is expressed in embryo and in most adult tissues. The alpha/beta heterodimer and the beta/beta homodimer are found in striated muscle, and the alpha/gamma heterodimer and the gamma/gamma homodimer in neurons. Magnesium. Required for catalysis and for stabilizing the dimer Mammalian enolase is composed of 3 isozyme subunits, alpha, beta and gamma, which can form homodimers or heterodimers which are cell-type and development-specific 2020-06-12T23:06:53Z 2020-07-28T02:26:20Z 1 1 0 1022 CDBP01021 Alpha-enolase P06733 ENOA_HUMAN true false Enzyme Homo_sapiens ENO1 434 36927.84 6.278 Involved in magnesium ion binding Multifunctional enzyme that, as well as its role in glycolysis, plays a part in various processes such as growth control, hypoxia tolerance and allergic responses. May also function in the intravascular and pericellular fibrinolytic system due to its ability to serve as a receptor and activator of plasminogen on the cell surface of several cell-types such as leukocytes and neurons. Stimulates immunoglobulin production. MBP1 binds to the myc promoter and acts as a transcriptional repressor. May be a tumor suppressor. 2PSN;3B97 NM_001428.2 4503571 ENO1 1 1p36.2 ENO1 HGNC:3350 true hsa:2023 NP_001188412.1:NM_001201483.1;NP_001419.1:NM_001428.3 The alpha/alpha homodimer is expressed in embryo and in most adult tissues. The alpha/beta heterodimer and the beta/beta homodimer are found in striated muscle, and the alpha/gamma heterodimer and the gamma/gamma homodimer in neurons. Magnesium. Required for catalysis and for stabilizing the dimer Mammalian enolase is composed of 3 isozyme subunits, alpha, beta and gamma, which can form homodimers or heterodimers which are cell-type and development-specific. ENO1 interacts with PLG in the neuronal plasma membrane and promotes its activation. The C-terminal lysine is required for this binding 2020-06-12T23:06:53Z 2020-07-28T02:26:20Z 0 1 1 1023 CDBP01022 Ribokinase Q9H477 RBSK_HUMAN true false Enzyme Homo_sapiens RBKS 322 34142.685 5.045 Involved in ribokinase activity 2FV7 AJ404857 10799803 RBKS 2 2p23.3 RBKS HGNC:30325 true hsa:64080 NP_071411.1:NM_022128.1 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 1024 CDBP01023 Ectonucleotide pyrophosphatase/phosphodiesterase family member 7 Q6UWV6 ENPP7_HUMAN true false Enzyme Homo_sapiens ENPP7 458 51493.415 6.883 Involved in catalytic activity Converts sphingomyelin to ceramide. Also has phospholipase C activity toward palmitoyl lyso-phosphocholine. Does not appear to have nucleotide pyrophosphatase activity. NM_178543.3 45545421 ENPP7 17 17q25.3 ENPP7 HGNC:23764 true hsa:339221 NP_848638.2:NM_178543.3 Detected in the colon (at protein level). Expressed in the duodenum, jejunum and liver and at low levels in the ileum. Expression was very low in the esophagus, stomach and colon. 2020-06-12T23:06:53Z 2020-07-28T02:26:20Z 0 0 0 1025 CDBP01024 Sphingomyelin phosphodiesterase 2 O60906 NSMA_HUMAN true false Enzyme Homo_sapiens SMPD2 423 47645.29 6.975 Involved in metal ion binding Converts sphingomyelin to ceramide. Hydrolyze 1-acyl-2-lyso-sn-glycero-3-phosphocholine (lyso-PC) and 1-O-alkyl-2-lyso-sn-glycero-3-phosphocholine (lyso-platelet-activating factor). The physiological substrate seems to be Lyso-PAF. AJ222801 3021428 SMPD2 6 6q21 SMPD2 HGNC:11121 true hsa:6610 NP_003071.2:NM_003080.2 Magnesium 2020-06-12T23:06:53Z 2020-07-28T02:26:20Z 1 1 0 1026 CDBP01025 Glycogen [starch] synthase, liver P54840 GYS2_HUMAN true false Enzyme Homo_sapiens GYS2 703 80988.42 6.825 Involved in glycogen (starch) synthase activity Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan. NM_021957.3 119372286 GYS2 12 12p12.2 GYS2 HGNC:4707 true hsa:2998 NP_068776.2:NM_021957.3 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 1027 CDBP01026 Galactose-1-phosphate uridylyltransferase P07902 GALT_HUMAN true false Enzyme Homo_sapiens GALT 379 43362.83 6.99 Involved in UDP-glucose:hexose-1-phosphate uridylyltransferase activity 1R3A AL162231 55663283 GALT 9 9p13 GALT HGNC:4135 true hsa:2592 NP_000146.2:NM_000155.3 iron ion;zinc ion Homodimer (Probable) 2020-06-12T23:06:53Z 2020-07-28T02:26:20Z 0 1 0 1028 CDBP01027 Glycogenin-1 P46976 GLYG_HUMAN false false Metal Binding Homo_sapiens GYG1 350 37478.2 5.397 Involved in transferase activity, transferring glycosyl groups Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase. 3Q4S;3QVB;3RMV;3RMW;3T7M;3T7N;3T7O;3U2T;3U2U;3U2V;3U2W;3U2X NM_004130.3 20127457 GYG1 3 3q24-q25.1 GYG1 HGNC:4699 true hsa:2992 HS08931-MONOMER NP_001171649.1:NM_001184720.1;NP_001171650.1:NM_001184721.1;NP_004121.2:NM_004130.3 Divalent metal ions. Required for self-glucosylation. Manganese is the most effective Homodimer tightly complexed to the 86 kDa catalytic subunit of glycogen synthase GYS1 2020-06-12T23:06:53Z 2020-07-28T02:31:56Z 0 1 0 1029 CDBP01028 Glycogen [starch] synthase, muscle P13807 GYS1_HUMAN true false Enzyme Homo_sapiens GYS1 737 76482.48 6.537 Involved in glycogen (starch) synthase activity Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan. BC002617 12803569 GYS1 19 19q13.3 GYS1 HGNC:4706 true hsa:2997 HS02622-MONOMER NP_001155059.1:NM_001161587.1;NP_002094.2:NM_002103.4 Interacts with GYG1 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 1030 CDBP01029 Glycogenin-2 O15488 GLYG2_HUMAN false false Enzyme Homo_sapiens GYG2 501 51998.955 5.072 Involved in transferase activity, transferring glycosyl groups Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase. NM_003918.2 119964690 GYG2 X Xp22.3 GYG2 HGNC:4700 true hsa:8908 HS00703-MONOMER NP_001073324.1:NM_001079855.1;NP_001171631.1:NM_001184702.1;NP_001171632.1:NM_001184703.1;NP_001171633.1:NM_001184704.1;NP_003909.2:NM_003918.2 Expressed preferentially in liver, heart, and pancreas. Divalent metal ions. Required for self-glucosylation. Manganese is the most effective Homodimer, tightly complexed to glycogen synthase 2020-06-12T23:06:53Z 2020-07-28T02:33:27Z 0 0 0 1031 CDBP01030 UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase Q9H3H5 GPT_HUMAN true false Enzyme Homo_sapiens DPAGT1 408 46089.485 7.997 Involved in phospho-N-acetylmuramoyl-pentapeptide-transferase activity Catalyzes the initial step in the synthesis of dolichol-P-P-oligosaccharides. AF070443 12002052 DPAGT1 11 11q23.3 DPAGT1 HGNC:2995 true hsa:1798 NP_001373.2:NM_001382.3 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 1032 CDBP01031 Uridine diphosphate glucose pyrophosphatase O95848 NUD14_HUMAN true false Enzyme Homo_sapiens NUDT14 222 24118.085 5.049 Involved in hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides Hydrolyzes UDP-glucose to glucose 1-phosphate and UMP and ADP-ribose to ribose 5-phosphate and AMP. The physiological substrate is probably UDP-glucose. Poor activity on other substrates such as ADP-glucose, CDP-glucose, GDP-glucose and GDP-mannose. 3Q91 AB087802 NUDT14 14 14q32.33 NUDT14 HGNC:20141 true hsa:256281 NP_803877.2:NM_177533.4 Magnesium Homodimer 2020-06-12T23:06:53Z 2020-07-28T02:26:20Z 0 1 0 1033 CDBP01032 tRNA pseudouridine synthase A, mitochondrial Q9Y606 TRUA_HUMAN true false Enzyme Homo_sapiens PUS1 427 47469.7 8.54 Involved in RNA binding Converts specific uridines to PSI in a number of tRNA substrates. Acts on positions 27/28 in the anticodon stem and also positions 34 and 36 in the anticodon of an intron containing tRNA. Involved in regulation of nuclear receptor activity possibly through pseudouridylation of SRA1 RNA ["None"] ["None"] NM_025215.5 70166645 PUS1 Chromosome:1 12q24.33 PUS1 HGNC:15508 true 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 1034 CDBP01033 Beta-1,4-galactosyltransferase 5 O43286 B4GT5_HUMAN true false Enzyme Homo_sapiens B4GALT5 388 45118.2 8.29 Involved in transferase activity, transferring glycosyl groups Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids ["None"] ["15-35"] AB004550 B4GALT5 Chromosome:2 20q13.1-q13.2 B4GALT5 HGNC:928 true 2020-06-12T23:06:53Z 2020-07-28T02:26:21Z 0 0 0 1035 CDBP01034 Histo-blood group ABO system transferase P16442 BGAT_HUMAN true false Enzyme Homo_sapiens ABO 354 40933.555 8.989 Involved in transferase activity, transferring hexosyl groups This protein is the basis of the ABO blood group system. The histo-blood group ABO involves three carbohydrate antigens: A, B, and H. A, B, and AB individuals express a glycosyltransferase activity that converts the H antigen to the A antigen (by addition of UDP-GalNAc) or to the B antigen (by addition of UDP-Gal), whereas O individuals lack such activity. 1LZ0;1LZ7;1LZI;1LZJ;1R7T;1R7U;1R7V;1R7X;1R7Y;1R80;1R81;1R82;1WSZ;1WT0;1WT1;1WT2;1WT3;1XZ6;1ZHJ;1ZI1;1ZI3;1ZI4;1ZI5;1ZIZ;1ZJ0;1ZJ1;1ZJ2;1ZJ3;1ZJO;1ZJP;2A8U;2A8W;2I7B;2O1F;2O1G;2O1H;2PGV;2PGY;2RIT;2RIX;2RIY;2RIZ;2RJ0;2RJ1;2RJ4;2RJ5;2RJ6;2RJ7;2RJ8;2RJ9;2Y7A;3I0C;3I0D;3I0E;3I0F;3I0G;3I0H;3I0I;3I0J;3I0K;3I0L;3IOH;3IOI;3IOJ;3SX3;3SX5;3SX7;3SX8;3SXA;3SXB;3SXC;3SXD;3SXE;3SXG;3U0X;3U0Y NM_020469.2 58331216 ABO 9 9q34.2 ABO HGNC:79 true hsa:28 NP_065202.2:NM_020469.2 manganese ion 2020-06-12T23:06:53Z 2020-07-28T02:26:21Z 0 1 0 1036 CDBP01035 2-hydroxyacylsphingosine 1-beta-galactosyltransferase Q16880 CGT_HUMAN true false Enzyme Homo_sapiens UGT8 541 61455.31 9.526 Involved in transferase activity, transferring hexosyl groups Catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central nervous system and peripheral nervous system. NM_001128174.1 189491660 UGT8 4 4q26 UGT8 HGNC:12555 true hsa:7368 NP_001121646.1:NM_001128174.1;NP_003351.2:NM_003360.3 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 1037 CDBP01036 Beta-1,3-galactosyltransferase 4 O96024 B3GT4_HUMAN true false Enzyme Homo_sapiens B3GALT4 378 41536.435 8.308 Involved in galactosyltransferase activity Involved in GM1/GD1B/GA1 ganglioside biosynthesis. AB026730 6683014 B3GALT4 6 6p21.3 B3GALT4 HGNC:919 true hsa:8705 NP_003773.1:NM_003782.3 Highly expressed in heart, skeletal muscle and pancreas and, to a lesser extent, in brain, placenta, kidney, liver and lung. 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 1038 CDBP01037 Chondroitin sulfate synthase 3 Q70JA7 CHSS3_HUMAN true false Enzyme Homo_sapiens CHSY3 882 100283.535 8.747 Involved in transferase activity, transferring hexosyl groups Has both beta-1,3-glucuronic acid and beta-1,4-N-acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer. Specific activity is much reduced compared to CHSY1. AB086062 37573674 CHSY3 5 5q23.3 CHSY3 HGNC:24293 true hsa:337876 HS11959-MONOMER NP_787052.3:NM_175856.4 Detected at low levels in brain, cerebral cortex, uterus and small intestine. Divalent cations. Highest activities are measured with cobalt, manganese and cadmium 2020-06-12T23:06:53Z 2020-07-28T02:26:21Z 0 1 0 1039 CDBP01038 Chondroitin sulfate synthase 2 Q8IZ52 CHSS2_HUMAN true false Enzyme Homo_sapiens CHPF 775 68367.94 6.413 Involved in transferase activity, transferring hexosyl groups Has both beta-1,3-glucuronic acid and beta-1,4-N-acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer. AB086063 33456982 CHPF 2 2q35 CHPF HGNC:24291 true hsa:79586 HS13103-MONOMER NP_001182660.1:NM_001195731.1;NP_078812.2:NM_024536.5 Ubiquitous. Highly expressed in pancreas, ovary, brain, heart, skeletal muscle, colon, kidney, liver, stomach, small intestine and placenta. Divalent cations. Highest activities are measured with manganese. Can also utilize cobalt Binds CHSY1 2020-06-12T23:06:53Z 2020-07-28T02:26:21Z 0 1 0 1040 CDBP01039 Chondroitin sulfate synthase 1 Q86X52 CHSS1_HUMAN true false Enzyme Homo_sapiens CHSY1 802 91783.785 9.238 Involved in transferase activity, transferring hexosyl groups Has both beta-1,3-glucuronic acid and beta-1,4-N-acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer. Involved in the negative control of osteogenesis likely through the modulation of NOTCH signaling. NM_014918.4 31542309 CHSY1 15 15q26.3 CHSY1 HGNC:17198 true hsa:22856 HS13400-MONOMER NP_055733.2:NM_014918.4 Ubiquitous, with the highest levels in placenta. Detected at low levels in brain, heart, skeletal muscle, colon, thymus, spleen, kidney, liver, adrenal gland, mammary gland, stomach, small intestine, lung and peripheral blood leukocytes. Divalent cations. Highest activities are measured with cobalt, manganese and cadmium Binds CHPF 2020-06-12T23:06:53Z 2020-07-28T02:26:21Z 0 1 0 1041 CDBP01040 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial Q9NX14 NDUBB_HUMAN true false Enzyme Homo_sapiens NDUFB11 153 17316.5 4.86 Involved in electron transport chain Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone ["None"] ["89-109"] AF044213 16930809 NDUFB11 NDUFB11 HGNC:20372 true 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 1042 CDBP01041 Phosphoglucomutase-1 P36871 PGM1_HUMAN true false Enzyme Homo_sapiens PGM1 562 63789.985 5.827 Involved in intramolecular transferase activity, phosphotransferases This enzyme participates in both the breakdown and synthesis of glucose. M83088 189926 PGM1 1 1p31 PGM1 HGNC:8905 true hsa:5236 HS01335-MONOMER NP_001166289.1:NM_001172818.1;NP_001166290.1:NM_001172819.1;NP_002624.2:NM_002633.2 magnesium ion Monomer 2020-06-12T23:06:53Z 2020-07-28T02:26:21Z 0 1 0 1043 CDBP01042 Monocarboxylate transporter 3 O95907 MOT3_HUMAN true true Enzyme Homo_sapiens SLC16A8 504 52318.2 5.32 Involved in transmembrane transport Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate ["None"] ["15-35", "59-79", "86-106", "116-136", "144-164", "173-193", "255-275", "290-310", "319-335", "343-363", "377-397", "411-431"] AF132610 6103363 SLC16A8 Chromosome:2 22q12.3-q13.2 SLC16A8 HGNC:16270 true 2020-06-12T23:06:53Z 2020-07-28T02:26:21Z 0 0 0 1044 CDBP01043 Monocarboxylate transporter 4 O15427 MOT4_HUMAN false true Transporter Homo_sapiens SLC16A3 465 49468.9 8.03 Involved in transmembrane transport Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate ["None"] ["18-38", "62-82", "85-105", "110-130", "150-170", "180-200", "228-248", "265-285", "295-315", "318-338", "352-372", "385-405"] U81800 SLC16A3 Chromosome:1 17q25 SLC16A3 HGNC:10924 true 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 1045 CDBP01044 Monocarboxylate transporter 7 O15403 MOT7_HUMAN true false Enzyme Homo_sapiens SLC16A6 523 57392.8 7.88 Involved in transmembrane transport Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate ["None"] ["22-42", "63-83", "92-112", "119-139", "150-170", "185-205", "300-320", "331-351", "359-379", "382-402", "424-444", "453-473"] BC064832 40675572 SLC16A6 Chromosome:1 17q24.2 SLC16A6 HGNC:10927 true 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 1046 CDBP01045 Monocarboxylate transporter 1 P53985 MOT1_HUMAN false true Transporter Homo_sapiens SLC16A1 500 53957.7 8.82 Involved in transmembrane transport Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate ["None"] ["16-36", "60-80", "87-107", "112-132", "144-164", "167-187", "263-283", "299-319", "329-349", "354-374", "390-410", "423-443"] L31801 561722 SLC16A1 Chromosome:1 1p12 SLC16A1 HGNC:10922 true 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 1047 CDBP01046 Monocarboxylate transporter 8 P36021 MOT8_HUMAN false true Transporter Homo_sapiens SLC16A2 539 59510.9 5.32 Involved in transmembrane transport Very active and specific thyroid hormone transporter. Stimulates cellular uptake of thyroxine (T4), triiodothyronine (T3), reverse triiodothyronine (rT3) and diidothyronine. Does not transport Leu, Phe, Trp or Tyr ["None"] ["97-117", "144-164", "172-192", "201-221", "230-250", "259-279", "323-343", "357-377", "387-407", "410-430", "448-468", "478-498"] AB085789 31076331 SLC16A2 SLC16A2 HGNC:10923 true 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 1048 CDBP01047 Monocarboxylate transporter 6 O15375 MOT6_HUMAN true true Enzyme Homo_sapiens SLC16A5 505 54993.0 8.28 Involved in transmembrane transport Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate ["None"] ["18-38", "54-74", "81-101", "111-131", "138-158", "172-192", "240-260", "275-295", "306-326", "330-350", "368-388", "397-417"] U59299 SLC16A5 Chromosome:1 17q25.1 SLC16A5 HGNC:10926 true 2020-06-12T23:06:53Z 2020-07-28T02:26:21Z 0 0 0 1049 CDBP01048 Monocarboxylate transporter 5 O15374 MOT5_HUMAN true false Enzyme Homo_sapiens SLC16A4 487 54021.4 8.13 Involved in transmembrane transport Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate ["None"] ["17-37", "60-80", "88-108", "110-129", "144-164", "175-195", "300-320", "338-358", "373-393", "395-415", "426-446", "459-479"] U59185 SLC16A4 Chromosome:1 1p13.3 SLC16A4 HGNC:10925 true 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 1050 CDBP01049 Monocarboxylate transporter 2 O60669 MOT2_HUMAN false true Transporter Homo_sapiens SLC16A7 478 52185.7 9.68 Involved in transmembrane transport Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate. MCT2 is a high affinity pyruvate transporter ["None"] ["16-36", "60-80", "90-110", "116-136", "149-169", "174-194", "247-267", "283-303", "313-333", "339-359", "374-394", "407-427"] AF058056 SLC16A7 Chromosome:1 12q13 SLC16A7 HGNC:10928 true 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 1051 CDBP01050 Mitochondrial 2-oxoglutarate/malate carrier protein Q02978 M2OM_HUMAN true true Enzyme Homo_sapiens SLC25A11 314 34061.405 9.908 Involved in transporter activity Catalyzes the transport of 2-oxoglutarate across the inner mitochondrial membrane in an electroneutral exchange for malate or other dicarboxylic acids, and plays an important role in several metabolic processes, including the malate-aspartate shuttle, the oxoglutarate/isocitrate shuttle, in gluconeogenesis from lactate, and in nitrogen metabolism. AF070548 3387911 SLC25A11 17 17p13.3 SLC25A11 HGNC:10981 true hsa:8402 NP_003553.2:NM_003562.4 2020-06-12T23:06:53Z 2020-07-28T02:26:21Z 0 0 0 1052 CDBP01051 Peptide deformylase, mitochondrial Q9HBH1 DEFM_HUMAN true false Enzyme Homo_sapiens PDF 243 27013.25 9.152 Involved in iron ion binding Removes the formyl group from the N-terminal Met of newly synthesized proteins (By similarity). 3G5K;3G5P AF239156 PDF 16 16q22.1 PDF HGNC:30012 true hsa:64146 NP_071736.1:NM_022341.1 Ubiquitous. Fe(2+) ion 2020-06-12T23:06:53Z 2020-07-28T02:26:22Z 0 1 0 1053 CDBP01052 Inositol monophosphatase 2 O14732 IMPA2_HUMAN true false Enzyme Homo_sapiens IMPA2 288 31320.525 6.61 Involved in inositol or phosphatidylinositol phosphatase activity Can use myo-inositol monophosphates, scylloinositol 1,4-diphosphate, glucose-1-phosphate, beta-glycerophosphate, and 2'-AMP as substrates. Has been implicated as the pharmacological target for lithium Li(+) action in brain. 2CZH;2CZI;2CZK;2DDK;2FVZ AF014398 2406666 IMPA2 18 18p11.2 IMPA2 HGNC:6051 true hsa:3613 HS06822-MONOMER NP_055029.1:NM_014214.2 Magnesium Homodimer 2020-06-12T23:06:53Z 2020-07-28T02:26:22Z 0 1 0 1054 CDBP01053 Cyclic nucleotide-gated cation channel alpha-3 Q16281 CNGA3_HUMAN false true Transporter Homo_sapiens CNGA3 694 78837.4 7.8 Involved in ion channel activity Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cyclic GMP which leads to an opening of the cation channel and thereby causing a depolarization of cone photoreceptors. Induced a flickering channel gating, weakened the outward rectification in the presence of extracellular calcium, increased sensitivity for L-cis diltiazem and enhanced the cAMP efficacy of the channel when coexpressed with CNGB3. Essential for the generation of light-evoked electrical responses in the red-, green- and blue sensitive cones ["None"] ["171-192", "305-325", "378-397"] AC092675 62988794 CNGA3 Chromosome:2 2q11.2 CNGA3 HGNC:2150 true 2020-06-12T23:06:53Z 2020-07-28T02:32:07Z 0 0 0 1055 CDBP01054 cGMP-dependent protein kinase 1 Q13976 KGP1_HUMAN true false Enzyme Homo_sapiens PRKG1 671 76363.8 5.87 Involved in protein serine/threonine kinase activity Phosphorylates PPP1R12A ["None"] ["None"] NM_001098512.1 148612818 PRKG1 Chromosome:1 10q11.2 PRKG1 HGNC:9414 true 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 1056 CDBP01055 Cyclic nucleotide-gated cation channel beta-3 Q9NQW8 CNGB3_HUMAN false true Transporter Homo_sapiens CNGB3 809 92248.8 8.11 Involved in ion channel activity Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cGMP which leads to an opening of the cation channel and thereby causing a depolarization of rod photoreceptors. Induced a flickering channel gating, weakened the outward rectification in the presence of extracellular calcium, increased sensitivity for L-cis diltiazem and enhanced the cAMP efficiency of the channel when coexpressed with CNGA3. Essential for the generation of light-evoked electrical responses in the red-, green- and blue sensitive cones ["None"] ["217-237", "251-271", "303-323", "360-380", "418-438", "505-525"] NM_019098.4 116642889 CNGB3 Chromosome:8 8q21.3 CNGB3 HGNC:2153 true 2020-06-12T23:06:53Z 2020-07-28T02:32:07Z 0 0 0 1057 CDBP01056 Rap guanine nucleotide exchange factor 2 Q9Y4G8 RPGF2_HUMAN false false Enzyme Homo_sapiens RAPGEF2 1499 167415.5 6.64 Involved in protein binding Guanine nucleotide exchange factor (GEF) for Rap1A, Rap1B and Rap2B GTPases. Does not interact with cAMP or cGMP ["None"] ["None"] NM_014247.2 7657261 RAPGEF2 Chromosome:4 4q32.1 RAPGEF2 HGNC:16854 true 2020-06-12T23:06:53Z 2020-07-28T02:33:28Z 0 0 0 1058 CDBP01057 cGMP-gated cation channel alpha-1 P29973 CNGA1_HUMAN true true Enzyme Homo_sapiens CNGA1 690 79584.8 7.98 Involved in ion channel activity Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cyclic GMP which leads to an opening of the cation channel and thereby causing a depolarization of rod photoreceptors ["None"] ["165-185", "199-217", "242-261", "300-322", "375-394", "479-499"] AC107068 63990992 CNGA1 Chromosome:4 4p12 CNGA1 HGNC:2148 true 2020-06-12T23:06:53Z 2020-07-28T02:26:22Z 0 0 0 1059 CDBP01058 cGMP-dependent protein kinase 2 Q13237 KGP2_HUMAN true false Enzyme Homo_sapiens PRKG2 762 87431.5 8.67 Involved in protein serine/threonine kinase activity ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] D70899 1906312 PRKG2 Chromosome:4 4q13.1-q21.1 PRKG2 HGNC:9416 true 2020-06-12T23:06:53Z 2020-06-12T23:06:53Z 0 0 0 1060 CDBP01059 Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 O60741 HCN1_HUMAN false true Transporter Homo_sapiens HCN1 890 98795.3 8.54 Involved in ion channel activity Hyperpolarization-activated ion channel exhibiting weak selectivity for potassium over sodium ions. Contributes to the native pacemaker currents in heart (If) and in neurons (Ih). Activated by cAMP, and at 10-100 times higher concentrations, also by cGMP. May mediate responses to sour stimuli ["None"] ["147-167", "174-194", "220-240", "249-269", "301-321", "372-392"] 1Q3E NM_021072.2 116325989 HCN1 Chromosome:5 5p12 HCN1 HGNC:4845 true 2020-06-12T23:06:54Z 2020-07-28T02:32:07Z 0 0 0 1061 CDBP01060 Acyl-CoA:lysophosphatidylglycerol acyltransferase 1 Q92604 LGAT1_HUMAN true false Enzyme Homo_sapiens LPGAT1 370 43089.1 9.24 Involved in acyltransferase activity Lysophoshatidylglycerol (LPG) specific acyltransferase that recognizes various acyl-CoAs and LPGs as substrates but demonstrates a clear preference for long chain saturated fatty acyl-CoAs and oleoyl-CoA as acyl donors. Prefers oleoyl-LPG over palmitoyl-LPG as an acyl receptor and oleoyl-CoA over lauroyl-CoA as an acyl donor ["None"] ["22-42", "342-362"] BC034621 22902215 LPGAT1 Chromosome:1 1q32 LPGAT1 HGNC:28985 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1062 CDBP01061 3-hydroxyanthranilate 3,4-dioxygenase P46952 3HAO_HUMAN true false Enzyme Homo_sapiens HAAO 286 32555.935 5.889 Involved in 3-hydroxyanthranilate 3,4-dioxygenase activity Catalyzes the oxidative ring opening of 3-hydroxyanthranilate to 2-amino-3-carboxymuconate semialdehyde, which spontaneously cyclizes to quinolinate. 2QNK AC098824 62822152 HAAO 2 2p21 HAAO HGNC:4796 true hsa:23498 HS08749-MONOMER NP_036337.2:NM_012205.2 Fe(2+) ion Monomer 2020-06-12T23:06:54Z 2020-07-28T02:26:22Z 0 1 0 1063 CDBP01062 Prostacyclin synthase Q16647 PTGIS_HUMAN true false Enzyme Homo_sapiens PTGIS 500 57103.385 7.308 Involved in monooxygenase activity Catalyzes the isomerization of prostaglandin H2 to prostacyclin (= prostaglandin I2). 2IAG;3B6H D38145 537949 PTGIS 20 20q13.13 PTGIS HGNC:9603 true hsa:5740 NP_000952.1:NM_000961.3 Widely expressed; particularly abundant in ovary, heart, skeletal muscle, lung and prostate. Heme group 2020-06-12T23:06:54Z 2020-07-28T02:26:22Z 1 1 1 1064 CDBP01063 Microtubule-associated serine/threonine-protein kinase 1 Q9Y2H9 MAST1_HUMAN true false Enzyme Homo_sapiens MAST1 1570 170675.2 8.6 Involved in protein serine/threonine kinase activity Appears to link the dystrophin/utrophin network with microtubule filaments via the syntrophins. Phosphorylation of DMD or UTRN may modulate their affinities for associated proteins ["None"] ["None"] NM_014975.2 45120119 MAST1 Chromosome:1 19p13.2 MAST1 HGNC:19034 true 2020-06-12T23:06:54Z 2020-07-28T02:26:22Z 0 1 0 1065 CDBP01064 Probable phospholipid-transporting ATPase IG Q8NB49 AT11C_HUMAN true true Enzyme Homo_sapiens ATP11C 1132 129476.0 6.63 Involved in ATP binding ATP + H(2)O + phospholipid(In) = ADP + phosphate + phospholipid(Out) ["None"] ["67-85", "87-107", "291-311", "347-367", "880-900", "909-929", "956-976", "996-1016", "1027-1047", "1070-1090"] AJ580093 39573513 ATP11C ATP11C HGNC:13554 true 2020-06-12T23:06:54Z 2020-07-28T02:26:23Z 0 1 0 1066 CDBP01065 Probable phospholipid-transporting ATPase IH P98196 AT11A_HUMAN true true Enzyme Homo_sapiens ATP11A 1134 129754.6 6.58 Involved in ATP binding ATP + H(2)O + phospholipid(In) = ADP + phosphate + phospholipid(Out) ["None"] ["62-82", "89-110", "297-318", "350-372", "882-902", "915-934", "965-986", "1001-1023", "1030-1050", "1069-1093"] NM_015205.2 150421684 ATP11A Chromosome:1 13q34 ATP11A HGNC:13552 true 2020-06-12T23:06:54Z 2020-07-28T02:26:23Z 0 1 0 1067 CDBP01066 Serine/threonine-protein kinase RIO2 Q9BVS4 RIOK2_HUMAN true false Enzyme Homo_sapiens RIOK2 552 63282.6 5.78 Involved in catalytic activity ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] AK002021 7023651 RIOK2 Chromosome:5 5q15 RIOK2 HGNC:18999 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1068 CDBP01067 Mitogen-activated protein kinase kinase kinase 1 Q13233 M3K1_HUMAN true false Enzyme Homo_sapiens MAP3K1 1512 164468.3 7.77 Involved in magnesium ion binding Component of a protein kinase signal transduction cascade. Activates the ERK and JNK kinase pathways by phosphorylation of MAP2K1 and MAP2K4. Activates CHUK and IKBKB, the central protein kinases of the NF-kappa-B pathway ["None"] ["None"] NM_005921.1 153945765 MAP3K1 Chromosome:5 5q11.2 MAP3K1 HGNC:6848 true 2020-06-12T23:06:54Z 2020-07-28T02:26:23Z 1 1 0 1069 CDBP01068 Mitogen-activated protein kinase 12 P53778 MK12_HUMAN true false Enzyme Homo_sapiens MAPK12 367 41939.8 6.33 Involved in MAP kinase activity Responds to activation by environmental stress and pro- inflammatory cytokines by phosphorylating downstream targets. Plays a role in myoblast differentiation and also in the down- regulation of cyclin D1 in response to hypoxia in adrenal cells suggesting MAPK12 may inhibit cell proliferation while promoting differentiation ["None"] ["None"] 1CM8 X79483 1486363 MAPK12 Chromosome:2 22q13.33 MAPK12 HGNC:6874 true 2020-06-12T23:06:54Z 2020-07-28T02:26:23Z 1 0 0 1070 CDBP01069 Cell division protein kinase 3 Q00526 CDK3_HUMAN true false Enzyme Homo_sapiens CDK3 305 35045.4 9.14 Involved in protein kinase activity Probably involved in the control of the cell cycle. Interacts with a yet unknown type of cyclin. Can phosphorylate histone H1 ["None"] ["None"] AY789470 54781357 CDK3 Chromosome:1 17q22-qter CDK3 HGNC:1772 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1071 CDBP01070 Phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing subunit gamma O75747 P3C2G_HUMAN true false Enzyme Homo_sapiens PIK3C2G 1444 165648.3 6.92 Involved in binding In vitro, phosphorylates PtdIns and PtdIns4P but not PtdIns(4,5)P2 ["None"] ["None"] BC130277 120659792 PIK3C2G Chromosome:1 12p12 PIK3C2G HGNC:8973 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1072 CDBP01071 N-acetylgalactosamine kinase Q01415 GALK2_HUMAN true false Enzyme Homo_sapiens GALK2 458 49234.57 6.364 Involved in galactokinase activity Acts on GalNAc. Also acts as a galactokinase when galactose is present at high concentrations. May be involved in a salvage pathway for the reutilization of free GalNAc derived from the degradation of complex carbohydrates. 2A2C;2A2D BC005141 13477333 GALK2 15 15q21.1-q21.2 GALK2 HGNC:4119 true hsa:2585 NP_001001556.1:NM_001001556.1;NP_002035.1:NM_002044.2 Monomer 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1073 CDBP01072 Mitogen-activated protein kinase kinase kinase kinase 3 Q8IVH8 M4K3_HUMAN true false Enzyme Homo_sapiens MAP4K3 894 101315.1 7.6 Involved in small GTPase regulator activity May play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway ["None"] ["None"] NM_003618.2 15451902 MAP4K3 Chromosome:2 2p22.1 MAP4K3 HGNC:6865 true 2020-06-12T23:06:54Z 2020-07-28T02:26:23Z 0 0 0 1074 CDBP01073 Mitogen-activated protein kinase kinase kinase 3 Q99759 M3K3_HUMAN true false Enzyme Homo_sapiens MAP3K3 626 70897.1 9.09 Involved in protein serine/threonine kinase activity Component of a protein kinase signal transduction cascade. Mediates activation of the NF-kappa-B, AP1 and DDIT3 transcriptional regulators ["None"] ["None"] NM_002401.3 42794765 MAP3K3 Chromosome:1 17q23.3 MAP3K3 HGNC:6855 true 2020-06-12T23:06:54Z 2020-07-28T02:26:23Z 0 0 0 1075 CDBP01074 Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta isoform O00329 PK3CD_HUMAN true false Enzyme Homo_sapiens PIK3CD 1044 119478.1 7.18 Involved in binding ATP + 1-phosphatidyl-1D-myo-inositol 4,5- bisphosphate = ADP + 1-phosphatidyl-1D-myo-inositol 3,4,5- trisphosphate ["None"] ["None"] Y10055 37496959 PIK3CD Chromosome:1 1p36.2 PIK3CD HGNC:8977 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1076 CDBP01075 Death-associated protein kinase 3 O43293 DAPK3_HUMAN true false Enzyme Homo_sapiens DAPK3 454 52535.2 6.87 Involved in protein kinase activity Serine/threonine kinase which acts as a positive regulator of apoptosis. Phosphorylates histone H3 on 'Thr-11' at centromeres during mitosis. Regulates myosin light chain phosphatase through phosphorylation of MYPT1 thereby regulating the assembly of the actin cytoskeleton, cell migration, invasiveness of tumor cells, smooth muscle contraction and neurite outgrowth. Involved in the formation of promyelocytic leukemia protein nuclear body (PML-NB), one of many subnuclear domains in the eukaryotic cell nucleus, and which is involved in oncogenesis and viral infection ["None"] ["None"] AB007144 DAPK3 Chromosome:1 19p13.3 DAPK3 HGNC:2676 true 2020-06-12T23:06:54Z 2020-07-28T02:26:23Z 0 0 0 1077 CDBP01076 Tyrosine-protein kinase TXK P42681 TXK_HUMAN true false Enzyme Homo_sapiens TXK 527 61257.9 8.05 Involved in protein kinase activity ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate ["None"] ["None"] L27071 684986 TXK Chromosome:4 4p12 TXK HGNC:12434 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1078 CDBP01077 Epithelial discoidin domain-containing receptor 1 Q08345 DDR1_HUMAN true false Enzyme Homo_sapiens DDR1 913 101126.7 6.81 Involved in cell adhesion May be involved in cell-cell interactions and recognition ["1-18"] ["417-443"] AB088102 27544401 DDR1 Chromosome:6 6p21.3 DDR1 HGNC:2730 true 2020-06-12T23:06:54Z 2020-07-28T02:26:24Z 1 0 0 1079 CDBP01078 Proto-oncogene tyrosine-protein kinase Src P12931 SRC_HUMAN true false Enzyme Homo_sapiens SRC 536 59834.3 7.47 Involved in protein kinase activity ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate ["None"] ["None"] 2SRC BC011566 15079460 SRC Chromosome:2 20q12-q13 SRC HGNC:11283 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1080 CDBP01079 Receptor-interacting serine/threonine-protein kinase 3 Q9Y572 RIPK3_HUMAN true false Enzyme Homo_sapiens RIPK3 518 56886.9 6.41 Involved in protein kinase activity Promotes apoptosis ["None"] ["None"] AF156884 5059425 RIPK3 Chromosome:1 14q11.2 RIPK3 HGNC:10021 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1081 CDBP01080 BDNF/NT-3 growth factors receptor Q16620 NTRK2_HUMAN true false Enzyme Homo_sapiens NTRK2 822 91998.2 6.45 Involved in protein kinase activity Receptor for brain-derived neurotrophic factor (BDNF), neurotrophin-3 and neurotrophin-4/5 but not nerve growth factor (NGF). Involved in the development and/or maintenance of the nervous system. This is a tyrosine-protein kinase receptor. Known substrates for the TRK receptors are SHC1, PI-3 kinase, and PLC- gamma-1 ["1-31"] ["431-454"] U12140 NTRK2 Chromosome:9 9q22.1 NTRK2 HGNC:8032 true 2020-06-12T23:06:54Z 2020-07-28T02:26:24Z 1 0 0 1082 CDBP01081 Activin receptor type-2B Q13705 AVR2B_HUMAN false false Receptor Homo_sapiens ACVR2B 512 57723.5 5.48 Involved in receptor signaling protein serine/threonine kinase activity On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for activin A, activin B and inhibin A ["1-18"] ["138-158"] 1NYU AB008681 5731735 ACVR2B Chromosome:3 3p22 ACVR2B HGNC:174 true 2020-06-12T23:06:54Z 2020-07-28T02:26:24Z 1 0 0 1083 CDBP01082 Death-associated protein kinase 2 Q9UIK4 DAPK2_HUMAN true false Enzyme Homo_sapiens DAPK2 370 42897.7 6.92 Involved in protein kinase activity Calcium/calmodulin-dependent serine/threonine kinase which acts as a positive regulator of apoptosis ["None"] ["None"] AB018001 6521210 DAPK2 Chromosome:1 15q22.31 DAPK2 HGNC:2675 true 2020-06-12T23:06:54Z 2020-07-28T02:26:24Z 0 0 0 1084 CDBP01083 Plasma membrane calcium-transporting ATPase 3 Q16720 AT2B3_HUMAN true true Enzyme Homo_sapiens ATP2B3 1220 134196.025 5.614 Involved in ATP binding This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell. NM_001001344.2 48255955 ATP2B3 X Xq28 ATP2B3 HGNC:816 true hsa:492 NP_001001344.1:NM_001001344.2;NP_068768.2:NM_021949.3 Isoform XE and isoform XB are the most abundant isoforms and are detected at low levels in brain and fetal skeletal muscle. The other isoforms are only found at lower levels and not in fetal tissues. 2020-06-12T23:06:54Z 2020-07-28T02:26:24Z 0 1 0 1085 CDBP01084 RAF proto-oncogene serine/threonine-protein kinase P04049 RAF1_HUMAN true false Enzyme Homo_sapiens RAF1 648 73051.0 9.62 Involved in intracellular signaling pathway Involved in the transduction of mitogenic signals from the cell membrane to the nucleus. Part of the Ras-dependent signaling pathway from receptors to the nucleus. Protects cells from apoptosis mediated by STK3 ["None"] ["None"] X03484 35842 RAF1 Chromosome:3 3p25 RAF1 HGNC:9829 true 2020-06-12T23:06:54Z 2020-07-28T02:26:24Z 1 0 0 1086 CDBP01085 Serine/threonine-protein kinase Nek4 P51957 NEK4_HUMAN true false Enzyme Homo_sapiens NEK4 841 94596.4 7.98 Involved in protein kinase activity Seems to act exclusively upon threonine residues ["None"] ["None"] NM_003157.4 148839316 NEK4 Chromosome:3 3p21.1 NEK4 HGNC:11399 true 2020-06-12T23:06:54Z 2020-07-28T02:26:24Z 0 0 0 1087 CDBP01086 Myosin-IIIa Q8NEV4 MYO3A_HUMAN true false Enzyme Homo_sapiens MYO3A 1616 186207.0 9.25 Involved in motor activity Probable actin-based motor with a protein kinase activity. Probably plays a role in vision and hearing ["None"] ["None"] AF229172 7958618 MYO3A Chromosome:1 10p11.1 MYO3A HGNC:7601 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1088 CDBP01087 Macrophage-stimulating protein receptor Q04912 RON_HUMAN true false Enzyme Homo_sapiens MST1R 1400 152270.1 6.53 Involved in receptor activity Receptor for macrophage stimulating protein (MSP). Has a tyrosine-protein kinase activity ["1-24"] ["958-978"] NM_002447.2 153946393 MST1R Chromosome:3 3p21.3 MST1R HGNC:7381 true 2020-06-12T23:06:54Z 2020-07-28T02:26:24Z 1 0 0 1089 CDBP01088 Serine/threonine-protein kinase NLK Q9UBE8 NLK_HUMAN true false Enzyme Homo_sapiens NLK 527 58282.4 8.19 Involved in MAP kinase activity Role in cell fate determination, required for differentiation of bone marrow stromal cells. Acts downstream of MAP3K7 and HIPK2 to negatively regulate the canonical Wnt/beta- catenin signaling pathway and the phosphorylation and destruction of the MYB transcription factor. May suppress a wide range of transcription factors by phosphorylation of the coactivator, CREBBP. Involved in TGFbeta-mediated mesoderm induction, acting downstream of MAP3K7/TAK1 to phosphorylate STAT3 ["None"] ["None"] NM_016231.4 149408126 NLK Chromosome:1 17q11.2 NLK HGNC:29858 true 2020-06-12T23:06:54Z 2020-07-28T02:26:25Z 1 0 0 1090 CDBP01089 Ribosomal protein S6 kinase alpha-2 Q15349 KS6A2_HUMAN true false Enzyme Homo_sapiens RPS6KA2 733 83238.0 8.96 Involved in protein serine/threonine kinase activity Serine/threonine kinase that may play a role in mediating the growth-factor and stress induced activation of the transcription factor CREB ["None"] ["None"] NM_021135.4 19923570 RPS6KA2 Chromosome:6 6q27 RPS6KA2 HGNC:10431 true 2020-06-12T23:06:54Z 2020-07-28T02:26:25Z 0 1 0 1091 CDBP01090 Vascular endothelial growth factor receptor 3 P35916 VGFR3_HUMAN true false Enzyme Homo_sapiens FLT4 1298 145597.3 6.24 Involved in protein kinase activity Receptor for VEGFC. Has a tyrosine-protein kinase activity ["1-24"] ["776-797"] X69878 297050 FLT4 Chromosome:5 5q35.3 FLT4 HGNC:3767 true 2020-06-12T23:06:54Z 2020-07-28T02:26:25Z 1 0 0 1092 CDBP01091 Glycogen synthase kinase-3 beta P49841 GSK3B_HUMAN true false Enzyme Homo_sapiens GSK3B 420 46743.9 8.97 Involved in protein kinase activity Participates in the Wnt signaling pathway. Implicated in the hormonal control of several regulatory proteins including glycogen synthase, MYB and the transcription factor JUN. Phosphorylates JUN at sites proximal to its DNA-binding domain, thereby reducing its affinity for DNA. Phosphorylates MUC1 in breast cancer cells, and decreases the interaction of MUC1 with CTNNB1/beta-catenin. Phosphorylates CTNNB1/beta-catenin. Phosphorylates SNAI1 ["None"] ["None"] 1J1C NM_001146156.1 225903437 GSK3B Chromosome:3 3q13.3 GSK3B HGNC:4617 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1093 CDBP01092 Glucosidase 2 subunit beta P14314 GLU2B_HUMAN true false Enzyme Homo_sapiens PRKCSH 528 59424.9 4.05 Involved in calcium ion binding Regulatory subunit of glucosidase II ["1-14"] ["None"] AF144075 7672979 PRKCSH Chromosome:1 19p13.2 PRKCSH HGNC:9411 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1094 CDBP01093 Katanin p60 ATPase-containing subunit A1 O75449 KTNA1_HUMAN true false Enzyme Homo_sapiens KATNA1 491 35319.06 9.267 Involved in nucleotide binding Catalytic subunit of a complex which severs microtubules in an ATP-dependent manner. Microtubule severing may promote rapid reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. Microtubule release from the mitotic spindle poles may allow depolymerization of the microtubule end proximal to the spindle pole, leading to poleward microtubule flux and poleward motion of chromosome. Microtubule release within the cell body of neurons may be required for their transport into neuronal processes by microtubule-dependent motor proteins. This transport is required for axonal growth (By similarity). AF056022 3283072 KATNA1 6 6q25.1 KATNA1 HGNC:6216 true hsa:11104 NP_001191005.1:NM_001204076.1;NP_008975.1:NM_007044.3 Can homooligomerize into hexameric rings, which may be promoted by interaction with microtubules . Interacts with KATNB1, which may serve as a targeting subunit. Interacts with dynein and NDEL1 (By similarity). Associates with the E3 ligase complex containing DYRK2, EDD/UBR5, DDB1 and VPRBP proteins (EDVP complex) 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1095 CDBP01094 Dual specificity protein kinase CLK4 Q9HAZ1 CLK4_HUMAN true false Enzyme Homo_sapiens CLK4 481 57491.5 8.82 Involved in protein kinase activity Phosphorylates serine- and arginine-rich (SR) proteins of the spliceosomal complex may be a constituent of a network of regulatory mechanisms that enable SR proteins to control RNA splicing. Phosphorylates serines, threonines and tyrosines. Required for the regulation of alternative splicing of MAPT/TAU ["None"] ["None"] AF294429 9965398 CLK4 Chromosome:5 5q35 CLK4 HGNC:13659 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1096 CDBP01095 V-type proton ATPase subunit G 3 Q96LB4 VATG3_HUMAN true false Enzyme Homo_sapiens ATP6V1G3 118 13916.9 9.67 Involved in hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells ["None"] ["None"] AL157402 55957706 ATP6V1G3 Chromosome:1 1q31.3 ATP6V1G3 HGNC:18265 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1097 CDBP01096 Receptor tyrosine-protein kinase erbB-3 P21860 ERBB3_HUMAN true false Enzyme Homo_sapiens ERBB3 1342 148097.1 6.53 Involved in transmembrane receptor protein tyrosine kinase activity Binds and is activated by neuregulins and NTAK ["1-19"] ["644-664"] 1M6B BC082992 52789419 ERBB3 Chromosome:1 12q13 ERBB3 HGNC:3431 true 2020-06-12T23:06:54Z 2020-07-28T02:26:25Z 1 0 0 1098 CDBP01097 Ephrin type-A receptor 5 P54756 EPHA5_HUMAN true false Enzyme Homo_sapiens EPHA5 1037 114802.3 6.92 Involved in ephrin receptor activity Receptor for members of the ephrin-A family. Binds to ephrin-A1, -A2, -A3, -A4 and -A5 ["1-24"] ["574-594"] NM_004439.5 221625401 EPHA5 Chromosome:4 4q13.1 EPHA5 HGNC:3389 true 2020-06-12T23:06:54Z 2020-07-28T02:26:25Z 1 0 0 1099 CDBP01098 Probable phospholipid-transporting ATPase VA O60312 AT10A_HUMAN true true Enzyme Homo_sapiens ATP10A 1499 167686.6 8.43 Involved in ATP binding ATP + H(2)O + phospholipid(In) = ADP + phosphate + phospholipid(Out) ["None"] ["87-106", "111-128", "310-332", "363-384", "1088-1108", "1120-1140", "1171-1192", "1200-1222", "1229-1249", "1268-1292"] NM_024490.3 14424433 ATP10A Chromosome:1 15q11.2 ATP10A HGNC:13542 true 2020-06-12T23:06:54Z 2020-07-28T02:26:25Z 0 1 0 1100 CDBP01099 Serine/threonine-protein kinase PAK 7 Q9P286 PAK7_HUMAN true false Enzyme Homo_sapiens PAK7 719 80744.2 8.2 Involved in protein kinase activity The activated kinase acts on a variety of targets ["None"] ["None"] NM_020341.3 24308191 PAK7 Chromosome:2 20p12 PAK7 HGNC:15916 true 2020-06-12T23:06:54Z 2020-07-28T02:26:25Z 0 0 0 1101 CDBP01100 Serine/threonine-protein kinase haspin Q8TF76 HASP_HUMAN true false Enzyme Homo_sapiens GSG2 798 88494.6 9.57 Involved in protein kinase activity Required for normal alignment of chromosomes at metaphase. Phosphorylates histone H3 'Thr-3' during mitosis ["None"] ["None"] AB039834 GSG2 Chromosome:1 17p13 GSG2 HGNC:19682 true 2020-06-12T23:06:54Z 2020-07-28T02:26:25Z 0 0 0 1102 CDBP01101 [Pyruvate dehydrogenase [lipoamide]] kinase isozyme 1, mitochondrial Q15118 PDK1_HUMAN true false Enzyme Homo_sapiens PDK1 436 49243.8 9.05 Involved in ATP binding Inhibits the mitochondrial pyruvate dehydrogenase complex by phosphorylation of the E1 alpha subunit, thus contributing to the regulation of glucose metabolism ["None"] ["None"] L42450 1088281 PDK1 Chromosome:2 2q31.1 PDK1 HGNC:8809 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1103 CDBP01102 Cell division protein kinase 10 Q15131 CDK10_HUMAN true false Enzyme Homo_sapiens CDK10 360 41037.7 9.08 Involved in protein kinase activity ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] NM_052988.4 148596926 CDK10 Chromosome:1 16q24 CDK10 HGNC:1770 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1104 CDBP01103 Serine/threonine-protein kinase Nek1 Q96PY6 NEK1_HUMAN true false Enzyme Homo_sapiens NEK1 1258 142827.3 5.78 Involved in protein kinase activity Phosphorylates serines and threonines, but also appears to possess tyrosine kinase activity. Implicated in the control of meiosis ["None"] ["None"] NM_012224.1 41872673 NEK1 Chromosome:4 4q33 NEK1 HGNC:7744 true 2020-06-12T23:06:54Z 2020-07-28T02:26:26Z 0 0 0 1105 CDBP01104 Activin receptor type-1 Q04771 ACVR1_HUMAN false false Receptor Homo_sapiens ACVR1 509 57152.4 7.36 Involved in receptor signaling protein serine/threonine kinase activity On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for activin. May be involved for left-right pattern formation during embryogenesis ["1-20"] ["124-146"] L02911 ACVR1 Chromosome:2 2q23-q24 ACVR1 HGNC:171 true 2020-06-12T23:06:54Z 2020-07-28T02:26:26Z 1 0 0 1106 CDBP01105 Mitogen-activated protein kinase kinase kinase 14 Q99558 M3K14_HUMAN true false Enzyme Homo_sapiens MAP3K14 947 104040.7 7.76 Involved in protein kinase activity Lymphotoxin beta-activated kinase which seems to be exclusively involved in the activation of NF-kappa-B and its transcriptional activity. Induces the processing of NF-kappa- B2/P100. Could act in a receptor-selective manner ["None"] ["None"] BC035576 23272580 MAP3K14 Chromosome:1 17q21 MAP3K14 HGNC:6853 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1107 CDBP01106 Tyrosine-protein kinase transmembrane receptor ROR2 Q01974 ROR2_HUMAN true false Enzyme Homo_sapiens ROR2 943 104756.4 6.53 Involved in protein kinase activity Tyrosine-protein kinase receptor which may be involved in the early formation of the chondrocytes. It seems to be required for cartilage and growth plate development. Phosphorylates YWHAB, leading to induction of osteogenesis and bone formation ["1-33"] ["404-424"] NM_004560.2 19743898 ROR2 Chromosome:9 9q22 ROR2 HGNC:10257 true 2020-06-12T23:06:54Z 2020-07-28T02:26:26Z 1 0 0 1108 CDBP01107 MAP/microtubule affinity-regulating kinase 3 P27448 MARK3_HUMAN true false Enzyme Homo_sapiens MARK3 776 87003.8 10.07 Involved in protein serine/threonine kinase activity Involved in the specific phosphorylation of microtubule- associated proteins for tau, MAP2 and MAP4. Phosphorylates CDC25C on 'Ser-216' ["None"] ["None"] 1UL7 46852166 MARK3 Chromosome:1 14q32.3 MARK3 HGNC:6897 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1109 CDBP01108 Protein kinase C alpha type P17252 KPCA_HUMAN true false Enzyme Homo_sapiens PRKCA 672 76763.5 7.05 Involved in protein serine/threonine kinase activity PKC is activated by diacylglycerol which in turn phosphorylates a range of cellular proteins. PKC also serves as the receptor for phorbol esters, a class of tumor promoters ["None"] ["None"] X52479 35483 PRKCA Chromosome:1 17q22-q23.2 PRKCA HGNC:9393 true 2020-06-12T23:06:54Z 2020-07-28T02:26:26Z 0 1 0 1110 CDBP01109 Tyrosine-protein kinase-like 7 Q13308 PTK7_HUMAN true false Enzyme Homo_sapiens PTK7 1070 118390.7 7.09 Involved in protein kinase activity May function as a cell adhesion molecule that acts as a regulator of planar cell polarity. Seems to lack tyrosine-protein kinase activity ["1-30"] ["705-725"] AF447176 17432421 PTK7 Chromosome:6 6p21.1-p12.2 PTK7 HGNC:9618 true 2020-06-12T23:06:54Z 2020-07-28T02:26:26Z 1 0 0 1111 CDBP01110 Mitotic checkpoint serine/threonine-protein kinase BUB1 O43683 BUB1_HUMAN true false Enzyme Homo_sapiens BUB1 1085 122374.4 6.44 Involved in protein kinase activity Serine/threonine-protein kinase that performs 2 crucial functions during mitosis:it is essential for spindle-assembly checkpoint signaling and for correct chromosome alignment. Has a key role in the assembly of checkpoint proteins at the kinetochore, being required for the subsequent localization of CENPF, BUB1B, CENPE and MAD2L1. Required for the kinetochore localization of PLK1. Plays an important role in defining SGOL1 localization and thereby affects sister chromatid cohesion. Acts as a substrate for anaphase-promoting complex or cyclosome (APC/C) in complex with its activator CDH1 (APC/C-Cdh1). Necessary for ensuring proper chromosome segregation and binding to BUB3 is essential for this function. Can regulate chromosome segregation in a kinetochore-independent manner. Can phosphorylate BUB3. The BUB1-BUB3 complex plays a role in the inhibition of APC/C when spindle-assembly checkpoint is activated and inhibits the ubiquitin ligase activity of APC/C by phosphorylating its activator CDC20. This complex can also phosphorylate MAD1L1. Kinase activity is essential for inhibition of APC/CCDC20 and for chromosome alignment but does not play a major role in the spindle-assembly checkpoint activity. Mediates cell death in response to chromosome missegregation and acts to suppress spontaneous tumorigenesis ["None"] ["None"] NM_004336.3 4757878 BUB1 Chromosome:2 2q14 BUB1 HGNC:1148 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1112 CDBP01111 Serine/threonine-protein kinase 38 Q15208 STK38_HUMAN true false Enzyme Homo_sapiens STK38 465 54189.8 7.17 Involved in protein serine/threonine kinase activity Negative regulator of MAP3K1/2 signaling. Converts MAP3K2 from its phosphorylated form to its nonphosphorylated form and inhibits autophosphorylation of MAP3K2 ["None"] ["None"] BC012085 15082350 STK38 Chromosome:6 6p21 STK38 HGNC:17847 true 2020-06-12T23:06:54Z 2020-07-28T02:26:26Z 0 0 0 1113 CDBP01112 Mitogen-activated protein kinase kinase kinase kinase 1 Q92918 M4K1_HUMAN true false Enzyme Homo_sapiens MAP4K1 833 91295.5 8.44 Involved in small GTPase regulator activity May play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway. May play a role in hematopoietic lineage decisions and growth regulation ["None"] ["None"] U66464 1575563 MAP4K1 Chromosome:1 19q13.1-q13.4 MAP4K1 HGNC:6863 true 2020-06-12T23:06:54Z 2020-07-28T02:26:26Z 0 0 0 1114 CDBP01113 Ephrin type-B receptor 1 P54762 EPHB1_HUMAN true false Enzyme Homo_sapiens EPHB1 984 109884.2 6.34 Involved in ephrin receptor activity Receptor for members of the ephrin-B family. Binds to ephrin-B1, -B2 and -B3. May be involved in cell-cell interactions in the nervous system ["1-17"] ["541-563"] 1JPA NM_004441.4 4758284 EPHB1 Chromosome:3 3q21-q23 EPHB1 HGNC:3392 true 2020-06-12T23:06:54Z 2020-07-28T02:26:26Z 1 0 0 1115 CDBP01114 V-type proton ATPase subunit G 1 O75348 VATG1_HUMAN true false Enzyme Homo_sapiens ATP6V1G1 118 13757.4 9.17 Involved in hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells ["None"] ["None"] AF038954 3329378 ATP6V1G1 Chromosome:9 9q32 ATP6V1G1 HGNC:864 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1116 CDBP01115 Insulin-like growth factor 1 receptor P08069 IGF1R_HUMAN true false Enzyme Homo_sapiens IGF1R 1367 154791.7 5.54 Involved in transmembrane receptor protein tyrosine kinase activity This receptor binds insulin-like growth factor 1 (IGF1) with a high affinity and IGF2 with a lower affinity. It has a tyrosine-protein kinase activity, which is necessary for the activation of the IGF1-stimulated downstream signaling cascade. When present in a hybrid receptor with INSR, binds IGF1. PubMed:12138094 shows that hybrid receptors composed of IGF1R and INSR isoform Long are activated with a high affinity by IGF1, with low affinity by IGF2 and not significantly activated by insulin, and that hybrid receptors composed of IGF1R and INSR isoform Short are activated by IGF1, IGF2 and insulin. In contrast, PubMed:16831875 shows that hybrid receptors composed of IGF1R and INSR isoform Long and hybrid receptors composed of IGF1R and INSR isoform Short have similar binding characteristics, both bind IGF1 and have a low affinity for insulin ["1-30"] ["936-959"] 1IGR X04434 804990 IGF1R Chromosome:1 15q26.3 IGF1R HGNC:5465 true 2020-06-12T23:06:54Z 2020-07-28T02:26:27Z 1 0 0 1117 CDBP01116 FL cytokine receptor P36888 FLT3_HUMAN true false Enzyme Homo_sapiens FLT3 993 112902.5 5.43 Involved in protein kinase activity Receptor for the FL cytokine. Has a tyrosine-protein kinase activity ["1-26"] ["544-563"] BC126350 116497195 FLT3 Chromosome:1 13q12 FLT3 HGNC:3765 true 2020-06-12T23:06:54Z 2020-07-28T02:26:27Z 1 0 0 1118 CDBP01117 Mitogen-activated protein kinase 1 P28482 MK01_HUMAN true false Enzyme Homo_sapiens MAPK1 360 41389.3 6.99 Involved in MAP kinase activity Acts as a transcriptional repressor. Binds to a [GC]AAA[GC] consensus sequence. Repress the expression of interferon gamma-induced genes. Seems to bind to the promoter of CCL5, DMP1, IFIH1, IFITM1, IRF7, IRF9, LAMP3, OAS1, OAS2, OAS3 and STAT1. Transcriptional activity is independent of kinase activity ["None"] ["None"] 4ERK M84489 MAPK1 Chromosome:2 22q11.2|22q11.21 MAPK1 HGNC:6871 true 2020-06-12T23:06:54Z 2020-07-28T02:26:27Z 1 0 0 1119 CDBP01118 Cell division protein kinase 8 P49336 CDK8_HUMAN true false Enzyme Homo_sapiens CDK8 464 53283.3 8.82 Involved in protein kinase activity Component of the Mediator complex, a coactivator involved in regulated gene transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. Phosphorylates the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNAp II), which may inhibit the formation of a transcription initiation complex. Phosphorylates CCNH leading to down-regulation of the TFIIH complex and transcriptional repression. Recruited through interaction with MAML1 to hyperphosphorylate the intracellular domain of NOTCH, leading to its degradation ["None"] ["None"] X85753 1000491 CDK8 Chromosome:1 13q12 CDK8 HGNC:1779 true 2020-06-12T23:06:54Z 2020-07-28T02:26:27Z 0 0 0 1120 CDBP01119 Probable phospholipid-transporting ATPase IC O43520 AT8B1_HUMAN true true Enzyme Homo_sapiens ATP8B1 1251 143694.1 7.16 Involved in ATP binding May play a role in the transport of aminophospholipids from the outer to the inner leaflet of various membranes and the maintenance of asymmetric distribution of phospholipids in the canicular membrane. May have a role in transport of bile acids into the canaliculus, uptake of bile acids from intestinal contents into intestinal mucosa or both ["None"] ["109-130", "137-156", "341-362", "390-411", "950-970", "983-1002", "1033-1054", "1069-1091", "1098-1118", "1139-1163"] NM_005603.4 5031697 ATP8B1 Chromosome:1 18q21-q22|18q21.31 ATP8B1 HGNC:3706 true 2020-06-12T23:06:54Z 2020-07-28T02:26:27Z 0 1 0 1121 CDBP01120 Phosphorylase b kinase gamma catalytic chain, skeletal muscle isoform Q16816 PHKG1_HUMAN true false Enzyme Homo_sapiens PHKG1 387 45023.4 6.86 Involved in phosphorylase kinase activity Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I ["None"] ["None"] 1PHK AF254253 17224425 PHKG1 Chromosome:7 7p11.2 PHKG1 HGNC:8930 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1122 CDBP01121 Tyrosine-protein kinase JAK2 O60674 JAK2_HUMAN true false Enzyme Homo_sapiens JAK2 1132 130672.5 7.21 Involved in protein kinase activity Non-receptor tyrosine kinase involved in various processes such as cell cycle progression, apoptosis, mitotic recombination, genetic instability and histone modifications. In the cytoplasm, plays a pivotal role in signal transduction via its association with cytokine receptors, which constitutes an initiating step in signaling for many members of the cytokine receptor superfamily including the receptors for growth hormone (GHR), prolactin (PRLR), leptin (LEPR), erythropoietin (EPOR), granulocyte-macrophage colony-stimulating factor (CSF2), thrombopoietin (THPO) and multiple interleukins. Following stimulation with erythropoietin (EPO) during erythropoiesis, it is autophosphorylated and activated, leading to its association with erythropoietin receptor (EPOR) and tyrosine phosphorylation of residues in the EPOR cytoplasmic domain. Also involved in promoting the localization of EPOR to the plasma membrane. Also acts downstream of some G-protein coupled receptors. Plays a role in the control of body weight. In the nucleus, plays a key role in chromatin by specifically mediating phosphorylation of 'Tyr-41' of histone H3 (H3Y41ph), a specific tag that promotes exclusion of CBX5 (HP1 alpha) from chromatin ["None"] ["None"] AF001362 3236322 JAK2 Chromosome:9 9p24 JAK2 HGNC:6192 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1123 CDBP01122 Serine/threonine-protein kinase ICK Q9UPZ9 ICK_HUMAN true false Enzyme Homo_sapiens ICK 632 71426.1 10.32 Involved in protein kinase activity May play a key role in the development of multiple organ systems and particularly in cardiac development ["None"] ["None"] NM_014920.3 7662388 ICK Chromosome:6 6p12.1 ICK HGNC:21219 true 2020-06-12T23:06:54Z 2020-07-28T02:26:27Z 0 0 0 1124 CDBP01123 MAP kinase-activated protein kinase 5 Q8IW41 MAPK5_HUMAN true false Enzyme Homo_sapiens MAPKAPK5 473 54220.0 7.86 Involved in protein kinase activity Mediates stress-induced small heat shock protein 27 phosphorylation ["None"] ["None"] NM_139078.1 21237768 MAPKAPK5 Chromosome:1 12q24.13 MAPKAPK5 HGNC:6889 true 2020-06-12T23:06:54Z 2020-07-28T02:26:27Z 0 0 0 1125 CDBP01124 Serine/threonine-protein kinase SIK1 P57059 SIK1_HUMAN true false Enzyme Homo_sapiens SIK1 783 84901.3 7.21 Involved in protein kinase activity Transient role during the earliest stages of myocardial cell differentiation and/or primitive chamber formation and may also be important for the earliest stages of skeletal muscle growth and/or differentiation. Potential role in G2/M cell cycle regulation. Inhibits CREB activity by phosphorylating and repressing the CREB-specific coactivators, CRTC1-3 ["None"] ["None"] AB047786 56377677 SIK1 Chromosome:2 21q22.3 SIK1 HGNC:11142 true 2020-06-12T23:06:54Z 2020-07-28T02:26:27Z 0 1 0 1126 CDBP01125 Serine/threonine-protein kinase N2 Q16513 PKN2_HUMAN true false Enzyme Homo_sapiens PKN2 984 112033.5 6.22 Involved in protein serine/threonine kinase activity Exhibits a preference for highly basic protein substrates ["None"] ["None"] AL136381 56204512 PKN2 Chromosome:1 1p22.2 PKN2 HGNC:9406 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1127 CDBP01126 Sodium/potassium-transporting ATPase subunit beta-3 P54709 AT1B3_HUMAN true true Enzyme Homo_sapiens ATP1B3 279 31512.3 8.52 Involved in sodium:potassium-exchanging ATPase activity This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The exact function of the beta-3 subunit is not known ["None"] ["36-56"] U51478 ATP1B3 Chromosome:3 3q23 ATP1B3 HGNC:806 true 2020-06-12T23:06:54Z 2020-07-28T02:26:28Z 0 0 0 1128 CDBP01127 Plasma membrane calcium-transporting ATPase 1 P20020 AT2B1_HUMAN true true Enzyme Homo_sapiens ATP2B1 1258 129515.035 6.166 Involved in ATP binding This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell. 48255945 ATP2B1 12 12q21.3 ATP2B1 HGNC:814 true hsa:490 NP_001001323.1:NM_001001323.1;NP_001673.2:NM_001682.2 Isoform B is ubiquitously expressed. Isoform C is found in brain cortex, skeletal muscle and heart muscle. Isoform D has only been found in fetal skeletal muscle. Isoform K has been found in small intestine and liver. 2020-06-12T23:06:54Z 2020-07-28T02:26:28Z 0 1 0 1129 CDBP01128 Maternal embryonic leucine zipper kinase Q14680 MELK_HUMAN true false Enzyme Homo_sapiens MELK 651 74641.5 8.94 Involved in protein serine/threonine kinase activity Phosphorylates ZNF622 and may contribute to its redirection to the nucleus. May be involved in the inhibition of spliceosome assembly during mitosis ["None"] ["None"] AL354932 122889201 MELK Chromosome:9 9p13.2 MELK HGNC:16870 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1130 CDBP01129 Phosphatidylinositol-5-phosphate 4-kinase type-2 alpha P48426 PI42A_HUMAN true false Enzyme Homo_sapiens PIP4K2A 406 46224.3 7.0 Involved in phosphatidylinositol phosphate kinase activity Catalyzes the phosphorylation of phosphatidylinositol-5- phosphate on the fourth hydroxyl of the myo-inositol ring, to form phosphatidylinositol-4,5-biphosphate ["None"] ["None"] AL157707 57160667 PIP4K2A Chromosome:1 10p12.2 PIP4K2A HGNC:8997 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1131 CDBP01130 Mitogen-activated protein kinase 7 Q13164 MK07_HUMAN true false Enzyme Homo_sapiens MAPK7 816 88385.5 5.68 Involved in MAP kinase activity Plays a role in various cellular processes such as proliferation, differentiation and cell survival. The upstream activator of MAPK7 is the MAPK kinase MAP2K5. Upon activation, it translocates to the nucleus and phosphorylates various downstream targets including MEF2C. EGF activates MAPK7 through a Ras- independent and MAP2K5-dependent pathway. May have a role in muscle cell differentiation. May be important for endothelial function and maintenance of blood vessel integrity. MAP2K5 and MAPK7 interact specifically with one another and not with MEK1/ERK1 or MEK2/ERK2 pathways ["None"] ["None"] NM_002749.3 20986497 MAPK7 Chromosome:1 17p11.2 MAPK7 HGNC:6880 true 2020-06-12T23:06:54Z 2020-07-28T02:26:28Z 1 0 0 1132 CDBP01131 Dual specificity testis-specific protein kinase 2 Q96S53 TESK2_HUMAN true false Enzyme Homo_sapiens TESK2 571 63638.8 7.06 Involved in protein kinase activity Dual specificity protein kinase activity catalyzing autophosphorylation and phosphorylation of exogenous substrates on both serine/threonine and tyrosine residues. Phosphorylates cofilin at 'Ser-3'. May play an important role in spermatogenesis ["None"] ["None"] AB057597 15207801 TESK2 Chromosome:1 1p32 TESK2 HGNC:11732 true 2020-06-12T23:06:54Z 2020-07-28T02:26:28Z 0 0 0 1133 CDBP01132 Ketohexokinase P50053 KHK_HUMAN true false Enzyme Homo_sapiens KHK 298 32730.055 5.93 Carbohydrate transport and metabolism 2HLZ;2HQQ;2HW1;3B3L;3NBV;3NBW;3NC2;3NC9;3NCA;3Q92;3QA2;3QAI;3RO4 NM_000221.2 4557693 KHK 2 2p23.3 KHK HGNC:6315 true hsa:3795 HS06437-MONOMER NP_000212.1:NM_000221.2;NP_006479.1:NM_006488.2 Most abundant in liver, kidney, gut, spleen and pancreas. Low levels also found in adrenal, muscle, brain and eye. Homodimer 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1134 CDBP01133 ATP synthase subunit epsilon, mitochondrial P56381 ATP5E_HUMAN true true Enzyme Homo_sapiens ATP5E 51 5779.7 10.53 Involved in hydrogen ion transporting ATP synthase activity, rotational mechanism Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(1) domain and of the central stalk which is part of the complex rotary element. Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits ["None"] ["None"] 1E79 AF052955 8117712 ATP5E Chromosome:2 20q13.32 ATP5E HGNC:838 true 2020-06-12T23:06:54Z 2020-07-28T02:26:28Z 0 0 0 1135 CDBP01134 cAMP-dependent protein kinase catalytic subunit gamma P22612 KAPCG_HUMAN true false Enzyme Homo_sapiens PRKACG 351 40434.2 8.89 Involved in protein serine/threonine kinase activity Phosphorylates a large number of substrates in the cytoplasm and the nucleus ["None"] ["None"] AJ001597 3115220 PRKACG Chromosome:9 9q13 PRKACG HGNC:9382 true 2020-06-12T23:06:54Z 2020-07-28T02:26:28Z 0 0 0 1136 CDBP01135 Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta isoform P42338 PK3CB_HUMAN true false Enzyme Homo_sapiens PIK3CB 1070 122761.2 7.09 Involved in binding Phosphorylates PtdIns, PtdIns4P and PtdIns(4,5)P2 with a preference for PtdIns(4,5)P2 ["None"] ["None"] S67334 PIK3CB Chromosome:3 3q22.3 PIK3CB HGNC:8976 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1137 CDBP01136 Bone morphogenetic protein receptor type-1A P36894 BMR1A_HUMAN false false Receptor Homo_sapiens BMPR1A 532 60196.9 7.61 Involved in transmembrane receptor protein serine/threonine kinase activity On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP-2 and BMP-4 ["1-23"] ["153-176"] AK291764 158256960 BMPR1A Chromosome:1 10q22.3 BMPR1A HGNC:1076 true 2020-06-12T23:06:54Z 2020-07-28T02:26:28Z 1 0 0 1138 CDBP01137 Cyclin-dependent kinase-like 5 O76039 CDKL5_HUMAN true false Enzyme Homo_sapiens CDKL5 1030 115536.8 10.08 Involved in protein kinase activity Mediates phosphorylation of MECP2 ["None"] ["None"] AL109798 57208543 CDKL5 CDKL5 HGNC:11411 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1139 CDBP01138 Wee1-like protein kinase P30291 WEE1_HUMAN true false Enzyme Homo_sapiens WEE1 646 71596.7 6.76 Involved in protein kinase activity May act as a negative regulator of entry into mitosis (G2 to M transition) by protecting the nucleus from cytoplasmically activated cyclin B1-complexed CDK1 before the onset of mitosis. Its activity increases during S and G2 phases and decreases at M phase when it is hyperphosphorylated. A correlated decrease in protein level occurs at M/G1 phase, probably due to its degradation. Specifically phosphorylates and inactivates cyclin B1-complexed CDK1 reaching a maximum during G2 phase and a minimum as cells enter M phase. Phosphorylation of cyclin B1-CDK1 occurs exclusively on 'Tyr-15' and phosphorylation of monomeric CDK1 does not occur ["None"] ["None"] U10564 WEE1 Chromosome:1 11p15.3-p15.1 WEE1 HGNC:12761 true 2020-06-12T23:06:54Z 2020-07-28T02:26:29Z 0 1 0 1140 CDBP01139 Myosin light chain kinase 2, skeletal/cardiac muscle Q9H1R3 MYLK2_HUMAN true false Enzyme Homo_sapiens MYLK2 596 64684.3 7.03 Involved in protein serine/threonine kinase activity Implicated in the level of global muscle contraction and cardiac function. Phosphorylates a specific serine in the N- terminus of a myosin light chain ["None"] ["None"] AF325549 13194657 MYLK2 Chromosome:2 20q13.31 MYLK2 HGNC:16243 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1141 CDBP01140 Cell division protein kinase 17 Q00537 CDK17_HUMAN true false Enzyme Homo_sapiens CDK17 523 59581.7 9.44 Involved in protein kinase activity May play a role in terminally differentiated neurons. Has a Ser/Thr-phosphorylating activity for histone H1 ["None"] ["None"] X66360 36617 CDK17 Chromosome:1 12q23.1 CDK17 HGNC:8750 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1142 CDBP01141 ATP synthase subunit delta, mitochondrial P30049 ATPD_HUMAN true true Enzyme Homo_sapiens ATP5D 168 17489.8 5.19 Involved in hydrogen ion transporting ATP synthase activity, rotational mechanism Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP turnover in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(1) domain and of the central stalk which is part of the complex rotary element. Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits ["None"] ["None"] 1E79 S87916 ATP5D Chromosome:1 19p13.3 ATP5D HGNC:837 true 2020-06-12T23:06:54Z 2020-07-28T02:26:29Z 0 0 0 1143 CDBP01142 Protein-tyrosine kinase 6 Q13882 PTK6_HUMAN true false Enzyme Homo_sapiens PTK6 451 51833.7 7.03 Involved in protein kinase activity Phosphorylates KHDRBS1, KHDRBS2, KHDRBS3 and STAP2/BKS. May function as an intracellular signal transducer in epithelial tissues. Overexpression in mammary cells leads to mitogenically sensitization to EGF, and results in a partially transformed phenotype. Its presence in the nucleus appears to be linked to suppression of tumor progression ["None"] ["None"] AK315232 189054826 PTK6 Chromosome:2 20q13.3 PTK6 HGNC:9617 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1144 CDBP01143 Serine/threonine-protein kinase PINK1, mitochondrial Q9BXM7 PINK1_HUMAN true false Enzyme Homo_sapiens PINK1 581 62768.4 9.59 Involved in protein kinase activity Protects against mitochondrial dysfunction during cellular stress, potentially by phosphorylating mitochondrial proteins ["None"] ["94-110"] AB053323 14149100 PINK1 Chromosome:1 1p36 PINK1 HGNC:14581 true 2020-06-12T23:06:54Z 2020-07-28T02:26:29Z 0 0 0 1145 CDBP01144 Tyrosine-protein kinase receptor TYRO3 Q06418 TYRO3_HUMAN true false Enzyme Homo_sapiens TYRO3 890 96904.4 5.39 Involved in protein kinase activity May be involved in cell adhesion processes, particularly in the central nervous system. In case of filovirus infection, seems to function as a cell entry factor ["1-40"] ["430-450"] 1RHF U05682 TYRO3 Chromosome:1 15q15 TYRO3 HGNC:12446 true 2020-06-12T23:06:54Z 2020-07-28T02:26:29Z 1 0 0 1146 CDBP01145 Serine/threonine-protein kinase A-Raf P10398 ARAF_HUMAN true false Enzyme Homo_sapiens ARAF 606 67584.8 9.3 Involved in intracellular signaling pathway Involved in the transduction of mitogenic signals from the cell membrane to the nucleus ["None"] ["None"] X04790 1340152 ARAF ARAF HGNC:646 true 2020-06-12T23:06:54Z 2020-07-28T02:26:29Z 1 0 0 1147 CDBP01146 Probable phospholipid-transporting ATPase IIA O75110 ATP9A_HUMAN true true Enzyme Homo_sapiens ATP9A 1047 118581.5 7.81 Involved in ATP binding ATP + H(2)O + phospholipid(In) = ADP + phosphate + phospholipid(Out) ["None"] ["70-91", "97-119", "304-325", "333-354", "842-862", "875-893", "924-942", "950-972", "979-999", "1007-1030"] NM_006045.1 65301139 ATP9A Chromosome:2 20q13.2 ATP9A HGNC:13540 true 2020-06-12T23:06:54Z 2020-07-28T02:26:29Z 0 1 0 1148 CDBP01147 Calcium/calmodulin-dependent protein kinase type 1D Q8IU85 KCC1D_HUMAN true false Enzyme Homo_sapiens CAMK1D 385 42913.4 7.23 Involved in protein kinase activity Calcium/calmodulin-dependent protein kinase belonging to a proposed calcium-triggered signaling cascade. May regulate calcium-mediated granulocyte function. May play a role in apoptosis of erythroleukemia cells. Activates MAP kinase MAPK3. In vitro, phosphorylates transcription factor CREM isoform Beta and probably CREB1 ["None"] ["None"] AB081726 CAMK1D Chromosome:1 10p13 CAMK1D HGNC:19341 true 2020-06-12T23:06:54Z 2020-07-28T02:26:29Z 0 0 0 1149 CDBP01148 Serine/threonine-protein kinase receptor R3 P37023 ACVL1_HUMAN false false Receptor Homo_sapiens ACVRL1 503 56124.0 7.64 Involved in receptor signaling protein serine/threonine kinase activity On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for TGF-beta. May bind activin as well ["1-21"] ["119-141"] Z22533 402197 ACVRL1 Chromosome:1 12q11-q14 ACVRL1 HGNC:175 true 2020-06-12T23:06:54Z 2020-07-28T02:26:29Z 1 0 0 1150 CDBP01149 ALK tyrosine kinase receptor Q9UM73 ALK_HUMAN true false Enzyme Homo_sapiens ALK 1620 176440.5 7.08 Involved in protein kinase activity Orphan receptor with a tyrosine-protein kinase activity. Appears to play an important role in the normal development and function of the nervous system. Phosphorylates almost exclusively at the first tyrosine of the Y-x-x-x-Y-Y motif ["1-18"] ["1039-1059"] U62540 2454168 ALK Chromosome:2 2p23 ALK HGNC:427 true 2020-06-12T23:06:54Z 2020-07-28T02:26:29Z 1 0 0 1151 CDBP01150 Sodium/potassium-transporting ATPase subunit beta-2 P14415 AT1B2_HUMAN true true Enzyme Homo_sapiens ATP1B2 290 33366.9 8.44 Involved in sodium:potassium-exchanging ATPase activity This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The exact function of the beta-2 subunit is not known ["None"] ["40-67"] M81181 179245 ATP1B2 Chromosome:1 17p13.1 ATP1B2 HGNC:805 true 2020-06-12T23:06:54Z 2020-07-28T02:26:29Z 0 0 0 1152 CDBP01151 Bone morphogenetic protein receptor type-1B O00238 BMR1B_HUMAN false false Receptor Homo_sapiens BMPR1B 502 56929.9 7.71 Involved in receptor signaling protein serine/threonine kinase activity On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMPS/OP-1 ["1-13"] ["127-148"] D89675 BMPR1B Chromosome:4 4q22-q24 BMPR1B HGNC:1077 true 2020-06-12T23:06:54Z 2020-07-28T02:26:30Z 1 0 0 1153 CDBP01152 Plasma membrane calcium-transporting ATPase 2 Q01814 AT2B2_HUMAN true true Enzyme Homo_sapiens ATP2B2 1243 136875.18 5.911 Involved in ATP binding This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell. NM_001001331.2 48255951 ATP2B2 3 3p25.3 ATP2B2 HGNC:815 true hsa:491 NP_001001331.1:NM_001001331.2;NP_001674.2:NM_001683.3 Mainly expressed in brain cortex. Found in low levels in skeletal muscle, heart muscle, stomach, liver, kidney and lung. Isoforms containing segment B are found in brain cortex and at low levels in other tissues. Isoforms containing segments X and W are found at low levels in all tissues. Isoforms containing segment A and segment Z are found at low levels in skeletal muscle and heart muscle. 2020-06-12T23:06:54Z 2020-07-28T02:26:30Z 1 1 0 1154 CDBP01153 Ribosomal protein S6 kinase alpha-4 O75676 KS6A4_HUMAN true false Enzyme Homo_sapiens RPS6KA4 772 85605.0 8.4 Involved in protein serine/threonine kinase activity Serine/threonine kinase that may play a role in mediating the growth-factor and stress induced activation of the transcription factor CREB. Essential role in the control of RELA transcriptional activity in response to TNF. Phosphorylates 'Ser- 10' of histone H3 in response to mitogenics, stress stimuli and epidemal growth-factor (EGF) and result in the transcriptional activation of several immediate early genes, including proto- oncogenes FOS and JUN. Mediates the mitogen- and stress-induced phosphorylation of high mobility group protein 14 (HMG-14) ["None"] ["None"] AJ010119 3452409 RPS6KA4 Chromosome:1 11q11-q13 RPS6KA4 HGNC:10433 true 2020-06-12T23:06:54Z 2020-07-28T02:26:30Z 0 1 0 1155 CDBP01154 Sodium/potassium-transporting ATPase subunit beta-1 P05026 AT1B1_HUMAN true true Enzyme Homo_sapiens ATP1B1 303 35061.1 8.73 Involved in sodium:potassium-exchanging ATPase activity This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane ["None"] ["35-62"] X03747 28933 ATP1B1 Chromosome:1 1q24 ATP1B1 HGNC:804 true 2020-06-12T23:06:54Z 2020-07-28T02:26:30Z 0 0 0 1156 CDBP01155 Proto-oncogene tyrosine-protein kinase Yes P07947 YES_HUMAN true false Enzyme Homo_sapiens YES1 543 60800.8 6.71 Involved in protein kinase activity Promotes infectivity of Neisseria gonorrhoeae in epithelial cells by phosphorylating MCP/CD46 ["None"] ["None"] M15990 YES1 Chromosome:1 18p11.31-p11.21 YES1 HGNC:12841 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1157 CDBP01156 Serine-protein kinase ATM Q13315 ATM_HUMAN true false Enzyme Homo_sapiens ATM 3056 350684.1 6.8 Involved in binding Serine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates 'Ser-139' of histone variant H2AX/H2AFX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism. Also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B lymphocytes. After the introduction of DNA breaks by the RAG complex on one immunoglobulin allele, acts by mediating a repositioning of the second allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. Also involved in signal transduction and cell cycle control. May function as a tumor suppressor. Necessary for activation of ABL1 and SAPK. Phosphorylates p53/TP53, FANCD2, NFKBIA, BRCA1, CTIP, nibrin (NBN), TERF1, RAD9 and DCLRE1C. May play a role in vesicle and/or protein transport. Could play a role in T-cell development, gonad and neurological function. Plays a role in replication-dependent histone mRNA degradation. Binds DNA ends ["None"] ["None"] NM_000051.3 71902540 ATM Chromosome:1 11q22-q23 ATM HGNC:795 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1158 CDBP01157 Dual specificity tyrosine-phosphorylation-regulated kinase 1B Q9Y463 DYR1B_HUMAN true false Enzyme Homo_sapiens DYRK1B 629 69197.2 9.43 Involved in protein kinase activity Dual-specificity kinase which possesses both serine/ threonine and tyrosine kinase activities. Enhances the transcriptional activity of TCF1/HNF1A and FOXO1. Inhibits epithelial cell migration. Mediates colon carcinoma cell survival in mitogen-poor environments ["None"] ["None"] AF205861 6538760 DYRK1B Chromosome:1 19q12-q13.1 DYRK1B HGNC:3092 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1159 CDBP01158 Fibroblast growth factor receptor 4 P22455 FGFR4_HUMAN true false Enzyme Homo_sapiens FGFR4 802 87953.5 6.81 Involved in protein kinase activity Receptor for acidic fibroblast growth factor. Does not bind to basic fibroblast growth factor. Binds FGF19 ["1-21"] ["370-390"] X57205 31372 FGFR4 Chromosome:5 5q35.1-qter FGFR4 HGNC:3691 true 2020-06-12T23:06:54Z 2020-07-28T02:26:30Z 1 0 0 1160 CDBP01159 MAP kinase-interacting serine/threonine-protein kinase 2 Q9HBH9 MKNK2_HUMAN true false Enzyme Homo_sapiens MKNK2 465 51874.4 6.12 Involved in protein serine/threonine kinase activity May play a role in the response to environmental stress and cytokines. Appears to regulate transcription by phosphorylating EIF4E, thus increasing the affinity of this protein for the 7-methylguanosine-containing mRNA cap ["None"] ["None"] NM_199054.2 40018627 MKNK2 Chromosome:1 19p13.3 MKNK2 HGNC:7111 true 2020-06-12T23:06:54Z 2020-07-28T02:26:30Z 0 0 1 1161 CDBP01160 Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha isoform P42336 PK3CA_HUMAN true false Enzyme Homo_sapiens PIK3CA 1068 124283.0 7.23 Involved in binding Phosphorylates PtdIns, PtdIns4P and PtdIns(4,5)P2 with a preference for PtdIns(4,5)P2 ["None"] ["None"] Z29090 472991 PIK3CA Chromosome:3 3q26.3 PIK3CA HGNC:8975 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1162 CDBP01161 TGF-beta receptor type-2 P37173 TGFR2_HUMAN false false Receptor Homo_sapiens TGFBR2 567 64567.1 5.74 Involved in receptor signaling protein serine/threonine kinase activity On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for TGF-beta ["1-22"] ["167-187"] 1KTZ NM_003242.5 67782324 TGFBR2 Chromosome:3 3p22 TGFBR2 HGNC:11773 true 2020-06-12T23:06:54Z 2020-07-28T02:26:31Z 1 1 0 1163 CDBP01162 Cytoplasmic tyrosine-protein kinase BMX P51813 BMX_HUMAN true false Enzyme Homo_sapiens BMX 675 78010.2 8.68 Involved in protein kinase activity Activity is required for interleukin 6 (IL-6) induced differentiation. May play a role in the growth and differentiation of hematopoietic cells. May be involved in signal transduction in endocardial and arterial endothelial cells ["None"] ["None"] NM_001721.6 4502435 BMX BMX HGNC:1079 true 2020-06-12T23:06:54Z 2020-07-28T02:26:31Z 0 1 0 1164 CDBP01163 Probable phospholipid-transporting ATPase VD Q9P241 AT10D_HUMAN true true Enzyme Homo_sapiens ATP10D 1426 160272.3 7.15 Involved in ATP binding ATP + H(2)O + phospholipid(In) = ADP + phosphate + phospholipid(Out) ["None"] ["98-118", "122-142", "322-342", "366-386", "1114-1134", "1146-1166", "1196-1216", "1225-1245", "1253-1273", "1293-1313"] NM_020453.3 222352161 ATP10D Chromosome:4 4p12 ATP10D HGNC:13549 true 2020-06-12T23:06:54Z 2020-07-28T02:26:31Z 0 1 0 1165 CDBP01164 Serine/threonine-protein kinase pim-3 Q86V86 PIM3_HUMAN true false Enzyme Homo_sapiens PIM3 326 35890.8 6.05 Involved in protein kinase activity Able to phosphorylate CDKN1B in vitro. Involved in cell cycle progression and suppression of apoptosis. Implicated in proliferation of human hepatoma cell lines ["None"] ["None"] AB114795 51870677 PIM3 Chromosome:2 22q13 PIM3 HGNC:19310 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1166 CDBP01165 Hormonally up-regulated neu tumor-associated kinase P57058 HUNK_HUMAN true false Enzyme Homo_sapiens HUNK 714 79684.8 9.54 Involved in protein serine/threonine kinase activity ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] AJ271722 6850973 HUNK Chromosome:2 21q22.1 HUNK HGNC:13326 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1167 CDBP01166 Serine/threonine-protein kinase 38-like Q9Y2H1 ST38L_HUMAN true false Enzyme Homo_sapiens STK38L 464 54002.4 6.8 Involved in protein serine/threonine kinase activity Involved in the regulation of structural processes in differentiating and mature neuronal cells ["None"] ["None"] NM_015000.3 24307971 STK38L Chromosome:1 12p11.23 STK38L HGNC:17848 true 2020-06-12T23:06:54Z 2020-07-28T02:26:31Z 0 0 0 1168 CDBP01167 MAP/microtubule affinity-regulating kinase 4 Q96L34 MARK4_HUMAN true false Enzyme Homo_sapiens MARK4 752 82518.9 10.18 Involved in protein serine/threonine kinase activity ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] AB088047 21743250 MARK4 Chromosome:1 19q13.3 MARK4 HGNC:13538 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1169 CDBP01168 Transient receptor potential cation channel subfamily M member 6 Q9BX84 TRPM6_HUMAN false true Receptor Homo_sapiens TRPM6 2022 231705.9 7.82 Involved in ion channel activity Essential ion channel and serine/threonine-protein kinase. Crucial for magnesium homeostasis. Has an important role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Isoforms of the type M6-kinase lack the ion channel region ["None"] ["742-762", "842-862", "906-926", "940-960", "973-993", "1048-1068"] AF350881 TRPM6 Chromosome:9 9q21.13 TRPM6 HGNC:17995 true 2020-06-12T23:06:54Z 2020-07-28T02:26:31Z 1 0 0 1170 CDBP01169 Insulin receptor-related protein P14616 INSRR_HUMAN true false Enzyme Homo_sapiens INSRR 1297 143718.7 6.44 Involved in transmembrane receptor protein tyrosine kinase activity This receptor probably binds an insulin related protein and has a tyrosine-protein kinase activity. It phosphorylates the insulin receptor substrates IRS-1 and IRS-2 ["1-26"] ["922-943"] NM_014215.1 31657140 INSRR Chromosome:1 1q21-q23 INSRR HGNC:6093 true 2020-06-12T23:06:54Z 2020-07-28T02:26:31Z 1 0 0 1171 CDBP01170 Ephrin type-A receptor 2 P29317 EPHA2_HUMAN true false Enzyme Homo_sapiens EPHA2 976 108265.6 6.14 Involved in ephrin receptor activity Receptor for members of the ephrin-A family. Binds to ephrin-A1, -A3, -A4 and -A5. Plays an important role in angiogenesis and tumor neovascularization. The recruitement of VAV2, VAV3 and PI3-kinase p85 subunit by phosphorylated EPHA2 is critical for EFNA1-induced RAC1 GTPase activation and vascular endothelial cell migration and assembly. Induces apoptosis in a TP53/p53-independent, caspase-8-dependent manner ["1-24"] ["535-558"] 1MQB AL451042 55665160 EPHA2 Chromosome:1 1p36 EPHA2 HGNC:3386 true 2020-06-12T23:06:54Z 2020-07-28T02:26:31Z 1 0 0 1172 CDBP01171 Probable phospholipid-transporting ATPase IB Q9NTI2 AT8A2_HUMAN true true Enzyme Homo_sapiens ATP8A2 1148 129240.4 7.84 Involved in ATP binding ATP + H(2)O + phospholipid(In) = ADP + phosphate + phospholipid(Out) ["None"] ["45-66", "72-94", "277-298", "324-345", "838-858", "871-890", "921-942", "957-979", "986-1006", "1025-1049"] NM_016529 117168245 ATP8A2 Chromosome:1 13q12 ATP8A2 HGNC:13533 true 2020-06-12T23:06:54Z 2020-07-28T02:26:31Z 0 1 0 1173 CDBP01172 Serine/threonine-protein kinase Chk2 O96017 CHK2_HUMAN true false Enzyme Homo_sapiens CHEK2 543 60914.3 5.72 Involved in protein kinase activity Regulates cell cycle checkpoints and apoptosis in response to DNA damage, particularly to DNA double-strand breaks. Inhibits CDC25C phosphatase by phosphorylation on 'Ser-216', preventing the entry into mitosis. May also play a role in meiosis. Regulates the TP53 tumor suppressor through phosphorylation at 'Thr-18' and 'Ser-20' ["None"] ["None"] 1GXC AF086904 CHEK2 Chromosome:2 22q11|22q12.1 CHEK2 HGNC:16627 true 2020-06-12T23:06:54Z 2020-07-28T02:26:32Z 0 0 0 1174 CDBP01173 Calcium-transporting ATPase type 2C member 2 O75185 AT2C2_HUMAN true true Enzyme Homo_sapiens ATP2C2 946 103186.475 5.652 Involved in ATP binding This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium (By similarity). AY791884 55668314 ATP2C2 16 16q24.1 ATP2C2 HGNC:29103 true hsa:9914 NP_055676.2:NM_014861.2 2020-06-12T23:06:54Z 2020-07-28T02:26:32Z 0 1 0 1175 CDBP01174 Phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing subunit beta O00750 P3C2B_HUMAN true false Enzyme Homo_sapiens PIK3C2B 1634 184766.1 7.3 Involved in binding Phosphorylates PtdIns and PtdIns4P with a preference for PtdIns. Does not phosphorylate PtdIns(4,5)P2. May be involved in EGF and PDGF signaling cascades ["None"] ["None"] Y11312 2076604 PIK3C2B Chromosome:1 1q32 PIK3C2B HGNC:8972 true 2020-06-12T23:06:54Z 2020-07-28T02:26:32Z 0 0 0 1176 CDBP01175 Serine/threonine-protein kinase PAK 6 Q9NQU5 PAK6_HUMAN true false Enzyme Homo_sapiens PAK6 681 74868.1 10.06 Involved in protein kinase activity The activated kinase acts on a variety of targets ["None"] ["None"] AF276893 9082306 PAK6 Chromosome:1 15q14 PAK6 HGNC:16061 true 2020-06-12T23:06:54Z 2020-07-28T02:26:32Z 0 0 0 1177 CDBP01176 Dual specificity protein kinase CLK1 P49759 CLK1_HUMAN true false Enzyme Homo_sapiens CLK1 484 57290.1 9.11 Involved in protein kinase activity Phosphorylates serine- and arginine-rich (SR) proteins of the spliceosomal complex may be a constituent of a network of regulatory mechanisms that enable SR proteins to control RNA splicing. Phosphorylates serines, threonines and tyrosines ["None"] ["None"] 1Z57 AC005037 62822173 CLK1 Chromosome:2 2q33 CLK1 HGNC:2068 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1178 CDBP01177 Sarcoplasmic/endoplasmic reticulum calcium ATPase 3 Q93084 AT2A3_HUMAN true true Enzyme Homo_sapiens ATP2A3 1043 109255.08 5.518 Involved in ATP binding This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium. Transports calcium ions from the cytosol into the sarcoplasmic/endoplasmic reticulum lumen. Contributes to calcium sequestration involved in muscular excitation/contraction. NM_174955.1 28373109 ATP2A3 17 17p13.3 ATP2A3 HGNC:813 true hsa:489 NP_005164.2:NM_005173.3;NP_777613.1:NM_174953.2;NP_777614.1:NM_174954.2;NP_777615.1:NM_174955.2;NP_777616.1:NM_174956.2;NP_777617.1:NM_174957.2;NP_777618.1:NM_174958.2 Found in most tissues. Most abundant in thymus, trachea, salivary gland, spleen, bone marrow, lymph node, peripheral leukocytes, pancreas and colon. Also detected in fetal tissues. Expressed in cell lineages of hematopoietic, epithelial, or embryonic origin and also expressed in several cancer cell lines. 2020-06-12T23:06:54Z 2020-07-28T02:26:32Z 0 1 0 1179 CDBP01178 Tyrosine-protein kinase HCK P08631 HCK_HUMAN true false Enzyme Homo_sapiens HCK 526 59599.4 6.68 Involved in protein kinase activity May serve as part of a signaling pathway coupling the Fc receptor to the activation of the respiratory burst. May also contribute to neutrophil migration and may regulate the degranulation process of neutrophils ["None"] ["None"] 1QCF NM_002110.3 30795229 HCK Chromosome:2 20q11-q12 HCK HGNC:4840 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1180 CDBP01179 V-type proton ATPase subunit C 1 P21283 VATC1_HUMAN true false Enzyme Homo_sapiens ATP6V1C1 382 43941.2 7.58 Involved in hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit C is necessary for the assembly of the catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells ["None"] ["None"] X69151 37643 ATP6V1C1 Chromosome:8 8q22.3 ATP6V1C1 HGNC:856 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1181 CDBP01180 Serine/threonine-protein kinase Sgk1 O00141 SGK1_HUMAN true false Enzyme Homo_sapiens SGK1 431 48942.0 8.81 Involved in protein serine/threonine kinase activity Protein kinase that plays an important role in cellular stress response. Activates certain potassium, sodium, and chloride channels, suggesting an involvement in the regulation of processes such as cell survival, neuronal excitability and renal sodium excretion. Sustained high levels and activity may contribute to conditions such as hypertension and diabetic nephropathy. Mediates cell survival signals, phosphorylates and negatively regulates pro-apoptotic FOXO3A. Phosphorylates NEDD4L, which leads to its inactivation and to the subsequent activation of various channels and transporters such as ENaC, KCNA3/Kv1.3 or EAAT1. Isoform 2 exhibited a greater effect on cell plasma membrane expression of ENaC and Na(+) transport than isoform 1 ["None"] ["None"] Y10032 1834511 SGK1 Chromosome:6 6q23 SGK1 HGNC:10810 true 2020-06-12T23:06:54Z 2020-07-28T02:26:33Z 0 0 0 1182 CDBP01181 Death-associated protein kinase 1 P53355 DAPK1_HUMAN true false Enzyme Homo_sapiens DAPK1 1430 160071.6 6.82 Involved in protein binding Calcium/calmodulin-dependent serine/threonine kinase which acts as a positive regulator of apoptosis ["None"] ["None"] 1JKT NM_004938.2 89363047 DAPK1 Chromosome:9 9q34.1 DAPK1 HGNC:2674 true 2020-06-12T23:06:54Z 2020-07-28T02:26:33Z 0 0 0 1183 CDBP01182 Homeodomain-interacting protein kinase 3 Q9H422 HIPK3_HUMAN true false Enzyme Homo_sapiens HIPK3 1215 133742.1 7.46 Involved in protein kinase activity Seems to negatively regulate apoptosis by promoting FADD phosphorylation. Enhances androgen receptor-mediated transcription. May act as a transcriptional corepressor for NK homeodomain transcription factors ["None"] ["None"] AF004849 2627331 HIPK3 Chromosome:1 11p13 HIPK3 HGNC:4915 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1184 CDBP01183 Beta-adrenergic receptor kinase 1 P25098 ARBK1_HUMAN true false Enzyme Homo_sapiens ADRBK1 689 79573.0 7.3 Involved in protein serine/threonine kinase activity Specifically phosphorylates the agonist-occupied form of the beta-adrenergic and closely related receptors, probably inducing a desensitization of them. Key regulator of LPAR1 signaling. Competes with RALA for binding to LPAR1 thus affecting the signaling properties of the receptor. Desensitizes LPAR1 and LPAR2 in a phosphorylation-independent manner ["None"] ["None"] 1OMW X61157 288308 ADRBK1 Chromosome:1 11q13.1 ADRBK1 HGNC:289 true 2020-06-12T23:06:54Z 2020-07-28T02:26:33Z 1 0 0 1185 CDBP01184 Mitogen-activated protein kinase 3 P27361 MK03_HUMAN true false Enzyme Homo_sapiens MAPK3 379 43135.2 6.74 Involved in MAP kinase activity Involved in both the initiation and regulation of meiosis, mitosis, and postmitotic functions in differentiated cells by phosphorylating a number of transcription factors such as ELK-1. Phosphorylates EIF4EBP1; required for initiation of translation. Phosphorylates microtubule-associated protein 2 (MAP2). Phosphorylates SPZ1. Phosphorylates heat shock factor protein 4 (HSF4) ["None"] ["None"] X60188 31221 MAPK3 Chromosome:1 16p11.2 MAPK3 HGNC:6877 true 2020-06-12T23:06:54Z 2020-07-28T02:26:33Z 1 0 0 1186 CDBP01185 Serine/threonine-protein kinase Nek6 Q9HC98 NEK6_HUMAN true false Enzyme Homo_sapiens NEK6 313 35714.1 8.12 Involved in protein kinase activity Activated during M phase. Required for chromosome segregation at metaphase-anaphase transition and therefore for mitotic progression. Inhibition of activity results in apoptosis. Phosphorylates KIF11 to promote mitotic spindle formation ["None"] ["None"] NM_001166168.1 261244923 NEK6 Chromosome:9 9q33.3-q34.11 NEK6 HGNC:7749 true 2020-06-12T23:06:54Z 2020-07-28T02:26:33Z 0 0 0 1187 CDBP01186 Discoidin domain-containing receptor 2 Q16832 DDR2_HUMAN true false Enzyme Homo_sapiens DDR2 855 96735.4 5.01 Involved in cell adhesion This tyrosine kinase receptor for fibrillar collagen mediates fibroblast migration and proliferation. Contributes to cutaneous wound healing ["1-21"] ["400-421"] AK095975 193788289 DDR2 Chromosome:1 1q23.3 DDR2 HGNC:2731 true 2020-06-12T23:06:54Z 2020-07-28T02:26:33Z 1 0 0 1188 CDBP01187 Serine/threonine-protein kinase 10 O94804 STK10_HUMAN true false Enzyme Homo_sapiens STK10 968 112134.4 6.94 Involved in protein kinase activity Can act on substrates such as myelin basic protein and histone 2A on serine and threonine residues ["None"] ["None"] AB015718 4001688 STK10 Chromosome:5 5q35.1 STK10 HGNC:11388 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1189 CDBP01188 Serine/threonine-protein kinase PAK 4 O96013 PAK4_HUMAN true false Enzyme Homo_sapiens PAK4 591 64071.5 10.35 Involved in protein kinase activity Activates the JNK pathway. Plays a role in the reorganization of the actin cytoskeleton and in the formation of filopodia. Phosphorylates and inactivates the protein phosphatase SSH1, leading to increased inhibitory phosphorylation of the actin binding/depolymerizing factor cofilin. Decreased cofilin activity may lead to stabilization of actin filaments. Phosphorylates ARHGEF2 ["None"] ["None"] NM_001014831.2 62422554 PAK4 Chromosome:1 19q13.2 PAK4 HGNC:16059 true 2020-06-12T23:06:54Z 2020-07-28T02:26:33Z 0 0 0 1190 CDBP01189 Cell division protein kinase 13 Q14004 CDK13_HUMAN true false Enzyme Homo_sapiens CDK13 1512 164921.5 10.28 Involved in protein kinase activity May be a controller of the mitotic cell cycle. Involved in the blood cell development ["None"] ["None"] NM_003718.4 145309302 CDK13 Chromosome:7 7p13 CDK13 HGNC:1733 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1191 CDBP01190 NUAK family SNF1-like kinase 1 O60285 NUAK1_HUMAN true false Enzyme Homo_sapiens NUAK1 661 74304.5 9.13 Involved in protein kinase activity Involved in tolerance to glucose starvation. Phosphorylates ATM. Suppresses Fas-induced apoptosis by phosphorylation of CASP6, thus suppressing the activation of the caspase and the subsequent cleavage of CFLAR ["None"] ["None"] NM_014840.2 7662170 NUAK1 Chromosome:1 12q23.3 NUAK1 HGNC:14311 true 2020-06-12T23:06:54Z 2020-07-28T02:26:33Z 0 0 0 1192 CDBP01191 Serine/threonine-protein kinase VRK1 Q99986 VRK1_HUMAN true false Enzyme Homo_sapiens VRK1 396 45475.7 9.29 Involved in protein kinase activity Serine/threonine kinase that phosphorylates 'Thr-18' of p53/TP53 and may thereby prevent the interaction between p53/TP53 and MDM2 ["None"] ["None"] AB000449 1827450 VRK1 Chromosome:1 14q32 VRK1 HGNC:12718 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1193 CDBP01192 Proto-oncogene serine/threonine-protein kinase pim-1 P11309 PIM1_HUMAN true false Enzyme Homo_sapiens PIM1 404 45411.9 7.01 Involved in protein kinase activity May affect the structure or silencing of chromatin by phosphorylating HP1 gamma/CBX3. Isoform 2 promotes the G1/S transition of the cell cycle via up-regulation of CDK2 activity and phosphorylation of CDKN1B, resulting in enhanced nuclear export and proteasome-dependent degradation of CDKN1B. Isoform 2 also represses CDKN1B transcription by phosphorylating and inactivating the transcription factor FOXO3. Plays a role in signal transduction in blood cells. Contributes to both cell proliferation and survival and thus provides a selective advantage in tumorigenesis ["None"] ["None"] 1XWS DQ022562 68165002 PIM1 Chromosome:6 6p21.2 PIM1 HGNC:8986 true 2020-06-12T23:06:54Z 2020-07-28T02:26:33Z 0 0 0 1194 CDBP01193 Vascular endothelial growth factor receptor 2 P35968 VGFR2_HUMAN true false Enzyme Homo_sapiens KDR 1356 151525.6 5.64 Involved in protein kinase activity Receptor for VEGF or VEGFC. Has a tyrosine-protein kinase activity. The VEGF-kinase ligand/receptor signaling system plays a key role in vascular development and regulation of vascular permeability. In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposi's sarcoma lesions ["1-19"] ["765-789"] AF035121 KDR Chromosome:4 4q11-q12 KDR HGNC:6307 true 2020-06-12T23:06:54Z 2020-07-28T02:26:34Z 1 0 0 1195 CDBP01194 V-type proton ATPase subunit G 2 O95670 VATG2_HUMAN true false Enzyme Homo_sapiens ATP6V1G2 118 13604.3 10.9 Involved in hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells ["None"] ["None"] AB063177 21623504 ATP6V1G2 Chromosome:6 6p21.3 ATP6V1G2 HGNC:862 true 2020-06-12T23:06:54Z 2020-06-12T23:06:54Z 0 0 0 1196 CDBP01195 ATP synthase subunit O, mitochondrial P48047 ATPO_HUMAN true true Enzyme Homo_sapiens ATP5O 213 23277.1 10.61 Involved in hydrogen ion transporting ATP synthase activity, rotational mechanism Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain and the peripheric stalk, which acts as a stator to hold the catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 static relative to the rotary elements ["None"] ["None"] X83218 1008080 ATP5O Chromosome:2 21q22.1-q22.2|21q22.11 ATP5O HGNC:850 true 2020-06-12T23:06:54Z 2020-07-28T02:26:34Z 0 0 0 1197 CDBP01196 1-phosphatidylinositol-3-phosphate 5-kinase Q9Y2I7 FYV1_HUMAN true false Enzyme Homo_sapiens PIKFYVE 2098 237134.1 6.67 Involved in protein binding The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol-3,5-bisphosphate (PtdIns(3,5)P2). Catalyzes the phosphorylation of phosphatidylinositol-3-phosphate on the fifth hydroxyl of the myo- inositol ring, to form phosphatidylinositol-3,5-bisphosphate. Required for endocytic-vacuolar pathway and nuclear migration. Plays a role in the biogenesis of endosome carrier vesicles (ECV)/ multivesicular bodies (MVB) transport intermediates from early endosomes ["None"] ["None"] NM_015040.3 121583483 PIKFYVE Chromosome:2 2q34 PIKFYVE HGNC:23785 true 2020-06-12T23:06:54Z 2020-07-28T02:26:34Z 0 1 0 1198 CDBP01197 BR serine/threonine-protein kinase 2 Q8IWQ3 BRSK2_HUMAN true false Enzyme Homo_sapiens BRSK2 736 81632.6 9.11 Involved in protein kinase activity Required for the polarization of forebrain neurons which endows axons and dendrites with distinct properties, possibly by locally regulating phosphorylation of microtubule-associated proteins ["None"] ["None"] AF533879 33187744 BRSK2 Chromosome:1 11p15.5 BRSK2 HGNC:11405 true 2020-06-12T23:06:54Z 2020-07-28T02:26:34Z 0 0 0 1199 CDBP01198 Serine/threonine-protein kinase MARK1 Q9P0L2 MARK1_HUMAN true false Enzyme Homo_sapiens MARK1 795 89001.8 9.88 Involved in protein serine/threonine kinase activity May play a role in cytoskeletal stability ["None"] ["None"] NM_018650.3 153791472 MARK1 Chromosome:1 1q41 MARK1 HGNC:6896 true 2020-06-12T23:06:55Z 2020-07-28T02:26:34Z 0 0 0 1200 CDBP01199 Serine/threonine-protein kinase pim-2 Q9P1W9 PIM2_HUMAN true false Enzyme Homo_sapiens PIM2 311 34190.0 5.79 Involved in protein kinase activity Promotes cell survival in response to a variety of proliferative signals via positive regulation of the I-kappaB kinase/NF-kappaB cascade; this process requires phosphorylation of MAP3K8/COT. Prevents apoptosis induced by growth factor withdrawal via inhibition of caspase-3 activation, and via phosphorylation of pro-apoptotic proteins. Inhibits BAD-induced cell death via phosphorylation of BAD. PIM2-mediated cell survival is glucose- dependent but independent of several AKT regulators such as PI3K, HSP-90 and TOR, indicating that PIM2 and PI3K/AKT/TOR function via distinct pathways. Involved in the positive regulation of chondrocyte survival and autophagy in the epiphyseal growth plate ["None"] ["None"] AB042425 7770095 PIM2 PIM2 HGNC:8987 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1201 CDBP01200 Serine/threonine-protein kinase Nek3 P51956 NEK3_HUMAN true false Enzyme Homo_sapiens NEK3 506 57704.2 7.18 Involved in protein kinase activity Kinase that may play a role in mitotic regulation ["None"] ["None"] NM_002498.2 23510391 NEK3 Chromosome:1 13q14.13 NEK3 HGNC:7746 true 2020-06-12T23:06:55Z 2020-07-28T02:26:34Z 0 0 0 1202 CDBP01201 Focal adhesion kinase 1 Q05397 FAK1_HUMAN true false Enzyme Homo_sapiens PTK2 1052 119232.0 6.61 Involved in binding Non-receptor protein-tyrosine kinase implicated in signaling pathways involved in cell motility, proliferation and apoptosis. Activated by tyrosine-phosphorylation in response to either integrin clustering induced by cell adhesion or antibody cross-linking, or via G-protein coupled receptor (GPCR) occupancy by ligands such as bombesin or lysophosphatidic acid, or via LDL receptor occupancy. Plays a potential role in oncogenic transformations resulting in increased kinase activity ["None"] ["None"] 1MP8 L13616 PTK2 Chromosome:8 8q24.3 PTK2 HGNC:9611 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1203 CDBP01202 ATP synthase-coupling factor 6, mitochondrial P18859 ATP5J_HUMAN true true Enzyme Homo_sapiens ATP5J 108 12587.4 10.17 Involved in hydrogen ion transmembrane transporter activity Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain and the peripheric stalk, which acts as a stator to hold the catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 static relative to the rotary elements. Also involved in the restoration of oligomycin-sensitive ATPase activity to depleted F1-F0 complexes ["None"] ["None"] AL110183 5817096 ATP5J Chromosome:2 21q21.1 ATP5J HGNC:847 true 2020-06-12T23:06:55Z 2020-07-28T02:26:34Z 0 0 0 1204 CDBP01203 Ribosomal protein S6 kinase alpha-1 Q15418 KS6A1_HUMAN true false Enzyme Homo_sapiens RPS6KA1 735 82722.4 7.94 Involved in protein serine/threonine kinase activity Serine/threonine kinase that may play a role in mediating the growth-factor and stress induced activation of the transcription factor CREB ["None"] ["None"] L07597 292457 RPS6KA1 Chromosome:1 1p RPS6KA1 HGNC:10430 true 2020-06-12T23:06:55Z 2020-07-28T02:26:34Z 0 1 0 1205 CDBP01204 Bifunctional polynucleotide phosphatase/kinase Q96T60 PNKP_HUMAN true false Enzyme Homo_sapiens PNKP 521 57075.9 8.46 Involved in ATP binding Plays a key role in the repair of DNA damage, functioning as part of both the non-homologous end-joining (NHEJ) and base excision repair (BER) pathways. Through its two catalytic activities, PNK ensures that DNA termini are compatible with extension and ligation by either removing 3'-phosphates from, or by phosphorylating 5'-hydroxyl groups on, the ribose sugar of the DNA backbone. 2BRF;2W3O NM_007254.3 31543419 PNKP 19 19q13.3-q13.4 PNKP HGNC:9154 true hsa:11284 NP_009185.2:NM_007254.3 Expressed in many tissues with highest expression in spleen and testis, and lowest expression in small intestine (PubMed:10446192). Expressed in higher amount in pancreas, heart and kidney and at lower levels in brain, lung and liver (PubMed:10446193). Monomer 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1206 CDBP01205 Serine/threonine-protein kinase 35 Q8TDR2 STK35_HUMAN true false Enzyme Homo_sapiens STK35 534 58050.8 10.29 Involved in protein kinase activity ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] NM_080836.3 260099625 STK35 Chromosome:2 20p13 STK35 HGNC:16254 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1207 CDBP01206 Inositol polyphosphate multikinase Q8NFU5 IPMK_HUMAN true false Enzyme Homo_sapiens IPMK 416 47221.455 7.634 Involved in inositol trisphosphate 3-kinase activity Inositol phosphate kinase with a broad substrate specificity. Has a preference for inositol 1,4,5-trisphosphate (Ins(1,4,5)P3) and inositol 1,3,4,6-tetrakisphosphate (Ins(1,3,4,6)P4). AF432853 22532105 IPMK 10 10q21.1 IPMK HGNC:20739 true hsa:253430 HS07712-MONOMER NP_689416.1:NM_152230.4 Ubiquitous, with the highest expression in skeletal muscle, liver, placenta, lung, peripheral blood leukocytes, kidney, spleen and colon. 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1208 CDBP01207 Serine/threonine-protein kinase PRP4 homolog Q13523 PRP4B_HUMAN true false Enzyme Homo_sapiens PRPF4B 1007 116971.7 10.96 Involved in protein kinase activity Has a role in pre-mRNA splicing. Phosphorylates SF2/ASF ["None"] ["None"] NM_003913.4 89276756 PRPF4B Chromosome:6 6p25.2 PRPF4B HGNC:17346 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1209 CDBP01208 TGF-beta receptor type-1 P36897 TGFR1_HUMAN false false Receptor Homo_sapiens TGFBR1 503 55959.2 7.59 Involved in transmembrane receptor protein serine/threonine kinase activity On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for TGF-beta ["1-24"] ["126-147"] 1IAS L11695 47937325 TGFBR1 Chromosome:9 9q22 TGFBR1 HGNC:11772 true 2020-06-12T23:06:55Z 2020-07-28T02:26:35Z 1 0 0 1210 CDBP01209 Serine/threonine-protein kinase PLK4 O00444 PLK4_HUMAN true false Enzyme Homo_sapiens PLK4 970 108971.1 8.83 Involved in protein binding Serine/threonine-protein kinase that plays a central role in centriole duplication. Able to trigger procentriole formation on the surface of the parental centriole cylinder, leading to the recruitment of centriole biogenesis proteins such as SASS6, CENPJ/CPAP, CP110, CEP135 and gamma-tubulin. When overexpressed, it is able to induce centrosome amplification through the simultaneous generation of multiple procentrioles adjoining each parental centriole during S phase. Its central role in centriole replication suggests a posible role in tumorigenesis, centrosome aberrations being frequently observed in tumors. Also involved in trophoblast differentiation by phosphorylating HAND1, leading to disrupt the interaction between HAND1 and MDFIC and activate HAND1. Phosphorylates CDC25C and CHEK2/CHK2 ["None"] ["None"] AB006972 16215696 PLK4 Chromosome:4 4q28 PLK4 HGNC:11397 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1211 CDBP01210 Polyribonucleotide nucleotidyltransferase 1, mitochondrial Q8TCS8 PNPT1_HUMAN true false Enzyme Homo_sapiens PNPT1 783 85949.84 7.769 Involved in 3'-5'-exoribonuclease activity RNA-binding protein implicated in numerous RNA metabolic processes. Hydrolyzes single-stranded polyribonucleotides processively in the 3'-to-5' direction. Mitochondrial intermembrane factor with RNA-processing exoribonulease activity. Component of the mitochondrial degradosome (mtEXO) complex, that degrades 3' overhang double-stranded RNA with a 3'-to-5' directionality in an ATP-dependent manner. Required for correct processing and polyadenylation of mitochondrial mRNAs. Plays a role as a cytoplasmic RNA import factor that mediates the translocation of small RNA components, like the 5S RNA, the RNA subunit of ribonuclease P and the mitochondrial RNA-processing (MRP) RNA, into the mitochondrial matrix. Plays a role in mitochondrial morphogenesis and respiration; regulates the expression of the electron transport chain (ETC) components at the mRNA and protein levels. In the cytoplasm, shows a 3'-to-5' exoribonuclease mediating mRNA degradation activity; degrades c-myc mRNA upon treatment with IFNB1/IFN-beta, resulting in a growth arrest in melanoma cells. Regulates the stability of specific mature miRNAs in melanoma cells; specifically and selectively degrades miR-221, preferentially. Plays also a role in RNA cell surveillance by cleaning up oxidized RNAs. Binds to the RNA subunit of ribonuclease P, MRP RNA and miR-221 microRNA. 3U1K AC015982 62988884 PNPT1 2 2p15 PNPT1 HGNC:23166 true hsa:87178 NP_149100.2:NM_033109.4 Homotrimer; in free form. Homooligomer. Component of the mitochondrial degradosome (mtEXO) complex which is a heteropentamer containing 2 copies of SUPV3L1 and 3 copies of PNPT1. Interacts with TCL1A; the interaction has no effect on PNPT1 exonuclease activity 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1212 CDBP01211 Non-receptor tyrosine-protein kinase TNK1 Q13470 TNK1_HUMAN true false Enzyme Homo_sapiens TNK1 666 72467.0 9.94 Involved in protein kinase activity Involved in negative regulation of cell growth. Has tumor suppressor properties. Plays a negative regulatory role in the Ras-MAPK pathway. May function in signaling pathways utilized broadly during fetal development and more selectively in adult tissues and in cells of the lymphohematopoietic system. Could specifically be involved in phospholipid signal transduction ["None"] ["None"] U43408 1256003 TNK1 Chromosome:1 17p13.1 TNK1 HGNC:11940 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1213 CDBP01212 Beta-adrenergic receptor kinase 2 P35626 ARBK2_HUMAN true false Enzyme Homo_sapiens ADRBK2 688 79709.1 7.67 Involved in protein serine/threonine kinase activity Specifically phosphorylates the agonist-occupied form of the beta-adrenergic and closely related receptors ["None"] ["None"] X69117 312395 ADRBK2 Chromosome:2 22q11|22q12.1 ADRBK2 HGNC:290 true 2020-06-12T23:06:55Z 2020-07-28T02:26:35Z 1 0 0 1214 CDBP01213 Cell division protein kinase 12 Q9NYV4 CDK12_HUMAN true false Enzyme Homo_sapiens CDK12 1490 164153.0 10.0 Involved in protein kinase activity Involved in RNA splicing ["None"] ["None"] NM_016507.2 157817023 CDK12 Chromosome:1 17q12 CDK12 HGNC:24224 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1215 CDBP01214 V-type proton ATPase subunit B, kidney isoform P15313 VATB1_HUMAN true true Enzyme Homo_sapiens ATP6V1B1 513 56832.5 5.37 Involved in ATP binding Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells ["None"] ["None"] AK223151 62897863 ATP6V1B1 Chromosome:2 2p13.1 ATP6V1B1 HGNC:853 true 2020-06-12T23:06:55Z 2020-07-28T02:26:35Z 0 0 0 1216 CDBP01215 Calcium/calmodulin-dependent protein kinase type 1G Q96NX5 KCC1G_HUMAN true false Enzyme Homo_sapiens CAMK1G 476 53086.5 7.78 Involved in protein kinase activity Calcium/calmodulin-dependent protein kinase belonging to a proposed calcium-triggered signaling cascade. In vitro phosphorylates transcription factor CREB1 ["None"] ["None"] AF428261 16755792 CAMK1G Chromosome:1 1q32-q41 CAMK1G HGNC:14585 true 2020-06-12T23:06:55Z 2020-07-28T02:26:35Z 0 0 0 1217 CDBP01216 Ephrin type-B receptor 4 P54760 EPHB4_HUMAN true false Enzyme Homo_sapiens EPHB4 987 108269.3 6.89 Involved in ephrin receptor activity Receptor for members of the ephrin-B family. Binds to ephrin-B2. May have a role in events mediating differentiation and development ["1-15"] ["540-560"] AF312032 13383505 EPHB4 Chromosome:7 7q22 EPHB4 HGNC:3395 true 2020-06-12T23:06:55Z 2020-07-28T02:26:35Z 1 0 0 1218 CDBP01217 Testis-specific serine/threonine-protein kinase 2 Q96PF2 TSSK2_HUMAN true false Enzyme Homo_sapiens TSSK2 358 40938.8 9.13 Involved in protein kinase activity Involved in the late stages of spermatogenesis, during the reconstruction of the cytoplasm ["None"] ["None"] AF362953 15430703 TSSK2 Chromosome:2 22q11.21 TSSK2 HGNC:11401 true 2020-06-12T23:06:55Z 2020-07-28T02:26:35Z 0 1 0 1219 CDBP01218 Collagen type IV alpha-3-binding protein Q9Y5P4 C43BP_HUMAN true false Enzyme Homo_sapiens COL4A3BP 624 70834.4 5.15 Involved in protein binding May mediate the intracellular trafficking of ceramide in a non-vesicular manner ["None"] ["None"] NM_005713.2 5031717 COL4A3BP Chromosome:5 5q13.3 COL4A3BP HGNC:2205 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1220 CDBP01219 Dual specificity protein kinase CLK2 P49760 CLK2_HUMAN true false Enzyme Homo_sapiens CLK2 499 60089.6 10.0 Involved in protein kinase activity Phosphorylates serine- and arginine-rich (SR) proteins of the spliceosomal complex may be a constituent of a network of regulatory mechanisms that enable SR proteins to control RNA splicing. Phosphorylates serines, threonines and tyrosines ["None"] ["None"] AF023268 2564911 CLK2 Chromosome:1 1q21 CLK2 HGNC:2069 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1221 CDBP01220 Serine/threonine-protein kinase Nek9 Q8TD19 NEK9_HUMAN true false Enzyme Homo_sapiens NEK9 979 107167.7 5.5 Involved in protein kinase activity Pleiotropic regulator of mitotic progression, participating in the control of spindle dynamics and chromosome separation. Phosphorylates different histones, myelin basic protein, beta-casein, and BICD2. Phosphorylates histone H3 on serine and threonine residues and beta-casein on serine residues. Important for G1/S transition and S phase progression ["None"] ["None"] NM_033116.4 222136641 NEK9 Chromosome:1 14q24.3 NEK9 HGNC:18591 true 2020-06-12T23:06:55Z 2020-07-28T02:26:36Z 0 0 0 1222 CDBP01221 Potassium-transporting ATPase alpha chain 2 P54707 AT12A_HUMAN true true Enzyme Homo_sapiens ATP12A 1039 116052.03 6.551 Involved in ATP binding Catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. Responsible for potassium absorption in various tissues. U02076 ATP12A 13 13q12.1-q12.3 ATP12A HGNC:13816 true hsa:479 NP_001172014.1:NM_001185085.1;NP_001667.4:NM_001676.5 Found in skin and kidney. Detected in prostate basal cells (at protein level). Expression is increased in benign prostate hyperplasia and tumor tissues (at protein level). Composed of two subunits: alpha (catalytic) and beta 2020-06-12T23:06:55Z 2020-07-28T02:26:36Z 0 1 0 1223 CDBP01222 Inhibitor of nuclear factor kappa-B kinase subunit beta O14920 IKKB_HUMAN true false Enzyme Homo_sapiens IKBKB 756 86563.2 5.53 Involved in protein kinase activity Acts as part of the IKK complex in the conventional pathway of NF-kappa-B activation and phosphorylates inhibitors of NF-kappa-B thus leading to the dissociation of the inhibitor/NF- kappa-B complex and ultimately the degradation of the inhibitor. Also phosphorylates NCOA3 ["None"] ["None"] AF029684 IKBKB Chromosome:8 8p11.2 IKBKB HGNC:5960 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1224 CDBP01223 Mitogen-activated protein kinase 9 P45984 MK09_HUMAN true false Enzyme Homo_sapiens MAPK9 424 48138.7 5.34 Involved in MAP kinase activity JNK2 isoforms display different binding patterns:alpha- 1 and alpha-2 preferentially bind to c-Jun, whereas beta-1 and beta-2 bind to ATF2. However, there is no correlation between binding and phosphorylation, which is achieved at about the same efficiency by all isoforms. JUNB is not a substrate for JNK2 alpha-2, and JUND binds only weakly to it ["None"] ["None"] AB451302 197692305 MAPK9 Chromosome:5 5q35 MAPK9 HGNC:6886 true 2020-06-12T23:06:55Z 2020-07-28T02:26:36Z 1 0 0 1225 CDBP01224 Fibroblast growth factor receptor 2 P21802 FGFR2_HUMAN true false Enzyme Homo_sapiens FGFR2 821 92024.3 5.68 Involved in protein kinase activity Receptor for acidic and basic fibroblast growth factors ["1-21"] ["378-398"] 1GJO X52832 31374 FGFR2 Chromosome:1 10q26 FGFR2 HGNC:3689 true 2020-06-12T23:06:55Z 2020-07-28T02:26:36Z 1 0 0 1226 CDBP01225 V-type proton ATPase 116 kDa subunit a isoform 4 Q9HBG4 VPP4_HUMAN true true Enzyme Homo_sapiens ATP6V0A4 840 96385.0 6.01 Involved in hydrogen ion transmembrane transporter activity Part of the proton channel of the V-ATPase that is involved in normal vectorial acid transport into the urine by the kidney ["None"] ["403-423", "450-470", "546-566", "576-596", "603-623", "642-662", "744-764", "775-795"] NM_020632.2 85386053 ATP6V0A4 Chromosome:7 7q34 ATP6V0A4 HGNC:866 true 2020-06-12T23:06:55Z 2020-07-28T02:26:36Z 0 0 0 1227 CDBP01226 Serine/threonine-protein kinase ATR Q13535 ATR_HUMAN true false Enzyme Homo_sapiens ATR 2644 301363.7 7.44 Involved in binding Serine/threonine protein kinase which activates checkpoint signaling upon genotoxic stresses such as ionizing radiation (IR), ultraviolet light (UV), or DNA replication stalling, thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates BRCA1, CHEK1, MCM2, RAD17, RPA2, SMC1 and TP53/p53, which collectively inhibit DNA replication and mitosis and promote DNA repair, recombination and apoptosis. Phosphorylates 'Ser-139' of histone variant H2AX/H2AFX at sites of DNA damage, thereby regulating DNA damage response mechanism. Required for FANCD2 ubiquitination. Critical for maintenance of fragile site stability and efficient regulation of centrosome duplication ["None"] ["None"] NM_001184.3 157266317 ATR Chromosome:3 3q22-q24 ATR HGNC:882 true 2020-06-12T23:06:55Z 2020-07-28T02:26:36Z 0 0 0 1228 CDBP01227 Tyrosine-protein kinase JAK1 P23458 JAK1_HUMAN true false Enzyme Homo_sapiens JAK1 1154 133276.0 7.58 Involved in protein kinase activity Tyrosine kinase of the non-receptor type, involved in the IFN-alpha/beta/gamma signal pathway. Kinase partner for the interleukin (IL)-2 receptor ["None"] ["None"] AB209057 JAK1 Chromosome:1 1p32.3-p31.3 JAK1 HGNC:6190 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1229 CDBP01228 Protein ATP1B4 Q9UN42 AT1B4_HUMAN false true Transporter Homo_sapiens ATP1B4 357 41597.4 4.4 Involved in sodium:potassium-exchanging ATPase activity May act as a transcriptional coregulator during muscle development through its interaction with SNW1. Has lost its ancestral function as a Na,K-ATPase beta-subunit ["None"] ["111-131"] AF158383 5733590 ATP1B4 ATP1B4 HGNC:808 true 2020-06-12T23:06:55Z 2020-07-28T02:32:07Z 0 0 0 1230 CDBP01229 Macrophage colony-stimulating factor 1 receptor P07333 CSF1R_HUMAN true false Enzyme Homo_sapiens CSF1R 972 107983.0 6.33 Involved in protein kinase activity Protein tyrosine-kinase transmembrane receptor for CSF1 and IL34 ["1-19"] ["513-537"] X03663 29900 CSF1R Chromosome:5 5q32 CSF1R HGNC:2433 true 2020-06-12T23:06:55Z 2020-07-28T02:26:36Z 1 0 0 1231 CDBP01230 ATP synthase protein 8 P03928 ATP8_HUMAN true true Enzyme Homo_sapiens MT-ATP8 68 7991.6 10.56 Involved in hydrogen ion transmembrane transporter activity Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. Minor subunit located with subunit a in the membrane ["None"] ["8-24"] J01415 MT-ATP8 MT-ATP8 HGNC:7415 true 2020-06-12T23:06:55Z 2020-07-28T02:26:36Z 0 0 0 1232 CDBP01231 Calcium/calmodulin-dependent protein kinase kinase 1 Q8N5S9 KKCC1_HUMAN true false Enzyme Homo_sapiens CAMKK1 505 55735.0 5.55 Involved in protein kinase activity Calcium/calmodulin-dependent protein kinase that belongs to a proposed calcium-triggered signaling cascade involved in a number of cellular processes. Phosphorylates CAMK1, CAMK1D, CAMK1G and CAMK4. Involved in regulating cell apoptosis. Promotes cell survival by phosphorylating AKT1/PKB that inhibits pro-apoptotic BAD/Bcl2-antagonist of cell death ["None"] ["None"] AF425232 23499314 CAMKK1 Chromosome:1 17p13.2 CAMKK1 HGNC:1469 true 2020-06-12T23:06:55Z 2020-07-28T02:26:36Z 0 0 0 1233 CDBP01232 Serine/threonine-protein kinase 6 O14965 STK6_HUMAN true false Enzyme Homo_sapiens AURKA 403 45809.0 9.9 Involved in protein kinase activity Contributes to the regulation of cell cycle progression. Required for normal mitosis. Associates with the centrosome and the spindle microtubules during mitosis and functions in centrosome maturation, spindle assembly, maintenance of spindle bipolarity, centrosome separation and mitotic checkpoint control. Phosphorylates numerous target proteins, including ARHGEF2, BRCA1, KIF2A, NDEL1, PARD3, PLK1 and BORA. Regulates KIF2A tubulin depolymerase activity. Required for normal axon formation. Plays a role in microtubule remodeling during neurite extension. Important for microtubule formation and/or stabilization ["None"] ["None"] 2BMC AF008551 2979628 AURKA Chromosome:2 20q13 AURKA HGNC:11393 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1234 CDBP01233 Proto-oncogene serine/threonine-protein kinase mos P00540 MOS_HUMAN true false Enzyme Homo_sapiens MOS 346 37819.2 9.1 Involved in protein kinase activity ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] BC069569 47481123 MOS Chromosome:8 8q11 MOS HGNC:7199 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1235 CDBP01234 RAC-beta serine/threonine-protein kinase P31751 AKT2_HUMAN true false Enzyme Homo_sapiens AKT2 481 55768.3 6.31 Involved in protein serine/threonine kinase activity General protein kinase capable of phosphorylating several known proteins ["None"] ["None"] 1MRY AK314619 189054412 AKT2 Chromosome:1 19q13.1-q13.2 AKT2 HGNC:392 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1236 CDBP01235 Dual specificity tyrosine-phosphorylation-regulated kinase 2 Q92630 DYRK2_HUMAN true false Enzyme Homo_sapiens DYRK2 601 66651.2 10.2 Involved in protein kinase activity Role in the regulation of cellular growth and/or development. Regulates TP53 by phosphorylation on Ser-46 to induce apoptosis in response to DNA damage, functioning downstream of ATM. Inactivates GYS1 by phosphorylation at Ser-641, and potentially also a second phosphorylation site, thus regulating glycogen synthesis. Phosphorylates EIF2B5 at Ser-544, enabling its subsequent phosphorylation and inhibition by GSK3, and may play a more general role in the priming of GSK3 substrates ["None"] ["None"] AK313937 189054136 DYRK2 Chromosome:1 12q15 DYRK2 HGNC:3093 true 2020-06-12T23:06:55Z 2020-07-28T02:26:37Z 0 0 0 1237 CDBP01236 Calcium/calmodulin-dependent protein kinase type 1 Q14012 KCC1A_HUMAN true false Enzyme Homo_sapiens CAMK1 370 41336.7 4.92 Involved in protein kinase activity Calcium/calmodulin-dependent protein kinase belonging to a proposed calcium-triggered signaling cascade involved in a number of cellular processes like transcriptional regulation, hormone production, translational regulation, regulation of actin filament organization and neurite outgrowth. Involved in calcium- dependent activation of the ERK pathway. Recognizes the substrate consensus sequence [MVLIF]-x-R-x(2)-[ST]- x(3)-[MVLIF]. Phosphorylates EIF4G3/eIF4GII. In vitro phosphorylates CREB1, ATF1, CTFR, MYL9, SYN1/synapsin I and SYNII/synapsin II ["None"] ["None"] 1A06 BC106754 76827734 CAMK1 Chromosome:3 3p25.3 CAMK1 HGNC:1459 true 2020-06-12T23:06:55Z 2020-07-28T02:26:37Z 0 0 0 1238 CDBP01237 Tyrosine-protein kinase Fyn P06241 FYN_HUMAN true false Enzyme Homo_sapiens FYN 537 60761.5 6.65 Involved in protein kinase activity Implicated in the control of cell growth. Plays a role in the regulation of intracellular calcium levels, with isoform 2 showing the greater ability to mobilize cytoplasmic calcium in comparison to isoform 1. Required in brain development and mature brain function with important roles in the regulation of axon growth, axon guidance, and neurite extension. Blocks axon outgrowth and attraction induced by NTN1 by phosphorylating its receptor DDC ["None"] ["None"] AB451293 197692287 FYN Chromosome:6 6q21 FYN HGNC:4037 true 2020-06-12T23:06:55Z 2020-07-28T02:26:37Z 0 0 0 1239 CDBP01238 Serine/threonine-protein kinase VRK2 Q86Y07 VRK2_HUMAN true false Enzyme Homo_sapiens VRK2 508 58140.1 9.16 Involved in protein kinase activity Probable serine/threonine kinase ["None"] ["487-507"] AB000450 1827452 VRK2 Chromosome:2 2p16.1 VRK2 HGNC:12719 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1240 CDBP01239 DNA-dependent protein kinase catalytic subunit P78527 PRKDC_HUMAN true false Enzyme Homo_sapiens PRKDC 4128 469084.2 7.12 Involved in binding Serine/threonine-protein kinase that acts as a molecular sensor for DNA damage. Involved in DNA nonhomologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination. Must be bound to DNA to express its catalytic properties. Promotes processing of hairpin DNA structures in V(D)J recombination by activation of the hairpin endonuclease artemis (DCLRE1C). The assembly of the DNA-PK complex at DNA ends is also required for the NHEJ ligation step. Required to protect and align broken ends of DNA. May also act as a scaffold protein to aid the localization of DNA repair proteins to the site of damage. Found at the ends of chromosomes, suggesting a further role in the maintenance of telomeric stability and the prevention of chromosomal end fusion. Also involved in modulation of transcription. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates 'Ser-139' of histone variant H2AX/H2AFX, thereby regulating DNA damage response mechanism. Phosphorylates DCLRE1C, c-Abl/ABL1, histone H1, HSPCA, c-jun/JUN, p53/TP53, PARP1, POU2F1, DHX9, SRF, XRCC1, XRCC1, XRCC4, XRCC5, XRCC6, WRN, MYC and RFA2. Can phosphorylate C1D not only in the presence of linear DNA but also in the presence of supercoiled DNA. Ability to phosphorylate TP53/p53 in the presence of supercoiled DNA is dependent on C1D ["None"] ["None"] U47077 PRKDC Chromosome:8 8q11 PRKDC HGNC:9413 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1241 CDBP01240 Serine/threonine-protein kinase WNK4 Q96J92 WNK4_HUMAN true false Enzyme Homo_sapiens WNK4 1243 134737.7 5.15 Involved in protein kinase activity Regulates the activity of the thiazide-sensitive Na-Cl cotransporter, SLC12A3, by phosphorylation which appears to prevent membrane trafficking of SLC12A3. Also inhibits the renal K(+) channel, KCNJ1, via a kinase-independent mechanism by which it induces clearance of the protein from the cell surface by clathrin-dependent endocytosis. WNK4 appears to act as a molecular switch that can vary the balance between NaCl reabsorption and K(+) secretion to maintain integrated homeostasis ["None"] ["None"] AF390018 15212448 WNK4 Chromosome:1 17q21-q22 WNK4 HGNC:14544 true 2020-06-12T23:06:55Z 2020-07-28T02:26:37Z 0 0 0 1242 CDBP01241 Ephrin type-A receptor 7 Q15375 EPHA7_HUMAN true false Enzyme Homo_sapiens EPHA7 998 112095.8 5.55 Involved in ephrin receptor activity Receptor for members of the ephrin-A family. Binds to ephrin-A1, -A2, -A3, -A4 and -A5 ["1-24"] ["557-577"] L36642 EPHA7 Chromosome:6 6q16.1 EPHA7 HGNC:3390 true 2020-06-12T23:06:55Z 2020-07-28T02:26:37Z 1 0 0 1243 CDBP01242 Mitogen-activated protein kinase 13 O15264 MK13_HUMAN true false Enzyme Homo_sapiens MAPK13 365 42089.3 8.66 Involved in MAP kinase activity Responds to activation by environmental stress and pro- inflammatory cytokines by phosphorylating downstream targets. Plays a role in the regulation of protein translation by phosphorylating and inactivating EEF2K ["None"] ["None"] Y10488 2266640 MAPK13 Chromosome:6 6p21.31 MAPK13 HGNC:6875 true 2020-06-12T23:06:55Z 2020-07-28T02:26:37Z 1 0 0 1244 CDBP01243 Tyrosine-protein kinase ABL2 P42684 ABL2_HUMAN true false Enzyme Homo_sapiens ABL2 1182 128341.9 8.17 Involved in non-membrane spanning protein tyrosine kinase activity Regulates cytoskeleton remodeling during cell differentiation, cell division and cell adhesion. Localizes to dynamic actin structures, and phosphorylates CRK and CRKL, DOK1, and other proteins controlling cytoskeleton dynamics. Phosphorylates PSMA7 that leads to an inhibition of proteasomal activity and cell cycle transition blocks ["None"] ["None"] M35296 ABL2 Chromosome:1 1q25.2 ABL2 HGNC:77 true 2020-06-12T23:06:55Z 2020-07-28T02:26:37Z 0 1 0 1245 CDBP01244 Serine/threonine-protein kinase ULK1 O75385 ULK1_HUMAN true false Enzyme Homo_sapiens ULK1 1050 112600.1 8.99 Involved in protein kinase activity Involved in autophagy. Required for autophagosome formation. Target of the TOR kinase signaling pathway that regulates autophagy through the control of phosphorylation status of ATG13/KIAA0652 and ULK1, and the regulation of the ATG13-ULK1-RB1CC1 complex. Phosphorylates ATG13/KIAA0652. Involved in axon growth. Plays an essential role in neurite extension of cerebellar granule cells ["None"] ["None"] NM_003565.2 4507831 ULK1 Chromosome:1 12q24.3 ULK1 HGNC:12558 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1246 CDBP01245 Tyrosine-protein kinase Mer Q12866 MERTK_HUMAN true false Enzyme Homo_sapiens MERTK 999 110248.1 5.6 Involved in protein kinase activity In case of filovirus infection, seems to function as a cell entry factor ["1-20"] ["506-526"] NM_006343.2 66932918 MERTK Chromosome:2 2q14.1 MERTK HGNC:7027 true 2020-06-12T23:06:55Z 2020-07-28T02:26:37Z 1 0 0 1247 CDBP01246 Serine/threonine-protein kinase PLK3 Q9H4B4 PLK3_HUMAN true false Enzyme Homo_sapiens PLK3 646 71628.6 9.48 Involved in protein binding Serine/threonine protein kinase involved in regulating M phase functions during the cell cycle. May also be part of the signaling network controlling cellular adhesion. In vitro, is able to phosphorylate CDC25C and casein ["None"] ["None"] AJ293866 10636488 PLK3 Chromosome:1 1p34.1 PLK3 HGNC:2154 true 2020-06-12T23:06:55Z 2020-07-28T02:26:38Z 1 0 0 1248 CDBP01247 Mitogen-activated protein kinase kinase kinase 7 O43318 M3K7_HUMAN true false Enzyme Homo_sapiens MAP3K7 606 67195.5 7.12 Involved in magnesium ion binding Component of a protein kinase signal transduction cascade. Mediator of TRAF6 and TGF-beta signal transduction. Activates IKBKB and MAPK8 in response to TRAF6 signaling. Stimulates NF-kappa-B activation and the p38 MAPK pathway. In osmotic stress signaling, plays a major role in the activation of MAPK8/JNK, but not that of NF-kappa-B ["None"] ["None"] AB009357 MAP3K7 Chromosome:6 6q15 MAP3K7 HGNC:6859 true 2020-06-12T23:06:55Z 2020-07-28T02:26:38Z 1 1 0 1249 CDBP01248 Mitogen-activated protein kinase 11 Q15759 MK11_HUMAN true false Enzyme Homo_sapiens MAPK11 364 41356.9 5.64 Involved in MAP kinase activity Kinase involved in a signal transduction pathway that is activated by changes in the osmolarity of the extracellular environment, by cytokines, or by environmental stress. Phosphorylates preferentially transcription factor ATF2 ["None"] ["None"] AF001008 2072361 MAPK11 Chromosome:2 22q13.33 MAPK11 HGNC:6873 true 2020-06-12T23:06:55Z 2020-07-28T02:26:38Z 1 0 0 1250 CDBP01249 Citron Rho-interacting kinase O14578 CTRO_HUMAN true false Enzyme Homo_sapiens CIT 2027 231428.9 6.54 Involved in protein serine/threonine kinase activity Required for KIF14 localization to the central spindle and midbody. May play a role in cytokinesis. Putative RHO/RAC effector that binds to the GTP-bound forms of RHO and RAC1. It probably binds p21 with a tighter specificity in vivo. Dual specificity protein kinase activity catalyzing autophosphorylation and phosphorylation of exogenous substrates on both serine/threonine and tyrosine residues. Plays an important role in the regulation of cytokinesis and the development of the central nervous system ["None"] ["None"] NM_007174.1 32698688 CIT Chromosome:1 12q24 CIT HGNC:1985 true 2020-06-12T23:06:55Z 2020-07-28T02:26:38Z 0 0 0 1251 CDBP01250 ATP synthase subunit e, mitochondrial P56385 ATP5I_HUMAN true true Enzyme Homo_sapiens ATP5I 69 7933.1 9.82 Involved in hydrogen ion transmembrane transporter activity Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. Minor subunit located with subunit a in the membrane ["None"] ["None"] D50371 ATP5I Chromosome:4 4p16.3 ATP5I HGNC:846 true 2020-06-12T23:06:55Z 2020-07-28T02:26:38Z 0 0 0 1252 CDBP01251 Serine/threonine-protein kinase Sgk2 Q9HBY8 SGK2_HUMAN true false Enzyme Homo_sapiens SGK2 427 47603.9 7.5 Involved in protein serine/threonine kinase activity Involved in the activation of potassium channels ["None"] ["None"] NM_016276.3 20127541 SGK2 Chromosome:2 20q13.2 SGK2 HGNC:13900 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1253 CDBP01252 Serine/threonine-protein kinase Nek2 P51955 NEK2_HUMAN true false Enzyme Homo_sapiens NEK2 445 51762.9 9.25 Involved in protein kinase activity Protein kinase that is involved in mitotic regulation. Integral component of the mitotic spindle-assembly checkpoint which is necessary for proper chromosome segregation during metaphase-anaphase transition. Required for association of MAD2L1 to kinetochore. Phosphorylates SGOL1. May have a role at the G2-M transition. May also play a role in meiosis. Isoform 1 but not isoform 2 appears to play a role in centrosome splitting. Isoform 1 phosphorylates and activates NEK11 in G1/S-arrested cells. Isoform 2, which is not present in the nucleolus, does not ["None"] ["None"] Z29066 479171 NEK2 Chromosome:1 1q32.2-q41 NEK2 HGNC:7745 true 2020-06-12T23:06:55Z 2020-07-28T02:26:38Z 0 0 0 1254 CDBP01253 TP53-regulating kinase Q96S44 PRPK_HUMAN true false Enzyme Homo_sapiens TP53RK 253 28160.1 10.06 Involved in ATP binding Protein kinase that phosphorylates 'Ser-15' of p53/TP53 protein and may therefore participate in its activation ["None"] ["None"] AB017505 14715460 TP53RK Chromosome:2 20q13.2 TP53RK HGNC:16197 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1255 CDBP01254 V-type proton ATPase catalytic subunit A P38606 VATA_HUMAN true true Enzyme Homo_sapiens ATP6V1A 617 68303.5 5.509 Involved in ATP binding Catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. AF113129 6523821 ATP6V1A 3 3q13.31 ATP6V1A HGNC:851 true hsa:523 NP_001681.2:NM_001690.3 Present in all tissues analyzed. V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (main components: subunits A, B, C, D, E, and F) attached to an integral membrane V0 proton pore complex (main component: the proteolipid protein) 2020-06-12T23:06:55Z 2020-07-28T02:26:38Z 1 0 0 1256 CDBP01255 ATP synthase subunit gamma, mitochondrial P36542 ATPG_HUMAN true true Enzyme Homo_sapiens ATP5C1 298 32995.7 9.71 Involved in hydrogen ion transporting ATP synthase activity, rotational mechanism Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(1) domain and the central stalk which is part of the complex rotary element. The gamma subunit protrudes into the catalytic domain formed of alpha(3)beta(3). Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits ["None"] ["None"] 1W0K D16562 ATP5C1 Chromosome:1 10p15.1 ATP5C1 HGNC:833 true 2020-06-12T23:06:55Z 2020-07-28T02:26:38Z 0 0 0 1257 CDBP01256 Serine/threonine-protein kinase MAK P20794 MAK_HUMAN true false Enzyme Homo_sapiens MAK 623 70580.4 10.2 Involved in protein kinase activity Could play an important function in spermatogenesis ["None"] ["None"] AL024498 7019738 MAK Chromosome:6 6p24 MAK HGNC:6816 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1258 CDBP01257 Ephrin type-A receptor 1 P21709 EPHA1_HUMAN true false Enzyme Homo_sapiens EPHA1 976 108066.2 6.63 Involved in ephrin receptor activity Receptor for members of the ephrin-A family. Binds with a low affinity to ephrin-A1 ["1-23"] ["548-568"] BC130291 120660150 EPHA1 Chromosome:7 7q34 EPHA1 HGNC:3385 true 2020-06-12T23:06:55Z 2020-07-28T02:26:39Z 1 0 0 1259 CDBP01258 Calcium/calmodulin-dependent protein kinase kinase 2 Q96RR4 KKCC2_HUMAN true false Enzyme Homo_sapiens CAMKK2 588 64731.2 6.67 Involved in protein kinase activity Calcium/calmodulin-dependent protein kinase belonging to a proposed calcium-triggered signaling cascade involved in a number of cellular processes. Isoform 1, isoform 2 and isoform 3 phosphorylate CAMK1 and CAMK4. Isoform 3 phosphorylates CAMK1D. Isoform 4, isoform 5 and isoform 6 lacking part of the calmodulin- binding domain are inactive. Seems to be involved in hippocampal activation of CREB1 ["None"] ["None"] NM_006549.3 27437015 CAMKK2 Chromosome:1 12q24.2 CAMKK2 HGNC:1470 true 2020-06-12T23:06:55Z 2020-07-28T02:26:39Z 0 0 0 1260 CDBP01259 Plasma membrane calcium-transporting ATPase 4 P23634 AT2B4_HUMAN true true Enzyme Homo_sapiens ATP2B4 1241 129401.755 7.511 Involved in ATP binding This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell. 1CFF;2KNE AL513343 48255957 ATP2B4 1 1q32.1 ATP2B4 HGNC:817 true hsa:493 NP_001001396.1:NM_001001396.2;NP_001675.3:NM_001684.4 Isoform XB is the most abundant isoform and is expressed ubiquitously. Isoforms containing segment Z have only been detected in heart, while isoforms containing segment a have been found in heart, stomach and brain cortex. 2020-06-12T23:06:55Z 2020-07-28T02:26:39Z 0 1 0 1261 CDBP01260 V-type proton ATPase subunit d 1 P61421 VA0D1_HUMAN true true Enzyme Homo_sapiens ATP6V0D1 351 40328.7 4.63 Involved in hydrogen ion transmembrane transporter activity Subunit of the integral membrane V0 complex of vacuolar ATPase. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system. May play a role in coupling of proton transport and ATP hydrolysis ["None"] ["None"] BC008861 14250784 ATP6V0D1 Chromosome:1 16q22.1 ATP6V0D1 HGNC:13724 true 2020-06-12T23:06:55Z 2020-07-28T02:26:39Z 0 0 0 1262 CDBP01261 Activated CDC42 kinase 1 Q07912 ACK1_HUMAN true false Enzyme Homo_sapiens TNK2 1038 114567.6 7.26 Involved in protein kinase activity Downstream effector of CDC42 which mediates CDC42- dependent cell migration via phosphorylation of BCAR1. Binds to both poly- and mono-ubiquitin and regulates ligand-induced degradation of EGFR. Participates in clathrin-mediated endocytosis. May be involved both in adult synaptic function and plasticity and in brain development ["None"] ["None"] 1U54 NM_005781.4 56549666 TNK2 Chromosome:3 3q29 TNK2 HGNC:19297 true 2020-06-12T23:06:55Z 2020-07-28T02:26:39Z 0 1 0 1263 CDBP01262 cAMP-dependent protein kinase catalytic subunit alpha P17612 KAPCA_HUMAN true false Enzyme Homo_sapiens PRKACA 351 40589.4 9.22 Involved in protein serine/threonine kinase activity Phosphorylates a large number of substrates in the cytoplasm and the nucleus ["None"] ["None"] 1CTP X07767 35479 PRKACA Chromosome:1 19p13.1 PRKACA HGNC:9380 true 2020-06-12T23:06:55Z 2020-07-28T02:26:39Z 0 0 0 1264 CDBP01263 Testis-specific serine/threonine-protein kinase 4 Q6SA08 TSSK4_HUMAN true false Enzyme Homo_sapiens TSSK4 328 37454.1 8.76 Involved in protein kinase activity May be involved in a signaling pathway during male germ cell development or mature sperm function. Phosphorylates CREB1 on Ser-133 and stimulates downstream signaling ["None"] ["None"] NM_174944.3 42734401 TSSK4 Chromosome:1 14q12 TSSK4 HGNC:19825 true 2020-06-12T23:06:55Z 2020-07-28T02:26:39Z 0 1 0 1265 CDBP01264 Phosphatidylinositol-5-phosphate 4-kinase type-2 beta P78356 PI42B_HUMAN true false Enzyme Homo_sapiens PIP4K2B 416 47377.6 7.37 Involved in phosphatidylinositol phosphate kinase activity Participates in the biosynthesis of phosphatidylinositol-4,5-bisphosphate ["None"] ["None"] 1BO1 NM_003559.4 4505819 PIP4K2B Chromosome:1 17q12 PIP4K2B HGNC:8998 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1266 CDBP01265 Alpha-type platelet-derived growth factor receptor P16234 PGFRA_HUMAN true false Enzyme Homo_sapiens PDGFRA 1089 122668.5 4.81 Involved in protein kinase activity Receptor that binds both PDGFA and PDGFB and has a tyrosine-protein kinase activity ["1-23"] ["525-549"] M22734 PDGFRA Chromosome:4 4q12 PDGFRA HGNC:8803 true 2020-06-12T23:06:55Z 2020-07-28T02:26:39Z 1 0 0 1267 CDBP01266 Tyrosine-protein kinase Lck P06239 LCK_HUMAN true false Enzyme Homo_sapiens LCK 509 58000.1 5.03 Involved in protein kinase activity Tyrosine kinase that plays an essential role for the selection and maturation of developing T-cell in the thymus and in mature T-cell function. Is constitutively associated with the cytoplasmic portions of the CD4 and CD8 surface receptors and plays a key role in T-cell antigen receptor(TCR)-linked signal transduction pathways. Association of the TCR with a peptide antigen-bound MHC complex facilitates the interaction of CD4 and CD8 with MHC class II and class I molecules, respectively, and thereby recruits the associated LCK to the vicinity of the TCR/CD3 complex. LCK then phosphorylates tyrosines residues within the immunoreceptor tyrosines-based activation motifs (ITAMs) in the cytoplasmic tails of the TCRgamma chains and CD3 subunits, initiating the TCR/CD3 signaling pathway. In addition, contributes to signaling by other receptor molecules. Associates directly with the cytoplasmic tail of CD2, and upon engagement of the CD2 molecule, LCK undergoes hyperphosphorylation and activation. Also plays a role in the IL2 receptor-linked signaling pathway that controls T-cell proliferative response. Binding of IL2 to its receptor results in increased activity of LCK. Is expressed at all stages of thymocyte development and is required for the regulation of maturation events that are governed by both pre-TCR and mature alpha beta TCR ["None"] ["None"] X05027 36808 LCK Chromosome:1 1p34.3 LCK HGNC:6524 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1268 CDBP01267 Tyrosine-protein kinase JAK3 P52333 JAK3_HUMAN true false Enzyme Homo_sapiens JAK3 1124 125097.6 7.18 Involved in protein kinase activity Tyrosine kinase of the non-receptor type, involved in the interleukin-2 and interleukin-4 signaling pathway. Phosphorylates STAT6, IRS1, IRS2 and PI3K ["None"] ["None"] U09607 508731 JAK3 Chromosome:1 19p13.1 JAK3 HGNC:6193 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1269 CDBP01268 Probable phospholipid-transporting ATPase IA Q9Y2Q0 AT8A1_HUMAN true true Enzyme Homo_sapiens ATP8A1 1164 131368.2 6.83 Involved in ATP binding May play a role in the transport of aminophospholipids from the outer to the inner leaflet of various membranes and the maintenance of asymmetric distribution of phospholipids, mainly in secretory vesicles ["None"] ["66-86", "93-115", "298-319", "345-366", "858-878", "891-910", "941-962", "977-999", "1006-1026", "1045-1070"] AF067820 80478388 ATP8A1 Chromosome:4 4p13 ATP8A1 HGNC:13531 true 2020-06-12T23:06:55Z 2020-07-28T02:26:40Z 0 1 0 1270 CDBP01269 Cell division protein kinase 9 P50750 CDK9_HUMAN true false Enzyme Homo_sapiens CDK9 372 42777.2 9.07 Involved in protein kinase activity Member of the cyclin-dependent kinase pair (CDK9/cyclin- T) complex, also called positive transcription elongation factor b (P-TEFb), which facilitates the transition from abortive to production elongation by phosphorylating the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNAP II), SUPT5H and RDBP. The CDK9/cyclin-K complex has also a kinase activity toward CTD of RNAP II and can substitute for P-TEFb in vitro ["None"] ["None"] L25676 CDK9 Chromosome:9 9q34.1 CDK9 HGNC:1780 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1271 CDBP01270 Muscle, skeletal receptor tyrosine-protein kinase O15146 MUSK_HUMAN true false Enzyme Homo_sapiens MUSK 869 97055.3 7.24 Involved in protein kinase activity Receptor tyrosine kinase that is a key mediator of agrin's action and is involved in neuromuscular junction (NMJ) organization ["1-23"] ["496-516"] 1LUF AF006464 2253312 MUSK Chromosome:9 9q31.3-q32 MUSK HGNC:7525 true 2020-06-12T23:06:55Z 2020-07-28T02:26:40Z 1 0 0 1272 CDBP01271 Fibroblast growth factor receptor 3 P22607 FGFR3_HUMAN true false Enzyme Homo_sapiens FGFR3 806 87708.9 5.73 Involved in protein kinase activity Receptor for acidic and basic fibroblast growth factors. Preferentially binds FGF1 ["1-22"] ["376-396"] 1RY7 M58051 182569 FGFR3 Chromosome:4 4p16.3 FGFR3 HGNC:3690 true 2020-06-12T23:06:55Z 2020-07-28T02:26:40Z 1 0 0 1273 CDBP01272 RAC-gamma serine/threonine-protein kinase Q9Y243 AKT3_HUMAN true false Enzyme Homo_sapiens AKT3 479 55774.1 5.87 Involved in protein serine/threonine kinase activity IGF-1 leads to the activation of AKT3, which may play a role in regulating cell survival. Capable of phosphorylating several known proteins. Truncated isoform 2/PKB gamma 1 without the second serine phosphorylation site could still be stimulated but to a lesser extent ["None"] ["None"] AF085234 17529663 AKT3 Chromosome:1 1q44 AKT3 HGNC:393 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1274 CDBP01273 Cell division protein kinase 1 P06493 CDK1_HUMAN true false Enzyme Homo_sapiens CDK1 297 34081.1 8.75 Involved in protein kinase activity Plays a key role in the control of the eukaryotic cell cycle. It is required in higher cells for entry into S-phase and mitosis. p34 is a component of the kinase complex that phosphorylates the repetitive C-terminus of RNA polymerase II ["None"] ["None"] X05360 29839 CDK1 Chromosome:1 10q21.1 CDK1 HGNC:1722 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1275 CDBP01274 Dual specificity mitogen-activated protein kinase kinase 4 P45985 MP2K4_HUMAN true false Enzyme Homo_sapiens MAP2K4 399 44287.3 8.19 Involved in protein kinase activity Dual specificity kinase that activates the JUN kinases MAPK8 (JNK1) and MAPK9 (JNK2) as well as MAPK14 (p38) but not MAPK1 (ERK2) or MAPK3 (ERK1) ["None"] ["None"] L36870 MAP2K4 Chromosome:1 17p11.2 MAP2K4 HGNC:6844 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1276 CDBP01275 Ephrin type-A receptor 3 P29320 EPHA3_HUMAN true false Enzyme Homo_sapiens EPHA3 983 110129.7 6.73 Involved in ephrin receptor activity Receptor for members of the ephrin-A family. Binds to ephrin-A2, -A3, -A4 and -A5. Could play a role in lymphoid function ["1-20"] ["542-565"] AF213459 12003435 EPHA3 Chromosome:3 3p11.2 EPHA3 HGNC:3387 true 2020-06-12T23:06:55Z 2020-07-28T02:26:40Z 1 0 0 1277 CDBP01276 Serine/threonine-protein kinase DCLK1 O15075 DCLK1_HUMAN true false Enzyme Homo_sapiens DCLK1 740 82223.2 8.91 Involved in intracellular signaling pathway Probable kinase that may be involved in a calcium- signaling pathway controlling neuronal migration in the developing brain. May also participate in functions of the mature nervous system ["None"] ["None"] NM_004734 4758128 DCLK1 Chromosome:1 13q13 DCLK1 HGNC:2700 true 2020-06-12T23:06:55Z 2020-07-28T02:26:40Z 0 0 0 1278 CDBP01277 Tyrosine-protein kinase Tec P42680 TEC_HUMAN true false Enzyme Homo_sapiens TEC 631 73580.7 8.58 Involved in protein kinase activity ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate ["None"] ["None"] BC101711 75517224 TEC Chromosome:4 4p12 TEC HGNC:11719 true 2020-06-12T23:06:55Z 2020-07-28T02:26:40Z 0 0 0 1279 CDBP01278 Mitogen-activated protein kinase kinase kinase 10 Q02779 M3K10_HUMAN true false Enzyme Homo_sapiens MAP3K10 954 103693.4 7.0 Involved in protein kinase activity Activates the JUN N-terminal pathway ["None"] ["None"] X90846 971420 MAP3K10 Chromosome:1 19q13.2 MAP3K10 HGNC:6849 true 2020-06-12T23:06:55Z 2020-07-28T02:26:40Z 0 0 0 1280 CDBP01279 Protein kinase C beta type P05771 KPCB_HUMAN true false Enzyme Homo_sapiens PRKCB 671 76868.4 7.0 Involved in protein serine/threonine kinase activity Calcium-activated and phospholipid-dependent serine/threonine-protein kinase involved in various processes such as regulation of the B-cell receptor (BCR) signalosome, apoptosis and transcription regulation. Plays a key role in B-cell activation and function by regulating BCR-induced NF-kappa-B activation and B-cell suvival. Required for recruitment and activation of the IKK kinase to lipid rafts and mediates phosphorylation of CARD11/CARMA1 at 'Ser-559', 'Ser-644' and 'Ser- 652', leading to activate the NF-kappa-B signaling. Involved in apoptosis following oxidative damage:in case of oxidative conditions, specifically phosphorylates 'Ser-36' of isoform p66Shc of SHC1, leading to mitochondrial accumulation of p66Shc, where p66Shc acts as a reactive oxygen species producer. Acts as a coactivator of androgen receptor (ANDR)-dependent transcription, by being recruited to ANDR target genes and specifically mediating phosphorylation of 'Thr-6' of histone H3 (H3T6ph), a specific tag for epigenetic transcriptional activation that prevents demethylation of histone H3 'Lys-4' (H3K4me) by LSD1/KDM1A. Also involved in triglyceride homeostasis. Serves as the receptor for phorbol esters, a class of tumor promoters ["None"] ["None"] NM_212535.2 47157322 PRKCB Chromosome:1 16p11.2 PRKCB HGNC:9395 true 2020-06-12T23:06:55Z 2020-07-28T02:26:40Z 0 1 0 1281 CDBP01280 Serine/threonine-protein kinase 24 Q9Y6E0 STK24_HUMAN true false Enzyme Homo_sapiens STK24 443 49307.4 5.41 Involved in protein kinase activity Protein kinase that act on both serine and threonine residues ["None"] ["None"] NM_003576.3 20070158 STK24 Chromosome:1 13q31.2-q32.3 STK24 HGNC:11403 true 2020-06-12T23:06:55Z 2020-07-28T02:26:41Z 0 0 0 1282 CDBP01281 Protein kinase C zeta type Q05513 KPCZ_HUMAN true false Enzyme Homo_sapiens PRKCZ 592 67659.3 5.52 Involved in protein serine/threonine kinase activity PKC is activated by diacylglycerol which in turn phosphorylates a range of cellular proteins. PKC also serves as the receptor for phorbol esters, a class of tumor promoters. Subunit of a quaternary complex that plays a central role in epithelial cell polarization ["None"] ["None"] AK290995 158255426 PRKCZ Chromosome:1 1p36.33-p36.2 PRKCZ HGNC:9412 true 2020-06-12T23:06:55Z 2020-07-28T02:26:41Z 0 1 0 1283 CDBP01282 Non-receptor tyrosine-protein kinase TYK2 P29597 TYK2_HUMAN true false Enzyme Homo_sapiens TYK2 1187 133648.8 7.15 Involved in protein kinase activity Probably involved in intracellular signal transduction by being involved in the initiation of type I IFN signaling. Phosphorylates the interferon-alpha/beta receptor alpha chain ["None"] ["None"] X54637 37504 TYK2 Chromosome:1 19p13.2 TYK2 HGNC:12440 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1284 CDBP01283 Receptor tyrosine-protein kinase erbB-4 Q15303 ERBB4_HUMAN true false Enzyme Homo_sapiens ERBB4 1308 146806.9 6.35 Involved in transmembrane receptor protein tyrosine kinase activity Specifically binds and is activated by neuregulins, NRG- 2, NRG-3, heparin-binding EGF-like growth factor, betacellulin and NTAK. Interaction with these factors induces cell differentiation. Not activated by EGF, TGF-A, and amphiregulin. The C-terminal fragment (CTF) of isoform JMA-A CYT-2 (containing E4ICD2) can stimulate transcription in the presence of YAP1. ERBB4 intracellular domain is involved in the regulation of cell growth. Conflicting reports are likely due at least in part to the opposing effects of the isoform-specific and nuclear-translocated ERBB4 intracellular domains (E4ICD1 and E4ICD2). Overexpression studies in epithelium show growth inhibition using E4ICD1 and increased proliferation using E4ICD2. E4ICD2 has greater in vitro kinase activity than E4ICD1. The kinase activity is required for the nuclear translocation of E4ICD2 ["1-25"] ["652-675"] NM_005235.2 4885215 ERBB4 Chromosome:2 2q33.3-q34 ERBB4 HGNC:3432 true 2020-06-12T23:06:55Z 2020-07-28T02:26:41Z 1 0 0 1285 CDBP01284 Ribosomal protein S6 kinase alpha-6 Q9UK32 KS6A6_HUMAN true false Enzyme Homo_sapiens RPS6KA6 745 83871.4 6.3 Involved in protein serine/threonine kinase activity Serine/threonine kinase that may play a role in mediating the growth-factor and stress induced activation of the transcription factor CREB ["None"] ["None"] AF184965 6467562 RPS6KA6 RPS6KA6 HGNC:10435 true 2020-06-12T23:06:55Z 2020-07-28T02:26:41Z 0 1 0 1286 CDBP01285 Membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase Q99640 PMYT1_HUMAN true false Enzyme Homo_sapiens PKMYT1 499 54520.8 6.93 Involved in protein kinase activity Acts as a negative regulator of entry into mitosis (G2 to M transition) by phosphorylation of the CDK1 kinase specifically when CDK1 is complexed to cyclins. Mediates phosphorylation of CDK1 predominantly on 'Thr-14'. Also involved in Golgi fragmentation. May be involved in phosphorylation of CDK1 on 'Tyr-15' to a lesser degree, however tyrosine kinase activity is unclear and may be indirect. May be a downstream target of Notch signaling pathway during eye development ["None"] ["None"] AC004233 2914674 PKMYT1 Chromosome:1 16p13.3 PKMYT1 HGNC:29650 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1287 CDBP01286 Galactokinase P51570 GALK1_HUMAN true false Enzyme Homo_sapiens GALK1 392 42271.805 6.456 Involved in galactokinase activity Major enzyme for galactose metabolism. 1WUU;1YH7 U26401 GALK1 17 17q24 GALK1 HGNC:4118 true hsa:2584 NP_000145.1:NM_000154.1 Homodimer (Probable) 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1288 CDBP01287 Cell division protein kinase 15 Q96Q40 CDK15_HUMAN true false Enzyme Homo_sapiens CDK15 435 49022.6 7.15 Involved in protein kinase activity Serine/threonine-protein kinase involved in the control of the eukaryotic cell cycle, whose activity is controlled by an associated cyclin ["None"] ["None"] XM_002749645 296205280 CDK15 Chromosome:2 2q33.2 CDK15 HGNC:14434 true 2020-06-12T23:06:55Z 2020-07-28T02:26:41Z 0 0 0 1289 CDBP01288 Calcium/calmodulin-dependent protein kinase type IV Q16566 KCC4_HUMAN true false Enzyme Homo_sapiens CAMK4 473 51925.0 5.58 Involved in calmodulin-dependent protein kinase activity Calcium/calmodulin-dependent protein kinase belonging to a proposed calcium-triggered signaling cascade. May be involved in transcriptional regulation. May be involved in regulation of microtubule dynamics. In vitro, phosphorylates CREB1, CREBBP, PRM2, MEF2A, MEF2D and STMN1/OP18. May be involved in spermatogenesis. May play a role in the consolidation/retention of hippocampus-dependent long-term memory ["None"] ["None"] D30742 CAMK4 Chromosome:5 5q21.3 CAMK4 HGNC:1464 true 2020-06-12T23:06:55Z 2020-07-28T02:26:41Z 0 0 0 1290 CDBP01289 Sarcoplasmic/endoplasmic reticulum calcium ATPase 1 O14983 AT2A1_HUMAN true true Enzyme Homo_sapiens ATP2A1 1001 109282.355 5.175 Involved in ATP binding This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen. Contributes to calcium sequestration involved in muscular excitation/contraction. NM_173201.3 27886529 ATP2A1 16 16p12.1 ATP2A1 HGNC:811 true hsa:487 NP_004311.1:NM_004320.4;NP_775293.1:NM_173201.3 Skeletal muscle, fast twitch muscle (type II) fibers. Associated with sarcolipin (SLN) and phospholamban (PLN) 2020-06-12T23:06:55Z 2020-07-28T02:26:41Z 0 0 0 1291 CDBP01290 Cell division protein kinase 2 P24941 CDK2_HUMAN true false Enzyme Homo_sapiens CDK2 298 33929.2 8.99 Involved in protein kinase activity Involved in the control of the cell cycle. Interacts with cyclins A, B1, B3, D, or E. Activity of CDK2 is maximal during S phase and G2 ["None"] ["None"] 1V1K X61622 29849 CDK2 Chromosome:1 12q13 CDK2 HGNC:1771 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1292 CDBP01291 Glycogen synthase kinase-3 alpha P49840 GSK3A_HUMAN true false Enzyme Homo_sapiens GSK3A 483 50980.4 8.95 Involved in protein kinase activity Implicated in the hormonal control of several regulatory proteins including glycogen synthase, MYB and the transcription factor JUN ["None"] ["None"] AC006486 4210499 GSK3A Chromosome:1 19q13.2 GSK3A HGNC:4616 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1293 CDBP01292 RAC-alpha serine/threonine-protein kinase P31749 AKT1_HUMAN true false Enzyme Homo_sapiens AKT1 480 55686.0 5.96 Involved in protein serine/threonine kinase activity Plays a role as a key modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including correct neuron positioning, dendritic development and synapse formation. General protein kinase capable of phosphorylating several known proteins. Phosphorylates TBC1D4. Signals downstream of phosphatidylinositol 3-kinase (PI(3)K) to mediate the effects of various growth factors such as platelet-derived growth factor (PDGF), epidermal growth factor (EGF), insulin and insulin-like growth factor I (IGF-I). Plays a role in glucose transport by mediating insulin-induced translocation of the GLUT4 glucose transporter to the cell surface. Mediates the antiapoptotic effects of IGF-I. Mediates insulin-stimulated protein synthesis by phosphorylating TSC2 at 'Ser-939' and 'Thr-1462', thereby activating mTORC1 signaling and leading to both phosphorylation of 4E-BP1 and in activation of RPS6KB1. Promotes glycogen synthesis by mediating the insulin-induced activation of glycogen synthase ["None"] ["None"] AF283830 18027298 AKT1 Chromosome:1 14q32.32|14q32.32 AKT1 HGNC:391 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1294 CDBP01293 Mitogen-activated protein kinase kinase kinase 12 Q12852 M3K12_HUMAN true false Enzyme Homo_sapiens MAP3K12 859 93218.2 6.42 Involved in magnesium ion binding May be an activator of the JNK/SAPK pathway. Phosphorylates beta-casein, histone 1 and myelin basic protein in vitro ["None"] ["None"] AF283475 18265389 MAP3K12 Chromosome:1 12q13 MAP3K12 HGNC:6851 true 2020-06-12T23:06:55Z 2020-07-28T02:26:42Z 1 1 0 1295 CDBP01294 Sodium/potassium-transporting ATPase subunit alpha-1 P05023 AT1A1_HUMAN true true Enzyme Homo_sapiens ATP1A1 1023 112895.01 5.492 Involved in ATP binding This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients. D00099 ATP1A1 1 1p21 ATP1A1 HGNC:799 true hsa:476 NP_000692.2:NM_000701.7;NP_001153705.1:NM_001160233.1;NP_001153706.1:NM_001160234.1 Interacts with SIK1 . Composed of three subunits: alpha (catalytic), beta and gamma. Binds the HLA class II histocompatibility antigen, DR1 2020-06-12T23:06:55Z 2020-07-28T02:26:42Z 0 1 0 1296 CDBP01295 Cell division protein kinase 7 P50613 CDK7_HUMAN true false Enzyme Homo_sapiens CDK7 346 39038.0 8.68 Involved in protein kinase activity Cyclin-dependent kinases (CDKs) are activated by the binding to a cyclin and mediate the progression through the cell cycle. Each different complex controls a specific transition between two subsequent phases in the cell cycle. CDK7 is the catalytic subunit of the CDK-activating kinase (CAK) complex, a serine-threonine kinase. CAK activates the cyclin-associated kinases CDK1, CDK2, CDK4 and CDK6 by threonine phosphorylation. CAK complexed to the core-TFIIH basal transcription factor activates RNA polymerase II by serine phosphorylation of the repetitive C-terminus domain (CTD) of its large subunit (POLR2A), allowing its escape from the promoter and elongation of the transcripts. Involved in cell cycle control and in RNA transcription by RNA polymerase II. Its expression and activity are constant throughout the cell cycle ["None"] ["None"] 1UA2 X79193 485909 CDK7 Chromosome:5 5q12.1 CDK7 HGNC:1778 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1297 CDBP01296 Tyrosine-protein kinase Fgr P09769 FGR_HUMAN true false Enzyme Homo_sapiens FGR 529 59478.1 5.29 Involved in protein kinase activity ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate ["None"] ["None"] AL031729 6572192 FGR Chromosome:1 1p36.2-p36.1 FGR HGNC:3697 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1298 CDBP01297 Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma isoform P48736 PK3CG_HUMAN true false Enzyme Homo_sapiens PIK3CG 1102 126452.6 7.53 Involved in binding 3-phosphorylates the cellular phosphoinositide PtdIns- 4,5-biphosphate (PtdIns(4,5)P2) to produce PtdIns-3, 4,5- triiphosphate (PtdIns(3,4,5)P3). Links G-protein coupled receptor activation to the secondary messenger PtdIns(3,4,5)P3 production ["None"] ["None"] 1E8Z X83368 1507822 PIK3CG Chromosome:7 7q22.3 PIK3CG HGNC:8978 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1299 CDBP01298 Mitogen-activated protein kinase kinase kinase kinase 2 Q12851 M4K2_HUMAN true false Enzyme Homo_sapiens MAP4K2 820 91555.1 6.31 Involved in small GTPase regulator activity Enhances MAP3K1 oligomerization, which may relieve amino-terminal mediated MAP3K1 autoinhibition and lead to activation following autophosphorylation. May play a role in the regulation of vesicle targeting or fusion ["None"] ["None"] NM_004579.2 22035600 MAP4K2 Chromosome:1 11q13 MAP4K2 HGNC:6864 true 2020-06-12T23:06:55Z 2020-07-28T02:26:42Z 0 0 0 1300 CDBP01299 Calcium-transporting ATPase type 2C member 1 P98194 AT2C1_HUMAN true true Enzyme Homo_sapiens ATP2C1 919 96959.125 6.315 Involved in ATP binding This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium. AF181120 6715131 ATP2C1 3 3q22.1 ATP2C1 HGNC:13211 true hsa:27032 NP_001001485.1:NM_001001485.2;NP_001001486.1:NM_001001486.1;NP_001001487.1:NM_001001487.1;NP_001186108.1:NM_001199179.1;NP_001186109.1:NM_001199180.1;NP_001186110.1:NM_001199181.1;NP_001186111.1:NM_001199182.1;NP_001186112.1:NM_001199183.1;NP_001186113.1:NM_001199184.1;NP_001186114.1:NM_001199185.1;NP_055197.2:NM_014382.3 Found in most tissues except colon, thymus, spleen and leukocytes. Most abundant in keratinocytes and kidney. 2020-06-12T23:06:55Z 2020-07-28T02:26:42Z 0 1 0 1301 CDBP01300 Phosphorylase b kinase gamma catalytic chain, testis/liver isoform P15735 PHKG2_HUMAN true false Enzyme Homo_sapiens PHKG2 406 46441.8 6.35 Involved in phosphorylase kinase activity Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. This isozyme may regulate glycogeneolysis in the testis ["None"] ["None"] BC002541 12803435 PHKG2 Chromosome:1 16p11.2 PHKG2 HGNC:8931 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1302 CDBP01301 Cell division protein kinase 5 Q00535 CDK5_HUMAN true false Enzyme Homo_sapiens CDK5 292 33304.1 7.75 Involved in protein kinase activity Probably involved in the control of the cell cycle. Interacts with D1 and D3-type G1 cyclins. Can phosphorylate histone H1, tau, MAP2 and NF-H and NF-M. Also interacts with p35 which activates the kinase ["None"] ["None"] 1UNL X66364 36621 CDK5 Chromosome:7 7q36 CDK5 HGNC:1774 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1303 CDBP01302 Serine/threonine-protein kinase PRKY O43930 PRKY_HUMAN true false Enzyme Homo_sapiens PRKY 277 31708.2 6.96 Involved in protein kinase activity ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] Y15801 2696012 PRKY PRKY HGNC:9444 true 2020-06-12T23:06:55Z 2020-07-28T02:26:42Z 0 0 0 1304 CDBP01303 Serine/threonine-protein kinase PAK 3 O75914 PAK3_HUMAN true false Enzyme Homo_sapiens PAK3 559 62309.1 5.12 Involved in protein kinase activity Key regulator of synapse formation and plasticity in the hippocampus ["None"] ["None"] 1F3M NM_001128173.1 189491759 PAK3 PAK3 HGNC:8592 true 2020-06-12T23:06:55Z 2020-07-28T02:26:42Z 0 0 0 1305 CDBP01304 V-type proton ATPase subunit B, brain isoform P21281 VATB2_HUMAN true true Enzyme Homo_sapiens ATP6V1B2 511 56500.2 5.55 Involved in ATP binding Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells ["None"] ["None"] AK312372 189065451 ATP6V1B2 Chromosome:8 8p21.3 ATP6V1B2 HGNC:854 true 2020-06-12T23:06:55Z 2020-07-28T02:26:42Z 0 0 0 1306 CDBP01305 Tyrosine-protein kinase ABL1 P00519 ABL1_HUMAN true false Enzyme Homo_sapiens ABL1 1130 122871.4 8.94 Involved in non-membrane spanning protein tyrosine kinase activity Protein kinase that regulates key processes linked to cell growth and survival. Regulates cytoskeleton remodeling during cell differentiation, cell division and cell adhesion. Localizes to dynamic actin structures, and phosphorylates CRK and CRKL, DOK1, and other proteins controlling cytoskeleton dynamics. Regulates DNA repair potentially by activating the proapoptotic pathway when the DNA damage is too severe to be repaired. Phosphorylates PSMA7 that leads to an inhibition of proteasomal activity and cell cycle transition blocks ["None"] ["None"] 1OPL M14752 177943 ABL1 Chromosome:9 9q34.1 ABL1 HGNC:76 true 2020-06-12T23:06:55Z 2020-07-28T02:26:43Z 0 1 0 1307 CDBP01306 Cell division protein kinase 4 P11802 CDK4_HUMAN true false Enzyme Homo_sapiens CDK4 303 33729.6 7.01 Involved in protein kinase activity Probably involved in the control of the cell cycle ["None"] ["None"] M14505 CDK4 Chromosome:1 12q14 CDK4 HGNC:1773 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1308 CDBP01307 Homeodomain-interacting protein kinase 1 Q86Z02 HIPK1_HUMAN true false Enzyme Homo_sapiens HIPK1 1210 130841.6 8.31 Involved in protein kinase activity May play a role as a corepressor for homeodomain transcription factors. Phosphorylates DAXX in response to stress, and mediates its translocation from the nucleus to the cytoplasm. May be involved in malignant squamous cell tumor formation ["None"] ["None"] AB089957 28411264 HIPK1 Chromosome:1 1p13.2 HIPK1 HGNC:19006 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1309 CDBP01308 Ceramide kinase Q8TCT0 CERK1_HUMAN true false Enzyme Homo_sapiens CERK 537 59977.0 8.24 Involved in diacylglycerol kinase activity Catalyzes specifically the phosphorylation of ceramide to form ceramide 1-phosphate. Acts efficiently on natural and analog ceramides (C6, C8, C16 ceramides, and C8-dihydroceramide), to a lesser extent on C2-ceramide and C6-dihydroceramide, but not on other lipids, such as various sphingosines. Binds phosphoinositides ["None"] ["None"] AB079066 CERK Chromosome:2 22q13.31 CERK HGNC:19256 true 2020-06-12T23:06:55Z 2020-07-28T02:26:43Z 1 0 0 1310 CDBP01309 Serine/threonine-protein kinase LATS2 Q9NRM7 LATS2_HUMAN true false Enzyme Homo_sapiens LATS2 1088 120134.9 8.32 Involved in protein serine/threonine kinase activity Negative regulator of YAP1 in the Hippo signaling pathway that plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein MST1/MST2, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. Acts as a tumor suppressor which plays a critical role in centrosome duplication, maintenance of mitotic fidelity and genomic stability. Negatively regulates G1/S transition by down-regulating cyclin E/CDK2 kinase activity. Negative regulator of the androgen receptor ["None"] ["None"] NM_014572.2 126507091 LATS2 Chromosome:1 13q11-q12 LATS2 HGNC:6515 true 2020-06-12T23:06:55Z 2020-07-28T02:26:43Z 0 0 0 1311 CDBP01310 Activin receptor type-1B P36896 ACV1B_HUMAN false false Receptor Homo_sapiens ACVR1B 505 56806.0 7.04 Involved in transmembrane receptor protein serine/threonine kinase activity On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Phosphorylates TTRAP ["1-23"] ["127-149"] Z22536 402189 ACVR1B Chromosome:1 12q13 ACVR1B HGNC:172 true 2020-06-12T23:06:55Z 2020-07-28T02:26:43Z 1 0 0 1312 CDBP01311 5-formyltetrahydrofolate cyclo-ligase P49914 MTHFS_HUMAN true false Enzyme Homo_sapiens MTHFS 203 16813.995 4.993 Involved in ATP binding Contributes to tetrahydrofolate metabolism. Helps regulate carbon flow through the folate-dependent one-carbon metabolic network that supplies carbon for the biosynthesis of purines, thymidine and amino acids. 3HXT;3HY3;3HY4;3HY6 BC019921 18044285 MTHFS 15 15q25.1 MTHFS HGNC:7437 true hsa:10588 NP_001186687.1:NM_001199758.1;NP_006432.1:NM_006441.3 Magnesium Monomer 2020-06-12T23:06:55Z 2020-07-28T02:26:43Z 0 0 0 1313 CDBP01312 Phosphatidylinositol 4-kinase alpha P42356 PI4KA_HUMAN true false Enzyme Homo_sapiens PI4KA 2044 231316.9 6.86 Involved in binding Acts on phosphatidylinositol (PtdIns) in the first committed step in the production of the second messenger inositol- 1,4,5,-trisphosphate ["None"] ["None"] NM_058004.2 155030226 PI4KA Chromosome:2 22q11.21 PI4KA HGNC:8983 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1314 CDBP01313 Testis-specific serine/threonine-protein kinase 3 Q96PN8 TSSK3_HUMAN true false Enzyme Homo_sapiens TSSK3 268 30101.7 6.71 Involved in protein kinase activity May be involved in a signaling pathway during male germ cell development or mature sperm function ["None"] ["None"] AF296450 15419724 TSSK3 Chromosome:1 1p35-p34 TSSK3 HGNC:15473 true 2020-06-12T23:06:55Z 2020-07-28T02:26:43Z 0 1 0 1315 CDBP01314 Serine/threonine-protein kinase RIO1 Q9BRS2 RIOK1_HUMAN true false Enzyme Homo_sapiens RIOK1 568 65582.5 6.08 Involved in catalytic activity ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] NM_031480.2 23510356 RIOK1 Chromosome:6 6p24.3 RIOK1 HGNC:18656 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1316 CDBP01315 cAMP-dependent protein kinase catalytic subunit beta P22694 KAPCB_HUMAN true false Enzyme Homo_sapiens PRKACB 351 40622.4 9.19 Involved in protein serine/threonine kinase activity Mediates cAMP-dependent signaling triggered by receptor binding to GPCRs. PKA activation regulates diverse cellular processes such as cell proliferation, the cell cycle, differentiation and regulation of microtubule dynamics, chromatin condensation and decondensation, nuclear envelope disassembly and reassembly, as well as regulation of intracellular transport mechanisms and ion flux ["None"] ["None"] 1CTP M34181 189983 PRKACB Chromosome:1 1p36.1 PRKACB HGNC:9381 true 2020-06-12T23:06:55Z 2020-07-28T02:26:43Z 0 0 0 1317 CDBP01316 Sodium/potassium-transporting ATPase subunit alpha-3 P13637 AT1A3_HUMAN true true Enzyme Homo_sapiens ATP1A3 1013 113132.965 5.389 Involved in ATP binding This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients. BC009282 14424520 ATP1A3 19 19q13.31 ATP1A3 HGNC:801 true hsa:478 NP_001243142.1:NM_001256213.1;NP_001243143.1:NM_001256214.1;NP_689509.1:NM_152296.4 Composed of three subunits: alpha (catalytic), beta and gamma 2020-06-12T23:06:55Z 2020-07-28T02:26:43Z 1 1 0 1318 CDBP01317 Myosin light chain kinase, smooth muscle Q15746 MYLK_HUMAN true false Enzyme Homo_sapiens MYLK 1914 210713.5 6.03 Involved in protein kinase activity Calcium/calmodulin-dependent enzyme implicated in smooth muscle contraction via phosphorylation of myosin light chains (MLC). Also regulates actin-myosin interaction through a non- kinase activty. Implicated in the regulation of endothelial as well as vascular permeability. In the nervous system it has been shown to control the growth initiation of astrocytic processes in culture and to participate in transmitter release at synapses formed between cultured sympathetic ganglion cells. Critical participant in signaling sequences that result in fibroblast apoptosis ["None"] ["None"] NM_053025.3 116008192 MYLK Chromosome:3 3q21 MYLK HGNC:7590 true 2020-06-12T23:06:55Z 2020-07-28T02:26:43Z 0 0 0 1319 CDBP01318 Rhodopsin kinase Q15835 RK_HUMAN true false Enzyme Homo_sapiens GRK1 563 63525.3 5.62 Involved in protein serine/threonine kinase activity Phosphorylates rhodopsin thereby initiating its deactivation ["None"] ["None"] AK289912 158260847 GRK1 Chromosome:1 13q34 GRK1 HGNC:10013 true 2020-06-12T23:06:55Z 2020-07-28T02:26:43Z 1 0 0 1320 CDBP01319 ATP synthase subunit b, mitochondrial P24539 AT5F1_HUMAN true true Enzyme Homo_sapiens ATP5F1 256 28908.5 9.79 Involved in hydrogen ion transmembrane transporter activity Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain and the peripheric stalk, which acts as a stator to hold the catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 static relative to the rotary elements ["None"] ["None"] AL390195 13559061 ATP5F1 Chromosome:1 1p13.2 ATP5F1 HGNC:840 true 2020-06-12T23:06:55Z 2020-07-28T02:26:43Z 0 0 0 1321 CDBP01320 Tyrosine-protein kinase BTK Q06187 BTK_HUMAN true false Enzyme Homo_sapiens BTK 659 76280.7 7.86 Involved in protein kinase activity Plays a crucial role in B-cell ontogeny. Transiently phosphorylates GTF2I on tyrosine residues in response to B-cell receptor cross-linking. Required for the formation of functional ARID3A DNA-binding complexes ["None"] ["None"] 1K2P X58957 312467 BTK BTK HGNC:1133 true 2020-06-12T23:06:55Z 2020-07-28T02:26:44Z 0 1 0 1322 CDBP01321 Serine/threonine-protein kinase 12 Q96GD4 AURKB_HUMAN true false Enzyme Homo_sapiens AURKB 344 39280.1 9.7 Involved in protein kinase activity May be directly involved in regulating the cleavage of polar spindle microtubules and is a key regulator for the onset of cytokinesis during mitosis. Component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilization and spindle assembly. Phosphorylates 'Ser-10' and 'Ser-28' of histone H3 during mitosis. Required for kinetochore localization of BUB1 and SGOL1 ["None"] ["None"] AF008552 AURKB Chromosome:1 17p13.1 AURKB HGNC:11390 true 2020-06-12T23:06:55Z 2020-07-28T02:26:44Z 0 0 0 1323 CDBP01322 Serine/threonine-protein kinase 16 O75716 STK16_HUMAN true false Enzyme Homo_sapiens STK16 305 34655.6 6.91 Involved in protein kinase activity Protein kinase that act on both serine and threonine residues ["None"] ["None"] AB020739 10640971 STK16 Chromosome:2 2q35 STK16 HGNC:11394 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1324 CDBP01323 Vesicle-fusing ATPase P46459 NSF_HUMAN true false Enzyme Homo_sapiens NSF 744 82593.645 6.953 Involved in binding Required for vesicle-mediated transport. Catalyzes the fusion of transport vesicles within the Golgi cisternae. Is also required for transport from the endoplasmic reticulum to the Golgi stack. Seem to function as a fusion protein required for the delivery of cargo proteins to all compartments of the Golgi stack independent of vesicle origin. Interaction with AMPAR subunit GRIA2 leads to influence GRIA2 membrane cycling (By similarity). NM_006178.2 156564401 NSF 17 17q21 NSF HGNC:8016 true hsa:4905 NP_006169.2:NM_006178.3 magnesium ion Homohexamer. Interacts with GABARAP and GABARAPL2. Interacts with GRIA2. Interacts with PLK2, leading to disrupt the interaction with GRIA2. Interacts with MUSK; may regulate MUSK endocytosis and activity . Interacts with CDK16 (By similarity) 2020-06-12T23:06:55Z 2020-07-28T02:26:44Z 1 1 0 1325 CDBP01324 Protein-tyrosine kinase 2-beta Q14289 FAK2_HUMAN true false Enzyme Homo_sapiens PTK2B 1009 115873.6 6.16 Involved in binding Involved in calcium induced regulation of ion channel and activation of the map kinase signaling pathway. May represent an important signaling intermediate between neuropeptide activated receptors or neurotransmitters that increase calcium flux and the downstream signals that regulate neuronal activity. Interacts with the SH2 domain of Grb2. May phosphorylate the voltage-gated potassium channel protein Kv1.2. Its activation is highly correlated with the stimulation of c-Jun N-terminal kinase activity. Involved in osmotic stress-dependent SNCA 'Tyr-125' phosphorylation ["None"] ["None"] U33284 PTK2B Chromosome:8 8p21.1 PTK2B HGNC:9612 true 2020-06-12T23:06:55Z 2020-07-28T02:26:44Z 0 0 0 1326 CDBP01325 Ribosomal protein S6 kinase beta-1 P23443 KS6B1_HUMAN true false Enzyme Homo_sapiens RPS6KB1 525 59139.1 6.64 Involved in protein serine/threonine kinase activity Acts to integrate nutrient and growth factor signals in regulation of protein synthesis, cell proliferation, cell growth, cell cycle progression and cell survival. Downstream effector of the mTOR signaling pathway. Phosphorylates specifically ribosomal protein S6 in response to insulin or several classes of mitogens. During translation initiation, the inactive form associatess with the eIF-3 complex under conditions of nutrient depletion. Mitogenic stimulation leads to phosphorylation and dissociation from the eIF-3 complex and the free activated form can phosphorylate other translational targets including EIF4B. Promotes protein synthesis by phosphorylating PDCD4 at 'Ser-67' and targeting it for degradation. Phosphorylates RICTOR leading to regulation of mammalian target of rapamycin complex 2 (mTORC2) signaling; probably phosphorylates RICTOR at 'Thr-1135'. Phosphorylates IRS1 at multiple serine residues coupled with insulin resistance; probably phosphorylates IRS1 at 'Ser-270'. Required for TNF-alpha induced IRS-1 degradation. Phosphorylates EEF2K in response to IGF1 and inhibits EEF2K activity. Phosphorylates BAD at 'Ser-99' in response to IGF1 leading to BAD inactivation and inhibition of BAD-induced apoptosis. Phosphorylates mitochondrial RMP leading to dissociation of a RMP:PPP1CC complex; probably phosphorylates RMP at 'Ser-99'. The free mitochondrial PPP1CC can dephosphorylate RPS6KB1 at Thr-412 which is proposed to be a negative feed back mechanism for the RPS6KB1 antiapoptotic function. Phosphorylates GSK3B at 'Ser-9' under conditions leading to loss of the TSC1-TSC2 complex. Phosphorylates POLDIP3 ["None"] ["None"] M60724 RPS6KB1 Chromosome:1 17q23.1 RPS6KB1 HGNC:10436 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1327 CDBP01326 Mitogen-activated protein kinase kinase kinase kinase 5 Q9Y4K4 M4K5_HUMAN true false Enzyme Homo_sapiens MAP4K5 846 95039.0 7.68 Involved in small GTPase regulator activity May play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway ["None"] ["None"] BC036013 23273903 MAP4K5 Chromosome:1 14q11.2-q21 MAP4K5 HGNC:6867 true 2020-06-12T23:06:55Z 2020-07-28T02:26:44Z 0 0 0 1328 CDBP01327 Ephrin type-A receptor 4 P54764 EPHA4_HUMAN true false Enzyme Homo_sapiens EPHA4 986 109859.1 6.56 Involved in ephrin receptor activity Receptor for members of the ephrin-A family. Binds to ephrin-A1, -A4 and -A5. Binds more poorly to ephrin-A2 and -A3. May play a role in a signal transduction process involved in hindbrain pattern formation ["1-19"] ["548-569"] BC105000 85397101 EPHA4 Chromosome:2 2q36.1 EPHA4 HGNC:3388 true 2020-06-12T23:06:55Z 2020-07-28T02:26:44Z 1 0 0 1329 CDBP01328 3-phosphoinositide-dependent protein kinase 1 O15530 PDPK1_HUMAN true false Enzyme Homo_sapiens PDPK1 556 63151.3 7.38 Involved in protein kinase activity Phosphorylates and activates not only PKB/AKT, but also PKA, PKC-zeta, RPS6KA1 and RPS6KB1. May play a general role in signaling processes and in development. Isoform 3 is catalytically inactive ["None"] ["None"] 2BIY AF017995 PDPK1 Chromosome:1 16p13.3 PDPK1 HGNC:8816 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1330 CDBP01329 STE20/SPS1-related proline-alanine-rich protein kinase Q9UEW8 STK39_HUMAN true false Enzyme Homo_sapiens STK39 547 59641.6 6.21 Involved in protein kinase activity May act as a mediator of stress-activated signals ["None"] ["None"] AF030403 4103971 STK39 Chromosome:2 2q24.3 STK39 HGNC:17717 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1331 CDBP01330 Serine/threonine-protein kinase Nek7 Q8TDX7 NEK7_HUMAN true false Enzyme Homo_sapiens NEK7 302 34550.7 8.37 Involved in protein kinase activity ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] AB062450 19032281 NEK7 Chromosome:1 1q31.3 NEK7 HGNC:13386 true 2020-06-12T23:06:55Z 2020-07-28T02:26:44Z 0 0 0 1332 CDBP01331 Casein kinase II subunit alpha P68400 CSK21_HUMAN true false Enzyme Homo_sapiens CSNK2A1 391 45143.2 7.86 Involved in protein kinase activity Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. The alpha and alpha' chains contain the catalytic site. Participates in Wnt signaling. CK2 phosphorylates 'Ser-392' of p53/TP53 following UV irradiation ["None"] ["None"] 1JWH J02853 CSNK2A1 Chromosome:2 20p13 CSNK2A1 HGNC:2457 true 2020-06-12T23:06:55Z 2020-06-12T23:06:55Z 0 0 0 1333 CDBP01332 Serine/threonine-protein kinase PLK2 Q9NYY3 PLK2_HUMAN true false Enzyme Homo_sapiens PLK2 685 78235.9 8.32 Involved in protein binding May play a role in the division of at least some cell types, such as fibroblasts, and could function in embryogenesis, wound healing or neoplasia ["None"] ["None"] AF059617 3075509 PLK2 Chromosome:5 5q12.1-q13.2 PLK2 HGNC:19699 true 2020-06-12T23:06:55Z 2020-07-28T02:26:44Z 1 0 0 1334 CDBP01333 Beta-type platelet-derived growth factor receptor P09619 PGFRB_HUMAN true false Enzyme Homo_sapiens PDGFRB 1106 123966.9 4.62 Involved in protein kinase activity Receptor that binds specifically to PDGFB and PDGFD and has a tyrosine-protein kinase activity. Phosphorylates Tyr residues at the C-terminus of PTPN11 creating a binding site for the SH2 domain of GRB2 ["1-32"] ["532-556"] J03278 189732 PDGFRB Chromosome:5 5q31-q32 PDGFRB HGNC:8804 true 2020-06-12T23:06:55Z 2020-07-28T02:26:44Z 1 0 0 1335 CDBP01334 Protein kinase C iota type P41743 KPCI_HUMAN true false Enzyme Homo_sapiens PRKCI 596 68261.9 5.68 Involved in protein serine/threonine kinase activity Calcium-independent, phospholipid-dependent, serine- and threonine-specific kinase. May play a role in the secretory response to nutrients. Involved in cell polarization processes and the formation of epithelial tight junctions. Implicated in the activation of several signaling pathways including Ras, c-Src and NF-kappa-B pathways. Functions in both pro- and anti-apoptotic pathways. Functions in the RAC1/ERK signaling required for transformed growth. Plays a role in microtubule dynamics through interaction with RAB2A and GAPDH and recruitment to vesicular tubular clusters (VTCs) ["None"] ["None"] NM_002740.5 133908623 PRKCI Chromosome:3 3q26.3 PRKCI HGNC:9404 true 2020-06-12T23:06:55Z 2020-07-28T02:26:45Z 0 1 0 1336 CDBP01335 Serine/threonine-protein kinase 25 O00506 STK25_HUMAN true false Enzyme Homo_sapiens STK25 426 48111.3 6.73 Involved in protein kinase activity Oxidant stress-activated serine/threonine kinase that may play a role in the response to environmental stress. Targets to the Golgi apparatus where it appears to regulate protein transport events, cell adhesion, and polarity complexes important for cell migration ["None"] ["None"] AC110299 62822134 STK25 Chromosome:2 2q37.3 STK25 HGNC:11404 true 2020-06-12T23:06:56Z 2020-07-28T02:26:45Z 0 0 0 1337 CDBP01336 Tyrosine-protein kinase Blk P51451 BLK_HUMAN true false Enzyme Homo_sapiens BLK 505 57706.0 7.98 Involved in protein kinase activity May function in a signal transduction pathway that is restricted to B-lymphoid cells ["None"] ["None"] S76617 914204 BLK Chromosome:8 8p23-p22 BLK HGNC:1057 true 2020-06-12T23:06:56Z 2020-06-12T23:06:56Z 0 0 0 1338 CDBP01337 Serine/threonine-protein kinase tousled-like 2 Q86UE8 TLK2_HUMAN true false Enzyme Homo_sapiens TLK2 772 87660.3 8.58 Involved in protein kinase activity Rapidly and transiently inhibited by phosphorylation following the generation of DNA double-stranded breaks during S- phase. This is cell cycle checkpoint and ATM-pathway dependent and appears to regulate processes involved in chromatin assembly ["None"] ["None"] 45643117 TLK2 Chromosome:1 17q23 TLK2 HGNC:11842 true 2020-06-12T23:06:56Z 2020-07-28T02:26:45Z 0 0 0 1339 CDBP01338 Cyclin-dependent kinase-like 1 Q00532 CDKL1_HUMAN true false Enzyme Homo_sapiens CDKL1 357 41671.0 9.11 Involved in protein kinase activity ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] 37596297 CDKL1 Chromosome:1 14q21.3 CDKL1 HGNC:1781 true 2020-06-12T23:06:56Z 2020-06-12T23:06:56Z 0 0 0 1340 CDBP01339 Ribosomal protein S6 kinase alpha-3 P51812 KS6A3_HUMAN true false Enzyme Homo_sapiens RPS6KA3 740 83735.3 6.88 Involved in protein serine/threonine kinase activity Serine/threonine kinase that may play a role in mediating the growth-factor and stress induced activation of the transcription factor CREB ["None"] ["None"] NM_004586.2 4759050 RPS6KA3 RPS6KA3 HGNC:10432 true 2020-06-12T23:06:56Z 2020-07-28T02:26:45Z 0 1 0 1341 CDBP01340 Potassium-transporting ATPase subunit beta P51164 ATP4B_HUMAN true true Enzyme Homo_sapiens ATP4B 291 33367.0 7.37 Involved in sodium:potassium-exchanging ATPase activity ["None"] ["37-57"] NM_000705.3 4557339 ATP4B Chromosome:1 13q34 ATP4B HGNC:820 true 2020-06-12T23:06:56Z 2020-07-28T02:26:45Z 0 0 0 1342 CDBP01341 Mitogen-activated protein kinase kinase kinase 4 Q9Y6R4 M3K4_HUMAN true false Enzyme Homo_sapiens MAP3K4 1608 181683.0 6.26 Involved in protein serine/threonine kinase activity Component of a protein kinase signal transduction cascade. Activates the CSBP2, P38 and JNK MAPK pathways, but not the ERK pathway. Specifically phosphorylates and activates MAP2K4 and MAP2K6 ["None"] ["None"] NM_005922.2 55956904 MAP3K4 Chromosome:6 6q26 MAP3K4 HGNC:6856 true 2020-06-12T23:06:56Z 2020-07-28T02:26:45Z 0 0 0 1343 CDBP01342 Tyrosine-protein kinase receptor Tie-1 P35590 TIE1_HUMAN true false Enzyme Homo_sapiens TIE1 1138 125088.6 7.03 Involved in protein kinase activity Probable protein tyrosine-kinase transmembrane receptor ["1-21"] ["760-784"] BC038239 23398605 TIE1 Chromosome:1 1p34-p33 TIE1 HGNC:11809 true 2020-06-12T23:06:56Z 2020-07-28T02:26:45Z 1 0 0 1344 CDBP01343 ATP synthase subunit alpha, mitochondrial P25705 ATPA_HUMAN true true Enzyme Homo_sapiens ATP5A1 553 59750.1 9.56 Involved in ATP binding Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Subunits alpha and beta form the catalytic core in F(1). Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits. Subunit alpha does not bear the catalytic high-affinity ATP-binding sites ["None"] ["None"] 1W0K X59066 28938 ATP5A1 Chromosome:1 18q21 ATP5A1 HGNC:823 true 2020-06-12T23:06:56Z 2020-07-28T02:26:45Z 0 0 0 1345 CDBP01344 Microtubule-associated serine/threonine-protein kinase 2 Q6P0Q8 MAST2_HUMAN true false Enzyme Homo_sapiens MAST2 1798 196433.8 8.26 Involved in protein serine/threonine kinase activity Appears to link the dystrophin/utrophin network with microtubule filaments via the syntrophins. Phosphorylation of DMD or UTRN may modulate their affinities for associated proteins. Functions in a multi-protein complex in spermatid maturation. Regulates lipopolysaccharide-induced IL-12 synthesis in macrophages by forming a complex with TRAF6, resulting in the inhibition of TRAF6 NF-kappa-B activation ["None"] ["None"] NM_015112.2 112363080 MAST2 Chromosome:1 1p34.1 MAST2 HGNC:19035 true 2020-06-12T23:06:56Z 2020-07-28T02:26:45Z 0 1 0 1346 CDBP01345 Basic fibroblast growth factor receptor 1 P11362 FGFR1_HUMAN true false Enzyme Homo_sapiens FGFR1 822 91866.9 6.14 Involved in protein kinase activity Receptor for basic fibroblast growth factor. Receptor for FGF23 in the presence of KL. A shorter form of the receptor could be a receptor for FGF1 (aFGF) ["1-21"] ["377-397"] 2FGI NM_023110.2 105990522 FGFR1 Chromosome:8 8p12 FGFR1 HGNC:3688 true 2020-06-12T23:06:56Z 2020-07-28T02:26:45Z 1 0 0 1347 CDBP01346 Mitotic checkpoint serine/threonine-protein kinase BUB1 beta O60566 BUB1B_HUMAN true false Enzyme Homo_sapiens BUB1B 1050 119544.2 4.94 Involved in protein kinase activity Essential component of the mitotic checkpoint. Required for normal mitosis progression. The mitotic checkpoint delays anaphase until all chromosomes are properly attached to the mitotic spindle. One of its checkpoint functions is to inhibit the activity of the anaphase-promoting complex/cyclosome (APC/C) by blocking the binding of CDC20 to APC/C, independently of its kinase activity. The other is to monitor kinetochore activities that depend on the kinetochore motor CENPE. Required for kinetochore localization of CENPE. Negatively regulates PLK1 activity in interphase cells and suppresses centrosome amplification. Also implicated in triggering apoptosis in polyploid cells that exit aberrantly from mitotic arrest. May play a role for tumor suppression ["None"] ["None"] NM_001211.5 59814247 BUB1B Chromosome:1 15q15 BUB1B HGNC:1149 true 2020-06-12T23:06:56Z 2020-06-12T23:06:56Z 0 0 0 1348 CDBP01347 Probable phospholipid-transporting ATPase IIB O43861 ATP9B_HUMAN true true Enzyme Homo_sapiens ATP9B 1147 129302.4 7.64 Involved in ATP binding ATP + H(2)O + phospholipid(In) = ADP + phosphate + phospholipid(Out) ["None"] ["147-168", "174-196", "381-401", "410-431", "931-951", "964-982", "1013-1031", "1039-1061", "1068-1088", "1106-1130"] NM_198531.3 41327760 ATP9B Chromosome:1 18q23 ATP9B HGNC:13541 true 2020-06-12T23:06:56Z 2020-07-28T02:26:46Z 0 1 0 1349 CDBP01348 Tyrosine-protein kinase RYK P34925 RYK_HUMAN true false Enzyme Homo_sapiens RYK 604 67506.4 7.61 Involved in protein kinase activity Potential growth factor receptor protein tyrosine kinase ["1-25"] ["225-252"] 54607018 RYK Chromosome:3 3q22 RYK HGNC:10481 true 2020-06-12T23:06:56Z 2020-07-28T02:26:46Z 1 0 0 1350 CDBP01349 Serine/threonine-protein kinase 3 Q13188 STK3_HUMAN true false Enzyme Homo_sapiens STK3 491 56300.7 4.88 Involved in protein kinase activity Stress-activated, pro-apoptotic kinase which, following caspase-cleavage, enters the nucleus and induces chromatin condensation followed by internucleosomal DNA fragmentation. Key component of the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein MST1/MST2, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. MST1/MST2 are required to repress proliferation of mature hepatocytes, to prevent activation of facultative adult liver stem cells (oval cells), and to inhibit tumor formation. Phosphorylates NKX2-1 ["None"] ["None"] AK291837 158257106 STK3 Chromosome:8 8q22.2 STK3 HGNC:11406 true 2020-06-12T23:06:56Z 2020-07-28T02:26:46Z 0 0 0 1351 CDBP01350 Rho-associated protein kinase 1 Q13464 ROCK1_HUMAN true false Enzyme Homo_sapiens ROCK1 1354 158173.5 5.67 Involved in protein serine/threonine kinase activity Phosphorylates and activates DAPK3, which then regulates myosin light chain phosphatase through phosphorylation of MYPT1 thereby regulating the assembly of the actin cytoskeleton, cell migration, invasiveness of tumor cells, smooth muscle contraction and neurite outgrowth. Required for centromere positioning and centromere-dependent exit from mitosis. Necessary for apoptotic membrane blebbing ["None"] ["None"] U43195 ROCK1 Chromosome:1 18q11.1 ROCK1 HGNC:10251 true 2020-06-12T23:06:56Z 2020-07-28T02:26:46Z 0 0 0 1352 CDBP01351 Epidermal growth factor receptor P00533 EGFR_HUMAN true false Enzyme Homo_sapiens EGFR 1210 134276.2 6.67 Involved in transmembrane receptor protein tyrosine kinase activity Isoform 2 may act as an antagonist of EGF action ["1-24"] ["646-668"] 1IVO X00588 757924 EGFR Chromosome:7 7p12 EGFR HGNC:3236 true 2020-06-12T23:06:56Z 2020-07-28T02:26:46Z 1 0 0 1353 CDBP01352 Serine/threonine-protein kinase PAK 2 Q13177 PAK2_HUMAN true false Enzyme Homo_sapiens PAK2 524 58042.1 5.76 Involved in protein kinase activity The activated kinase acts on a variety of targets. Phosphorylates ribosomal protein S6, histone H4 and myelin basic protein. Full length PAK 2 stimulates cell survival and cell growth. The process is, at least in part, mediated by phosphorylation and inhibition of pro-apoptotic BAD. Caspase- activated PAK-2p34 is involved in cell death response, probably involving the JNK signaling pathway. Cleaved PAK-2p34 seems to have a higher activity than the CDC42-activated form ["None"] ["None"] 1F3M BC069613 47482156 PAK2 Chromosome:3 3q29 PAK2 HGNC:8591 true 2020-06-12T23:06:56Z 2020-07-28T02:26:46Z 0 0 0 1354 CDBP01353 Tyrosine-protein kinase SYK P43405 KSYK_HUMAN true false Enzyme Homo_sapiens SYK 635 72065.8 8.4 Involved in protein kinase activity Positive effector of BCR-stimulated responses. Couples the B-cell antigen receptor (BCR) to the mobilization of calcium ion either through a phosphoinositide 3-kinase-dependent pathway, when not phosphorylated on tyrosines of the linker region, or through a phospholipase C-gamma-dependent pathway, when phosphorylated on Tyr-348 and Tyr-352. Thus the differential phosphorylation of Syk can determine the pathway by which BCR is coupled to the regulation of intracellular calcium ion. Phosphorylates USP25 and regulates its intracellular levels ["None"] ["None"] 1XBC BC001645 12804475 SYK Chromosome:9 9q22 SYK HGNC:11491 true 2020-06-12T23:06:56Z 2020-07-28T02:26:46Z 0 0 0 1355 CDBP01354 Potassium-transporting ATPase alpha chain 1 P20648 ATP4A_HUMAN true true Enzyme Homo_sapiens ATP4A 1035 114117.74 5.81 Involved in ATP binding Catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. Responsible for acid production in the stomach. J05451 ATP4A 19 19q13.1 ATP4A HGNC:819 true hsa:495 HS02790-MONOMER NP_000695.2:NM_000704.2 Found in gastric mucosa. Composed of two subunits: alpha (catalytic) and beta 2020-06-12T23:06:56Z 2020-07-28T02:26:46Z 0 1 0 1356 CDBP01355 Integrin-linked protein kinase Q13418 ILK_HUMAN true false Enzyme Homo_sapiens ILK 452 51418.8 8.18 Involved in ATP binding Receptor-proximal protein kinase regulating integrin- mediated signal transduction. May act as a mediator of inside-out integrin signaling. Focal adhesion protein part of the complex ILK-PINCH. This complex is considered to be one of the convergence points of integrin- and growth factor-signaling pathway. Could be implicated in mediating cell architecture, adhesion to integrin substrates and anchorage-dependent growth in epithelial cells. Phosphorylates beta-1 and beta-3 integrin subunit on serine and threonine residues, but also AKT1 and GSK3B ["None"] ["None"] AF244139 8308038 ILK Chromosome:1 11p15.4 true 2020-06-12T23:06:56Z 2020-06-12T23:06:56Z 0 0 0 1357 CDBP01356 Bone morphogenetic protein receptor type-2 Q13873 BMPR2_HUMAN false false Receptor Homo_sapiens BMPR2 1038 115200.5 6.14 Involved in transmembrane receptor protein serine/threonine kinase activity On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Binds to BMP-7, BMP-2 and, less efficiently, BMP-4. Binding is weak but enhanced by the presence of type I receptors for BMPs ["1-26"] ["151-171"] NM_001204.6 15451916 BMPR2 Chromosome:2 2q33-q34 BMPR2 HGNC:1078 true 2020-06-12T23:06:56Z 2020-07-28T02:26:46Z 1 0 0 1358 CDBP01357 Vascular endothelial growth factor receptor 1 P17948 VGFR1_HUMAN true false Enzyme Homo_sapiens FLT1 1338 150767.2 8.48 Involved in protein kinase activity Receptor for VEGF, VEGFB and PGF. Has a tyrosine-protein kinase activity. The VEGF-kinase ligand/receptor signaling system plays a key role in vascular development and regulation of vascular permeability. Isoform SFlt1 may have an inhibitory role in angiogenesis ["1-26"] ["759-780"] X51602 31432 FLT1 Chromosome:1 13q12 FLT1 HGNC:3763 true 2020-06-12T23:06:56Z 2020-07-28T02:26:46Z 1 0 0 1359 CDBP01358 Probable phospholipid-transporting ATPase IM Q8TF62 AT8B4_HUMAN true true Enzyme Homo_sapiens ATP8B4 1192 135867.0 6.99 Involved in ATP binding ATP + H(2)O + phospholipid(In) = ADP + phosphate + phospholipid(Out) ["None"] ["45-66", "73-92", "277-298", "328-349", "872-892", "905-924", "955-976", "991-1013", "1020-1040", "1061-1085"] NM_024837.2 50083277 ATP8B4 Chromosome:1 15q21.2 ATP8B4 HGNC:13536 true 2020-06-12T23:06:56Z 2020-07-28T02:26:47Z 0 1 0 1360 CDBP01359 Ectonucleoside triphosphate diphosphohydrolase 2 Q9Y5L3 ENTP2_HUMAN true false Enzyme Homo_sapiens ENTPD2 495 Involved in ATP binding In the nervous system, could hydrolyze ATP and other nucleotides to regulate purinergic neurotransmission. Hydrolyzes ADP only to a marginal extent. The order of activity with different substrates is ATP > GTP > CTP = ITP > UTP >> ADP = UDP. AF144748 5114239 ENTPD2 ENTPD2 HGNC:3364 true hsa:954 NP_001237.1:NM_001246.3;NP_982293.1:NM_203468.2 Brain, placenta, skeletal muscle, kidney, pancreas, heart, ovary, testis, colon, small intestine, prostate and pancreas. No expression in adult thymus, spleen, lung, liver and peripheral blood leukocytes. Calcium;Magnesium 2020-06-12T23:06:56Z 2020-07-28T02:26:47Z 1 0 0 1361 CDBP01360 ATP synthase subunit beta, mitochondrial P06576 ATPB_HUMAN true true Enzyme Homo_sapiens ATP5B 529 56559.42 5.406 Involved in ATP binding Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Subunits alpha and beta form the catalytic core in F(1). Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits. AK291085 158255606 ATP5B 12 12q13.13 ATP5B HGNC:830 true hsa:506 NP_001677.2:NM_001686.3 F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(1) has five subunits: alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) has three main subunits: a, b and c. Component of an ATP synthase complex composed of ATP5F1, ATP5G1, ATP5E, ATP5H, ATP5I, ATP5J, ATP5J2, MT-ATP6, MT-ATP8, ATP5A1, ATP5B, ATP5D, ATP5C1, ATP5O, ATP5L, USMG5 and MP68. Interacts with PPIF 2020-06-12T23:06:56Z 2020-07-28T02:26:47Z 1 0 0 1362 CDBP01361 Interleukin-1 receptor-associated kinase 4 Q9NWZ3 IRAK4_HUMAN false false Receptor Homo_sapiens IRAK4 460 51529.3 5.06 Involved in protein binding Required for the efficient recruitment of IRAK1 to the IL-1 receptor complex following IL-1 engagement, triggering intracellular signaling cascades leading to transcriptional up- regulation and mRNA stabilization. Phosphorylates IRAK1 ["None"] ["None"] AF445802 20219010 IRAK4 Chromosome:1 12q12 IRAK4 HGNC:17967 true 2020-06-12T23:06:56Z 2020-07-28T02:26:47Z 1 1 0 1363 CDBP01362 Serine/threonine-protein kinase 19 P49842 STK19_HUMAN true false Enzyme Homo_sapiens STK19 368 40915.6 10.25 Involved in ATP binding Seems to be a protein kinase. In vitro it can phosphorylate casein-alpha on serine and threonine residues and histones on serine residues ["None"] ["None"] NM_032454.1 14602431 STK19 Chromosome:6 6p21.3 STK19 HGNC:11398 true 2020-06-12T23:06:56Z 2020-07-28T02:26:47Z 0 0 0 1364 CDBP01363 Serine/threonine-protein kinase tousled-like 1 Q9UKI8 TLK1_HUMAN true false Enzyme Homo_sapiens TLK1 766 86698.9 9.01 Involved in protein kinase activity Rapidly and transiently inhibited by phosphorylation following the generation of DNA double-stranded breaks during S- phase. This is cell cycle checkpoint and ATM-pathway dependent and appears to regulate processes involved in chromatin assembly. Isoform 3 phosphorylates and enhances the stability of the t-SNARE SNAP23, augmenting its assembly with syntaxin. Isoform 3 protects the cells from the ionizing radiation by faciliting the repair of DSBs. In vitro, phosphorylates histone H3 at 'Ser-10' ["None"] ["None"] NM_012290.4 33636698 TLK1 Chromosome:2 2q31.1 TLK1 HGNC:11841 true 2020-06-12T23:06:56Z 2020-07-28T02:26:47Z 0 0 0 1365 CDBP01364 Calcium/calmodulin-dependent protein kinase type II subunit delta Q13557 KCC2D_HUMAN true false Enzyme Homo_sapiens CAMK2D 499 56368.9 7.26 Involved in calmodulin-dependent protein kinase activity CaM-kinase II (CAMK2) is a prominent kinase in the central nervous system that may function in long-term potentiation and neurotransmitter release ["None"] ["None"] NM_001221.3 26667180 CAMK2D Chromosome:4 4q26 CAMK2D HGNC:1462 true 2020-06-12T23:06:56Z 2020-06-12T23:06:56Z 0 0 0 1366 CDBP01365 Sarcoplasmic/endoplasmic reticulum calcium ATPase 2 P16615 AT2A2_HUMAN true true Enzyme Homo_sapiens ATP2A2 1042 109689.97 5.366 Involved in ATP binding This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen. Isoform 2 is involved in the regulation of the contraction/relaxation cycle. M23114 ATP2A2 12 12q24.11 ATP2A2 HGNC:812 true hsa:488 NP_001672.1:NM_001681.3;NP_733765.1:NM_170665.3 Isoform 1 is widely expressed in smooth muscle and nonmuscle tissues such as in adult skin epidermis, with highest expression in liver, pancreas and lung, and intermediate expression in brain, kidney and placenta. Also expressed at lower levels in heart and skeletal muscle. Isoforms 2 and 3 are highly expressed in the heart and slow twitch skeletal muscle. Expression of isoform 3 is predominantly restricted to cardiomyocytes and in close proximity to the sarcolemma. Both isoforms are mildly expressed in lung, kidney, liver, pancreas and placenta. Expression of isoform 3 is amplified during monocytic differentiation and also observed in the fetal heart. Associated with phospholamban (PLN) . Isoform 1 interacts with TRAM2 (via C-terminus). Interacts with HAX1. Interacts with S100A8 and S100A9 (By similarity) 2020-06-12T23:06:56Z 2020-07-28T02:26:47Z 0 0 0 1367 CDBP01366 Serine/threonine-protein kinase D1 Q15139 KPCD1_HUMAN true false Enzyme Homo_sapiens PRKD1 912 101703.3 6.61 Involved in intracellular signaling pathway Converts transient diacylglycerol (DAG) signals into prolonged physiological effects, downstream of PKC. Involved in resistance to oxidative stress through activation of NF-kappa-B ["None"] ["None"] AK314170 189054333 PRKD1 Chromosome:1 14q11 PRKD1 HGNC:9407 true 2020-06-12T23:06:56Z 2020-07-28T02:26:47Z 0 0 0 1368 CDBP01367 Receptor tyrosine-protein kinase erbB-2 P04626 ERBB2_HUMAN true false Enzyme Homo_sapiens ERBB2 1255 137909.3 5.76 Involved in transmembrane receptor protein tyrosine kinase activity Essential component of a neuregulin-receptor complex, although neuregulins do not interact with it alone. GP30 is a potential ligand for this receptor. Binds to the 5'-TCAAATTC-3' sequence in the MT-CO2 promoter and activates its transcription ["1-22"] ["653-675"] 1S78 X03363 31198 ERBB2 Chromosome:1 17q11.2-q12|17q21.1 ERBB2 HGNC:3430 true 2020-06-12T23:06:56Z 2020-07-28T02:26:47Z 1 0 0 1369 CDBP01368 Serine/threonine-protein kinase Chk1 O14757 CHK1_HUMAN true false Enzyme Homo_sapiens CHEK1 476 54419.1 8.38 Involved in protein kinase activity Required for checkpoint mediated cell cycle arrest in response to DNA damage or the presence of unreplicated DNA. May also negatively regulate cell cycle progression during unperturbed cell cycles. Recognizes the substrate consensus sequence [R-X-X- S/T]. Binds to and phosphorylates CDC25A, CDC25B and CDC25C. Phosphorylation of CDC25A at 'Ser-178' and 'Thr-507' and phosphorylation of CDC25C at 'Ser-216' creates binding sites for 14-3-3 proteins which inhibit CDC25A and CDC25C. Phosphorylation of CDC25A at 'Ser-76', 'Ser-124', 'Ser-178', 'Ser-279' and 'Ser- 293' promotes proteolysis of CDC25A. Inhibition of CDC25 activity leads to increased inhibitory tyrosine phosphorylation of CDK- cyclin complexes and blocks cell cycle progression. Binds to and phosphorylates RAD51 at 'Thr-309', which may enhance the association of RAD51 with chromatin and promote DNA repair by homologous recombination. Binds to and phosphorylates TLK1 at 'Ser-743', which prevents the TLK1-dependent phosphorylation of the chromatin assembly factor ASF1A. This may affect chromatin assembly during S phase or DNA repair. May also phosphorylate multiple sites within the C-terminus of TP53, which promotes activation of TP53 by acetylation and enhances suppression of cellular proliferation ["None"] ["None"] 1NVS AF016582 CHEK1 Chromosome:1 11q24.2 CHEK1 HGNC:1925 true 2020-06-12T23:06:56Z 2020-06-12T23:06:56Z 0 0 0 1370 CDBP01369 Casein kinase II subunit alpha' P19784 CSK22_HUMAN true false Enzyme Homo_sapiens CSNK2A2 350 41212.9 8.82 Involved in protein kinase activity Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. The alpha and alpha' chains contain the catalytic site. Participates in Wnt signaling. CK2 phosphorylates 'Ser-392' of p53/TP53 following UV irradiation ["None"] ["None"] M55268 177838 CSNK2A2 Chromosome:1 16q21 CSNK2A2 HGNC:2459 true 2020-06-12T23:06:56Z 2020-06-12T23:06:56Z 0 0 0 1371 CDBP01370 BR serine/threonine-protein kinase 1 Q8TDC3 BRSK1_HUMAN true false Enzyme Homo_sapiens BRSK1 794 86752.7 9.31 Involved in protein kinase activity Required for the polarization of forebrain neurons which endows axons and dendrites with distinct properties, possibly by locally regulating phosphorylation of microtubule-associated proteins. May be involved in the regulation of G2/M arrest in response to UV- or methyl methane sulfonate (MMS)- induced, but not IR-induced, DNA damage. Phosphorylates WEE1 and CDC25B in vitro and CDC25C in vitro and in vivo ["None"] ["None"] AF479826 19401871 BRSK1 Chromosome:1 19q13.4 BRSK1 HGNC:18994 true 2020-06-12T23:06:56Z 2020-07-28T02:26:48Z 0 0 0 1372 CDBP01371 Tyrosine-protein kinase FRK P42685 FRK_HUMAN true false Enzyme Homo_sapiens FRK 505 58253.6 6.65 Involved in protein kinase activity Positively regulates PTEN protein stability through phosphorylation of PTEN on 'Tyr-336', which in turn prevents its ubiquitination and degradation possibly by reducing its binding to NEDD4. May function as a tumor suppressor ["None"] ["None"] AL121963 56203498 FRK Chromosome:6 6q21-q22.3 FRK HGNC:3955 true 2020-06-12T23:06:56Z 2020-06-12T23:06:56Z 0 0 0 1373 CDBP01372 Protein kinase C gamma type P05129 KPCG_HUMAN true false Enzyme Homo_sapiens PRKCG 697 78447.2 7.49 Involved in protein serine/threonine kinase activity PKC is activated by diacylglycerol which in turn phosphorylates a range of cellular proteins. PKC also serves as the receptor for phorbol esters, a class of tumor promoters ["None"] ["None"] AF345987 PRKCG Chromosome:1 19q13.4 PRKCG HGNC:9402 true 2020-06-12T23:06:56Z 2020-07-28T02:26:48Z 0 1 0 1374 CDBP01373 Proto-oncogene tyrosine-protein kinase ROS P08922 ROS_HUMAN true false Enzyme Homo_sapiens ROS1 2347 263912.9 6.02 Involved in protein kinase activity This is probably a cell growth or differentiation factor receptor with a tyrosine-protein kinase activity ["1-27"] ["1860-1882"] AL132671 56203812 ROS1 Chromosome:6 6q22 ROS1 HGNC:10261 true 2020-06-12T23:06:56Z 2020-07-28T02:26:48Z 1 0 0 1375 CDBP01374 V-type proton ATPase 16 kDa proteolipid subunit P27449 VATL_HUMAN true true Enzyme Homo_sapiens ATP6V0C 155 15735.6 8.88 Involved in hydrogen ion transmembrane transporter activity Proton-conducting pore forming subunit of the membrane integral V0 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells ["None"] ["11-33", "56-76", "93-114", "132-152"] BC004537 13528675 ATP6V0C Chromosome:1 16p13.3 ATP6V0C HGNC:855 true 2020-06-12T23:06:56Z 2020-07-28T02:26:48Z 0 0 0 1376 CDBP01375 MAP kinase-interacting serine/threonine-protein kinase 1 Q9BUB5 MKNK1_HUMAN true false Enzyme Homo_sapiens MKNK1 465 51341.9 6.67 Involved in protein serine/threonine kinase activity May play a role in the response to environmental stress and cytokines. Appears to regulate transcription by phosphorylating EIF4E, thus increasing the affinity of this protein for the 7-methylguanosine-containing mRNA cap ["None"] ["None"] NM_003684.4 21361101 MKNK1 Chromosome:1 1p33 MKNK1 HGNC:7110 true 2020-06-12T23:06:56Z 2020-07-28T02:26:48Z 0 0 1 1377 CDBP01376 Mitogen-activated protein kinase 4 P31152 MK04_HUMAN true false Enzyme Homo_sapiens MAPK4 587 65921.0 5.11 Involved in MAP kinase activity Phosphorylates microtubule-associated protein 2 (MAP2). May promote entry in the cell cycle ["None"] ["None"] NM_002747.3 89276769 MAPK4 Chromosome:1 18q21.2 MAPK4 HGNC:6878 true 2020-06-12T23:06:56Z 2020-07-28T02:26:48Z 1 0 0 1378 CDBP01377 Cell division protein kinase 19 Q9BWU1 CDK19_HUMAN true false Enzyme Homo_sapiens CDK19 502 56801.8 8.77 Involved in protein kinase activity ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] NM_015076.3 30387611 CDK19 Chromosome:6 6q21 CDK19 HGNC:19338 true 2020-06-12T23:06:56Z 2020-06-12T23:06:56Z 0 0 0 1379 CDBP01378 Probable phospholipid-transporting ATPase IF Q9Y2G3 AT11B_HUMAN true true Enzyme Homo_sapiens ATP11B 1177 134188.6 6.95 Involved in ATP binding ATP + H(2)O + phospholipid(In) = ADP + phosphate + phospholipid(Out) ["None"] ["56-77", "83-104", "290-311", "342-359", "877-898", "911-930", "961-982", "998-1020", "1026-1047", "1066-1090"] NM_014616.1 62632750 ATP11B Chromosome:3 3q27 ATP11B HGNC:13553 true 2020-06-12T23:06:56Z 2020-07-28T02:26:48Z 0 1 0 1380 CDBP01379 V-type proton ATPase subunit e 1 O15342 VA0E1_HUMAN true true Enzyme Homo_sapiens ATP6V0E1 81 9374.3 8.87 Involved in hydrogen ion transmembrane transporter activity Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells ["None"] ["8-28", "36-56"] Y15286 2584789 ATP6V0E1 Chromosome:5 5q35.1 ATP6V0E1 HGNC:863 true 2020-06-12T23:06:56Z 2020-07-28T02:26:48Z 0 0 0 1381 CDBP01380 Tyrosine-protein kinase ITK/TSK Q08881 ITK_HUMAN true false Enzyme Homo_sapiens ITK 620 71830.4 7.63 Involved in protein kinase activity Plays a role in T-cell proliferation and differentiation ["None"] ["None"] 1SNX D13720 ITK Chromosome:5 5q31-q32 ITK HGNC:6171 true 2020-06-12T23:06:56Z 2020-07-28T02:26:49Z 0 0 0 1382 CDBP01381 Cell division protein kinase 18 Q07002 CDK18_HUMAN true false Enzyme Homo_sapiens CDK18 472 54179.6 8.89 Involved in protein kinase activity May play a role in signal transduction cascades in terminally differentiated cells ["None"] ["None"] AL357131 55664790 CDK18 Chromosome:1 1q31-q32 CDK18 HGNC:8751 true 2020-06-12T23:06:56Z 2020-06-12T23:06:56Z 0 0 0 1383 CDBP01382 Probable phospholipid-transporting ATPase IK O60423 AT8B3_HUMAN true true Enzyme Homo_sapiens ATP8B3 1300 146750.9 7.96 Involved in ATP binding ATP + H(2)O + phospholipid(In) = ADP + phosphate + phospholipid(Out) ["None"] ["150-171", "178-197", "382-403", "431-452", "996-1016", "1029-1048", "1079-1100", "1113-1135", "1142-1162", "1183-1207"] NM_138813.2 44888835 ATP8B3 Chromosome:1 19p13.3 ATP8B3 HGNC:13535 true 2020-06-12T23:06:56Z 2020-07-28T02:26:49Z 0 1 0 1384 CDBP01383 Serine/threonine-protein kinase 4 Q13043 STK4_HUMAN true false Enzyme Homo_sapiens STK4 487 55629.8 4.71 Involved in protein kinase activity Stress-activated, pro-apoptotic kinase which, following caspase-cleavage, enters the nucleus and induces chromatin condensation followed by internucleosomal DNA fragmentation. Key component of the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein MST1/MST2, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. MST1/MST2 are required to repress proliferation of mature hepatocytes, to prevent activation of facultative adult liver stem cells (oval cells), and to inhibit tumor formation. Phosphorylates 'Ser-14' of histone H2B (H2BS14ph) during apoptosis. Phosphorylates FOXO3 upon oxidative stress, which results in its nuclear translocation and cell death initiation ["None"] ["None"] AK315238 189054830 STK4 Chromosome:2 20q11.2-q13.2 STK4 HGNC:11408 true 2020-06-12T23:06:56Z 2020-07-28T02:26:49Z 0 0 0 1385 CDBP01384 Ribosomal protein S6 kinase alpha-5 O75582 KS6A5_HUMAN true false Enzyme Homo_sapiens RPS6KA5 802 89864.7 7.1 Involved in protein serine/threonine kinase activity Serine/threonine kinase required for the mitogen or stress-induced phosphorylation of the transcription factors CREB (cAMP response element-binding protein) and ATF1 (activating transcription factor-1). Essential role in the control of RELA transcriptional activity in response to TNF. Directly represses transcription via phosphorylation of 'Ser-1' of histone H2A. Phosphorylates 'Ser-10' of histone H3 in response to mitogenics, stress stimuli and epidemal growth-factor (EGF), which results in the transcriptional activation of several immediate early genes, including proto-oncogenes c-fos/FOS and c-jun/JUN. May also phosphorylate 'Ser-28' of histone H3. Mediates the mitogen- and stress-induced phosphorylation of high mobility group protein 14 (HMG-14) ["None"] ["None"] 1VZO AF074393 RPS6KA5 Chromosome:1 14q31-q32.1 RPS6KA5 HGNC:10434 true 2020-06-12T23:06:56Z 2020-07-28T02:26:49Z 0 1 0 1386 CDBP01385 Serine/threonine-protein kinase Nek8 Q86SG6 NEK8_HUMAN true false Enzyme Homo_sapiens NEK8 692 74805.6 7.85 Involved in protein kinase activity Required for renal tubular integrity ["None"] ["None"] NM_178170.2 30039692 NEK8 Chromosome:1 17q11.1 NEK8 HGNC:13387 true 2020-06-12T23:06:56Z 2020-07-28T02:26:49Z 0 0 0 1387 CDBP01386 [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial O14874 BCKD_HUMAN true false Enzyme Homo_sapiens BCKDK 412 46360.0 9.06 Involved in ATP binding Catalyzes the phosphorylation and inactivation of the branched-chain alpha-ketoacid dehydrogenase complex, the key regulatory enzyme of the valine, leucine and isoleucine catabolic pathways. Key enzyme that regulate the activity state of the BCKD complex ["None"] ["None"] 1GKZ AF026548 2583173 BCKDK Chromosome:1 16p11.2 BCKDK HGNC:16902 true 2020-06-12T23:06:56Z 2020-06-12T23:06:56Z 0 0 0 1388 CDBP01387 Tyrosine-protein kinase Fes/Fps P07332 FES_HUMAN true false Enzyme Homo_sapiens FES 822 93495.9 6.72 Involved in protein kinase activity ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate ["None"] ["None"] X52192 29891 FES Chromosome:1 15q26.1 FES HGNC:3657 true 2020-06-12T23:06:56Z 2020-06-12T23:06:56Z 0 0 0 1389 CDBP01388 Mitogen-activated protein kinase kinase kinase kinase 4 O95819 M4K4_HUMAN true false Enzyme Homo_sapiens MAP4K4 1239 142099.8 7.49 Involved in small GTPase regulator activity Serine/threonine kinase that may play a role in the response to environmental stress and cytokines such as TNF-alpha. Appears to act upstream of the JUN N-terminal pathway ["None"] ["None"] AY212247 28207195 MAP4K4 Chromosome:2 2q11.2-q12 MAP4K4 HGNC:6866 true 2020-06-12T23:06:56Z 2020-07-28T02:26:49Z 0 0 0 1390 CDBP01389 Tyrosine-protein kinase Fer P16591 FER_HUMAN true false Enzyme Homo_sapiens FER 822 94637.3 7.15 Involved in protein kinase activity Tyrosine kinase of the non-receptor type. Probably performs an important function, perhaps in regulatory processes such as cell cycle control ["None"] ["None"] J03358 339715 FER Chromosome:5 5q21 FER HGNC:3655 true 2020-06-12T23:06:56Z 2020-06-12T23:06:56Z 0 0 0 1391 CDBP01390 Tyrosine-protein kinase STYK1 Q6J9G0 STYK1_HUMAN true false Enzyme Homo_sapiens STYK1 422 47546.3 7.45 Involved in protein kinase activity Probable tyrosine protein-kinase, which has strong transforming capabilities on a variety of cell lines. When overexpressed, it can also induce tumor cell invasion as well as metastasis in distant organs. May act by activating both MAP kinase and phosphatidylinositol 3'-kinases (PI3K) pathways ["None"] ["26-46"] AF251059 13625180 STYK1 Chromosome:1 12p13.2 STYK1 HGNC:18889 true 2020-06-12T23:06:56Z 2020-06-12T23:06:56Z 0 0 0 1392 CDBP01391 Serine/threonine-protein kinase PRKX P51817 PRKX_HUMAN true false Enzyme Homo_sapiens PRKX 358 40895.5 6.85 Involved in ATP binding ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] BC041073 26996827 PRKX true 2020-06-12T23:06:56Z 2020-07-28T02:26:49Z 0 0 0 1393 CDBP01392 Serine/threonine-protein kinase LATS1 O95835 LATS1_HUMAN true false Enzyme Homo_sapiens LATS1 1130 126868.8 9.0 Involved in ATP binding Negative regulator of YAP1 in the Hippo signaling pathway that plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein MST1/MST2, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS1 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. Acts as a tumor suppressor which plays a critical role in maintenance of ploidy through its actions in both mitotic progression and the G1 tetraploidy checkpoint. Negatively regulates G2/M transition by down-regulating CDK1 kinase activity. Involved in the control of p53 expression. Affects cytokinesis by regulating actin polymerization through negative modulation of LIMK1. May also play a role in endocrine function ["None"] ["None"] AF104413 4324434 LATS1 Chromosome:6 6q25.1 true 2020-06-12T23:06:56Z 2020-07-28T02:26:49Z 0 0 0 1394 CDBP01393 Serine/threonine-protein kinase WNK2 Q9Y3S1 WNK2_HUMAN true false Enzyme Homo_sapiens WNK2 2297 242673.8 6.03 Involved in protein kinase activity ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] AJ242724 57161866 WNK2 Chromosome:9 9q22.3 WNK2 HGNC:14542 true 2020-06-12T23:06:56Z 2020-07-28T02:26:49Z 0 0 0 1395 CDBP01394 Serine/threonine-protein kinase MARK2 Q7KZI7 MARK2_HUMAN true false Enzyme Homo_sapiens MARK2 788 87910.0 10.3 Involved in protein serine/threonine kinase activity Role in epithelial morphogenesis. Modulates the developmental decision to build a columnar versus a hepatic epithelial cell apparently by promoting a switch from a direct to a transcytotic mode of apical protein delivery. Essential for the asymmetric development of membrane domains of polarized epithelial cells. One or more isoforms may play a role in graft rejection ["None"] ["None"] NM_001039469.2 254028234 MARK2 Chromosome:1 11q13 MARK2 HGNC:3332 true 2020-06-12T23:06:56Z 2020-07-28T02:26:50Z 0 0 0 1396 CDBP01395 Phosphoglycerate kinase 2 P07205 PGK2_HUMAN true false Enzyme Homo_sapiens PGK2 417 44795.79 8.542 Carbohydrate transport and metabolism AK312770 189053469 PGK2 6 6p12.3 HGNC:8898 true hsa:5232 NP_620061.2:NM_138733.4 Testis specific. Monomer 2020-06-12T23:06:56Z 2020-06-12T23:06:56Z 0 0 0 1397 CDBP01396 High affinity nerve growth factor receptor P04629 NTRK1_HUMAN true false Enzyme Homo_sapiens NTRK1 796 87496.5 6.62 Involved in protein kinase activity Required for high-affinity binding to nerve growth factor (NGF), neurotrophin-3 and neurotrophin-4/5 but not brain- derived neurotrophic factor (BDNF). Known substrates for the Trk receptors are SHC1, PI 3-kinase, and PLC-gamma-1. Has a crucial role in the development and function of the nociceptive reception system as well as establishment of thermal regulation via sweating. Activates ERK1 by either SHC1- or PLC-gamma-1-dependent signaling pathway ["1-32"] ["424-439"] AB019488 3869113 NTRK1 Chromosome:1 1q21-q22 NTRK1 HGNC:8031 true 2020-06-12T23:06:56Z 2020-07-28T02:26:50Z 1 0 0 1398 CDBP01397 Receptor-interacting serine/threonine-protein kinase 2 O43353 RIPK2_HUMAN true false Enzyme Homo_sapiens RIPK2 540 61194.3 7.1 Involved in protein binding Activates pro-caspase-1 and pro-caspase-8. Potentiates CASP8-mediated apoptosis. Activates NF-kappa-B ["None"] ["None"] AC004003 3264574 RIPK2 Chromosome:8 8q21 RIPK2 HGNC:10020 true 2020-06-12T23:06:56Z 2020-06-12T23:06:56Z 0 0 0 1399 CDBP01398 ATP synthase subunit d, mitochondrial O75947 ATP5H_HUMAN true true Enzyme Homo_sapiens ATP5H 161 18491.0 4.94 Involved in hydrogen ion transmembrane transporter acti Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain and the peripheric stalk, which acts as a stator to hold the catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 static relative to the rotary elements ["None"] ["None"] NM_006356.2 5453559 ATP5H Chromosome:1 17q25 true 2020-06-12T23:06:56Z 2020-07-28T02:26:50Z 0 0 0 1400 CDBP01399 Ephrin type-B receptor 3 P54753 EPHB3_HUMAN true false Enzyme Homo_sapiens EPHB3 998 110328.8 6.23 Involved in ATP binding Receptor for members of the ephrin-B family. Binds to ephrin-B1 and -B2 ["1-33"] ["560-580"] BC052968 31418208 EPHB3 Chromosome:3 3q21-qter true 2020-06-12T23:06:56Z 2020-07-28T02:26:50Z 1 0 0 1401 CDBP01400 [Pyruvate dehydrogenase [lipoamide]] kinase isozyme 3, mitochondrial Q15120 PDK3_HUMAN true false Enzyme Homo_sapiens PDK3 406 46938.5 8.61 Involved in ATP binding Inhibits the mitochondrial pyruvate dehydrogenase complex by phosphorylation of the E1 alpha subunit, thus contributing to the regulation of glucose metabolism ["None"] ["None"] L42452 1088285 PDK3 PDK3 HGNC:8811 true 2020-06-12T23:06:56Z 2020-06-12T23:06:56Z 0 0 0 1402 CDBP01401 Tyrosine-protein kinase Srms Q9H3Y6 SRMS_HUMAN true false Enzyme Homo_sapiens SRMS 488 54506.3 8.29 Involved in protein kinase activity May be involved in proliferation or differentiation of keratinocytes in the skin ["None"] ["None"] AL121829 11137518 SRMS SRMS HGNC:11298 true 2020-06-12T23:06:56Z 2020-06-12T23:06:56Z 0 0 0 1403 CDBP01402 Mast/stem cell growth factor receptor P10721 KIT_HUMAN true false Enzyme Homo_sapiens KIT 976 109863.7 6.96 Involved in protein kinase activity This is the receptor for stem cell factor (mast cell growth factor). It has a tyrosine-protein kinase activity. Binding of the ligands leads to the autophosphorylation of KIT and its association with substrates such as phosphatidylinositol 3-kinase (Pi3K) ["1-25"] ["525-545"] X06182 34085 KIT Chromosome:4 4q11-q12 KIT HGNC:6342 true 2020-06-12T23:06:56Z 2020-07-28T02:26:50Z 1 0 0 1404 CDBP01403 Serine/threonine-protein kinase PLK1 P53350 PLK1_HUMAN true false Enzyme Homo_sapiens PLK1 603 68254.0 9.19 Involved in protein binding Serine/threonine-protein kinase that performs several important functions throughout M phase of the cell cycle, including the regulation of centrosome maturation and spindle assembly, the removal of cohesins from chromosome arms, the inactivation of APC/C inhibitors, and the regulation of mitotic exit and cytokinesis. Required for recovery after DNA damage checkpoint and entry into mitosis. Required for kinetochore localization of BUB1B. Phosphorylates SGOL1. Required for spindle pole localization of isoform 3 of SGOL1 and plays a role in regulating its centriole cohesion function. Phosphorylates BORA, and thereby promotes the degradation of BORA. Contributes to the regulation of AURKA function. Regulates TP53 stability through phosphorylation of TOPORS ["None"] ["None"] 1Q4K BC002369 12803131 PLK1 Chromosome:1 16p12.2 PLK1 HGNC:9077 true 2020-06-12T23:06:56Z 2020-07-28T02:26:50Z 1 0 0 1405 CDBP01404 Tyrosine-protein kinase ZAP-70 P43403 ZAP70_HUMAN true false Enzyme Homo_sapiens ZAP70 619 69871.6 7.75 Involved in protein kinase activity Plays a role in T-cell development and lymphocyte activation. Essential for TCR-mediated IL-2 production. Isoform 1 induces TCR-mediated signal transduction, isoform 2 does not ["None"] ["None"] 1U59 NM_001079.3 31455611 ZAP70 Chromosome:2 2q12 ZAP70 HGNC:12858 true 2020-06-12T23:06:56Z 2020-06-12T23:06:56Z 0 0 0 1406 CDBP01405 Mitogen-activated protein kinase 14 Q16539 MK14_HUMAN true false Enzyme Homo_sapiens MAPK14 360 41292.9 5.58 Involved in MAP kinase activity Responds to activation by environmental stress, pro- inflammatory cytokines and lipopolysaccharide (LPS) by phosphorylating a number of transcription factors, such as ELK1 and ATF2 and several downstream kinases, such as MAPKAPK2 and MAPKAPK5. Plays a critical role in the production of some cytokines, for example IL-6. May play a role in stabilization of EPO mRNA during hypoxic stress. Isoform Mxi2 activation is stimulated by mitogens and oxidative stress and only poorly phosphorylates ELK1 and ATF2. Isoform Exip may play a role in the early onset of apoptosis ["None"] ["None"] 1W84 NM_001315.2 4503069 MAPK14 Chromosome:6 6p21.3-p21.2 MAPK14 HGNC:6876 true 2020-06-12T23:06:56Z 2020-07-28T02:26:51Z 1 0 0 1407 CDBP01406 Serine/threonine-protein kinase 17B O94768 ST17B_HUMAN true false Enzyme Homo_sapiens STK17B 372 42343.6 4.91 Involved in protein kinase activity Acts as a positive regulator of apoptosis ["None"] ["None"] AB011421 STK17B Chromosome:2 2q32.3 STK17B HGNC:11396 true 2020-06-12T23:06:56Z 2020-06-12T23:06:56Z 0 0 0 1408 CDBP01407 Rho-associated protein kinase 2 O75116 ROCK2_HUMAN true false Enzyme Homo_sapiens ROCK2 1388 160898.6 5.84 Involved in protein serine/threonine kinase activity Regulates the assembly of the actin cytoskeleton. Promotes formation of stress fibers and of focal adhesion complexes. Plays a role in smooth muscle contraction ["None"] ["None"] NM_004850.3 41872583 ROCK2 Chromosome:2 2p24 ROCK2 HGNC:10252 true 2020-06-12T23:06:56Z 2020-07-28T02:26:51Z 0 0 0 1409 CDBP01408 Activin receptor type-2A P27037 AVR2A_HUMAN false false Receptor Homo_sapiens ACVR2A 513 57847.1 5.76 Involved in receptor signaling protein serine/threonine kinase activity On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for activin A, activin B and inhibin A ["1-19"] ["136-161"] X63128 28350 ACVR2A Chromosome:2 2q22.3 ACVR2A HGNC:173 true 2020-06-12T23:06:56Z 2020-07-28T02:26:51Z 1 0 0 1410 CDBP01409 Transient receptor potential cation channel subfamily M member 7 Q96QT4 TRPM7_HUMAN false true Receptor Homo_sapiens TRPM7 1865 212695.4 7.95 Involved in ion channel activity Essential ion channel and serine/threonine-protein kinase. Divalent cation channel permeable to calcium and magnesium. Has a central role in magnesium ion homeostasis and in the regulation of anoxic neuronal cell death. The kinase activity is essential for the channel function. May be involved in a fundamental process that adjusts plasma membrane divalent cation fluxes according to the metabolic state of the cell. Phosphorylates annexin A1 (ANXA1) ["None"] ["756-776", "856-876", "919-939", "963-983", "996-1016", "1075-1095"] 1IAJ AY032950 TRPM7 Chromosome:1 15q21 TRPM7 HGNC:17994 true 2020-06-12T23:06:56Z 2020-07-28T02:26:51Z 1 0 0 1411 CDBP01410 Insulin receptor P06213 INSR_HUMAN true false Enzyme Homo_sapiens INSR 1382 156331.5 6.14 Involved in transmembrane receptor protein tyrosine kinase activity This receptor binds insulin and has a tyrosine-protein kinase activity. Isoform Short has a higher affinity for insulin. Mediates the metabolic functions of insulin. Binding to insulin stimulates association of the receptor with downstream mediators including IRS1 and phosphatidylinositol 3'-kinase (PI3K). Can activate PI3K either directly by binding to the p85 regulatory subunit, or indirectly via IRS1. When present in a hybrid receptor with IGF1R, binds IGF1. PubMed:12138094 shows that hybrid receptors composed of IGF1R and INSR isoform Long are activated with a high affinity by IGF1, with low affinity by IGF2 and not significantly activated by insulin, and that hybrid receptors composed of IGF1R and INSR isoform Short are activated by IGF1, IGF2 and insulin. In contrast, PubMed:16831875 shows that hybrid receptors composed of IGF1R and INSR isoform Long and hybrid receptors composed of IGF1R and INSR isoform Short have similar binding characteristics, both bind IGF1 and have a low affinity for insulin ["1-27"] ["957-979"] 1IRK M10051 307070 INSR Chromosome:1 19p13.3-p13.2 INSR HGNC:6091 true 2020-06-12T23:06:56Z 2020-07-28T02:26:51Z 1 0 0 1412 CDBP01411 Cell division protein kinase 11B P21127 CD11B_HUMAN true false Enzyme Homo_sapiens CDK11B 795 92706.3 5.27 Involved in protein kinase activity Appears to play multiple roles in cell cycle progression, cytokinesis and apoptosis. The p110 isoforms have been suggested to be involved in pre-mRNA splicing, potentially by phosphorylating the splicing protein SFRS7. The p58 isoform may act as a negative regulator of normal cell cycle progression ["None"] ["None"] AF067515 3850310 CDK11B Chromosome:1 1p36.33 CDK11B HGNC:1729 true 2020-06-12T23:06:56Z 2020-07-28T02:26:51Z 0 0 0 1413 CDBP01412 Anti-Muellerian hormone type-2 receptor Q16671 AMHR2_HUMAN false false Receptor Homo_sapiens AMHR2 573 62749.0 5.61 Involved in transmembrane receptor protein serine/threonine kinase activity On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for anti-Muellerian hormone ["1-17"] ["150-170"] AF172932 AMHR2 Chromosome:1 12q13 AMHR2 HGNC:465 true 2020-06-12T23:06:56Z 2020-07-28T02:26:51Z 1 1 0 1414 CDBP01413 Testis-specific serine/threonine-protein kinase 1 Q9BXA7 TSSK1_HUMAN true false Enzyme Homo_sapiens TSSK1B 367 41617.5 7.79 Involved in protein kinase activity May be involved in a signaling pathway during male germ cell development or mature sperm function ["None"] ["None"] AF348076 13540324 TSSK1B Chromosome:5 5q22.2 TSSK1B HGNC:14968 true 2020-06-12T23:06:56Z 2020-07-28T02:26:51Z 0 1 0 1415 CDBP01414 Serine/threonine-protein kinase DCLK2 Q8N568 DCLK2_HUMAN true false Enzyme Homo_sapiens DCLK2 766 83604.9 8.46 Involved in intracellular signaling pathway Protein kinase with a significantly reduced Ca2+/CAM affinity and dependence compared to other members of the CaMK family. May play a role in the down-regulation of CRE-dependent gene activation probably by phosphorylation of the CREB coactivator CRTC2/TORC2 and the resulting retention of TORC2 in the cytoplasm ["None"] ["None"] NM_001040260.3 156713428 DCLK2 Chromosome:4 4q31.3 DCLK2 HGNC:19002 true 2020-06-12T23:06:56Z 2020-06-12T23:06:56Z 0 0 0 1416 CDBP01415 Proto-oncogene tyrosine-protein kinase receptor Ret P07949 RET_HUMAN true false Enzyme Homo_sapiens RET 1114 124317.5 6.57 Involved in calcium ion binding Probable receptor with tyrosine-protein kinase activity; important for development ["1-28"] ["636-657"] NM_020975.4 10862703 RET Chromosome:1 10q11.2 RET HGNC:9967 true 2020-06-12T23:06:56Z 2020-07-28T02:26:51Z 0 1 0 1417 CDBP01416 Mitogen-activated protein kinase 6 Q16659 MK06_HUMAN true false Enzyme Homo_sapiens MAPK6 721 82680.1 4.67 Involved in MAP kinase activity Phosphorylates microtubule-associated protein 2 (MAP2). May promote entry in the cell cycle ["None"] ["None"] X80692 763113 MAPK6 Chromosome:1 15q21 MAPK6 HGNC:6879 true 2020-06-12T23:06:56Z 2020-07-28T02:26:51Z 1 0 0 1418 CDBP01417 Phosphoglycerate kinase 1 P00558 PGK1_HUMAN true false Enzyme Homo_sapiens PGK1 417 44614.36 8.102 Involved in phosphoglycerate kinase activity In addition to its role as a glycolytic enzyme, it seems that PGK-1 acts as a polymerase alpha cofactor protein (primer recognition protein). 2WZB;2WZC;2WZD;2X13;2X14;2X15;2XE6;2XE7;2XE8;2Y3I;2YBE;2ZGV;3C39;3C3A;3C3B;3C3C V00572 35435 PGK1 X Xq13.3 PGK1 HGNC:8896 true hsa:5230 NP_000282.1:NM_000291.3 Monomer 2020-06-12T23:06:56Z 2020-06-12T23:06:56Z 0 0 0 1419 CDBP01418 Serine/threonine-protein kinase 17A Q9UEE5 ST17A_HUMAN true false Enzyme Homo_sapiens STK17A 414 46558.7 4.72 Involved in ATP binding Acts as a positive regulator of apoptosis ["None"] ["None"] AB011420 3834354 STK17A Chromosome:7 7p13 true 2020-06-12T23:06:56Z 2020-06-12T23:06:56Z 0 0 0 1420 CDBP01419 Serine/threonine-protein kinase 11 Q15831 STK11_HUMAN true false Enzyme Homo_sapiens STK11 433 48635.4 7.47 Involved in protein kinase activity Essential role in G1 cell cycle arrest. Phosphorylates and activates members of the AMPK-related subfamily of protein kinases. Tumor suppressor ["None"] ["None"] AF035625 2754827 STK11 Chromosome:1 19p13.3 STK11 HGNC:11389 true 2020-06-12T23:06:56Z 2020-07-28T02:26:52Z 0 0 0 1421 CDBP01420 Serine/threonine-protein kinase N1 Q16512 PKN1_HUMAN true false Enzyme Homo_sapiens PKN1 942 103931.0 6.3 Involved in androgen receptor binding PKC-related serine/threonine-protein kinase involved in various processes such as regulation of the intermediate filaments of the actin cytoskeleton and transcription regulation. Regulates the cytoskeletal network by phosphorylating proteins such as VIM and neurofilament proteins NEFH, NEFL and NEFM, leading to inhibit their polymerization. Phosphorylates 'Ser-575', 'Ser-637' and 'Ser-669' of MAPT/Tau, lowering its ability to bind to microtubules, resulting in disruption of tubulin assembly. Acts as a key coactivator of androgen receptor (ANDR)-dependent transcription, by being recruited to ANDR target genes and specifically mediating phosphorylation of 'Thr-11' of histone H3 (H3T11ph), a specific tag for epigenetic transcriptional activation that promotes demethylation of histone H3 'Lys-9' (H3K9me) by KDM4C/JMJD2C. Phosphorylates HDAC5, HDAC7 and HDAC9, leading to impair their import in the nucleus. Phosphorylates 'Thr-38' of PPP1R14A, 'Ser-159', 'Ser-163' and 'Ser-170' of MARCKS, and GFAP. Able to phosphorylate RPS6 in vitro ["None"] ["None"] NM_002741.3 47132589 PKN1 Chromosome:1 19p13.12 true 2020-06-12T23:06:56Z 2020-06-12T23:06:56Z 0 0 0 1422 CDBP01421 ATP synthase subunit f, mitochondrial P56134 ATPK_HUMAN true false Enzyme Homo_sapiens ATP5J2 94 10917.8 10.09 Involved in transmembrane transporter activity Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. Minor subunit located with subunit a in the membrane ["None"] ["None"] AF047436 3335128 ATP5J2 Chromosome:7 7q22.1 ATP5J2 HGNC:848 true 2020-06-12T23:06:56Z 2020-06-12T23:06:56Z 0 0 0 1423 CDBP01422 Mitogen-activated protein kinase 10 P53779 MK10_HUMAN true false Enzyme Homo_sapiens MAPK10 464 52585.0 6.78 Involved in MAP kinase activity Responds to activation by environmental stress and pro- inflammatory cytokines by phosphorylating a number of transcription factors, primarily components of AP-1 such as c-Jun and ATF2 and thus regulates AP-1 transcriptional activity. Required for stress-induced neuronal apoptosis and the pathogenesis of glutamate excitotoxicity ["None"] ["None"] 1JNK NM_138982.2 20986510 MAPK10 Chromosome:4 4q22.1-q23 MAPK10 HGNC:6872 true 2020-06-12T23:06:56Z 2020-07-28T02:26:52Z 1 0 0 1424 CDBP01423 Sodium/potassium-transporting ATPase subunit alpha-2 P50993 AT1A2_HUMAN true true Enzyme Homo_sapiens ATP1A2 1020 112264.385 5.651 Involved in ATP binding This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium, providing the energy for active transport of various nutrients. NM_000702.3 4502271 ATP1A2 1 1q23.2 ATP1A2 HGNC:800 true hsa:477 NP_000693.1:NM_000702.3 Composed of three subunits: alpha (catalytic), beta and gamma 2020-06-12T23:06:56Z 2020-07-28T02:26:52Z 0 1 0 1425 CDBP01424 Mitogen-activated protein kinase 8 P45983 MK08_HUMAN true false Enzyme Homo_sapiens MAPK8 427 48295.1 6.89 Involved in MAP kinase activity JNK1 isoforms display different binding patterns:beta-1 preferentially binds to c-Jun, whereas alpha-1, alpha-2, and beta- 2 have a similar low level of binding to both c-Jun or ATF2. However, there is no correlation between binding and phosphorylation, which is achieved at about the same efficiency by all isoforms ["None"] ["None"] 1UKI NM_139047.1 20986521 MAPK8 Chromosome:1 10q11.22 MAPK8 HGNC:6881 true 2020-06-12T23:06:56Z 2020-07-28T02:26:52Z 1 0 0 1426 CDBP01425 Ephrin type-B receptor 2 P29323 EPHB2_HUMAN true false Enzyme Homo_sapiens EPHB2 1055 117491.7 6.51 Involved in ephrin receptor activity Receptor for members of the ephrin-B family. Acts as a tumor suppressor ["1-18"] ["544-564"] 1JPA AF025304 2739056 EPHB2 Chromosome:1 1p36.1-p35 EPHB2 HGNC:3393 true 2020-06-12T23:06:56Z 2020-07-28T02:26:52Z 1 0 0 1427 CDBP01426 LIM domain kinase 1 P53667 LIMK1_HUMAN true false Enzyme Homo_sapiens LIMK1 647 72584.4 6.98 Involved in ATP binding Protein kinase which regulates actin filament dynamics. Phosphorylates and inactivates the actin binding/depolymerizing factor cofilin, thereby stabilizing the actin cytoskeleton. Stimulates axonal outgrowth and may be involved in brain development. Isoform 3 has a dominant negative effect on actin cytoskeletal changes ["None"] ["None"] NM_002314.2 4505001 LIMK1 Chromosome:7 7q11.23 true 2020-06-12T23:06:56Z 2020-07-28T02:26:52Z 0 1 0 1428 CDBP01427 Serine/threonine-protein kinase H1 P11801 KPSH1_HUMAN true false Enzyme Homo_sapiens PSKH1 424 48034.7 10.28 Involved in protein kinase activity May be a SFC-associated serine kinase (splicing factor compartment-associated serine kinase) with a role in intranuclear SR protein (non-snRNP splicing factors containing a serine/arginine-rich domain) trafficking and pre-mRNA processing ["None"] ["None"] AJ272212 7981277 PSKH1 Chromosome:1 16q22.1 PSKH1 HGNC:9529 true 2020-06-12T23:06:56Z 2020-06-12T23:06:56Z 0 0 0 1429 CDBP01428 Isopentenyl-diphosphate Delta-isomerase 2 Q9BXS1 IDI2_HUMAN true false Enzyme Homo_sapiens IDI2 227 26752.33 6.453 Lipid transport and metabolism Catalyzes the 1,3-allylic rearrangement of the homoallylic substrate isopentenyl (IPP) to its highly electrophilic allylic isomer, dimethylallyl diphosphate (DMAPP). 2PNY AF271725 13925769 IDI2 10 10p15.3 HGNC:23487 true hsa:91734 HS07522-MONOMER NP_150286.1:NM_033261.2 Detected in skeletal muscle. magnesium ion 2020-06-12T23:06:56Z 2020-07-28T02:26:52Z 0 1 0 1430 CDBP01429 Isopentenyl-diphosphate Delta-isomerase 1 Q13907 IDI1_HUMAN true false Enzyme Homo_sapiens IDI1 227 32485.165 7.89 Involved in isopentenyl-diphosphate delta-isomerase activity Catalyzes the 1,3-allylic rearrangement of the homoallylic substrate isopentenyl (IPP) to its highly electrophilic allylic isomer, dimethylallyl diphosphate (DMAPP). 2DHO;2I6K;2ICJ;2ICK AF271720 13925759 IDI1 10 10p15.3 IDI1 HGNC:5387 true hsa:3422 HS00895-MONOMER NP_004499.2:NM_004508.2 magnesium ion Monomer 2020-06-12T23:06:56Z 2020-07-28T02:26:52Z 0 1 0 1431 CDBP01430 Alkyldihydroxyacetonephosphate synthase, peroxisomal O00116 ADAS_HUMAN true false Enzyme Homo_sapiens AGPS 658 72911.2 7.37 Involved in catalytic activity 1-acyl-glycerone 3-phosphate + a long-chain alcohol = an alkyl-glycerone 3-phosphate + a long-chain acid anion ["None"] ["None"] AK314259 189054871 AGPS Chromosome:2 2q31.2 AGPS HGNC:327 true 2020-06-12T23:06:56Z 2020-07-28T02:26:52Z 0 0 0 1432 CDBP01431 Dihydroxyacetone phosphate acyltransferase O15228 GNPAT_HUMAN true false Enzyme Homo_sapiens GNPAT 680 77187.185 6.559 Lipid transport and metabolism AF043937 3258645 GNPAT 1 1q42 HGNC:4416 true hsa:8443 NP_055051.1:NM_014236.3 May be part of a heterotrimeric complex composed of DAP-AT, ADAP-S and a modified form of DAP-AT 2020-06-12T23:06:56Z 2020-06-12T23:06:56Z 0 0 0 1433 CDBP01432 Cytochrome P450 2E1 P05181 CP2E1_HUMAN false false Metal Binding Homo_sapiens CYP2E1 493 56848.42 8.104 Involved in monooxygenase activity Metabolizes several precarcinogens, drugs, and solvents to reactive metabolites. Inactivates a number of drugs and xenobiotics and also bioactivates many xenobiotic substrates to their hepatotoxic or carcinogenic forms. 3E4E;3E6I;3GPH;3KOH;3LC4;3T3Z J02625 CYP2E1 10 10q24.3-qter CYP2E1 HGNC:2631 true hsa:1571 HS05414-MONOMER NP_000764.1:NM_000773.3 Heme group 2020-06-12T23:06:56Z 2020-07-28T02:31:56Z 0 1 0 1434 CDBP01433 Cytochrome P450 4F11 Q9HBI6 CP4FB_HUMAN false false Metal Binding Homo_sapiens CYP4F11 524 60145.165 6.722 Secondary metabolites biosynthesis, transport and catabolism NM_001128932.1 193083180 CYP4F11 19 19p13.1 HGNC:13265 true hsa:57834 NP_001122404.1:NM_001128932.1;NP_067010.3:NM_021187.3 Expressed mainly in human liver, followed by kidney, heart, and skeletal muscle. Heme group 2020-06-12T23:06:56Z 2020-07-28T02:31:56Z 0 1 0 1435 CDBP01434 Cytochrome P450 3A43 Q9HB55 CP343_HUMAN false false Metal Binding Homo_sapiens CYP3A43 503 57756.285 8.097 Involved in monooxygenase activity Exhibits low testosterone 6-beta-hydroxylase activity. AF319634 12642642 CYP3A43 7 7q21.1 CYP3A43 HGNC:17450 true hsa:64816 NP_073731.1:NM_022820.3;NP_476436.1:NM_057095.1;NP_476437.1:NM_057096.2 Highest expression level in prostate. Also expressed in liver, kidney, pancreas, fetal liver and fetal skeletal muscle. Heme group 2020-06-12T23:06:56Z 2020-07-28T02:31:56Z 0 1 0 1436 CDBP01435 Cytochrome P450 1B1 Q16678 CP1B1_HUMAN false false Metal Binding Homo_sapiens CYP1B1 543 60845.33 8.98 Involved in monooxygenase activity Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. Participates in the metabolism of an as-yet-unknown biologically active molecule that is a participant in eye development. 3PM0 U03688 501031 CYP1B1 2 2p22.2 CYP1B1 HGNC:2597 true hsa:1545 HS06443-MONOMER NP_000095.2:NM_000104.3 Expressed in many tissues. Heme group 2020-06-12T23:06:56Z 2020-07-28T02:31:56Z 0 1 0 1437 CDBP01436 Cytochrome P450 2D6 P10635 CP2D6_HUMAN false false Metal Binding Homo_sapiens CYP2D6 497 55768.94 7.248 Involved in monooxygenase activity Responsible for the metabolism of many drugs and environmental chemicals that it oxidizes. It is involved in the metabolism of drugs such as antiarrhythmics, adrenoceptor antagonists, and tricyclic antidepressants. 2F9Q;3QM4;3TBG;3TDA AY545216 45024928 CYP2D6 22 22q13.1 CYP2D6 HGNC:2625 true hsa:1565 NP_000097.3:NM_000106.5;NP_001020332.2:NM_001025161.2 Heme group 2020-06-12T23:06:56Z 2020-07-28T02:31:56Z 0 1 0 1438 CDBP01437 Cytochrome P450 2C18 P33260 CP2CI_HUMAN false false Metal Binding Homo_sapiens CYP2C18 490 55710.075 7.199 Involved in monooxygenase activity Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. 2H6P AK313403 189066652 CYP2C18 10 10q24 CYP2C18 HGNC:2620 true hsa:1562 NP_000763.1:NM_000772.2;NP_001122397.1:NM_001128925.1 Heme group 2020-06-12T23:06:56Z 2020-07-28T02:31:56Z 0 1 0 1439 CDBP01438 Cytochrome P450 4F12 Q9HCS2 CP4FC_HUMAN false false Metal Binding Homo_sapiens CYP4F12 524 60308.195 7.551 Involved in monooxygenase activity Catalyzes leukotriene B4 omega-hydroxylation and arachidonic acid omega-hydroxylation but with an activity much lower than that of CYP4F2. Catalyzes the hydroxylation of the antihistamine ebastine. AB035130 11275334 CYP4F12 19 19p13.1 CYP4F12 HGNC:18857 true hsa:66002 NP_076433.3:NM_023944.3 Expressed in small intestine, liver, colon and heart. Heme group 2020-06-12T23:06:56Z 2020-07-28T02:31:56Z 0 1 0 1440 CDBP01439 Cytochrome P450 2F1 P24903 CP2F1_HUMAN false false Metal Binding Homo_sapiens CYP2F1 491 55500.64 7.366 Secondary metabolites biosynthesis, transport and catabolism May be involved in the metabolism of various pneumotoxicants including naphthalene. Is able to dealkylate ethoxycoumarin, propoxycoumarin, and pentoxyresorufin but possesses no activity toward ethoxyresorufin and only trace dearylation activity toward benzyloxyresorufin. Bioactivates 3-methylindole (3MI) by dehydrogenation to the putative electrophile 3-methylene-indolenine. NM_000774.3 19743565 CYP2F1 19 19q13.2 HGNC:2632 true hsa:1572 NP_000765.2:NM_000774.3 Expressed in lung. Rarely detected in liver and placenta. Heme group 2020-06-12T23:06:56Z 2020-07-28T02:31:56Z 0 1 0 1441 CDBP01440 Cytochrome P450 4X1 Q8N118 CP4X1_HUMAN false false Metal Binding Homo_sapiens CYP4X1 509 58874.62 8.481 Involved in monooxygenase activity AK098065 21757998 CYP4X1 1 1 CYP4X1 HGNC:20244 true hsa:260293 NP_828847.1:NM_178033.1 Expressed in brain, heart and kidney and, at lower levels, in skeletal muscle and liver. In the heart, very high level levels in aorta, but very levels in other heart regions. Heme group 2020-06-12T23:06:56Z 2020-07-28T02:31:57Z 0 1 0 1442 CDBP01441 Cytochrome P450 2B6 P20813 CP2B6_HUMAN false false Metal Binding Homo_sapiens CYP2B6 491 56277.81 8.282 Involved in monooxygenase activity Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. Acts as a 1,4-cineole 2-exo-monooxygenase. 3IBD;3QOA;3QU8;3UA5 M29874 CYP2B6 19 19q13.2 CYP2B6 HGNC:2615 true hsa:1555 HS09587-MONOMER NP_000758.1:NM_000767.4 Expressed in liver, lung and heart right ventricle. Heme group 2020-06-12T23:06:56Z 2020-07-28T02:31:57Z 0 1 0 1443 CDBP01442 Cytochrome P450 3A5 P20815 CP3A5_HUMAN false false Metal Binding Homo_sapiens CYP3A5 502 57108.065 8.744 Involved in monooxygenase activity Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. AC005020 41393491 CYP3A5 7 7q21.1 CYP3A5 HGNC:2638 true hsa:1577 NP_000768.1:NM_000777.3;NP_001177413.1:NM_001190484.1 Heme group 2020-06-12T23:06:56Z 2020-07-28T02:31:57Z 0 1 0 1444 CDBP01443 Cytochrome P450 1A1 P04798 CP1A1_HUMAN false false Metal Binding Homo_sapiens CYP1A1 512 58164.815 8.347 Involved in monooxygenase activity Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. K03191 181276 CYP1A1 15 15q24.1 CYP1A1 HGNC:2595 true hsa:1543 NP_000490.1:NM_000499.3 Lung, lymphocytes and placenta. Heme group 2020-06-12T23:06:56Z 2020-07-28T02:31:57Z 0 1 0 1445 CDBP01444 Cytochrome P450 2A13 Q16696 CP2AD_HUMAN false false Metal Binding Homo_sapiens CYP2A13 494 56687.095 9.27 Involved in monooxygenase activity Exhibits a coumarin 7-hydroxylase activity. Active in the metabolic activation of hexamethylphosphoramide, N,N-dimethylaniline, 2'-methoxyacetophenone, N-nitrosomethylphenylamine, and the tobacco-specific carcinogen, 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone. Possesses phenacetin O-deethylation activity. 2P85;2PG5;2PG6;2PG7;3T3S;4EJG;4EJH;4EJI AF209774 CYP2A13 19 19q13.2 CYP2A13 HGNC:2608 true hsa:1553 NP_000757.2:NM_000766.4 Expressed in liver and a number of extrahepatic tissues, including nasal mucosa, lung, trachea, brain, mammary gland, prostate, testis, and uterus, but not in heart, kidney, bone marrow, colon, small intestine, spleen, stomach, thymus, or skeletal muscle. Heme group 2020-06-12T23:06:56Z 2020-07-28T02:31:57Z 0 1 0 1446 CDBP01445 Cytochrome P450 3A7 P24462 CP3A7_HUMAN false false Metal Binding Homo_sapiens CYP3A7 503 57525.03 9.141 Involved in monooxygenase activity Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. AF280107 11177455 CYP3A7 7 7q21-q22.1 CYP3A7 HGNC:2640 true hsa:1551 NP_000756.2:NM_000765.3 Heme group 2020-06-12T23:06:56Z 2020-07-28T02:31:57Z 0 1 0 1447 CDBP01446 Cytochrome P450 4B1 P13584 CP4B1_HUMAN false false Metal Binding Homo_sapiens CYP4B1 511 58990.64 8.263 Involved in monooxygenase activity Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. AF491285 20067171 CYP4B1 1 1p34-p12 CYP4B1 HGNC:2644 true hsa:1580 NP_000770.2:NM_000779.3;NP_001093242.1:NM_001099772.1 Detected in the liver and lung (at protein level). Heme group 2020-06-12T23:06:56Z 2020-07-28T02:31:57Z 0 1 0 1448 CDBP01447 Cytochrome P450 4Z1 Q86W10 CP4Z1_HUMAN false false Metal Binding Homo_sapiens CYP4Z1 505 59085.45 9.186 Secondary metabolites biosynthesis, transport and catabolism AK292175 158257782 CYP4Z1 1 1p33 HGNC:20583 true hsa:199974 NP_835235.1:NM_178134.2 Preferentially detected in breast carcinoma tissue and mammary gland, whereas only marginal expression is found in all other tested tissues. Heme group 2020-06-12T23:06:56Z 2020-07-28T02:31:57Z 0 1 0 1449 CDBP01448 Cytochrome P450 1A2 P05177 CP1A2_HUMAN false false Metal Binding Homo_sapiens CYP1A2 515 58406.915 9.049 Involved in monooxygenase activity Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. Most active in catalyzing 2-hydroxylation. Caffeine is metabolized primarily by cytochrome CYP1A2 in the liver through an initial N3-demethylation. Also acts in the metabolism of aflatoxin B1 and acetaminophen. Participates in the bioactivation of carcinogenic aromatic and heterocyclic amines. Catalizes the N-hydroxylation of heterocyclic amines and the O-deethylation of phenacetin. 2HI4 Z00036 30339 CYP1A2 15 15q24.1 CYP1A2 HGNC:2596 true hsa:1544 HS06728-MONOMER NP_000752.2:NM_000761.3 Liver. Heme group 2020-06-12T23:06:56Z 2020-07-28T02:31:57Z 0 1 0 1450 CDBP01449 Cytochrome P450 19A1 P11511 CP19A_HUMAN false false Metal Binding Homo_sapiens CYP19A1 503 57882.48 7.502 Involved in monooxygenase activity Catalyzes the formation of aromatic C18 estrogens from C19 androgens. 1TQA;3EQM;3S79;3S7S;4GL5;4GL7 AY957953 61354153 CYP19A1 15 15q21.1 CYP19A1 HGNC:2594 true hsa:1588 HS06413-MONOMER NP_000094.2:NM_000103.3;NP_112503.1:NM_031226.2 Brain, placenta and gonads. Heme group 2020-06-12T23:06:56Z 2020-07-28T02:31:57Z 0 1 0 1451 CDBP01450 Cytochrome P450 2C8 P10632 CP2C8_HUMAN false false Metal Binding Homo_sapiens CYP2C8 490 55824.275 8.5 Involved in monooxygenase activity Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. In the epoxidation of arachidonic acid it generates only 14,15- and 11,12-cis-epoxyeicosatrienoic acids. It is the principal enzyme responsible for the metabolism the anti-cancer drug paclitaxel (taxol). 1PQ2;2NNH;2NNI;2NNJ;2VN0 AK292753 158258943 CYP2C8 10 10q23.33 CYP2C8 HGNC:2622 true hsa:1558 NP_000761.3:NM_000770.3;NP_001185782.1:NM_001198853.1;NP_001185783.1:NM_001198854.1;NP_001185784.1:NM_001198855.1 Heme group 2020-06-12T23:06:56Z 2020-07-28T02:31:57Z 0 1 0 1452 CDBP01451 Cytochrome P450 2S1 Q96SQ9 CP2S1_HUMAN false false Metal Binding Homo_sapiens CYP2S1 504 55816.205 8.619 Involved in monooxygenase activity Has a potential importance for extrahepatic xenobiotic metabolism. AF335278 13161184 CYP2S1 19 19q13.1 CYP2S1 HGNC:15654 true hsa:29785 NP_085125.1:NM_030622.6 High level of expression in trachea, lung, stomach, small intestine, and spleen. Heme group 2020-06-12T23:06:56Z 2020-07-28T02:31:57Z 0 1 0 1453 CDBP01452 Cytochrome P450 4F8 P98187 CP4F8_HUMAN false false Metal Binding Homo_sapiens CYP4F8 520 59993.995 8.429 Secondary metabolites biosynthesis, transport and catabolism Hydroxylates arachidonic acid (20:4n-6) to (18R)-hydroxyarachidonate. Shows little activity against prostaglandin (PG) D2, PGE1, PGE2, PGF2alpha, and leukotriene B4. Catalyzes omega-2 and omega-3-hydroxylation of PGH1 and PGH2. Catalyzes epoxidation of 4,7,10,13,16,19-(Z)-docosahexaenoic acid (22:6n-3) and 7,10,13,16,19-(Z)-docosapentaenoic acid (22:5n-3) and omega-3-hydroxylation of 4,7,10,13,16-(Z)-docosapentaenoic acid (22:5n-6). Catalyzes hydroxylation of PGI2 and carbaprostacyclin. AF133298 5733409 CYP4F8 19 19p13.1 HGNC:2648 true hsa:11283 NP_009184.1:NM_007253.3 Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. Heme group 2020-06-12T23:06:56Z 2020-07-28T02:31:57Z 0 1 0 1454 CDBP01453 Cytochrome P450 2J2 P51589 CP2J2_HUMAN false false Metal Binding Homo_sapiens CYP2J2 502 57610.165 8.6 Involved in monooxygenase activity This enzyme metabolizes arachidonic acid predominantly via a NADPH-dependent olefin epoxidation to all four regioisomeric cis-epoxyeicosatrienoic acids. One of the predominant enzymes responsible for the epoxidation of endogenous cardiac arachidonic acid pools. U37143 CYP2J2 1 1p31.3-p31.2 CYP2J2 HGNC:2634 true hsa:1573 NP_000766.2:NM_000775.2 Highly expressed in heart, present at lower levels in liver, ileum, jejunum, colon, and kidney. Heme group 2020-06-12T23:06:56Z 2020-07-28T02:31:57Z 0 1 0 1455 CDBP01454 Cytochrome P450 2A7 P20853 CP2A7_HUMAN false false Metal Binding Homo_sapiens CYP2A7 494 56424.735 7.834 Secondary metabolites biosynthesis, transport and catabolism Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. NM_000764.2 15147330 CYP2A7 19 19q13.2 HGNC:2611 true hsa:1549 NP_000755.2:NM_000764.2;NP_085079.2:NM_030589.2 Heme group 2020-06-12T23:06:56Z 2020-07-28T02:31:57Z 0 1 0 1456 CDBP01455 Cytochrome P450 2A6 P11509 CP2A6_HUMAN false false Metal Binding Homo_sapiens CYP2A6 494 56517.005 9.193 Involved in monooxygenase activity Exhibits a high coumarin 7-hydroxylase activity. Can act in the hydroxylation of the anti-cancer drugs cyclophosphamide and ifosphamide. Competent in the metabolic activation of aflatoxin B1. Constitutes the major nicotine C-oxidase. Acts as a 1,4-cineole 2-exo-monooxygenase. Possesses low phenacetin O-deethylation activity. 1Z10;1Z11;2FDU;2FDV;2FDW;2FDY;3EBS;3T3Q;3T3R;4EJJ NM_000762.5 189339233 CYP2A6 19 19q13.2 CYP2A6 HGNC:2610 true hsa:1548 HS10343-MONOMER NP_000753.3:NM_000762.5 Liver. Heme group 2020-06-12T23:06:56Z 2020-07-28T02:31:57Z 0 1 0 1457 CDBP01456 Beta,beta-carotene 15,15'-monooxygenase Q9HAY6 BCDO1_HUMAN true false Enzyme Homo_sapiens BCMO1 547 62636.69 6.672 Secondary metabolites biosynthesis, transport and catabolism Symmetrically cleaves beta-carotene into two molecules of retinal. The reaction proceeds in three stages, epoxidation of the 15,15'-double bond, hydration of the double bond leading to ring opening, and oxidative cleavage of the diol formed. AF294900 BCMO1 16 16q23.2 BCMO1 HGNC:13815 true hsa:53630 HS06050-MONOMER NP_059125.2:NM_017429.2 Highly expressed in retinal pigment epithelium. Also expressed in kidney, testis, liver, brain, small intestine and colon. Fe(2+) ion 2020-06-12T23:06:56Z 2020-07-28T02:26:55Z 0 1 0 1458 CDBP01457 Inositol polyphosphate 5-phosphatase OCRL-1 Q01968 OCRL_HUMAN true false Enzyme Homo_sapiens OCRL 901 104203.78 6.549 Involved in inositol or phosphatidylinositol phosphatase activity Converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate. Also converts inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate and inositol 1,3,4,5-tetrakisphosphate to inositol 1,3,4-trisphosphate. May function in lysosomal membrane trafficking by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with lysosomes. Involved in primary cilia assembly. 2KIE;2QV2;3QBT;3QIS AL022162 66347006 OCRL X Xq25 OCRL HGNC:8108 true hsa:4952 HS04546-MONOMER NP_000267.2:NM_000276.3;NP_001578.2:NM_001587.3 Brain, skeletal muscle, heart, kidney, lung, placenta and fibroblasts. Expressed in the retina and the retinal pigment epithelium. Interacts with APPL1, FAM109A/SES1 and FAM109B/SES2; APPL1-binding and FAM109A-binding are mutually exclusive. Interacts with clathrin heavy chain. Interacts with several Rab GTPases, at least RAB1B, RAB5A, RAB6A, RAB8A and RAB31; these interactions may play a dual role in targeting OCRL to the specific membranes and stimulating the phosphatase activity. Interaction with RAB8A modulates OCRL recruitment to cilia 2020-06-12T23:06:56Z 2020-07-28T02:26:55Z 1 0 0 1459 CDBP01458 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN P60484 PTEN_HUMAN true false Enzyme Homo_sapiens PTEN 403 47165.92 6.371 Involved in magnesium ion binding Tumor suppressor. Acts as a dual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- and threonine-phosphorylated proteins. Also acts as a lipid phosphatase, removing the phosphate in the D3 position of the inositol ring from phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 3,4-diphosphate, phosphatidylinositol 3-phosphate and inositol 1,3,4,5-tetrakisphosphate with order of substrate preference in vitro PtdIns(3,4,5)P3 > PtdIns(3,4)P2 > PtdIns3P > Ins(1,3,4,5)P4. The lipid phosphatase activity is critical for its tumor suppressor function. Antagonizes the PI3K-AKT/PKB signaling pathway by dephosphorylating phosphoinositides and thereby modulating cell cycle progression and cell survival. The unphosphorylated form cooperates with AIP1 to suppress AKT1 activation. Dephosphorylates tyrosine-phosphorylated focal adhesion kinase and inhibits cell migration and integrin-mediated cell spreading and focal adhesion formation. Plays a role as a key modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including correct neuron positioning, dendritic development and synapse formation. May be a negative regulator of insulin signaling and glucose metabolism in adipose tissue. The nuclear monoubiquitinated form possesses greater apoptotic potential, whereas the cytoplasmic nonubiquitinated form induces less tumor suppressive ability. 1D5R;2KYL U96180 PTEN 10 10q23.3 PTEN HGNC:9588 true hsa:5728 HS10404-MONOMER NP_000305.3:NM_000314.4 Expressed at a relatively high level in all adult tissues, including heart, brain, placenta, lung, liver, muscle, kidney and pancreas. Magnesium Monomer. The unphosphorylated form interacts with the second PDZ domain of AIP1 and with DLG1 and MAST2 in vitro. Interacts with MAGI2, MAGI3, MAST1 and MAST3, but neither with MAST4 nor with DLG5. Interaction with MAGI2 increases protein stability. Interacts with NEDD4. Interacts with NDFIP1 and NDFIP2; in the presence of NEDD4 or ITCH, this interaction promotes PTEN ubiquitination. Interacts (via C2 domain) with FRK. Interacts with USP7; the interaction is direct. Interacts with ROCK1 . Interacts with XIAP/BIRC4 2020-06-12T23:06:56Z 2020-07-28T02:26:55Z 1 1 1 1460 CDBP01459 Synaptojanin-2 O15056 SYNJ2_HUMAN true false Enzyme Homo_sapiens SYNJ2 1496 165536.575 7.341 Involved in nucleotide binding Inositol 5-phosphatase which may be involved in distinct membrane trafficking and signal transduction pathways. May mediate the inhibitory effect of Rac1 on endocytosis. 1UFW NM_003898.3 26190608 SYNJ2 6 6q25.3 SYNJ2 HGNC:11504 true hsa:8871 HS01279-MONOMER NP_003889.1:NM_003898.3 Binds to GRB2. Isoform 2A binds to SYNJ2BP/OMP25. Isoform 2B2 C-terminal proline-rich region binds to a variety of SH3 domain-containing proteins including SH3GL1, SH3GL2, SH3GL3 and GRB2 2020-06-12T23:06:56Z 2020-06-12T23:06:56Z 0 0 0 1461 CDBP01460 72 kDa inositol polyphosphate 5-phosphatase Q9NRR6 INP5E_HUMAN true false Enzyme Homo_sapiens INPP5E 644 70204.435 8.96 Involved in inositol-polyphosphate 5-phosphatase activity Converts phosphatidylinositol 3,4,5-trisphosphate (PtdIns 3,4,5-P3) to PtdIns-P2. Specific for lipid substrates, inactive towards water soluble inositol phosphates. 2XSW AF187891 8925284 INPP5E 9 9q34.3 HGNC:21474 true hsa:56623 HS09270-MONOMER NP_063945.2:NM_019892.4 Detected in brain, heart, pancreas, testis and spleen. 2020-06-12T23:06:56Z 2020-06-12T23:06:56Z 0 0 0 1462 CDBP01461 Synaptojanin-1 O43426 SYNJ1_HUMAN true false Enzyme Homo_sapiens SYNJ1 1573 143252.18 7.323 Cell cycle control, cell division, chromosome partitioning Inositol 5-phosphatase which has a role in clathrin-mediated endocytosis. 1W80;2DNR;2VJ0 NM_003895 237757310 SYNJ1 21 21q22.2 HGNC:11503 true hsa:8867 HS08354-MONOMER NP_001153774.1:NM_001160302.1;NP_001153778.1:NM_001160306.1;NP_003886.3:NM_003895.3;NP_982271.2:NM_203446.2 Concentrated at clathrin-coated endocytic intermediates in nerve terminals. Isoform 1 is more enriched than isoform 2 in developing brain as well as non-neuronal cells. Isoform 2 is very abundant in nerve terminals. Interacts with ASH/GRB2 . Binds AMPH, SH3GL1, SH3GL2 and SH3GL3. Interacts with MYO1E (via SH3 domain) 2020-06-12T23:06:56Z 2020-07-28T02:26:55Z 1 0 0 1463 CDBP01462 Thiamine-triphosphatase Q9BU02 THTPA_HUMAN true false Enzyme Homo_sapiens THTPA 230 25565.685 4.816 Involved in adenylate cyclase activity Hydrolase highly specific for thiamine triphosphate (ThTP). 3BHD;3TVL AF432862 THTPA 14 14q11.2 THTPA HGNC:18987 true hsa:79178 NP_001119811.1:NM_001126339.2;NP_001243250.1:NM_001256321.1;NP_001243251.1:NM_001256322.1;NP_001243252.1:NM_001256323.1;NP_077304.1:NM_024328.4 Widely expressed but at a low level. Monomer 2020-06-12T23:06:56Z 2020-07-28T02:26:55Z 0 1 0 1464 CDBP01463 Hematopoietic prostaglandin D synthase O60760 HPGDS_HUMAN true false Enzyme Homo_sapiens HPGDS 199 23343.65 5.849 Involved in glutathione transferase activity Bifunctional enzyme which catalyzes both the conversion of PGH2 to PGD2, a prostaglandin involved in smooth muscle contraction/relaxation and a potent inhibitor of platelet aggregation, and the conjugation of glutathione with a wide range of aryl halides and organic isothiocyanates. Also exhibits low glutathione-peroxidase activity towards cumene hydroperoxide. 1IYH;1IYI;1V40;2CVD;2VCQ;2VCW;2VCX;2VCZ;2VD0;2VD1;3EE2;3KXO;3VI5;3VI7;4EC0;4EDY;4EDZ;4EE0 D82073 HPGDS 4 4q22.3 HPGDS HGNC:17890 true hsa:27306 NP_055300.1:NM_014485.2 Expressed in a number of megakaryocytic cell lines but not in platelets. Highly expressed in adipose tissue, macrophages and placenta. Also expressed at lower levels in lung, heart, lymph nodes, appendix, bone marrow and fetal liver. Glutathione. Required for the prostaglandin D synthase activity Homodimer 2020-06-12T23:06:56Z 2020-06-12T23:06:56Z 0 0 0 1465 CDBP01464 Prostaglandin-H2 D-isomerase P41222 PTGDS_HUMAN true true Enzyme Homo_sapiens PTGDS 190 21028.665 7.796 Involved in binding Catalyzes the conversion of PGH2 to PGD2, a prostaglandin involved in smooth muscle contraction/relaxation and a potent inhibitor of platelet aggregation. Involved in a variety of CNS functions, such as sedation, NREM sleep and PGE2-induced allodynia, and may have an anti-apoptotic role in oligodendrocytes. Binds small non-substrate lipophilic molecules, including biliverdin, bilirubin, retinal, retinoic acid and thyroid hormone, and may act as a scavenger for harmful hydrophopic molecules and as a secretory retinoid and thyroid hormone transporter. Possibly involved in development and maintenance of the blood-brain, blood-retina, blood-aqueous humor and blood-testis barrier. It is likely to play important roles in both maturation and maintenance of the central nervous system and male reproductive system. 2WWP;3O19;3O22;3O2Y M61900 PTGDS 9 9q34.2-q34.3 PTGDS HGNC:9592 true hsa:5730 NP_000945.3:NM_000954.5 Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. Monomer 2020-06-12T23:06:56Z 2020-07-28T02:26:55Z 0 0 0 1466 CDBP01465 1-acyl-sn-glycerol-3-phosphate acyltransferase gamma Q9NRZ7 PLCC_HUMAN true false Enzyme Homo_sapiens AGPAT3 376 43380.605 8.72 Involved in acyltransferase activity Converts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acyl moiety at the sn-2 position of the glycerol backbone. Acts on LPA containing saturated or unsaturated fatty acids C16:0-C20:4 at the sn-1 position using C18:1, C20:4 or C18:2-CoA as the acyl donor. Also acts on lysophosphatidylcholine, lysophosphatidylinositol and lysophosphatidylserine using C18:1 or C20:4-CoA. AB040138 11611541 AGPAT3 21 21q22.3 AGPAT3 HGNC:326 true hsa:56894 HS08470-MONOMER NP_001032642.1:NM_001037553.1;NP_064517.1:NM_020132.4 Widely expressed with highest levels in testis, pancreas and kidney, followed by spleen, lung, adipose tissue and liver. 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1467 CDBP01466 Glycylpeptide N-tetradecanoyltransferase 1 P30419 NMT1_HUMAN true false Enzyme Homo_sapiens NMT1 496 56805.865 7.797 Involved in glycylpeptide N-tetradecanoyltransferase activity Adds a myristoyl group to the N-terminal glycine residue of certain cellular and viral proteins. 1RXT;3IU1;3IU2;3IWE;3JTK AF043324 NMT1 17 17q21.31 NMT1 HGNC:7857 true hsa:4836 NP_066565.1:NM_021079.3 Heart, gut, kidney, liver and placenta. 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1468 CDBP01467 1-acyl-sn-glycerol-3-phosphate acyltransferase beta O15120 PLCB_HUMAN true false Enzyme Homo_sapiens AGPAT2 278 27278.915 8.913 Lipid transport and metabolism Converts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acyl moiety at the sn-2 position of the glycerol backbone. AF000237 2282590 AGPAT2 9 9q34.3 HGNC:325 true hsa:10555 HS09990-MONOMER NP_001012745.1:NM_001012727.1;NP_006403.2:NM_006412.3 Expressed predominantly in heart and liver. 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1469 CDBP01468 Glycylpeptide N-tetradecanoyltransferase 2 O60551 NMT2_HUMAN true false Enzyme Homo_sapiens NMT2 498 56979.755 7.574 Involved in glycylpeptide N-tetradecanoyltransferase activity Adds a myristoyl group to the N-terminal glycine residue of certain cellular and viral proteins. AF043325 3005065 NMT2 10 10p13 NMT2 HGNC:7858 true hsa:9397 NP_004799.1:NM_004808.2 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1470 CDBP01469 1-acyl-sn-glycerol-3-phosphate acyltransferase alpha Q99943 PLCA_HUMAN true false Enzyme Homo_sapiens AGPAT1 283 31716.27 9.383 Involved in acyltransferase activity Converts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acyl moiety at the sn-2 position of the glycerol backbone. AL662828 55961399 AGPAT1 6 6p21.3 AGPAT1 HGNC:324 true hsa:10554 HS09762-MONOMER NP_006402.1:NM_006411.3;NP_116130.2:NM_032741.4 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1471 CDBP01470 Catalase P04040 CATA_HUMAN true false Enzyme Homo_sapiens CAT 527 59755.82 7.384 Involved in catalase activity Occurs in almost all aerobically respiring organisms and serves to protect cells from the toxic effects of hydrogen peroxide. Promotes growth of cells including T-cells, B-cells, myeloid leukemia cells, melanoma cells, mastocytoma cells and normal and transformed fibroblast cells. 1DGB;1DGF;1DGG;1DGH;1F4J;1QQW X04076 29721 CAT 11 11p13 CAT HGNC:1516 true hsa:847 MONOMER66-341 NP_001743.1:NM_001752.3 Heme group;NADP Homotetramer 2020-06-12T23:06:57Z 2020-07-28T02:26:56Z 0 1 1 1472 CDBP01471 Thromboxane-A synthase P24557 THAS_HUMAN true false Enzyme Homo_sapiens TBXAS1 533 60648.885 7.627 Involved in monooxygenase activity NM_001130966 195972896 TBXAS1 7 7q34-q35 TBXAS1 HGNC:11609 true hsa:6916 NP_001052.2:NM_001061.4;NP_001124438.1:NM_001130966.2 Platelets, lung, kidney, spleen, macrophages and lung fibroblasts. Heme group Monomer 2020-06-12T23:06:57Z 2020-07-28T02:26:56Z 0 1 0 1473 CDBP01472 Triosephosphate isomerase P60174 TPIS_HUMAN true false Enzyme Homo_sapiens TPI1 249 26669.33 6.906 Involved in catalytic activity 1HTI;1WYI;2IAM;2IAN;2JK2;2VOM;4E41 M10036 339841 TPI1 12 12p13 TPI1 HGNC:12009 true hsa:7167 HS03441-MONOMER NP_000356.1:NM_000365.5;NP_001152759.1:NM_001159287.1;NP_001244955.1:NM_001258026.1 Homodimer 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1474 CDBP01473 Phosphatidylinositol-glycan-specific phospholipase D P80108 PHLD_HUMAN true false Enzyme Homo_sapiens GPLD1 840 92335.705 6.362 Involved in glycosylphosphatidylinositol phospholipase D activity This protein hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans (GPI-anchor) thus releasing these proteins from the membrane. AJ308108 20269065 GPLD1 6 6p22.1 GPLD1 HGNC:4459 true hsa:2822 NP_001494.2:NM_001503.3 Monomer 2020-06-12T23:06:57Z 2020-07-28T02:26:56Z 1 0 0 1475 CDBP01474 N-sulphoglucosamine sulphohydrolase P51688 SPHM_HUMAN true false Enzyme Homo_sapiens SGSH 502 56694.875 6.952 Inorganic ion transport and metabolism AK291257 158255950 SGSH 17 17q25.3 HGNC:10818 true hsa:6448 NP_000190.1:NM_000199.3 calcium ion 2020-06-12T23:06:57Z 2020-07-28T02:26:56Z 0 1 0 1476 CDBP01475 Phosphoacetylglucosamine mutase O95394 AGM1_HUMAN true false Enzyme Homo_sapiens PGM3 542 62940.905 5.999 Involved in intramolecular transferase activity, phosphotransferases Interconverts GlcNAc-6-P and GlcNAc-1-P. AF102265 PGM3 6 6q14.1-q15 PGM3 HGNC:8907 true hsa:5238 HS00347-MONOMER NP_001186846.1:NM_001199917.1;NP_056414.1:NM_015599.2 Found in many tissues except lung. Relatively high expression in pancreas, heart, liver, and placenta, and relatively low expression in brain, skeletal muscle and kidney. magnesium ion 2020-06-12T23:06:57Z 2020-07-28T02:26:56Z 0 1 0 1477 CDBP01476 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 P04843 RPN1_HUMAN true false Enzyme Homo_sapiens RPN1 607 68568.81 6.381 Involved in dolichyl-diphosphooligosaccharide-protein glycotransferase activity Essential subunit of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. Y00281 36053 RPN1 3 3q21.3 RPN1 HGNC:10381 true hsa:6184 NP_002941.1:NM_002950.3 Expressed in all tissues tested. Component of the oligosaccharyltransferase (OST) complex. OST seems to exist in different forms which contain at least RPN1, RPN2, OST48, DAD1, OSTC, KRTCAP2 and either STT3A or STT3B. OST can form stable complexes with the Sec61 complex or with both the Sec61 and TRAP complexes 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1478 CDBP01477 Dolichyldiphosphatase 1 Q86YN1 DOPP1_HUMAN true false Enzyme Homo_sapiens DOLPP1 238 22133.63 9.552 Involved in catalytic activity Required for efficient N-glycosylation. Necessary for maintaining optimal levels of dolichol-linked oligosaccharides. Hydrolyzes dolichyl pyrophosphate at a very high rate and dolichyl monophosphate at a much lower rate. Does not act on phosphatidate (By similarity). AK290713 158254862 DOLPP1 9 9q34.1 DOLPP1 HGNC:29565 true hsa:57171 NP_001129389.1:NM_001135917.1;NP_065171.2:NM_020438.4 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1479 CDBP01478 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit P39656 OST48_HUMAN true false Enzyme Homo_sapiens DDOST 456 50701.205 6.4 Involved in dolichyl-diphosphooligosaccharide-protein glycotransferase activity Essential subunit of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. NM_005216.4 20070197 DDOST 1 1p36.1 DDOST HGNC:2728 true hsa:1650 NP_005207.2:NM_005216.4 Component of the oligosaccharyltransferase (OST) complex. OST seems to exist in different forms which contain at least RPN1, RPN2, OST48, DAD1, OSTC, KRTCAP2 and either STT3A or STT3B. OST can form stable complexes with the Sec61 complex or with both the Sec61 and TRAP complexes even after release from the ribosome 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1480 CDBP01479 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2 P04844 RPN2_HUMAN true false Enzyme Homo_sapiens RPN2 631 67722.73 6.067 Involved in dolichyl-diphosphooligosaccharide-protein glycotransferase activity Essential subunit of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. AJ237734 5834424 RPN2 20 20q12-q13.1 RPN2 HGNC:10382 true hsa:6185 NP_001129243.1:NM_001135771.1;NP_002942.2:NM_002951.3 Expressed in all tissues tested. Component of the oligosaccharyltransferase (OST) complex. OST seems to exist in different forms which contain at least RPN1, RPN2, OST48, DAD1, OSTC, KRTCAP2 and either STT3A or STT3B. OST can form stable complexes with the Sec61 complex or with both the Sec61 and TRAP complexes 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1481 CDBP01480 Alpha-L-iduronidase P35475 IDUA_HUMAN true false Enzyme Homo_sapiens IDUA 653 Carbohydrate transport and metabolism 1Y24 M74715 184559 IDUA HGNC:5391 true hsa:3425 HS05096-MONOMER NP_000194.2:NM_000203.3 Ubiquitous. Monomer (Probable) 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1482 CDBP01481 Iduronate 2-sulfatase P22304 IDS_HUMAN true false Enzyme Homo_sapiens IDS 550 Involved in catalytic activity Required for the lysosomal degradation of heparan sulfate and dermatan sulfate. M58342 184562 IDS IDS HGNC:5389 true hsa:3423 HS00286-MONOMER NP_000193.1:NM_000202.5;NP_006114.1:NM_006123.4 Liver, kidney, lung, and placenta. calcium ion Liver iduronate 2-sulfatase is composed of two major forms (A and B) which contain both a 42 kDa and a 14 kDa polypeptides 2020-06-12T23:06:57Z 2020-07-28T02:26:57Z 0 1 0 1483 CDBP01482 Alpha-N-acetylglucosaminidase P54802 ANAG_HUMAN true false Enzyme Homo_sapiens NAGLU 743 Involved in alpha-N-acetylglucosaminidase activity Involved in the degradation of heparan sulfate. U43573 1171231 NAGLU NAGLU HGNC:7632 true hsa:4669 NP_000254.2:NM_000263.3 Liver, ovary, peripheral blood leukocytes, testis, prostate, spleen, colon, lung, placenta and kidney. Monomer and homodimer 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1484 CDBP01483 N-acetylglucosamine-6-sulfatase P15586 GNS_HUMAN true false Enzyme Homo_sapiens GNS 552 Involved in catalytic activity Z12173 31867 GNS GNS HGNC:4422 true hsa:2799 HS06046-MONOMER NP_002067.1:NM_002076.3 calcium ion 2020-06-12T23:06:57Z 2020-07-28T02:26:57Z 0 1 0 1485 CDBP01484 Mitochondrial dicarboxylate carrier Q9UBX3 DIC_HUMAN true false Enzyme Homo_sapiens SLC25A10 287 31282.2 9.91 Involved in binding Involved in translocation of malonate, malate and succinate in exchange for phosphate, sulfate, sulfite or thiosulfate across mitochondrial inner membrane ["None"] ["10-30", "63-82", "103-123", "163-182", "203-223", "255-275"] AJ131613 6179584 SLC25A10 Chromosome:1 17q25.3 SLC25A10 HGNC:10980 true 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1486 CDBP01485 Tricarboxylate transport protein, mitochondrial P53007 TXTP_HUMAN false true Transporter Homo_sapiens SLC25A1 311 34012.5 10.44 Involved in transporter activity Involved in citrate-H(+)/malate exchange. Important for the bioenergetics of hepatic cells as it provides a carbon source for fatty acid and sterol biosyntheses, and NAD+ for the glycolytic pathway ["None"] ["29-46", "86-105", "129-143", "183-202", "224-241", "278-297"] AK292313 158258058 SLC25A1 Chromosome:2 22q11.21 SLC25A1 HGNC:10979 true 2020-06-12T23:06:57Z 2020-07-28T02:32:07Z 0 0 0 1487 CDBP01486 Lysozyme C P61626 LYSC_HUMAN true false Enzyme Homo_sapiens LYZ 148 16536.9 9.35 Involved in lysozyme activity Lysozymes have primarily a bacteriolytic function; those in tissues and body fluids are associated with the monocyte- macrophage system and enhance the activity of immunoagents ["1-18"] ["None"] 1C46 BC004147 13278744 LYZ Chromosome:1 12q15 true 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1488 CDBP01487 Alpha-2A adrenergic receptor P08913 ADA2A_HUMAN true false Enzyme Homo_sapiens ADRA2A 450 48956.3 10.2 Involved in G-protein coupled receptor protein signaling pathway Alpha-2 adrenergic receptors mediate the catecholamine- induced inhibition of adenylate cyclase through the action of G proteins. The rank order of potency for agonists of this receptor is oxymetazoline > clonidine > epinephrine > norepinephrine > phenylephrine > dopamine > p-synephrine > p-tyramine > serotonin = p-octopamine. For antagonists, the rank order is yohimbine > phentolamine = mianserine > chlorpromazine = spiperone = prazosin > propanolol > alprenolol = pindolol ["None"] ["34-59", "71-96", "107-129", "152-172", "195-217", "375-395", "410-429"] 1HOF AF284095 ADRA2A Chromosome:1 10q24-q26 ADRA2A HGNC:281 true 2020-06-12T23:06:57Z 2020-07-28T02:26:57Z 1 0 0 1489 CDBP01488 Alpha-2B adrenergic receptor P18089 ADA2B_HUMAN true false Enzyme Homo_sapiens ADRA2B 450 49953.1 8.52 Involved in G-protein coupled receptor protein signaling pathway Alpha-2 adrenergic receptors mediate the catecholamine- induced inhibition of adenylate cyclase through the action of G proteins. The rank order of potency for agonists of this receptor is clonidine > norepinephrine > epinephrine = oxymetazoline > dopamine > p-tyramine = phenylephrine > serotonin > p-synephrine / p-octopamine. For antagonists, the rank order is yohimbine > chlorpromazine > phentolamine > mianserine > spiperone > prazosin > alprenolol > propanolol > pindolol ["None"] ["13-38", "50-75", "86-108", "131-153", "170-193", "373-396", "406-429"] 1HOF M34041 178198 ADRA2B Chromosome:2 2p13-q13 ADRA2B HGNC:282 true 2020-06-12T23:06:57Z 2020-07-28T02:26:57Z 1 0 0 1490 CDBP01489 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2 Q99490 AGAP2_HUMAN true false Enzyme Homo_sapiens AGAP2 1192 124672.3 10.54 Involved in ARF GTPase activator activity GTPase-activating protein (GAP) for ARF1 and ARF5, which also shows strong GTPase activity. Isoform 1 participates in the prevention of neuronal apoptosis by enhancing PI3 kinase activity. It aids the coupling of metabotropic glutamate receptor 1 (GRM1) to cytoplasmic PI3 kinase by interacting with Homer scaffolding proteins, and also seems to mediate anti-apoptotic effects of NGF by activating nuclear PI3 kinase. Isoform 2 does not stimulate PI3 kinase but may protect cells from apoptosis by stimulating Akt. It also regulates the adapter protein 1 (AP-1)-dependent trafficking of proteins in the endosomal system. It seems to be oncogenic. It is overexpressed in cancer cells, prevents apoptosis and promotes cancer cell invasion ["None"] ["None"] 2BMJ NM_001122772.1 170650694 AGAP2 Chromosome:1 12q14.1 AGAP2 HGNC:16921 true 2020-06-12T23:06:57Z 2020-07-28T02:26:57Z 0 1 0 1491 CDBP01490 Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase Q92685 ALG3_HUMAN true false Enzyme Homo_sapiens ALG3 438 44369.995 8.939 Involved in transferase activity, transferring hexosyl groups Adds the first Dol-P-Man derived mannose in an alpha-1,3 linkage to Man5GlcNAc2-PP-Dol. BC002839 12803981 ALG3 3 3q27.1 ALG3 HGNC:23056 true hsa:10195 NP_001006942.1:NM_001006941.2;NP_005778.1:NM_005787.5 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1492 CDBP01491 Phosphomannomutase 2 O15305 PMM2_HUMAN true false Enzyme Homo_sapiens PMM2 246 28081.925 6.778 Involved in catalytic activity Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions (By similarity). 2AMY;2Q4R U85773 2218087 PMM2 16 16p13 PMM2 HGNC:9115 true hsa:5373 NP_000294.1:NM_000303.2 Homodimer 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1493 CDBP01492 Phosphomannomutase 1 Q92871 PMM1_HUMAN true false Enzyme Homo_sapiens PMM1 262 29746.545 5.747 Involved in metal ion binding Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. In addition, may be responsible for the degradation of glucose-1,6-bisphosphate in ischemic brain. 2FUC;2FUE AL023553 5304855 PMM1 22 22q13.2 HGNC:9114 true hsa:5372 NP_002667.2:NM_002676.2 Strong expression in liver, heart, brain, and pancreas; lower expression in skeletal muscle. Magnesium Homodimer 2020-06-12T23:06:57Z 2020-07-28T02:26:57Z 0 1 0 1494 CDBP01493 Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase Q10469 MGAT2_HUMAN true false Enzyme Homo_sapiens MGAT2 447 51549.84 8.761 Involved in alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity Catalyzes an essential step in the conversion of oligo-mannose to complex N-glycans. AK056167 193786354 MGAT2 14 14q21 MGAT2 HGNC:7045 true hsa:4247 NP_002399.1:NM_002408.3 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1495 CDBP01494 Ribose-5-phosphate isomerase P49247 RPIA_HUMAN true false Enzyme Homo_sapiens RPIA 311 33268.72 8.538 Involved in ribose-5-phosphate isomerase activity NM_144563.2 94536842 RPIA 2 2p11.2 RPIA HGNC:10297 true hsa:22934 NP_653164.2:NM_144563.2;XP_003960338.1:XM_003960289.1 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1496 CDBP01495 Solute carrier family 22 member 5 O76082 S22A5_HUMAN false true Transporter Homo_sapiens SLC22A5 557 62751.1 8.04 Involved in ion transmembrane transporter activity Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Also relative uptake activity ratio of carnitine to TEA is 11.3 ["None"] ["21-41", "143-163", "173-193", "198-218", "233-253", "258-278", "342-362", "374-394", "407-427", "431-451", "463-483", "489-509"] AF057164 SLC22A5 Chromosome:5 5q31 SLC22A5 HGNC:10969 true 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1497 CDBP01496 Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial P45954 ACDSB_HUMAN true false Enzyme Homo_sapiens ACADSB 432 47485.035 6.991 Involved in acyl-CoA dehydrogenase activity Has greatest activity toward short branched chain acyl-CoA derivative such as (s)-2-methylbutyryl-CoA, isobutyryl-CoA, and 2-methylhexanoyl-CoA as well as toward short straight chain acyl-CoAs such as butyryl-CoA and hexanoyl-CoA. Can use valproyl-CoA as substrate and may play a role in controlling the metabolic flux of valproic acid in the development of toxicity of this agent. 2JIF U12778 ACADSB 10 10q26.13 ACADSB HGNC:91 true hsa:36 NP_001600.1:NM_001609.3 Ubiquitous. FAD Homotetramer 2020-06-12T23:06:57Z 2020-07-28T02:26:57Z 0 0 0 1498 CDBP01497 Neutrophil cytosol factor 2 P19878 NCF2_HUMAN true false Enzyme Homo_sapiens NCF2 526 59761.1 6.02 Involved in electron carrier activity NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production) ["None"] ["None"] 1HH8 AF527950 22023953 NCF2 Chromosome:1 1q25 true 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1499 CDBP01498 Neutrophil cytosol factor 4 Q15080 NCF4_HUMAN true false Enzyme Homo_sapiens NCF4 339 39031.3 6.81 Involved in protein binding Component of the NADPH-oxidase, a multicomponent enzyme system responsible for the oxidative burst in which electrons are transported from NADPH to molecular oxygen, generating reactive oxidant intermediates. It may be important for the assembly and/or activation of the NADPH-oxidase complex ["None"] ["None"] 1H6H NM_000631.4 47519798 NCF4 Chromosome:2 22q13.1 NCF4 HGNC:7662 true 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1500 CDBP01499 Prostaglandin reductase 1 Q14914 PTGR1_HUMAN true false Enzyme Homo_sapiens PTGR1 329 35869.6 8.53 Involved in zinc ion binding Functions as 15-oxo-prostaglandin 13-reductase and acts on 15-oxo-PGE1, 15-oxo-PGE2 and 15-oxo-PGE2-alpha. Has no activity towards PGE1, PGE2 and PGE2-alpha. Catalyzes the conversion of leukotriene B4 into its biologically less active metabolite, 12-oxo-leukotriene B4. This is an initial and key step of metabolic inactivation of leukotriene B4 ["None"] ["None"] AK289597 158260217 PTGR1 Chromosome:9 9q31.3 PTGR1 HGNC:18429 true 2020-06-12T23:06:57Z 2020-07-28T02:26:58Z 0 1 0 1501 CDBP01500 ATP-binding cassette sub-family A member 1 O95477 ABCA1_HUMAN false false Enzyme Homo_sapiens ABCA1 2261 254299.9 6.84 Involved in ATP binding cAMP-dependent and sulfonylurea-sensitive anion transporter. Key gatekeeper influencing intracellular cholesterol transport ["None"] ["22-42", "640-660", "683-703", "716-736", "745-765", "777-797", "827-847", "1041-1057", "1351-1371", "1657-1677", "1703-1723", "1735-1755", "1768-1788", "1802-1822", "1852-1872"] AF285167 9755159 ABCA1 Chromosome:9 9q31.1 ABCA1 HGNC:29 true 2020-06-12T23:06:57Z 2020-07-28T02:33:35Z 0 0 0 1502 CDBP01501 Microsomal triglyceride transfer protein large subunit P55157 MTP_HUMAN false true Transporter Homo_sapiens MTTP 894 99350.3 8.62 Involved in lipid transporter activity Catalyzes the transport of triglyceride, cholesteryl ester, and phospholipid between phospholipid surfaces. Required for the secretion of plasma lipoproteins that contain apolipoprotein B ["1-18"] ["None"] X75500 414669 MTTP Chromosome:4 4q24 MTTP HGNC:7467 true 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1503 CDBP01502 Apolipoprotein A-I P02647 APOA1_HUMAN true false Enzyme Homo_sapiens APOA1 267 30777.6 5.5 Involved in lipid binding Participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). As part of the SPAP complex, activates spermatozoa motility ["1-18"] ["None"] 1AV1 X02162 28772 APOA1 Chromosome:1 11q23-q24 APOA1 HGNC:600 true 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1504 CDBP01503 Cholesteryl ester transfer protein P11597 CETP_HUMAN false true Transporter Homo_sapiens CETP 493 54755.7 6.02 Involved in lipid binding Involved in the transfer of insoluble cholesteryl esters in the reverse transport of cholesterol ["1-17"] ["None"] M30185 180260 CETP Chromosome:1 16q21 CETP HGNC:1869 true 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1505 CDBP01504 Sex hormone-binding globulin P04278 SHBG_HUMAN true false Enzyme Homo_sapiens SHBG 402 43778.8 6.7 Involved in androgen binding Functions as an androgen transport protein, but may also be involved in receptor mediated processes. Each dimer binds one molecule of steroid. Specific for 5-alpha-dihydrotestosterone, testosterone, and 17-beta-estradiol. Regulates the plasma metabolic clearance rate of steroid hormones by controlling their plasma concentration ["1-29"] ["None"] 1F5F NM_001040.3 7382460 SHBG Chromosome:1 17p13-p12 SHBG HGNC:10839 true 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1506 CDBP01505 Androgen receptor P10275 ANDR_HUMAN true false Enzyme Homo_sapiens AR 919 98987.9 6.38 Involved in DNA binding Steroid hormone receptors are ligand-activated transcription factors that regulate eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Transcription factor activity is modulated by bound coactivator and corepressor proteins. Transcription activation is down-regulated by NR0B2. Activated, but not phosphorylated, by HIPK3 ["None"] ["None"] 1E3G M20132 178628 AR AR HGNC:644 true 2020-06-12T23:06:57Z 2020-07-28T02:26:58Z 1 1 1 1507 CDBP01506 Hemoglobin subunit beta P68871 HBB_HUMAN false false Metal Binding Homo_sapiens HBB 147 15998.3 7.32 Involved in iron ion binding LVV-hemorphin-7 potentiates the activity of bradykinin, causing a decrease in blood pressure ["None"] ["None"] 1DXT AF007546 2253432 HBB Chromosome:1 11p15.5 HBB HGNC:4827 true 2020-06-12T23:06:57Z 2020-07-28T02:31:57Z 0 1 0 1508 CDBP01507 Hemoglobin subunit alpha P69905 HBA_HUMAN false false Metal Binding Homo_sapiens HBA1 142 15257.4 9.09 Involved in iron ion binding Involved in oxygen transport from the lung to the various peripheral tissues ["None"] ["None"] 1Y01 V00493 28558 HBA1 Chromosome:1 16p13.3 HBA1 HGNC:4823 true 2020-06-12T23:06:57Z 2020-07-28T02:31:57Z 0 1 0 1509 CDBP01508 Hemoglobin subunit gamma-1 P69891 HBG1_HUMAN false false Metal Binding Homo_sapiens HBG1 147 16140.4 7.23 Involved in iron ion binding Gamma chains make up the fetal hemoglobin F, in combination with alpha chains ["None"] ["None"] 1I3E AF130098 11493500 HBG1 Chromosome:1 11p15.5 HBG1 HGNC:4831 true 2020-06-12T23:06:57Z 2020-07-28T02:31:57Z 0 1 0 1510 CDBP01509 Hemopexin P02790 HEMO_HUMAN false false Enzyme Homo_sapiens HPX 462 51676.0 7.02 Involved in heme transporter activity Binds heme and transports it to the liver for breakdown and iron recovery, after which the free hemopexin returns to the circulation ["1-23"] ["None"] AK313648 189053897 HPX Chromosome:1 11p15.5-p15.4 true 2020-06-12T23:06:57Z 2020-07-28T02:33:35Z 0 0 0 1511 CDBP01510 25-hydroxycholesterol 7-alpha-hydroxylase O75881 CP7B1_HUMAN true false Enzyme Homo_sapiens CYP7B1 506 58255.325 8.014 Involved in monooxygenase activity AF029403 3702794 CYP7B1 8 8q21.3 CYP7B1 HGNC:2652 true hsa:9420 NP_004811.1:NM_004820.3 Brain, testis, ovary, prostate, liver, colon, kidney, and small intestine. Heme group 2020-06-12T23:06:57Z 2020-07-28T02:26:58Z 1 1 0 1512 CDBP01511 Cytochrome c oxidase subunit 1 P00395 COX1_HUMAN true false Enzyme Homo_sapiens MT-CO1 513 57040.91 6.701 Involved in iron ion binding Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Subunits 1-3 form the functional core of the enzyme complex. CO I is the catalytic subunit of the enzyme. Electrons originating in cytochrome c are transferred via the copper A center of subunit 2 and heme A of subunit 1 to the bimetallic center formed by heme A3 and copper B. V00662 13006 MT-CO1 MT-CO1 HGNC:7419 true hsa:4512 YP_003024028.1:NC_012920.1 2020-06-12T23:06:57Z 2020-07-28T02:26:58Z 0 1 0 1513 CDBP01512 Protoheme IX farnesyltransferase, mitochondrial Q12887 COX10_HUMAN true false Enzyme Homo_sapiens COX10 443 Involved in protoheme IX farnesyltransferase activity Converts protoheme IX and farnesyl diphosphate to heme O (By similarity). NM_001303.3 17921982 COX10 COX10 HGNC:2260 true hsa:1352 NP_001294.2:NM_001303.3 2020-06-12T23:06:57Z 2020-07-28T02:26:58Z 0 0 0 1514 CDBP01513 Beta-1 adrenergic receptor P08588 ADRB1_HUMAN true false Enzyme Homo_sapiens ADRB1 477 51322.1 9.03 Involved in G-protein coupled receptor protein signaling pathway Beta-adrenergic receptors mediate the catecholamine- induced activation of adenylate cyclase through the action of G proteins. This receptor binds epinephrine and norepinephrine with approximately equal affinity ["None"] ["56-84", "94-120", "133-154", "173-196", "223-248", "320-349", "355-377"] J03019 178200 ADRB1 Chromosome:1 10q24-q26 ADRB1 HGNC:285 true 2020-06-12T23:06:57Z 2020-07-28T02:26:58Z 1 0 0 1515 CDBP01514 Beta-2 adrenergic receptor P07550 ADRB2_HUMAN true false Enzyme Homo_sapiens ADRB2 413 46458.3 7.04 Involved in G-protein coupled receptor protein signaling pathway Beta-adrenergic receptors mediate the catecholamine- induced activation of adenylate cyclase through the action of G proteins. The beta-2-adrenergic receptor binds epinephrine with an approximately 30-fold greater affinity than it does norepinephrine ["None"] ["35-58", "72-95", "107-129", "151-174", "197-220", "275-298", "306-329"] X04827 29373 ADRB2 Chromosome:5 5q31-q32 ADRB2 HGNC:286 true 2020-06-12T23:06:57Z 2020-07-28T02:26:58Z 1 0 0 1516 CDBP01515 Glutamate [NMDA] receptor subunit zeta-1 Q05586 NMDZ1_HUMAN false true Receptor Homo_sapiens GRIN1 938 105371.9 9.2 Involved in ionotropic glutamate receptor activity NMDA receptor subtype of glutamate-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Mediated by glycine. This protein plays a key role in synaptic plasticity, synaptogenesis, excitotoxicity, memory acquisition and learning. It mediates neuronal functions in glutamate neurotransmission. Is involved in the cell surface targeting of NMDA receptors ["1-18"] ["560-580", "637-657", "813-833"] 1PB7 AL929554 123240314 GRIN1 Chromosome:9 9q34.3 GRIN1 HGNC:4584 true 2020-06-12T23:06:57Z 2020-07-28T02:26:59Z 1 0 0 1517 CDBP01516 Protein lin-7 homolog A O14910 LIN7A_HUMAN false false Enzyme Homo_sapiens LIN7A 233 25996.6 9.1 Involved in exocytosis Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may function in localizing synaptic vesicles at synapses where it is recruited by beta-catenin and cadherin. Required to localize Kir2 channels, GABA transporter (SLC6A12) and EGFR/ERBB1, ERBB2, ERBB3 and ERBB4 to the basolateral membrane of epithelial cells ["None"] ["None"] NM_004664.2 4759306 LIN7A Chromosome:1 12q21 true 2020-06-12T23:06:57Z 2020-07-28T02:33:35Z 0 0 0 1518 CDBP01517 A-kinase anchor protein 9 Q99996 AKAP9_HUMAN true false Enzyme Homo_sapiens AKAP9 3911 453664.2 4.65 Cell cycle control, cell division, chromosome partitioning Binds to type II regulatory subunits of protein kinase A. Scaffolding protein that assembles several protein kinases and phosphatases on the centrosome and Golgi apparatus. May be required to maintain the integrity of the Golgi apparatus. Isoform 4 is associated with the N-methyl-D-aspartate receptor and is specifically found in the neuromuscular junction (NMJ) as well as in neuronal synapses, suggesting a role in the organization of postsynaptic specializations ["None"] ["None"] AJ010770 4128008 AKAP9 Chromosome:7 7q21-q22 AKAP9 HGNC:379 true 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1519 CDBP01518 Disks large homolog 4 P78352 DLG4_HUMAN true false Enzyme Homo_sapiens DLG4 724 80494.6 5.71 Involved in protein binding Interacts with the cytoplasmic tail of NMDA receptor subunits and shaker-type potassium channels. Required for synaptic plasticity associated with NMDA receptor signaling. Overexpression or depletion of DLG4 changes the ratio of excitatory to inhibitory synapses in hippocampal neurons. May reduce the amplitude of ACCN3 acid-evoked currents by retaining the channel intracellularly. May regulate the intracellular trafficking of ADR1B ["None"] ["None"] 1JXO AK293835 221039688 DLG4 Chromosome:1 17p13.1 DLG4 HGNC:2903 true 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1520 CDBP01519 Glutamate [NMDA] receptor subunit 3B O60391 NMD3B_HUMAN false true Receptor Homo_sapiens GRIN3B 1043 112991.0 9.5 Involved in ionotropic glutamate receptor activity NMDA receptor subtype of glutamate-gated ion channels with reduced single-channel conductance, low calcium permeability and low voltage-dependent sensitivity to magnesium. Mediated by glycine ["1-22"] ["565-585", "649-669", "831-851"] NM_138690.1 62988346 GRIN3B Chromosome:1 19p13.3 GRIN3B HGNC:16768 true 2020-06-12T23:06:57Z 2020-07-28T02:26:59Z 1 0 0 1521 CDBP01520 Glutamate [NMDA] receptor subunit epsilon-1 Q12879 NMDE1_HUMAN false true Receptor Homo_sapiens GRIN2A 1464 165281.2 7.11 Involved in ionotropic glutamate receptor activity NMDA receptor subtype of glutamate-gated ion channels possesses high calcium permeability and voltage-dependent sensitivity to magnesium. Activation requires binding of agonist to both types of subunits ["1-22"] ["556-576", "634-654", "817-837"] U09002 GRIN2A Chromosome:1 16p13.2 GRIN2A HGNC:4585 true 2020-06-12T23:06:57Z 2020-07-28T02:26:59Z 1 0 0 1522 CDBP01521 Glutamate [NMDA] receptor subunit epsilon-3 Q14957 NMDE3_HUMAN false true Receptor Homo_sapiens GRIN2C 1236 134531.1 8.5 Involved in ionotropic glutamate receptor activity NMDA receptor subtype of glutamate-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Mediated by glycine ["1-19"] ["554-574", "627-647", "815-835"] BC140801 187954965 GRIN2C Chromosome:1 17q25 GRIN2C HGNC:4587 true 2020-06-12T23:06:57Z 2020-07-28T02:26:59Z 1 0 0 1523 CDBP01522 Glutamate [NMDA] receptor subunit epsilon-2 Q13224 NMDE2_HUMAN false true Receptor Homo_sapiens GRIN2B 1484 166365.9 6.92 Involved in ionotropic glutamate receptor activity NMDA receptor subtype of glutamate-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Mediated by glycine ["1-26"] ["558-576", "631-646", "818-837"] 1S11;1S2S;2IPV;5EWJ;5EWL;5EWM BC113618 109730561 GRIN2B Chromosome:1 12p12 GRIN2B HGNC:4586 true NP_000825.2:NM_000834.3;XP_011518930.1-XM_011520628.2;XP_011518931.1-XM_011520629.2;XP_016874708.1-XM_017019219.1 Cell membrane; Cell junction; Synapse; Postsynaptic cell membrane; Late endosome; Lysosome; Cytoplasm; Cytoskeleton 2020-06-12T23:06:57Z 2020-07-28T02:26:59Z 1 0 0 1524 CDBP01523 Glutamate [NMDA] receptor subunit epsilon-4 O15399 NMDE4_HUMAN false true Receptor Homo_sapiens GRIN2D 1336 143750.7 8.41 Involved in ionotropic glutamate receptor activity NMDA receptor subtype of glutamate-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Mediated by glycine ["1-27"] ["584-604", "657-677", "845-865"] NM_000836.2 153946391 GRIN2D Chromosome:1 19q13.1-qter GRIN2D HGNC:4588 true 2020-06-12T23:06:57Z 2020-07-28T02:26:59Z 1 0 0 1525 CDBP01524 Somatostatin P61278 SMS_HUMAN true false Enzyme Homo_sapiens SST 116 12735.4 5.18 Involved in hormone activity Somatostatin inhibits the release of somatotropin ["1-24"] ["None"] AK312177 SST Chromosome:3 3q28 SST HGNC:11329 true 2020-06-12T23:06:57Z 2020-07-28T02:26:59Z 1 0 0 1526 CDBP01525 Adenosine receptor A1 P30542 AA1R_HUMAN true false Enzyme Homo_sapiens ADORA1 326 36511.3 8.75 Involved in G-protein coupled receptor protein signaling pathway Receptor for adenosine. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase ["None"] ["11-33", "47-69", "81-102", "124-146", "177-201", "236-259", "268-292"] S45235 ADORA1 Chromosome:1 1q32.1 ADORA1 HGNC:262 true 2020-06-12T23:06:57Z 2020-07-28T02:26:59Z 1 0 0 1527 CDBP01526 Dipeptidyl peptidase 4 P27487 DPP4_HUMAN true false Enzyme Homo_sapiens DPP4 766 88277.9 5.92 Involved in serine-type endopeptidase activity Cell surface glycoprotein receptor involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Acts as a positive regulator of T-cell coactivation, by binding at least ADA, CAV1, IGF2R, and PTPRC. Its binding to CAV1 and CARD11 induces T-cell proliferation and NF- kappa-B activation in a T-cell receptor/CD3-dependent manner. Its interaction with ADA also regulates lymphocyte-epithelial cell adhesion. In association with FAP is involved in the pericellular proteolysis of the extracellular matrix (ECM), the migration and invasion of endothelial cells into the ECM. May be involved in the promotion of lymphatic endothelial cells adhesion, migration and tube formation. When overexpressed, enhanced cell proliferation, a process inhibited by GPC3. Acts also as a serine exopeptidase with a dipeptidyl peptidase activity that regulates various physiological processes by cleaving peptides in the circulation, including many chemokines, mitogenic growth factors, neuropeptides and peptide hormones. Removes N-terminal dipeptides sequentially from polypeptides having unsubstituted N-termini provided that the penultimate residue is proline ["None"] ["7-28"] 2BGR X60708 35336 DPP4 Chromosome:2 2q24.3 DPP4 HGNC:3009 true 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1528 CDBP01527 Adenosine receptor A2a P29274 AA2AR_HUMAN true false Enzyme Homo_sapiens ADORA2A 412 44706.9 8.05 Involved in G-protein coupled receptor protein signaling pathway Receptor for adenosine. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase ["None"] ["8-32", "43-66", "78-100", "121-143", "174-198", "235-258", "267-290"] AK312946 189066537 ADORA2A Chromosome:2 22q11.23 ADORA2A HGNC:263 true 2020-06-12T23:06:57Z 2020-07-28T02:26:59Z 1 0 0 1529 CDBP01528 Histidine triad nucleotide-binding protein 1 P49773 HINT1_HUMAN false false Enzyme Homo_sapiens HINT1 126 13801.8 6.96 Involved in catalytic activity Hydrolyzes adenosine 5'-monophosphoramidate substrates such as AMP-morpholidate, AMP-N-alanine methyl ester, AMP-alpha- acetyl lysine methyl ester and AMP-NH2 ["None"] ["None"] 1KPF AK026557 10439439 HINT1 Chromosome:5 5q31.2 HINT1 HGNC:4912 true 2020-06-12T23:06:57Z 2020-07-28T02:33:35Z 0 0 0 1530 CDBP01529 Adenosine receptor A3 P33765 AA3R_HUMAN true false Enzyme Homo_sapiens ADORA3 318 36184.2 9.04 Involved in G-protein coupled receptor protein signaling pathway Receptor for adenosine. The activity of this receptor is mediated by G proteins which inhibits adenylyl cyclase. Possible role in reproduction ["None"] ["15-37", "49-72", "85-106", "127-148", "178-198", "232-255", "262-284"] AL390195 13559064 ADORA3 Chromosome:1 1p13.2 ADORA3 HGNC:268 true 2020-06-12T23:06:57Z 2020-07-28T02:26:59Z 1 0 0 1531 CDBP01530 Adenosine receptor A2b P29275 AA2BR_HUMAN true false Enzyme Homo_sapiens ADORA2B 332 36332.7 8.31 Involved in G-protein coupled receptor protein signaling pathway Receptor for adenosine. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase ["None"] ["9-33", "44-67", "79-101", "122-144", "179-203", "236-259", "268-291"] M97759 ADORA2B Chromosome:1 17p12 ADORA2B HGNC:264 true 2020-06-12T23:06:57Z 2020-07-28T02:26:59Z 1 0 0 1532 CDBP01531 Canalicular multispecific organic anion transporter 1 Q92887 MRP2_HUMAN false true Transporter Homo_sapiens ABCC2 1545 174205.6 8.46 Involved in ATP binding Mediates hepatobiliary excretion of numerous organic anions. May function as a cellular cisplatin transporter ["None"] ["28-48", "69-89", "94-114", "127-147", "166-186", "314-334", "361-381", "438-458", "462-482", "545-565", "588-608", "972-992", "1034-1054", "1098-1118", "1120-1140", "1212-1232", "1235-1255"] AJ132244 5107947 ABCC2 Chromosome:1 10q24 ABCC2 HGNC:53 true 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1533 CDBP01532 Hereditary hemochromatosis protein Q30201 HFE_HUMAN false false Enzyme Homo_sapiens HFE 348 40107.7 6.57 Involved in immune response Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin ["1-22"] ["307-330"] 1DE4 NM_000410.3 4504377 HFE Chromosome:6 6p21.3 HFE HGNC:4886 true 2020-06-12T23:06:57Z 2020-07-28T02:33:35Z 0 0 0 1534 CDBP01533 Rho guanine nucleotide exchange factor 1 Q92888 ARHG1_HUMAN true false Enzyme Homo_sapiens ARHGEF1 912 102434.3 5.37 Involved in GTPase activator activity Seems to play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13) subunits. Acts as GTPase-activating protein (GAP) for GNA12 and GNA13, and as guanine nucleotide exchange factor (GEF) for RhoA GTPase. Activated G alpha 13/GNA13 stimulates the RhoGEF activity through interaction with the RGS-like domain. This GEF activity is inhibited by binding to activated GNA12 ["None"] ["None"] 1SHZ NM_004706.3 15011972 ARHGEF1 Chromosome:1 19q13.13 true 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1535 CDBP01534 Phosphatidylinositol transfer protein beta isoform P48739 PIPNB_HUMAN false false Enzyme Homo_sapiens PITPNB 271 31539.9 6.87 Involved in transport Catalyzes the transfer of PtdIns and phosphatidylcholine between membranes ["None"] ["None"] AL031591 6572213 PITPNB Chromosome:2 22q12.1 PITPNB HGNC:9002 true 2020-06-12T23:06:57Z 2020-07-28T02:33:35Z 0 0 0 1536 CDBP01535 Proactivator polypeptide P07602 SAP_HUMAN true false Enzyme Homo_sapiens PSAP 524 58112.1 4.82 Involved in lipid metabolic process Saposin-D is a specific sphingomyelin phosphodiesterase activator (EC 3.1.4.12) ["1-16"] ["None"] 1N69 BC001503 16306656 PSAP Chromosome:1 10q21-q22 PSAP HGNC:9498 true 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1537 CDBP01536 Lipoyl synthase, mitochondrial O43766 LIAS_HUMAN true false Enzyme Homo_sapiens LIAS 372 41910.695 8.591 Involved in catalytic activity Catalyzes the radical-mediated insertion of two sulfur atoms into the C-6 and C-8 positions of the octanoyl moiety bound to the lipoyl domains of lipoate-dependent enzymes, thereby converting the octanoylated domains into lipoylated derivatives (By similarity). AK292238 LIAS 4 4p14 LIAS HGNC:16429 true hsa:11019 NP_006850.2:NM_006859.2;NP_919433.1:NM_194451.1 4Fe-4S clusters . One cluster is coordinated with 3 cysteines and an exchangeable S-adenosyl-L-methionine 2020-06-12T23:06:57Z 2020-07-28T02:27:00Z 0 1 0 1538 CDBP01537 H/ACA ribonucleoprotein complex subunit 4 O60832 DKC1_HUMAN true false Enzyme Homo_sapiens DKC1 514 57673.7 10.02 Involved in RNA processing Required for ribosome biogenesis and telomere maintenance. Probable catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme ["None"] ["None"] AF067008 3873221 DKC1 DKC1 HGNC:2890 true 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1539 CDBP01538 Protein AMBP P02760 AMBP_HUMAN false true Transporter Homo_sapiens AMBP 352 38999.2 6.15 Involved in transporter activity Trypstatin is a trypsin inhibitor ["1-19"] ["None"] 1BIK X04225 32047 AMBP Chromosome:9 9q32-q33 AMBP HGNC:453 true 2020-06-12T23:06:57Z 2020-07-28T02:32:07Z 0 0 0 1540 CDBP01539 Nuclear factor of activated T-cells, cytoplasmic 2 Q13469 NFAC2_HUMAN false false Transcription Factor Homo_sapiens NFATC2 925 100145.0 7.3 Involved in sequence-specific DNA binding transcription factor activity Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2, IL-3, IL-4, TNF-alpha or GM-CSF ["None"] ["None"] 1PZU AL035682 56203092 NFATC2 Chromosome:2 20q13.2 NFATC2 HGNC:7776 true 2020-06-12T23:06:57Z 2020-07-28T02:32:06Z 0 0 1 1541 CDBP01540 Microtubule-associated protein 2 P11137 MAP2_HUMAN true false Enzyme Homo_sapiens MAP2 1827 199524.5 4.54 Involved in negative regulation of microtubule depolymerization The exact function of MAP2 is unknown but MAPs may stabilize the microtubules against depolymerization. They also seem to have a stiffening effect on microtubules ["None"] ["None"] U01828 409875 MAP2 Chromosome:2 2q34-q35 MAP2 HGNC:6839 true 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1542 CDBP01541 Progesterone receptor P06401 PRGR_HUMAN true false Enzyme Homo_sapiens PGR 933 98980.0 6.45 Involved in sequence-specific DNA binding transcription factor activity Isoform A is inactive in stimulating c-Src/MAPK signaling on hormone stimulation ["None"] ["None"] 1SQN X51730 35652 PGR Chromosome:1 11q22-q23 PGR HGNC:8910 true 2020-06-12T23:06:57Z 2020-07-28T02:27:00Z 1 1 1 1543 CDBP01542 Vimentin P08670 VIME_HUMAN true false Enzyme Homo_sapiens VIM 466 53651.2 4.77 Involved in structural molecule activity Vimentins are class-III intermediate filaments found in various non-epithelial cells, especially mesenchymal cells ["None"] ["None"] 1GK4 X56134 37850 VIM Chromosome:1 10p13 VIM HGNC:12692 true 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1544 CDBP01543 NAD(P)H dehydrogenase [quinone] 1 P15559 NQO1_HUMAN true false Enzyme Homo_sapiens NQO1 274 30867.405 8.886 Involved in electron carrier activity The enzyme apparently serves as a quinone reductase in connection with conjugation reactions of hydroquinons involved in detoxification pathways as well as in biosynthetic processes such as the vitamin K-dependent gamma-carboxylation of glutamate residues in prothrombin synthesis. 1D4A;1DXO;1GG5;1H66;1H69;1KBO;1KBQ;1QBG;2F1O;3JSX J03934 NQO1 16 16q22.1 NQO1 HGNC:2874 true hsa:1728 NP_000894.1:NM_000903.2;NP_001020604.1:NM_001025433.1;NP_001020605.1:NM_001025434.1 FAD Homodimer 2020-06-12T23:06:57Z 2020-07-28T02:27:00Z 0 0 0 1545 CDBP01544 Ecto-NOX disulfide-thiol exchanger 2 Q16206 ENOX2_HUMAN false false Enzyme Homo_sapiens ENOX2 610 70081.5 5.78 Involved in nucleotide binding May be involved in cell growth. Probably acts as a terminal oxidase of plasma electron transport from cytosolic NAD(P)H via hydroquinones to acceptors at the cell surface. Hydroquinone oxidase activity alternates with a protein disulfide- thiol interchange/oxidoreductase activity which may control physical membrane displacements associated with vesicle budding or cell enlargement. The activities oscillate with a period length of 22 minutes and play a role in control of the ultradian cellular biological clock ["None"] ["None"] AF207881 ENOX2 ENOX2 HGNC:2259 true 2020-06-12T23:06:57Z 2020-07-28T02:33:35Z 0 0 0 1546 CDBP01545 Vitamin K-dependent gamma-carboxylase P38435 VKGC_HUMAN true false Enzyme Homo_sapiens GGCX 758 87560.065 8.011 Involved in gamma-glutamyl carboxylase activity Mediates the vitamin K-dependent carboxylation of glutamate residues to calcium-binding gamma-carboxyglutamate (Gla) residues with the concomitant conversion of the reduced hydroquinone form of vitamin K to vitamin K epoxide. AC016753 62988953 GGCX 2 2p12 GGCX HGNC:4247 true hsa:2677 HS03897-MONOMER NP_000812.2:NM_000821.5;NP_001135741.1:NM_001142269.2 Monomer. May interact with CALU 2020-06-12T23:06:57Z 2020-07-28T02:27:00Z 0 0 0 1547 CDBP01546 Glutaredoxin-1 P35754 GLRX1_HUMAN true false Enzyme Homo_sapiens GLRX 106 11775.7 8.21 Posttranslational modification, protein turnover, chaperones Has a glutathione-disulfide oxidoreductase activity in the presence of NADPH and glutathione reductase. Reduces low molecular weight disulfides and proteins ["None"] ["None"] 1JHB AF069668 3603310 GLRX Chromosome:5 5q14 true 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1548 CDBP01547 Cytokine receptor common subunit beta P32927 IL3RB_HUMAN true false Enzyme Homo_sapiens CSF2RB 897 97334.9 5.21 Involved in cytokine receptor activity High affinity receptor for interleukin-3, interleukin-5 and granulocyte-macrophage colony-stimulating factor ["1-16"] ["444-460"] 1GH7 M59941 CSF2RB Chromosome:2 22q13.1 CSF2RB HGNC:2436 true 2020-06-12T23:06:57Z 2020-07-28T02:27:00Z 1 0 0 1549 CDBP01548 Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 O43150 ASAP2_HUMAN false false Metal Binding Homo_sapiens ASAP2 1006 111649.6 6.66 Involved in ARF GTPase activator activity Activates the small GTPases ARF1, ARF5 and ARF6. Regulates the formation of post-Golgi vesicles and modulates constitutive secretion. Modulates phagocytosis mediated by Fc gamma receptor and ARF6. Modulates PXN recruitment to focal contacts and cell migration ["None"] ["None"] 1DCQ NM_003887.2 4502249 ASAP2 Chromosome:2 2p25|2p24 ASAP2 HGNC:2721 true 2020-06-12T23:06:57Z 2020-07-28T02:31:57Z 0 1 0 1550 CDBP01549 Beta-1,3-galactosyltransferase 2 O43825 B3GT2_HUMAN true false Enzyme Homo_sapiens B3GALT2 422 49213.1 9.81 Involved in galactosyltransferase activity Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-N- acetylglucosamine (beta-GlcNAc) residue. Can also utilize substrates with a terminal galactose residue, albeit with lower efficiency. Involved in the biosynthesis of the carbohydrate moieties of glycolipids and glycoproteins. Inactive towards substrates with terminal alpha-N-acetylglucosamine (alpha-GlcNAc) or alpha-N-acetylgalactosamine (alpha-GalNAc) residues ["None"] ["25-45"] AF288390 12620190 B3GALT2 Chromosome:1 1q31 B3GALT2 HGNC:917 true 2020-06-12T23:06:57Z 2020-07-28T02:27:00Z 0 0 0 1551 CDBP01550 Exostosin-1 Q16394 EXT1_HUMAN true false Enzyme Homo_sapiens EXT1 746 86254.015 9.036 Involved in transferase activity, transferring hexosyl groups Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. S79639 1168162 EXT1 8 8q24.11 EXT1 HGNC:3512 true hsa:2131 HS00012-MONOMER NP_000118.2:NM_000127.2 Ubiquitous. Forms a homo/hetero-oligomeric complex with EXT2 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1552 CDBP01551 Hyaluronan synthase 1 Q92839 HAS1_HUMAN true false Enzyme Homo_sapiens HAS1 578 64831.425 9.193 Involved in transferase activity, transferring hexosyl groups Plays a role in hyaluronan/hyaluronic acid (HA) synthesis. Also able to catalyze the synthesis of chito-oligosaccharide depending on the substrate. AC018755 9454519 HAS1 19 19q13.4 HAS1 HGNC:4818 true hsa:3036 NP_001514.2:NM_001523.2 Highly expressed in ovary followed by spleen, thymus, prostate, testes and large intestine. Weakly expressed in small intestine. Magnesium 2020-06-12T23:06:57Z 2020-07-28T02:27:01Z 0 0 0 1553 CDBP01552 Exostosin-like 3 O43909 EXTL3_HUMAN true false Enzyme Homo_sapiens EXTL3 919 104748.23 6.509 Involved in glucuronyl-galactosyl-proteoglycan 4-alpha- Probable glycosyltransferase (By similarity). AB007042 2723391 EXTL3 8 8p21 HGNC:3518 true hsa:2137 HS00333-MONOMER NP_001431.1:NM_001440.3 Ubiquitous. 2020-06-12T23:06:57Z 2020-07-28T02:27:01Z 0 1 0 1554 CDBP01553 Exostosin-2 Q93063 EXT2_HUMAN true false Enzyme Homo_sapiens EXT2 718 83569.135 6.409 Involved in transferase activity, transferring hexosyl groups Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. AK312375 189065454 EXT2 11 11p12-p11 EXT2 HGNC:3513 true hsa:2132 HS07726-MONOMER NP_001171554.1:NM_001178083.1;NP_997005.1:NM_207122.1 Ubiquitous. Forms a homo/hetero-oligomeric complex with EXT1. Interacts with GALNT5 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1555 CDBP01554 Exostosin-like 1 Q92935 EXTL1_HUMAN true false Enzyme Homo_sapiens EXTL1 676 74695.785 8.192 Involved in glucuronosyl-N-acetylglucosaminyl-proteogly Probable glycosyltransferase (By similarity). AF083633 4106426 EXTL1 1 1p36.1 HGNC:3515 true hsa:2134 HS08259-MONOMER NP_004446.2:NM_004455.2 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1556 CDBP01555 N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase O43505 B3GN1_HUMAN true false Enzyme Homo_sapiens B3GNT1 415 47118.67 7.199 Involved in N-acetyllactosaminide beta-1,3-N-acetylgluc Can initiate the synthesis or the elongation of the linear poly-N-acetyllactosaminoglycans. AF029893 2745741 B3GNT1 11 11q13.2 B3GNT1 HGNC:15685 true hsa:11041 NP_006867.1:NM_006876.2 In the adult, highly expressed in heart, brain, skeletal muscle and kidney and to a lesser extent in placenta, pancreas, spleen, prostate, testis, ovary, small intestine and colon. Very weak expression in lung, liver, thymus and peripheral blood leukocytes. In fetal highly expressed in brain and kidney and to a lesser extent in lung and liver. 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1557 CDBP01556 Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A Q09328 MGT5A_HUMAN true false Enzyme Homo_sapiens MGAT5 741 84542.02 8.124 Involved in alpha-1,6-mannosyl-glycoprotein 6-beta-N-ac Catalyzes the addition of N-acetylglucosamine in beta 1-6 linkage to the alpha-linked mannose of biantennary N-linked oligosaccharides. It is one of the most important enzymes involved in the regulation of the biosynthesis of glycoprotein oligosaccharides. AF113921 4545222 MGAT5 2 2q21.3 HGNC:7049 true hsa:4249 NP_002401.1:NM_002410.4 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1558 CDBP01557 UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit O15294 OGT1_HUMAN true false Enzyme Homo_sapiens OGT 1046 116923.515 6.693 Involved in binding Catalyzes the transfer of a single N-acetylglucosamine from UDP-GlcNAc to a serine or threonine residue in cytoplasmic and nuclear proteins resulting in their modification with a beta-linked N-acetylglucosamine (O-GlcNAc). Glycosylates a large and diverse number of proteins including histone H2B, AKT1, PFKL, MLL5, MAPT/TAU and HCFC1. Can regulate their cellular processes via cross-talk between glycosylation and phosphorylation or by affecting proteolytic processing. Involved in insulin resistance in muscle and adipocyte cells via glycosylating insulin signaling components and inhibiting the 'Thr-308' phosphorylation of AKT1, enhancing IRS1 phosphorylation and attenuating insulin signaling. Involved in glycolysis regulation by mediating glycosylation of 6-phosphofructokinase PFKL, inhibiting its activity. Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1. As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues. Isoform 2, the mitochondrial isoform (mOGT), is cytotoxic and triggers apoptosis in several cell types including INS1, an insulinoma cell line. 1W3B;3PE3;3PE4;3TAX;4AY5;4AY6;4GYW;4GYY;4GZ3;4GZ5;4GZ6 AJ315767 18250915 OGT X Xq13 OGT HGNC:8127 true hsa:8473 ENSG00000147162-MONOMER NP_858058.1:NM_181672.2;NP_858059.1:NM_181673.2 Highly expressed in pancreas and to a lesser extent in skeletal muscle, heart, brain and placenta. Present in trace amounts in lung and liver. Heterotrimer; consists of one 78 kDa subunit and two 110 kDa subunits dimerized via TPR repeats 6 and 7. Interacts (via TPR repeats 6 and 7) with ATXN10 . Component of the MLL5-L complex, at least composed of MLL5, STK38, PPP1CA, PPP1CB, HCFC1, PPP1CC and ACTB. Component of a THAP1/THAP3-HCFC1-OGT complex. Component of the NSL complex at least composed of MOF/KAT8, KANSL1, KANSL2, KANSL3, MCRS1, PHF20, OGT1/OGT, WDR5 and HCFC1. Interacts directly with HCFC1; the interaction O-glycosylates HCFC1, regulates its proteolytic processing and transcriptional activity and, in turn, stabilizes OGT in the nucleus. Interacts (via TPRs 1-6) with SIN3A; the interaction mediates transcriptional repression in parallel with histone deacetylase 2020-06-12T23:06:57Z 2020-07-28T02:27:01Z 1 0 0 1559 CDBP01558 Hyaluronan synthase 3 O00219 HAS3_HUMAN true false Enzyme Homo_sapiens HAS3 553 62997.73 8.482 Involved in transferase activity, transferring hexosyl groups Plays a role in hyaluronan/hyaluronic acid (HA) synthesis. AF232772 7110558 HAS3 16 16q22.1 HAS3 HGNC:4820 true hsa:3038 NP_001186209.1:NM_001199280.1;NP_005320.2:NM_005329.2;NP_619515.1:NM_138612.2 Magnesium 2020-06-12T23:06:57Z 2020-07-28T02:27:01Z 0 0 1 1560 CDBP01559 Beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase Q09327 MGAT3_HUMAN true false Enzyme Homo_sapiens MGAT3 533 61312.45 8.278 Involved in beta-1,4-mannosylglycoprotein 4-beta-N-acet It is involved in the regulation of the biosynthesis and biological function of glycoprotein oligosaccharides. Catalyzes the addition of N-acetylglucosamine in beta 1-4 linkage to the beta-linked mannose of the trimannosyl core of N-linked sugar chains. It is one of the most important enzymes involved in the regulation of the biosynthesis of glycoprotein oligosaccharides. AL022312 56202888 MGAT3 22 22q13.1 HGNC:7046 true hsa:4248 NP_001091740.1:NM_001098270.1;NP_002400.3:NM_002409.4 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1561 CDBP01560 Angiotensin-converting enzyme P12821 ACE_HUMAN false false Enzyme Homo_sapiens ACE 1306 149713.7 6.36 Involved in metallopeptidase activity Converts angiotensin I to angiotensin II by release of the terminal His-Leu, this results in an increase of the vasoconstrictor activity of angiotensin. Also able to inactivate bradykinin, a potent vasodilator. Has also a glycosidase activity which releases GPI-anchored proteins from the membrane by cleaving the mannose linkage in the GPI moiety ["1-29"] ["1257-1277"] 1UZF J04144 ACE Chromosome:1 17q23.3 ACE HGNC:2707 true 2020-06-12T23:06:57Z 2020-07-28T02:33:36Z 0 0 0 1562 CDBP01561 Heparin cofactor 2 P05546 HEP2_HUMAN true false Enzyme Homo_sapiens SERPIND1 499 57070.2 6.89 Involved in heparin binding Peptides at the N-terminal of HC-II have chemotactic activity for both monocytes and neutrophils ["1-19"] ["None"] 1JMJ AK314200 189054358 SERPIND1 Chromosome:2 22q11.2|22q11.21 true 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1563 CDBP01562 Basement membrane-specific heparan sulfate proteoglycan core protein P98160 PGBM_HUMAN true false Enzyme Homo_sapiens HSPG2 4391 468794.4 6.49 Involved in cell adhesion The LG3 peptide has anti-angiogenic properties that require binding of calcium ions for full activity ["1-21"] ["None"] 1GL4 NM_005529.5 126012571 HSPG2 Chromosome:1 1p36.1-p34 HSPG2 HGNC:5273 true 2020-06-12T23:06:57Z 2020-07-28T02:27:01Z 0 0 0 1564 CDBP01563 CD44 antigen P16070 CD44_HUMAN true false Enzyme Homo_sapiens CD44 742 81537.0 5.0 Involved in binding Receptor for hyaluronic acid (HA). Mediates cell-cell and cell-matrix interactions through its affinity for HA, and possibly also through its affinity for other ligands such as osteopontin, collagens, and matrix metalloproteinases (MMPs). Adhesion with HA plays an important role in cell migration, tumor growth and progression. Also involved in lymphocyte activation, recirculation and homing, and in hematopoiesis. Altered expression or dysfunction causes numerous pathogenic phenotypes. Great protein heterogeneity due to numerous alternative splicing and post-translational modification events ["1-20"] ["650-670"] 1POZ AJ251595 6491739 CD44 Chromosome:1 11p13 CD44 HGNC:1681 true 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1565 CDBP01564 Beta-2-glycoprotein 1 P02749 APOH_HUMAN true false Enzyme Homo_sapiens APOH 345 38297.8 8.03 Involved in eukaryotic cell surface binding Binds to various kinds of negatively charged substances such as heparin, phospholipids, and dextran sulfate. May prevent activation of the intrinsic blood coagulation cascade by binding to phospholipids on the surface of damaged cells ["1-19"] ["None"] 1C1Z X58100 28810 APOH Chromosome:1 17q23-qter APOH HGNC:616 true 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1566 CDBP01565 Ganglioside GM2 activator P17900 SAP3_HUMAN true false Enzyme Homo_sapiens GM2A 193 20838.1 4.96 Involved in sphingolipid activator protein activity Binds gangliosides and stimulates ganglioside GM2 degradation. It stimulates only the breakdown of ganglioside GM2 and glycolipid GA2 by beta-hexosaminidase A. It extracts single GM2 molecules from membranes and presents them in soluble form to beta-hexosaminidase A for cleavage of N-acetyl-D-galactosamine and conversion to GM3 ["1-23"] ["None"] 1PUB AF124719 4587479 GM2A Chromosome:5 5q33.1 GM2A HGNC:4367 true 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1567 CDBP01566 Protein arginine N-methyltransferase 5 O14744 ANM5_HUMAN true false Enzyme Homo_sapiens PRMT5 637 71319.755 6.454 Involved in histone-arginine N-methyltransferase activity Arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and symmetrical dimethylarginine (sDMA), with a preference for the formation of MMA. Specifically mediates the symmetrical dimethylation of arginine residues in the small nuclear ribonucleoproteins Sm D1 (SNRPD1) and Sm D3 (SNRPD3); such methylation being required for the assembly and biogenesis of snRNP core particles. Methylates SUPT5H. Mono- and dimethylates arginine residues of myelin basic protein (MBP) in vitro. Plays a role in the assembly of snRNP core particles. May play a role in cytokine-activated transduction pathways. Negatively regulates cyclin E1 promoter activity and cellular proliferation. May regulate the SUPT5H transcriptional elongation properties. May be part of a pathway that is connected to a chloride current, possibly through cytoskeletal rearrangement. Methylates histone H2A and H4 'Arg-3' during germ cell development. Methylates histone H3 'Arg-8', which may repress transcription. Methylates the Piwi proteins (PIWIL1, PIWIL2 and PIWIL4), methylation of Piwi proteins being required for the interaction with Tudor domain-containing proteins and subsequent localization to the meiotic nuage. Methylates RPS10. Attenuates EGF signaling through the MAPK1/MAPK3 pathway acting at 2 levels. First, monomethylates EGFR; this enhances EGFR 'Tyr-1197' phosphorylation and PTPN6 recruitment, eventually leading to reduced SOS1 phosphorylation. Second, methylates RAF1 and probably BRAF, hence destabilizing these 2 signaling proteins and reducing their catalytic activity. Required for induction of E-selectin and VCAM-1, on the endothelial cells surface at sites of inflammation. Methylates HOXA9. Methylates and regulates SRGAP2 which is involved in cell migration and differentiation. 4GQB AB451246 197692193 PRMT5 14 14q11.2 PRMT5 HGNC:10894 true hsa:10419 NP_001034708.1:NM_001039619.1;NP_006100.2:NM_006109.3 Ubiquitous. Forms, at least, homodimers and homotetramers. Interacts with PRDM1 . Component of the methylosome, a 20S complex containing at least pICLn, PRMT1/SKB1 and MEP50. Component of a high molecular weight E2F-pocket protein complex, CERC (cyclin E1 repressor complex). Also interacts with Sm proteins, JAK2, SSTR1 and SUPT5H. Associates with SWI/SNF remodeling complexes containing SMARCA2 and SMARCA4. Interacts with LSM11, PRMT7 and SNRPD3. Interacts with COPRS; promoting its recruitment on histone H4. Interacts with RPS10. Interacts with EGFR; methylates EGFR and stimulates EGFR-mediated ERK activation. Interacts with BRAF and with active RAF1. Interacts with HOXA9. Interacts with SRGAP2. Found in a complex with COPRS, RUNX1 AND CBFB. Interacts with CHTOP; the interaction symmetrically methylates CHTOP, but seems to require the presence of PRMT1 (By similarity) 2020-06-12T23:06:57Z 2020-07-28T02:27:01Z 0 0 1 1568 CDBP01567 Vasopressin V1a receptor P37288 V1AR_HUMAN false false Receptor Homo_sapiens AVPR1A 418 46799.1 9.67 Involved in G-protein coupled receptor protein signaling pathway Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate a phosphatidyl- inositol-calcium second messenger system. Has been involved in social behaviors, including affiliation and attachment ["None"] ["53-76", "89-110", "126-147", "169-190", "219-239", "294-313", "332-351"] 1YTV L25615 AVPR1A Chromosome:1 12q14-q15 AVPR1A HGNC:895 true 2020-06-12T23:06:57Z 2020-07-28T02:27:01Z 1 0 0 1569 CDBP01568 Antithrombin-III P01008 ANT3_HUMAN true false Enzyme Homo_sapiens SERPINC1 464 52601.9 6.68 Involved in serine-type endopeptidase inhibitor activity Most important serine protease inhibitor in plasma that regulates the blood coagulation cascade. AT-III inhibits thrombin as well as factors IXa, Xa and XIa. Its inhibitory activity is greatly enhanced in the presence of heparin ["1-32"] ["None"] 1JVQ AF130100 11493504 SERPINC1 Chromosome:1 1q23-q25.1 SERPINC1 HGNC:775 true 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1570 CDBP01569 Vasopressin V2 receptor P30518 V2R_HUMAN true false Enzyme Homo_sapiens AVPR2 371 40278.6 9.41 Involved in G-protein coupled receptor protein signaling pathway Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase ["None"] ["39-63", "78-98", "114-135", "160-180", "201-220", "272-293", "309-328"] Z11687 28418 AVPR2 AVPR2 HGNC:897 true 2020-06-12T23:06:57Z 2020-07-28T02:27:02Z 1 0 0 1571 CDBP01570 Coagulation factor VIII P00451 FA8_HUMAN false false Metal Binding Homo_sapiens F8 2351 267007.4 7.37 Involved in cell adhesion Factor VIII, along with calcium and phospholipid, acts as a cofactor for factor IXa when it converts factor X to the activated form, factor Xa ["1-19"] ["None"] M14113 F8 F8 HGNC:3546 true 2020-06-12T23:06:57Z 2020-07-28T02:31:57Z 0 1 0 1572 CDBP01571 Coagulation factor IX P00740 FA9_HUMAN false false Metal Binding Homo_sapiens F9 461 51778.1 5.16 Involved in calcium ion binding Factor IX is a vitamin K-dependent plasma protein that participates in the intrinsic pathway of blood coagulation by converting factor X to its active form in the presence of Ca(2+) ions, phospholipids, and factor VIIIa ["1-28"] ["None"] 1RFN AF536327 22385321 F9 F9 HGNC:3551 true 2020-06-12T23:06:57Z 2020-07-28T02:31:57Z 0 1 0 1573 CDBP01572 Protein NDRG1 Q92597 NDRG1_HUMAN false false Enzyme Homo_sapiens NDRG1 394 42835.2 5.67 Involved in protein binding May have a growth inhibitory role ["None"] ["None"] AF004162 3046386 NDRG1 Chromosome:8 8q24.3 true 2020-06-12T23:06:57Z 2020-07-28T02:33:36Z 0 0 0 1574 CDBP01573 Histone-lysine N-methyltransferase SETD1A O15047 SET1A_HUMAN true false Enzyme Homo_sapiens SETD1A 1707 186032.16 5.141 Involved in nucleotide binding Histone methyltransferase that specifically methylates 'Lys-4' of histone H3, when part of the SET1 histone methyltransferase (HMT) complex, but not if the neighboring 'Lys-9' residue is already methylated. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. The non-overalpping localization with SETD1B suggests that SETD1A and SETD1B make non-redundant contributions to the epigenetic control of chromatin structure and gene expression. 3S8S;3UVN;4EWR NM_014712.1 55741677 SETD1A 16 16p11.2 SETD1A HGNC:29010 true hsa:9739 NP_055527.1:NM_014712.1 Component of the SET1 complex, at least composed of the catalytic subunit (SETD1A or SETD1B), WDR5, WDR82, RBBP5, ASH2L/ASH2, CXXC1/CFP1, HCFC1 and DPY30. Interacts with HCFC1. Interacts with ASH2/ASH2L, CXXC1/CFP1, WDR5 and RBBP5. Interacts (via the RRM domain) with WDR82. Interacts (via the RRM domain) with hyperphosphorylated C-terminal domain (CTD) of RNA polymerase II large subunit (POLR2A) only in the presence of WDR82. Binds specifically to CTD heptad repeats phosphorylated on 'Ser-5' of each heptad 2020-06-12T23:06:57Z 2020-07-28T02:27:02Z 0 0 1 1575 CDBP01574 Transcobalamin-2 P20062 TCO2_HUMAN false true Transporter Homo_sapiens TCN2 427 47534.5 7.01 Involved in cobalamin binding Primary vitamin B12-binding and transport protein. Delivers cobalamin to cells ["1-18"] ["None"] M60396 339196 TCN2 Chromosome:2 22q12.2 TCN2 HGNC:11653 true 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1576 CDBP01575 Ubiquinone biosynthesis protein COQ7 homolog Q99807 COQ7_HUMAN false false Metal Binding Homo_sapiens COQ7 217 Involved in oxidoreductase activity Involved in lifespan determination in ubiquinone-independent manner. Involved in ubiquinone biosynthesis. Potential central metabolic regulator (By similarity). NM_016138.4 25453484 COQ7 COQ7 HGNC:2244 true hsa:10229 ENSG00000167186-MONOMER NP_001177912.1:NM_001190983.1;NP_057222.2:NM_016138.4 Expressed dominantly in heart and skeletal muscle. iron ions 2020-06-12T23:06:57Z 2020-07-28T02:31:57Z 0 1 0 1577 CDBP01576 D(2) dopamine receptor P14416 DRD2_HUMAN true false Enzyme Homo_sapiens DRD2 443 50618.9 9.85 Involved in G-protein coupled receptor protein signaling pathway This is one of the five types (D1 to D5) of receptors for dopamine. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase ["None"] ["38-60", "72-97", "109-130", "152-174", "187-210", "374-397", "406-429"] M30625 181432 DRD2 Chromosome:1 11q23 DRD2 HGNC:3023 true 2020-06-12T23:06:57Z 2020-07-28T02:27:02Z 1 0 0 1578 CDBP01577 Calcium-activated potassium channel subunit alpha-1 Q12791 KCMA1_HUMAN false true Transporter Homo_sapiens KCNMA1 1236 137558.1 7.07 Involved in ion channel activity Potassium channel activated by both membrane depolarization or increase in cytosolic Ca(2+) that mediates export of K(+). It is also activated by the concentration of cytosolic Mg(2+). Its activation dampens the excitatory events that elevate the cytosolic Ca(2+) concentration and/or depolarize the cell membrane. It therefore contributes to repolarization of the membrane potential. Plays a key role in controlling excitability in a number of systems, such as regulation of the contraction of smooth muscle, the tuning of hair cells in the cochlea, regulation of transmitter release, and innate immunity. In smooth muscles, its activation by high level of Ca(2+), caused by ryanodine receptors in the sarcoplasmic reticulum, regulates the membrane potential. In cochlea cells, its number and kinetic properties partly determine the characteristic frequency of each hair cell and thereby helps to establish a tonotopic map. Kinetics of KCNMA1 channels are determined by alternative splicing, phosphorylation status and its combination with modulating beta subunits. Highly sensitive to both iberiotoxin (IbTx) and charybdotoxin (CTX) ["None"] ["87-107", "179-199", "215-235", "240-260", "265-285", "301-321", "368-388"] NM_001161352.1 238624130 KCNMA1 Chromosome:1 10q22.3 KCNMA1 HGNC:6284 true 2020-06-12T23:06:57Z 2020-07-28T02:32:07Z 0 0 0 1579 CDBP01578 Gap junction alpha-1 protein P17302 CXA1_HUMAN true true Enzyme Homo_sapiens GJA1 382 43008.0 8.98 Involved in cell communication One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. May play a critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph ["None"] ["14-36", "77-99", "155-177", "209-231"] 1R5S X52947 29917 GJA1 Chromosome:6 6q21-q23.2 GJA1 HGNC:4274 true 2020-06-12T23:06:57Z 2020-07-28T02:27:02Z 0 0 0 1580 CDBP01579 Perilipin-3 O60664 PLIN3_HUMAN true false Enzyme Homo_sapiens PLIN3 434 47046.6 5.11 Involved in protein binding Required for the transport of mannose 6-phosphate receptors (MPR) from endosomes to the trans-Golgi network ["None"] ["None"] NM_005817.4 255958282 PLIN3 Chromosome:1 19p13.3 true 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1581 CDBP01580 Cation-dependent mannose-6-phosphate receptor P20645 MPRD_HUMAN true true Enzyme Homo_sapiens M6PR 277 30993.1 5.64 Involved in protein binding Transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes. Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6- phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelyosomal compartment where the low pH mediates the dissociation of the complex ["1-26"] ["186-210"] M16985 307147 M6PR Chromosome:1 12p13 M6PR HGNC:6752 true 2020-06-12T23:06:57Z 2020-07-28T02:27:02Z 0 0 0 1582 CDBP01581 Cation-independent mannose-6-phosphate receptor P11717 MPRI_HUMAN true true Enzyme Homo_sapiens IGF2R 2491 274273.3 5.71 Involved in transporter activity Transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes. Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6- phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelyosomal compartment where the low pH mediates the dissociation of the complex. This receptor also binds IGF2. Acts as a positive regulator of T-cell coactivation, by binding DPP4 ["1-40"] ["2305-2327"] Y00285 33055 IGF2R Chromosome:6 6q26 IGF2R HGNC:5467 true 2020-06-12T23:06:57Z 2020-07-28T02:27:02Z 0 0 0 1583 CDBP01582 Elastin P15502 ELN_HUMAN false false Enzyme Homo_sapiens ELN 786 68468.4 11.04 Involved in extracellular matrix structural constituent Major structural protein of tissues such as aorta and nuchal ligament, which must expand rapidly and recover completely. Molecular determinant of the late arterial morphogenesis, stabilizing arterial structure by regulating proliferation and organization of vascular smooth muscle ["1-26"] ["None"] NM_000501 126352440 ELN Chromosome:7 7q11.23 ELN HGNC:3327 true 2020-06-12T23:06:57Z 2020-07-28T02:33:36Z 0 0 0 1584 CDBP01583 Collagen alpha-1(I) chain P02452 CO1A1_HUMAN false false Enzyme Homo_sapiens COL1A1 1464 138941.1 5.47 Involved in extracellular matrix structural constituent Type I collagen is a member of group I collagen (fibrillar forming collagen) ["1-22"] ["None"] Z74615 1418928 COL1A1 Chromosome:1 17q21.33 COL1A1 HGNC:2197 true 2020-06-12T23:06:57Z 2020-07-28T02:33:36Z 0 0 0 1585 CDBP01584 Collagen alpha-2(I) chain P08123 CO1A2_HUMAN false false Enzyme Homo_sapiens COL1A2 1366 129313.6 9.36 Involved in extracellular matrix structural constituent Type I collagen is a member of group I collagen (fibrillar forming collagen) ["1-24"] ["None"] J03464 179596 COL1A2 Chromosome:7 7q22.1 COL1A2 HGNC:2198 true 2020-06-12T23:06:57Z 2020-07-28T02:33:36Z 0 0 0 1586 CDBP01585 Cytochrome b561 domain-containing protein 2 O14569 C56D2_HUMAN false false Enzyme Homo_sapiens CYB561D2 222 23973.4 10.31 Involved in metal ion binding ["None"] ["18-38", "47-67", "86-106", "123-143", "163-183", "187-207"] AC002481 2340094 CYB561D2 Chromosome:3 3p21.3 CYB561D2 HGNC:30253 true 2020-06-12T23:06:57Z 2020-07-28T02:33:36Z 0 0 0 1587 CDBP01586 Cytochrome b561 P49447 CY561_HUMAN false false Enzyme Homo_sapiens CYB561 251 27559.0 8.74 Involved in cytochrome-b5 reductase activity Secretory vesicle-specific electron transport protein ["None"] ["17-37", "52-72", "86-106", "125-145", "159-179", "199-219"] AK316606 189067588 CYB561 Chromosome:1 17q23.3 true 2020-06-12T23:06:57Z 2020-07-28T02:33:36Z 0 0 0 1588 CDBP01587 Cytochrome c P99999 CYC_HUMAN false false Metal Binding Homo_sapiens CYCS 105 11748.7 10.16 Involved in iron ion binding Plays a role in apoptosis. Suppression of the anti- apoptotic members or activation of the pro-apoptotic members of the Bcl-2 family leads to altered mitochondrial membrane permeability resulting in release of cytochrome c into the cytosol. Binding of cytochrome c to Apaf-1 triggers the activation of caspase-9, which then accelerates apoptosis by activating other caspases ["None"] ["None"] 1J3S BT006946 CYCS Chromosome:7 7p15.3 CYCS HGNC:19986 true 2020-06-12T23:06:57Z 2020-07-28T02:31:57Z 0 1 0 1589 CDBP01588 Cytochrome b-245 heavy chain P04839 CY24B_HUMAN false false Metal Binding Homo_sapiens CYBB 570 65335.4 8.76 Involved in oxidoreductase activity Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. It is the terminal component of a respiratory chain that transfers single electrons from cytoplasmic NADPH across the plasma membrane to molecular oxygen on the exterior. Also functions as a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes. It participates in the regulation of cellular pH and is blocked by zinc ["None"] ["9-29", "49-69", "103-123", "170-190", "201-221", "262-282"] NM_000397.3 6996021 CYBB CYBB HGNC:2578 true 2020-06-12T23:06:57Z 2020-07-28T02:31:57Z 0 1 0 1590 CDBP01589 Cytochrome c-type heme lyase P53701 CCHL_HUMAN true false Enzyme Homo_sapiens HCCS 268 30601.335 6.682 Involved in holocytochrome-c synthase activity Links covalently the heme group to the apoprotein of cytochrome c (By similarity). AF053015 3582744 HCCS X Xp22.3 HCCS HGNC:4837 true hsa:3052 NP_001116080.1:NM_001122608.2;NP_001165462.1:NM_001171991.2;NP_005324.3:NM_005333.4 2020-06-12T23:06:57Z 2020-07-28T02:27:02Z 0 1 0 1591 CDBP01590 Beta-1-syntrophin Q13884 SNTB1_HUMAN false false Enzyme Homo_sapiens SNTB1 538 58060.6 8.91 Involved in actin binding Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex ["None"] ["None"] NM_021021.3 11321640 SNTB1 Chromosome:8 8q23-q24 true 2020-06-12T23:06:57Z 2020-07-28T02:33:36Z 0 0 0 1592 CDBP01591 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 P59768 GBG2_HUMAN false false Receptor Homo_sapiens GNG2 71 7850.0 8.22 Involved in signal transducer activity Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction ["None"] ["None"] 1GP2 AF493870 20147633 GNG2 Chromosome:1 14q21 GNG2 HGNC:4404 true 2020-06-12T23:06:57Z 2020-07-28T02:32:16Z 1 0 0 1593 CDBP01592 Myelin basic protein P02686 MBP_HUMAN true false Enzyme Homo_sapiens MBP 304 33116.9 10.46 Involved in structural constituent of myelin sheath The classic group of MBP isoforms (isoform 4-isoform 14) are with PLP the most abundant protein components of the myelin membrane in the CNS. They have a role in both its formation and stabilization. The smaller isoforms might have an important role in remyelination of denuded axons in multiple sclerosis. The non- classic group of MBP isoforms (isoform 1-isoform 3/Golli-MBPs) may preferentially have a role in the early developing brain long before myelination, maybe as components of transcriptional complexes, and may also be involved in signaling pathways in T- cells and neural cells. Differential splicing events combined with optional post-translational modifications give a wide spectrum of isomers, with each of them potentially having a specialized function. Induces T-cell proliferation ["None"] ["None"] 1FV1 NM_001025101.1 68509940 MBP Chromosome:1 18q23 MBP HGNC:6925 true 2020-06-12T23:06:57Z 2020-06-12T23:06:57Z 0 0 0 1594 CDBP01593 GTP-binding nuclear protein Ran P62826 RAN_HUMAN false false Enzyme Homo_sapiens RAN 216 24423.0 7.59 Involved in GTPase activity Enhances AR-mediated transactivation. Transactivation decreases as the poly-Gln length within AR increases ["None"] ["None"] 1IBR M31469 RAN Chromosome:1 12q24.3 RAN HGNC:9846 true 2020-06-12T23:06:57Z 2020-07-28T02:33:36Z 0 0 0 1595 CDBP01594 Tropomyosin alpha-4 chain P67936 TPM4_HUMAN false false Enzyme Homo_sapiens TPM4 248 28521.5 4.36 Cell cycle control, cell division, chromosome partitioning Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments. Binds calcium ["None"] ["None"] NM_003290.2 4507651 TPM4 Chromosome:1 19p13.1 TPM4 HGNC:12013 true 2020-06-12T23:06:57Z 2020-07-28T02:33:36Z 0 0 0 1596 CDBP01595 Xaa-Pro dipeptidase P12955 PEPD_HUMAN true false Enzyme Homo_sapiens PEPD 493 54547.8 5.9 Involved in cellular process Splits dipeptides with a prolyl or hydroxyprolyl residue in the C-terminal position. Plays an important role in collagen metabolism because the high level of iminoacids in collagen ["None"] ["None"] BC004305 13279182 PEPD Chromosome:1 19q13.11 PEPD HGNC:8840 true 2020-06-12T23:06:58Z 2020-07-28T02:27:03Z 0 1 0 1597 CDBP01596 Serine/threonine-protein phosphatase PP1-beta catalytic subunit P62140 PP1B_HUMAN true false Enzyme Homo_sapiens PPP1CB 327 37186.45 6.183 Involved in hydrolase activity Protein phosphatase that associates with over 200 regulatory proteins to form highly specific holoenzymes which dephosphorylate hundreds of biological targets. Protein phosphatase (PP1) is essential for cell division, it participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Involved in regulation of ionic conductances and long-term synaptic plasticity. Component of the PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase. X80910 531476 PPP1CB 2 2p23 PPP1CB HGNC:9282 true hsa:5500 NP_002700.1:NM_002709.2;NP_996759.1:NM_206876.1 iron ion;manganese ion PP1 comprises a catalytic subunit, PPP1CA, PPP1CB or PPP1CC, which is folded into its native form by inhibitor 2 and glycogen synthetase kinase 3, and then complexed to one or several targeting or regulatory subunits. The targeting or regulatory subunits determine the substrate specificity of PP1. PPP1R12A, PPP1R12B and PPP1R12C mediate binding to myosin. PPP1R3A (in skeletal muscle), PPP1R3B (in liver), PPP1R3C, PPP1R3D and PPP1R3F (in brain) mediate binding to glycogen. Part of a complex containing PPP1R15B, PP1 and NCK1/2 . Component of the MLL5-L complex, at least composed of MLL5, STK38, PPP1CA, PPP1CB, PPP1CC, HCFC1, ACTB and OGT. Interacts with PPP1R7 and PPP1R12C. PPP1R15A and PPP1R15B mediate binding to EIF2S1. Interacts with PPP1R16B. Component of the PTW/PP1 phosphatase complex, composed of PPP1R10/PNUTS, TOX4, WDR82, and PPP1CA or PPP1CB or PPP1CC. Interacts with PPP1R8. Interacts with TRIM28; the interaction is weak. Interacts with PPP1R12A and NUAK1; the interaction is direct 2020-06-12T23:06:58Z 2020-07-28T02:27:03Z 1 1 0 1598 CDBP01597 Calmodulin P62158 CALM_HUMAN false false Metal Binding Homo_sapiens CALM1 149 16837.5 3.84 Involved in calcium ion binding Calmodulin mediates the control of a large number of enzymes and other proteins by Ca(2+). Among the enzymes to be stimulated by the calmodulin-Ca(2+) complex are a number of protein kinases and phosphatases. Together with CEP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis ["None"] ["None"] 1IQ5 J04046 179888 CALM1 Chromosome:1 14q24-q31 CALM1 HGNC:1442 true 2020-06-12T23:06:58Z 2020-07-28T02:31:57Z 0 1 0 1599 CDBP01598 Ras-related C3 botulinum toxin substrate 1 P63000 RAC1_HUMAN false false Enzyme Homo_sapiens RAC1 192 21449.9 8.65 Involved in GTP binding Isoform B has an accelerated GEF-independent GDP/GTP exchange and an impaired GTP hydrolysis, which is restored partially by GTPase-activating proteins. It is able to bind to the GTPase-binding domain of PAK but not full-length PAK in a GTP- dependent manner, suggesting that the insertion does not completely abolish effector interaction ["None"] ["None"] 1I4L M29870 RAC1 Chromosome:7 7p22 RAC1 HGNC:9801 true 2020-06-12T23:06:58Z 2020-07-28T02:33:36Z 0 0 0 1600 CDBP01599 Rap1 GTPase-GDP dissociation stimulator 1 P52306 GDS1_HUMAN true false Enzyme Homo_sapiens RAP1GDS1 607 66316.2 4.97 Involved in binding Stimulates GDP/GTP exchange reaction of a group of small GTP-binding proteins (G proteins) including Rap1a/Rap1b, RhoA, RhoB and KRas, by stimulating the dissociation of GDP from and the subsequent binding of GTP to each small G protein ["None"] ["None"] NM_001100427.1 155030196 RAP1GDS1 Chromosome:4 4q23-q25 RAP1GDS1 HGNC:9859 true 2020-06-12T23:06:58Z 2020-07-28T02:27:03Z 0 0 0 1601 CDBP01600 Rho GDP-dissociation inhibitor 3 Q99819 GDIR3_HUMAN false false Enzyme Homo_sapiens ARHGDIG 225 25097.8 5.37 Involved in Rho GDP-dissociation inhibitor activity Inhibits GDP/GTP exchange reaction of RhoB. Interacts specifically with the GDP- and GTP-bound forms of post- translationally processed Rhob and Rhog proteins, both of which show a growth-regulated expression in mammalian cells. Stimulates the release of the GDP-bound but not the GTP-bound RhoB protein. Also inhibits the GDP/GTP exchange of RhoB but shows less ability to inhibit the dissociation of prebound GTP ["None"] ["None"] AB127078 82941188 ARHGDIG Chromosome:1 16p13.3 ARHGDIG HGNC:680 true 2020-06-12T23:06:58Z 2020-07-28T02:33:36Z 0 0 0 1602 CDBP01601 Guanine nucleotide-binding protein G(s) subunit alpha isoforms short P63092 GNAS2_HUMAN true false Enzyme Homo_sapiens GNAS 394 45664.2 5.56 Involved in signal transducer activity Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. The G(s) protein is involved in hormonal regulation of adenylate cyclase:it activates the cyclase in response to beta-adrenergic stimuli ["None"] ["None"] 1U0H X04408 31915 GNAS Chromosome:2 20q13.3 GNAS HGNC:4392 true 2020-06-12T23:06:58Z 2020-07-28T02:27:03Z 1 0 0 1603 CDBP01602 Rab GDP dissociation inhibitor alpha P31150 GDIA_HUMAN false false Enzyme Homo_sapiens GDI1 447 50582.3 4.75 Involved in regulation of GTPase activity Regulates the GDP/GTP exchange reaction of most Rab proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them ["None"] ["None"] 1GND X79353 695585 GDI1 GDI1 HGNC:4226 true 2020-06-12T23:06:58Z 2020-07-28T02:33:36Z 0 0 0 1604 CDBP01603 Proto-oncogene DBL P10911 MCF2_HUMAN false false Enzyme Homo_sapiens MCF2 925 107672.4 5.87 Involved in protein binding Guanine nucleotide exchange factor (GEF) that modulates the Rho family of GTPases. Promotes the conversion of some member of the Rho family GTPase from the GDP-bound to the GTP-bound form. Isoform 1 exhibits no activity toward RHOA, RAC1 or CDC42. Isoform 2 exhibits decreased GEF activity toward CDC42. Isoform 3 exhibits a weak but significant activity toward RAC1 and CDC42. Isoform 4 exhibits significant activity toward RHOA and CDC42. The truncated DBL oncogene is active toward RHOA, RAC1 and CDC42 ["None"] ["None"] NM_005369.4 153791325 MCF2 true 2020-06-12T23:06:58Z 2020-07-28T02:33:36Z 0 0 0 1605 CDBP01604 Cell division control protein 42 homolog P60953 CDC42_HUMAN false false Enzyme Homo_sapiens CDC42 191 21310.4 5.83 Involved in GTP binding Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses. Involved in epithelial cell polarization processes. Causes the formation of thin, actin-rich surface projections called filopodia ["None"] ["None"] 1GRN M35543 182857 CDC42 Chromosome:1 1p36.1 CDC42 HGNC:1736 true 2020-06-12T23:06:58Z 2020-07-28T02:33:36Z 0 0 0 1606 CDBP01605 Rab GDP dissociation inhibitor beta P50395 GDIB_HUMAN false false Enzyme Homo_sapiens GDI2 445 50662.8 6.39 Involved in regulation of GTPase activity Regulates the GDP/GTP exchange reaction of most Rab proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them ["None"] ["None"] NM_001494.3 6598323 GDI2 Chromosome:1 10p15 GDI2 HGNC:4227 true 2020-06-12T23:06:58Z 2020-07-28T02:33:36Z 0 0 0 1607 CDBP01606 Rho GDP-dissociation inhibitor 1 P52565 GDIR1_HUMAN false false Enzyme Homo_sapiens ARHGDIA 204 23206.9 4.74 Involved in GTPase activator activity Regulates the GDP/GTP exchange reaction of the Rho proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them ["None"] ["None"] 1HH4 AF498926 20379028 ARHGDIA Chromosome:1 17q25.3 true 2020-06-12T23:06:58Z 2020-07-28T02:33:36Z 0 0 0 1608 CDBP01607 Rho GDP-dissociation inhibitor 2 P52566 GDIR2_HUMAN false false Enzyme Homo_sapiens ARHGDIB 201 22987.9 4.84 Involved in GTPase activator activity Regulates the GDP/GTP exchange reaction of the Rho proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them ["None"] ["None"] 1DS6 AB451315 197692331 ARHGDIB Chromosome:1 12p12.3 true 2020-06-12T23:06:58Z 2020-07-28T02:33:36Z 0 0 0 1609 CDBP01608 Ras-related C3 botulinum toxin substrate 2 P15153 RAC2_HUMAN false false Enzyme Homo_sapiens RAC2 192 21428.6 7.7 Involved in GTP binding Plasma membrane-associated small GTPase which cycles between an active GTP-bound and inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses, such as secretory processes, phagocytose of apoptotic cells and epithelial cell polarization. Augments the production of reactive oxygen species (ROS) by NADPH oxidase ["None"] ["None"] 1DS6 M29871 RAC2 Chromosome:2 22q13.1 RAC2 HGNC:9802 true 2020-06-12T23:06:58Z 2020-07-28T02:33:36Z 0 0 0 1610 CDBP01609 Bifunctional epoxide hydrolase 2 P34913 HYES_HUMAN true false Enzyme Homo_sapiens EPHX2 555 62615.22 6.281 Involved in catalytic activity Bifunctional enzyme. The C-terminal domain has epoxide hydrolase activity and acts on epoxides (alkene oxides, oxiranes) and arene oxides. Plays a role in xenobiotic metabolism by degrading potentially toxic epoxides. Also determines steady-state levels of physiological mediators. The N-terminal domain has lipid phosphatase activity, with the highest activity towards threo-9,10-phosphonooxy-hydroxy-octadecanoic acid, followed by erythro-9,10-phosphonooxy-hydroxy-octadecanoic acid, 12-phosphonooxy-octadec-9Z-enoic acid, 12-phosphonooxy-octadec-9E-enoic acid, and p-nitrophenyl phospate. 1S8O;1VJ5;1ZD2;1ZD3;1ZD4;1ZD5;3ANS;3ANT;3I1Y;3I28;3KOO;3OTQ;3PDC;4HAI AF233334 10197680 EPHX2 8 8p21 EPHX2 HGNC:3402 true hsa:2053 NP_001970.2:NM_001979.5 Magnesium Homodimer 2020-06-12T23:06:58Z 2020-07-28T02:27:03Z 0 0 0 1611 CDBP01610 Epoxide hydrolase 1 P07099 HYEP_HUMAN true false Enzyme Homo_sapiens EPHX1 455 52948.48 7.256 Involved in catalytic activity Biotransformation enzyme that catalyzes the hydrolysis of arene and aliphatic epoxides to less reactive and more water soluble dihydrodiols by the trans addition of water. J03518 EPHX1 1 1q42.1 EPHX1 HGNC:3401 true hsa:2052 NP_000111.1:NM_000120.3;NP_001129490.1:NM_001136018.2 Found in liver. 2020-06-12T23:06:58Z 2020-06-12T23:06:58Z 0 0 0 1612 CDBP01611 Na(+)/H(+) exchange regulatory cofactor NHE-RF1 O14745 NHRF1_HUMAN false false Enzyme Homo_sapiens SLC9A3R1 358 38868.1 5.52 Posttranslational modification, protein turnover, chaperones Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for recycling of internalized ADRB2. Was first known to play a role in the regulation of the activity and subcellular location of SLC9A3. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3. May enhance Wnt signaling. May participate in HTR4 targeting to microvilli. Interacts with MCC ["None"] ["None"] 1G9O AF015926 3220019 SLC9A3R1 Chromosome:1 17q25.1 true 2020-06-12T23:06:58Z 2020-07-28T02:33:37Z 0 0 0 1613 CDBP01612 Glucosylceramidase P04062 GLCM_HUMAN true false Enzyme Homo_sapiens GBA 536 59715.745 7.601 Involved in catalytic activity 1OGS;1Y7V;2F61;2J25;2NSX;2NT0;2NT1;2V3D;2V3E;2V3F;2VT0;2WCG;2WKL;2XWD;2XWE;3GXD;3GXF;3GXI;3GXM;3KE0;3KEH;3RIK;3RIL AF023268 2564914 GBA 1 1q21 GBA HGNC:4177 true hsa:2629 NP_000148.2:NM_000157.3;NP_001005741.1:NM_001005741.2;NP_001005742.1:NM_001005742.2 Interacts with saposin-C. Interacts with SCARB2 2020-06-12T23:06:58Z 2020-07-28T02:27:04Z 1 0 0 1614 CDBP01613 Retinoid isomerohydrolase Q16518 RPE65_HUMAN true false Enzyme Homo_sapiens RPE65 533 60947.08 6.481 Secondary metabolites biosynthesis, transport and catabolism Plays important roles in the production of 11-cis retinal and in visual pigment regeneration. The soluble form binds vitamin A (all-trans-retinol), making it available for LRAT processing to all-trans-retinyl ester. The membrane form, palmitoylated by LRAT, binds all-trans-retinyl esters, making them available for IMH (isomerohydrolase) processing to all-cis-retinol. The soluble form is regenerated by transferring its palmitoyl groups onto 11-cis-retinol, a reaction catalyzed by LRAT. The enzymatic activity is linearly dependent of the expression levels and membrane association. U18991 675458 RPE65 1 1p31 RPE65 HGNC:10294 true hsa:6121 ENSG00000116745-MONOMER NP_000320.1:NM_000329.2 Retinal pigment epithelium specific. Fe(2+) ion Interacts with MYO7A; this mediates light-dependent intracellular transport of RPE65 2020-06-12T23:06:58Z 2020-07-28T02:27:04Z 0 1 0 1615 CDBP01614 Vitamin D3 receptor P11473 VDR_HUMAN false false Receptor Homo_sapiens VDR 427 48288.6 6.5 Involved in sequence-specific DNA binding transcription factor activity Nuclear hormone receptor. Transcription factor that mediates the action of vitamin D3 by controlling the expression of hormone sensitive genes. Regulates transcription of hormone sensitive genes via its association with the WINAC complex, a chromatin-remodeling complex. Recruited to promoters via its interaction with the WINAC complex subunit BAZ1B/WSTF, which mediates the interaction with acetylated histones, an essential step for VDR-promoter association. Plays a central role in calcium homeostasis ["None"] ["None"] J03258 340203 VDR Chromosome:1 12q13.11 VDR HGNC:12679 true 2020-06-12T23:06:58Z 2020-07-28T02:27:04Z 1 1 1 1616 CDBP01615 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial Q07973 CP24A_HUMAN true false Enzyme Homo_sapiens CYP24A1 514 58874.695 8.743 Involved in monooxygenase activity Has a role in maintaining calcium homeostasis. Catalyzes the NADPH-dependent 24-hydroxylation of calcidiol (25-hydroxyvitamin D(3)) and calcitriol (1-alpha,25-dihydroxyvitamin D(3)). The enzyme can perform up to 6 rounds of hydroxylation of calcitriol leading to calcitroic acid. It also shows 23-hydroxylating activity leading to 1-alpha,25-dihydroxyvitamin D(3)-26,23-lactone as end product. AL138805 7939322 CYP24A1 20 20q13 CYP24A1 HGNC:2602 true hsa:1591 NP_000773.2:NM_000782.4;NP_001122387.1:NM_001128915.1 Heme group 2020-06-12T23:06:58Z 2020-07-28T02:27:04Z 1 1 0 1617 CDBP01616 Calbindin P05937 CALB1_HUMAN false false Metal Binding Homo_sapiens CALB1 261 30024.8 4.44 Involved in calcium ion binding Buffers cytosolic calcium. May stimulate a membrane Ca(2+)-ATPase and a 3',5'-cyclic nucleotide phosphodiesterase ["None"] ["None"] NM_004929.2 4826655 CALB1 Chromosome:8 8q21.3-q22.1 CALB1 HGNC:1434 true 2020-06-12T23:06:58Z 2020-07-28T02:31:57Z 0 1 0 1618 CDBP01617 Centromere protein R Q13352 CENPR_HUMAN true false Enzyme Homo_sapiens ITGB3BP 177 20194.0 9.7 Involved in protein C-terminus binding Transcription coregulator that can have both coactivator and corepressor functions. Isoform 1, but not other isoforms, is involved in the coactivation of nuclear receptors for retinoid X (RXRs) and thyroid hormone (TRs) in a ligand-dependent fashion. In contrast, it does not coactivate nuclear receptors for retinoic acid, vitamin D, progesterone receptor, nor glucocorticoid. Acts as a coactivator for estrogen receptor alpha. Acts as a transcriptional corepressor via its interaction with the NFKB1 NF- kappa-B subunit, possibly by interfering with the transactivation domain of NFKB1. Induces apoptosis in breast cancer cells, but not in other cancer cells, via a caspase-2 mediated pathway that involves mitochondrial membrane permeabilization but does not require other caspases. May also act as an inhibitor of cyclin A- associated kinase. Also acts a component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex ["None"] ["None"] AF175306 6002985 ITGB3BP Chromosome:1 1p31.3 ITGB3BP HGNC:6157 true 2020-06-12T23:06:58Z 2020-06-12T23:06:58Z 0 0 0 1619 CDBP01618 Phosphate-regulating neutral endopeptidase P78562 PHEX_HUMAN true false Enzyme Homo_sapiens PHEX 749 86473.2 9.05 Involved in metalloendopeptidase activity Probably involved in bone and dentin mineralization and renal phosphate reabsorption ["None"] ["21-41"] U75645 PHEX PHEX HGNC:8918 true 2020-06-12T23:06:58Z 2020-07-28T02:27:04Z 0 0 0 1620 CDBP01619 Electron transfer flavoprotein subunit alpha, mitochondrial P13804 ETFA_HUMAN false false Enzyme Homo_sapiens ETFA 333 35079.2 8.57 Involved in electron carrier activity The electron transfer flavoprotein serves as a specific electron acceptor for several dehydrogenases, including five acyl- CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase. It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase) ["None"] ["None"] 1T9G NM_000126.3 4503607 ETFA Chromosome:1 15q23-q25 ETFA HGNC:3481 true 2020-06-12T23:06:58Z 2020-07-28T02:33:37Z 0 0 0 1621 CDBP01620 Glutamate receptor, ionotropic kainate 1 P39086 GRIK1_HUMAN true true Enzyme Homo_sapiens GRIK1 918 103979.7 7.09 Involved in ionotropic glutamate receptor activity Ionotropic glutamate receptor. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L- glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. May be involved in the transmission of light information from the retina to the hypothalamus ["1-30"] ["577-597", "654-674", "835-855"] 1YAE L19058 GRIK1 Chromosome:2 21q22.11 GRIK1 HGNC:4579 true 2020-06-12T23:06:58Z 2020-07-28T02:27:04Z 1 0 0 1622 CDBP01621 Neutral and basic amino acid transport protein rBAT Q07837 SLC31_HUMAN false false Enzyme Homo_sapiens SLC3A1 685 78851.4 5.81 Involved in catalytic activity Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system B(0,+)-like activity). May function as an activator of SLC7A9 and be involved in the high-affinity reabsorption of cystine in the kidney tubule ["None"] ["88-108"] AB033549 10863046 SLC3A1 Chromosome:2 2p16.3 SLC3A1 HGNC:11025 true 2020-06-12T23:06:58Z 2020-07-28T02:33:37Z 0 0 0 1623 CDBP01622 Glutamate receptor, ionotropic kainate 2 Q13002 GRIK2_HUMAN false true Receptor Homo_sapiens GRIK2 908 102582.5 8.01 Involved in ionotropic glutamate receptor activity Ionotropic glutamate receptor. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L- glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. May be involved in the transmission of light information from the retina to the hypothalamus. Modulates cell surface expression of NETO2 ["1-31"] ["562-582", "636-656", "820-840"] 1YAE U16126 GRIK2 Chromosome:6 6q16.3-q21 GRIK2 HGNC:4580 true 2020-06-12T23:06:58Z 2020-07-28T02:27:04Z 1 0 0 1624 CDBP01623 Angiogenin P03950 ANGI_HUMAN true false Enzyme Homo_sapiens ANG 147 16549.9 10.09 Involved in nucleic acid binding May function as a tRNA-specific ribonuclease that binds to actin on the surface of endothelial cells; once bound, angiogenin is endocytosed and translocated to the nucleus, thereby promoting the endothelial invasiveness necessary for blood vessel formation. Angiogenin induces vascularization of normal and malignant tissues. Abolishes protein synthesis by specifically hydrolyzing cellular tRNAs ["1-24"] ["None"] 2ANG BC054880 33392770 ANG Chromosome:1 14q11.1-q11.2 ANG HGNC:483 true 2020-06-12T23:06:58Z 2020-06-12T23:06:58Z 0 0 0 1625 CDBP01624 Cationic amino acid transporter 4 O43246 CTR4_HUMAN true true Enzyme Homo_sapiens SLC7A4 635 68267.2 7.08 Involved in transport Involved in the transport of the cationic amino acids (arginine, lysine and ornithine) ["None"] ["42-62", "66-86", "113-133", "197-217", "229-249", "270-290", "318-338", "365-385", "391-411", "478-498", "508-528", "539-559", "567-587"] NM_004173.2 110347453 SLC7A4 Chromosome:2 22q11.21 SLC7A4 HGNC:11062 true 2020-06-12T23:06:58Z 2020-07-28T02:27:04Z 0 0 0 1626 CDBP01625 B(0,+)-type amino acid transporter 1 P82251 BAT1_HUMAN false true Transporter Homo_sapiens SLC7A9 487 53480.8 8.21 Involved in transport Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high- affinity reabsorption of cystine in the kidney tubule ["None"] ["30-50", "61-81", "100-120", "149-169", "179-199", "211-231", "252-272", "297-317", "349-369", "375-395", "410-430", "435-455"] AF141289 5916108 SLC7A9 Chromosome:1 19q13.1 SLC7A9 HGNC:11067 true 2020-06-12T23:06:58Z 2020-07-28T02:32:07Z 0 0 0 1627 CDBP01626 Lysosomal alpha-glucosidase P10253 LYAG_HUMAN true false Enzyme Homo_sapiens GAA 952 Involved in catalytic activity Essential for the degradation of glygogen to glucose in lysosomes. Y00839 31608 GAA GAA HGNC:4065 true hsa:2548 NP_000143.2:NM_000152.3;NP_001073271.1:NM_001079803.1;NP_001073272.1:NM_001079804.1 2020-06-12T23:06:58Z 2020-06-12T23:06:58Z 0 0 0 1628 CDBP01627 Glutamate receptor, ionotropic kainate 3 Q13003 GRIK3_HUMAN true true Enzyme Homo_sapiens GRIK3 919 104036.1 7.55 Involved in ionotropic glutamate receptor activity Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. This receptor binds domoate > kainate >> L-glutamate = quisqualate >> AMPA = NMDA ["1-31"] ["564-584", "637-657", "821-841"] 1YAE AL355386 56205347 GRIK3 Chromosome:1 1p34-p33 GRIK3 HGNC:4581 true 2020-06-12T23:06:58Z 2020-07-28T02:27:04Z 1 0 0 1629 CDBP01628 Iron-responsive element-binding protein 2 P48200 IREB2_HUMAN false false Enzyme Homo_sapiens IREB2 963 105043.6 7.05 Involved in metabolic process RNA-binding protein that binds to iron-responsive elements (IRES), which are stem-loop structures found in the 5'- UTR of ferritin, and delta aminolevulinic acid synthase mRNAs, and in the 3'-UTR of transferrin receptor mRNA. Binding to the IRE element in ferritin results in the repression of its mRNA translation. Binding of the protein to the transferrin receptor mRNA inhibits the degradation of this otherwise rapidly degraded mRNA ["None"] ["None"] NM_004136.2 41352693 IREB2 Chromosome:1 15q25.1 IREB2 HGNC:6115 true 2020-06-12T23:06:58Z 2020-07-28T02:33:37Z 0 0 0 1630 CDBP01629 Proprotein convertase subtilisin/kexin type 6 P29122 PCSK6_HUMAN true false Enzyme Homo_sapiens PCSK6 969 106419.2 7.7 Involved in serine-type endopeptidase activity Likely to represent an endoprotease activity within the constitutive secretory pathway, with unique restricted distribution in both neuroendocrine and non-neuroendocrine tissues and capable of cleavage at the RX(K/R)R consensus motif ["1-63"] ["None"] AB001914 2281775 PCSK6 Chromosome:1 15q26.3 PCSK6 HGNC:8569 true 2020-06-12T23:06:58Z 2020-07-28T02:27:04Z 0 0 0 1631 CDBP01630 Geranylgeranyl transferase type-1 subunit beta P53609 PGTB1_HUMAN true false Enzyme Homo_sapiens PGGT1B 377 42367.81 6.822 Involved in CAAX-protein geranylgeranyltransferase acti Catalyzes the transfer of a geranyl-geranyl moiety from geranyl-geranyl pyrophosphate to a cysteine at the fourth position from the C-terminus of proteins having the C-terminal sequence Cys-aliphatic-aliphatic-X. Acts on the Rac1, Rac2, Rap1A and Rap1B proteins. The beta subunit is responsible for peptide-binding. NM_005023.3 167860116 PGGT1B 5 5q22.3 HGNC:8895 true hsa:5229 NP_005014.2:NM_005023.3 zinc ion Heterodimer of an alpha and a beta subunit 2020-06-12T23:06:58Z 2020-07-28T02:27:04Z 0 1 0 1632 CDBP01631 Protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha P49354 FNTA_HUMAN true false Enzyme Homo_sapiens FNTA 379 44408.32 5.087 Involved in protein prenyltransferase activity Catalyzes the transfer of a farnesyl or geranyl-geranyl moiety from farnesyl or geranyl-geranyl pyrophosphate to a cysteine at the fourth position from the C-terminus of several proteins having the C-terminal sequence Cys-aliphatic-aliphatic-X. The alpha subunit is thought to participate in a stable complex with the substrate. The beta subunit binds the peptide substrate. Through RAC1 prenylation and activation may positively regulate neuromuscular junction development downstream of MUSK (By similarity). 1JCQ;1LD7;1LD8;1MZC;1S63;1SA4;1TN6;2F0Y;2H6F;2H6G;2H6H;2H6I;2IEJ;3E37 L10413 FNTA 8 8p11 FNTA HGNC:3782 true hsa:2339 NP_002018.1:NM_002027.2 Heterodimer of an alpha and a beta subunit. Interacts with MUSK; the interaction is direct and mediates AGRIN-induced phosphorylation of FNTA 2020-06-12T23:06:58Z 2020-07-28T02:27:04Z 1 0 0 1633 CDBP01632 Dehydrogenase/reductase SDR family member 2 Q13268 DHRS2_HUMAN true false Enzyme Homo_sapiens DHRS2 258 27438.4 8.81 Involved in oxidoreductase activity Displays NADPH-dependent dicarbonyl reductase activity in vitro with 3,4-Hexanedione, 2,3-Heptanedione and 1-Phenyl-1,2- propanedione as substrates. No reductase activity is displayed in vitro with steroids, retinoids and sugars as substrates. May inhibit cell replication ["None"] ["None"] NM_005794 5031737 DHRS2 Chromosome:1 14q11.2 DHRS2 HGNC:18349 true 2020-06-12T23:06:58Z 2020-06-12T23:06:58Z 0 0 0 1634 CDBP01633 Vasopressin V1b receptor P47901 V1BR_HUMAN false false Receptor Homo_sapiens AVPR1B 424 46970.3 9.05 Involved in G-protein coupled receptor protein signaling pathway Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate a phosphatidyl- inositol-calcium second messenger system ["None"] ["36-59", "72-93", "109-130", "152-173", "202-222", "284-303", "322-341"] AF030512 2613125 AVPR1B Chromosome:1 1q32 AVPR1B HGNC:896 true 2020-06-12T23:06:58Z 2020-07-28T02:27:05Z 1 0 0 1635 CDBP01634 Cullin-5 Q93034 CUL5_HUMAN true false Enzyme Homo_sapiens CUL5 780 90954.6 8.09 Involved in calcium channel activity Core component of multiple SCF-like ECS (Elongin-Cullin 2/5-SOCS-box protein) E3 ubiquitin-protein ligase complexes, which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. As a scaffold protein may contribute to catalysis through positioning of the substrate and the ubiquitin- conjugating enzyme. The functional specificity of the E3 ubiquitin-protein ligase complex depends on the variable substrate recognition component. ECS(SOCS1) seems to direct ubiquitination of JAk2. Seems to be involved poteosomal degradation of p53/TP53 stimulated by adenovirus E1B-55 kDa protein. May form a cell surface vasopressin receptor ["None"] ["None"] NM_003478.3 40254446 CUL5 Chromosome:1 11q22.3 true 2020-06-12T23:06:58Z 2020-06-12T23:06:58Z 0 0 0 1636 CDBP01635 Oxytocin-neurophysin 1 P01178 NEU1_HUMAN true false Enzyme Homo_sapiens OXT 125 12721.5 5.78 Involved in neurohypophyseal hormone activity Oxytocin causes contraction of the smooth muscle of the uterus and of the mammary gland ["1-19"] ["None"] AL160414 10334459 OXT Chromosome:2 20p13 OXT HGNC:8528 true 2020-06-12T23:06:58Z 2020-07-28T02:27:05Z 1 0 0 1637 CDBP01636 Transthyretin P02766 TTHY_HUMAN true false Enzyme Homo_sapiens TTR 147 15886.9 5.58 Involved in hormone activity Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain ["1-20"] ["None"] 1KED K02091 189582 TTR Chromosome:1 18q12.1 TTR HGNC:12405 true 2020-06-12T23:06:58Z 2020-06-12T23:06:58Z 0 0 0 1638 CDBP01637 Ig lambda chain V-II region MGC P01709 LV206_HUMAN true false Enzyme Homo_sapiens 111 11557.5 4.91 Involved in antigen binding ["None"] ["None"] 1A8J AM183998 86438996 true 2020-06-12T23:06:58Z 2020-06-12T23:06:58Z 0 0 0 1639 CDBP01638 Leukotriene B4 receptor 1 Q15722 LT4R1_HUMAN false false Receptor Homo_sapiens LTB4R 352 37556.9 11.63 Involved in G-protein coupled receptor protein signaling pathway Receptor for extracellular ATP > UTP and ADP. The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. May be the cardiac P2Y receptor involved in the regulation of cardiac muscle contraction through modulation of L-type calcium currents. Is a receptor for leukotriene B4, a potent chemoattractant involved in inflammation and immune response ["None"] ["20-42", "55-75", "92-113", "139-159", "179-199", "222-242", "269-289"] AB008193 9229837 LTB4R Chromosome:1 14q11.2-q12 LTB4R HGNC:6713 true 2020-06-12T23:06:58Z 2020-07-28T02:27:05Z 1 0 0 1640 CDBP01639 Sodium/nucleoside cotransporter 1 O00337 S28A1_HUMAN false true Transporter Homo_sapiens SLC28A1 649 71583.18 7.596 Involved in nucleoside:sodium symporter activity Sodium-dependent and pyrimidine-selective. Exhibits the transport characteristics of the nucleoside transport system cit or N2 subtype (N2/cit) (selective for pyrimidine nucleosides and adenosine). It also transports the antiviral pyrimidine nucleoside analogs 3'-azido-3'-deoxythymidine (AZT) and 2',3'-dideoxycytidine (ddC). It may be involved in the intestinal absorption and renal handling of pyrimidine nucleoside analogs used to treat acquired immunodeficiency syndrome (AIDS). It has the following selective inhibition: adenosine, thymidine, cytidine, uridine >> guanosine, inosine. NM_004213.3 42542381 SLC28A1 15 15q25.3 SLC28A1 HGNC:11001 true hsa:9154 NP_004204.3:NM_004213.3;NP_964014.1:NM_201651.1 Expressed in kidney. 2020-06-12T23:06:58Z 2020-07-28T02:32:07Z 0 0 0 1641 CDBP01640 Protein kinase C delta type Q05655 KPCD_HUMAN true false Enzyme Homo_sapiens PRKCD 676 77504.4 7.81 Involved in protein serine/threonine kinase activity This is calcium-independent, phospholipid-dependent, serine- and threonine-specific enzyme. PKC is activated by diacylglycerol which in turn phosphorylates a range of cellular proteins. PKC also serves as the receptor for phorbol esters, a class of tumor promoters. May play a role in antigen-dependent control of B-cell function. Phosphorylates MUC1 in the C-terminal and regulates the interaction between MUC1 and beta-catenin ["None"] ["None"] AK313216 189053779 PRKCD Chromosome:3 3p21.31 PRKCD HGNC:9399 true 2020-06-12T23:06:58Z 2020-07-28T02:27:05Z 0 0 0 1642 CDBP01641 Serine/threonine-protein kinase D3 O94806 KPCD3_HUMAN true false Enzyme Homo_sapiens PRKD3 890 100469.8 6.87 Involved in intracellular signaling pathway Converts transient diacylglycerol (DAG) signals into prolonged physiological effects, downstream of PKC. Involved in resistance to oxidative stress ["None"] ["None"] AB015982 4115769 PRKD3 Chromosome:2 2p21 PRKD3 HGNC:9408 true 2020-06-12T23:06:58Z 2020-07-28T02:27:05Z 0 0 0 1643 CDBP01642 Protein kinase C theta type Q04759 KPCT_HUMAN true false Enzyme Homo_sapiens PRKCQ 706 81864.1 7.64 Involved in protein serine/threonine kinase activity PKC is activated by diacylglycerol which in turn phosphorylates a range of cellular proteins. PKC also serves as the receptor for phorbol esters, a class of tumor promoters ["None"] ["None"] 1XJD AL137145 55957459 PRKCQ Chromosome:1 10p15 PRKCQ HGNC:9410 true 2020-06-12T23:06:58Z 2020-07-28T02:27:05Z 0 0 0 1644 CDBP01643 Protein kinase C eta type P24723 KPCL_HUMAN true false Enzyme Homo_sapiens PRKCH 683 77828.0 7.8 Involved in protein serine/threonine kinase activity PKC is activated by diacylglycerol which in turn phosphorylates a range of cellular proteins. PKC also serves as the receptor for phorbol esters, a class of tumor promoters ["None"] ["None"] AK290183 158261389 PRKCH Chromosome:1 14q23.1 PRKCH HGNC:9403 true 2020-06-12T23:06:58Z 2020-07-28T02:27:05Z 0 0 0 1645 CDBP01644 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 O75038 PLCH2_HUMAN true false Enzyme Homo_sapiens PLCH2 1416 154666.975 7.84 Involved in calcium ion binding The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. This phospholipase activity is very sensitive to calcium. May be important for formation and maintenance of the neuronal network in the postnatal brain (By similarity). DQ176850 PLCH2 1 1p36.32 PLCH2 HGNC:29037 true hsa:9651 NP_055453.2:NM_014638.2 Expressed in retina and kidney. Calcium 2020-06-12T23:06:58Z 2020-07-28T02:27:05Z 0 1 0 1646 CDBP01645 Protein kinase C epsilon type Q02156 KPCE_HUMAN true false Enzyme Homo_sapiens PRKCE 737 83673.2 7.13 Involved in protein serine/threonine kinase activity PKC is activated by diacylglycerol which in turn phosphorylates a range of cellular proteins. PKC also serves as the receptor for phorbol esters, a class of tumor promoters ["None"] ["None"] NM_005400.2 4885563 PRKCE Chromosome:2 2p21 PRKCE HGNC:9401 true 2020-06-12T23:06:58Z 2020-07-28T02:27:05Z 0 0 0 1647 CDBP01646 rRNA 2'-O-methyltransferase fibrillarin P22087 FBRL_HUMAN true false Enzyme Homo_sapiens FBL 321 33784.1 10.81 Involved in RNA binding Involved in pre-rRNA processing. Utilizes the methyl donor S-adenosyl-L-methionine to catalyze the site-specific 2'- hydroxyl methylation of ribose moieties in pre-ribosomal RNA. Site specificity is provided by a guide RNA that base pairs with the substrate. Methylation occurs at a characteristic distance from the sequence involved in base pairing with the guide RNA ["None"] ["None"] AB451384 197692469 FBL Chromosome:1 19q13.1 FBL HGNC:3599 true 2020-06-12T23:06:58Z 2020-07-28T02:27:05Z 0 0 0 1648 CDBP01647 Multidrug resistance-associated protein 1 P33527 MRP1_HUMAN false true Transporter Homo_sapiens ABCC1 1531 171589.5 7.11 Involved in ATP binding Mediates export of organic anions and drugs from the cytoplasm. Mediates ATP-dependent transport of glutathione and glutathione conjugates, leukotriene C4, estradiol-17-beta-o- glucuronide, methotrexate, antiviral drugs and other xenobiotics. Confers resistance to anticancer drugs. Hydrolyzes ATP with low efficiency ["None"] ["34-54", "75-95", "101-121", "134-154", "173-193", "317-337", "364-384", "441-461", "465-485", "548-568", "591-611", "968-988", "1026-1046", "1090-1110", "1112-1132", "1204-1224", "1227-1247"] NM_004996.3 134142337 ABCC1 Chromosome:1 16p13.1 ABCC1 HGNC:51 true 2020-06-12T23:06:58Z 2020-06-12T23:06:58Z 0 0 0 1649 CDBP01648 Multidrug resistance-associated protein 6 O95255 MRP6_HUMAN false true Transporter Homo_sapiens ABCC6 1503 164904.8 8.6 Involved in ATP binding May participate directly in the active transport of drugs into subcellular organelles or influence drug distribution indirectly. Transports glutathione conjugates as leukotriene-c4 (LTC4) and N-ethylmaleimide S-glutathione (NEM-GS) ["None"] ["32-52", "73-93", "99-119", "132-149", "168-188", "303-323", "350-370", "427-447", "451-471", "534-554", "576-596", "940-960", "998-1018", "1062-1082", "1084-1104", "1176-1196", "1199-1219"] NM_001171.5 190343023 ABCC6 Chromosome:1 16p13.1 ABCC6 HGNC:57 true 2020-06-12T23:06:58Z 2020-06-12T23:06:58Z 0 0 0 1650 CDBP01649 Type II inositol 1,4,5-trisphosphate 5-phosphatase P32019 I5P2_HUMAN true false Enzyme Homo_sapiens INPP5B 993 103986.41 5.357 Involved in inositol or phosphatidylinositol phosphatase activity Hydrolyzes phosphatidylinositol 4,5-bisphosphate (PtIns(4,5)P2) and the signaling molecule phosphatidylinositol 1,4,5-trisphosphate (PtIns(1,4,5)P3), and thereby modulates cellular signaling events. 3MTC;3N9V AL603790 55665969 INPP5B 1 1p34 INPP5B HGNC:6077 true hsa:3633 HS05898-MONOMER NP_005531.2:NM_005540.2 Platelets. Interacts with APPL1, FAM109A and FAM109B. Interacts with several Rab GTPases, at least RAB1A, RAB2A, RAB5A, RAB6A, RAB8A, RAB9A and RAB33B; these interactions may play a dual role in targeting INPP5B to the specific membranes and stimulating the phosphatase activity 2020-06-12T23:06:58Z 2020-07-28T02:27:06Z 0 1 0 1651 CDBP01650 Aryl hydrocarbon receptor P35869 AHR_HUMAN false false Receptor Homo_sapiens AHR 848 96146.7 6.34 Involved in transcription regulator activity Ligand-activated transcriptional activator. Binds to the XRE promoter region of genes it activates. Activates the expression of multiple phase I and II xenobiotic chemical metabolizing enzyme genes (such as the CYP1A1 gene). Mediates biochemical and toxic effects of halogenated aromatic hydrocarbons. Involved in cell-cycle regulation. Likely to play an important role in the development and maturation of many tissues ["None"] ["None"] NM_001621.4 4502003 AHR Chromosome:7 7p15 AHR HGNC:348 true 2020-06-12T23:06:58Z 2020-07-28T02:27:06Z 1 0 1 1652 CDBP01651 Nuclear factor of activated T-cells, cytoplasmic 1 O95644 NFAC1_HUMAN false false Transcription Factor Homo_sapiens NFATC1 943 101241.7 6.99 Involved in sequence-specific DNA binding transcription factor activity Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2 or IL-4 gene transcription. Also controls gene expression in embryonic cardiac cells. Could regulate not only the activation and proliferation but also the differentiation and programmed death of T-lymphocytes as well as lymphoid and non-lymphoid cells ["None"] ["None"] 27502393 NFATC1 Chromosome:1 18q23 NFATC1 HGNC:7775 true 2020-06-12T23:06:58Z 2020-07-28T02:32:06Z 0 0 1 1653 CDBP01652 Plasminogen activator inhibitor 1 P05121 PAI1_HUMAN true false Enzyme Homo_sapiens SERPINE1 402 45059.7 7.22 Involved in serine-type endopeptidase inhibitor activity This inhibitor acts as 'bait' for tissue plasminogen activator, urokinase, and protein C. Its rapid interaction with TPA may function as a major control point in the regulation of fibrinolysis ["1-23"] ["None"] 1C5G X04429 35272 SERPINE1 Chromosome:7 7q21.3-q22 SERPINE1 HGNC:8583 true 2020-06-12T23:06:58Z 2020-06-12T23:06:58Z 0 0 0 1654 CDBP01653 Cyclic AMP-responsive element-binding protein 5 Q02930 CREB5_HUMAN false false Enzyme Homo_sapiens CREB5 508 56858.0 8.63 Involved in sequence-specific DNA binding transcription factor activity Binds to the cAMP response element and activates transcription ["None"] ["None"] NM_182898.2 59938770 CREB5 Chromosome:7 7p15.1 CREB5 HGNC:16844 true 2020-06-12T23:06:58Z 2020-07-28T02:33:37Z 0 1 1 1655 CDBP01654 PR domain zinc finger protein 2 Q13029 PRDM2_HUMAN false false Enzyme Homo_sapiens PRDM2 1718 162105.34 6.849 Involved in DNA binding S-adenosyl-L-methionine-dependent histone methyltransferase that specifically methylates 'Lys-9' of histone H3. May function as a DNA-binding transcription factor. Binds to the macrophage-specific TPA-responsive element (MTE) of the HMOX1 (heme oxygenase 1) gene and may act as a transcriptional activator of this gene. 2JV0;2QPW AL031277 56417724 PRDM2 1 1p36.21 PRDM2 HGNC:9347 true hsa:7799 NP_001007258.1:NM_001007257.2;NP_036363.2:NM_012231.4;NP_056950.2:NM_015866.4 Highly expressed in retinoblastoma cell lines and in brain tumors. Also expressed in a number of other cell lines and in brain, heart, skeletal muscle, liver and spleen. Isoform 1 is expressed in testis at much higher level than isoform 3. Binds to the retinoblastoma protein (RB). Interacts with GATA3 2020-06-12T23:06:58Z 2020-07-28T02:33:37Z 0 1 1 1656 CDBP01655 Tissue-type plasminogen activator P00750 TPA_HUMAN true false Enzyme Homo_sapiens PLAT 562 62916.5 7.81 Involved in serine-type endopeptidase activity Converts the abundant, but inactive, zymogen plasminogen to plasmin by hydrolyzing a single Arg-Val bond in plasminogen. By controlling plasmin-mediated proteolysis, it plays an important role in tissue remodeling and degradation, in cell migration and many other physiopathological events. Play a direct role in facilitating neuronal migration ["1-22"] ["None"] 1BDA M15518 190032 PLAT Chromosome:8 8p12 PLAT HGNC:9051 true 2020-06-12T23:06:58Z 2020-06-12T23:06:58Z 0 0 0 1657 CDBP01656 C-C motif chemokine 2 P13500 CCL2_HUMAN true false Enzyme Homo_sapiens CCL2 99 11024.9 9.72 Involved in chemokine activity Chemotactic factor that attracts monocytes and basophils but not neutrophils or eosinophils. Augments monocyte anti-tumor activity. Has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis or atherosclerosis. May be involved in the recruitment of monocytes into the arterial wall during the disease process of atherosclerosis ["1-23"] ["None"] 1DON A17786 641145 CCL2 Chromosome:1 17q11.2-q12 CCL2 HGNC:10618 true 2020-06-12T23:06:58Z 2020-07-28T02:27:06Z 1 0 0 1658 CDBP01657 Endothelial differentiation-related factor 1 O60869 EDF1_HUMAN false false Enzyme Homo_sapiens EDF1 148 16368.6 10.72 Involved in sequence-specific DNA binding Transcriptional coactivator stimulating NR5A1 and ligand-dependent NR1H3/LXRA and PPARG transcriptional activities. Enhances the DNA-binding activity of ATF1, ATF2, CREB1 and NR5A1. Regulates nitric oxid synthase activity probably by sequestering calmodulin in the cytoplasm. May function in endothelial cells differentiation, hormone-induced cardiomyocytes hypertrophy and lipid metabolism ["None"] ["None"] AB002282 6526355 EDF1 Chromosome:9 9q34.3 EDF1 HGNC:3164 true 2020-06-12T23:06:58Z 2020-07-28T02:33:37Z 0 0 0 1659 CDBP01658 Hyaluronan synthase 2 Q92819 HAS2_HUMAN true false Enzyme Homo_sapiens HAS2 552 63565.845 8.605 Cell wall/membrane/envelope biogenesis Plays a role in hyaluronan/hyaluronic acid (HA) synthesis. BC069353 46854837 HAS2 8 8q24.12 HGNC:4819 true hsa:3037 NP_005319.1:NM_005328.2 Expressed in fibroblasts. Magnesium 2020-06-12T23:06:58Z 2020-07-28T02:27:06Z 0 0 0 1660 CDBP01659 Elongation factor 1-alpha 1 P68104 EF1A1_HUMAN false false Enzyme Homo_sapiens EEF1A1 462 50140.6 9.5 Involved in GTPase activity This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis ["None"] ["None"] X03558 31098 EEF1A1 Chromosome:6 6q14.1 EEF1A1 HGNC:3189 true 2020-06-12T23:06:58Z 2020-07-28T02:33:37Z 0 0 0 1661 CDBP01660 Elongation factor 1-alpha 2 Q05639 EF1A2_HUMAN false false Enzyme Homo_sapiens EEF1A2 463 50469.9 9.5 Involved in GTPase activity This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis ["None"] ["None"] X70940 38456 EEF1A2 Chromosome:2 20q13.3 EEF1A2 HGNC:3192 true 2020-06-12T23:06:58Z 2020-07-28T02:33:37Z 0 0 0 1662 CDBP01661 Calmodulin-like protein 3 P27482 CALL3_HUMAN false false Metal Binding Homo_sapiens CALML3 149 16890.6 4.04 Involved in calcium ion binding May be similar to that of authentic calmodulin and may actually compete with calmodulin by binding, with different affinities, to cellular substrates ["None"] ["None"] 1GGZ AK313934 189054133 CALML3 Chromosome:1 10pter-p13 CALML3 HGNC:1452 true 2020-06-12T23:06:58Z 2020-07-28T02:31:57Z 0 1 0 1663 CDBP01662 Bifunctional coenzyme A synthase Q13057 COASY_HUMAN true false Enzyme Homo_sapiens COASY 564 62328.245 6.99 Involved in catalytic activity Bifunctional enzyme that catalyzes the fourth and fifth sequential steps of CoA biosynthetic pathway. The fourth reaction is catalyzed by the phosphopantetheine adenylyltransferase, coded by the coaD domain; the fifth reaction is catalyzed by the dephospho-CoA kinase, coded by the coaE domain. May act as a point of CoA biosynthesis regulation. NM_001042529.1 110227601 COASY 17 17q12-q21 COASY HGNC:29932 true hsa:80347 NP_001035994.1:NM_001042529.2;NP_001035997.2:NM_001042532.3;NP_079509.5:NM_025233.6 Expressed in all tissues examined including brain, heart, skeletal muscle, colon, thymus, spleen, kidney, liver, small intestine, placenta, lung and peripheral blood leukocyte. Lowest expression in peripheral blood leukocytes and highest in kidney and liver. Isoform 2 is expressed mainly in the brain. Monomer 2020-06-12T23:06:58Z 2020-06-12T23:06:58Z 0 0 0 1664 CDBP01663 Protein S100-A8 P05109 S10A8_HUMAN false false Metal Binding Homo_sapiens S100A8 93 10834.4 7.07 Involved in calcium ion binding Calcium-binding protein. Has antimicrobial activity towards bacteria and fungi. Important for resistance to invasion by pathogenic bacteria. Up-regulates transcription of genes that are under the control of NF-kappa-B. Plays a role in the development of endotoxic shock in response to bacterial lipopolysaccharide (LPS). Promotes tubulin polymerization. Promotes phagocyte migration and infiltration of granulocytes at sites of wounding. Plays a role as pro- inflammatory mediator in acute and chronic inflammation and up- regulates the release of IL8 and cell-surface expression of ICAM1. Extracellular calprotectin binds to target cells and promotes apoptosis. Antimicrobial and proapoptotic activity is inhibited by zinc ions ["None"] ["None"] 1MR8 AK291328 158256092 S100A8 Chromosome:1 1q21 S100A8 HGNC:10498 true 2020-06-12T23:06:58Z 2020-07-28T02:31:57Z 0 1 0 1665 CDBP01664 Glucose-6-phosphate translocase O43826 G6PT1_HUMAN true true Enzyme Homo_sapiens SLC37A4 429 46359.6 8.77 Carbohydrate transport and metabolism Transports glucose-6-phosphate from the cytoplasm to the lumen of the endoplasmic reticulum. Forms with glucose-6- phosphatase the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it plays a central role in homeostatic regulation of blood glucose levels ["None"] ["84-104", "105-125", "139-159", "167-187", "219-239", "260-280", "302-322", "329-349", "368-388", "394-414"] AF078163 3859932 SLC37A4 Chromosome:1 11q23.3 true 2020-06-12T23:06:58Z 2020-07-28T02:27:06Z 0 0 0 1666 CDBP01665 Laforin O95278 EPM2A_HUMAN true false Enzyme Homo_sapiens EPM2A 331 35518.41 6.265 Involved in carbohydrate binding Dual specificity protein phosphatase. May be involved in the control of glycogen metabolism, particularly in monitoring for and preventing the formation of poorly branched glycogen molecules (polyglucosans). Acts as a scaffold protein to facilitate PPP1R3C/PTG ubiquitination by NHLRC1/malin. Forms a complex with NHLRC1/malin and HSP70 and this complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system (UPS). Isoform 2, an inactive phosphatase, could function as a dominant-negative regulator for the phosphatase activity of isoform 1. AF084535 6005986 EPM2A 6 6q24 EPM2A HGNC:3413 true hsa:7957 NP_001018051.1:NM_001018041.1;NP_005661.1:NM_005670.3 Expressed in heart, skeletal muscle, kidney, pancreas and brain. Isoform 4 is also expressed in the placenta. Interacts with itself. Interacts also with PPP1R3C, HIRIP5 and EPM2AIP1. Binds glycogen and Lafora bodies. Interacts with NHLRC1/malin (via the NHL repeats). Forms a complex with NHLRC1/malin and HSP70. Isoform 2 does not bind glycogen. Isoform 1 and isoform 2 interact to form a heterodimeric complex inactive as phosphatase in vitro. Active phosphatase isoform 7 interacts with isoform 1 or isoform 2 to form a heterodimeric complex inactive as phosphatase in vitro 2020-06-12T23:06:58Z 2020-06-12T23:06:58Z 0 0 0 1667 CDBP01666 Serine/threonine-protein phosphatase PP1-gamma catalytic subunit P36873 PP1G_HUMAN true false Enzyme Homo_sapiens PPP1CC 323 38517.92 6.121 Involved in hydrolase activity Protein phosphatase that associates with over 200 regulatory proteins to form highly specific holoenzymes which dephosphorylate hundreds of biological targets. Protein phosphatase 1 (PP1) is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Dephosphorylates RPS6KB1. Involved in regulation of ionic conductances and long-term synaptic plasticity. May play an important role in dephosphorylating substrates such as the postsynaptic density-associated Ca(2+)/calmodulin dependent protein kinase II. Component of the PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase. 1IT6;1JK7;1U32;2BCD;2BDX X74008 402778 PPP1CC 12 12q24.1-q24.2 PPP1CC HGNC:9283 true hsa:5501 NP_001231903.1:NM_001244974.1;NP_002701.1:NM_002710.3 iron ion;manganese ion PP1 comprises a catalytic subunit, PPP1CA, PPP1CB or PPP1CC, which is folded into its native form by inhibitor 2 and glycogen synthetase kinase 3, and then complexed to one or several targeting or regulatory subunits. PPP1R12A, PPP1R12B and PPP1R12C mediate binding to myosin. PPP1R3A (in skeletal muscle), PPP1R3B (in liver), PPP1R3C, PPP1R3D and PPP1R3F (in brain) mediate binding to glycogen. Interacts with cyanobacterial toxin microcystin; disulfide-linked. Interacts with PPP1R3B and PPP1R7. Isoform gamma-2 interacts with SPZ1 . Component of the MLL5-L complex, at least composed of MLL5, STK38, PPP1CA, PPP1CB, PPP1CC, HCFC1, ACTB and OGT. Interacts with CDCA2. PPP1R15A and PPP1R15B mediate binding to EIF2S1. Part of a complex containing PPP1R15B, PP1 and NCK1/2. Interacts with IKFZ1; the interaction targets PPP1CC to pericentromeric heterochromatin, dephosphorylates IKAROS, stabilizes it and prevents it from degradation. Interacts with PPP1R42; the interaction is direct (By similarity). Interacts with NOM1 and PPP1R8. Component of the PTW/PP1 phosphatase complex, composed of PPP1R10/PNUTS, TOX4, WDR82, and PPP1CA or PPP1CB or PPP1CC. Interacts with PPP1R8. Interacts with isoform 1 and isoform 4 NEK2. Interacts with URI1; the interaction is phosphorylation-dependent and occurs in a growth factor-dependent manner 2020-06-12T23:06:58Z 2020-07-28T02:27:07Z 1 1 0 1668 CDBP01667 5'-AMP-activated protein kinase catalytic subunit alpha-1 Q13131 AAPK1_HUMAN true false Enzyme Homo_sapiens PRKAA1 559 64008.6 8.21 Involved in protein kinase activity Responsible for the regulation of fatty acid synthesis by phosphorylation of acetyl-CoA carboxylase. It also regulates cholesterol synthesis via phosphorylation and inactivation of hormone-sensitive lipase and hydroxymethylglutaryl-CoA reductase. Appears to act as a metabolic stress-sensing protein kinase switching off biosynthetic pathways when cellular ATP levels are depleted and when 5'-AMP rises in response to fuel limitation and/or hypoxia. This is a catalytic subunit ["None"] ["None"] NM_006251.5 94557301 PRKAA1 Chromosome:5 5p12 PRKAA1 HGNC:9376 true 2020-06-12T23:06:58Z 2020-07-28T02:27:07Z 0 0 0 1669 CDBP01668 Multidrug resistance protein 3 P21439 MDR3_HUMAN false true Transporter Homo_sapiens ABCB4 1286 141521.8 8.74 Involved in ATP binding Mediates ATP-dependent export of organic anions and drugs from the cytoplasm. Hydrolyzes ATP with low efficiency. Human MDR3 is not capable of conferring drug resistance. Mediates the translocation of phosphatidylcholine across the canalicular membrane of the hepatocyte ["None"] ["51-73", "119-139", "189-210", "218-238", "297-318", "333-354", "712-732", "756-776", "832-852", "854-873", "934-956", "973-994"] NM_018849.2 9961250 ABCB4 Chromosome:7 7q21.1 ABCB4 HGNC:45 true 2020-06-12T23:06:58Z 2020-06-12T23:06:58Z 0 0 0 1670 CDBP01669 5'-AMP-activated protein kinase catalytic subunit alpha-2 P54646 AAPK2_HUMAN true false Enzyme Homo_sapiens PRKAA2 552 62319.1 7.82 Involved in protein kinase activity Responsible for the regulation of fatty acid synthesis by phosphorylation of acetyl-CoA carboxylase. It also regulates cholesterol synthesis via phosphorylation and inactivation of hormone-sensitive lipase and hydroxymethylglutaryl-CoA reductase. Appears to act as a metabolic stress-sensing protein kinase switching off biosynthetic pathways when cellular ATP levels are depleted and when 5'-AMP rises in response to fuel limitation and/or hypoxia. This is a catalytic subunit ["None"] ["None"] AL035705 56203182 PRKAA2 Chromosome:1 1p31 PRKAA2 HGNC:9377 true 2020-06-12T23:06:58Z 2020-07-28T02:27:07Z 0 0 0 1671 CDBP01670 Putative dimethylaniline monooxygenase [N-oxide-forming] 6 O60774 FMO6_HUMAN true false Enzyme Homo_sapiens FMO6P 539 Involved in flavin-containing monooxygenase activity It is probable that this protein is only produced in very small quantity or not at all as the gene coding for it seems to be unable to produce full length transcripts. FMO6P FMO6P HGNC:24024 true FAD 2020-06-12T23:06:58Z 2020-07-28T02:27:07Z 0 0 0 1672 CDBP01671 Nuclear receptor subfamily 0 group B member 1 P51843 NR0B1_HUMAN true false Enzyme Homo_sapiens NR0B1 470 51717.2 8.12 Involved in sequence-specific DNA binding transcription factor activity Orphan nuclear receptor. Component of a cascade required for the development of the hypothalamic-pituitary-adrenal-gonadal axis. Acts as a coregulatory protein that inhibits the transcriptional activity of other nuclear receptors through heterodimeric interactions. May also have a role in the development of the embryo and in the maintenance of embryonic stem cell pluripotency ["None"] ["None"] S74720 NR0B1 NR0B1 HGNC:7960 true 2020-06-12T23:06:58Z 2020-07-28T02:27:07Z 1 0 1 1673 CDBP01672 Retinoic acid receptor gamma P13631 RARG_HUMAN true false Enzyme Homo_sapiens RARG 454 50341.4 7.52 Involved in sequence-specific DNA binding transcription factor activity This is a receptor for retinoic acid. This metabolite has profound effects on vertebrate development. Retinoic acid is a morphogen and is a powerful teratogen. This receptor controls cell function by directly regulating gene expression ["None"] ["None"] 1EXX NM_000966.4 4506423 RARG Chromosome:1 12q13 RARG HGNC:9866 true 2020-06-12T23:06:58Z 2020-07-28T02:27:07Z 1 1 1 1674 CDBP01673 Retinoic acid receptor responder protein 1 P49788 TIG1_HUMAN true false Enzyme Homo_sapiens RARRES1 294 33284.9 8.69 Involved in negative regulation of cell proliferation ["None"] ["21-42"] BC029640 20988599 RARRES1 Chromosome:3 3q25.32 RARRES1 HGNC:9867 true 2020-06-12T23:06:58Z 2020-06-12T23:06:58Z 0 0 0 1675 CDBP01674 Retinoic acid receptor alpha P10276 RARA_HUMAN true false Enzyme Homo_sapiens RARA 462 50770.8 7.95 Involved in sequence-specific DNA binding transcription factor activity This is a receptor for retinoic acid. Retinoic acid has profound effects on vertebrate development, is a morphogen and is a powerful teratogen. This receptor controls cell function by directly regulating gene expression. Regulates expression of target genes in a ligand-dependent manner by recruiting chromatin complexes containing MLL5. Mediates retinoic acid-induced granulopoiesis ["None"] ["None"] X06614 36157 RARA Chromosome:1 17q21 RARA HGNC:9864 true 2020-06-12T23:06:58Z 2020-07-28T02:27:07Z 1 1 1 1676 CDBP01675 Cytochrome P450 26A1 O43174 CP26A_HUMAN false false Metal Binding Homo_sapiens CYP26A1 497 56198.1 8.83 Involved in monooxygenase activity Plays a key role in retinoic acid metabolism. Acts on retinoids, including all-trans-retinoic acid (RA) and its stereoisomer 9-cis-RA. Capable of both 4-hydroxylation and 18- hydroxylation. Responsible for generation of several hydroxylated forms of RA, including 4-OH-RA, 4-oxo-RA and 18-OH-RA ["None"] ["None"] AF005418 2688846 CYP26A1 Chromosome:1 10q23-q24 CYP26A1 HGNC:2603 true 2020-06-12T23:06:58Z 2020-07-28T02:31:57Z 0 1 0 1677 CDBP01676 Lecithin retinol acyltransferase O95237 LRAT_HUMAN true false Enzyme Homo_sapiens LRAT 230 25702.635 7.46 Involved in phosphatidylcholine-retinol O-acyltransfera Transfers the acyl group from the sn-1 position of phosphatidylcholine to all-trans retinol, producing all-trans retinyl esters. Retinyl esters are storage forms of vitamin A. LRAT plays a critical role in vision. It provides the all-trans retinyl ester substrates for the isomerohydrolase which processes the esters into 11-cis-retinol in the retinal pigment epithelium; due to a membrane-associated alcohol dehydrogenase, 11 cis-retinol is oxidized and converted into 11-cis-retinaldehyde which is the chromophore for rhodopsin and the cone photopigments. AF071510 4240391 LRAT 4 4q32.1 LRAT HGNC:6685 true hsa:9227 HS04474-MONOMER NP_004735.2:NM_004744.3 Hepatic stellate cells and endothelial cells (at protein level). Found at high levels in testis and liver, followed by retinal pigment epithelium, small intestine, prostate, pancreas and colon. Low expression observed in brain. In fetal tissues, expressed in retinal pigment epithelium and liver, and barely in the brain. 2020-06-12T23:06:58Z 2020-06-12T23:06:58Z 0 0 0 1678 CDBP01677 Retinoic acid receptor beta P10826 RARB_HUMAN true false Enzyme Homo_sapiens RARB 455 50488.6 7.86 Involved in sequence-specific DNA binding transcription factor activity This is a receptor for retinoic acid. This metabolite has profound effects on vertebrate development. Retinoic acid is a morphogen and is a powerful teratogen. This receptor controls cell function by directly regulating gene expression ["None"] ["None"] 1XDK NM_000965 14916494 RARB Chromosome:3 3p24 RARB HGNC:9865 true 2020-06-12T23:06:58Z 2020-07-28T02:27:07Z 1 1 1 1679 CDBP01678 Retinoic acid receptor RXR-beta P28702 RXRB_HUMAN true false Enzyme Homo_sapiens RXRB 533 56921.4 8.24 Involved in sequence-specific DNA binding transcription factor activity Nuclear hormone receptor. Involved in the retinoic acid response pathway. Binds 9-cis retinoic acid (9C-RA) ["None"] ["None"] 1UHL M84820 337720 RXRB Chromosome:6 6p21.3 RXRB HGNC:10478 true 2020-06-12T23:06:58Z 2020-07-28T02:27:07Z 1 1 1 1680 CDBP01679 Aggrecan core protein P16112 PGCA_HUMAN true false Enzyme Homo_sapiens ACAN 2415 250190.9 3.82 Involved in binding This proteoglycan is a major component of extracellular matrix of cartilagenous tissues. A major function of this protein is to resist compression in cartilage. It binds avidly to hyaluronic acid via an N-terminal globular region ["1-16"] ["None"] NM_013227 256017257 ACAN Chromosome:1 15q26.1 ACAN HGNC:319 true 2020-06-12T23:06:58Z 2020-06-12T23:06:58Z 0 0 0 1681 CDBP01680 Zinc finger protein 24 P17028 ZNF24_HUMAN false false Enzyme Homo_sapiens ZNF24 368 42155.1 6.17 Involved in viral reproduction Transcription factor required for myelination of differentiated oligodendrocytes. Required for the conversion of oligodendrocytes from the premyelinating to the myelinating state. In the developing central nervous system (CNS), involved in the maintenance in the progenitor stage by promoting the cell cycle. Specifically bind to the 5'-TCAT-3' DNA sequence. Has transcription repressor activity in vitro ["None"] ["None"] NM_006965.2 190610012 ZNF24 Chromosome:1 18q12 ZNF24 HGNC:13032 true 2020-06-12T23:06:58Z 2020-07-28T02:33:38Z 0 1 1 1682 CDBP01681 Retinoic acid receptor RXR-gamma P48443 RXRG_HUMAN true false Enzyme Homo_sapiens RXRG 463 50870.7 7.67 Involved in sequence-specific DNA binding transcription factor activity Nuclear hormone receptor. Involved in the retinoic acid response pathway. Binds 9-cis retinoic acid (9C-RA) ["None"] ["None"] U38480 RXRG Chromosome:1 1q22-q23 RXRG HGNC:10479 true 2020-06-12T23:06:58Z 2020-07-28T02:27:08Z 1 1 1 1683 CDBP01682 Cellular retinoic acid-binding protein 1 P29762 RABP1_HUMAN false true Transporter Homo_sapiens CRABP1 137 15565.4 5.03 Involved in binding Cytosolic CRABPs may regulate the access of retinoic acid to the nuclear retinoic acid receptors ["None"] ["None"] 2CBR BC022069 18314500 CRABP1 Chromosome:1 15q24 CRABP1 HGNC:2338 true 2020-06-12T23:06:58Z 2020-06-12T23:06:58Z 0 0 0 1684 CDBP01683 Class E basic helix-loop-helix protein 40 O14503 BHE40_HUMAN false false Transcription Factor Homo_sapiens BHLHE40 412 45509.6 8.22 Involved in transcription regulator activity May function as a transcriptional factor to modulate chondrogenesis in response to the cAMP pathway ["None"] ["None"] AB004066 2308997 BHLHE40 Chromosome:3 3p26 BHLHE40 HGNC:1046 true 2020-06-12T23:06:58Z 2020-07-28T02:32:06Z 0 0 1 1685 CDBP01684 Retinoic acid receptor RXR-alpha P19793 RXRA_HUMAN true false Enzyme Homo_sapiens RXRA 462 50810.8 7.86 Involved in sequence-specific DNA binding transcription factor activity Nuclear hormone receptor. Involved in the retinoic acid response pathway. Binds 9-cis retinoic acid (9C-RA). ARF6 acts as a key regulator of the tissue-specific adipocyte P2 (aP2) enhancer ["None"] ["None"] 1LBD X52773 35885 RXRA Chromosome:9 9q34.3 RXRA HGNC:10477 true 2020-06-12T23:06:58Z 2020-07-28T02:27:08Z 1 1 1 1686 CDBP01685 Cellular retinoic acid-binding protein 2 P29373 RABP2_HUMAN false true Transporter Homo_sapiens CRABP2 138 15692.9 5.07 Involved in binding Transports retinoic acid to the nucleus. Regulates the access of retinoic acid to the nuclear retinoic acid receptors ["None"] ["None"] 3CBS AK312007 189065222 CRABP2 Chromosome:1 1q21.3 CRABP2 HGNC:2339 true 2020-06-12T23:06:58Z 2020-06-12T23:06:58Z 0 0 0 1687 CDBP01686 Vinexin O60504 VINEX_HUMAN true false Enzyme Homo_sapiens SORBS3 671 75328.4 9.87 Involved in structural constituent of cytoskeleton Vinexin alpha isoform promotes up-regulation of actin stress fiber formation. Vinexin beta isoform plays a role in cell spreading and enhances the activation of JNK/SAPK in response to EGF stimulation by using its third SH3 domain ["None"] ["None"] NM_005775.4 155030230 SORBS3 Chromosome:8 8p21.3 SORBS3 HGNC:30907 true 2020-06-12T23:06:58Z 2020-06-12T23:06:58Z 0 0 0 1688 CDBP01687 Pantetheinase O95497 VNN1_HUMAN true false Enzyme Homo_sapiens VNN1 513 57011.16 5.554 Involved in hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides Amidohydrolase that hydrolyzes specifically one of the carboamide linkages in D-pantetheine thus recycling pantothenic acid (vitamin B5) and releasing cysteamine. AJ132099 4128047 VNN1 6 6q23-q24 VNN1 HGNC:12705 true hsa:8876 NP_004657.2:NM_004666.2 Widely expressed with higher expression in spleen, kidney and blood. Overexpressed in lesional psoriatic skin. 2020-06-12T23:06:58Z 2020-06-12T23:06:58Z 0 0 0 1689 CDBP01688 Delta(24)-sterol reductase Q15392 DHC24_HUMAN true false Enzyme Homo_sapiens DHCR24 516 60100.805 8.158 Energy production and conversion Catalyzes the reduction of the delta-24 double bond of sterol intermediates. Protects cells from oxidative stress by reducing caspase 3 activity during apoptosis induced by oxidative stress. Also protects against amyloid-beta peptide-induced apoptosis. AF261758 10442025 DHCR24 1 1p32.3 HGNC:2859 true hsa:1718 NP_055577.1:NM_014762.3 Highly expressed in brain and adrenal gland with moderate expression in liver, lung, spleen, prostate and spinal cord. Low expression in heart, uterus and prostate. Undetectable in blood cells. In the brain, strongly expressed in cortical regions, substantia nigra, caudate nucleus, hippocampus, medulla oblongata and pons. In brains affected by Alzheimer disease, expression in the inferior temporal lobe is substantially lower than in the frontal cortex. FAD 2020-06-12T23:06:58Z 2020-07-28T02:27:08Z 0 0 0 1690 CDBP01689 Histone H2A type 1-C Q93077 H2A1C_HUMAN false false Enzyme Homo_sapiens HIST1H2AC 130 14105.4 11.66 Involved in DNA binding Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling ["None"] ["None"] 1EQZ U90551 HIST1H2AC Chromosome:6 6p21.3 HIST1H2AC HGNC:4733 true 2020-06-12T23:06:58Z 2020-07-28T02:33:38Z 0 0 0 1691 CDBP01690 Histone H2A type 1-J Q99878 H2A1J_HUMAN false false Enzyme Homo_sapiens HIST1H2AJ 128 13936.2 11.53 Involved in DNA binding Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling ["None"] ["None"] 1EQZ BC066232 42542673 HIST1H2AJ Chromosome:6 6p22.1 HIST1H2AJ HGNC:4727 true 2020-06-12T23:06:58Z 2020-07-28T02:33:38Z 0 0 0 1692 CDBP01691 Histone H2A type 1-D P20671 H2A1D_HUMAN false false Enzyme Homo_sapiens HIST1H2AD 130 14107.4 11.55 Involved in DNA binding Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling ["None"] ["None"] 1EQZ CR541970 49456895 HIST1H2AD Chromosome:6 6p21.3 HIST1H2AD HGNC:4729 true 2020-06-12T23:06:58Z 2020-07-28T02:33:38Z 0 0 0 1693 CDBP01692 Ras-related protein Rab-1A P62820 RAB1A_HUMAN false false Enzyme Homo_sapiens RAB1A 205 22677.6 6.0 Involved in GTP binding Probably required for transit of protein from the ER through Golgi compartment. Binds GTP and GDP and possesses intrinsic GTPase activity ["None"] ["None"] AF498929 20379034 RAB1A Chromosome:2 2p14 RAB1A HGNC:9758 true 2020-06-12T23:06:58Z 2020-07-28T02:33:38Z 0 0 0 1694 CDBP01693 Histone H2A type 2-C Q16777 H2A2C_HUMAN false false Enzyme Homo_sapiens HIST2H2AC 129 13988.3 11.55 Involved in DNA binding Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling ["None"] ["None"] 1EQZ BC060324 37994721 HIST2H2AC Chromosome:1 1q21.2 HIST2H2AC HGNC:4738 true 2020-06-12T23:06:58Z 2020-07-28T02:33:38Z 0 0 0 1695 CDBP01694 Very long-chain acyl-CoA synthetase O14975 S27A2_HUMAN true true Enzyme Homo_sapiens SLC27A2 620 64614.99 8.48 Involved in catalytic activity Acyl-CoA synthetase probably involved in bile acid metabolism. Proposed to activate C27 precurors of bile acids to their CoA thioesters derivatives before side chain cleavage via peroxisomal beta-oxidation occurs. In vitro, activates 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanate (THCA), the C27 precursor of cholic acid deriving from the de novo synthesis from cholesterol. Does not utilize C24 bile acids as substrates. In vitro, also activates long- and branched-chain fatty acids and may have additional roles in fatty acid metabolism. May be involved in translocation of long-chain fatty acids (LFCA) across membranes (By similarity). NM_003645.3 227499619 SLC27A2 15 15q21.2 SLC27A2 HGNC:10996 true hsa:11001 HS06695-MONOMER NP_001153101.1:NM_001159629.1;NP_003636.2:NM_003645.3 Expressed in liver, kidney, placenta and pancreas. 2020-06-12T23:06:58Z 2020-07-28T02:27:08Z 0 0 0 1696 CDBP01695 Ammonium transporter Rh type A Q02094 RHAG_HUMAN true true Enzyme Homo_sapiens RHAG 409 44197.55 6.847 Involved in ammonium transmembrane transporter activity Associated with rhesus blood group antigen expression. May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane. AF031548 2909819 RHAG 6 6p12.3 RHAG HGNC:10006 true hsa:6005 NP_000315.2:NM_000324.2 Erythrocytes. Heterotetramer 2020-06-12T23:06:58Z 2020-07-28T02:27:08Z 0 0 0 1697 CDBP01696 Prostaglandin F2-alpha receptor P43088 PF2R_HUMAN false false Receptor Homo_sapiens PTGFR 359 40054.1 9.11 Involved in G-protein coupled receptor protein signaling pathway Receptor for prostaglandin F2-alpha (PGF2-alpha). The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. Initiates luteolysis in the corpus luteum ["None"] ["32-54", "70-90", "110-131", "153-175", "199-224", "251-267", "286-307"] L24470 PTGFR Chromosome:1 1p31.1 PTGFR HGNC:9600 true 2020-06-12T23:06:58Z 2020-07-28T02:27:08Z 1 0 0 1698 CDBP01697 Glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial O75879 GATB_HUMAN true false Enzyme Homo_sapiens PET112 557 61863.57 8.631 Involved in carbon-nitrogen ligase activity, with glutamine as amido-N-donor Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln). AF026851 PET112L 4 4q31.3 PET112L HGNC:8849 true hsa:5188 NP_004555.1:NM_004564.2 Predominantly expressed in tissues characterized by high rates of oxidative phosphorylation (OxPhos), including muscle and heart. Subunit of the heterotrimeric GatCAB amidotransferase (AdT) complex, composed of A (QRSL1), B (PET112) and C (GATC) subunits 2020-06-12T23:06:58Z 2020-06-12T23:06:58Z 0 0 0 1699 CDBP01698 Splicing factor, proline- and glutamine-rich P23246 SFPQ_HUMAN false false Enzyme Homo_sapiens SFPQ 707 76149.1 9.95 Involved in nucleotide binding DNA- and RNA binding protein, involved in several nuclear processes. Essential pre-mRNA splicing factor required early in spliceosome formation and for splicing catalytic step II, probably as an heteromer with NONO. Binds to pre-mRNA in spliceosome C complex, and specifically binds to intronic polypyrimidine tracts. Interacts with U5 snRNA, probably by binding to a purine-rich sequence located on the 3' side of U5 snRNA stem 1b. May be involved in a pre-mRNA coupled splicing and polyadenylation process as component of a snRNP-free complex with SNRPA/U1A. The SFPQ-NONO heteromer associated with MATR3 may play a role in nuclear retention of defective RNAs. SFPQ may be involved in homologous DNA pairing; in vitro, promotes the invasion of ssDNA between a duplex DNA and produces a D-loop formation. The SFPQ-NONO heteromer may be involved in DNA unwinding by modulating the function of topoisomerase I/TOP1; in vitro, stimulates dissociation of TOP1 from DNA after cleavage and enhances its jumping between separate DNA helices. The SFPQ-NONO heteromer may be involved in DNA nonhomologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination and may stabilize paired DNA ends; in vitro, the complex strongly stimulates DNA end joining, binds directly to the DNA substrates and cooperates with the Ku70/G22P1-Ku80/XRCC5 (Ku) dimer to establish a functional preligation complex. SFPQ is involved in transcriptional regulation. Transcriptional repression is probably mediated by an interaction of SFPQ with SIN3A and subsequent recruitment of histone deacetylases (HDACs). The SFPQ-NONO/SF-1 complex binds to the CYP17 promoter and regulates basal and cAMP- dependent transcriptional avtivity. SFPQ isoform Long binds to the DNA binding domains (DBD) of nuclear hormone receptors, like RXRA and probably THRA, and acts as transcriptional corepressor in absence of hormone ligands. Binds the DNA sequence 5'-CTGAGTC-3' in the insulin-like growth factor response element (IGFRE) and inhibits IGF-I-stimulated transcriptional activity ["None"] ["None"] AL590434 55960496 SFPQ Chromosome:1 1p34.3 SFPQ HGNC:10774 true 2020-06-12T23:06:58Z 2020-07-28T02:33:38Z 0 0 0 1700 CDBP01699 Fibrinogen gamma chain P02679 FIBG_HUMAN true false Enzyme Homo_sapiens FGG 453 51511.3 5.32 Involved in receptor binding Fibrinogen has a double function:yielding monomers that polymerize into fibrin and acting as a cofactor in platelet aggregation ["1-26"] ["None"] NM_021870.2 70906439 FGG Chromosome:4 4q28 FGG HGNC:3694 true 2020-06-12T23:06:58Z 2020-07-28T02:27:09Z 1 0 0 1701 CDBP01700 Neutral amino acid transporter B(0) Q15758 AAAT_HUMAN false true Transporter Homo_sapiens SLC1A5 541 56597.6 5.14 Involved in sodium:dicarboxylate symporter activity Has a broad substrate specificity, a preference for zwitterionic amino acids, and a sodium-dependence. It accepts as substrates all neutral amino acids, including glutamine, asparagine, and branched-chain and aromatic amino acids, and excludes methylated amino acids, anionic amino acids, and cationic amino acids. Act as a cell surface receptor for feline endogenous virus RD114, baboon M7 endogenous virus and type D simian retroviruses ["None"] ["53-73", "99-119", "133-153", "225-245", "266-286", "306-326", "336-356", "377-397", "399-419", "426-446"] AF102826 4191556 SLC1A5 Chromosome:1 19q13.3 SLC1A5 HGNC:10943 true 2020-06-12T23:06:58Z 2020-06-12T23:06:58Z 0 0 0 1702 CDBP01701 Superoxide dismutase [Mn], mitochondrial P04179 SODM_HUMAN true false Enzyme Homo_sapiens SOD2 222 24750.015 8.256 Involved in superoxide dismutase activity Destroys superoxide anion radicals which are normally produced within the cells and which are toxic to biological systems. 1AP5;1AP6;1EM1;1JA8;1LUV;1LUW;1MSD;1N0J;1N0N;1PL4;1PM9;1QNM;1SZX;1VAR;1XDC;1XIL;1ZSP;1ZTE;1ZUQ;2ADP;2ADQ;2GDS;2P4K;2QKA;2QKC;3C3S;3C3T X59445 34709 SOD2 6 6q25.3 SOD2 HGNC:11180 true hsa:6648 NP_000627.2:NM_000636.2;NP_001019636.1:NM_001024465.1;NP_001019637.1:NM_001024466.1 manganese ion Homotetramer 2020-06-12T23:06:58Z 2020-07-28T02:27:09Z 0 1 1 1703 CDBP01702 Oxytocin receptor P30559 OXYR_HUMAN false false Receptor Homo_sapiens OXTR 389 42771.0 9.88 Involved in G-protein coupled receptor protein signaling pathway Receptor for oxytocin. The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol- calcium second messenger system ["None"] ["39-63", "75-97", "114-135", "155-175", "203-225", "276-294", "310-332"] X64878 34765 OXTR Chromosome:3 3p25 OXTR HGNC:8529 true 2020-06-12T23:06:58Z 2020-07-28T02:27:09Z 1 0 0 1704 CDBP01703 GTPase HRas P01112 RASH_HUMAN true false Enzyme Homo_sapiens HRAS 189 21298.0 4.94 Involved in GTP binding Ras proteins bind GDP/GTP and possess intrinsic GTPase activity ["None"] ["None"] 4Q21 AF493916 20147725 HRAS Chromosome:1 11p15.5 HRAS HGNC:5173 true 2020-06-12T23:06:58Z 2020-07-28T02:27:09Z 0 0 0 1705 CDBP01704 Transforming protein RhoA P61586 RHOA_HUMAN false false Enzyme Homo_sapiens RHOA 193 21767.9 5.89 Involved in GTP binding Regulates a signal transduction pathway linking plasma membrane receptors to the assembly of focal adhesions and actin stress fibers. Serves as a target for the yopT cysteine peptidase from Yersinia pestis, vector of the plague, and Yersinia pseudotuberculosis, which causes gastrointestinal disorders. May be an activator of PLCE1. Activated by ARHGEF2, which promotes the exchange of GDP for GTP ["None"] ["None"] 1X86 X05026 36030 RHOA Chromosome:3 3p21.3 RHOA HGNC:667 true 2020-06-12T23:06:58Z 2020-07-28T02:33:38Z 0 0 0 1706 CDBP01705 GTP cyclohydrolase 1 feedback regulatory protein P30047 GFRP_HUMAN true false Enzyme Homo_sapiens GCHFR 84 9698.2 6.51 Involved in protein binding Mediates tetrahydrobiopterin inhibition of GTP cyclohydrolase 1. This inhibition is reversed by L-phenylalanine ["None"] ["None"] 1IS8 AK311872 189053191 GCHFR Chromosome:1 15q15 GCHFR HGNC:4194 true 2020-06-12T23:06:58Z 2020-07-28T02:27:09Z 0 0 0 1707 CDBP01706 ADP-ribosylation factor 1 P84077 ARF1_HUMAN false false Enzyme Homo_sapiens ARF1 181 20696.6 6.8 Involved in GTP binding GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP- ribosyltransferase. Involved in protein trafficking among different compartments. Modulates vesicle budding and uncoating within the Golgi complex. Deactivation induces the redistribution of the entire Golgi complex to the endoplasmic reticulum, suggesting a crucial role in protein trafficking. In its GTP-bound form, its triggers the association with coat proteins with the Golgi membrane. The hydrolysis of ARF1-bound GTP, which is mediated by ARFGAPs proteins, is required for dissociation of coat proteins from Golgi membranes and vesicles ["None"] ["None"] 1R8Q M36340 ARF1 Chromosome:1 1q42 ARF1 HGNC:652 true 2020-06-12T23:06:58Z 2020-07-28T02:33:38Z 0 0 0 1708 CDBP01707 Ras-related protein Rap-1A P62834 RAP1A_HUMAN false false Enzyme Homo_sapiens RAP1A 184 20987.1 6.55 Involved in GTP binding Induces morphological reversion of a cell line transformed by a Ras oncogene. Counteracts the mitogenic function of Ras, at least partly because it can interact with Ras GAPs and RAF in a competitive manner ["None"] ["None"] 1C1Y AF493912 20147717 RAP1A Chromosome:1 1p13.3 RAP1A HGNC:9855 true 2020-06-12T23:06:58Z 2020-07-28T02:33:38Z 0 0 0 1709 CDBP01708 Rho-related GTP-binding protein RhoQ P17081 RHOQ_HUMAN false false Enzyme Homo_sapiens RHOQ 205 22659.3 6.25 Involved in GTP binding Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses. Involved in epithelial cell polarization processes. May play a role in CFTR trafficking to the plasma membrane. Causes the formation of thin, actin-rich surface projections called filopodia ["None"] ["None"] AC018682 62822285 RHOQ Chromosome:2 2p21 RHOQ HGNC:17736 true 2020-06-12T23:06:58Z 2020-07-28T02:33:38Z 0 0 0 1710 CDBP01709 Breakpoint cluster region protein P11274 BCR_HUMAN false false Enzyme Homo_sapiens BCR 1271 142818.1 7.03 Involved in protein serine/threonine kinase activity GTPase-activating protein for RAC1 and CDC42. Promotes the exchange of RAC or CDC42-bound GDP by GTP, thereby activating them. Displays serine/threonine kinase activity ["None"] ["None"] 1K1F NM_004327.3 82546843 BCR Chromosome:2 22q11|22q11.23 BCR HGNC:1014 true 2020-06-12T23:06:58Z 2020-07-28T02:33:38Z 0 0 0 1711 CDBP01710 Phospholipid scramblase 1 O15162 PLS1_HUMAN true false Enzyme Homo_sapiens PLSCR1 318 35048.8 4.57 Involved in calcium ion binding May play a role in the antiviral response of interferon (IFN) by amplifying and enhancing the IFN response through increased expression of select subset of potent antiviral genes. May contribute to cytokine-regulated cell proliferation and differentiation ["None"] ["289-305"] AB006746 3510297 PLSCR1 Chromosome:3 3q23 PLSCR1 HGNC:9092 true 2020-06-12T23:06:58Z 2020-07-28T02:27:09Z 0 0 0 1712 CDBP01711 Enhancer of filamentation 1 Q14511 CASL_HUMAN false false Enzyme Homo_sapiens NEDD9 834 92860.2 6.69 Involved in protein binding Docking protein which plays a central coordinating role for tyrosine-kinase-based signaling related to cell adhesion. May function in transmitting growth control signals between focal adhesions at the cell periphery and the mitotic spindle in response to adhesion or growth factor signals initiating cell proliferation. May play an important role in integrin beta-1 or B cell antigen receptor (BCR) mediated signaling in B- and T-cells. Integrin beta-1 stimulation leads to recruitment of various proteins including CRK, NCK and SHPTP2 to the tyrosine phosphorylated form ["None"] ["None"] AL136139 56204218 NEDD9 Chromosome:6 6p25-p24 NEDD9 HGNC:7733 true 2020-06-12T23:06:58Z 2020-07-28T02:33:38Z 0 0 0 1713 CDBP01712 Histone-lysine N-methyltransferase MLL Q03164 MLL1_HUMAN true true Enzyme Homo_sapiens MLL 3969 432047.735 9.072 Involved in DNA binding Histone methyltransferase that plays an essential role in early development and hematopoiesis. Catalytic subunit of the MLL1/MLL complex, a multiprotein complex that mediates both methylation of 'Lys-4' of histone H3 (H3K4me) complex and acetylation of 'Lys-16' of histone H4 (H4K16ac). In the MLL1/MLL complex, it specifically mediates H3K4me, a specific tag for epigenetic transcriptional activation. Has weak methyltransferase activity by itself, and requires other component of the MLL1/MLL complex to obtain full methyltransferase activity. Has no activity toward histone H3 phosphorylated on 'Thr-3', less activity toward H3 dimethylated on 'Arg-8' or 'Lys-9', while it has higher activity toward H3 acetylated on 'Lys-9'. Required for transcriptional activation of HOXA9. Promotes PPP1R15A-induced apoptosis. 2AGH;2J2S;2JYI;2KKF;2KU7;2KYU;2W5Y;2W5Z;3EG6;3EMH;3LQH;3LQI;3LQJ;3P4F;3U85;3U88;4ESG;4GQ6 AY373585 34305635 MLL 11 11q23 MLL HGNC:7132 true hsa:4297 NP_001184033.1:NM_001197104.1;NP_005924.2:NM_005933.3 Heart, lung, brain and T- and B-lymphocytes. MLL cleavage product N320 heterodimerizes with MLL cleavage product C180 (via SET and FYRC domains). Component of some MLL1/MLL complex, at least composed of the core components MLL, ASH2L, HCFC1/HCF1, HCFC2, WDR5, DPY30 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MEN1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Interacts with WDR5; the interaction is direct. Interacts with KAT8/MOF; the interaction is direct. Interacts with SBF1 and PPP1R15A 2020-06-12T23:06:58Z 2020-07-28T02:27:09Z 0 1 1 1714 CDBP01713 P-selectin glycoprotein ligand 1 Q14242 SELPL_HUMAN false false Enzyme Homo_sapiens SELPLG 412 43201.0 4.06 Replication, recombination and repair A SLe(x)-type glycan, which through high affinity, calcium-dependent interactions with E-, P- and L-selectins, mediates rapid rolling of leukocytes over vascular surfaces during the initial steps in inflammation. PSGL1 is critical for the initial leukocyte capture ["1-17"] ["321-341"] AK298738 194385012 SELPLG Chromosome:1 12q24 SELPLG HGNC:10722 true 2020-06-12T23:06:58Z 2020-07-28T02:33:38Z 0 0 0 1715 CDBP01714 Tenascin-R Q92752 TENR_HUMAN false false Receptor Homo_sapiens TNR 1358 149546.7 4.44 Involved in receptor binding Neural extracellular matrix (ECM) protein involved in interactions with different cells and matrix components. These interactions can influence cellular behavior by either evoking a stable adhesion and differentiation, or repulsion and inhibition of neurite growth. Binding to cell surface gangliosides inhibits RGD-dependent integrin-mediated cell adhesion and results in an inhibition of PTK2 (FAK) phosphorylation and cell detachment. Binding to membrane surface sulfatides results in a oligodendrocyte adhesion and differentiation. Interaction with CNTN1 induces a repulsion of neurons and an inhibition of neurite outgrowth. Interacts with SCN2B may play a crucial role in clustering and regulation of activity of sodium channels at nodes of Ranvier. TNR-linked chondroitin sulfate glycosaminoglycans are involved in the interaction with FN1 and mediate inhibition of cell adhesion and neurite outgrowth. The highly regulated addition of sulfated carbohydrate structure may modulate the adhesive properties of TNR over the course of development and during synapse maintenance ["1-31"] ["None"] 1TDQ X98085 1617316 TNR Chromosome:1 1q24 TNR HGNC:11953 true 2020-06-12T23:06:58Z 2020-07-28T02:32:16Z 1 0 0 1716 CDBP01715 Glycophorin-B P06028 GLPB_HUMAN true false Enzyme Homo_sapiens GYPB 91 9795.6 9.73 This protein is a minor sialoglycoprotein in erythrocyte membranes ["1-19"] ["60-81"] AY950609 61696948 GYPB Chromosome:4 4q28-q31 GYPB HGNC:4703 true 2020-06-12T23:06:58Z 2020-06-12T23:06:58Z 0 0 0 1717 CDBP01716 Plasminogen P00747 PLMN_HUMAN true false Enzyme Homo_sapiens PLG 810 90568.4 7.25 Involved in serine-type endopeptidase activity Angiostatin is an angiogenesis inhibitor that blocks neovascularization and growth of experimental primary and metastatic tumors in vivo ["1-19"] ["None"] 1KI0 X05199 35531 PLG Chromosome:6 6q26 PLG HGNC:9071 true 2020-06-12T23:06:58Z 2020-06-12T23:06:58Z 0 0 0 1718 CDBP01717 Apolipoprotein E P02649 APOE_HUMAN true false Enzyme Homo_sapiens APOE 317 36153.8 5.42 Involved in lipid binding Mediates the binding, internalization, and catabolism of lipoprotein particles. It can serve as a ligand for the LDL (apo B/E) receptor and for the specific apo-E receptor (chylomicron remnant) of hepatic tissues ["1-18"] ["None"] 1NFN M12529 178849 APOE Chromosome:1 19q13.2 APOE HGNC:613 true 2020-06-12T23:06:58Z 2020-06-12T23:06:58Z 0 0 0 1719 CDBP01718 Apolipoprotein C-III precursor P02656 APOC3_HUMAN false true Transporter Homo_sapiens APOC3 99 10852.0 5.04 Inhibits lipoprotein lipase and hepatic lipase and decreases the uptake of lymph chylomicrons by hepatic cells. This suggests that it delays the catabolism of triglyceride-rich particles ["1-20"] J00098 178768 APOC3 Chromosome:11 11q23.1-q23.2 APOC3 HGNC:610 true 2020-06-12T23:06:58Z 2020-06-12T23:06:58Z 0 0 0 1720 CDBP01719 Voltage-dependent L-type calcium channel subunit alpha-1D Q01668 CAC1D_HUMAN false true Enzyme Homo_sapiens CACNA1D 2161 245138.8 6.73 Involved in ion channel activity Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1D gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin- GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA) ["None"] ["127-145", "164-183", "196-214", "236-254", "274-293", "382-406", "524-543", "559-577", "586-604", "615-633", "653-673", "728-752", "887-905", "922-941", "954-972", "979-998", "1018-1037", "1128-1148", "1206-1224", "1240-1259", "1267-1288", "1314-1333", "1353-1372", "1440-1464"] 1VYT NM_001128840.1 192807300 CACNA1D Chromosome:3 3p14.3 CACNA1D HGNC:1391 true 2020-06-12T23:06:58Z 2020-07-28T02:33:38Z 0 1 0 1721 CDBP01720 Amyloid beta A4 protein P05067 A4_HUMAN false false Enzyme Homo_sapiens APP 770 86942.7 4.45 Involved in binding N-APP binds TNFRSF21 triggering caspase activation and degeneration of both neuronal cell bodies (via caspase-3) and axons (via caspase-6) ["1-17"] ["700-723"] 1RW6 NM_000484.3 4502167 APP Chromosome:2 21q21.2|21q21.3 APP HGNC:620 true 2020-06-12T23:06:58Z 2020-07-28T02:33:38Z 0 0 0 1722 CDBP01721 Transient receptor potential cation channel subfamily M member 2 O94759 TRPM2_HUMAN false true Receptor Homo_sapiens TRPM2 1503 171224.9 7.566 Involved in ion channel activity Nonselective, voltage-independent cation channel mediating sodium and calcium ion influx in response to oxidative stress. Extracellular calcium passes through the channel and acts from the intracellular side as a positive regulator in channel activation. Activated by ADP-ribose, nicotinamide adenine dinucleotide (NAD(+)), reactive nitrogen species and arachidonic acid. Inactivated by intracellular ATP. Confers susceptibility to cell death following oxidative stress. Isoform 2 does not seem to be regulated by ADPR. Has ADP-ribose pyrophosphatase activity. AB001535 3928756 TRPM2 21 21q22.3 TRPM2 HGNC:12339 true hsa:7226 NP_003298.1:NM_003307.3 Highly expressed in brain and peripheral blood cells, such as neutrophils. Also detected in bone marrow, spleen, heart, liver and lung. Isoform 2 is found in neutrophil granulocytes. Isoform 1 can interact with isoform 3. This interaction decreases calcium influx through isoform 1 and suppresses susceptibility to oxidative stress-induced cell death 2020-06-12T23:06:58Z 2020-07-28T02:27:10Z 1 0 0 1723 CDBP01722 Transcobalamin-1 P20061 TCO1_HUMAN false true Transporter Homo_sapiens TCN1 433 48206.3 4.68 Involved in cobalamin binding Vitamin B12-binding protein. Transports cobalamin into cells ["1-23"] ["None"] J05068 307479 TCN1 Chromosome:1 11q11-q12 TCN1 HGNC:11652 true 2020-06-12T23:06:59Z 2020-06-12T23:06:59Z 0 0 0 1724 CDBP01723 Gastric intrinsic factor P27352 IF_HUMAN false true Transporter Homo_sapiens GIF 417 45415.7 6.04 Involved in cobalamin binding Promotes absorption of the essential vitamin cobalamin (Cbl) in the ileum by specific receptor-mediated endocytosis ["1-18"] ["None"] BC037958 23958689 GIF Chromosome:1 11q13 GIF HGNC:4268 true 2020-06-12T23:06:59Z 2020-06-12T23:06:59Z 0 0 0 1725 CDBP01724 Vitamin K-dependent protein C P04070 PROC_HUMAN false false Metal Binding Homo_sapiens PROC 461 52070.8 6.23 Involved in calcium ion binding Protein C is a vitamin K-dependent serine protease that regulates blood coagulation by inactivating factors Va and VIIIa in the presence of calcium ions and phospholipids ["1-32"] ["None"] 1AUT X02750 763120 PROC Chromosome:2 2q13-q14 PROC HGNC:9451 true 2020-06-12T23:06:59Z 2020-07-28T02:31:57Z 0 1 0 1726 CDBP01725 Vitamin K-dependent protein S P07225 PROS_HUMAN true false Enzyme Homo_sapiens PROS1 676 75121.9 5.37 Involved in calcium ion binding Anticoagulant plasma protein; it is a cofactor to activated protein C in the degradation of coagulation factors Va and VIIIa. It helps to prevent coagulation and stimulating fibrinolysis ["1-24"] ["None"] Y00692 36579 PROS1 Chromosome:3 3q11.2 PROS1 HGNC:9456 true 2020-06-12T23:06:59Z 2020-07-28T02:27:10Z 0 1 0 1727 CDBP01726 Vitamin K-dependent protein Z P22891 PROZ_HUMAN true false Enzyme Homo_sapiens PROZ 400 44743.6 5.87 Involved in calcium ion binding Appears to assist hemostasis by binding thrombin and promoting its association with phospholipid vesicles ["1-23"] ["None"] M55670 PROZ Chromosome:1 13q34 PROZ HGNC:9460 true 2020-06-12T23:06:59Z 2020-07-28T02:27:10Z 0 1 0 1728 CDBP01727 Osteocalcin P02818 OSTCN_HUMAN false false Metal Binding Homo_sapiens BGLAP 100 10962.4 7.18 Involved in regulation of bone mineralization Constitutes 1-2% of the total bone protein. It binds strongly to apatite and calcium ["1-23"] ["None"] X53698 36093 BGLAP Chromosome:1 1q25-q31 BGLAP HGNC:1043 true 2020-06-12T23:06:59Z 2020-07-28T02:31:57Z 0 1 0 1729 CDBP01728 Zinc-alpha-2-glycoprotein P25311 ZA2G_HUMAN true false Enzyme Homo_sapiens AZGP1 298 34258.5 5.93 Involved in immune response Stimulates lipid degradation in adipocytes and causes the extensive fat losses associated with some advanced cancers. May bind polyunsaturated fatty acids ["1-20"] ["None"] 1T80 NM_001185.3 4502337 AZGP1 Chromosome:7 7q22.1 AZGP1 HGNC:910 true 2020-06-12T23:06:59Z 2020-06-12T23:06:59Z 0 0 0 1730 CDBP01729 Lactotransferrin P02788 TRFL_HUMAN false false Metal Binding Homo_sapiens LTF 710 78181.2 8.17 Involved in ferric iron binding The lactotransferrin transferrin-like domain 1 functions as a serine protease of the peptidase S60 family that cuts arginine rich regions. This function contributes to the antimicrobial activity ["1-19"] ["None"] 1CB6 NM_002343.2 54607120 LTF Chromosome:3 3p21.31 LTF HGNC:6720 true 2020-06-12T23:06:59Z 2020-07-28T02:31:57Z 0 1 0 1731 CDBP01730 Coagulation factor X P00742 FA10_HUMAN false false Metal Binding Homo_sapiens F10 488 54731.3 5.74 Involved in calcium ion binding Factor Xa is a vitamin K-dependent glycoprotein that converts prothrombin to thrombin in the presence of factor Va, calcium and phospholipid during blood clotting ["1-31"] ["None"] 1P0S AF503510 20336663 F10 Chromosome:1 13q34 F10 HGNC:3528 true 2020-06-12T23:06:59Z 2020-07-28T02:31:57Z 0 1 0 1732 CDBP01731 Growth arrest-specific protein 6 Q14393 GAS6_HUMAN false false Metal Binding Homo_sapiens GAS6 721 79675.8 6.15 Involved in calcium ion binding Ligand for tyrosine-protein kinase receptors AXL, TYRO3 and MER whose signaling is implicated in cell growth and survival, cell adhesion and cell migration. Plays a role in thrombosis by amplifying platelet aggregation and secretion in response to known agonists ["1-30"] ["None"] 221316738 GAS6 Chromosome:1 13q34 GAS6 HGNC:4168 true 2020-06-12T23:06:59Z 2020-07-28T02:31:57Z 0 1 0 1733 CDBP01732 Coagulation factor VII P08709 FA7_HUMAN false false Metal Binding Homo_sapiens F7 466 51593.5 7.23 Involved in calcium ion binding Initiates the extrinsic pathway of blood coagulation. Serine protease that circulates in the blood in a zymogen form. Factor VII is converted to factor VIIa by factor Xa, factor XIIa, factor IXa, or thrombin by minor proteolysis. In the presence of tissue factor and calcium ions, factor VIIa then converts factor X to factor Xa by limited proteolysis. Factor VIIa will also convert factor IX to factor IXa in the presence of tissue factor and calcium ["1-20"] ["None"] 1Z6J AF466933 18251978 F7 Chromosome:1 13q34 F7 HGNC:3544 true 2020-06-12T23:06:59Z 2020-07-28T02:31:57Z 0 1 0 1734 CDBP01733 Molybdopterin synthase sulfur carrier subunit O96033 MOC2A_HUMAN true false Enzyme Homo_sapiens MOCS2 88 9755.235 4.702 Involved in Mo-molybdopterin cofactor biosynthetic process Acts as a sulfur carrier required for molybdopterin biosynthesis. Component of the molybdopterin synthase complex that catalyzes the conversion of precursor Z into molybdopterin by mediating the incorporation of 2 sulfur atoms into precursor Z to generate a dithiolene group. In the complex, serves as sulfur donor by being thiocarboxylated (-COSH) at its C-terminus by MOCS3. After interaction with MOCS2B, the sulfur is then transferred to precursor Z to form molybdopterin. AF091871 4262372 MOCS2 5 5q11 MOCS2 HGNC:7193 true hsa:4338 MONOMER-16667 NP_789776.1:NM_176806.2 Widely expressed. Highest levels are found in heart and skeletal muscle. Lower levels are present in brain, kidney and pancreas. Very low levels are found in lung and peripheral blood leukocytes. Heterotetramer; composed of 2 small (MOCS2A) and 2 large (MOCS2B) subunits 2020-06-12T23:06:59Z 2020-06-12T23:06:59Z 0 0 0 1735 CDBP01734 Molybdopterin synthase catalytic subunit O96007 MOC2B_HUMAN true false Enzyme Homo_sapiens MOCS2 188 20943.735 5.443 Involved in Mo-molybdopterin cofactor biosynthetic process Catalytic subunit of the molybdopterin synthase complex, a complex that catalyzes the conversion of precursor Z into molybdopterin. Acts by mediating the incorporation of 2 sulfur atoms from thiocarboxylated MOCS2A into precursor Z to generate a dithiolene group. 4AP8 AF091871 4262373 MOCS2 5 5q11 MOCS2 HGNC:7193 true hsa:4338 HS09033-MONOMER NP_004522.1:NM_004531.3 Highest levels are found in heart and skeletal muscle. Lower levels are present in brain, kidney and pancreas. Very low levels are found in lung and peripheral blood leukocytes. Heterotetramer; composed of 2 small (MOCS2A) and 2 large (MOCS2B) subunits 2020-06-12T23:06:59Z 2020-06-12T23:06:59Z 0 0 0 1736 CDBP01735 Adenylyltransferase and sulfurtransferase MOCS3 O95396 MOCS3_HUMAN true false Enzyme Homo_sapiens MOCS3 460 49668.685 6.209 Involved in catalytic activity Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of tRNA(Lys), tRNA(Glu) and tRNA(Gln). Also essential during biosynthesis of the molybdenum cofactor. Acts by mediating the C-terminal thiocarboxylation of sulfur carriers URM1 and MOCS2A. Its N-terminus first activates URM1 and MOCS2A as acyl-adenylates (-COAMP), then the persulfide sulfur on the catalytic cysteine is transferred to URM1 and MOCS2A to form thiocarboxylation (-COSH) of their C-terminus. The reaction probably involves hydrogen sulfide that is generated from the persulfide intermediate and that acts as nucleophile towards URM1 and MOCS2A. Subsequently, a transient disulfide bond is formed. Does not use thiosulfate as sulfur donor; NFS1 probably acting as a sulfur donor for thiocarboxylation reactions. 3I2V AF102544 3851719 MOCS3 20 20q13.13 MOCS3 HGNC:15765 true hsa:27304 HS04742-MONOMER NP_055299.1:NM_014484.4 zinc ion Interacts with NFS1 2020-06-12T23:06:59Z 2020-07-28T02:27:10Z 0 1 0 1737 CDBP01736 Molybdenum cofactor biosynthesis protein 1 Q9NZB8 MOS1A_HUMAN false false Metal Binding Homo_sapiens MOCS1 385 43087.69 9.291 Coenzyme transport and metabolism Isoform MOCS1A and isoform MOCS1B probably form a complex that catalyzes the conversion of 5'-GTP to cyclic pyranopterin monophosphate (cPMP or molybdopterin precursor Z). AF034374 2645879 MOCS1 6 6p21.3 MOCS1 HGNC:7190 true hsa:4337 NP_001068566.1:NM_001075098.3;NP_005934.2:NM_005943.5 Isoform MOCS1A and isoform 2 are widely expressed. 4Fe-4S clusters. Binds 1 4Fe-4S cluster coordinated with 3 cysteines and an exchangeable S-adenosyl-L-methionine and 1 4Fe-4S cluster coordinated with 3 cysteines and the GTP-derived substrate Isoform MOCS1A and isoform MOCS1B probably form a heterooligomer (Probable) 2020-06-12T23:06:59Z 2020-07-28T02:31:57Z 0 1 0 1738 CDBP01737 Glutamate carboxypeptidase 2 Q04609 FOLH1_HUMAN true false Enzyme Homo_sapiens FOLH1 750 84330.0 6.97 Involved in peptidase activity Also exhibits a dipeptidyl-peptidase IV type activity. In vitro, cleaves Gly-Pro-AMC ["None"] ["20-43"] 1Z8L M99487 FOLH1 Chromosome:1 11p11.2 FOLH1 HGNC:3788 true 2020-06-12T23:06:59Z 2020-07-28T02:27:11Z 0 0 0 1739 CDBP01738 Electron transfer flavoprotein subunit beta P38117 ETFB_HUMAN false false Enzyme Homo_sapiens ETFB 255 27843.4 8.31 Involved in electron carrier activity The electron transfer flavoprotein serves as a specific electron acceptor for several dehydrogenases, including five acyl- CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase. It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase) ["None"] ["None"] 1T9G NM_001985.2 4503609 ETFB Chromosome:1 19q13.3 ETFB HGNC:3482 true 2020-06-12T23:06:59Z 2020-07-28T02:33:38Z 0 0 0 1740 CDBP01739 Solute carrier organic anion transporter family member 2B1 O94956 SO2B1_HUMAN false true Transporter Homo_sapiens SLCO2B1 709 76697.9 8.39 Involved in transporter activity Mediates the Na(+)-independent transport of organic anions such as taurocholate, the prostaglandins PGD2, PGE1, PGE2, leukotriene C4, thromboxane B2 and iloprost ["None"] ["118-138", "186-206", "225-245", "277-297", "371-391", "412-432", "443-463", "557-577", "597-617", "651-671"] AB026256 SLCO2B1 Chromosome:1 11q13 SLCO2B1 HGNC:10962 true 2020-06-12T23:06:59Z 2020-06-12T23:06:59Z 0 0 0 1741 CDBP01740 Guanine nucleotide-binding protein G(q) subunit alpha P50148 GNAQ_HUMAN true false Enzyme Homo_sapiens GNAQ 359 42141.7 5.37 Involved in signal transducer activity Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems ["None"] ["None"] U40038 1181671 GNAQ Chromosome:9 9q21 GNAQ HGNC:4390 true 2020-06-12T23:06:59Z 2020-07-28T02:27:11Z 1 0 0 1742 CDBP01741 Thromboxane A2 receptor P21731 TA2R_HUMAN false false Receptor Homo_sapiens TBXA2R 343 37430.7 10.09 Involved in G-protein coupled receptor protein signaling pathway Receptor for thromboxane A2 (TXA2), a potent stimulator of platelet aggregation. The activity of this receptor is mediated by a G-protein that activates a phosphatidylinositol-calcium second messenger system. In the kidney, the binding of TXA2 to glomerular TP receptors causes intense vasoconstriction. Activates phospholipase C. Isoform 1 activates adenylyl cyclase. Isoform 2 inhibits adenylyl cyclase ["None"] ["30-52", "67-87", "107-128", "150-172", "194-219", "247-270", "290-311"] D38081 TBXA2R Chromosome:1 19p13.3 TBXA2R HGNC:11608 true 2020-06-12T23:06:59Z 2020-07-28T02:27:11Z 1 0 0 1743 CDBP01742 Guanine nucleotide-binding protein subunit alpha-11 P29992 GNA11_HUMAN true false Enzyme Homo_sapiens GNA11 359 42122.9 5.38 Involved in signal transducer activity Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Acts as an activator of phospholipase C ["None"] ["None"] AC005262 3289982 GNA11 Chromosome:1 19p13.3 GNA11 HGNC:4379 true 2020-06-12T23:06:59Z 2020-07-28T02:27:11Z 1 0 0 1744 CDBP01743 Free fatty acid receptor 3 O14843 FFAR3_HUMAN false false Receptor Homo_sapiens FFAR3 346 38648.7 7.88 Involved in G-protein coupled receptor protein signaling pathway Receptor for short chain fatty acids. The activity of this receptor is coupled to the formation of inositol 1,4,5- trisphosphate, intracellular Ca2+ mobilization, the activation of ERK 1/2 and inhibition of intracellular cAMP accumulation. Coupled exclusively to the pertussis toxin-sensitive G(i/o)-alpha protein. The rank order of potency for agonists of this receptor is propionate = pentanoate = butyrate > acetate > formate ["None"] ["20-40", "48-68", "91-111", "133-153", "179-199", "223-243", "259-279"] AF024688 2612948 FFAR3 Chromosome:1 19q13.1 FFAR3 HGNC:4499 true 2020-06-12T23:06:59Z 2020-07-28T02:27:11Z 1 0 0 1745 CDBP01744 Free fatty acid receptor 2 O15552 FFAR2_HUMAN false false Receptor Homo_sapiens FFAR2 330 37143.4 9.61 Involved in G-protein coupled receptor protein signaling pathway Receptor for short chain fatty acids through a G(i)- protein-mediated inhibition of adenylyl cyclase and elevation of intracellular calcium. The rank order of potency for agonists of this receptor is acetate= propionate = butyrate > pentanoate = formate ["None"] ["13-33", "42-62", "85-105", "127-147", "174-194", "220-240", "256-276"] AC002511 2347084 FFAR2 Chromosome:1 19q13.1 FFAR2 HGNC:4501 true 2020-06-12T23:06:59Z 2020-07-28T02:27:11Z 1 0 0 1746 CDBP01745 Methylated-DNA--protein-cysteine methyltransferase P16455 MGMT_HUMAN true false Enzyme Homo_sapiens MGMT 207 21645.8 8.23 Involved in methylated-DNA-[protein]-cysteine S-methyltransferase activity Involved in the cellular defense against the biological effects of O6-methylguanine (O6-MeG) in DNA. Repairs alkylated guanine in DNA by stoichiometrically transferring the alkyl group at the O-6 position to a cysteine residue in the enzyme. This is a suicide reaction:the enzyme is irreversibly inactivated ["None"] ["None"] 1EH6 X54228 34559 MGMT Chromosome:1 10q26 MGMT HGNC:7059 true 2020-06-12T23:06:59Z 2020-07-28T02:27:11Z 0 0 0 1747 CDBP01746 Alpha-tocopherol transfer protein P49638 TTPA_HUMAN true true Enzyme Homo_sapiens TTPA 278 31749.3 7.78 Involved in transporter activity Binds alpha-tocopherol and enhances its transfer between separate membranes ["None"] ["None"] 1OIZ D49488 TTPA Chromosome:8 8q12.3 TTPA HGNC:12404 true 2020-06-12T23:06:59Z 2020-07-28T02:27:11Z 0 0 0 1748 CDBP01747 Potassium channel subfamily K member 3 O14649 KCNK3_HUMAN true true Enzyme Homo_sapiens KCNK3 394 43517.7 9.27 Involved in potassium channel activity pH-dependent, voltage-insensitive, background potassium channel protein. Rectification direction results from potassium ion concentration on either side of the membrane. Acts as an outward rectifier when external potassium concentration is low. When external potassium concentration is high, current is inward ["None"] ["9-29", "108-128", "159-179", "223-243"] AF006823 KCNK3 Chromosome:2 2p23 KCNK3 HGNC:6278 true 2020-06-12T23:06:59Z 2020-07-28T02:27:11Z 0 0 0 1749 CDBP01748 Free fatty acid receptor 1 O14842 FFAR1_HUMAN false false Receptor Homo_sapiens FFAR1 300 31456.6 9.75 Involved in G-protein coupled receptor protein signaling pathway Receptor for medium and long chain saturated and unsaturated fatty acids. Binding of the ligand increase intracellular calcium concentration and amplify glucose-stimulated insulin secretion. The activity of this receptor is mediated by G- proteins that activate phospholipase C. Seems to act through a G(q) and G(i)-mediated pathway ["None"] ["11-31", "43-63", "82-102", "124-144", "179-197", "222-242", "259-279"] BC095536 66267335 FFAR1 Chromosome:1 19q13.1 FFAR1 HGNC:4498 true 2020-06-12T23:06:59Z 2020-07-28T02:27:11Z 1 0 0 1750 CDBP01749 Inhibitor of nuclear factor kappa-B kinase subunit alpha O15111 IKKA_HUMAN true false Enzyme Homo_sapiens CHUK 745 84652.9 6.72 Involved in protein kinase activity Acts as part of the IKK complex in the conventional pathway of NF-kappa-B activation and phosphorylates inhibitors of NF-kappa-B thus leading to the dissociation of the inhibitor/NF- kappa-B complex and ultimately the degradation of the inhibitor. As part of the non-canonical pathway of NF-kappa-B activation, the MAP3K14-activated CHUK/IKKA homodimer phosphorylates NFKB2/p100 associated with RelB, inducing its proteolytic processing to NFKB2/p52 and the formation of NF-kappa-B RelB-p52 complexes. Also phosphorylates NCOA3. Phosphorylates 'Ser-10' of histone H3 at NF- kappa-B-regulated promoters during inflammatory responses triggered by cytokines ["None"] ["None"] AF012890 CHUK Chromosome:1 10q24-q25 CHUK HGNC:1974 true 2020-06-12T23:06:59Z 2020-06-12T23:06:59Z 0 0 0 1751 CDBP01750 Canalicular multispecific organic anion transporter 2 O15438 MRP3_HUMAN false true Transporter Homo_sapiens ABCC3 1527 169341.1 7.2 Involved in ATP binding May act as an inducible transporter in the biliary and intestinal excretion of organic anions. Acts as an alternative route for the export of bile acids and glucuronides from cholestatic hepatocytes ["None"] ["33-53", "74-94", "100-120", "133-153", "172-192", "303-323", "350-370", "427-447", "451-471", "534-554", "577-597", "964-984", "1022-1042", "1086-1106", "1108-1128", "1200-1220", "1223-1243"] AB010887 3132270 ABCC3 Chromosome:1 17q22 ABCC3 HGNC:54 true 2020-06-12T23:06:59Z 2020-06-12T23:06:59Z 0 0 0 1752 CDBP01751 Proline dehydrogenase 1, mitochondrial O43272 PROD_HUMAN true false Enzyme Homo_sapiens PRODH 516 56196.675 6.336 Involved in proline dehydrogenase activity Converts proline to delta-1-pyrroline-5-carboxylate. U82381 2677802 PRODH 22 22q11.21 PRODH HGNC:9453 true hsa:5625 HS01958-MONOMER NP_001182155.1:NM_001195226.1;NP_057419.4:NM_016335.4 Expressed in lung, skeletal muscle and brain, to a lesser extent in heart and kidney, and weakly in liver, placenta and pancreas. FAD 2020-06-12T23:06:59Z 2020-07-28T02:27:11Z 0 0 0 1753 CDBP01752 Sodium/nucleoside cotransporter 2 O43868 S28A2_HUMAN false true Transporter Homo_sapiens SLC28A2 658 71925.565 7.949 Involved in nucleoside:sodium symporter activity Sodium-dependent and purine-selective transporter. Exhibits the transport characteristics of the nucleoside transport system cif or N1 subtype (N1/cif) (selective for purine nucleosides and uridine). Plays a critical role in specific uptake and salvage of purine nucleosides in kidney and other tissues. AF036109 2665908 SLC28A2 15 15q15 SLC28A2 HGNC:11002 true hsa:9153 NP_004203.2:NM_004212.3 Expressed in heart and skeletal muscle followed by liver, kidney, intestine, pancreas, placenta and brain. Weak expression in lung. 2020-06-12T23:06:59Z 2020-07-28T02:32:08Z 0 0 0 1754 CDBP01753 Nuclear receptor subfamily 1 group I member 2 O75469 NR1I2_HUMAN true false Enzyme Homo_sapiens NR1I2 434 49761.2 8.44 Involved in sequence-specific DNA binding transcription factor activity Nuclear receptor that binds and is activated by variety of endogenous and xenobiotic compounds. Transcription factor that activates the transcription of multiple genes involved in the metabolism and secretion of potentially harmful xenobiotics, drugs and endogenous compounds. Activated by the antibiotic rifampicin and various plant metabolites, such as hyperforin, guggulipid, colupulone, and isoflavones. Response to specific ligands is species-specific. Activated by naturally occurring steroids, such as pregnenolone and progesterone. Binds to a response element in the promoters of the CYP3A4 and ABCB1/MDR1 genes ["None"] ["None"] 1NRL AY091855 21103960 NR1I2 Chromosome:3 3q12-q13.3 NR1I2 HGNC:7968 true 2020-06-12T23:06:59Z 2020-07-28T02:27:11Z 1 1 1 1755 CDBP01754 Peptidoglycan recognition protein 1 O75594 PGRP1_HUMAN true false Enzyme Homo_sapiens PGLYRP1 196 Involved in N-acetylmuramoyl-L-alanine amidase activity Pattern receptor that binds to murein peptidoglycans (PGN) of Gram-positive bacteria. Has bactericidal activity towards Gram-positive bacteria. May kill Gram-positive bacteria by interfering with peptidoglycan biosynthesis. Binds also to Gram-negative bacteria, and has bacteriostatic activity towards Gram-negative bacteria. Plays a role in innate immunity. 1YCK AC007785 5042404 PGLYRP1 PGLYRP1 HGNC:8904 true hsa:8993 NP_005082.1:NM_005091.2 Highly expressed in bone marrow. Weak expression found in kidney, liver, small intestine, spleen, thymus, peripheral leukocyte, lung, fetal spleen and neutrophils. Homodimer; disulfide-linked 2020-06-12T23:06:59Z 2020-07-28T02:27:12Z 1 0 0 1756 CDBP01755 Protocadherin-8 O95206 PCDH8_HUMAN false false Metal Binding Homo_sapiens PCDH8 1070 113017.3 5.2 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein ["1-29"] ["750-770"] AF061573 6513853 PCDH8 Chromosome:1 13q21.1 PCDH8 HGNC:8660 true 2020-06-12T23:06:59Z 2020-07-28T02:31:57Z 0 1 0 1757 CDBP01756 Bile salt export pump O95342 ABCBB_HUMAN false true Transporter Homo_sapiens ABCB11 1321 146405.8 6.52 Involved in ATP binding Involved in the ATP-dependent secretion of bile salts into the canaliculus of hepatocytes ["None"] ["63-83", "148-168", "216-236", "241-261", "320-340", "354-374", "756-776", "795-815", "870-890", "891-911", "980-1000", "1012-1032"] NM_003742.2 21536378 ABCB11 Chromosome:2 2q24 ABCB11 HGNC:42 true 2020-06-12T23:06:59Z 2020-06-12T23:06:59Z 0 0 0 1758 CDBP01757 Superoxide dismutase [Cu-Zn] P00441 SODC_HUMAN true false Enzyme Homo_sapiens SOD1 154 15935.685 6.122 Involved in metal ion binding Destroys radicals which are normally produced within the cells and which are toxic to biological systems. 1AZV;1BA9;1DSW;1FUN;1HL4;1HL5;1KMG;1L3N;1MFM;1N18;1N19;1OEZ;1OZT;1OZU;1P1V;1PTZ;1PU0;1RK7;1SOS;1SPD;1UXL;1UXM;2AF2;2C9S;2C9U;2C9V;2GBT;2GBU;2GBV;2LU5;2NNX;2R27;2V0A;2VR6;2VR7;2VR8;2WKO;2WYT;2WYZ;2WZ0;2WZ5;2WZ6;2XJK;2XJL;2ZKW;2ZKX;2ZKY;3CQP;3CQQ;3ECU;3ECV;3ECW;3GQF;3GTV;3GZO;3GZP;3GZQ;3H2P;3H2Q;3HFF;3K91;3KH3;3KH4;3LTV;3QQD;3RE0;3T5W;4A7G;4A7Q;4A7S;4A7T;4A7U;4A7V;4B3E;4SOD X02317 36542 SOD1 21 21q22.11 SOD1 HGNC:11179 true hsa:6647 NP_000445.1:NM_000454.4 copper ion;zinc ion Homodimer; non-disulfide linked. Homodimerization may take place via the ditryptophan cross-link at Trp-33. The pathogenic variants ALS1 Arg-38, Arg-47, Arg-86 and Ala-94 interact with RNF19A, whereas wild-type protein does not. The pathogenic variants ALS1 Arg-86 and Ala-94 interact with MARCH5, whereas wild-type protein does not 2020-06-12T23:06:59Z 2020-07-28T02:27:12Z 1 1 0 1759 CDBP01758 Coagulation factor XII P00748 FA12_HUMAN true false Enzyme Homo_sapiens F12 615 67817.6 7.76 Involved in serine-type endopeptidase activity Factor XII is a serum glycoprotein that participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then trypsin cleaves it to beta- factor XIIa. Alpha-factor XIIa activates factor XI to factor XIa ["1-19"] ["None"] AF538691 22532477 F12 Chromosome:5 5q33-qter F12 HGNC:3530 true 2020-06-12T23:06:59Z 2020-06-12T23:06:59Z 0 0 0 1760 CDBP01759 Urokinase-type plasminogen activator P00749 UROK_HUMAN true false Enzyme Homo_sapiens PLAU 431 48507.1 8.48 Involved in serine-type endopeptidase activity Specifically cleave the zymogen plasminogen to form the active enzyme plasmin ["1-20"] ["None"] 1VJA M15476 340160 PLAU Chromosome:1 10q24 PLAU HGNC:9052 true 2020-06-12T23:06:59Z 2020-06-12T23:06:59Z 0 0 0 1761 CDBP01760 Carbonic anhydrase 1 P00915 CAH1_HUMAN true false Enzyme Homo_sapiens CA1 261 28870.0 7.117 Involved in carbonate dehydratase activity Reversible hydration of carbon dioxide. Can hydrates cyanamide to urea. 1AZM;1BZM;1CRM;1CZM;1HCB;1HUG;1HUH;1J9W;1JV0;2CAB;2FOY;2FW4;2IT4;2NMX;2NN1;2NN7;3LXE X05014 29600 CA1 8 8q21.2 CA1 HGNC:1368 true hsa:759 NP_001122301.1:NM_001128829.2;NP_001122302.1:NM_001128830.2;NP_001122303.1:NM_001128831.2;NP_001158302.1:NM_001164830.1;NP_001729.1:NM_001738.3 Zinc 2020-06-12T23:06:59Z 2020-07-28T02:27:12Z 0 1 0 1762 CDBP01761 Carbonic anhydrase 2 P00918 CAH2_HUMAN true false Enzyme Homo_sapiens CA2 260 29245.895 7.405 Involved in carbonate dehydratase activity Essential for bone resorption and osteoclast differentiation (By similarity). Reversible hydration of carbon dioxide. Can hydrate cyanamide to urea. Involved in the regulation of fluid secretion into the anterior chamber of the eye. 12CA;1A42;1AM6;1AVN;1BCD;1BIC;1BN1;1BN3;1BN4;1BNM;1BNN;1BNQ;1BNT;1BNU;1BNV;1BNW;1BV3;1CA2;1CA3;1CAH;1CAI;1CAJ;1CAK;1CAL;1CAM;1CAN;1CAO;1CAY;1CAZ;1CCS;1CCT;1CCU;1CIL;1CIM;1CIN;1CNB;1CNC;1CNG;1CNH;1CNI;1CNJ;1CNK;1CNW;1CNX;1CNY;1CRA;1CVA;1CVB;1CVC;1CVD;1CVE;1CVF;1CVH;1DCA;1DCB;1EOU;1F2W;1FQL;1FQM;1FQN;1FQR;1FR4;1FR7;1FSN;1FSQ;1FSR;1G0E;1G0F;1G1D;1G3Z;1G45;1G46;1G48;1G4J;1G4O;1G52;1G53;1G54;1H4N;1H9N;1H9Q;1HCA;1HEA;1HEB;1HEC;1HED;1HVA;1I8Z;1I90;1I91;1I9L;1I9M;1I9N;1I9O;1I9P;1I9Q;1IF4;1IF5;1IF6;1IF7;1IF8;1IF9;1KWQ;1KWR;1LG5;1LG6;1LGD;1LUG;1LZV;1MOO;1MUA;1OKL;1OKM;1OKN;1OQ5;1RAY;1RAZ;1RZA;1RZB;1RZC;1RZD;1RZE;1T9N;1TB0;1TBT;1TE3;1TEQ;1TEU;1TG3;1TG9;1TH9;1THK;1TTM;1UGA;1UGB;1UGC;1UGD;1UGE;1UGF;1UGG;1XEG;1XEV;1XPZ;1XQ0;1YDA;1YDB;1YDC;1YDD;1YO0;1YO1;1YO2;1Z9Y;1ZE8;1ZFK;1ZFQ;1ZGE;1ZGF;1ZH9;1ZSA;1ZSB;1ZSC;2ABE;2AW1;2AX2;2CA2;2CBA;2CBB;2CBC;2CBD;2CBE;2EU2;2EU3;2EZ7;2F14;2FMG;2FMZ;2FNK;2FNM;2FNN;2FOQ;2FOS;2FOU;2FOV;2GD8;2GEH;2H15;2H4N;2HD6;2HKK;2HL4;2HNC;2HOC;2ILI;2NNG;2NNO;2NNS;2NNV;2NWO;2NWP;2NWY;2NWZ;2NXR;2NXS;2NXT;2O4Z;2OSF;2OSM;2POU;2POV;2POW;2Q1B;2Q1Q;2Q38;2QO8;2QOA;2QP6;2VVA;2VVB;2WD2;2WD3;2WEG;2WEH;2WEJ;2WEO;2X7S;2X7T;2X7U;3B4F;3BET;3BL0;3BL1;3C7P;3CA2;3CAJ;3CYU;3D8W;3D92;3D93;3D9Z;3DAZ;3DBU;3DC3;3DC9;3DCC;3DCS;3DCW;3DD0;3DD8;3DV7;3DVB;3DVC;3DVD;3EFT;3F4X;3F8E;3FFP;3GZ0;3HFP;3HKN;3HKQ;3HKT;3HKU;3HLJ;3HS4;3IBI;3IBL;3IBN;3IBU;3IEO;3IGP;3K2F;3K34;3K7K;3KIG;3KKX;3KNE;3KOI;3KOK;3KON;3KS3;3KWA;3L14;3M04;3M14;3M1J;3M1K;3M1Q;3M1W;3M2N;3M2X;3M2Y;3M2Z;3M3X;3M40;3M5E;3M5S;3M5T;3M67;3M96;3M98;3MHC;3MHI;3MHL;3MHM;3MHO;3ML2;3MMF;3MNA;3MNH;3MNI;3MNJ;3MNK;3MNU;3MWO;3MYQ;3MZC;3N0N;3N2P;3N3J;3N4B;3NB5;3NI5;3NJ9;3OIK;3OIL;3OIM;3OKU;3OKV;3OY0;3OYQ;3OYS;3P25;3P29;3P3H;3P3J;3P44;3P4V;3P55;3P58;3P5A;3P5L;3PJJ;3PO6;3PYK;3QYK;3R16;3R17;3RG3;3RG4;3RGE;3RJ7;3RLD;3RYJ;3RYV;3RYX;3RYY;3RYZ;3RZ0;3RZ1;3RZ5;3RZ7;3RZ8;3S71;3S72;3S73;3S74;3S75;3S76;3S77;3S78;3S8X;3S9T;3SAP;3SAX;3SBH;3SBI;3T5U;3T5Z;3T82;3T83;3T84;3T85;3TMJ;3TVN;3TVO;3U3A;3U45;3U47;3V2J;3V2M;3V3F;3V3G;3V3H;3V3I;3V3J;3V5G;3V7X;3VBD;4CA2;4CAC;4E3D;4E3F;4E3G;4E3H;4E49;4E4A;4FIK;4FL7;4G0C;4IDR;5CA2;5CAC;6CA2;7CA2;8CA2;9CA2 Y00339 29587 CA2 8 8q22 CA2 HGNC:1373 true hsa:760 NP_000058.1:NM_000067.2 Zinc. Can also use cobalt(II) with lower efficiency, but not copper(II), nickel(II) and manganese(II) Interacts with SLC4A4. Interaction with SLC4A7 regulates SLC4A7 transporter activity 2020-06-12T23:06:59Z 2020-07-28T02:27:12Z 0 1 0 1763 CDBP01762 Alpha-2-macroglobulin P01023 A2MG_HUMAN true false Enzyme Homo_sapiens A2M 1474 163289.9 6.43 Involved in protein binding Is able to inhibit all four classes of proteinases by a unique 'trapping' mechanism. This protein has a peptide stretch, called the 'bait region' which contains specific cleavage sites for different proteinases. When a proteinase cleaves the bait region, a conformational change is induced in the protein which traps the proteinase. The entrapped enzyme remains active against low molecular weight substrates (activity against high molecular weight substrates is greatly reduced). Following cleavage in the bait region a thioester bond is hydrolyzed and mediates the covalent binding of the protein to the proteinase ["1-23"] ["None"] 1BV8 M11313 177870 A2M Chromosome:1 12p13.3-p12.3 A2M HGNC:7 true 2020-06-12T23:06:59Z 2020-06-12T23:06:59Z 0 0 0 1764 CDBP01763 Kininogen-1 P01042 KNG1_HUMAN true false Enzyme Homo_sapiens KNG1 644 71957.0 6.8 Involved in cysteine-type endopeptidase inhibitor activity (1) Kininogens are inhibitors of thiol proteases; (2) HMW-kininogen plays an important role in blood coagulation by helping to position optimally prekallikrein and factor XI next to factor XII; (3) HMW-kininogen inhibits the thrombin- and plasmin- induced aggregation of thrombocytes; (4) the active peptide bradykinin that is released from HMW-kininogen shows a variety of physiological effects:(4A) influence in smooth muscle contraction, (4B) induction of hypotension, (4C) natriuresis and diuresis, (4D) decrease in blood glucose level, (4E) it is a mediator of inflammation and causes (4E1) increase in vascular permeability, (4E2) stimulation of nociceptors (4E3) release of other mediators of inflammation (e.g. prostaglandins), (4F) it has a cardioprotective effect (directly via bradykinin action, indirectly via endothelium-derived relaxing factor action); (5) LMW-kininogen inhibits the aggregation of thrombocytes; (6) LMW- kininogen is in contrast to HMW-kininogen not involved in blood clotting ["1-18"] ["None"] NM_001102416.2 156231037 KNG1 Chromosome:3 3q27 KNG1 HGNC:6383 true 2020-06-12T23:06:59Z 2020-06-12T23:06:59Z 0 0 0 1765 CDBP01764 Low-density lipoprotein receptor P01130 LDLR_HUMAN true false Enzyme Homo_sapiens LDLR 860 95375.1 4.64 Involved in calcium ion binding Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits. In case of HIV-1 infection, functions as a receptor for extracellular Tat in neurons, mediating its internalization in uninfected cells ["1-21"] ["789-810"] 1N7D AY114155 21629648 LDLR Chromosome:1 19p13.3 LDLR HGNC:6547 true 2020-06-12T23:06:59Z 2020-07-28T02:27:12Z 0 1 0 1766 CDBP01765 Parathyroid hormone P01270 PTHY_HUMAN false false Receptor Homo_sapiens PTH 115 12861.0 10.49 Involved in hormone activity PTH elevates calcium level by dissolving the salts in bone and preventing their renal excretion ["1-25"] ["None"] 1BWX V00597 37144 PTH Chromosome:1 11p15.3-p15.1 PTH HGNC:9606 true 2020-06-12T23:06:59Z 2020-07-28T02:32:16Z 1 0 0 1767 CDBP01766 Tumor necrosis factor P01375 TNFA_HUMAN true false Enzyme Homo_sapiens TNF 233 25644.1 6.92 Involved in tumor necrosis factor receptor binding Cytokine that binds to TNFRSF1A/TNFR1 and TNFRSF1B/TNFBR. It is mainly secreted by macrophages and can induce cell death of certain tumor cell lines. It is potent pyrogen causing fever by direct action or by stimulation of interleukin-1 secretion and is implicated in the induction of cachexia, Under certain conditions it can stimulate cell proliferation and induce cell differentiation ["None"] ["36-56"] 1A8M X01394 37220 TNF Chromosome:6 6p21.3 TNF HGNC:11892 true 2020-06-12T23:06:59Z 2020-07-28T02:27:12Z 1 0 0 1768 CDBP01767 Interferon gamma P01579 IFNG_HUMAN true false Enzyme Homo_sapiens IFNG 166 19348.2 10.01 Involved in cytokine activity Produced by lymphocytes activated by specific antigens or mitogens. IFN-gamma, in addition to having antiviral activity, has important immunoregulatory functions. It is a potent activator of macrophages, it has antiproliferative effects on transformed cells and it can potentiate the antiviral and antitumor effects of the type I interferons ["1-23"] ["None"] 1HIG AB451324 197692349 IFNG Chromosome:1 12q14 true 2020-06-12T23:06:59Z 2020-07-28T02:27:12Z 1 0 0 1769 CDBP01768 Interleukin-1 beta P01584 IL1B_HUMAN true false Enzyme Homo_sapiens IL1B 269 30747.7 4.45 Involved in growth factor activity Produced by activated macrophages, IL-1 stimulates thymocyte proliferation by inducing IL-2 release, B-cell maturation and proliferation, and fibroblast growth factor activity. IL-1 proteins are involved in the inflammatory response, being identified as endogenous pyrogens, and are reported to stimulate the release of prostaglandin and collagenase from synovial cells ["None"] ["None"] 9ILB AC079753 62630143 IL1B Chromosome:2 2q14 IL1B HGNC:5992 true 2020-06-12T23:06:59Z 2020-07-28T02:27:12Z 1 0 0 1770 CDBP01769 C-reactive protein P02741 CRP_HUMAN false false Enzyme Homo_sapiens CRP 224 25038.4 5.32 Involved in choline binding Displays several functions associated with host defense:it promotes agglutination, bacterial capsular swelling, phagocytosis and complement fixation through its calcium-dependent binding to phosphorylcholine. Can interact with DNA and histones and may scavenge nuclear material released from damaged circulating cells ["1-18"] ["None"] 1LJ7 AF442818 17975775 CRP Chromosome:1 1q21-q23 CRP HGNC:2367 true 2020-06-12T23:06:59Z 2020-07-28T02:33:39Z 0 0 0 1771 CDBP01770 Fibronectin P02751 FINC_HUMAN true false Enzyme Homo_sapiens FN1 2386 262623.1 5.45 Involved in collagen binding Anastellin binds fibronectin and induces fibril formation. This fibronectin polymer, named superfibronectin, exhibits enhanced adhesive properties. Both anastellin and superfibronectin inhibit tumor growth, angiogenesis and metastasis. Anastellin activates p38 MAPK and inhibits lysophospholipid signaling ["1-31"] ["None"] 1FNF 47132557 FN1 Chromosome:2 2q34 FN1 HGNC:3778 true 2020-06-12T23:06:59Z 2020-06-12T23:06:59Z 0 0 0 1772 CDBP01771 Serum albumin P02768 ALBU_HUMAN false false Enzyme Homo_sapiens ALB 609 69365.9 6.21 Involved in transport Serum albumin, the main protein of plasma, has a good binding capacity for water, Ca(2+), Na(+), K(+), fatty acids, hormones, bilirubin and drugs. Its main function is the regulation of the colloidal osmotic pressure of blood. Major zinc transporter in plasma, typically binds about 80% of all plasma zinc ["1-18"] ["None"] 1HA2 V00494 28590 ALB Chromosome:4 4q13.3 ALB HGNC:399 true 2020-06-12T23:06:59Z 2020-07-28T02:33:39Z 0 0 0 1773 CDBP01772 Serotransferrin P02787 TRFE_HUMAN false false Metal Binding Homo_sapiens TF 698 77049.2 7.13 Involved in ferric iron binding Transferrins are iron binding transport proteins which can bind two Fe(3+) ions in association with the binding of an anion, usually bicarbonate. It is responsible for the transport of iron from sites of absorption and heme degradation to those of storage and utilization. Serum transferrin may also have a further role in stimulating cell proliferation ["1-19"] ["None"] M12530 339453 TF Chromosome:3 3q22.1 TF HGNC:11740 true 2020-06-12T23:06:59Z 2020-07-28T02:31:57Z 0 1 0 1774 CDBP01773 Ferritin light chain P02792 FRIL_HUMAN false false Metal Binding Homo_sapiens FTL 175 20019.5 5.59 Involved in oxidoreductase activity Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney ["None"] ["None"] M11147 182514 FTL Chromosome:1 19q13.33 FTL HGNC:3999 true 2020-06-12T23:06:59Z 2020-07-28T02:31:57Z 0 1 0 1775 CDBP01774 Estrogen receptor P03372 ESR1_HUMAN true false Enzyme Homo_sapiens ESR1 595 66215.4 8.14 Involved in sequence-specific DNA binding transcription factor activity Nuclear hormone receptor. The steroid hormones and their receptors are involved in the regulation of eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Can activate the transcriptional activity of TFF1 ["None"] ["None"] 1R5K X03635 31234 ESR1 Chromosome:6 6q25.1 ESR1 HGNC:3467 true 2020-06-12T23:06:59Z 2020-07-28T02:27:13Z 1 1 1 1776 CDBP01775 Plasma kallikrein P03952 KLKB1_HUMAN true false Enzyme Homo_sapiens KLKB1 638 71369.2 8.26 Involved in serine-type endopeptidase activity The enzyme cleaves Lys-Arg and Arg-Ser bonds. It activates, in a reciprocal reaction, factor XII after its binding to a negatively charged surface. It also releases bradykinin from HMW kininogen and may also play a role in the renin-angiotensin system by converting prorenin into renin ["1-19"] ["None"] M13143 KLKB1 Chromosome:4 4q35 KLKB1 HGNC:6371 true 2020-06-12T23:06:59Z 2020-06-12T23:06:59Z 0 0 0 1777 CDBP01776 Apolipoprotein B-100 P04114 APOB_HUMAN true true Enzyme Homo_sapiens APOB 4563 515600.1 7.04 Involved in lipid transporter activity Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor ["1-27"] ["None"] X04506 34331 APOB Chromosome:2 2p24-p23 APOB HGNC:603 true 2020-06-12T23:06:59Z 2020-07-28T02:27:13Z 0 0 0 1778 CDBP01777 Alpha-amylase 1 P04745 AMY1_HUMAN true false Enzyme Homo_sapiens AMY1A 511 Involved in catalytic activity 1C8Q;1JXJ;1JXK;1MFU;1MFV;1NM9;1Q4N;1SMD;1XV8;1Z32;3BLK;3BLP;3DHP AK292341 AMY1A AMY1A HGNC:476 true hsa:278 NP_001008219.1:NM_001008218.1;NP_001008220.1:NM_001008219.1;NP_001008222.1:NM_001008221.1;NP_004029.2:NM_004038.3 calcium ion;chloride ion Monomer 2020-06-12T23:06:59Z 2020-07-28T02:27:13Z 0 1 0 1779 CDBP01778 Pancreatic alpha-amylase P04746 AMYP_HUMAN true false Enzyme Homo_sapiens AMY2A 511 Involved in catalytic activity 1B2Y;1BSI;1CPU;1HNY;1KB3;1KBB;1KBK;1KGU;1KGW;1KGX;1U2Y;1U30;1U33;1XCW;1XCX;1XD0;1XD1;1XGZ;1XH0;1XH1;1XH2;2CPU;2QMK;2QV4;3BAI;3BAJ;3BAK;3BAW;3BAX;3BAY;3CPU;3IJ7;3IJ8;3IJ9;3OLD;3OLE;3OLG;3OLI;4GQQ;4GQR M28443 529397 AMY2A AMY2A HGNC:477 true hsa:279 NP_000690.1:NM_000699.2 calcium ion;chloride ion Monomer 2020-06-12T23:06:59Z 2020-07-28T02:27:13Z 0 0 0 1780 CDBP01779 Integrin beta-2 P05107 ITB2_HUMAN true false Enzyme Homo_sapiens ITGB2 769 84781.1 6.94 Involved in receptor activity Integrin alpha-L/beta-2 is a receptor for ICAM1, ICAM2, ICAM3 and ICAM4. Integrins alpha-M/beta-2 and alpha-X/beta-2 are receptors for the iC3b fragment of the third complement component and for fibrinogen. Integrin alpha-X/beta-2 recognizes the sequence G-P-R in fibrinogen alpha-chain. Integrin alpha-M/beta-2 recognizes P1 and P2 peptides of fibrinogen gamma chain. Integrin alpha-M/beta-2 is also a receptor for factor X. Integrin alpha- D/beta-2 is a receptor for ICAM3 and VCAM1 ["1-22"] ["701-723"] AK095992 193788296 ITGB2 Chromosome:2 21q22.3 ITGB2 HGNC:6155 true 2020-06-12T23:06:59Z 2020-07-28T02:27:13Z 1 0 0 1781 CDBP01780 Interleukin-6 P05231 IL6_HUMAN true false Enzyme Homo_sapiens IL6 212 23718.0 6.52 Involved in cytokine activity Cytokine with a wide variety of biological functions. It is a potent inducer of the acute phase response. Plays an essential role in the final differentiation of B-cells into Ig- secreting cells Involved in lymphocyte and monocyte differentiation. It induces myeloma and plasmacytoma growth and induces nerve cells differentiation Acts on B-cells, T-cells, hepatocytes, hematopoeitic progenitor cells and cells of the CNS. Also acts as a myokine. It is discharged into the bloodstream after muscle contraction and acts to increase the breakdown of fats and to improve insulin resistance ["1-29"] ["None"] 2IL6 X04430 32674 IL6 Chromosome:7 7p21 IL6 HGNC:6018 true 2020-06-12T23:06:59Z 2020-07-28T02:27:13Z 1 0 0 1782 CDBP01781 Endothelin-1 P05305 EDN1_HUMAN true false Enzyme Homo_sapiens EDN1 212 24424.9 9.92 Involved in endothelin A receptor binding Endothelins are endothelium-derived vasoconstrictor peptides ["1-17"] ["None"] 1V6R AY434104 37654538 EDN1 Chromosome:6 6p24.1 true 2020-06-12T23:06:59Z 2020-06-12T23:06:59Z 0 0 0 1783 CDBP01782 Intercellular adhesion molecule 1 P05362 ICAM1_HUMAN true false Enzyme Homo_sapiens ICAM1 532 57824.8 8.06 Involved in cell-cell adhesion ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2). During leukocyte trans- endothelial migration, ICAM1 engagement promotes the assembly of endothelial apical cups through SGEF and RHOG activation. In case of rhinovirus infection acts as a cellular receptor for the virus ["1-27"] ["481-503"] 1MQ8 X06990 758074 ICAM1 Chromosome:1 19p13.3-p13.2 ICAM1 HGNC:5344 true 2020-06-12T23:06:59Z 2020-06-12T23:06:59Z 0 0 0 1784 CDBP01783 Transcription factor AP-1 P05412 JUN_HUMAN true false Enzyme Homo_sapiens JUN 331 35675.3 9.11 Involved in sequence-specific DNA binding transcription factor activity Transcription factor that recognizes and binds to the enhancer heptamer motif 5'-TGA[CG]TCA-3' ["None"] ["None"] 1JNM BT019759 JUN Chromosome:1 1p32-p31 JUN HGNC:6204 true 2020-06-12T23:06:59Z 2020-07-28T02:27:13Z 0 0 1 1785 CDBP01784 Apolipoprotein A-IV precursor P06727 APOA4_HUMAN false true Transporter Homo_sapiens APOA4 396 45400.0 5.05 Replication, recombination and repair May have a role in chylomicrons and VLDL secretion and catabolism. Required for efficient activation of lipoprotein lipase by ApoC-II; potent activator of LCAT. Apoa-IV is a major component of HDL and chylomicrons ["1-20"] M13654 178759 APOA4 Chromosome:11 11q23 APOA4 HGNC:602 true 2020-06-12T23:06:59Z 2020-06-12T23:06:59Z 0 0 0 1786 CDBP01785 Calcitonin gene-related peptide 1 P06881 CALCA_HUMAN false false Receptor Homo_sapiens CALCA 128 13897.8 9.97 Involved in hormone activity CGRP induces vasodilation. It dilates a variety of vessels including the coronary, cerebral and systemic vasculature. Its abundance in the CNS also points toward a neurotransmitter or neuromodulator role. It also elevates platelet cAMP ["1-25"] ["None"] NM_001033953.2 76880478 CALCA CALCA HGNC:1437 true 2020-06-12T23:06:59Z 2020-07-28T02:32:16Z 1 0 0 1787 CDBP01786 Rhodopsin P08100 OPSD_HUMAN true false Enzyme Homo_sapiens RHO 348 38892.3 6.64 Involved in G-protein coupled receptor protein signaling pathway Photoreceptor required for image-forming vision at low light intensity. Required for photoreceptor cell viability after birth. Light-induced isomerization of 11-cis to all-trans retinal triggers a conformational change leading to G-protein activation and release of all-trans retinal ["None"] ["37-61", "74-98", "114-133", "153-176", "203-230", "253-276", "285-309"] 1LN6 BX537381 31873264 RHO Chromosome:3 3q21-q24 RHO HGNC:10012 true 2020-06-12T23:06:59Z 2020-07-28T02:27:13Z 1 0 0 1788 CDBP01787 Multidrug resistance protein 1 P08183 MDR1_HUMAN false true Transporter Homo_sapiens ABCB1 1280 141477.3 9.44 Involved in ATP binding Energy-dependent efflux pump responsible for decreased drug accumulation in multidrug-resistant cells ["None"] ["52-72", "120-140", "189-209", "216-236", "297-317", "326-346", "711-731", "757-777", "833-853", "854-874", "937-957", "974-994"] NM_000927.3 42741659 ABCB1 Chromosome:7 7q21.12 ABCB1 HGNC:40 true 2020-06-12T23:06:59Z 2020-06-12T23:06:59Z 0 0 0 1789 CDBP01788 Integrin alpha-IIb P08514 ITA2B_HUMAN true false Enzyme Homo_sapiens ITGA2B 1039 113376.0 5.03 Involved in cell adhesion Integrin alpha-IIb/beta-3 is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. It recognizes the sequence R-G-D in a wide array of ligands. It recognizes the sequence H-H-L-G-G-G-A-K-Q-A-G-D-V in fibrinogen gamma chain. Following activation integrin alpha- IIb/beta-3 brings about platelet/platelet interaction through binding of soluble fibrinogen. This step leads to rapid platelet aggregation which physically plugs ruptured endothelial cell surface ["1-31"] ["994-1019"] 1TYE J02764 190068 ITGA2B Chromosome:1 17q21.32 ITGA2B HGNC:6138 true 2020-06-12T23:06:59Z 2020-07-28T02:27:13Z 1 0 0 1790 CDBP01789 Annexin A5 P08758 ANXA5_HUMAN false false Metal Binding Homo_sapiens ANXA5 320 35936.4 4.66 Involved in calcium ion binding This protein is an anticoagulant protein that acts as an indirect inhibitor of the thromboplastin-specific complex, which is involved in the blood coagulation cascade ["None"] ["None"] 1HAK M18366 ANXA5 Chromosome:4 4q26-q28|4q27 ANXA5 HGNC:543 true 2020-06-12T23:06:59Z 2020-07-28T02:31:57Z 0 1 0 1791 CDBP01790 Heparin-binding growth factor 2 P09038 FGF2_HUMAN true false Enzyme Homo_sapiens FGF2 288 30769.7 11.71 Involved in growth factor activity The heparin-binding growth factors are angiogenic agents in vivo and are potent mitogens for a variety of cell types in vitro. There are differences in the tissue distribution and concentration of these 2 growth factors ["None"] ["None"] 1IIL NM_002006.4 153285461 FGF2 Chromosome:4 4q26 FGF2 HGNC:3676 true 2020-06-12T23:06:59Z 2020-07-28T02:27:14Z 1 0 0 1792 CDBP01791 Retinol-binding protein 1 P09455 RET1_HUMAN true true Enzyme Homo_sapiens RBP1 135 15850.1 4.74 Involved in binding Intracellular transport of retinol ["None"] ["None"] 1CRB M11433 190948 RBP1 Chromosome:3 3q23 RBP1 HGNC:9919 true 2020-06-12T23:06:59Z 2020-07-28T02:27:14Z 0 0 0 1793 CDBP01792 SPARC P09486 SPRC_HUMAN false false Metal Binding Homo_sapiens SPARC 303 34631.9 4.47 Involved in calcium ion binding Appears to regulate cell growth through interactions with the extracellular matrix and cytokines. Binds calcium and copper, several types of collagen, albumin, thrombospondin, PDGF and cell membranes. There are two calcium binding sites; an acidic domain that binds 5 to 8 Ca(2+) with a low affinity and an EF-hand loop that binds a Ca(2+) ion with a high affinity ["1-17"] ["None"] 1BMO Y00755 29462 SPARC Chromosome:5 5q31.3-q32 SPARC HGNC:11219 true 2020-06-12T23:06:59Z 2020-07-28T02:31:57Z 0 1 0 1794 CDBP01793 Adrenodoxin, mitochondrial precursor P10109 ADX_HUMAN true true Enzyme Homo_sapiens FDX1 184 19393.0 5.62 Energy production and conversion Participates in the synthesis of thyroid hormones. Transfers electrons from adrenodoxin reductase to the cholesterol side chain cleavage cytochrome P450 ["1-15"] M23668 557734 FDX1 Chromosome:11 11q22 FDX1 HGNC:3638 true 2020-06-12T23:06:59Z 2020-07-28T02:27:14Z 0 1 0 1795 CDBP01794 Solute carrier family 2, facilitated glucose transporter member 1 P11166 GTR1_HUMAN true true Enzyme Homo_sapiens SLC2A1 492 54083.325 8.719 Involved in glucose transmembrane transporter activity Facilitative glucose transporter. This isoform may be responsible for constitutive or basal glucose uptake. Has a very broad substrate specificity; can transport a wide range of aldoses including both pentoses and hexoses. 1SUK NM_006516.2 166795299 SLC2A1 1 1p34.2 SLC2A1 HGNC:11005 true hsa:6513 NP_006507.2:NM_006516.2 Expressed at variable levels in many human tissues. 2020-06-12T23:06:59Z 2020-07-28T02:27:14Z 0 0 0 1796 CDBP01795 Coagulation factor V P12259 FA5_HUMAN false false Metal Binding Homo_sapiens F5 2224 251701.2 5.95 Involved in cell adhesion Central regulator of hemostasis. It serves as a critical cofactor for the prothrombinase activity of factor Xa that results in the activation of prothrombin to thrombin ["1-28"] ["None"] M16967 182412 F5 Chromosome:1 1q23 F5 HGNC:3542 true 2020-06-12T23:06:59Z 2020-07-28T02:31:58Z 0 1 0 1797 CDBP01796 Parathyroid hormone-related protein P12272 PTHR_HUMAN false false Receptor Homo_sapiens PTHLH 177 20193.7 10.9 Involved in hormone activity Osteostatin is a potent inhibitor of osteoclastic bone resorption ["1-24"] ["None"] 1BZG CR541882 49456719 PTHLH Chromosome:1 12p12.1-p11.2 PTHLH HGNC:9607 true 2020-06-12T23:06:59Z 2020-07-28T02:32:16Z 1 0 0 1798 CDBP01797 Cystic fibrosis transmembrane conductance regulator P13569 CFTR_HUMAN false true Transporter Homo_sapiens CFTR 1480 168139.895 8.738 Involved in ATP binding Involved in the transport of chloride ions. May regulate bicarbonate secretion and salvage in epithelial cells by regulating the SLC4A7 transporter. Can inhibit the chloride channel activity of ANO1. 1NBD;1XMI;1XMJ;2BBO;2BBS;2BBT;2LOB;2PZE;2PZF;2PZG;3GD7;3ISW NM_000492.3 90421313 CFTR 7 7q31.2 CFTR HGNC:1884 true hsa:1080 HS00075-MONOMER NP_000483.3:NM_000492.3 Found on the surface of the epithelial cells that line the lungs and other organs. Interacts with SHANK2 . Interacts with SLC9A3R1, MYO6 and GOPC. Interacts with SLC4A7 through SLC9A3R1. Found in a complex with MYO5B and RAB11A. Interacts with ANO1 2020-06-12T23:06:59Z 2020-07-28T02:32:08Z 0 0 0 1799 CDBP01798 Neutrophil cytosol factor 1 P14598 NCF1_HUMAN true false Enzyme Homo_sapiens NCF1 390 44682.4 9.43 Involved in protein binding NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production) ["None"] ["None"] 1UEC NM_000265.4 115298672 NCF1 NCF1 HGNC:7660 true 2020-06-12T23:06:59Z 2020-06-12T23:06:59Z 0 0 0 1800 CDBP01799 Matrix metalloproteinase-9 P14780 MMP9_HUMAN true false Enzyme Homo_sapiens MMP9 707 78457.5 5.92 Involved in metalloendopeptidase activity May play an essential role in local proteolysis of the extracellular matrix and in leukocyte migration. Could play a role in bone osteoclastic resorption. Cleaves KiSS1 at a Gly-|-Leu bond. Cleaves type IV and type V collagen into large C-terminal three quarter fragments and shorter N-terminal one quarter fragments. Degrades fibronectin but not laminin or Pz-peptide ["1-19"] ["None"] 1L6J AF538844 22532481 MMP9 Chromosome:2 20q11.2-q13.1 MMP9 HGNC:7176 true 2020-06-12T23:06:59Z 2020-07-28T02:27:14Z 0 1 0 1801 CDBP01800 Vascular endothelial growth factor A P15692 VEGFA_HUMAN true false Enzyme Homo_sapiens VEGFA 232 27042.2 9.08 Involved in growth factor activity Growth factor active in angiogenesis, vasculogenesis and endothelial cell growth. Induces endothelial cell proliferation, promotes cell migration, inhibits apoptosis and induces permeabilization of blood vessels. Binds to the FLT1/VEGFR1 and KDR/VEGFR2 receptors, heparan sulfate and heparin. NRP1/Neuropilin-1 binds isoforms VEGF-165 and VEGF-145. Isoform VEGF165B binds to KDR but does not activate downstream signaling pathways, does not activate angiogenesis and inhibits tumor growth ["1-26"] ["None"] 1TZI NM_001171623.1 284172459 VEGFA Chromosome:6 6p12 VEGFA HGNC:12680 true 2020-06-12T23:06:59Z 2020-07-28T02:27:14Z 1 0 0 1802 CDBP01801 P-selectin P16109 LYAM3_HUMAN true false Enzyme Homo_sapiens SELP 830 90833.1 6.57 Involved in binding Ca(2+)-dependent receptor for myeloid cells that binds to carbohydrates on neutrophils and monocytes. Mediates the interaction of activated endothelial cells or platelets with leukocytes. The ligand recognized is sialyl-Lewis X. Mediates rapid rolling of leukocyte rolling over vascular surfaces during the initial steps in inflammation through interaction with PSGL1 ["1-41"] ["772-795"] 1G1S AF542391 22771014 SELP Chromosome:1 1q22-q25 SELP HGNC:10721 true 2020-06-12T23:06:59Z 2020-06-12T23:06:59Z 0 0 0 1803 CDBP01802 Cyclic AMP-responsive element-binding protein 1 P16220 CREB1_HUMAN false false Transcription Factor Homo_sapiens CREB1 341 36687.9 5.24 Involved in sequence-specific DNA binding transcription factor activity This protein binds the cAMP response element (CRE), a sequence present in many viral and cellular promoters. CREB stimulates transcription on binding to the CRE. Transcription activation is enhanced by the TORC coactivators which act independently of Ser-133 phosphorylation. Implicated in synchronization of circadian rhythmicity ["None"] ["None"] X55545 287638 CREB1 Chromosome:2 2q34 CREB1 HGNC:2345 true 2020-06-12T23:06:59Z 2020-07-28T02:32:06Z 0 0 1 1804 CDBP01803 Thyrotropin receptor P16473 TSHR_HUMAN false false Receptor Homo_sapiens TSHR 764 86829.0 6.98 Involved in G-protein coupled receptor protein signaling pathway Receptor for thyrothropin. Plays a central role in controlling thyroid cell metabolism. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Also acts as a receptor for thyrostimulin (GPA2+GPB5) ["1-20"] ["414-441", "451-473", "495-517", "538-560", "581-602", "626-649", "661-682"] NM_000369.2 64085121 TSHR Chromosome:1 14q31 TSHR HGNC:12373 true 2020-06-12T23:06:59Z 2020-07-28T02:27:14Z 1 0 0 1805 CDBP01804 Platelet glycoprotein 4 P16671 CD36_HUMAN false true Transporter Homo_sapiens CD36 472 53054.0 8.06 Seems to have numerous potential physiological functions. Binds to collagen, thrombospondin, anionic phospholipids and oxidized LDL. May function as a cell adhesion molecule. Directly mediates cytoadherence of Plasmodium falciparum parasitized erythrocytes. Binds long chain fatty acids and may function in the transport and/or as a regulator of fatty acid transport ["1-23"] M24795 178671 CD36 Chromosome:7 7q11.2 CD36 HGNC:1663 true 2020-06-12T23:06:59Z 2020-06-12T23:06:59Z 0 0 0 1806 CDBP01805 Natriuretic peptides B P16860 ANFB_HUMAN true false Enzyme Homo_sapiens NPPB 134 14725.8 11.01 Involved in hormone activity Cardiac hormone which may function as a paracrine antifibrotic factor in the heart. Also plays a key role in cardiovascular homeostasis through natriuresis, diuresis, vasorelaxation, and inhibition of renin and aldosterone secretion. Specifically binds and stimulates the cGMP production of the NPR1 receptor. Binds the clearance receptor NPR3 ["1-26"] ["None"] AL021155 3171894 NPPB NPPB HGNC:7940 true 2020-06-12T23:06:59Z 2020-07-28T02:27:14Z 1 0 0 1807 CDBP01806 5,6-dihydroxyindole-2-carboxylic acid oxidase P17643 TYRP1_HUMAN true false Enzyme Homo_sapiens TYRP1 537 60723.8 5.86 Involved in copper ion binding Oxidation of 5,6-dihydroxyindole-2-carboxylic acid (DHICA) into indole-5,6-quinone-2-carboxylic acid. May regulate or influence the type of melanin synthesized ["1-24"] ["478-501"] AF001295 2735662 TYRP1 Chromosome:9 9p23 TYRP1 HGNC:12450 true 2020-06-12T23:06:59Z 2020-07-28T02:27:14Z 0 1 0 1808 CDBP01807 Syndecan-1 P18827 SDC1_HUMAN true false Enzyme Homo_sapiens SDC1 310 32461.4 4.26 Involved in cytoskeletal protein binding Cell surface proteoglycan that bears both heparan sulfate and chondroitin sulfate and that links the cytoskeleton to the interstitial matrix ["1-22"] ["255-275"] AC104792 62702225 SDC1 Chromosome:2 2p24.1 SDC1 HGNC:10658 true 2020-06-12T23:06:59Z 2020-06-12T23:06:59Z 0 0 0 1809 CDBP01808 Nuclear factor NF-kappa-B p105 subunit P19838 NFKB1_HUMAN true false Enzyme Homo_sapiens NFKB1 968 105355.2 5.05 Involved in protein binding NF-kappa-B is a pleiotropic transcription factor which is present in almost all cell types and is involved in many biological processed such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF- kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52 and the heterodimeric p65-p50 complex appears to be most abundant one. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF- kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. NF-kappa-B heterodimeric p65-p50 and RelB-p50 complexes are transcriptional activators. The NF-kappa-B p50-p50 homodimer is a transcriptional repressor, but can act as a transcriptional activator when associated with BCL3. NFKB1 appears to have dual functions such as cytoplasmic retention of attached NF-kappa-B proteins by p105 and generation of p50 by a cotranslational processing. The proteasome-mediated process ensures the production of both p50 and p105 and preserves their independent function, although processing of NFKB1/p105 also appears to occur post- translationally. p50 binds to the kappa-B consensus sequence 5'- GGRNNYYCC-3', located in the enhancer region of genes involved in immune response and acute phase reactions. In a complex with MAP3K8, NFKB1/p105 represses MAP3K8-induced MAPK signaling; active MAP3K8 is released by proteasome-dependent degradation of NFKB1/p105 ["None"] ["None"] 1SVC AF213884 7012906 NFKB1 Chromosome:4 4q24 NFKB1 HGNC:7794 true 2020-06-12T23:06:59Z 2020-07-28T02:27:14Z 0 0 1 1810 CDBP01809 Alpha-amylase 2B P19961 AMY2B_HUMAN true false Enzyme Homo_sapiens AMY2B 511 Involved in catalytic activity AK127047 193785276 AMY2B AMY2B HGNC:478 true hsa:280 NP_066188.1:NM_020978.3 calcium ion;chloride ion Monomer 2020-06-12T23:06:59Z 2020-07-28T02:27:14Z 0 1 0 1811 CDBP01810 Integrin alpha-L P20701 ITAL_HUMAN true false Enzyme Homo_sapiens ITGAL 1170 128768.5 5.35 Involved in cell adhesion Integrin alpha-L/beta-2 is a receptor for ICAM1, ICAM2, ICAM3 and ICAM4. It is involved in a variety of immune phenomena including leukocyte-endothelial cell interaction, cytotoxic T-cell mediated killing, and antibody dependent killing by granulocytes and monocytes ["1-25"] ["1091-1111"] 1RD4 Y00796 31422 ITGAL Chromosome:1 16p11.2 ITGAL HGNC:6148 true 2020-06-12T23:06:59Z 2020-07-28T02:27:15Z 1 0 0 1812 CDBP01811 Pleiotrophin P21246 PTN_HUMAN true false Enzyme Homo_sapiens PTN 168 18941.9 10.3 Involved in growth factor activity Heparin binding mitogenic protein. Has neurite extension activity ["1-32"] ["None"] AB004306 2564040 PTN Chromosome:7 7q33 PTN HGNC:9630 true 2020-06-12T23:06:59Z 2020-07-28T02:27:15Z 1 0 0 1813 CDBP01812 fMet-Leu-Phe receptor P21462 FPR1_HUMAN false false Receptor Homo_sapiens FPR1 350 38445.1 9.26 Involved in G-protein coupled receptor protein signaling pathway High affinity receptor for N-formyl-methionyl peptides, which are powerful neutrophils chemotactic factors. Binding of FMLP to the receptor causes activation of neutrophils. This response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system ["None"] ["28-50", "62-83", "101-121", "141-162", "206-226", "243-266", "286-305"] AC018755 9454516 FPR1 Chromosome:1 19q13.4 FPR1 HGNC:3826 true 2020-06-12T23:06:59Z 2020-07-28T02:27:15Z 1 0 0 1814 CDBP01813 Lutropin-choriogonadotropic hormone receptor P22888 LSHR_HUMAN true false Enzyme Homo_sapiens LHCGR 699 78642.0 8.58 Involved in G-protein coupled receptor protein signaling pathway Receptor for lutropin-choriogonadotropic hormone. The activity of this receptor is mediated by G proteins which activate adenylate cyclase ["1-26"] ["364-385", "396-416", "440-462", "483-505", "526-549", "571-594", "606-627"] M63108 187136 LHCGR Chromosome:2 2p21 LHCGR HGNC:6585 true 2020-06-12T23:06:59Z 2020-07-28T02:27:15Z 1 0 0 1815 CDBP01814 Sodium-dependent noradrenaline transporter P23975 SC6A2_HUMAN false true Transporter Homo_sapiens SLC6A2 617 69331.42 7.481 Involved in neurotransmitter:sodium symporter activity Amine transporter. Terminates the action of noradrenaline by its high affinity sodium-dependent reuptake into presynaptic terminals. M65105 SLC6A2 16 16q12.2 SLC6A2 HGNC:11048 true hsa:6530 NP_001034.1:NM_001043.3;NP_001165972.1:NM_001172501.1;NP_001165975.1:NM_001172504.1 Interacts with PRKCABP 2020-06-12T23:06:59Z 2020-06-12T23:06:59Z 0 0 0 1816 CDBP01815 G1/S-specific cyclin-D1 P24385 CCND1_HUMAN true false Enzyme Homo_sapiens CCND1 295 33728.7 4.68 Involved in protein kinase binding Essential for the control of the cell cycle at the G1/S (start) transition ["None"] ["None"] X59798 35632 CCND1 Chromosome:1 11q13 CCND1 HGNC:1582 true 2020-06-12T23:06:59Z 2020-06-12T23:06:59Z 0 0 0 1817 CDBP01816 Histamine H2 receptor P25021 HRH2_HUMAN true false Enzyme Homo_sapiens HRH2 359 40097.7 9.39 Involved in G-protein coupled receptor protein signaling pathway The H2 subclass of histamine receptors mediates gastric acid secretion. Also appears to regulate gastrointestinal motility and intestinal secretion. Possible role in regulating cell growth and differentiation. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and, through a separate G protein-dependent mechanism, the phosphoinositide/protein kinase (PKC) signaling pathway ["None"] ["23-44", "58-81", "93-114", "135-159", "181-204", "235-258", "268-289"] AY136744 22658471 HRH2 Chromosome:5 5q35.2 HRH2 HGNC:5183 true 2020-06-12T23:06:59Z 2020-07-28T02:27:15Z 1 0 0 1818 CDBP01817 N-formyl peptide receptor 2 P25090 FPR2_HUMAN false false Receptor Homo_sapiens FPR2 351 38963.8 7.99 Involved in G-protein coupled receptor protein signaling pathway Low affinity receptor for N-formyl-methionyl peptides, which are powerful neutrophils chemotactic factors. Binding of FMLP to the receptor causes activation of neutrophils. This response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system. The activation of LXA4R could result in an anti-inflammatory outcome counteracting the actions of proinflammatory signals such as LTB4 (leukotriene B4) ["None"] ["28-50", "62-83", "101-121", "141-162", "206-226", "243-266", "287-306"] AC018755 9454518 FPR2 Chromosome:1 19q13.3-q13.4 FPR2 HGNC:3827 true 2020-06-12T23:06:59Z 2020-07-28T02:27:15Z 1 0 0 1819 CDBP01818 Connective tissue growth factor P29279 CTGF_HUMAN true false Enzyme Homo_sapiens CTGF 349 38091.0 8.03 Involved in insulin-like growth factor binding Major connective tissue mitoattractant secreted by vascular endothelial cells. Promotes proliferation and differentiation of chondrocytes. Mediates heparin- and divalent cation-dependent cell adhesion in many cell types including fibroblasts, myofibroblasts, endothelial and epithelial cells. Enhances fibroblast growth factor-induced DNA synthesis ["1-26"] ["None"] NM_001901.2 4503123 CTGF Chromosome:6 6q23.1 CTGF HGNC:2500 true 2020-06-12T23:06:59Z 2020-06-12T23:06:59Z 0 0 0 1820 CDBP01819 Caspase-1 P29466 CASP1_HUMAN true false Enzyme Homo_sapiens CASP1 404 45158.2 5.71 Involved in protein binding Thiol protease that cleaves IL-1 beta between an Asp and an Ala, releasing the mature cytokine which is involved in a variety of inflammatory processes. Important for defense against pathogens. Cleaves and activates sterol regulatory element binding proteins (SREBPs). Can also promote apoptosis ["None"] ["None"] 1IBC X65019 33793 CASP1 Chromosome:1 11q23 CASP1 HGNC:1499 true 2020-06-12T23:06:59Z 2020-06-12T23:06:59Z 0 0 0 1821 CDBP01820 CD40 ligand P29965 CD40L_HUMAN true false Enzyme Homo_sapiens CD40LG 261 29273.3 8.46 Involved in tumor necrosis factor receptor binding Release of soluble CD40L from platelets is partially regulated by GP IIb/IIIa, actin polymerization, and an matrix metalloproteinases (MMP) inhibitor-sensitive pathway ["None"] ["23-46"] 1I9R X68550 37270 CD40LG CD40LG HGNC:11935 true 2020-06-12T23:06:59Z 2020-07-28T02:27:15Z 1 0 0 1822 CDBP01821 Type-1 angiotensin II receptor P30556 AGTR1_HUMAN false false Receptor Homo_sapiens AGTR1 359 41060.5 9.71 Involved in G-protein coupled receptor protein signaling pathway Receptor for angiotensin II. Mediates its action by association with G proteins that activate a phosphatidylinositol- calcium second messenger system ["None"] ["28-52", "65-87", "103-124", "143-162", "193-214", "241-262", "276-296"] M87290 AGTR1 Chromosome:3 3q24 AGTR1 HGNC:336 true 2020-06-12T23:06:59Z 2020-07-28T02:27:15Z 1 0 0 1823 CDBP01822 Sodium-dependent serotonin transporter P31645 SC6A4_HUMAN false true Transporter Homo_sapiens SLC6A4 630 70324.165 6.246 Involved in neurotransmitter:sodium symporter activity Serotonin transporter whose primary function in the central nervous system involves the regulation of serotonergic signaling via transport of serotonin molecules from the synaptic cleft back into the pre-synaptic terminal for re-utilization. Plays a key role in mediating regulation of the availability of serotonin to other receptors of serotonergic systems. Terminates the action of serotonin and recycles it in a sodium-dependent manner. X70697 36433 SLC6A4 17 17q11.2 SLC6A4 HGNC:11050 true hsa:6532 NP_001036.1:NM_001045.5 Expressed in platelets (at protein level). Monomer or homooligomer . Interacts with TGFB1I1. Interacts (via sialylated form) with MYH9. Interacts with SEC23A, SEC24C and INADL. Interacts with NOS1; the interaction may diminish the cell surface localization of SERT in the brain and, correspondingly, reduce serotonin reuptake. Interacts with filamentous actin and STX1A (By similarity). Interacts (via C-terminus) with VIM. Interacts (via C-terminus) with SCAMP2; the interaction is direct and retains transporter molecules intracellularly. Interacts with RAB4 (GTP-bound form); the interaction retains transporter molecules intracellularly 2020-06-12T23:06:59Z 2020-06-12T23:06:59Z 0 0 0 1824 CDBP01823 N-acetylgalactosamine-6-sulfatase P34059 GALNS_HUMAN true false Enzyme Homo_sapiens GALNS 522 Involved in catalytic activity 4FDI;4FDJ BC050684 37589093 GALNS GALNS HGNC:4122 true hsa:2588 HS06790-MONOMER NP_000503.1:NM_000512.4 calcium ion Oligomer of disulfide linked 40- and 15 kDa polypeptides 2020-06-12T23:06:59Z 2020-07-28T02:27:15Z 0 1 0 1825 CDBP01824 Catenin beta-1 P35222 CTNB1_HUMAN true false Enzyme Homo_sapiens CTNNB1 781 85495.9 5.71 Involved in binding Involved in signal transduction through the Wnt pathway. Nuclear beta-catenin it involved in transcriptional regulation by association with transcription factors of the TCF/LEF family ["None"] ["None"] 1V18 X87838 860988 CTNNB1 Chromosome:3 3p21 CTNNB1 HGNC:2514 true 2020-06-12T23:06:59Z 2020-06-12T23:06:59Z 0 0 0 1826 CDBP01825 Peroxisome proliferator-activated receptor gamma P37231 PPARG_HUMAN true false Enzyme Homo_sapiens PPARG 505 57619.6 5.77 Involved in DNA binding Receptor that binds peroxisome proliferators such as hypolipidemic drugs and fatty acids. Once activated by a ligand, the receptor binds to a promoter element in the gene for acyl-CoA oxidase and activates its transcription. It therefore controls the peroxisomal beta-oxidation pathway of fatty acids. Key regulator of adipocyte differentiation and glucose homeostasis ["None"] ["None"] 1I7I U79012 86451955 PPARG Chromosome:3 3p25 PPARG HGNC:9236 true 2020-06-12T23:06:59Z 2020-07-28T02:27:15Z 1 1 1 1827 CDBP01826 Glial cell line-derived neurotrophic factor P39905 GDNF_HUMAN false false Receptor Homo_sapiens GDNF 211 23719.8 9.34 Involved in growth factor activity Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake ["1-19"] ["None"] 1AGQ NM_000514.3 4503975 GDNF Chromosome:5 5p13.1-p12 GDNF HGNC:4232 true 2020-06-12T23:06:59Z 2020-07-28T02:32:17Z 1 0 0 1828 CDBP01827 Metabotropic glutamate receptor 5 P41594 GRM5_HUMAN false false Receptor Homo_sapiens GRM5 1212 132467.6 7.82 Involved in G-protein coupled receptor activity Receptor for glutamate. The activity of this receptor is mediated by a G-protein that activates a phosphatidylinositol- calcium second messenger system and generates a calcium-activated chloride current ["1-20"] ["580-602", "617-637", "649-667", "694-714", "738-759", "773-795", "802-827"] NM_001143831.2 219842343 GRM5 Chromosome:1 11q14.3 GRM5 HGNC:4597 true 2020-06-12T23:06:59Z 2020-07-28T02:27:16Z 1 0 0 1829 CDBP01828 Collagenase 3 P45452 MMP13_HUMAN true false Enzyme Homo_sapiens MMP13 471 53819.3 5.31 Involved in calcium ion binding Degrades collagen type I. Does not act on gelatin or casein. Could have a role in tumoral process ["1-19"] ["None"] X75308 516386 MMP13 Chromosome:1 11q22.3 true 2020-06-12T23:06:59Z 2020-07-28T02:27:16Z 0 1 0 1830 CDBP01829 Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform P46020 KPB1_HUMAN true false Enzyme Homo_sapiens PHKA1 1223 137310.8 6.12 Involved in calmodulin binding Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin ["None"] ["None"] NM_002637.3 169881273 PHKA1 true 2020-06-12T23:06:59Z 2020-07-28T02:27:16Z 0 0 0 1831 CDBP01830 Alpha-S1-casein P47710 CASA1_HUMAN true true Enzyme Homo_sapiens CSN1S1 185 21671.3 5.08 Involved in transporter activity Casoxin D acts as opioid antagonist and has vasorelaxing activity mediated by bradykinin B1 receptors ["1-15"] ["None"] X78416 854086 CSN1S1 Chromosome:4 4q21.1 CSN1S1 HGNC:2445 true 2020-06-12T23:06:59Z 2020-07-28T02:27:16Z 0 0 0 1832 CDBP01831 Phosphatidylserine synthase 1 P48651 PTSS1_HUMAN true false Enzyme Homo_sapiens PTDSS1 473 55527.18 8.421 Involved in phosphatidylserine biosynthetic process Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine. In membranes, PTDSS1 catalyzes mainly the conversion of phosphatidylcholine. Also converts, in vitro and to a lesser extent, phosphatidylethanolamine. D14694 PTDSS1 8 8q22 PTDSS1 HGNC:9587 true hsa:9791 HS08129-MONOMER NP_055569.1:NM_014754.1 2020-06-12T23:06:59Z 2020-06-12T23:06:59Z 0 0 0 1833 CDBP01832 Histone deacetylase 4 P56524 HDAC4_HUMAN true false Enzyme Homo_sapiens HDAC4 1084 119038.9 6.96 Involved in histone deacetylase activity Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Involved in muscle maturation via its interaction with the myocyte enhancer factors such as MEF2A, MEF2C and MEF2D ["None"] ["None"] NM_006037.3 153085395 HDAC4 Chromosome:2 2q37.3 HDAC4 HGNC:14063 true 2020-06-12T23:06:59Z 2020-06-12T23:06:59Z 0 0 0 1834 CDBP01833 Beta-2-microglobulin precursor [Contains: Beta-2-microglobulin variant pI 5.3] P61769 B2MG_HUMAN true false Enzyme Homo_sapiens B2M 119 13715.0 6.51 Beta-2-microglobulin is the beta-chain of major histocompatibility complex class I molecules ["1-20"] 1YPZ M17987 179318 B2M Chromosome:15 15q21-q22.2 B2M HGNC:914 true 2020-06-12T23:06:59Z 2020-06-12T23:06:59Z 0 0 0 1835 CDBP01834 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-11 P61952 GBG11_HUMAN false false Receptor Homo_sapiens GNG11 73 8480.7 5.23 Involved in signal transducer activity Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction ["None"] ["None"] AC002076 41393495 GNG11 Chromosome:7 7q21 GNG11 HGNC:4403 true 2020-06-12T23:06:59Z 2020-07-28T02:32:17Z 1 0 0 1836 CDBP01835 Nucleobindin-2 P80303 NUCB2_HUMAN false false Metal Binding Homo_sapiens NUCB2 420 50195.4 4.78 Cell cycle control, cell division, chromosome partitioning Calcium-binding protein. May have a role in calcium homeostasis ["1-24"] ["None"] NM_005013.2 4826870 NUCB2 Chromosome:1 11p15.1 true 2020-06-12T23:06:59Z 2020-07-28T02:31:58Z 0 1 0 1837 CDBP01836 DNA topoisomerase 2-beta Q02880 TOP2B_HUMAN true false Enzyme Homo_sapiens TOP2B 1626 183265.8 8.16 Involved in sequence-specific DNA binding transcription factor activity Control of topological states of DNA by transient breakage and subsequent rejoining of DNA strands. Topoisomerase II makes double-strand breaks. Indirectly ivolved in vitamin D- coupled transcription regulation via its association with the WINAC complex, a chromatin-remodeling complex recruited by vitamin D receptor (VDR), which is required for the ligand-bound VDR- mediated transrepression of the CYP27B1 gene ["None"] ["None"] 19913408 TOP2B Chromosome:3 3p24 TOP2B HGNC:11990 true 2020-06-12T23:06:59Z 2020-06-12T23:06:59Z 0 0 0 1838 CDBP01837 Peroxisome proliferator-activated receptor alpha Q07869 PPARA_HUMAN true false Enzyme Homo_sapiens PPARA 468 52224.6 6.2 Involved in DNA binding Ligand-activated transcription factor. Key regulator of lipid metabolism. Activated by the endogenous ligand 1-palmitoyl- 2-oleoyl-sn-glycerol-3-phosphocholine (16:0/18:1-GPC). Activated by oleylethanolamide, a naturally occurring lipid that regulates satiety. Receptor for peroxisome proliferators such as hypolipidemic drugs and fatty acids. Once activated by a ligand, the receptor binds to promoter elements of target genes. Regulates the peroxisomal beta-oxidation pathway of fatty acids. Functions as transcription activator for the acyl-CoA oxidase gene ["None"] ["None"] 1K7L AB307690 216409688 PPARA Chromosome:2 22q12-q13.1|22q13.31 PPARA HGNC:9232 true 2020-06-12T23:06:59Z 2020-07-28T02:27:16Z 1 1 1 1839 CDBP01838 Mitochondrial-processing peptidase subunit alpha Q10713 MPPA_HUMAN true false Enzyme Homo_sapiens PMPCA 525 58252.4 6.91 Involved in catalytic activity Cleaves presequences (transit peptides) from mitochondrial protein precursors ["None"] ["None"] NM_015160.1 24308013 PMPCA Chromosome:9 9q34.3 PMPCA HGNC:18667 true 2020-06-12T23:06:59Z 2020-07-28T02:27:16Z 0 1 0 1840 CDBP01839 CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1 Q11201 SIA4A_HUMAN true false Enzyme Homo_sapiens ST3GAL1 340 39074.745 9.081 Involved in beta-galactoside alpha-2,3-sialyltransferas It may be responsible for the synthesis of the sequence NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc- found on sugar chains O-linked to Thr or Ser and also as a terminal sequence on certain gangliosides. SIAT4A and SIAT4B sialylate the same acceptor substrates but exhibit different Km values. AF059321 3169564 ST3GAL1 8 8q24.22 HGNC:10862 true hsa:6482 NP_003024.1:NM_003033.3;NP_775479.1:NM_173344.2 Expressed in several tissues. Highest expression in lung, liver, skeletal muscle, kidney, pancreas, spleen and placenta. 2020-06-12T23:06:59Z 2020-06-12T23:06:59Z 0 0 0 1841 CDBP01840 Potassium voltage-gated channel subfamily H member 2 Q12809 KCNH2_HUMAN false true Enzyme Homo_sapiens KCNH2 1159 126653.5 7.97 Involved in ion channel activity Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel. Channel properties are modulated by cAMP and subunit assembly. Mediates the rapidly activating component of the delayed rectifying potassium current in heart (IKr). Isoform 3 has no channel activity by itself, but modulates channel characteristics when associated with isoform 1 ["None"] ["404-424", "451-471", "496-516", "521-541", "548-568", "639-659"] 1BYW U04270 KCNH2 Chromosome:7 7q36.1 KCNH2 HGNC:6251 true 2020-06-12T23:06:59Z 2020-07-28T02:33:40Z 0 0 1 1842 CDBP01841 Metabotropic glutamate receptor 1 Q13255 GRM1_HUMAN false false Receptor Homo_sapiens GRM1 1194 132365.9 6.67 Involved in G-protein coupled receptor activity Receptor for glutamate. The activity of this receptor is mediated by a G-protein that activates a phosphatidylinositol- calcium second messenger system. May participate in the central action of glutamate in the CNS, such as long-term potentiation in the hippocampus and long-term depression in the cerebellum ["1-18"] ["593-615", "630-650", "662-680", "707-727", "751-772", "786-808", "815-840"] 1ISS AL035698 56203019 GRM1 Chromosome:6 6q24 GRM1 HGNC:4593 true 2020-06-12T23:06:59Z 2020-07-28T02:27:17Z 1 0 0 1843 CDBP01842 C-terminal-binding protein 1 Q13363 CTBP1_HUMAN false false Enzyme Homo_sapiens CTBP1 440 47534.9 6.76 Involved in oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor Involved in controlling the equilibrium between tubular and stacked structures in the Golgi complex. Functions in brown adipose tissue (BAT) differentiation. Corepressor targeting diverse transcription regulators such as GLIS2. Has dehydrogenase activity ["None"] ["None"] 1HL3 U37408 CTBP1 Chromosome:4 4p16 CTBP1 HGNC:2494 true 2020-06-12T23:06:59Z 2020-07-28T02:33:40Z 0 0 0 1844 CDBP01843 Tubulin beta-3 chain Q13509 TBB3_HUMAN false false Enzyme Homo_sapiens TUBB3 450 50432.4 4.57 Involved in structural molecule activity Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha-chain. TUBB3 plays a critical role in proper axon guidance and mantainance ["None"] ["None"] 1SA1 AF427491 16755780 TUBB3 Chromosome:1 16q24.3 TUBB3 HGNC:20772 true 2020-06-12T23:06:59Z 2020-07-28T02:33:40Z 0 0 0 1845 CDBP01844 5-hydroxytryptamine receptor 4 Q13639 5HT4R_HUMAN true false Enzyme Homo_sapiens HTR4 388 43761.0 7.82 Involved in G-protein coupled receptor protein signaling pathway This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins that stimulate adenylate cyclase ["None"] ["20-40", "59-79", "94-116", "138-158", "193-213", "261-281", "295-315"] Y08756 2661733 HTR4 Chromosome:5 5q31-q33 HTR4 HGNC:5299 true 2020-06-12T23:06:59Z 2020-07-28T02:27:17Z 1 0 0 1846 CDBP01845 Voltage-dependent L-type calcium channel subunit alpha-1C Q13936 CAC1C_HUMAN false true Transporter Homo_sapiens CACNA1C 2221 248974.1 6.74 Involved in ion channel activity Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1C gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin- GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA). Calcium channels containing the alpha-1C subunit play an important role in excitation-contraction coupling in the heart. The various isoforms display marked differences in the sensitivity to DHP compounds. Binding of calmodulin or CABP1 at the same regulatory sites results in an opposit effects on the channel function ["None"] ["125-143", "161-181", "194-212", "233-251", "271-290", "381-405", "525-543", "559-578", "587-605", "616-634", "654-673", "729-753", "901-919", "936-955", "988-1006", "1014-1032", "1052-1071", "1162-1186", "1240-1258", "1274-1293", "1302-1320", "1373-1391", "1411-1430", "1500-1524"] 1VYT NM_199460.2 193788720 CACNA1C Chromosome:1 12p13.3 CACNA1C HGNC:1390 true 2020-06-12T23:06:59Z 2020-07-28T02:32:08Z 0 0 0 1847 CDBP01846 Cocaine- and amphetamine-regulated transcript protein Q16568 CART_HUMAN true false Enzyme Homo_sapiens CARTPT 116 12829.0 8.37 Involved in protein binding Satiety factor closely associated with the actions of leptin and neuropeptide y; this anorectic peptide inhibits both normal and starvation-induced feeding and completely blocks the feeding response induced by neuropeptide Y and regulated by leptin in the hypothalamus. It promotes neuronal development and survival in vitro ["1-27"] ["None"] 1HY9 U16826 CARTPT Chromosome:5 5q13.2 CARTPT HGNC:24323 true 2020-06-12T23:06:59Z 2020-07-28T02:27:17Z 1 0 0 1848 CDBP01847 Transient receptor potential cation channel subfamily M member 8 Q7Z2W7 TRPM8_HUMAN false true Receptor Homo_sapiens TRPM8 1104 127684.0 7.25 Involved in ion channel activity Receptor-activated non-selective cation channel involved in detection of sensations such as coolness, by being activated by cold temperature below 25 degrees Celsius. Activated by icilin, eucalyptol, menthol, cold and modulation of intracellular pH. Involved in menthol sensation. Permeable for monovalent cations sodium, potassium, and cesium and divalent cation calcium. Temperature sensing is tightly linked to voltage-dependent gating. Activated upon depolarization, changes in temperature resulting in graded shifts of its voltage-dependent activation curves. The chemical agonists menthol functions as a gating modifier, shifting activation curves towards physiological membrane potentials. Temperature sensitivity arises from a tenfold difference in the activation energies associated with voltage-dependent opening and closing ["None"] ["692-712", "735-755", "760-780", "795-815", "830-850", "959-979"] AY090109 20147036 TRPM8 Chromosome:2 2q37.1 TRPM8 HGNC:17961 true 2020-06-12T23:06:59Z 2020-07-28T02:27:17Z 1 0 0 1849 CDBP01848 Transient receptor potential cation channel subfamily V member 1 Q8NER1 TRPV1_HUMAN false true Receptor Homo_sapiens TRPV1 839 94955.3 7.26 Involved in ion channel activity Receptor-activated non-selective calcium permeant cation channel involved in detection of noxious chemical and thermal stimuli. Seems to mediate proton influx and may be involved in intracellular acidosis in nociceptive neurons. May be involved in mediation of inflammatory pain and hyperalgesia. Sensitized by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases, which involves PKC isozymes and PCL ["None"] ["434-454", "477-497", "514-534", "536-556", "580-600", "660-680"] AJ277028 8977866 TRPV1 Chromosome:1 17p13.2 TRPV1 HGNC:12716 true 2020-06-12T23:07:00Z 2020-07-28T02:27:17Z 1 0 0 1850 CDBP01849 Scavenger receptor class B member 1 Q8WTV0 SCRB1_HUMAN true false Enzyme Homo_sapiens SCARB1 552 60877.4 8.31 Involved in cell adhesion Receptor for different ligands such as phospholipids, cholesterol ester, lipoproteins, phosphatidylserine and apoptotic cells. Probable receptor for HDL, located in particular region of the plasma membrane, called caveolae. Facilitates the flux of free and esterified cholesterol between the cell surface and extracellular donors and acceptors, such as HDL and to a lesser extent, apoB-containing lipoproteins and modified lipoproteins. Probably involved in the phagocytosis of apoptotic cells, via its phosphatidylserine binding activity. Receptor for hepatitis C virus glycoprotein E2. Binding between SCARB1 and E2 was found to be independent of the genotype of the viral isolate. Plays an important role in the uptake of HDL cholesteryl ester ["None"] ["12-32", "444-464"] 132566684 SCARB1 Chromosome:1 12q24.31 SCARB1 HGNC:1664 true 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1851 CDBP01850 Arginine decarboxylase Q96A70 ADC_HUMAN true false Enzyme Homo_sapiens ADC 460 49979.185 5.651 Involved in catalytic activity Decarboxylates L-arginine to agmatine. Truncated splice isoforms probably lack activity. AY050634 ADC 1 1p35.1 ADC HGNC:29957 true hsa:113451 NP_443724.1:NM_052998.2 Highly expressed in brain. Also expressed in testis. Pyridoxal phosphate 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1852 CDBP01851 Calcium-binding protein p22 Q99653 CHP1_HUMAN false false Metal Binding Homo_sapiens CHP 195 22456.0 4.73 Involved in calcium ion binding Required for constitutive membrane traffic. Inhibits GTPase-stimulated Na(+)/H(+) exchange. Also inhibits calcineurin phosphatase activity. Required for activity of SLC9A1/NHE1 ["None"] ["None"] AK312582 189069138 CHP Chromosome:1 15q13.3 true 2020-06-12T23:07:00Z 2020-07-28T02:31:58Z 0 1 0 1853 CDBP01852 Vitamin K epoxide reductase complex subunit 1 Q9BQB6 VKOR1_HUMAN true false Enzyme Homo_sapiens VKORC1 163 18234.3 9.361 Involved in vitamin-K-epoxide reductase (warfarin-sensi Involved in vitamin K metabolism. Catalytic subunit of the vitamin K epoxide reductase (VKOR) complex which reduces inactive vitamin K 2,3-epoxide to active vitamin K. AY423044 40217983 VKORC1 16 16p11.2 VKORC1 HGNC:23663 true hsa:79001 NP_076869.1:NM_024006.4;NP_996560.1:NM_206824.1 Expressed at highest levels in fetal and adult liver, followed by fetal heart, kidney, and lung, adult heart, and pancreas. 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1854 CDBP01853 P2Y purinoceptor 12 Q9H244 P2Y12_HUMAN true false Enzyme Homo_sapiens P2RY12 342 39438.4 9.99 Involved in G-protein coupled receptor protein signaling pathway Receptor for ADP and ATP coupled to G-proteins that inhibit the adenylyl cyclase second messenger system. Not activated by UDP and UTP. Involved in platelets aggregation ["None"] ["26-46", "59-79", "100-120", "143-163", "192-212", "234-254", "282-302"] AF313449 P2RY12 Chromosome:3 3q24-q25 P2RY12 HGNC:18124 true 2020-06-12T23:07:00Z 2020-07-28T02:27:17Z 1 0 0 1855 CDBP01854 Potassium voltage-gated channel subfamily H member 6 Q9H252 KCNH6_HUMAN false true Enzyme Homo_sapiens KCNH6 994 109923.7 7.0 Involved in ion channel activity Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a slowly activating, rectifying current. Channel properties may be modulated by cAMP and subunit assembly ["None"] ["262-282", "299-319", "341-361", "371-391", "399-419", "491-511"] AF311913 KCNH6 Chromosome:1 17q23.3 KCNH6 HGNC:18862 true 2020-06-12T23:07:00Z 2020-07-28T02:33:40Z 0 0 1 1856 CDBP01855 C-X-C motif chemokine 16 Q9H2A7 CXL16_HUMAN false false Enzyme Homo_sapiens CXCL16 254 27578.3 8.91 Involved in chemokine activity Acts as a scavenger receptor on macrophages, which specifically binds to OxLDL (oxidized low density lipoprotein), suggesting that it may be involved in pathophysiology such as atherogenesis. Induces a strong chemotactic response. Induces calcium mobilization. Binds to CXCR6/Bonzo ["1-29"] ["206-226"] AF275260 11139544 CXCL16 Chromosome:1 17p13 true 2020-06-12T23:07:00Z 2020-07-28T02:33:40Z 0 0 0 1857 CDBP01856 Ras association domain-containing protein 1 Q9NS23 RASF1_HUMAN false false Enzyme Homo_sapiens RASSF1 344 39218.6 9.19 Involved in intracellular signaling pathway Potential tumor suppressor. Required for death receptor- dependent apoptosis. Mediates activation of STK4 during Fas- induced apoptosis. When associated with MOAP1, promotes BAX conformational change and translocation to mitochondrial membranes in response to TNF and TNFSF10 stimulation. Isoform A interacts with CDC20, an activator of the anaphase-promoting complex, APC, resulting in the inhibition of APC activity and mitotic progression. Inhibits proliferation by negatively regulating cell cycle progression at the level of G1/S-phase transition by regulating accumulation of cyclin D1 protein. Isoform C has been shown not to perform these roles, no function has been identified for this isoform. Isoform A disrupts interactions among MDM2, DAXX and USP7, thus contributing to the efficient activation of TP53 by promoting MDM2 self-ubiquitination in cell-cycle checkpoint control in response to DNA damage ["None"] ["None"] NM_170714.1 25777684 RASSF1 Chromosome:3 3p21.3 RASSF1 HGNC:9882 true 2020-06-12T23:07:00Z 2020-07-28T02:33:40Z 0 0 0 1858 CDBP01857 Homer protein homolog 2 Q9NSB8 HOME2_HUMAN false false Enzyme Homo_sapiens HOMER2 354 40627.0 6.3 Cell cycle control, cell division, chromosome partitioning Postsynaptic density scaffolding protein. Binds and cross-links cytoplasmic regions of GRM1, GRM5, ITPR1, DNM3, RYR1, RYR2, SHANK1 and SHANK3. By physically linking GRM1 and GRM5 with ER-associated ITPR1 receptors, it aids the coupling of surface receptors to intracellular calcium release. May also couple GRM1 to PI3 kinase through its interaction with AGAP2. Isoforms can be differently regulated and may play an important role in maintaining the plasticity at glutamatergic synapses ["None"] ["None"] NM_199330.1 46249351 HOMER2 Chromosome:1 15q24.3 HOMER2 HGNC:17513 true 2020-06-12T23:07:00Z 2020-07-28T02:33:40Z 0 0 0 1859 CDBP01858 Methyl-CpG-binding domain protein 2 Q9UBB5 MBD2_HUMAN false false Enzyme Homo_sapiens MBD2 411 43254.3 10.76 Involved in DNA binding Binds CpG islands in promoters where the DNA is methylated at position 5 of cytosine within CpG dinucleotides. Binds hemi-methylated DNA as well. Recruits histone deacetylases and DNA methyltransferases. Acts as transcriptional repressor and plays a role in gene silencing. Isoform 1 may enhance the activation of some unmethylated cAMP-responsive promoters. Reports about DNA demethylase activity of isoform 2 are contradictory ["None"] ["None"] AF072242 3800793 MBD2 Chromosome:1 18q21 MBD2 HGNC:6917 true 2020-06-12T23:07:00Z 2020-07-28T02:33:40Z 0 0 0 1860 CDBP01859 DNA (cytosine-5)-methyltransferase 3B Q9UBC3 DNM3B_HUMAN true false Enzyme Homo_sapiens DNMT3B 853 81309.795 7.035 Involved in DNA binding Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. May preferentially methylates nucleosomal DNA within the nucleosome core region. May function as transcriptional co-repressor by associating with CBX4 and independently of DNA methylation. Seems to be involved in gene silencing (By similarity). In association with DNMT1 and via the recruitment of CTCFL/BORIS, involved in activation of BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 and H3K9. Isoforms 4 and 5 are probably not functional due to the deletion of two conserved methyltransferase motifs. Function as transcriptional corepressor by associating with ZHX1. 3FLG;3QKJ NM_006892.3 5901940 DNMT3B 20 20q11.2 DNMT3B HGNC:2979 true hsa:1789 NP_001193984.1:NM_001207055.1;NP_001193985.1:NM_001207056.1;NP_008823.1:NM_006892.3;NP_787044.1:NM_175848.1;NP_787045.1:NM_175849.1;NP_787046.1:NM_175850.2 Ubiquitous; highly expressed in fetal liver, heart, kidney, placenta, and at lower levels in spleen, colon, brain, liver, small intestine, lung, peripheral blood mononuclear cells, and skeletal muscle. Isoform 1 is expressed in all tissues except brain, skeletal muscle and PBMC, 3 is ubiquitous, 4 is expressed in all tissues except brain, skeletal muscle, lung and prostate and 5 is detectable only in testis and at very low level in brain and prostate. Interacts with BAZ2A/TIP5, SUV39H1 and CBX4. Interacts with UHRF1 . Interacts with DNMT1 and DNMT3A, SETDB1, UBL1, UBE2I9 and ZHX1. Interacts with the PRC2/EED-EZH2 complex 2020-06-12T23:07:00Z 2020-07-28T02:27:17Z 0 1 1 1861 CDBP01860 Phosphatidylserine decarboxylase proenzyme Q9UG56 PISD_HUMAN true false Enzyme Homo_sapiens PISD 408 43046.33 9.703 Involved in phosphatidylserine decarboxylase activity NM_014338 13489112 PISD 22 22q12.2 PISD HGNC:8999 true hsa:23761 HS01985-MONOMER NP_055153.1:NM_014338.3 Pyruvoyl group Heterodimer 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1862 CDBP01861 Histone deacetylase 9 Q9UKV0 HDAC9_HUMAN true false Enzyme Homo_sapiens HDAC9 1011 111296.3 6.88 Involved in histone deacetylase activity Isoform 3 lacks active site residues and therefore is catalytically inactive. Represses MEF2-dependent transcription by recruiting HDAC1 and/or HDAC3. Seems to inhibit skeletal myogenesis and to be involved in heart development. Protects neurons from apoptosis, both by inhibiting JUN phosphorylation by MAPK10 and by repressing JUN transcription via HDAC1 recruitment to JUN promoter ["None"] ["None"] AY032737 15590680 HDAC9 Chromosome:7 7p21.1 HDAC9 HGNC:14065 true 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1863 CDBP01862 ATP-binding cassette sub-family G member 2 Q9UNQ0 ABCG2_HUMAN false true Transporter Homo_sapiens ABCG2 655 72313.5 8.9 Involved in ATP binding Xenobiotic transporter that may play an important role in the exclusion of xenobiotics from the brain. May be involved in brain-to-blood efflux. Appears to play a major role in the multidrug resistance phenotype of several cancer cell lines. When overexpressed, the transfected cells become resistant to mitoxantrone, daunorubicin and doxorubicin, display diminished intracellular accumulation of daunorubicin, and manifest an ATP- dependent increase in the efflux of rhodamine 123 ["None"] ["396-416", "429-449", "478-498", "507-527", "536-556", "631-651"] AB051855 13928392 ABCG2 Chromosome:4 4q22 ABCG2 HGNC:74 true 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1864 CDBP01863 Cysteinyl leukotriene receptor 1 Q9Y271 CLTR1_HUMAN false false Receptor Homo_sapiens CYSLTR1 337 38540.5 9.68 Involved in G-protein coupled receptor protein signaling pathway Receptor for cysteinyl leukotrienes mediating bronchoconstriction of individuals with and without asthma. Stimulation by LTD4 results in the contraction and proliferation of smooth muscle, edema, eosinophil migration and damage to the mucus layer in the lung. This response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system. The rank order of affinities for the leukotrienes is LTD4 >> LTE4 = LTC4 >> LTB4 ["None"] ["29-49", "58-78", "107-127", "142-162", "194-214", "231-251", "277-297"] AF119711 CYSLTR1 CYSLTR1 HGNC:17451 true 2020-06-12T23:07:00Z 2020-07-28T02:27:18Z 1 0 0 1865 CDBP01864 Gamma-aminobutyric acid receptor subunit gamma-2 P18507 GBRG2_HUMAN false true Receptor Homo_sapiens GABRG2 467 54161.8 8.6 Involved in ion transport GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel ["1-39"] ["274-296", "300-322", "334-356", "444-466"] X15376 31637 GABRG2 Chromosome:5 5q34 GABRG2 HGNC:4087 true 2020-06-12T23:07:00Z 2020-07-28T02:27:18Z 1 0 0 1866 CDBP01865 Endothelin-1 receptor P25101 EDNRA_HUMAN false false Receptor Homo_sapiens EDNRA 427 48721.8 8.41 Involved in G-protein coupled receptor protein signaling pathway Receptor for endothelin-1. Mediates its action by association with G proteins that activate a phosphatidylinositol- calcium second messenger system. The rank order of binding affinities for ET-A is:ET1 > ET2 >> ET3 ["1-20"] ["81-102", "113-132", "160-181", "206-229", "257-278", "307-328", "348-372"] S63938 EDNRA Chromosome:4 4q31.22 EDNRA HGNC:3179 true 2020-06-12T23:07:00Z 2020-07-28T02:27:18Z 1 0 0 1867 CDBP01866 Amiloride-sensitive sodium channel subunit alpha P37088 SCNNA_HUMAN false true Transporter Homo_sapiens SCNN1A 669 75703.1 7.54 Involved in ligand-gated sodium channel activity Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception ["None"] ["86-106", "563-583"] X76180 452650 SCNN1A Chromosome:1 12p13 SCNN1A HGNC:10599 true 2020-06-12T23:07:00Z 2020-07-28T02:32:08Z 0 0 0 1868 CDBP01867 5-hydroxytryptamine receptor 7 P34969 5HT7R_HUMAN true false Enzyme Homo_sapiens HTR7 479 53554.4 8.97 Involved in G-protein coupled receptor protein signaling pathway This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins that stimulate adenylate cyclase ["None"] ["84-104", "118-138", "158-178", "202-222", "237-257", "326-346", "368-388"] NM_019859.3 10880129 HTR7 Chromosome:1 10q21-q24 HTR7 HGNC:5302 true 2020-06-12T23:07:00Z 2020-07-28T02:27:18Z 1 0 0 1869 CDBP01868 Cytochrome b-c1 complex subunit 8 O14949 QCR8_HUMAN true true Enzyme Homo_sapiens UQCRQ 82 9906.3 10.5 Involved in ubiquinol-cytochrome-c reductase activity This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This subunit, together with cytochrome b, binds to ubiquinone ["None"] ["None"] BC001390 12655079 UQCRQ Chromosome:5 5q31.1 UQCRQ HGNC:29594 true 2020-06-12T23:07:00Z 2020-07-28T02:27:18Z 0 0 0 1870 CDBP01869 Eukaryotic translation initiation factor 2 subunit 1 P05198 IF2A_HUMAN false false Enzyme Homo_sapiens EIF2S1 315 36111.8 4.73 Translation, ribosomal structure and biogenesis Functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA. This complex binds to a 40S ribosomal subunit, followed by mRNA binding to form a 43S preinitiation complex. Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF-2 and release of an eIF-2-GDP binary complex. In order for eIF-2 to recycle and catalyze another round of initiation, the GDP bound to eIF-2 must exchange with GTP by way of a reaction catalyzed by eIF-2B ["None"] ["None"] 1Q8K BC002513 12803385 EIF2S1 Chromosome:1 14q23.3 true 2020-06-12T23:07:00Z 2020-07-28T02:33:40Z 0 0 0 1871 CDBP01870 Annexin A2 P07355 ANXA2_HUMAN false false Metal Binding Homo_sapiens ANXA2 339 38603.6 7.91 Involved in calcium ion binding Calcium-regulated membrane-binding protein whose affinity for calcium is greatly enhanced by anionic phospholipids. It binds two calcium ions with high affinity. May be involved in heat-stress response ["None"] ["None"] 1W7B D00017 ANXA2 Chromosome:1 15q22.2 ANXA2 HGNC:537 true 2020-06-12T23:07:00Z 2020-07-28T02:31:58Z 0 1 0 1872 CDBP01871 Sodium- and chloride-dependent GABA transporter 3 P48066 S6A11_HUMAN false true Transporter Homo_sapiens SLC6A11 632 70605.145 6.889 Involved in neurotransmitter:sodium symporter activity Terminates the action of GABA by its high affinity sodium-dependent reuptake into presynaptic terminals. AK312719 189053427 SLC6A11 3 3p25.3 SLC6A11 HGNC:11044 true hsa:6538 NP_055044.1:NM_014229.1 Widespread distribution in the brain. 2020-06-12T23:07:00Z 2020-07-28T02:32:08Z 0 0 0 1873 CDBP01872 E3 ubiquitin-protein ligase NEDD4-like Q96PU5 NED4L_HUMAN true false Enzyme Homo_sapiens NEDD4L 975 111930.9 5.6 Involved in acid-amino acid ligase activity E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Inhibits TGF-beta signaling by triggering SMAD2 and TGFR1 ubiquitination and proteasome-dependent degradation. Promotes ubiquitination and internalization of various plasma membrane channels such as ENaC, Nav1.2, Nav1.3, Nav1.5, Nav1.7, Nav1.8, Kv1.3, EAAT1 or CLC5. Promotes ubiquitination and degradation of SGK ["None"] ["None"] NM_001144967.1 222352086 NEDD4L Chromosome:1 18q21 NEDD4L HGNC:7728 true 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1874 CDBP01873 Apoptotic protease-activating factor 1 O14727 APAF_HUMAN true false Enzyme Homo_sapiens APAF1 1248 141838.8 6.37 Involved in protein binding Oligomeric Apaf-1 mediates the cytochrome c-dependent autocatalytic activation of pro-caspase-9 (Apaf-3), leading to the activation of caspase-3 and apoptosis. This activation requires ATP. Isoform 6 is less effective in inducing apoptosis ["None"] ["None"] 1Z6T NM_181861.1 32483359 APAF1 Chromosome:1 12q23 APAF1 HGNC:576 true 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1875 CDBP01874 Cathepsin D P07339 CATD_HUMAN true false Enzyme Homo_sapiens CTSD 412 44551.8 6.5 Involved in aspartic-type endopeptidase activity Acid protease active in intracellular protein breakdown. Involved in the pathogenesis of several diseases such as breast cancer and possibly Alzheimer disease ["1-18"] ["None"] 1LYW M11233 181180 CTSD Chromosome:1 11p15.5 CTSD HGNC:2529 true 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1876 CDBP01875 Protein S100-A9 P06702 S10A9_HUMAN false false Metal Binding Homo_sapiens S100A9 114 13242.0 6.08 Involved in calcium ion binding Calcium-binding protein. Has antimicrobial activity towards bacteria and fungi. Important for resistance to invasion by pathogenic bacteria. Up-regulates transcription of genes that are under the control of NF-kappa-B. Plays a role in the development of endotoxic shock in response to bacterial lipopolysaccharide (LPS). Promotes tubulin polymerization when unphosphorylated. Promotes phagocyte migration and infiltration of granulocytes at sites of wounding. Plays a role as a pro-inflammatory mediator in acute and chronic inflammation and up-regulates the release of IL8 and cell-surface expression of ICAM1. Extracellular calprotectin binds to target cells and promotes apoptosis. Antimicrobial and proapoptotic activity is inhibited by zinc ions ["None"] ["None"] 1IRJ X06233 34771 S100A9 Chromosome:1 1q21 S100A9 HGNC:10499 true 2020-06-12T23:07:00Z 2020-07-28T02:31:58Z 0 1 0 1877 CDBP01876 Interleukin-3 precursor P08700 IL3_HUMAN true false Enzyme Homo_sapiens IL3 152 17233.0 8.78 This CSF induces granulocytes, macrophages, mast cells, stem cells, erythroid cells, eosinophils and megakaryocytes ["1-19"] M14743 307059 IL3 Chromosome:5 5q31.1 IL3 HGNC:6011 true 2020-06-12T23:07:00Z 2020-07-28T02:27:18Z 1 0 0 1878 CDBP01877 Metalloproteinase O43923 O43923_HUMAN true false Enzyme Homo_sapiens mmp20 183 20354.0 6.01 ["None"] ["None"] AJ003147 2808657 mmp20 mmp20 HGNC:14246 true 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1879 CDBP01878 Extracellular sulfatase Sulf-1 Q8IWU6 SULF1_HUMAN true false Enzyme Homo_sapiens SULF1 871 101026.1 9.4 Involved in catalytic activity Exhibits arylsulfatase activity and highly specific endoglucosamine-6-sulfatase activity. It can remove sulfate from the C-6 position of glucosamine within specific subregions of intact heparin. Diminishes HSPG (heparan sulfate proteoglycans) sulfation, inhibits signaling by heparin-dependent growth factors, diminishes proliferation, and facilitates apoptosis in response to exogenous stimulation ["1-22"] ["None"] NM_001128204.1 189571638 SULF1 Chromosome:8 8q13.1 SULF1 HGNC:20391 true 2020-06-12T23:07:00Z 2020-07-28T02:27:18Z 0 1 0 1880 CDBP01879 Transcription factor Sp1 P08047 SP1_HUMAN false false Metal Binding Homo_sapiens SP1 785 80692.7 7.36 Involved in zinc ion binding Transcription factor that can activate or repress transcription in response to physiological and pathological stimuli. Binds with high affinity to GC-rich motifs and regulates the expression of a large number of genes involved in a variety of processes such as cell growth, apoptosis, differentiation and immune responses. Highly regulated by post-translational modifications (phosphorylations, sumoylation, proteolytic cleavage, glycosylation and acetylation). Binds also the PDGFR- alpha G-box promoter. May have a role in modulating the cellular response to DNA damage. Implicated in chromatin remodeling. Plays a role in the recruitment of SMARCA4/BRG1 on the c-FOS promoter. Plays an essential role in the regulation of FE65 gene expression ["None"] ["None"] NM_138473.2 38372901 SP1 Chromosome:1 12q13.1 SP1 HGNC:11205 true 2020-06-12T23:07:00Z 2020-07-28T02:31:58Z 0 1 0 1881 CDBP01880 Perforin-1 P14222 PERF_HUMAN false false Enzyme Homo_sapiens PRF1 555 61376.9 7.87 Involved in protein binding In the presence of calcium, binds to target cell membranes. Inserts into target cell membranes and forms pores, and so contributes to cytolysis and apoptosis of target cells ["1-21"] ["188-204", "212-231"] NM_001083116.1 133908621 PRF1 Chromosome:1 10q22 true 2020-06-12T23:07:00Z 2020-07-28T02:33:40Z 0 0 0 1882 CDBP01881 Bone morphogenetic protein 2 P12643 BMP2_HUMAN true false Enzyme Homo_sapiens BMP2 396 44701.5 9.23 Involved in growth factor activity Induces cartilage and bone formation ["1-23"] ["None"] 1REW M22489 179502 BMP2 Chromosome:2 20p12 BMP2 HGNC:1069 true 2020-06-12T23:07:00Z 2020-07-28T02:27:19Z 1 0 0 1883 CDBP01882 Mitochondrial ornithine transporter 1 Q9Y619 ORNT1_HUMAN true true Enzyme Homo_sapiens SLC25A15 301 32735.96 9.126 Involved in transporter activity Ornithine transport across inner mitochondrial membrane, from the cytoplasm to the matrix. AF112968 SLC25A15 13 13q14 SLC25A15 HGNC:10985 true hsa:10166 NP_055067.1:NM_014252.3 2020-06-12T23:07:00Z 2020-07-28T02:27:19Z 0 0 0 1884 CDBP01883 Feline leukemia virus subgroup C receptor-related protein 1 Q9Y5Y0 FLVC1_HUMAN false false Receptor Homo_sapiens FLVCR1 555 59862.3 5.78 Involved in transmembrane transport Exports cytoplasmic heme. May be required to protect developing erythroid cells from heme toxicity. Causes susceptibility to FeLV-C in vitro ["None"] ["108-128", "148-168", "175-195", "200-220", "241-261", "276-296", "332-352", "373-393", "402-422", "425-445", "460-480", "491-511"] AF118637 5565872 FLVCR1 Chromosome:1 1q32.3 FLVCR1 HGNC:24682 true 2020-06-12T23:07:00Z 2020-07-28T02:27:19Z 1 0 0 1885 CDBP01884 Keratocan O60938 KERA_HUMAN true false Enzyme Homo_sapiens KERA 352 40508.5 7.53 Involved in protein binding May be important in developing and maintaining corneal transparency and for the structure of the stromal matrix ["1-20"] ["None"] AF063301 3132827 KERA Chromosome:1 12q22 KERA HGNC:6309 true 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1886 CDBP01885 Eosinophil cationic protein precursor P12724 ECP_HUMAN true false Enzyme Homo_sapiens RNASE3 160 18386.0 10.33 Cytotoxin and helminthotoxin with low-efficiency ribonuclease activity. Possesses a wide variety of biological activities. Exhibits antibacterial activity ["1-27"] 1DYT X15161 31077 RNASE3 Chromosome:14 14q24-q31 RNASE3 HGNC:10046 true 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1887 CDBP01886 Solute carrier family 40 member 1 Q9NP59 S40A1_HUMAN false true Transporter Homo_sapiens SLC40A1 571 62541.6 6.5 Involved in iron ion transmembrane transporter activity May be involved in iron export from duodenal epithelial cell and also in transfer of iron between maternal and fetal circulation. Mediates iron efflux in the presence of a ferroxidase (hephaestin and/or ceruloplasmin) ["None"] ["12-34", "58-80", "93-115", "125-147", "299-321", "341-363", "370-392", "450-472", "492-514", "519-541"] NM_014585.5 7657100 SLC40A1 Chromosome:2 2q32 SLC40A1 HGNC:10909 true 2020-06-12T23:07:00Z 2020-07-28T02:32:08Z 0 0 0 1888 CDBP01887 Folate receptor alpha P15328 FOLR1_HUMAN true false Enzyme Homo_sapiens FOLR1 257 29818.9 8.02 Involved in folic acid binding Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate to the interior of cells ["1-24"] ["None"] J05013 FOLR1 Chromosome:1 11q13.3-q14.1 FOLR1 HGNC:3791 true 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1889 CDBP01888 Fibromodulin Q06828 FMOD_HUMAN true false Enzyme Homo_sapiens FMOD 376 43178.4 5.95 Involved in protein binding Affects the rate of fibrils formation. May have a primary role in collagen fibrillogenesis ["1-18"] ["None"] AK291632 158256696 FMOD Chromosome:1 1q32 FMOD HGNC:3774 true 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1890 CDBP01889 Carbohydrate sulfotransferase 6 Q9GZX3 CHST6_HUMAN true false Enzyme Homo_sapiens CHST6 395 44098.4 10.37 Involved in sulfotransferase activity Catalyzes the transfer of sulfate to position 6 of non- reducing N-acetylglucosamine (GlcNAc) residues of keratan. Mediates sulfation of keratan in cornea. Keratan sulfate plays a central role in maintaining corneal transparency. Acts on the non- reducing terminal GlcNAc of short and long carbohydrate substrates that have poly-N-acetyllactosamine structures ["None"] ["6-26"] AF219990 11023146 CHST6 Chromosome:1 16q22 CHST6 HGNC:6938 true 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1891 CDBP01890 Gamma-aminobutyric acid type B receptor subunit 1 Q9UBS5 GABR1_HUMAN false false Receptor Homo_sapiens GABBR1 961 108319.4 8.3 Involved in G-protein coupled receptor activity Isoform 1E function may be to regulate the availability of functional GABA-B-R1A/GABA-B-R2 heterodimers by competing for GABA-B-R2 dimerization. This could explain the observation that certain small molecule ligands exhibit differential affinity for central versus peripheral sites ["1-14"] ["592-612", "632-652", "668-688", "711-731", "769-789", "805-825", "834-854"] 1SS2 AJ225028 3892594 GABBR1 Chromosome:6 6p21.31 GABBR1 HGNC:4070 true 2020-06-12T23:07:00Z 2020-07-28T02:27:19Z 1 0 0 1892 CDBP01891 Neurogenic locus notch homolog protein 1 P46531 NOTC1_HUMAN false false Enzyme Homo_sapiens NOTCH1 2555 272502.3 4.75 Involved in calcium ion binding Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBP-J kappa and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs. May be important for normal lymphocyte function. In altered form, may contribute to transformation or progression in some T-cell neoplasms. Involved in the maturation of both CD4+ and CD8+ cells in the thymus. May be important for follicular differentiation and possibly cell fate selection within the follicle. During cerebellar development, may function as a receptor for neuronal DNER and may be involved in the differentiation of Bergmann glia ["1-18"] ["1736-1756"] NM_017617.3 148833508 NOTCH1 Chromosome:9 9q34.3 NOTCH1 HGNC:7881 true 2020-06-12T23:07:00Z 2020-07-28T02:33:40Z 1 1 1 1893 CDBP01892 Calcium-binding mitochondrial carrier protein Aralar2 Q9UJS0 CMC2_HUMAN false true Enzyme Homo_sapiens SLC25A13 675 74303.085 8.616 Involved in transporter activity Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle. AF118838 5052319 SLC25A13 7 7q21.3 SLC25A13 HGNC:10983 true hsa:10165 NP_001153682.1:NM_001160210.1;NP_055066.1:NM_014251.2 High levels in liver and low levels in kidney, pancreas, placenta, heart and brain. 2020-06-12T23:07:00Z 2020-07-28T02:33:40Z 0 1 0 1894 CDBP01893 P3 protein P09131 P3_HUMAN false true Transporter Homo_sapiens SLC10A3 477 50332.2 7.86 Involved in bile acid:sodium symporter activity The ubiquitous expression and the conservation of the sequence in distant animal species suggest that the gene codes for a protein with housekeeping functions ["None"] ["225-245", "253-273", "281-301", "320-340", "361-381", "383-403", "417-437", "450-470"] BX664739 150171072 SLC10A3 SLC10A3 HGNC:22979 true 2020-06-12T23:07:00Z 2020-07-28T02:32:08Z 0 0 0 1895 CDBP01894 Transferrin receptor protein 2 Q9UP52 TFR2_HUMAN false false Receptor Homo_sapiens TFR2 801 88754.4 6.03 Involved in peptidase activity Mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner. May be involved in iron metabolism, hepatocyte function and erythrocyte differentiation ["None"] ["84-104"] NM_003227.3 33589848 TFR2 Chromosome:7 7q22 true 2020-06-12T23:07:00Z 2020-07-28T02:27:19Z 1 0 0 1896 CDBP01895 Choline transporter-like protein 1 Q8WWI5 CTL1_HUMAN false true Transporter Homo_sapiens SLC44A1 657 73301.28 8.602 Involved in choline transmembrane transporter activity Choline transporter. May be involved in membrane synthesis and myelin production. NM_080546.3 18034692 SLC44A1 9 9q31.2 SLC44A1 HGNC:18798 true hsa:23446 NP_536856.2:NM_080546.3 Expressed in various cells of the hematopoietic system. 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1897 CDBP01896 Orexin O43612 OREX_HUMAN true false Enzyme Homo_sapiens HCRT 131 13362.5 11.35 Involved in neuropeptide signaling pathway Neuropeptides that play a significant role in the regulation of food intake and sleep-wakefulness, possibly by coordinating the complex behavioral and physiologic responses of these complementary homeostatic functions. A broader role in the homeostatic regulation of energy metabolism, autonomic function, hormonal balance and the regulation of body fluids, is also suggested. Orexin-A binds to both OX1R and OX2R with a high affinity, whereas orexin-B binds only to OX2R with a similar high affinity ["1-33"] ["None"] 1R02 AF041240 HCRT Chromosome:1 17q21 HCRT HGNC:4847 true 2020-06-12T23:07:00Z 2020-07-28T02:27:19Z 1 0 0 1898 CDBP01897 RalA-binding protein 1 Q15311 RBP1_HUMAN false false Enzyme Homo_sapiens RALBP1 655 76062.9 5.68 Involved in signal transduction Can activate specifically hydrolysis of GTP bound to RAC1 and CDC42, but not RALA. Mediates ATP-dependent transport of S-(2,4-dinitrophenyl)-glutathione (DNP-SG) and doxorubicin (DOX) and is the major ATP-dependent transporter of glutathione conjugates of electrophiles (GS-E) and DOX in erythrocytes. Can catalyze transport of glutathione conjugates and xenobiotics, and may contribute to the multidrug resistance phenomenon. Serves as a scaffold protein that brings together proteins forming an endocytotic complex during interphase and also with CDK1 to switch off endocytosis, One of its substrates would be EPN1/Epsin ["None"] ["None"] BC013126 15341887 RALBP1 Chromosome:1 18p11.3 RALBP1 HGNC:9841 true 2020-06-12T23:07:00Z 2020-07-28T02:33:40Z 0 0 0 1899 CDBP01898 Tumor necrosis factor-inducible gene 6 protein P98066 TSG6_HUMAN true false Enzyme Homo_sapiens TNFAIP6 277 31203.1 6.78 Involved in binding Possibly involved in cell-cell and cell-matrix interactions during inflammation and tumorigenesis ["1-17"] ["None"] 1O7C AC009311 62822519 TNFAIP6 Chromosome:2 2q23.3 TNFAIP6 HGNC:11898 true 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1900 CDBP01899 Major prion protein P04156 PRIO_HUMAN true false Enzyme Homo_sapiens PRNP 253 27661.2 9.23 Involved in protein homooligomerization The function of PrP is still under debate. May play a role in neuronal development and synaptic plasticity. May be required for neuronal myelin sheath maintenance. May play a role in iron uptake and iron homeostasis. Isoform 2 may act as a growth suppressor by arresting the cell cycle at the G0/G1 phase. Soluble oligomers are toxic to cultured neuroblastoma cells and induce apoptosis (in vitro) ["1-22"] ["None"] 1QLZ M13899 190468 PRNP Chromosome:2 20p13 PRNP HGNC:9449 true 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1901 CDBP01900 Peroxisome proliferator-activated receptor delta Q03181 PPARD_HUMAN true false Enzyme Homo_sapiens PPARD 441 49903.0 7.65 Involved in DNA binding Ligand-activated transcription factor. Receptor that binds peroxisome proliferators such as hypolipidemic drugs and fatty acids. Has a preference for poly-unsaturated fatty acids, such as gamma-linoleic acid and eicosapentanoic acid. Once activated by a ligand, the receptor binds to promoter elements of target genes. Regulates the peroxisomal beta-oxidation pathway of fatty acids. Functions as transcription activator for the acyl-CoA oxidase gene. Decreases expression of NPC1L1 once activated by a ligand ["None"] ["None"] 1Y0S L07592 PPARD Chromosome:6 6p21.2 PPARD HGNC:9235 true 2020-06-12T23:07:00Z 2020-07-28T02:27:19Z 1 1 1 1902 CDBP01901 Chitobiosyldiphosphodolichol beta-mannosyltransferase Q9BT22 ALG1_HUMAN true false Enzyme Homo_sapiens ALG1 464 52517.685 7.228 Involved in biosynthetic process Participates in the formation of the lipid-linked precursor oligosaccharide for N-glycosylation. Involved in assembling the dolichol-pyrophosphate-GlcNAc(2)-Man(5) intermediate on the cytoplasmic surface of the ER. AB019038 6970470 ALG1 16 16p13.3 ALG1 HGNC:18294 true hsa:56052 NP_061982.3:NM_019109.4 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1903 CDBP01902 Equilibrative nucleoside transporter 1 Q99808 S29A1_HUMAN false true Transporter Homo_sapiens SLC29A1 456 50218.8 8.39 Involved in nucleoside transmembrane transporter activity Mediates both influx and efflux of nucleosides across the membrane (equilibrative transporter). It is sensitive (ES) to low concentrations of the inhibitor nitrobenzylmercaptopurine riboside (NBMPR) and is sodium-independent. It has a higher affinity for adenosine. Inhibited by dipyridamole and dilazep (anticancer chemotherapeutics drugs) ["None"] ["13-29", "83-107", "112-130", "139-157", "175-199", "207-227", "292-311", "324-342", "360-378", "394-413", "432-452"] U81375 SLC29A1 Chromosome:6 6p21.1 SLC29A1 HGNC:11003 true 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1904 CDBP01903 Cytochrome c oxidase subunit 7A1, mitochondrial P24310 CX7A1_HUMAN true false Enzyme Homo_sapiens COX7A1 79 9117.4 10.52 Involved in cytochrome-c oxidase activity This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport ["None"] ["47-75"] M83186 COX7A1 Chromosome:1 19q13.1 COX7A1 HGNC:2287 true 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1905 CDBP01904 Transient receptor potential cation channel subfamily V member 6 Q9H1D0 TRPV6_HUMAN false true Receptor Homo_sapiens TRPV6 725 83209.2 7.66 Involved in ion channel activity Calcium selective cation channel probably involved in Ca(2+) uptake in various tissues, including Ca(2+) reabsorption in intestine. The channel is activated by low internal calcium level, probably including intracellular calcium store depletion, and the current exhibits an inward rectification. Inactivation includes both, a rapid Ca(2+)-dependent and a slower Ca(2+)-calmodulin- dependent mechanism, the latter may be regulated by phosphorylation. In vitro, is slowly inhibited by Mg(2+) in a voltage-independent manner. Heteromeric assembly with TRPV5 seems to modify channel properties. TRPV5-TRPV6 heteromultimeric concatemers exhibit voltage-dependent gating ["None"] ["329-349", "388-408", "420-440", "449-469", "493-513", "557-577"] AF304463 11935057 TRPV6 Chromosome:7 7q34 TRPV6 HGNC:14006 true 2020-06-12T23:07:00Z 2020-07-28T02:27:20Z 1 0 0 1906 CDBP01905 Cysteinyl leukotriene receptor 2 Q9NS75 CLTR2_HUMAN false false Receptor Homo_sapiens CYSLTR2 346 39634.8 9.94 Involved in G-protein coupled receptor protein signaling pathway Receptor for cysteinyl leukotrienes. The response is mediated via a G-protein that activates a phosphatidylinositol- calcium second messenger system. Stimulation by BAY u9773, a partial agonist, induces specific contractions of pulmonary veins and might also have an indirect role in the relaxation of the pulmonary vascular endothelium. The rank order of affinities for the leukotrienes is LTC4 = LTD4 >> LTE4 ["None"] ["43-63", "73-93", "124-144", "154-174", "205-225", "246-266", "287-307"] AB038269 CYSLTR2 Chromosome:1 13q14.2 CYSLTR2 HGNC:18274 true 2020-06-12T23:07:00Z 2020-07-28T02:27:20Z 1 0 0 1907 CDBP01906 Aprataxin Q7Z2E3 APTX_HUMAN false false Metal Binding Homo_sapiens APTX 356 40739.8 9.68 Involved in catalytic activity DNA-binding protein involved in single-strand DNA break repair, double-strand DNA break repair and base excision repair. Resolves abortive DNA ligation intermediates formed either at base excision sites, or when DNA ligases attempt to repair non- ligatable breaks induced by reactive oxygen species. Catalyzes the release of adenylate groups covalently linked to 5'-phosphate termini, resulting in the production of 5'-phosphate termini that can be efficiently rejoined. Also able to hydrolyze adenosine 5'- monophosphoramidate (AMP-NH(2)) and diadenosine tetraphosphate (AppppA), but with lower catalytic activity ["None"] ["None"] NM_001195248.1 305410829 APTX Chromosome:9 9p13.3 APTX HGNC:15984 true 2020-06-12T23:07:00Z 2020-07-28T02:31:58Z 0 1 0 1908 CDBP01907 Myoglobin P02144 MYG_HUMAN false false Metal Binding Homo_sapiens MB 154 17183.7 7.86 Involved in iron ion binding Serves as a reserve supply of oxygen and facilitates the movement of oxygen within muscles ["None"] ["None"] 2MM1 CR456516 47678563 MB Chromosome:2 22q13.1 MB HGNC:6915 true 2020-06-12T23:07:00Z 2020-07-28T02:31:58Z 0 1 0 1909 CDBP01908 Acyl-CoA-binding protein P07108 ACBP_HUMAN true false Enzyme Homo_sapiens DBI 87 10044.4 6.54 Involved in acyl-CoA binding Binds medium- and long-chain acyl-CoA esters with very high affinity and may function as an intracellular carrier of acyl-CoA esters. It is also able to displace diazepam from the benzodiazepine (BZD) recognition site located on the GABA type A receptor. It is therefore possible that this protein also acts as a neuropeptide to modulate the action of the GABA receptor ["None"] ["None"] 1NVL DQ150443 73746603 DBI Chromosome:2 2q12-q21 DBI HGNC:2690 true 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1910 CDBP01909 Interleukin-8 P10145 IL8_HUMAN true false Enzyme Homo_sapiens IL8 99 11098.0 9.09 Involved in cytokine activity IL-8 is a chemotactic factor that attracts neutrophils, basophils, and T-cells, but not monocytes. It is also involved in neutrophil activation. It is released from several cell types in response to an inflammatory stimulus. IL-8(6-77) has a 5-10-fold higher activity on neutrophil activation, IL-8(5-77) has increased activity on neutrophil activation and IL-8(7-77) has a higher affinity to receptors CXCR1 and CXCR2 as compared to IL-8(1-77), respectively ["1-20"] ["None"] 1ILQ M17017 IL8 Chromosome:4 4q13-q21 IL8 HGNC:6025 true 2020-06-12T23:07:00Z 2020-07-28T02:27:20Z 1 0 0 1911 CDBP01910 High affinity choline transporter 1 Q9GZV3 SC5A7_HUMAN false true Transporter Homo_sapiens SLC5A7 580 63202.985 5.16 Involved in transporter activity Imports choline from the extracellular space to the neuron with high affinity. Choline uptake is the rate-limiting step in acetylcholine synthesis. Sodium ion- and chloride ion-dependent. AF276871 10998442 SLC5A7 2 2q12 SLC5A7 HGNC:14025 true hsa:60482 NP_068587.1:NM_021815.2 Expressed in putamen, spinal cord and medulla. Specific for cholinergic neurons. Homo-oligomerizes at cell surface 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1912 CDBP01911 Haptoglobin P00738 HPT_HUMAN false false Enzyme Homo_sapiens HP 406 45205.1 6.56 Involved in hemoglobin binding Haptoglobin combines with free plasma hemoglobin, preventing loss of iron through the kidneys and protecting the kidneys from damage by hemoglobin, while making the hemoglobin accessible to degradative enzymes ["1-18"] ["None"] K00422 306882 HP Chromosome:1 16q22.1 HP HGNC:5141 true 2020-06-12T23:07:00Z 2020-07-28T02:33:41Z 0 0 0 1913 CDBP01912 Neuropeptide S receptor Q6W5P4 NPSR1_HUMAN true false Enzyme Homo_sapiens NPSR1 371 42686.3 8.44 Involved in G-protein coupled receptor protein signaling pathway May be active in signaling pathway in an autocrine or paracrine fashion in several tissues. Receptor for neuropeptide S, it may mediate its action, such as inhibitory effects, on cell growth. Involved in pathogenesis of asthma and other IgE-mediated diseases ["None"] ["53-73", "83-103", "124-144", "165-185", "213-233", "276-296", "313-333"] AY310326 NPSR1 Chromosome:7 7p14.3 NPSR1 HGNC:23631 true 2020-06-12T23:07:00Z 2020-07-28T02:27:20Z 1 0 0 1914 CDBP01913 5-hydroxytryptamine receptor 2B P41595 5HT2B_HUMAN false false Receptor Homo_sapiens HTR2B 481 54297.4 9.47 Involved in G-protein coupled receptor protein signaling pathway This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system ["None"] ["57-79", "92-113", "130-151", "172-192", "217-239", "325-345", "361-383"] X77307 475198 HTR2B Chromosome:2 2q36.3-q37.1 HTR2B HGNC:5294 true 2020-06-12T23:07:00Z 2020-07-28T02:27:20Z 1 0 0 1915 CDBP01914 Alpha-fetoprotein P02771 FETA_HUMAN false false Enzyme Homo_sapiens AFP 609 68676.9 5.43 Involved in transport Binds copper, nickel, and fatty acids as well as, and bilirubin less well than, serum albumin. Only a small percentage (less than 2%) of the human AFP shows estrogen-binding properties ["1-18"] ["None"] V01514 31351 AFP Chromosome:4 4q11-q13 AFP HGNC:317 true 2020-06-12T23:07:00Z 2020-07-28T02:33:41Z 0 0 0 1916 CDBP01915 Prostaglandin E2 receptor EP1 subtype P34995 PE2R1_HUMAN false false Receptor Homo_sapiens PTGER1 402 41800.7 12.22 Involved in G-protein coupled receptor protein signaling pathway Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(q) proteins which activate a phosphatidylinositol-calcium second messenger system. May play a role as an important modulator of renal function. Implicated the smooth muscle contractile response to PGE2 in various tissues ["None"] ["36-62", "73-96", "112-133", "156-177", "202-227", "295-321", "333-354"] AY275470 30526194 PTGER1 Chromosome:1 19p13.1 PTGER1 HGNC:9593 true 2020-06-12T23:07:00Z 2020-07-28T02:27:20Z 1 0 0 1917 CDBP01916 Alpha-synuclein P37840 SYUA_HUMAN false false Enzyme Homo_sapiens SNCA 140 14460.2 4.37 Involved in regulation of dopamine secretion May be involved in the regulation of dopamine release and transport. Soluble protein, normally localized primarily at the presynaptic region of axons, which can form filamentous aggregates that are the major non amyloid component of intracellular inclusions in several neurodegenerative diseases (synucleinopathies). Induces fibrillization of microtubule- associated protein tau. Reduces neuronal responsiveness to various apoptotic stimuli, leading to a decreased caspase-3 activation ["None"] ["None"] 1XQ8 L08850 SNCA Chromosome:4 4q21 SNCA HGNC:11138 true 2020-06-12T23:07:00Z 2020-07-28T02:33:41Z 0 0 0 1918 CDBP01917 G-protein coupled receptor 109B P49019 G109B_HUMAN true false Enzyme Homo_sapiens GPR109B 387 44495.0 9.01 Involved in G-protein coupled receptor protein signaling pathway Receptor for 3-OH-octanoid acid mediates a negative feedback regulation of adipocyte lipolysis to counteract prolipolytic influences under conditions of physiological or pathological increases in beta-oxidation rates. Acts as a low affinity receptor for nicotinic acid. This pharmacological effect requires nicotinic acid doses that are much higher than those provided by a normal diet ["None"] ["29-50", "64-85", "103-123", "143-163", "195-209", "237-256", "274-298"] AB065865 21928995 GPR109B Chromosome:1 12q24.31 GPR109B HGNC:16824 true 2020-06-12T23:07:00Z 2020-07-28T02:27:20Z 1 0 0 1919 CDBP01918 Large neutral amino acids transporter small subunit 2 Q9UHI5 LAT2_HUMAN false true Transporter Homo_sapiens SLC7A8 535 58381.1 5.75 Involved in transport Sodium-independent, high-affinity transport of small and large neutral amino acids such as alanine, serine, threonine, cysteine, phenylalanine, tyrosine, leucine, arginine and tryptophan, when associated with SLC3A2/4F2hc. Acts as an amino acid exchanger. Has higher affinity for L-phenylalanine than LAT1 but lower affinity for glutamine and serine. L-alanine is transported at physiological concentrations. Plays a role in basolateral (re)absorption of neutral amino acids. Involved in the uptake of methylmercury (MeHg) when administered as the L-cysteine or D,L-homocysteine complexes, and hence plays a role in metal ion homeostasis and toxicity. Involved in the cellular activity of small molecular weight nitrosothiols, via the stereoselective transport of L-nitrosocysteine (L-CNSO) across the transmembrane. Plays an essential role in the reabsorption of neutral amino acids from the epithelial cells to the bloodstream in the kidney ["None"] ["40-60", "72-92", "113-133", "155-175", "189-209", "231-251", "268-288", "310-330", "362-382", "388-408", "424-444", "447-467"] AB037669 12597192 SLC7A8 Chromosome:1 14q11.2 SLC7A8 HGNC:11066 true 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1920 CDBP01919 L-selectin P14151 LYAM1_HUMAN true false Enzyme Homo_sapiens SELL 372 42186.7 6.57 Involved in binding Cell surface adhesion protein. Mediates the adherence of lymphocytes to endothelial cells of high endothelial venules in peripheral lymph nodes. Promotes initial tethering and rolling of leukocytes in endothelia ["1-28"] ["333-355"] AK312673 189069217 SELL Chromosome:1 1q23-q25 SELL HGNC:10720 true 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1921 CDBP01920 Heparin-binding growth factor 1 P05230 FGF1_HUMAN true false Enzyme Homo_sapiens FGF1 155 17459.6 7.04 Involved in fibroblast growth factor receptor binding The heparin-binding growth factors are angiogenic agents in vivo and are potent mitogens for a variety of cell types in vitro. There are differences in the tissue distribution and concentration of these 2 growth factors ["None"] ["None"] 1RY7 NM_000800.3 4503697 FGF1 Chromosome:5 5q31 true 2020-06-12T23:07:00Z 2020-07-28T02:27:20Z 1 0 0 1922 CDBP01921 Solute carrier family 22 member 11 Q9NSA0 S22AB_HUMAN false true Transporter Homo_sapiens SLC22A11 550 59970.9 8.71 Involved in transporter activity Mediates saturable uptake of estrone sulfate, dehydroepiandrosterone sulfate and related compounds ["None"] ["11-31", "143-163", "175-195", "201-221", "232-252", "257-277", "347-367", "379-399", "403-423", "431-451", "464-484", "491-511"] AB026116 SLC22A11 Chromosome:1 11q13.1 SLC22A11 HGNC:18120 true 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1923 CDBP01922 Sodium- and chloride-dependent glycine transporter 1 P48067 SC6A9_HUMAN false true Transporter Homo_sapiens SLC6A9 706 70582.02 7.921 Involved in neurotransmitter:sodium symporter activity Terminates the action of glycine by its high affinity sodium-dependent reuptake into presynaptic terminals. May play a role in regulation of glycine levels in NMDA receptor-mediated neurotransmission. NM_201649.2 67782315 SLC6A9 1 1p33 SLC6A9 HGNC:11056 true hsa:6536 NP_001020016.1:NM_001024845.2;NP_008865.2:NM_006934.3;NP_964012.2:NM_201649.3 Isoform GlyT-1A and isoform GlyT-1B can be found in brain, kidney, pancreas, lung, placenta and liver but isoform GlyT-1C is only found in brain. 2020-06-12T23:07:00Z 2020-07-28T02:32:08Z 0 0 0 1924 CDBP01923 5-hydroxytryptamine receptor 1B P28222 5HT1B_HUMAN true false Enzyme Homo_sapiens HTR1B 390 43567.5 8.82 Involved in G-protein coupled receptor protein signaling pathway This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins that inhibit adenylate cyclase activity ["None"] ["50-73", "87-109", "120-145", "166-187", "206-229", "316-340", "348-373"] M81590 HTR1B Chromosome:6 6q13 HTR1B HGNC:5287 true 2020-06-12T23:07:00Z 2020-07-28T02:27:21Z 1 0 0 1925 CDBP01924 Relaxin receptor 1 Q9HBX9 RXFP1_HUMAN false false Receptor Homo_sapiens RXFP1 757 86973.8 8.11 Involved in G-protein coupled receptor protein signaling pathway Receptor for relaxins. The activity of this receptor is mediated by G proteins leading to stimulation of adenylate cyclase and an increase of cAMP. Binding of the ligand may also activate a tyrosine kinase pathway that inhibits the activity of a phosphodiesterase that degrades cAMP ["None"] ["410-430", "444-464", "487-507", "528-548", "578-598", "630-650", "652-672"] AF190500 10441730 RXFP1 Chromosome:4 4q32.1 RXFP1 HGNC:19718 true 2020-06-12T23:07:00Z 2020-07-28T02:27:21Z 1 0 0 1926 CDBP01925 Carbonic anhydrase 5A, mitochondrial P35218 CAH5A_HUMAN true false Enzyme Homo_sapiens CA5A 305 34750.21 7.602 Involved in carbonate dehydratase activity Reversible hydration of carbon dioxide. Low activity. BC137405 187952273 CA5A 16 16q24.3 CA5A HGNC:1377 true hsa:763 NP_001730.1:NM_001739.1 Zinc 2020-06-12T23:07:00Z 2020-07-28T02:27:21Z 0 1 0 1927 CDBP01926 Natural resistance-associated macrophage protein 2 P49281 NRAM2_HUMAN false true Transporter Homo_sapiens SLC11A2 568 62265.2 6.0 Involved in transporter activity Important in metal transport, in particular iron. Can also transport manganese, cobalt, cadmium, nickel, vanadium and lead. Involved in apical iron uptake into duodenal enterocytes. Involved in iron transport from acidified endosomes into the cytoplasm of erythroid precursor cells. May play an important role in hepatic iron accumulation and tissue iron distribution ["None"] ["70-90", "97-117", "155-175", "180-200", "209-229", "256-276", "302-322", "361-381", "409-429", "441-461", "483-503", "507-527"] NM_001174126.1 295293169 SLC11A2 Chromosome:1 12q13 SLC11A2 HGNC:10908 true 2020-06-12T23:07:00Z 2020-07-28T02:32:08Z 0 0 0 1928 CDBP01927 Neurocan core protein O14594 NCAN_HUMAN true false Enzyme Homo_sapiens NCAN 1321 143092.1 5.06 Involved in sugar binding May modulate neuronal adhesion and neurite growth during development by binding to neural cell adhesion molecules (NG-CAM and N-CAM). Chondroitin sulfate proteoglycan; binds to hyaluronic acid ["1-22"] ["None"] NM_004386.2 118600983 NCAN Chromosome:1 19p12 NCAN HGNC:2465 true 2020-06-12T23:07:00Z 2020-07-28T02:27:21Z 0 1 0 1929 CDBP01928 Tumor necrosis factor ligand superfamily member 11 O14788 TNF11_HUMAN true false Enzyme Homo_sapiens TNFSF11 317 35477.8 7.74 Involved in tumor necrosis factor receptor binding Cytokine that binds to TNFRSF11B/OPG and to TNFRSF11A/RANK. Osteoclast differentiation and activation factor. Augments the ability of dendritic cells to stimulate naive T-cell proliferation. May be an important regulator of interactions between T-cells and dendritic cells and may play a role in the regulation of the T-cell-dependent immune response. May also play an important role in enhanced bone-resorption in humoral hypercalcemia of malignancy ["None"] ["48-68"] AF019047 TNFSF11 Chromosome:1 13q14 TNFSF11 HGNC:11926 true 2020-06-12T23:07:00Z 2020-07-28T02:27:21Z 1 0 0 1930 CDBP01929 Cartilage oligomeric matrix protein P49747 COMP_HUMAN true false Enzyme Homo_sapiens COMP 757 82859.9 4.16 Involved in calcium ion binding May play a role in the structural integrity of cartilage via its interaction with other extracellular matrix proteins such as the collagens and fibronectin. Can mediate the interaction of chondrocytes with the cartilage extracellular matrix through interaction with cell surface integrin receptors. Could play a role in the pathogenesis of osteoarthritis. Potent suppressor of apoptosis in both primary chondrocytes and transformed cells. Suppresses apoptosis by blocking the activation of caspase-3 and by inducing the IAP family of survival proteins (BIRC3, BIRC2, BIRC5 and XIAP). Essential for maintaining a vascular smooth muscle cells (VSMCs) contractile/differentiated phenotype under physiological and pathological stimuli. Maintains this phenotype of VSMCs by interacting with ITGA7 ["1-20"] ["None"] L32137 602450 COMP Chromosome:1 19p13.1 COMP HGNC:2227 true 2020-06-12T23:07:00Z 2020-07-28T02:27:21Z 0 1 0 1931 CDBP01930 T-cell surface glycoprotein CD1e, membrane-associated P15812 CD1E_HUMAN true false Enzyme Homo_sapiens CD1E 388 43626.1 8.69 Involved in immune response T-cell surface glycoprotein CD1e, soluble is required for the presentation of glycolipid antigens on the cell surface. The membrane-associated form is not active ["1-19"] ["305-325"] AJ289111 8249469 CD1E Chromosome:1 1q22-q23 CD1E HGNC:1638 true 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1932 CDBP01931 Guanine nucleotide-binding protein G(t) subunit alpha-1 P11488 GNAT1_HUMAN true false Enzyme Homo_sapiens GNAT1 350 40040.4 5.32 Involved in signal transducer activity Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Transducin is an amplifier and one of the transducers of a visual impulse that performs the coupling between rhodopsin and cGMP-phosphodiesterase ["None"] ["None"] 1TND X15088 31865 GNAT1 Chromosome:3 3p21 GNAT1 HGNC:4393 true 2020-06-12T23:07:00Z 2020-07-28T02:27:21Z 1 0 0 1933 CDBP01932 Eukaryotic translation initiation factor 5A-1 P63241 IF5A1_HUMAN true false Enzyme Homo_sapiens EIF5A 154 16832.1 4.86 Involved in RNA binding mRNA-binding protein involved in translation elongation. Has an important function at the level of mRNA turnover, probably acting downstream of decapping. Involved in actin dynamics and cell cycle progression, mRNA decay and probably in a pathway involved in stress response and maintenance of cell wall integrity. With syntenin SDCBP, functions as a regulator of TP53/p53 and TP53/p53-dependent apoptosis. Regulates also TNF- alpha-mediated apoptosis. Mediates effects of polyamines on neuronal process extension and survival. May play an important role in brain development and function, and in skeletal muscle stem cell differentiation. Also described as a cellular cofactor of human T-cell leukemia virus type I (HTLV-1) Rex protein and of human immunodeficiency virus type 1 (HIV-1) Rev protein, essential for mRNA export of retroviral transcripts ["None"] ["None"] AK292615 158258667 EIF5A Chromosome:1 17p13-p12 EIF5A HGNC:3300 true 2020-06-12T23:07:00Z 2020-07-28T02:27:21Z 0 0 1 1934 CDBP01933 Inward rectifier potassium channel 2 P63252 IRK2_HUMAN false true Transporter Homo_sapiens KCNJ2 427 48287.8 5.47 Involved in inward rectifier potassium channel activity Probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium or cesium ["None"] ["82-106", "157-178"] 1U4F U24055 KCNJ2 Chromosome:1 17q24.3 KCNJ2 HGNC:6263 true 2020-06-12T23:07:00Z 2020-07-28T02:32:08Z 0 0 0 1935 CDBP01934 Heat shock 70 kDa protein 1A/1B P08107 HSP71_HUMAN true false Enzyme Homo_sapiens HSPA1A 641 70051.6 5.31 Involved in ATP binding In cooperation with other chaperones, Hsp70s stabilize preexistent proteins against aggregation and mediate the folding of newly translated polypeptides in the cytosol as well as within organelles. These chaperones participate in all these processes through their ability to recognize nonnative conformations of other proteins. They bind extended peptide segments with a net hydrophobic character exposed by polypeptides during translation and membrane translocation, or following stress-induced damage. In case of rotavirus A infection, serves as a post-attachment receptor for the virus to facilitate entry into the cell ["None"] ["None"] 1S3X BC002453 12803275 HSPA1A Chromosome:6 6p21.3 HSPA1A HGNC:5232 true 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1936 CDBP01935 cAMP-responsive element modulator Q03060 CREM_HUMAN false false Transcription Factor Homo_sapiens CREM 361 38939.6 6.63 Involved in sequence-specific DNA binding transcription factor activity Transcriptional regulator that binds the cAMP response element (CRE), a sequence present in many viral and cellular promoters. Isoforms are either transcriptional activators or repressors. Plays a role in spermatogenesis and is involved in spermatid maturation ["None"] ["None"] XM_001148291 114630088 CREM Chromosome:1 10p11.21 CREM HGNC:2352 true 2020-06-12T23:07:00Z 2020-07-28T02:32:06Z 0 0 1 1937 CDBP01936 Early endosome antigen 1 Q15075 EEA1_HUMAN false false Metal Binding Homo_sapiens EEA1 1411 162464.9 5.41 Involved in zinc ion binding Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate and participates in endosomal trafficking ["None"] ["None"] 1JOC L40157 1016368 EEA1 Chromosome:1 12q22 EEA1 HGNC:3185 true 2020-06-12T23:07:00Z 2020-07-28T02:31:58Z 0 1 0 1938 CDBP01937 Galectin-1 P09382 LEG1_HUMAN true false Enzyme Homo_sapiens LGALS1 135 14716.0 5.15 May regulate cell apoptosis and cell differentiation. Binds beta-galactoside. Binds CD45, CD3 and CD4. Inhibits CD45 protein phosphatase activity and therefore the dephosphorylation of Lyn kinase ["None"] ["None"] 1GZW X14829 34343 LGALS1 Chromosome:22 22q13.1 LGALS1 HGNC:6561 true 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1939 CDBP01938 2',3'-cyclic-nucleotide 3'-phosphodiesterase P09543 CN37_HUMAN true false Enzyme Homo_sapiens CNP 421 47578.22 9.068 Involved in 2',3'-cyclic-nucleotide 3'-phosphodiesterase activity May participate in RNA metabolism in the myelinating cell, CNP is the third most abundant protein in central nervous system myelin (By similarity). 1WOJ NM_033133.4 94721261 CNP 17 17q21 CNP HGNC:2158 true hsa:1267 NP_149124.3:NM_033133.4 Exists as monomers and homodimers 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1940 CDBP01939 D-2-hydroxyglutarate dehydrogenase, mitochondrial Q8N465 D2HDH_HUMAN true false Enzyme Homo_sapiens D2HGDH 521 56415.58 7.98 Involved in catalytic activity Catalyzes the oxidation of D-2-hydroxyglutarate to alpha-ketoglutarate. BC036604 34192567 D2HGDH 2 2q37.3 D2HGDH HGNC:28358 true hsa:728294 NP_689996.4:NM_152783.3 FAD 2020-06-12T23:07:00Z 2020-07-28T02:27:21Z 0 0 0 1941 CDBP01940 E3 ubiquitin-protein ligase Mdm2 Q00987 MDM2_HUMAN true false Enzyme Homo_sapiens MDM2 491 55232.4 4.32 Involved in negative regulation of apoptosis E3 ubiquitin-protein ligase that mediates ubiquitination of p53/TP53, leading to its degration by the proteasome. Inhibits p53/TP53- and p73/TP73-mediated cell cycle arrest and apoptosis by binding its transcriptional activation domain. Also acts as an ubiquitin ligase E3 toward itself and ARRB1. Permits the nuclear export of TP53/p53. Promotes proteasome-dependent ubiquitin- independent degradation of retinoblastoma RB1 protein. Inhibits DAXX-mediated apoptosis by inducing its ubiquitination and degradation ["None"] ["None"] 1T4F M92424 MDM2 Chromosome:1 12q14.3-q15 MDM2 HGNC:6973 true 2020-06-12T23:07:00Z 2020-07-28T02:27:21Z 0 1 0 1942 CDBP01941 Ubiquitin carboxyl-terminal hydrolase CYLD Q9NQC7 CYLD_HUMAN true false Enzyme Homo_sapiens CYLD 956 107314.6 5.27 Involved in proline-rich region binding Protease that specifically cleaves 'Lys-63'-linked polyubiquitin chains. Has endodeubiquitinase activity. Plays an important role in the regulation of pathways leading to NF-kappa-B activation. Contributes to the regulation of cell survival, proliferation and differentiation via its effects on NF-kappa-B activation. Negative regulator of Wnt signaling. Inhibits HDAC6 and thereby promotes acetylation of alpha-tubulin and stabilization of microtubules. Plays a role in the regulation of microtubule dynamics, and thereby contributes to the regulation of cell proliferation, cell polarization, cell migration, and angiogenesis. Required for normal cell cycle progress and normal cytokinesis. Inhibits nuclear translocation of NF-kappa-B. Plays a role in the regulation of inflammation and the innate immune response, via its effects on NF-kappa-B activation. Dispensable for the maturation of intrathymic natural killer cells, but required for the continued survival of immature natural killer cells. Negatively regulates TNFRSF11A signaling and osteoclastogenesis ["None"] ["None"] 1IXD NM_015247.2 14165258 CYLD Chromosome:1 16q12.1 true 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1943 CDBP01942 Syndecan-4 P31431 SDC4_HUMAN true false Enzyme Homo_sapiens SDC4 198 21641.3 4.13 Involved in cytoskeletal protein binding Cell surface proteoglycan that bears heparan sulfate ["1-18"] ["146-170"] 1EJQ AK222695 62896949 SDC4 Chromosome:2 20q12 SDC4 HGNC:10661 true 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1944 CDBP01943 Solute carrier family 13 member 3 Q8WWT9 S13A3_HUMAN false true Transporter Homo_sapiens SLC13A3 602 66840.4 8.47 Involved in transporter activity High-affinity sodium-dicarboxylate cotransporter that accepts a range of substrates with 4-5 carbon atoms. The stoichiometry is probably 3 Na(+) for 1 divalent succinate ["None"] ["17-37", "56-76", "83-103", "139-159", "230-250", "279-299", "337-357", "373-393", "462-482", "506-526", "547-567"] AF154121 8132324 SLC13A3 Chromosome:2 20q12-q13.1 SLC13A3 HGNC:14430 true 2020-06-12T23:07:00Z 2020-07-28T02:32:08Z 0 0 0 1945 CDBP01944 Pro-epidermal growth factor P01133 EGF_HUMAN false false Metal Binding Homo_sapiens EGF 1207 133993.1 5.68 Involved in calcium ion binding EGF stimulates the growth of various epidermal and epithelial tissues in vivo and in vitro and of some fibroblasts in cell culture. Magnesiotropic hormone that stimulates magnesium reabsorption in the renal distal convoluted tubule via engagement of EGFR and activation of the magnesium channel TRPM6 ["1-22"] ["1033-1053"] X04571 31121 EGF Chromosome:4 4q25 EGF HGNC:3229 true 2020-06-12T23:07:00Z 2020-07-28T02:31:58Z 0 1 0 1946 CDBP01945 Solute carrier family 22 member 4 Q9H015 S22A4_HUMAN false true Transporter Homo_sapiens SLC22A4 551 62154.5 7.27 Involved in ion transmembrane transporter activity Sodium-ion dependent, low affinity carnitine transporter. Probably transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Relative uptake activity ratio of carnitine to TEA is 1.78. A key substrate of this transporter seems to be ergothioneine (ET) ["None"] ["21-41", "142-162", "172-192", "198-218", "233-253", "258-278", "338-358", "372-392", "400-420", "427-447", "461-481", "487-507"] AB007448 2605501 SLC22A4 Chromosome:5 5q31.1 SLC22A4 HGNC:10968 true 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1947 CDBP01946 Apoptosis regulator Bcl-2 P10415 BCL2_HUMAN true false Enzyme Homo_sapiens BCL2 239 26265.7 7.32 Involved in regulation of apoptosis Suppresses apoptosis in a variety of cell systems including factor-dependent lymphohematopoietic and neural cells. Regulates cell death by controlling the mitochondrial membrane permeability. Appears to function in a feedback loop system with caspases. Inhibits caspase activity either by preventing the release of cytochrome c from the mitochondria and/or by binding to the apoptosis-activating factor (APAF-1) ["None"] ["212-233"] AY220759 28144173 BCL2 Chromosome:1 18q21.33|18q21.3 BCL2 HGNC:990 true 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1948 CDBP01947 Delta-type opioid receptor P41143 OPRD_HUMAN false false Receptor Homo_sapiens OPRD1 372 40412.3 9.17 Involved in G-protein coupled receptor protein signaling pathway Inhibits neurotransmitter release by reducing calcium ion currents and increasing potassium ion conductance. Highly stereoselective. receptor for enkephalins ["None"] ["46-75", "85-102", "125-144", "175-190", "216-238", "262-284", "294-310"] U07882 OPRD1 Chromosome:1 1p36.1-p34.3 OPRD1 HGNC:8153 true 2020-06-12T23:07:00Z 2020-07-28T02:27:22Z 1 0 0 1949 CDBP01948 P2Y purinoceptor 2 P41231 P2RY2_HUMAN false false Receptor Homo_sapiens P2RY2 377 42289.0 9.88 Involved in G-protein coupled receptor protein signaling pathway Receptor for ATP and UTP coupled to G-proteins that activate a phosphatidylinositol-calcium second messenger system. The affinity range is UTP = ATP > ATP-gamma-S >> 2-methylthio-ATP = ADP ["None"] ["33-59", "71-93", "111-129", "153-172", "195-220", "247-269", "288-309"] AK313942 189054140 P2RY2 Chromosome:1 11q13.5-q14.1 P2RY2 HGNC:8541 true 2020-06-12T23:07:00Z 2020-07-28T02:32:17Z 1 0 0 1950 CDBP01949 Interleukin-5 precursor P05113 IL5_HUMAN true false Enzyme Homo_sapiens IL5 134 15238.0 8.23 Factor that induces terminal differentiation of late- developing B-cells to immunoglobulin secreting cells ["1-19"] 1HUL X04688 33836 IL5 Chromosome:5 5q31.1 IL5 HGNC:6016 true 2020-06-12T23:07:00Z 2020-07-28T02:27:22Z 1 0 0 1951 CDBP01950 Interstitial collagenase P03956 MMP1_HUMAN true false Enzyme Homo_sapiens MMP1 469 54006.6 6.97 Involved in metalloendopeptidase activity Cleaves collagens of types I, II, and III at one site in the helical domain. Also cleaves collagens of types VII and X. In case of HIV infection, interacts and cleaves the secreted viral Tat protein, leading to a decrease in neuronal Tat's mediated neurotoxicity ["1-19"] ["None"] 1SU3 X54925 30126 MMP1 Chromosome:1 11q22.3 MMP1 HGNC:7155 true 2020-06-12T23:07:00Z 2020-07-28T02:27:22Z 0 1 0 1952 CDBP01951 Ileal sodium/bile acid cotransporter Q12908 NTCP2_HUMAN false true Transporter Homo_sapiens SLC10A2 348 37697.4 7.13 Involved in bile acid:sodium symporter activity Plays a critical role in the sodium-dependent reabsorption of bile acids from the lumen of the small intestine. Plays a key role in cholesterol metabolism ["None"] ["29-49", "83-103", "127-147", "158-178", "196-216", "225-245", "285-305"] U10417 SLC10A2 Chromosome:1 13q33 SLC10A2 HGNC:10906 true 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1953 CDBP01952 5-hydroxytryptamine receptor 1F P30939 5HT1F_HUMAN true false Enzyme Homo_sapiens HTR1F 366 41708.5 9.08 Involved in G-protein coupled receptor protein signaling pathway This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins that inhibit adenylate cyclase activity ["None"] ["30-50", "65-85", "98-118", "141-161", "179-199", "291-311", "330-350"] AF498981 20379136 HTR1F Chromosome:3 3p12 HTR1F HGNC:5292 true 2020-06-12T23:07:00Z 2020-07-28T02:27:22Z 1 0 0 1954 CDBP01953 Leucyl-cystinyl aminopeptidase Q9UIQ6 LCAP_HUMAN true false Enzyme Homo_sapiens LNPEP 1025 117348.1 5.5 Involved in proteolysis Release of an N-terminal amino acid, cleaves before cysteine, leucine as well as other amino acids. Degrades peptide hormones such as oxytocin, vasopressin and angiotensin III, and plays a role in maintaining homeostasis during pregnancy. May be involved in the inactivation of neuronal peptides in the brain. Cleaves Met-enkephalin and dynorphin. Binds angiotensin IV and may be the angiotensin IV receptor in the brain ["None"] ["111-131"] NM_005575.2 61742777 LNPEP Chromosome:5 5q15 LNPEP HGNC:6656 true 2020-06-12T23:07:00Z 2020-07-28T02:27:22Z 0 1 0 1955 CDBP01954 Carbonic anhydrase-related protein 10 Q9NS85 CAH10_HUMAN true false Enzyme Homo_sapiens CA10 328 37562.7 8.22 Inorganic ion transport and metabolism Does not have a catalytic activity ["None"] ["None"] AB036836 CA10 Chromosome:1 17q21.33 CA10 HGNC:1369 true 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1956 CDBP01955 Folate transporter 1 P41440 S19A1_HUMAN true true Enzyme Homo_sapiens SLC19A1 591 54261.68 9.514 Involved in folic acid binding Transporter for the intake of folate. Uptake of folate in human placental choriocarcinoma cells occurs by a novel mechanism called potocytosis which functionally couples three components, namely the folate receptor, the folate transporter, and a V-type H(+)-pump. AF004354 2209135 SLC19A1 21 21q22.3 SLC19A1 HGNC:10937 true hsa:6573 NP_001192135.1:NM_001205206.1;NP_001192136.1:NM_001205207.1;NP_919231.1:NM_194255.2 Placenta, liver, and to a much smaller extent, in lung. 2020-06-12T23:07:00Z 2020-07-28T02:27:22Z 0 0 0 1957 CDBP01956 Solute carrier family 12 member 5 Q9H2X9 S12A5_HUMAN false true Transporter Homo_sapiens SLC12A5 1139 126182.5 6.71 Involved in transport Mediates electroneutral potassium-chloride cotransport in mature neurons. Transport occurs under isotonic conditions, but is activated 20-fold by cell swelling. Important for Cl(-) homeostasis in neurons ["None"] ["134-154", "156-176", "195-215", "217-237", "255-275", "278-298", "419-439", "459-479", "497-517", "570-590", "631-651", "848-868"] NM_001134771.1 198041678 SLC12A5 Chromosome:2 20q13.12 SLC12A5 HGNC:13818 true 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1958 CDBP01957 Synaptic vesicular amine transporter Q05940 VMAT2_HUMAN true false Enzyme Homo_sapiens SLC18A2 514 55712.1 5.91 Involved in transmembrane transport Involved in the ATP-dependent vesicular transport of biogenic amine neurotransmitters. Pumps cytosolic monoamines including dopamine, norepinephrine, serotonin, and histamine into synaptic vesicles. Requisite for vesicular amine storage prior to secretion via exocytosis ["None"] ["21-41", "130-150", "160-180", "190-210", "220-242", "249-271", "292-311", "329-352", "358-378", "390-410", "415-435", "441-462"] AK314997 189054643 SLC18A2 Chromosome:1 10q25 SLC18A2 HGNC:10935 true 2020-06-12T23:07:00Z 2020-06-12T23:07:00Z 0 0 0 1959 CDBP01958 L-2-hydroxyglutarate dehydrogenase, mitochondrial Q9H9P8 L2HDH_HUMAN true false Enzyme Homo_sapiens L2HGDH 463 50315.58 8.145 Involved in 2-hydroxyglutarate dehydrogenase activity AK022680 10434215 L2HGDH 14 14q21.3 HGNC:20499 true hsa:79944 NP_079160.1:NM_024884.2 Widely expressed. Highly expressed in brain, testis and muscle. Expressed to a lower extent in lymphocytes, fibroblasts, keratinocytes, placenta, bladder, small intestine, liver and bone marrow. FAD 2020-06-12T23:07:00Z 2020-07-28T02:27:22Z 0 0 0 1960 CDBP01959 Nuclear receptor subfamily 1 group I member 3 Q14994 NR1I3_HUMAN true false Enzyme Homo_sapiens NR1I3 352 39942.1 8.26 Involved in sequence-specific DNA binding transcription factor activity Binds and transactivates the retinoic acid response elements that control expression of the retinoic acid receptor beta 2 and alcohol dehydrogenase 3 genes. Transactivates both the phenobarbital responsive element module of the human CYP2B6 gene and the CYP3A4 xenobiotic response element ["None"] ["None"] 1XVP AL590714 55665946 NR1I3 Chromosome:1 1q23.3 NR1I3 HGNC:7969 true 2020-06-12T23:07:00Z 2020-07-28T02:27:22Z 1 1 1 1961 CDBP01960 BCL2/adenovirus E1B 19 kDa protein-interacting protein 3 Q12983 BNIP3_HUMAN false false Enzyme Homo_sapiens BNIP3 194 21540.8 6.8 Involved in positive regulation of apoptosis Apoptosis-inducing protein that, which can overcome BCL2 suppression. May play a role in repartitioning calcium between the two major intracellular calcium stores in association with BCL2 ["None"] ["164-184"] AF002697 2511529 BNIP3 Chromosome:1 10q26.3 BNIP3 HGNC:1084 true 2020-06-12T23:07:00Z 2020-07-28T02:33:41Z 0 0 0 1962 CDBP01961 Tyrosine-protein phosphatase non-receptor type 6 P29350 PTN6_HUMAN true false Enzyme Homo_sapiens PTPN6 595 67560.79 7.784 Involved in phosphatase activity Modulates signaling by tyrosine phosphorylated cell surface receptors such as KIT and the EGF receptor/EGFR. The SH2 regions may interact with other cellular components to modulate its own phosphatase activity against interacting substrates. Together with MTUS1, induces UBE2V2 expression upon angiotensin II stimulation. Plays a key role in hematopoiesis. 1FPR;1GWZ;1X6C;2B3O;2RMX;2YU7;3PS5;4GRY;4GRZ;4GS0 M74903 PTPN6 12 12p13 PTPN6 HGNC:9658 true hsa:5777 NP_002822.2:NM_002831.5;NP_536858.1:NM_080548.4;NP_536859.1:NM_080549.3 Isoform 1 is expressed in hematopoietic cells. Isoform 2 is expressed in non-hematopoietic cells. Monomer. Interacts with MTUS1 . Interacts with MILR1 (tyrosine-phosphorylated). Interacts with KIT (By similarity). Binds PTPNS1, LILRB1 and LILRB2. Interacts with FCRL2, FCRL3, FCRL4, CD300LF, CDK2 and CD84. Interacts with KIR2DL1; the interaction is enhanced by ARRB2. Interacts (via SH2 1 domain) with ROS1; the interaction is direct and promotes ROS1 dephosphorylation. Interacts with EGFR; inhibits EGFR-dependent activation of MAPK/ERK. Interacts with LYN. Interacts with the tyrosine phosphorylated form of PDPK1 2020-06-12T23:07:00Z 2020-07-28T02:27:23Z 1 0 0 1963 CDBP01962 Peroxiredoxin-5, mitochondrial P30044 PRDX5_HUMAN true false Enzyme Homo_sapiens PRDX5 214 22026.205 8.575 Involved in oxidoreductase activity Reduces hydrogen peroxide and alkyl hydroperoxides with reducing equivalents provided through the thioredoxin system. Involved in intracellular redox signaling. 1H4O;1HD2;1OC3;1URM;2VL2;2VL3;2VL9;3MNG AF110731 6103724 PRDX5 11 11q13 PRDX5 HGNC:9355 true hsa:25824 NP_036226.1:NM_012094.4;NP_857634.1:NM_181651.2;NP_857635.1:NM_181652.2 Widely expressed. Monomer 2020-06-12T23:07:00Z 2020-07-28T02:27:23Z 0 0 1 1964 CDBP01963 Target of rapamycin complex 2 subunit MAPKAP1 Q9BPZ7 SIN1_HUMAN false false Enzyme Homo_sapiens MAPKAP1 522 59122.3 7.61 Involved in Ras GTPase binding Subunit of mTORC2, which regulates cell growth and survival in response to hormonal signals. mTORC2 is activated by growth factors, but, in contrast to mTORC1, seems to be nutrient- insensitive. mTORC2 seems to function upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors. mTORC2 promotes the serum-induced formation of stress-fibers or F-actin. mTORC2 plays a critical role in AKT1 'Ser-473' phosphorylation, which may facilitate the phosphorylation of the activation loop of AKT1 on 'Thr-308' by PDK1 which is a prerequisite for full activation. mTORC2 regulates the phosphorylation of SGK1 at 'Ser-422'. mTORC2 also modulates the phosphorylation of PRKCA on 'Ser-657'. Within mTORC2, MAPKAP1 is required for complex formation and mTORC2 kinase activity. MAPKAP1 inhibits MAP3K2 by preventing its dimerization and autophosphorylation. Inhibits HRAS and KRAS signaling. Enhances osmotic stress-induced phosphorylation of ATF2 and ATF2-mediated transcription ["None"] ["None"] AY524429 MAPKAP1 Chromosome:9 9q33.3 MAPKAP1 HGNC:18752 true 2020-06-12T23:07:00Z 2020-07-28T02:33:41Z 0 0 0 1965 CDBP01964 Putative G-protein coupled receptor 44 Q9Y5Y4 GPR44_HUMAN true false Enzyme Homo_sapiens GPR44 395 43267.2 10.95 Involved in G-protein coupled receptor protein signaling pathway Orphan receptor ["None"] ["34-56", "68-89", "107-127", "147-168", "211-231", "248-269", "289-308"] AB008535 4204216 GPR44 Chromosome:1 11q12-q13.3 GPR44 HGNC:4502 true 2020-06-12T23:07:00Z 2020-07-28T02:27:23Z 1 0 0 1966 CDBP01965 Bile acid receptor Q96RI1 NR1H4_HUMAN true false Enzyme Homo_sapiens NR1H4 486 55913.9 6.81 Involved in sequence-specific DNA binding transcription factor activity Ligand-activated transcription factor. Receptor for bile acids such as chenodeoxycholic acid, lithocholic acid and deoxycholic acid. Represses the transcription of the cholesterol 7-alpha-hydroxylase gene (CYP7A1) through the induction of NR0B2 or FGF19 expression, via two distinct mechanisms. Activates the intestinal bile acid-binding protein (IBABP). Activates the transcription of bile salt export pump ABCB11 by directly recruiting histone methyltransferase CARM1 to this locus ["None"] ["None"] 1OSH AF478446 21434818 NR1H4 Chromosome:1 12q23.1 NR1H4 HGNC:7967 true 2020-06-12T23:07:00Z 2020-07-28T02:27:23Z 1 1 1 1967 CDBP01966 Voltage-dependent anion-selective channel protein 1 P21796 VDAC1_HUMAN true true Enzyme Homo_sapiens VDAC1 283 30772.4 8.89 Involved in voltage-gated anion channel activity Forms a channel through the mitochondrial outer membrane and also the plasma membrane. The channel at the outer mitochondrial membrane allows diffusion of small hydrophilic molecules; in the plasma membrane it is involved in cell volume regulation and apoptosis. It adopts an open conformation at low or zero membrane potential and a closed conformation at potentials above 30-40 mV. The open state has a weak anion selectivity whereas the closed state is cation-selective. May participate in the formation of the permeability transition pore complex (PTPC) responsible for the release of mitochondrial products that triggers apoptosis ["None"] ["26-35", "39-47", "54-64", "69-76", "80-89", "95-104", "111-120", "123-130", "137-145", "150-158", "163-175", "178-185", "189-198", "202-211", "218-227", "231-238", "242-251", "254-263", "273-282"] L06132 VDAC1 Chromosome:5 5q31 VDAC1 HGNC:12669 true 2020-06-12T23:07:00Z 2020-07-28T02:27:23Z 0 0 0 1968 CDBP01967 Hepcidin P81172 HEPC_HUMAN false false Enzyme Homo_sapiens HAMP 84 9408.1 8.88 Involved in cellular iron ion homeostasis Has strong antimicrobial activity against E.coli ML35P N.cinerea and weaker against S.epidermidis, S.aureus and group b streptococcus bacteria. Active against the fungus C.albicans. No activity against P.aeruginosa ["1-24"] ["None"] 1M4F NM_021175.2 10863973 HAMP Chromosome:1 19q13.1 HAMP HGNC:15598 true 2020-06-12T23:07:00Z 2020-07-28T02:33:41Z 0 0 0 1969 CDBP01968 Platelet-activating factor receptor P25105 PTAFR_HUMAN false false Receptor Homo_sapiens PTAFR 342 39203.1 9.14 Involved in G-protein coupled receptor protein signaling pathway Receptor for platelet activating factor, a chemotactic phospholipid mediator that possesses potent inflammatory, smooth- muscle contractile and hypotensive activity. Seems to mediate its action via a G protein that activates a phosphatidylinositol- calcium second messenger system ["None"] ["17-38", "55-74", "92-113", "134-155", "185-205", "234-254", "277-296"] AK290240 158261503 PTAFR Chromosome:1 1p35-p34.3 PTAFR HGNC:9582 true 2020-06-12T23:07:00Z 2020-07-28T02:27:23Z 1 0 0 1970 CDBP01969 Adiponectin Q15848 ADIPO_HUMAN false false Enzyme Homo_sapiens ADIPOQ 244 26413.6 5.53 Involved in cytokine activity Important adipokine involved in the control of fat metabolism and insulin sensitivity, with direct anti-diabetic, anti-atherogenic and anti-inflammatory activities. Stimulates AMPK phosphorylation and activation in the liver and the skeletal muscle, enhancing glucose utilization and fatty-acid combustion. Antagonizes TNF-alpha by negatively regulating its expression in various tissues such as liver and macrophages, and also by counteracting its effects. Inhibits endothelial NF-kappa-B signaling through a cAMP-dependent pathway. May play a role in cell growth, angiogenesis and tissue remodeling by binding and sequestering various growth factors with distinct binding affinities, depending on the type of complex, LMW, MMW or HMW ["1-18"] ["None"] 1C3H AB012165 6362247 ADIPOQ Chromosome:3 3q27 ADIPOQ HGNC:13633 true 2020-06-12T23:07:00Z 2020-07-28T02:33:41Z 0 0 0 1971 CDBP01970 Cysteine desulfurase, mitochondrial Q9Y697 NFS1_HUMAN true false Enzyme Homo_sapiens NFS1 457 44361.485 7.544 Involved in metabolic process Catalyzes the removal of elemental sulfur from cysteine to produce alanine. It supplies the inorganic sulfur for iron-sulfur (Fe-S) clusters. May be involved in the biosynthesis of molybdenum cofactor. AF097025 24042327 NFS1 20 20q11.22 NFS1 HGNC:15910 true hsa:9054 HS01304-MONOMER NP_001185918.1:NM_001198989.1;NP_066923.3:NM_021100.4 Predominantly expressed in heart and skeletal muscle. Also found in brain, liver and pancreas. Pyridoxal phosphate Binds ISCU/NIFUN. Forms a complex with LYRM4 2020-06-12T23:07:00Z 2020-07-28T02:27:23Z 0 0 0 1972 CDBP01971 Serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform P67775 PP2AA_HUMAN true false Enzyme Homo_sapiens PPP2CA 309 35593.93 5.537 Involved in hydrolase activity PP2A is the major phosphatase for microtubule-associated proteins (MAPs). PP2A can modulate the activity of phosphorylase B kinase casein kinase 2, mitogen-stimulated S6 kinase, and MAP-2 kinase. Cooperates with SGOL2 to protect centromeric cohesin from separase-mediated cleavage in oocytes specifically during meiosis I (By similarity). Can dephosphorylate SV40 large T antigen and p53/TP53. Activates RAF1 by dephosphorylating it at 'Ser-259'. 2IAE;2IE3;2IE4;2NPP;2NYL;2NYM;3C5W;3DW8;3FGA;3K7V;3K7W;3P71 X12646 36120 PPP2CA 5 5q31.1 PPP2CA HGNC:9299 true hsa:5515 HS03696-MONOMER NP_002706.1:NM_002715.2 iron ion;manganese ion PP2A consists of a common heterodimeric core enzyme, composed of PPP2CA a 36 kDa catalytic subunit (subunit C) and PPP2R1A a 65 kDa constant regulatory subunit (PR65 or subunit A), that associates with a variety of regulatory subunits. Proteins that associate with the core dimer include three families of regulatory subunits B (the R2/B/PR55/B55, R3/B''/PR72/PR130/PR59 and R5/B'/B56 families), the 48 kDa variable regulatory subunit, viral proteins, and cell signaling molecules. Interacts with NXN; the interaction is direct . Interacts with TP53, SGOL1 and SGOL2. Interacts with AXIN1; the interaction dephosphorylates AXIN1. Interacts with PIM3; this interaction promotes dephosphorylation, ubiquitination and proteasomal degradation of PIM3. Interacts with RAF1. Interaction with IGBP1 protects unassembled PPP2CA from degradative ubiquitination 2020-06-12T23:07:01Z 2020-07-28T02:27:23Z 1 1 1 1973 CDBP01972 Arylsulfatase H Q5FYA8 ARSH_HUMAN true false Enzyme Homo_sapiens ARSH 562 63524.7 8.24 Involved in catalytic activity ["None"] ["167-187", "189-209"] AY875940 58201090 ARSH ARSH HGNC:32488 true 2020-06-12T23:07:01Z 2020-07-28T02:27:23Z 0 0 0 1974 CDBP01973 Urea transporter 2 Q15849 UT2_HUMAN false true Transporter Homo_sapiens SLC14A2 920 101207.965 6.944 Involved in urea transmembrane transporter activity Specialized low-affinity vasopressin-regulated urea transporter. Mediates rapid transepithelial urea transport across the inner medullary collecting duct and plays a major role in the urinary concentrating mechanism. NM_007163.3 157694503 SLC14A2 18 18q12.1-q21.1 SLC14A2 HGNC:10919 true hsa:8170 NP_001229621.1:NM_001242692.1;NP_009094.3:NM_007163.3 Isoform 1 and isoform 2 are expressed in the inner medulla of the kidney. Isoform 1 interacts with SNAPIN which may be important for recruitment to the plasma membrane 2020-06-12T23:07:01Z 2020-06-12T23:07:01Z 0 0 0 1975 CDBP01974 Phosphatidylinositol transfer protein alpha isoform Q00169 PIPNA_HUMAN false false Enzyme Homo_sapiens PITPNA 270 31806.2 6.52 Involved in phosphatidylcholine transmembrane transport Catalyzes the transfer of PtdIns and phosphatidylcholine between membranes ["None"] ["None"] 1T27 BC045108 28175608 PITPNA Chromosome:1 17p13.3 true 2020-06-12T23:07:01Z 2020-07-28T02:33:41Z 0 0 0 1976 CDBP01975 Transcription factor NF-E2 45 kDa subunit Q16621 NFE2_HUMAN false false Transcription Factor Homo_sapiens NFE2 373 41472.2 4.59 Involved in sequence-specific DNA binding transcription factor activity Component of the NF-E2 complex essential for regulating erythroid and megakaryocytic maturation and differentiation. Binds to the hypersensitive site 2 (HS2) of the beta-globin control region (LCR). This subunit (NFE2) recognizes the TCAT/C sequence of the AP-1-like core palindrome present in a number of erythroid and megakaryocytic gene promoters. Requires MAFK or other small MAF proteins for binding to the NF-E2 motif. May play a role in all aspects of hemoglobin production from globin and heme synthesis to procurement of iron ["None"] ["None"] BC005044 13477165 NFE2 Chromosome:1 12q13 NFE2 HGNC:7780 true 2020-06-12T23:07:01Z 2020-07-28T02:32:06Z 0 0 1 1977 CDBP01976 Potassium voltage-gated channel subfamily KQT member 1 P51787 KCNQ1_HUMAN false true Transporter Homo_sapiens KCNQ1 676 74697.9 10.39 Involved in ion channel activity Probably important in cardiac repolarization. Associates with KCNE1 (MinK) to form the I(Ks) cardiac potassium current. Elicits a rapidly activating, potassium-selective outward current. Muscarinic agonist oxotremorine-M strongly suppresses KCNQ1/KCNE1 current in CHO cells in which cloned KCNQ1/KCNE1 channels were coexpressed with M1 muscarinic receptors. May associate also with KCNE3 (MiRP2) to form the potassium channel that is important for cyclic AMP-stimulated intestinal secretion of chloride ions, which is reduced in cystic fibrosis and pathologically stimulated in cholera and other forms of secretory diarrhea ["None"] ["122-142", "148-168", "197-217", "226-248", "262-282", "328-348"] AF000571 KCNQ1 Chromosome:1 11p15.5 KCNQ1 HGNC:6294 true 2020-06-12T23:07:01Z 2020-07-28T02:32:08Z 0 0 0 1978 CDBP01977 D(4) dopamine receptor P21917 DRD4_HUMAN true false Enzyme Homo_sapiens DRD4 467 48359.9 8.37 Involved in G-protein coupled receptor protein signaling pathway This is one of the five types (D1 to D5) of receptors for dopamine. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase ["None"] ["38-60", "71-93", "110-131", "152-175", "192-213", "395-417", "427-449"] L12398 291946 DRD4 Chromosome:1 11p15.5 DRD4 HGNC:3025 true 2020-06-12T23:07:01Z 2020-07-28T02:27:23Z 1 0 0 1979 CDBP01978 Histone acetyltransferase KAT2A Q92830 KAT2A_HUMAN true false Enzyme Homo_sapiens KAT2A 837 93924.72 9.04 Involved in N-acetyltransferase activity Functions as a histone acetyltransferase (HAT) to promote transcriptional activation. Acetylation of histones gives a specific tag for epigenetic transcription activation. Has significant histone acetyltransferase activity with core histones, but not with nucleosome core particles. In case of HIV-1 infection, it is recruited by the viral protein Tat. Regulates Tat's transactivating activity and may help inducing chromatin remodeling of proviral genes. Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. 1F68;1Z4R;3D7C AF029777 3220164 KAT2A 17 17q21 KAT2A HGNC:4201 true hsa:2648 NP_066564.2:NM_021078.2 Expressed in all tissues tested, with most abundant expression in ovary. Interacts with EP300, CREBBP and ADA2. Component of the TFTC-HAT complex, at least composed of TAF5L, TAF6L, TAF3, TADA3L, SUPT3H/SPT3, TAF2/TAFII150, TAF4/TAFII135, TAF5/TAFII100, KAT2A/GCN5L2, TAF10 and TRRAP. Interacts with TRRAP. Component of the STAGA transcription coactivator-HAT complex, at least composed of SUPT3H, KAT2A, SUPT7L, TAF5L, TAF6L, TADA3L, TAD1L, TAF10, TAF12, TRRAP and TAF9. The STAGA core complex is associated with a subcomplex required for histone deubiquitination composed of ATXN7L3, ENY2 and USP22. Interacts with and acetylates HIV-1 Tat. Component of the ADA2A-containing complex (ATAC), composed of CSRP2BP, KAT2A, TADA2L, TADA3L, ZZ3, MBIP, WDR5, YEATS2, CCDC101 and DR1. In the complex, it probably interacts directly with CSRP2BP, MBIP and WDR5 2020-06-12T23:07:01Z 2020-07-28T02:27:24Z 0 0 1 1980 CDBP01979 Endothelin B receptor P24530 EDNRB_HUMAN false false Receptor Homo_sapiens EDNRB 442 49643.3 9.05 Involved in G-protein coupled receptor protein signaling pathway Non-specific receptor for endothelin 1, 2, and 3. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system ["1-26"] ["102-126", "138-163", "176-197", "219-243", "272-296", "325-350", "363-389"] M74921 EDNRB Chromosome:1 13q22 EDNRB HGNC:3180 true 2020-06-12T23:07:01Z 2020-07-28T02:27:24Z 1 0 0 1981 CDBP01980 Neprilysin P08473 NEP_HUMAN false false Enzyme Homo_sapiens MME 750 85513.2 5.43 Involved in metalloendopeptidase activity Thermolysin-like specificity, but is almost confined on acting on polypeptides of up to 30 amino acids. Biologically important in the destruction of opioid peptides such as Met- and Leu-enkephalins by cleavage of a Gly-Phe bond. Able to cleave angiotensin-1, angiotensin-2 and angiotensin 1-9. Involved in the degradation of atrial natriuretic factor (ANF) ["None"] ["29-51"] 1DMT Y00811 29626 MME Chromosome:3 3q25.1-q25.2 MME HGNC:7154 true 2020-06-12T23:07:01Z 2020-07-28T02:33:41Z 0 0 0 1982 CDBP01981 Low affinity sodium-glucose cotransporter Q9NY91 SC5A4_HUMAN false true Transporter Homo_sapiens SLC5A4 659 72454.78 6.154 Involved in transporter activity Sodium-dependent glucose transporter (By similarity). AJ133127 7263938 SLC5A4 22 22q12.3 SLC5A4 HGNC:11039 true hsa:6527 NP_055042.1:NM_014227.2 2020-06-12T23:07:01Z 2020-07-28T02:32:08Z 0 0 0 1983 CDBP01982 Poly(ADP-ribose) glycohydrolase ARH3 Q9NX46 ARHL2_HUMAN true false Enzyme Homo_sapiens ADPRHL2 363 38946.4 4.7 Posttranslational modification, protein turnover, chaperones Poly(ADP-ribose) synthesized after DNA damage is only present transiently and is rapidly degraded by poly(ADP-ribose) glycohydrolase. Poly(ADP-ribose) metabolism may be required for maintenance of the normal function of neuronal cells. Generates ADP-ribose from poly-(ADP-ribose), but does not hydrolyze ADP- ribose-arginine, -cysteine, -diphthamide, or -asparagine bonds ["None"] ["None"] AF212236 13182753 ADPRHL2 Chromosome:1 1p34.3 ADPRHL2 HGNC:21304 true 2020-06-12T23:07:01Z 2020-07-28T02:27:24Z 0 0 0 1984 CDBP01983 Sodium-dependent dopamine transporter Q01959 SC6A3_HUMAN false true Transporter Homo_sapiens SLC6A3 620 68494.255 6.919 Involved in neurotransmitter:sodium symporter activity Amine transporter. Terminates the action of dopamine by its high affinity sodium-dependent reuptake into presynaptic terminals. M95167 181656 SLC6A3 5 5p15.3 SLC6A3 HGNC:11049 true hsa:6531 NP_001035.1:NM_001044.4 Homooligomer; disulfide-linked. Interacts with PRKCABP and TGFB1I1. Interacts (via N-terminus) with SYNGR3 (via N-terminus) . Interacts with SLC18A2 (By similarity) 2020-06-12T23:07:01Z 2020-07-28T02:32:08Z 0 0 0 1985 CDBP01984 Phospholipid transfer protein P55058 PLTP_HUMAN false false Enzyme Homo_sapiens PLTP 493 54738.8 7.01 Involved in lipid binding Converts HDL into larger and smaller particles. May play a key role in extracellular phospholipid transport and modulation of hdl particles ["1-17"] ["None"] AB076694 18143452 PLTP Chromosome:2 20q13.12 PLTP HGNC:9093 true 2020-06-12T23:07:01Z 2020-07-28T02:33:41Z 0 0 0 1986 CDBP01985 Sodium/bile acid cotransporter Q14973 NTCP_HUMAN false true Transporter Homo_sapiens SLC10A1 349 38118.64 8.788 Involved in bile acid:sodium symporter activity The hepatic sodium/bile acid uptake system exhibits broad substrate specificity and transports various non-bile acid organic compounds as well. It is strictly dependent on the extracellular presence of sodium. L21893 SLC10A1 14 14q24.1 SLC10A1 HGNC:10905 true hsa:6554 NP_003040.1:NM_003049.3 2020-06-12T23:07:01Z 2020-06-12T23:07:01Z 0 0 0 1987 CDBP01986 14-3-3 protein zeta/delta P63104 1433Z_HUMAN true false Enzyme Homo_sapiens YWHAZ 245 27744.8 4.43 Involved in protein domain specific binding Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathway. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner ["None"] ["None"] 1QJA M86400 YWHAZ Chromosome:8 8q23.1 YWHAZ HGNC:12855 true 2020-06-12T23:07:01Z 2020-06-12T23:07:01Z 0 0 0 1988 CDBP01987 Bifunctional ATP-dependent dihydroxyacetone kinase/FAD-AMP lyase (cyclizing) Q3LXA3 DHAK_HUMAN true false Enzyme Homo_sapiens DAK 575 58946.49 7.493 Carbohydrate transport and metabolism Catalyzes both the phosphorylation of dihydroxyacetone and of glyceraldehyde, and the splitting of ribonucleoside diphosphate-X compounds among which FAD is the best substrate. AK023915 10435998 DAK 11 11q12.2 HGNC:24552 true hsa:26007 NP_056348.2:NM_015533.3 Detected in erythrocytes (at protein level). Magnesium;Manganese or cobalt; for FAD-AMP lyase activity Homodimer 2020-06-12T23:07:01Z 2020-07-28T02:27:24Z 0 1 0 1989 CDBP01988 Sodium/hydrogen exchanger 1 P19634 SL9A1_HUMAN false true Transporter Homo_sapiens SLC9A1 815 90762.1 7.22 Involved in solute:hydrogen antiporter activity Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction ["None"] ["13-33", "106-127", "130-149", "155-174", "192-211", "228-247", "257-276", "295-315", "339-358", "411-430", "449-470", "480-499"] 1Y4E S68616 SLC9A1 Chromosome:1 1p36.1-p35 SLC9A1 HGNC:11071 true 2020-06-12T23:07:01Z 2020-07-28T02:32:08Z 0 0 0 1990 CDBP01989 Gastrin/cholecystokinin type B receptor P32239 GASR_HUMAN false false Receptor Homo_sapiens CCKBR 447 48418.5 10.24 Involved in G-protein coupled receptor protein signaling pathway Isoform 2 is constitutively activated and may regulate cancer cell proliferation via a gastrin-independent mechanism ["None"] ["58-79", "88-109", "132-150", "171-189", "220-242", "334-355", "374-394"] L04473 CCKBR Chromosome:1 11p15.4 CCKBR HGNC:1571 true 2020-06-12T23:07:01Z 2020-07-28T02:27:24Z 1 0 0 1991 CDBP01990 cAMP-dependent protein kinase type I-alpha regulatory subunit P10644 KAP0_HUMAN true false Enzyme Homo_sapiens PRKAR1A 381 42981.3 5.0 Involved in cAMP-dependent protein kinase regulator activity ["None"] ["None"] 1RL3 M18468 179922 PRKAR1A Chromosome:1 17q23-q24 PRKAR1A HGNC:9388 true 2020-06-12T23:07:01Z 2020-07-28T02:27:24Z 0 0 0 1992 CDBP01991 Sphingosine 1-phosphate receptor 4 O95977 S1PR4_HUMAN true false Enzyme Homo_sapiens S1PR4 384 41622.5 10.26 Involved in G-protein coupled receptor protein signaling pathway Receptor for the lysosphingolipid sphingosine 1- phosphate (S1P). S1P is a bioactive lysophospholipid that elicits diverse physiological effect on most types of cells and tissues. May be involved in cell migration processes that are specific for lymphocytes ["None"] ["51-71", "85-105", "118-138", "162-182", "207-227", "253-273", "289-309"] AJ000479 3805932 S1PR4 Chromosome:1 19p13.3 S1PR4 HGNC:3170 true 2020-06-12T23:07:01Z 2020-07-28T02:27:24Z 1 0 0 1993 CDBP01992 Recoverin P35243 RECO_HUMAN false false Metal Binding Homo_sapiens RCVRN 200 23130.1 4.79 Involved in calcium ion binding Seems to be implicated in the pathway from retinal rod guanylate cyclase to rhodopsin. May be involved in the inhibition of the phosphorylation of rhodopsin in a calcium-dependent manner. The calcium-bound recoverin prolongs the photoresponse ["None"] ["None"] 1JSA AB001838 1902890 RCVRN Chromosome:1 17p13.1 true 2020-06-12T23:07:01Z 2020-07-28T02:31:58Z 0 1 0 1994 CDBP01993 Midkine P21741 MK_HUMAN true false Enzyme Homo_sapiens MDK 143 15585.1 10.49 Involved in growth factor activity Has heparin binding activity, and growth promoting activity. Involved in neointima formation after arterial injury, possibly by mediating leukocyte recruitment. Also involved in early fetal adrenal gland development ["1-20"] ["None"] 1MKN BC011704 15079798 MDK Chromosome:1 11p11.2 MDK HGNC:6972 true 2020-06-12T23:07:01Z 2020-07-28T02:27:24Z 1 0 0 1995 CDBP01994 5-hydroxytryptamine receptor 1A P08908 5HT1A_HUMAN true false Enzyme Homo_sapiens HTR1A 422 46106.3 9.05 Involved in G-protein coupled receptor protein signaling pathway This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins that inhibit adenylate cyclase activity ["None"] ["37-62", "74-98", "110-132", "153-178", "192-217", "346-367", "379-403"] AF498978 20379130 HTR1A Chromosome:5 5q11.2-q13 HTR1A HGNC:5286 true 2020-06-12T23:07:01Z 2020-07-28T02:27:24Z 1 0 0 1996 CDBP01995 Carbohydrate sulfotransferase 14 Q8NCH0 CHSTE_HUMAN true false Enzyme Homo_sapiens CHST14 376 42996.535 9.486 Involved in sulfotransferase activity Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of dermatan sulfate. Plays a pivotal role in the formation of 4-0-sulfated IdoA blocks in dermatan sulfate. Transfers sulfate to the C-4 hydroxyl of beta1,4-linked GalNAc that is substituted with an alpha-linked iduronic acid (IdoUA) at the C-3 hydroxyl. Transfers sulfate more efficiently to GalNAc residues in -IdoUA-GalNAc-IdoUA- than in -GlcUA-GalNAc-GlcUA-sequences. Has preference for partially desulfated dermatan sulfate. Addition of sulfate to GalNAc may occur immediately after epimerization of GlcUA to IdoUA. GlcUA to IdoUA. Appears to have an important role in the formation of the cerbellar neural network during postnatal brain development. AB066595 18369804 CHST14 15 15q15.1 CHST14 HGNC:24464 true hsa:113189 ENSG00000169105-MONOMER NP_569735.1:NM_130468.3 Widely expressed. Expressed at high level in pituitary gland, placenta, uterus and thyroid. 2020-06-12T23:07:01Z 2020-06-12T23:07:01Z 0 0 0 1997 CDBP01996 Sialic acid-binding Ig-like lectin 7 Q9Y286 SIGL7_HUMAN true false Enzyme Homo_sapiens SIGLEC7 467 51142.3 7.32 Involved in receptor activity Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Preferentially binds to alpha-2,3- and alpha-2,6-linked sialic acid. Also binds disialogangliosides (disialogalactosyl globoside, disialyl lactotetraosylceramide and disialyl GalNAc lactotetraoslylceramide). The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface. In the immune response, may act as an inhibitory receptor upon ligand induced tyrosine phosphorylation by recruiting cytoplasmic phosphatase(s) via their SH2 domain(s) that block signal transduction through dephosphorylation of signaling molecules. Mediates inhibition of natural killer cells cytotoxicity. May play a role in hemopoiesis. Inhibits differentiation of CD34+ cell precursors towards myelomonocytic cell lineage and proliferation of leukemic myeloid cells (in vitro) ["1-18"] ["354-376"] 1NKO AF170485 SIGLEC7 Chromosome:1 19q13.3 SIGLEC7 HGNC:10876 true 2020-06-12T23:07:01Z 2020-06-12T23:07:01Z 0 0 0 1998 CDBP01997 Carbonic anhydrase 3 P07451 CAH3_HUMAN true false Enzyme Homo_sapiens CA3 260 29557.215 7.338 Involved in carbonate dehydratase activity Reversible hydration of carbon dioxide. 1Z93;1Z97;2HFW;3UYN;3UYQ NM_005181.3 4885099 CA3 8 8q21.2 CA3 HGNC:1374 true hsa:761 NP_005172.1:NM_005181.3 Muscle specific. Zinc 2020-06-12T23:07:01Z 2020-07-28T02:27:25Z 0 1 0 1999 CDBP01998 Solute carrier family 22 member 1 O15245 S22A1_HUMAN false true Transporter Homo_sapiens SLC22A1 554 61187.4 6.81 Involved in ion transmembrane transporter activity Translocates a broad array of organic cations with various structures and molecular weights including the model compounds 1-methyl-4-phenylpyridinium (MPP), tetraethylammonium (TEA), N-1-methylnicotinamide (NMN), 4-(4-(dimethylamino)styryl)- N-methylpyridinium (ASP), the endogenous compounds choline, guanidine, histamine, epinephrine, adrenaline, noradrenaline and dopamine, and the drugs quinine, and metformin. The transport of organic cations is inhibited by a broad array of compounds like tetramethylammonium (TMA), cocaine, lidocaine, NMDA receptor antagonists, atropine, prazosin, cimetidine, TEA and NMN, guanidine, cimetidine, choline, procainamide, quinine, tetrabutylammonium, and tetrapentylammonium. Translocates organic cations in an electrogenic and pH-independent manner. Translocates organic cations across the plasma membrane in both directions. Transports the polyamines spermine and spermidine. Transports pramipexole across the basolateral membrane of the proximal tubular epithelial cells. The choline transport is activated by MMTS. Regulated by various intracellular signaling pathways including inhibition by protein kinase A activation, and endogenously activation by the calmodulin complex, the calmodulin- dependent kinase II and LCK tyrosine kinase ["None"] ["22-42", "150-170", "177-197", "207-229", "236-256", "263-283", "348-368", "377-397", "403-423", "432-452", "465-485", "493-513"] X98332 2511670 SLC22A1 Chromosome:6 6q26 SLC22A1 HGNC:10963 true 2020-06-12T23:07:01Z 2020-06-12T23:07:01Z 0 0 0 2000 CDBP01999 Chloride channel protein 1 P35523 CLCN1_HUMAN false true Transporter Homo_sapiens CLCN1 988 108754.6 5.92 Involved in ion channel activity Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport ["None"] ["115-152", "159-182", "207-225", "232-250", "302-321", "348-376", "385-404", "454-474", "482-505", "556-573"] Z25884 398161 CLCN1 Chromosome:7 7q32-qter|7q35 CLCN1 HGNC:2019 true 2020-06-12T23:07:01Z 2020-07-28T02:32:08Z 0 0 0 2001 CDBP02000 Uridine-cytidine kinase 2 Q9BZX2 UCK2_HUMAN true false Enzyme Homo_sapiens UCK2 261 29298.92 6.698 Involved in ATP binding Phosphorylates uridine and cytidine to uridine monophosphate and cytidine monophosphate. Does not phosphorylate deoxyribonucleosides or purine ribonucleosides. Can use ATP or GTP as a phosphate donor. Can also phosphorylate cytidine and uridine nucleoside analogs such as 6-azauridine, 5-fluorouridine, 4-thiouridine, 5-bromouridine, N(4)-acetylcytidine, N(4)-benzoylcytidine, 5-fluorocytidine, 2-thiocytidine, 5-methylcytidine, and N(4)-anisoylcytidine. 1UDW;1UEI;1UEJ;1UFQ;1UJ2;1XRJ NM_012474.3 18699734 UCK2 1 1q23 UCK2 HGNC:12562 true hsa:7371 NP_036606.2:NM_012474.4 According to PubMed:8812458; testis-specific. According to PubMed:11306702, placenta-specific. Homotetramer 2020-06-12T23:07:01Z 2020-07-28T02:27:25Z 0 0 0 2002 CDBP02001 Transferrin receptor protein 1 P02786 TFR1_HUMAN false false Receptor Homo_sapiens TFRC 760 84870.7 6.58 Involved in peptidase activity Cellular uptake of iron occurs via receptor-mediated endocytosis of ligand-occupied transferrin receptor into specialized endosomes. Endosomal acidification leads to iron release. The apotransferrin-receptor complex is then recycled to the cell surface with a return to neutral pH and the concomitant loss of affinity of apotransferrin for its receptor. Transferrin receptor is necessary for development of erythrocytes and the nervous system. A second ligand, the heditary hemochromatosis protein HFE, competes for binding with transferrin for an overlapping C-terminal binding site ["None"] ["68-88"] 1DE4 NM_001128148.1 189458819 TFRC Chromosome:3 3q29 TFRC HGNC:11763 true 2020-06-12T23:07:01Z 2020-07-28T02:27:25Z 1 0 0 2003 CDBP02002 Beta-nerve growth factor P01138 NGF_HUMAN true false Enzyme Homo_sapiens NGF 241 26958.5 10.54 Involved in receptor binding Nerve growth factor is important for the development and maintenance of the sympathetic and sensory nervous systems. It stimulates division and differentiation of sympathetic and embryonic sensory neurons ["1-18"] ["None"] 1SG1 AB037517 6815205 NGF Chromosome:1 1p13.1 NGF HGNC:7808 true 2020-06-12T23:07:01Z 2020-07-28T02:27:25Z 1 0 0 2004 CDBP02003 Leptin P41159 LEP_HUMAN true false Enzyme Homo_sapiens LEP 167 18640.4 6.34 Involved in hormone activity May function as part of a signaling pathway that acts to regulate the size of the body fat depot. An increase in the level of LEP may act directly or indirectly on the CNS to inhibit food intake and/or regulate energy expenditure as part of a homeostatic mechanism to maintain constancy of the adipose mass ["1-21"] ["None"] 1AX8 U18915 LEP Chromosome:7 7q31.3 LEP HGNC:6553 true 2020-06-12T23:07:01Z 2020-07-28T02:27:25Z 1 0 0 2005 CDBP02004 Aquaporin-3 Q92482 AQP3_HUMAN true true Enzyme Homo_sapiens AQP3 292 31543.6 7.25 Involved in transporter activity Water channel required to promote glycerol permeability and water transport across cell membranes. Acts as a glycerol transporter in skin and plays an important role in regulating SC (stratum corneum) and epidermal glycerol content. Involved in skin hydration, wound healing, and tumorigenesis. Provides kidney medullary collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient. Slightly permeable to urea and may function as a water and urea exit mechanism in antidiuresis in collecting duct cells. It may play an important role in gastrointestinal tract water transport and in glycerol metabolism ["None"] ["29-49", "54-74", "110-130", "158-178", "189-209", "245-265"] AB001325 1854374 AQP3 Chromosome:9 9p13 AQP3 HGNC:636 true 2020-06-12T23:07:01Z 2020-07-28T02:27:25Z 0 0 0 2006 CDBP02005 Receptor-type tyrosine-protein phosphatase C P08575 PTPRC_HUMAN true false Enzyme Homo_sapiens PTPRC 1304 147485.375 6.155 Involved in phosphatase activity Protein tyrosine-protein phosphatase required for T-cell activation through the antigen receptor. Acts as a positive regulator of T-cell coactivation upon binding to DPP4. The first PTPase domain has enzymatic activity, while the second one seems to affect the substrate specificity of the first one. Upon T-cell activation, recruits and dephosphorylates SKAP1 and FYN. Dephosphorylates LYN, and thereby modulates LYN activity (By similarity). 1YGR;1YGU NM_002838.3 18641347 PTPRC 1 1q31-q32 PTPRC HGNC:9666 true hsa:5788 NP_002829.3:NM_002838.4;NP_563578.2:NM_080921.3 Binds GANAB and PRKCSH . Interacts with SKAP1. Interacts with DPP4; the interaction is enhanced in a interleukin-12-dependent manner in activated lymphocytes 2020-06-12T23:07:01Z 2020-07-28T02:27:25Z 1 0 0 2007 CDBP02006 ATP-sensitive inward rectifier potassium channel 1 P48048 IRK1_HUMAN false true Transporter Homo_sapiens KCNJ1 391 44794.6 9.04 Involved in inward rectifier potassium channel activity In the kidney, probably plays a major role in potassium homeostasis. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. This channel is activated by internal ATP and can be blocked by external barium ["None"] ["78-102", "156-177"] U12541 KCNJ1 Chromosome:1 11q24 KCNJ1 HGNC:6255 true 2020-06-12T23:07:01Z 2020-07-28T02:32:08Z 0 0 0 2008 CDBP02007 Nuclear receptor ROR-alpha P35398 RORA_HUMAN true false Enzyme Homo_sapiens RORA 556 63035.2 6.34 Involved in sequence-specific DNA binding transcription factor activity Orphan nuclear receptor. Binds DNA as a monomer to hormone response elements (HRE) containing a single core motif half-site preceded by a short A-T-rich sequence. This isomer binds to the consensus sequence 5'-[AT][TA]A[AT][CGT]TAGGTCA-3'. Regulates a number of genes involved in lipid metabolism such as apolipoproteins AI, APOA5, CIII, CYP71 and PPARgamma, in cerebellum and photoreceptor development including PCP2, OPN1SW, OPN1SM AND ARR3, in circadian rhythm with BMAL1, and skeletal muscle development with MYOD1. Possible receptor for cholesterol or one of its derivatives ["None"] ["None"] 1S0X NM_134260.2 19743901 RORA Chromosome:1 15q22.2 RORA HGNC:10258 true 2020-06-12T23:07:01Z 2020-07-28T02:27:25Z 1 1 1 2009 CDBP02008 Stromelysin-1 P08254 MMP3_HUMAN false false Metal Binding Homo_sapiens MMP3 477 53976.8 6.07 Involved in metalloendopeptidase activity Can degrade fibronectin, laminin, gelatins of type I, III, IV, and V; collagens III, IV, X, and IX, and cartilage proteoglycans. Activates procollagenase ["1-17"] ["None"] 1SLM X05232 36633 MMP3 Chromosome:1 11q22.3 MMP3 HGNC:7173 true 2020-06-12T23:07:01Z 2020-07-28T02:31:58Z 0 1 0 2010 CDBP02009 Copper transport protein ATOX1 O00244 ATOX1_HUMAN false false Metal Binding Homo_sapiens ATOX1 68 7401.575 7.239 Involved in metal ion binding Binds and deliver cytosolic copper to the copper ATPase proteins. May be important in cellular antioxidant defense. 1FE0;1FE4;1FEE;1TL4;1TL5;2K1R;3CJK;3IWL;3IWX AK293063 158259587 ATOX1 5 5q32 ATOX1 HGNC:798 true hsa:475 NP_004036.1:NM_004045.3 Ubiquitous. Interacts with ATP7B 2020-06-12T23:07:01Z 2020-07-28T02:31:58Z 0 1 0 2011 CDBP02010 Ribonuclease H2 subunit A O75792 RNH2A_HUMAN true false Enzyme Homo_sapiens RNASEH2A 299 33394.6 4.88 Involved in nucleic acid binding Catalytic subunit of RNase HII, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging- strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes ["None"] ["None"] Z97029 3334761 RNASEH2A Chromosome:1 19p13.2 RNASEH2A HGNC:18518 true 2020-06-12T23:07:01Z 2020-07-28T02:27:25Z 0 0 0 2012 CDBP02011 Cytochrome b-245 light chain P13498 CY24A_HUMAN false false Metal Binding Homo_sapiens CYBA 195 20958.3 10.03 Involved in heme binding Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. Associates with NOX3 to form a functional NADPH oxidase constitutively generating superoxide ["None"] ["None"] 1OV3 NM_000101.2 68509914 CYBA Chromosome:1 16q24 CYBA HGNC:2577 true 2020-06-12T23:07:01Z 2020-07-28T02:31:58Z 0 1 0 2013 CDBP02012 Serine/threonine-protein kinase B-raf P15056 BRAF_HUMAN true false Enzyme Homo_sapiens BRAF 766 84436.1 7.58 Involved in intracellular signaling pathway Involved in the transduction of mitogenic signals from the cell membrane to the nucleus. May play a role in the postsynaptic responses of hippocampal neuron ["None"] ["None"] 1UWJ NM_004333.4 33188459 BRAF Chromosome:7 7q34 BRAF HGNC:1097 true 2020-06-12T23:07:01Z 2020-07-28T02:27:26Z 1 0 0 2014 CDBP02013 Sphingosine 1-phosphate receptor 2 O95136 S1PR2_HUMAN true false Enzyme Homo_sapiens S1PR2 353 38866.5 9.1 Involved in G-protein coupled receptor protein signaling pathway Receptor for the lysosphingolipid sphingosine 1- phosphate (S1P). S1P is a bioactive lysophospholipid that elicits diverse physiological effect on most types of cells and tissues. When expressed in rat HTC4 hepatoma cells, is capable of mediating S1P-induced cell proliferation and suppression of apoptosis ["None"] ["35-59", "67-95", "110-128", "148-173", "190-210", "234-255", "272-292"] AF034780 4090956 S1PR2 Chromosome:1 19p13.2 S1PR2 HGNC:3169 true 2020-06-12T23:07:01Z 2020-07-28T02:27:26Z 1 0 0 2015 CDBP02014 Kynurenine 3-monooxygenase O15229 KMO_HUMAN true false Enzyme Homo_sapiens KMO 486 55809.445 9.032 Involved in monooxygenase activity Catalyzes the hydroxylation of L-kynurenine (L-Kyn) to form 3-hydroxy-L-kynurenine (L-3OHKyn). Required for synthesis of quinolinic acid, a neurotoxic NMDA receptor antagonist and potential endogenous inhibitor of NMDA receptor signaling in axonal targeting, synaptogenesis and apoptosis during brain development. Quinolinic acid may also affect NMDA receptor signaling in pancreatic beta cells, osteoblasts, myocardial cells, and the gastrointestinal tract. Y13153 2239124 KMO 1 1q42-q44 KMO HGNC:6381 true hsa:8564 HS04082-MONOMER NP_003670.2:NM_003679.4 Highest levels in placenta and liver. Detectable in kidney. FAD 2020-06-12T23:07:01Z 2020-07-28T02:27:26Z 0 0 0 2016 CDBP02015 Dehydrogenase/reductase SDR family member 9 Q9BPW9 DHRS9_HUMAN true false Enzyme Homo_sapiens DHRS9 319 35226.8 8.89 Involved in oxidoreductase activity 3-alpha-hydroxysteroid dehydrogenase that converts 3- alpha-tetrahydroprogesterone (allopregnanolone) to dihydroxyprogesterone and 3-alpha-androstanediol to dihydroxyprogesterone. May play a role in the biosynthesis of retinoic acid from retinaldehyde, but seems to have low activity with retinoids. Can utilize both NADH and NADPH ["1-17"] ["None"] AF343729 DHRS9 Chromosome:2 2q31.1 DHRS9 HGNC:16888 true 2020-06-12T23:07:01Z 2020-06-12T23:07:01Z 0 0 0 2017 CDBP02016 Angiotensinogen P01019 ANGT_HUMAN true false Enzyme Homo_sapiens AGT 485 53153.7 6.27 Involved in serine-type endopeptidase inhibitor activity Angiotensin 1-7 is a ligand for the G-protein coupled receptor MAS1. Has vasodilator and antidiuretic effects. Has an antithrombotic effect that involves MAS1-mediated release of nitric oxide from platelets ["1-33"] ["None"] K02215 178640 AGT Chromosome:1 1q42-q43 AGT HGNC:333 true 2020-06-12T23:07:01Z 2020-06-12T23:07:01Z 0 0 0 2018 CDBP02017 Serine/threonine-protein kinase mTOR P42345 MTOR_HUMAN true false Enzyme Homo_sapiens MTOR 2549 288889.0 7.17 Involved in binding Kinase subunit of both mTORC1 and mTORC2, which regulate cell growth and survival in response to nutrient and hormonal signals. mTORC1 is activated in response to growth factors or amino-acids. Amino-acid-signaling to mTORC1 is mediated by Rag GTPases, which cause amino-acid-induced relocalization of mTOR within the endomembrane system. Growth factor-stimulated mTORC1 activation involves AKT1-mediated phosphorylation of TSC1-TSC2, which leads to the activation of the RHEB GTPase that potently activates the protein kinase activity of mTORC1. Activated mTORC1 up-regulates protein synthesis by phosphorylating key regulators of mRNA translation and ribosome synthesis. mTORC1 phosphorylates EIF4EBP1 and releases it from inhibiting the elongation initiation factor 4E (eiF4E). mTORC1 phosphorylates and activates S6K1 at 'Thr-421', which then promotes protein synthesis by phosphorylating PDCD4 and targeting it for degradation. mTORC2 is also activated by growth factors, but seems to be nutrient- insensitive. mTORC2 seems to function upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors. mTORC2 promotes the serum-induced formation of stress-fibers or F-actin. mTORC2 plays a critical role in AKT1 'Ser-473' phosphorylation, which may facilitate the phosphorylation of the activation loop of AKT1 on 'Thr-308' by PDK1 which is a prerequisite for full activation. mTORC2 regulates the phosphorylation of SGK1 at 'Ser-422'. mTORC2 also modulates the phosphorylation of PRKCA on 'Ser-657' ["None"] ["None"] 1AUE L34075 MTOR Chromosome:1 1p36.2 MTOR HGNC:3942 true 2020-06-12T23:07:01Z 2020-06-12T23:07:01Z 0 0 0 2019 CDBP02018 Copper-transporting ATPase 2 P35670 ATP7B_HUMAN false true Transporter Homo_sapiens ATP7B 1465 157261.34 6.704 Involved in ATP binding Involved in the export of copper out of the cells, such as the efflux of hepatic copper into the bile. 2ARF;2EW9;2KOY;2ROP NM_000053.2 55743071 ATP7B 13 13q14.3 ATP7B HGNC:870 true hsa:540 NP_000044.2:NM_000053.3;NP_001230111.1:NM_001243182.1 Most abundant in liver and kidney and also found in brain. Isoform 2 is expressed in brain but not in liver. The cleaved form WND/140 kDa is found in liver cell lines and other tissues. Monomer. Interacts with COMMD1/MURR1. Interacts with DCTN4, in a copper-dependent manner. Interacts with ATOX1 2020-06-12T23:07:01Z 2020-07-28T02:27:26Z 0 1 0 2020 CDBP02019 Matrix metalloproteinase-20 O60882 MMP20_HUMAN true false Enzyme Homo_sapiens MMP20 483 54359.4 9.08 Involved in metalloendopeptidase activity Degrades amelogenin, the major protein component of the enamel matrix and two of the macromolecules characterizing the cartilage extracellular matrix:aggrecan and the cartilage oligomeric matrix protein (COMP). May play a central role in tooth enamel formation ["1-22"] ["None"] Y12779 3005946 MMP20 Chromosome:1 11q22.3 MMP20 HGNC:7167 true 2020-06-12T23:07:01Z 2020-07-28T02:27:26Z 0 1 0 2021 CDBP02020 Solute carrier family 52, riboflavin transporter, member 1 Q9NWF4 RFT_HUMAN true true Enzyme Homo_sapiens SLC52A1 448 46316.245 6.347 Involved in receptor activity Riboflavin transporter. Riboflavin transport is Na(+)-independent but moderately pH-sensitive. Activity is strongly inhibited by riboflavin analogs, such as lumiflavin. Weakly inhibited by flavin adenine dinucleotide (FAD). In case of infection by retroviruses, acts as a cell receptor to retroviral envelopes similar to the porcine endogenous retrovirus (PERV-A). AB362533 204022240 GPR172B 17 17p13.2 GPR172B HGNC:30225 true hsa:55065 NP_001098047.1:NM_001104577.1;NP_060456.3:NM_017986.3 Widely expressed. Highly expressed in the testis, placenta and small intestine. Expressed at lower level in other tissues. 2020-06-12T23:07:01Z 2020-07-28T02:27:26Z 0 0 0 2022 CDBP02021 Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2 Q9UL51 HCN2_HUMAN false true Transporter Homo_sapiens HCN2 889 96949.4 9.21 Involved in ion channel activity Hyperpolarization-activated ion channel exhibiting weak selectivity for potassium over sodium ions. Contributes to the native pacemaker currents in heart (If) and in neurons (Ih). Produces a large instantaneous current. Activated by cAMP. Modulated by intracellular chloride ions and pH; acidic pH shifts the activation to more negative voltages ["None"] ["216-236", "241-261", "289-309", "318-338", "370-390", "441-461"] 1Q3E AF065164 4996894 HCN2 Chromosome:1 19p13.3 HCN2 HGNC:4846 true 2020-06-12T23:07:01Z 2020-07-28T02:32:08Z 0 0 0 2023 CDBP02022 Sodium-dependent multivitamin transporter Q9Y289 SC5A6_HUMAN false true Transporter Homo_sapiens SLC5A6 635 68641.27 8.26 Involved in transporter activity Transports pantothenate, biotin and lipoate in the presence of sodium. AC013403 62702246 SLC5A6 2 2p23 SLC5A6 HGNC:11041 true hsa:8884 NP_066918.2:NM_021095.2 2020-06-12T23:07:01Z 2020-07-28T02:32:08Z 0 0 0 2024 CDBP02023 Short transient receptor potential channel 3 Q13507 TRPC3_HUMAN false true Receptor Homo_sapiens TRPC3 848 97354.1 6.74 Involved in ion channel activity Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Activated by diacylglycerol (DAG) in a membrane-delimited fashion, independently of protein kinase C, and by inositol-1,4,5- triphosphate receptors (ITPR) with bound IP3. May also be activated by internal calcium store depletion ["None"] ["350-370", "382-402", "431-451", "464-484", "536-556", "580-600", "616-636", "650-670", "707-726"] U47050 TRPC3 Chromosome:4 4q27 TRPC3 HGNC:12335 true 2020-06-12T23:07:01Z 2020-07-28T02:27:26Z 1 0 0 2025 CDBP02024 Cortistatin O00230 CORT_HUMAN false false Receptor Homo_sapiens CORT 105 11532.0 8.82 Involved in hormone activity Binds to all human somatostatin receptor (SSTR) subtypes. It also inhibits cAMP production induced by forskolin through SSTRs ["1-18"] ["None"] AB000263 2055232 CORT Chromosome:1 1p36|1p36.22 CORT HGNC:2257 true 2020-06-12T23:07:01Z 2020-07-28T02:32:17Z 1 0 0 2026 CDBP02025 Renin P00797 RENI_HUMAN false false Enzyme Homo_sapiens REN 406 45057.1 7.07 Involved in aspartic-type endopeptidase activity Renin is a highly specific endopeptidase, whose only known function is to generate angiotensin I from angiotensinogen in the plasma, initiating a cascade of reactions that produce an elevation of blood pressure and increased sodium retention by the kidney ["1-23"] ["None"] 1BBS CR536498 49168484 REN Chromosome:1 1q32 REN HGNC:9958 true 2020-06-12T23:07:01Z 2020-07-28T02:33:42Z 0 0 0 2027 CDBP02026 Cardiac phospholamban P26678 PPLA_HUMAN false false Enzyme Homo_sapiens PLN 52 6108.5 9.56 Involved in calcium channel regulator activity Phospholamban has been postulated to regulate the activity of the calcium pump of cardiac sarcoplasmic reticulum ["None"] ["32-52"] 1FJK AF177764 5916238 PLN Chromosome:6 6q22.1 PLN HGNC:9080 true 2020-06-12T23:07:01Z 2020-07-28T02:33:42Z 0 0 0 2028 CDBP02027 Cubilin O60494 CUBN_HUMAN false true Transporter Homo_sapiens CUBN 3623 398672.8 5.0 Involved in calcium ion binding Cotransporter which plays a role in lipoprotein, vitamin and iron metabolism, by facilitating their uptake. Binds to ALB, MB, Kappa and lambda-light chains, TF, hemoglobin, GC, SCGB1A1, APOA1, high density lipoprotein, and the GIF-cobalamin complex. The binding of all ligands required calcium. Serves as important transporter in several absorptive epithelia, including intestine, renal proximal tubules and embryonic yolk sac. Interaction with LRP2 mediates its trafficking throughout vesicles and facilitates the uptake of specific ligands like GC, hemoglobin, ALB, TF and SCGB1A1. Interaction with AMN controls its trafficking to the plasma membrane and facilitates endocytosis of ligands. May play an important role in the development of the peri-implantation embryo through internalization of APOA1 and cholesterol. Binds to LGALS3 at the maternal-fetal interface ["1-23"] ["None"] AF034611 3929529 CUBN Chromosome:1 10p12.31 CUBN HGNC:2548 true 2020-06-12T23:07:01Z 2020-07-28T02:27:26Z 0 1 0 2029 CDBP02028 Thiamine transporter 1 O60779 S19A2_HUMAN true true Enzyme Homo_sapiens SLC19A2 497 55399.49 6.737 Involved in folic acid binding High-affinity transporter for the intake of thiamine. AF160812 SLC19A2 1 1q23.3 SLC19A2 HGNC:10938 true hsa:10560 NP_008927.1:NM_006996.2 Ubiquitous; most abundant in skeletal and cardiac muscle. Medium expression in placenta, heart, liver and kidney, low in lung. 2020-06-12T23:07:01Z 2020-07-28T02:27:26Z 0 0 0 2030 CDBP02029 Brevican core protein Q96GW7 PGCB_HUMAN true false Enzyme Homo_sapiens BCAN 911 99117.1 4.28 Involved in sugar binding May play a role in the terminally differentiating and the adult nervous system during postnatal development. Could stabilize interactions between hyaluronan (HA) and brain proteoglycans ["1-22"] ["None"] AF228710 10798901 BCAN Chromosome:1 1q31 BCAN HGNC:23059 true 2020-06-12T23:07:01Z 2020-06-12T23:07:01Z 0 0 0 2031 CDBP02030 Calretinin P22676 CALB2_HUMAN false false Metal Binding Homo_sapiens CALB2 271 31539.6 4.79 Involved in calcium ion binding Calretinin is a calcium-binding protein which is abundant in auditory neurons ["None"] ["None"] AK222495 62896549 CALB2 Chromosome:1 16q22.2 true 2020-06-12T23:07:01Z 2020-07-28T02:31:58Z 0 1 0 2032 CDBP02031 Spermine oxidase Q9NWM0 SMOX_HUMAN true false Enzyme Homo_sapiens SMOX 555 65006.29 5.695 Secondary metabolites biosynthesis, transport and catabolism Flavoenzyme which catalyzes the oxidation of spermine to spermidine. Can also use N(1)-acetylspermine and spermidine as substrates, with different affinity depending on the isoform (isozyme) and on the experimental conditions. Plays an important role in the regulation of polyamine intracellular concentration and has the potential to act as a determinant of cellular sensitivity to the antitumor polyamine analogs. May contribute to beta-alanine production via aldehyde dehydrogenase conversion of 3-amino-propanal. NM_175839.1 28559074 SMOX 20 20p13 SMOX HGNC:15862 true hsa:54498 HS01609-MONOMER NP_001257620.1:NM_001270691.1;NP_787033.1:NM_175839.2;NP_787034.1:NM_175840.2;NP_787035.1:NM_175841.2;NP_787036.1:NM_175842.2 Widely expressed. Expressed in human tumor cell lines. Isoform 4 is only found in an embryonal kidney cell line. FAD 2020-06-12T23:07:01Z 2020-07-28T02:27:27Z 0 0 0 2033 CDBP02032 Mineralocorticoid receptor P08235 MCR_HUMAN false false Receptor Homo_sapiens NR3C2 984 107066.6 7.42 Involved in sequence-specific DNA binding transcription factor activity Receptor for both mineralocorticoids (MC) such as aldosterone and glucocorticoids (GC) such as corticosterone or cortisol. Binds to mineralocorticoid response elements (MRE) and transactivates target genes. The effect of MC is to increase ion and water transport and thus raise extracellular fluid volume and blood pressure and lower potassium levels ["None"] ["None"] M16801 NR3C2 Chromosome:4 4q31.1 NR3C2 HGNC:7979 true 2020-06-12T23:07:01Z 2020-07-28T02:27:27Z 1 1 1 2034 CDBP02033 Toll-like receptor 4 O00206 TLR4_HUMAN true false Enzyme Homo_sapiens TLR4 839 95679.2 6.26 Involved in protein binding Cooperates with LY96 and CD14 to mediate the innate immune response to bacterial lipopolysaccharide (LPS). Acts via MYD88, TIRAP and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response ["1-23"] ["632-652"] U93091 TLR4 Chromosome:9 9q33.1 TLR4 HGNC:11850 true 2020-06-12T23:07:01Z 2020-07-28T02:27:27Z 1 0 0 2035 CDBP02034 Copper-transporting ATPase 1 Q04656 ATP7A_HUMAN false true Transporter Homo_sapiens ATP7A 1500 163372.275 6.241 Involved in ATP binding May supply copper to copper-requiring proteins within the secretory pathway, when localized in the trans-Golgi network. Under conditions of elevated extracellular copper, it relocalized to the plasma membrane where it functions in the efflux of copper from cells. 1AW0;1KVI;1KVJ;1Q8L;1S6O;1S6U;1Y3J;1Y3K;1YJR;1YJT;1YJU;1YJV;2AW0;2G9O;2GA7;2K1R;2KIJ;2KMV;2KMX;3CJK AL645821 57209396 ATP7A X Xq21.1 ATP7A HGNC:869 true hsa:538 NP_000043.3:NM_000052.5 Found in most tissues except liver. Isoform 3 is widely expressed including in liver cell lines. Isoform 1 is expressed in fibroblasts, choriocarcinoma, colon carcinoma and neuroblastoma cell lines. Isoform 2 is expressed in fibroblasts, colon carcinoma and neuroblastoma cell lines. Monomer 2020-06-12T23:07:01Z 2020-07-28T02:27:27Z 0 1 0 2036 CDBP02035 Bifunctional arginine demethylase and lysyl-hydroxylase JMJD6 Q6NYC1 JMJD6_HUMAN true false Enzyme Homo_sapiens JMJD6 403 46461.6 8.98 Involved in histone demethylase activity (H3-R2 specific) Dioxygenase that can both act as a histone arginine demethylase and a lysyl-hydroxylase. Arginine demethylase which demethylates histone H3 at 'Arg-2' (H3R2me) and histone H4 at 'Arg-3' (H4R3me), thereby playing a central role in histone code. Also acts as a lysyl-hydroxylase that catalyzes 5-hydroxylation on specific lysine residues of target proteins such as U2AF2/U2AF65 and LUC7L2. Acts as a regulator of RNA splicing by mediating 5- hydroxylation of U2AF2/U2AF65, affecting the pre-mRNA splicing activity of U2AF2/U2AF65. Required for differentiation of multiple organs during embryogenesis. Probably acts as a key regulator of hematopoietic differentiation. Seems to be necessary for the regulation of macrophage cytokine responses ["None"] ["None"] NM_015167.2 125988389 JMJD6 Chromosome:1 17q25 JMJD6 HGNC:19355 true 2020-06-12T23:07:01Z 2020-07-28T02:27:27Z 0 0 0 2037 CDBP02036 Mu-type opioid receptor P35372 OPRM_HUMAN false false Receptor Homo_sapiens OPRM1 400 44778.9 8.29 Involved in G-protein coupled receptor protein signaling pathway Inhibits neurotransmitter release by reducing calcium ion currents and increasing potassium ion conductance. Receptor for beta-endorphin ["None"] ["67-96", "106-123", "146-165", "196-211", "237-259", "283-305", "314-330"] NM_000914.3 117940060 OPRM1 Chromosome:6 6q24-q25 OPRM1 HGNC:8156 true 2020-06-12T23:07:01Z 2020-07-28T02:27:27Z 1 0 0 2038 CDBP02037 Zinc finger protein GLI3 P10071 GLI3_HUMAN false false Metal Binding Homo_sapiens GLI3 1580 169861.6 7.41 Involved in zinc ion binding Plays a role in limb and brain development. Implicated in the transduction of SHH signal ["None"] ["None"] 2GLI NM_000168.5 119393899 GLI3 Chromosome:7 7p13 GLI3 HGNC:4319 true 2020-06-12T23:07:01Z 2020-07-28T02:31:58Z 0 1 0 2039 CDBP02038 Anthrax toxin receptor 1 Q9H6X2 ANTR1_HUMAN false false Receptor Homo_sapiens ANTXR1 564 62788.4 7.66 Involved in receptor activity Plays a role in cell attachment and migration. Interacts with extracellular matrix proteins and with the actin cytoskeleton. Mediates adhesion of cells to type 1 collagen and gelatin, reorganization of the actin cytoskeleton and promotes cell spreading. Plays a role in the angiogenic response of cultured umbilical vein endothelial cells ["1-32"] ["322-342"] AF279145 ANTXR1 Chromosome:2 2p13.1 ANTXR1 HGNC:21014 true 2020-06-12T23:07:01Z 2020-07-28T02:27:27Z 1 0 0 2040 CDBP02039 Mannose-binding protein C P11226 MBL2_HUMAN false false Enzyme Homo_sapiens MBL2 248 26143.3 5.14 Involved in binding Calcium-dependent lectin involved in innate immune defense. Binds mannose, fucose and N-acetylglucosamine on different microorganisms and activates the lectin complement pathway. Binds to late apoptotic cells, as well as to apoptotic blebs and to necrotic cells, but not to early apoptotic cells, facilitating their uptake by macrophages. May bind DNA ["1-20"] ["None"] 1HUP X15422 34487 MBL2 Chromosome:1 10q11.2 MBL2 HGNC:6922 true 2020-06-12T23:07:01Z 2020-07-28T02:33:42Z 0 0 0 2041 CDBP02040 Fatty acid desaturase 1 O60427 FADS1_HUMAN true false Enzyme Homo_sapiens FADS1 444 51963.9 9.15 Involved in heme binding Component of a lipid metabolic pathway that catalyzes biosynthesis of highly unsaturated fatty acids (HUFA) from precursor essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3). Catalyzes the desaturation of dihomo-gamma-linoleic acid (DHGLA) (20:3n-6) and eicosatetraenoic acid (20:4n-3) to generate arachidonic acid (AA) (20:4n-6) and eicosapentaenoic acid (EPA)(20:5n-3) respectively ["None"] ["122-142", "146-170", "268-288", "306-326"] AC004770 3169158 FADS1 Chromosome:1 11q12.2-q13.1 FADS1 HGNC:3574 true 2020-06-12T23:07:01Z 2020-07-28T02:27:27Z 0 1 0 2042 CDBP02041 Probable peptidyl-tRNA hydrolase Q86Y79 PTH_HUMAN true false Enzyme Homo_sapiens PTRH1 214 22936.405 10.57 Translation, ribosomal structure and biogenesis BC047012 28422548 PTRH1 9 9q34.11 HGNC:27039 true hsa:138428 NP_001002913.1:NM_001002913.1 2020-06-12T23:07:01Z 2020-06-12T23:07:01Z 0 0 0 2043 CDBP02042 Equilibrative nucleoside transporter 4 Q7RTT9 S29A4_HUMAN false true Transporter Homo_sapiens SLC29A4 530 58058.0 7.76 Involved in nucleoside transmembrane transporter activity Functions as a polyspecific organic cation transporter, efficiently transporting many organic cations such as monoamine neurotransmitters 1-methyl-4-phenylpyridinium and biogenic amines including serotonin, dopamine, norepinephrine and epinephrine. May play a role in regulating central nervous system homeostasis of monoamine neurotransmitters. May be involved in luminal transport of organic cations in the kidney and seems to use luminal proton gradient to drive organic cation reabsorption. Does not seem to transport nucleoside and nucleoside analogs such as uridine, cytidine, thymidine, adenosine, inosine, guanosine, and azidothymidine. In (PubMed:16873718) adenosine is efficiently transported but in a fashion highly sensitive to extracellular pH, with maximal activity in the pH range 5.5 to 6.5. Glu-206 is essential for the cation selectivity and may function as the charge sensor for cationic substrates. Transport is chloride and sodium-independent but appears to be sensitive to changes in membrane potential. Weakly inhibited by the classical inhibitors of equilibrative nucleoside transport, dipyridamole, dilazep, and nitrobenzylthioinosine. May play a role in the regulation of extracellular adenosine concentrations in cardiac tissues, in particular during ischemia ["None"] ["69-89", "102-122", "140-160", "167-187", "232-252", "352-372", "382-402", "417-437", "451-471", "487-509"] NM_001040661.1 100913034 SLC29A4 Chromosome:7 7p22.1 SLC29A4 HGNC:23097 true 2020-06-12T23:07:01Z 2020-07-28T02:32:08Z 0 0 0 2044 CDBP02043 5-hydroxytryptamine receptor 2A P28223 5HT2A_HUMAN false false Receptor Homo_sapiens HTR2A 471 52602.6 7.72 Involved in G-protein coupled receptor protein signaling pathway This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. This receptor is involved in tracheal smooth muscle contraction, bronchoconstriction, and control of aldosterone production ["None"] ["76-99", "111-132", "148-171", "192-215", "234-254", "325-346", "363-384"] X57830 36431 HTR2A Chromosome:1 13q14-q21 HTR2A HGNC:5293 true 2020-06-12T23:07:01Z 2020-07-28T02:27:27Z 1 0 0 2045 CDBP02044 Perilipin-1 O60240 PLIN1_HUMAN false false Enzyme Homo_sapiens PLIN1 522 55989.8 6.37 Involved in lipid binding Modulator of adipocyte lipid metabolism. Coats lipid storage droplets to protect them from breakdown by hormone- sensitive lipase (HSL). Its absence may result in leanness ["None"] ["None"] AB005293 3041771 PLIN1 Chromosome:1 15q26 PLIN1 HGNC:9076 true 2020-06-12T23:07:01Z 2020-07-28T02:33:42Z 0 0 0 2046 CDBP02045 Pulmonary surfactant-associated protein A2 Q8IWL1 SFPA2_HUMAN false false Enzyme Homo_sapiens SFTPA2 248 26182.1 4.82 Involved in sugar binding In presence of calcium ions, it binds to surfactant phospholipids and contributes to lower the surface tension at the air-liquid interface in the alveoli of the mammalian lung and is essential for normal respiration ["1-20"] ["None"] AY206682 27501930 SFTPA2 Chromosome:1 10q22.3 true 2020-06-12T23:07:01Z 2020-07-28T02:33:42Z 0 0 0 2047 CDBP02046 Vascular cell adhesion protein 1 P19320 VCAM1_HUMAN true false Enzyme Homo_sapiens VCAM1 739 81275.4 4.87 Involved in cell-cell adhesion Important in cell-cell recognition. Appears to function in leukocyte-endothelial cell adhesion. Interacts with the beta-1 integrin VLA4 on leukocytes, and mediates both adhesion and signal transduction. The VCAM1/VLA4 interaction may play a pathophysiologic role both in immune responses and in leukocyte emigration to sites of inflammation ["1-24"] ["699-720"] 1VCA NM_001078.2 4507875 VCAM1 Chromosome:1 1p32-p31 VCAM1 HGNC:12663 true 2020-06-12T23:07:01Z 2020-06-12T23:07:01Z 0 0 0 2048 CDBP02047 S-arrestin P10523 ARRS_HUMAN false false Enzyme Homo_sapiens SAG 405 45119.2 6.53 Involved in signal transduction Arrestin is one of the major proteins of the ros (retinal rod outer segments); it binds to photoactivated- phosphorylated rhodopsin, thereby apparently preventing the transducin-mediated activation of phosphodiesterase ["None"] ["None"] AC013726 62822312 SAG Chromosome:2 2q37.1 SAG HGNC:10521 true 2020-06-12T23:07:01Z 2020-07-28T02:33:42Z 0 0 0 2049 CDBP02048 Apoptosis-inducing factor 1, mitochondrial O95831 AIFM1_HUMAN false false Enzyme Homo_sapiens AIFM1 613 66900.1 9.39 Involved in oxidoreductase activity Probable oxidoreductase that acts as a caspase- independent mitochondrial effector of apoptotic cell death. Extramitochondrial AIF induces nuclear chromatin condensation and large scale DNA fragmentation (in vitro). Binds to DNA in a sequence-independent manner ["None"] ["None"] 1M6I AF100928 AIFM1 AIFM1 HGNC:8768 true 2020-06-12T23:07:01Z 2020-07-28T02:33:42Z 0 0 0 2050 CDBP02049 Epididymal secretory protein E1 P61916 NPC2_HUMAN true false Enzyme Homo_sapiens NPC2 151 16570.1 7.77 Involved in cholesterol binding May be involved in the regulation of the lipid composition of sperm membranes during the maturation in the epididymis ["1-19"] ["None"] BC002532 12803417 NPC2 Chromosome:1 14q24.3 NPC2 HGNC:14537 true 2020-06-12T23:07:01Z 2020-06-12T23:07:01Z 0 0 0 2051 CDBP02050 Vitamin D 25-hydroxylase Q6VVX0 CP2R1_HUMAN true false Enzyme Homo_sapiens CYP2R1 501 57358.82 7.601 Involved in monooxygenase activity Has a D-25-hydroxylase activity on both forms of vitamin D, vitamin D(2) and D(3). 3C6G;3CZH;3DL9 AY323817 33591222 CYP2R1 11 11p15.2 CYP2R1 HGNC:20580 true hsa:120227 HS17721-MONOMER NP_078790.2:NM_024514.4 Heme group Homodimer 2020-06-12T23:07:01Z 2020-07-28T02:27:28Z 0 1 0 2052 CDBP02051 Sphingosine 1-phosphate receptor 1 P21453 S1PR1_HUMAN true false Enzyme Homo_sapiens S1PR1 382 42810.2 9.91 Involved in G-protein coupled receptor protein signaling pathway Receptor for the lysosphingolipid sphingosine 1- phosphate (S1P). S1P is a bioactive lysophospholipid that elicits diverse physiological effect on most types of cells and tissues. This inducible epithelial cell G-protein-coupled receptor may be involved in the processes that regulate the differentiation of endothelial cells. Seems to be coupled to the G(i) subclass of heteromeric G proteins ["None"] ["47-71", "79-107", "122-140", "160-185", "202-222", "256-277", "294-314"] NM_001400.4 13027636 S1PR1 Chromosome:1 1p21 S1PR1 HGNC:3165 true 2020-06-12T23:07:01Z 2020-07-28T02:27:28Z 1 0 0 2053 CDBP02052 Alpha-methylacyl-CoA racemase Q9UHK6 AMACR_HUMAN true false Enzyme Homo_sapiens AMACR 382 43859.945 6.8 Involved in catalytic activity Racemization of 2-methyl-branched fatty acid CoA esters. Responsible for the conversion of pristanoyl-CoA and C27-bile acyl-CoAs to their (S)-stereoisomers. AF047020 4204097 AMACR 5 5p13 AMACR HGNC:451 true hsa:23600 NP_001161067.1:NM_001167595.1;NP_055139.4:NM_014324.5;NP_976316.1:NM_203382.2 2020-06-12T23:07:01Z 2020-06-12T23:07:01Z 0 0 0 2054 CDBP02053 Solute carrier organic anion transporter family member 1A2 P46721 SO1A2_HUMAN false true Transporter Homo_sapiens SLCO1A2 670 74144.1 5.75 Involved in transporter activity Mediates the Na(+)-independent transport of organic anions such as sulfobromophthalein (BSP) and conjugated (taurocholate) and unconjugated (cholate) bile acids ["None"] ["21-37", "86-106", "156-176", "194-214", "246-266", "316-336", "356-376", "390-410", "461-481", "513-533", "557-577", "603-623"] U21943 SLCO1A2 Chromosome:1 12p12 SLCO1A2 HGNC:10956 true 2020-06-12T23:07:01Z 2020-06-12T23:07:01Z 0 0 0 2055 CDBP02054 Dipeptidase 1 P16444 DPEP1_HUMAN true false Enzyme Homo_sapiens DPEP1 411 45673.5 6.09 Involved in metalloexopeptidase activity Hydrolyzes a wide range of dipeptides. Implicated in the renal metabolism of glutathione and its conjugates. Converts leukotriene D4 to leukotriene E4; it may play an important role in the regulation of leukotriene activity ["1-16"] ["None"] 1ITU J05257 DPEP1 Chromosome:1 16q24.3 DPEP1 HGNC:3002 true 2020-06-12T23:07:01Z 2020-07-28T02:27:28Z 0 0 0 2056 CDBP02055 Follicle-stimulating hormone receptor P23945 FSHR_HUMAN true false Enzyme Homo_sapiens FSHR 695 78294.1 7.19 Involved in G-protein coupled receptor protein signaling pathway Receptor for follicle-stimulating hormone. The activity of this receptor is mediated by G proteins which activate adenylate cyclase ["1-17"] ["367-387", "399-421", "444-465", "486-508", "529-550", "574-597", "609-630"] 1XWD M65085 182771 FSHR Chromosome:2 2p21-p16 FSHR HGNC:3969 true 2020-06-12T23:07:01Z 2020-07-28T02:27:28Z 1 0 0 2057 CDBP02056 Bone morphogenetic protein 7 P18075 BMP7_HUMAN false false Receptor Homo_sapiens BMP7 431 49312.5 7.93 Involved in growth factor activity Induces cartilage and bone formation. May be the osteoinductive factor responsible for the phenomenon of epithelial osteogenesis. Plays a role in calcium regulation and bone homeostasis ["1-29"] ["None"] 1LXI AL122058 56203808 BMP7 Chromosome:2 20q13 BMP7 HGNC:1074 true 2020-06-12T23:07:01Z 2020-07-28T02:32:17Z 1 0 0 2058 CDBP02057 Sodium- and chloride-dependent betaine transporter P48065 S6A12_HUMAN false true Transporter Homo_sapiens SLC6A12 614 69367.655 6.316 Involved in gamma-aminobutyric acid:sodium symporter ac Transports betaine and GABA. May have a role in regulation of GABAergic transmission in the brain through the reuptake of GABA into presynaptic terminals, as well as in osmotic regulation. NM_001122847.1 171184406 SLC6A12 12 12p13 HGNC:11045 true hsa:6539 NP_001116319.1:NM_001122847.2;NP_001116320.1:NM_001122848.2;NP_001193860.1:NM_001206931.1;NP_003035.3:NM_003044.4 Liver, heart, skeletal muscle, placenta, and a widespread distribution in the brain. Interacts with LIN7C 2020-06-12T23:07:01Z 2020-07-28T02:32:08Z 0 0 0 2059 CDBP02058 Agmatinase, mitochondrial Q9BSE5 SPEB_HUMAN true false Enzyme Homo_sapiens AGMAT 352 37660.065 7.597 Involved in agmatinase activity AK027037 10440052 AGMAT 1 1p36.21 AGMAT HGNC:18407 true hsa:79814 NP_079034.3:NM_024758.4 Highly expressed in liver and kidney. Also found in skeletal muscle, fetal liver, brain, testis, skin and the gastrointestinal tract. Manganese 2020-06-12T23:07:01Z 2020-07-28T02:27:28Z 0 1 0 2060 CDBP02059 Collagen alpha-1(XIII) chain Q5TAT6 CODA1_HUMAN true false Enzyme Homo_sapiens COL13A1 717 69949.7 9.82 Translation, ribosomal structure and biogenesis Involved in cell-matrix and cell-cell adhesion interactions that are required for normal development. May participate in the linkage between muscle fiber and basement membrane. May play a role in endochondral ossification of bone and branching morphogenesis of lung. Binds heparin ["None"] ["45-61"] AJ293624 9650749 COL13A1 Chromosome:1 10q22 COL13A1 HGNC:2190 true 2020-06-12T23:07:01Z 2020-06-12T23:07:01Z 0 0 0 2061 CDBP02060 5-hydroxytryptamine receptor 2C P28335 5HT2C_HUMAN false false Receptor Homo_sapiens HTR2C 458 51820.7 9.11 Involved in G-protein coupled receptor protein signaling pathway This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system ["None"] ["53-78", "90-110", "128-150", "171-193", "214-235", "312-333", "349-371"] M81778 HTR2C HTR2C HGNC:5295 true 2020-06-12T23:07:01Z 2020-07-28T02:27:28Z 1 0 0 2062 CDBP02061 Proheparin-binding EGF-like growth factor Q99075 HBEGF_HUMAN true false Enzyme Homo_sapiens HBEGF 208 23066.8 9.85 Involved in epidermal growth factor receptor binding May be involved in macrophage-mediated cellular proliferation. It is mitogenic for fibroblasts and smooth muscle but not endothelial cells. It is able to bind EGF receptors with higher affinity than EGF itself and is a far more potent mitogen for smooth muscle cells than EGF. Also acts as a diphtheria toxin receptor ["1-19"] ["161-184"] 1XDT AC004634 3094994 HBEGF Chromosome:5 5q23 HBEGF HGNC:3059 true 2020-06-12T23:07:01Z 2020-06-12T23:07:01Z 0 0 0 2063 CDBP02062 Fatty acid-binding protein, heart P05413 FABPH_HUMAN true true Enzyme Homo_sapiens FABP3 133 14857.9 6.8 Involved in negative regulation of cell proliferation FABP are thought to play a role in the intracellular transport of long-chain fatty acids and their acyl-CoA esters ["None"] ["None"] 1G5W AK314122 189054293 FABP3 Chromosome:1 1p33-p32 true 2020-06-12T23:07:01Z 2020-07-28T02:27:28Z 0 0 0 2064 CDBP02063 5-hydroxytryptamine receptor 6 P50406 5HT6R_HUMAN true false Enzyme Homo_sapiens HTR6 440 46953.6 9.02 Involved in G-protein coupled receptor protein signaling pathway This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins that stimulate adenylate cyclase. It has a high affinity for tricyclic psychotropic drugs ["None"] ["35-57", "65-85", "101-122", "145-166", "185-208", "266-290", "296-320"] L41147 HTR6 Chromosome:1 1p36-p35 HTR6 HGNC:5301 true 2020-06-12T23:07:01Z 2020-07-28T02:27:28Z 1 0 0 2065 CDBP02064 Histamine H3 receptor Q9Y5N1 HRH3_HUMAN false false Receptor Homo_sapiens HRH3 445 48670.8 9.53 Involved in G-protein coupled receptor protein signaling pathway The H3 subclass of histamine receptors could mediate the histamine signals in CNS and peripheral nervous system. Signals through the inhibition of adenylate cyclase and displays high constitutive activity (spontaneous activity in the absence of agonist). Agonist stimulation of isoform 3 niether modified adenylate cyclase activity nor induced intracellular calcium mobilization ["None"] ["40-60", "71-91", "109-129", "157-177", "197-217", "360-380", "396-416"] NM_007232.2 194018562 HRH3 Chromosome:2 20q13.33 HRH3 HGNC:5184 true 2020-06-12T23:07:01Z 2020-07-28T02:27:28Z 1 0 0 2066 CDBP02065 Extracellular calcium-sensing receptor P41180 CASR_HUMAN false false Receptor Homo_sapiens CASR 1078 120672.4 5.82 Involved in G-protein coupled receptor activity Senses changes in the extracellular concentration of calcium ions. The activity of this receptor is mediated by a G- protein that activates a phosphatidylinositol-calcium second messenger system ["1-19"] ["613-635", "650-670", "682-700", "725-745", "770-792", "806-828", "837-862"] BC104999 85397872 CASR Chromosome:3 3q13 CASR HGNC:1514 true 2020-06-12T23:07:01Z 2020-07-28T02:27:28Z 1 0 0 2067 CDBP02066 Receptor-type tyrosine-protein phosphatase alpha P18433 PTPRA_HUMAN true false Enzyme Homo_sapiens PTPRA 802 90718.405 6.652 Involved in phosphatase activity NM_002836.3 4506303 PTPRA 20 20p13 PTPRA HGNC:9664 true hsa:5786 NP_002827.1:NM_002836.3;NP_543030.1:NM_080840.2;NP_543031.1:NM_080841.2 2020-06-12T23:07:01Z 2020-07-28T02:27:28Z 1 0 0 2068 CDBP02067 Translocator protein P30536 TSPOA_HUMAN false false Enzyme Homo_sapiens TSPO 169 18778.7 9.33 Signal transduction mechanisms Responsible for the manifestation of peripheral-type benzodiazepine recognition sites and is most likely to comprise binding domains for benzodiazepines and isoquinoline carboxamides. May play a role in the transport of porphyrins and heme. Plays a role in the transport of cholesterol across mitochondrial membranes in steroidogenic cells ["None"] ["6-26", "47-67", "80-100", "106-126", "135-155"] M36035 TSPO Chromosome:2 22q13.31 TSPO HGNC:1158 true 2020-06-12T23:07:01Z 2020-07-28T02:33:42Z 0 0 0 2069 CDBP02068 Low-density lipoprotein receptor-related protein 2 P98164 LRP2_HUMAN false false Receptor Homo_sapiens LRP2 4655 521952.8 4.68 Involved in calcium ion binding Acts together with cubilin to mediate HDL endocytosis. May participate in regulation of parathyroid- hormone and para-thyroid-hormone-related protein release ["1-25"] ["4424-4446"] NM_004525.2 126012573 LRP2 Chromosome:2 2q24-q31 LRP2 HGNC:6694 true 2020-06-12T23:07:01Z 2020-07-28T02:27:29Z 1 1 0 2070 CDBP02069 Granzyme B P10144 GRAB_HUMAN true false Enzyme Homo_sapiens GZMB 247 27688.0 10.02 Involved in serine-type endopeptidase activity This enzyme is necessary for target cell lysis in cell- mediated immune responses. It cleaves after Asp. Seems to be linked to an activation cascade of caspases (aspartate-specific cysteine proteases) responsible for apoptosis execution. Cleaves caspase-3, -7, -9 and 10 to give rise to active enzymes mediating apoptosis ["1-18"] ["None"] 1FQ3 M17016 GZMB Chromosome:1 14q11.2 GZMB HGNC:4709 true 2020-06-12T23:07:01Z 2020-06-12T23:07:01Z 0 0 0 2071 CDBP02070 Histidine-rich glycoprotein P04196 HRG_HUMAN false false Enzyme Homo_sapiens HRG 525 59578.0 7.52 Involved in cysteine-type endopeptidase inhibitor activity The physiological function is not yet known. It binds heme, dyes and divalent metal ions. It can inhibit rosette formation and is known to interact with heparin, thrombospondin, and the lysine-binding site of plasminogen. On the basis of its homology with HMW kininogen, the His-rich region of this protein may mediate the contact activation phase of intrinsic blood coagulation cascade ["1-18"] ["None"] AB005803 2280514 HRG Chromosome:3 3q27 HRG HGNC:5181 true 2020-06-12T23:07:01Z 2020-07-28T02:33:42Z 0 0 0 2072 CDBP02071 Protein ALEX P84996 ALEX_HUMAN true false Enzyme Homo_sapiens GNAS 626 67947.1 12.07 May inhibit the adenylyl cyclase-stimulating activity of guanine nucleotide-binding protein G(s) subunit alpha which is produced from the same locus in a different open reading frame ["None"] ["None"] NM_001077490.1 117938768 GNAS Chromosome:2 20q13.3 GNAS HGNC:4392 true 2020-06-12T23:07:01Z 2020-06-12T23:07:01Z 0 0 0 2073 CDBP02072 Xylulose kinase O75191 XYLB_HUMAN true false Enzyme Homo_sapiens XYLB 536 58381.695 5.861 Involved in phosphotransferase activity, alcohol group as acceptor 4BC2;4BC3;4BC4;4BC5 AK314386 189067301 XYLB 3 3p22-p21.3 XYLB HGNC:12839 true hsa:9942 NP_005099.2:NM_005108.3 2020-06-12T23:07:01Z 2020-06-12T23:07:01Z 0 0 0 2074 CDBP02073 Keratinocyte growth factor P21781 FGF7_HUMAN true false Enzyme Homo_sapiens FGF7 194 22509.1 9.51 Involved in growth factor activity Growth factor active on keratinocytes. Possible major paracrine effector of normal epithelial cell proliferation ["1-31"] ["None"] 1QQK M60828 186739 FGF7 Chromosome:1 15q21.2 FGF7 HGNC:3685 true 2020-06-12T23:07:01Z 2020-07-28T02:27:29Z 1 0 0 2075 CDBP02074 Cryptochrome-1 Q16526 CRY1_HUMAN false false Enzyme Homo_sapiens CRY1 586 66394.2 8.08 Involved in DNA photolyase activity Blue light-dependent regulator of the circadian feedback loop. Inhibits CLOCK|NPAS2-ARNTL E box-mediated transcription. Acts, in conjunction with CRY2, in maintaining period length and circadian rhythmicity. Has no photolyase activity. Capable of translocating circadian clock core proteins such as PER proteins to the nucleus. May inhibit CLOCK|NPAS2-ARNTL transcriptional activity through stabilizing the unphosphorylated form of ARNTL ["None"] ["None"] BC030519 22539647 CRY1 Chromosome:1 12q23-q24.1 CRY1 HGNC:2384 true 2020-06-12T23:07:01Z 2020-07-28T02:33:42Z 0 0 0 2076 CDBP02075 Telomerase reverse transcriptase O14746 TERT_HUMAN true false Enzyme Homo_sapiens TERT 1132 120046.48 10.706 Involved in RNA binding Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. Active in progenitor and cancer cells. Inactive, or very low activity, in normal somatic cells. Catalytic component of the teleromerase holoenzyme complex whose main activity is the elongation of telomeres by acting as a reverse transcriptase that adds simple sequence repeats to chromosome ends by copying a template sequence within the RNA component of the enzyme. Catalyzes the RNA-dependent extension of 3'-chromosomal termini with the 6-nucleotide telomeric repeat unit, 5'-TTAGGG-3'. The catalytic cycle involves primer binding, primer extension and release of product once the template boundary has been reached or nascent product translocation followed by further extension. More active on substrates containing 2 or 3 telomeric repeats. Telomerase activity is regulated by a number of factors including telomerase complex-associated proteins, chaperones and polypeptide modifiers. Modulates Wnt signaling. Plays important roles in aging and antiapoptosis. 2BCK NM_198253.2 109633031 TERT 5 5p15.33 TERT HGNC:11730 true hsa:7015 NP_001180305.1:NM_001193376.1;NP_937983.2:NM_198253.2 Expressed at a high level in thymocyte subpopulations, at an intermediate level in tonsil T-lymphocytes, and at a low to undetectable level in peripheral blood T-lymphocytes. Homodimer; dimerization is required to produce a functional complex. Oligomer; can form oligomers in the absence of the telomerase RNA template component (TERC). Catalytic subunit of the telomerase holoenzyme complex composed minimally of TERT and TERC. The telomerase complex is composed of TERT, DKC1, WDR79/TCAB1, NOP10, NHP2, GAR1, TEP1, EST1A, POT1 and a telomerase RNA template component (TERC). The molecular chaperone HSP90/P23 complex is required for correct assembly and stabilization of the active telomerase. Interacts directly with HSP90A and PTGES3. Interacts with HSPA1A; the interaction occurs in the absence of TERC and dissociates once the complex has formed. Interacts with RAN; the interaction promotes nuclear export of TERT. Interacts with XPO1. Interacts with PTPN11; the interaction retains TERT in the nucleus. Interacts with NCL (via RRM1 and C-terminal RRM4/Arg/Gly-rich domains); the interaction is important for nucleolar localization of TERT. Interacts with SMARCA4 (via the bromodomain); the interaction regulates Wnt-mediated signaling. Interacts with MCRS1 (isoform MCRS2); the interaction inhibits in vitro telomerase activity. Interacts with PIF1; the interaction has no effect on the elongation activity of TERT. Interacts with PML; the interaction recruits TERT to PML bodies and inhibits telomerase activity. Interacts with GNL3L 2020-06-12T23:07:01Z 2020-07-28T02:27:29Z 0 1 0 2077 CDBP02076 Hemoglobin subunit gamma-2 P69892 HBG2_HUMAN false false Metal Binding Homo_sapiens HBG2 147 16126.3 7.23 Involved in iron ion binding Gamma chains make up the fetal hemoglobin F, in combination with alpha chains ["None"] ["None"] 1FDH AK290492 158254416 HBG2 Chromosome:1 11p15.5 HBG2 HGNC:4832 true 2020-06-12T23:07:01Z 2020-07-28T02:31:58Z 0 1 0 2078 CDBP02077 Fibroblast growth factor 23 Q9GZV9 FGF23_HUMAN false false Receptor Homo_sapiens FGF23 251 27953.6 9.04 Involved in growth factor activity Regulator of phosphate homeostasis. Inhibits renal tubular phosphate transport by reducing SLC34A1 levels. Upregulates EGR1 expression in the presence of KL. Acts directly on the parathyroid to decrease PTH secretion. Regulator of vitamin-D metabolism. Negatively regulates osteoblast differentiation and matrix mineralization ["1-24"] ["None"] AB037973 10119774 FGF23 Chromosome:1 12p13.3 FGF23 HGNC:3680 true 2020-06-12T23:07:01Z 2020-07-28T02:32:17Z 1 0 0 2079 CDBP02078 Dual specificity mitogen-activated protein kinase kinase 3 P46734 MP2K3_HUMAN true false Enzyme Homo_sapiens MAP2K3 347 39318.1 7.5 Involved in protein kinase activity Dual specificity kinase. Is activated by cytokines and environmental stress in vivo. Catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in the MAP kinase p38 ["None"] ["None"] NM_145109.2 21618349 MAP2K3 Chromosome:1 17q11.2 MAP2K3 HGNC:6843 true 2020-06-12T23:07:01Z 2020-06-12T23:07:01Z 0 0 0 2080 CDBP02079 Myotubularin Q13496 MTM1_HUMAN true false Enzyme Homo_sapiens MTM1 603 69931.09 8.182 Involved in phosphatase activity Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2). Has also been shown to dephosphorylate phosphotyrosine- and phosphoserine-containing peptides. Negatively regulates EGFR degradation through regulation of EGFR trafficking from the late endosome to the lysosome. Plays a role in vacuolar formation and morphology. Regulates desmin intermediate filament assembly and architecture. Plays a role in mitochondrial morphology and positioning. Required for skeletal muscle maintenance but not for myogenesis. NM_000252.2 4557896 MTM1 X Xq28 MTM1 HGNC:7448 true hsa:4534 NP_000243.1:NM_000252.2 Interacts with MTMR12; the interaction modulates MTM1 intracellular localization. Interacts with MLL (via SET domain). Interacts with DES in skeletal muscle but not in cardiac muscle 2020-06-12T23:07:01Z 2020-06-12T23:07:01Z 0 0 0 2081 CDBP02080 Solute carrier family 15 member 1 P46059 S15A1_HUMAN false true Transporter Homo_sapiens SLC15A1 708 78805.3 8.64 Involved in transporter activity Proton-coupled intake of oligopeptides of 2 to 4 amino acids with a preference for dipeptides. May constitute a major route for the absorption of protein digestion end-products ["None"] ["1-21", "54-74", "83-103", "119-139", "162-182", "199-219", "277-297", "328-348", "362-382", "585-605", "620-640", "646-666"] U13173 SLC15A1 Chromosome:1 13q33-q34 SLC15A1 HGNC:10920 true 2020-06-12T23:07:01Z 2020-06-12T23:07:01Z 0 0 0 2082 CDBP02081 Prostacyclin receptor P43119 PI2R_HUMAN true false Enzyme Homo_sapiens PTGIR 386 40955.5 8.53 Involved in G-protein coupled receptor protein signaling pathway Receptor for prostacyclin (prostaglandin I2 or PGI2). The activity of this receptor is mediated by G(s) proteins which activate adenylate cyclase ["None"] ["17-38", "52-76", "95-115", "135-158", "182-208", "236-260", "275-295"] L29016 PTGIR Chromosome:1 19q13.3 PTGIR HGNC:9602 true 2020-06-12T23:07:01Z 2020-07-28T02:27:29Z 1 0 0 2083 CDBP02082 ADM P35318 ADML_HUMAN true false Enzyme Homo_sapiens ADM 185 20420.2 11.45 Involved in hormone activity AM and PAMP are potent hypotensive and vasodilatator agents. Numerous actions have been reported most related to the physiologic control of fluid and electrolyte homeostasis. In the kidney, am is diuretic and natriuretic, and both am and pamp inhibit aldosterone secretion by direct adrenal actions. In pituitary gland, both peptides at physiologically relevant doses inhibit basal ACTH secretion. Both peptides appear to act in brain and pituitary gland to facilitate the loss of plasma volume, actions which complement their hypotensive effects in blood vessels ["1-21"] ["None"] AK312893 189053568 ADM Chromosome:1 11p15.4 ADM HGNC:259 true 2020-06-12T23:07:01Z 2020-07-28T02:27:29Z 1 0 0 2084 CDBP02083 Sodium/myo-inositol cotransporter P53794 SC5A3_HUMAN false true Transporter Homo_sapiens SLC5A3 718 79693.065 7.27 Involved in transporter activity Prevents intracellular accumulation of high concentrations of myo-inositol (an osmolyte) that result in impairment of cellular function. AF027153 2739094 SLC5A3 21 21q22.12 SLC5A3 HGNC:11038 true hsa:6526 NP_008864.3:NM_006933.4 2020-06-12T23:07:01Z 2020-07-28T02:32:08Z 0 0 0 2085 CDBP02084 Prostaglandin D2 receptor Q13258 PD2R_HUMAN false false Receptor Homo_sapiens PTGDR 359 40270.1 9.32 Involved in G-protein coupled receptor protein signaling pathway Receptor for prostaglandin D2 (PGD2). The activity of this receptor is mainly mediated by G(s) proteins that stimulate adenylate cyclase, resulting in an elevation of intracellular cAMP. A mobilization of calcium is also observed, but without formation of inositol 1,4,5-trisphosphate ["None"] ["22-42", "60-80", "108-128", "151-171", "196-216", "263-283", "311-331"] NM_000953.2 28466969 PTGDR Chromosome:1 14q22.1 PTGDR HGNC:9591 true 2020-06-12T23:07:01Z 2020-07-28T02:27:29Z 1 0 0 2086 CDBP02085 Toll-like receptor 9 Q9NR96 TLR9_HUMAN true false Enzyme Homo_sapiens TLR9 1032 115858.7 8.23 Involved in protein binding Key component of innate and adaptive immunity. TLRs (Toll-like receptors) control host immune response against pathogens through recognition of molecular patterns specific of microorganisms. TLR9 is a nucleotide-sensing TLR which is activated by unmethylated cytidine-phosphate-guanosine (CpG) dinucleotides. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response ["1-25"] ["819-839"] AF259262 8099652 TLR9 Chromosome:3 3p21.3 TLR9 HGNC:15633 true 2020-06-12T23:07:01Z 2020-07-28T02:27:29Z 1 0 0 2087 CDBP02086 Rap guanine nucleotide exchange factor 3 O95398 RPGF3_HUMAN false false Enzyme Homo_sapiens RAPGEF3 923 103651.0 7.49 Involved in cAMP-dependent protein kinase regulator activity Guanine nucleotide exchange factor (GEF) for RAP1A and RAP2A small GTPases that is activated by binding cAMP ["None"] ["None"] NM_001098531.2 148747859 RAPGEF3 Chromosome:1 12q13.1 RAPGEF3 HGNC:16629 true 2020-06-12T23:07:01Z 2020-07-28T02:33:43Z 0 0 0 2088 CDBP02087 Tumor necrosis factor receptor superfamily member 11B O00300 TR11B_HUMAN false false Receptor Homo_sapiens TNFRSF11B 401 46039.8 8.42 Involved in protein binding Acts as decoy receptor for RANKL and thereby neutralizes its function in osteoclastogenesis. Inhibits the activation of osteoclasts and promotes osteoclast apoptosis in vitro. Bone homeostasis seems to depend on the local RANKL/OPG ratio. May also play a role in preventing arterial calcification. May act as decoy receptor for TRAIL and protect against apoptosis. TRAIL binding blocks the inhibition of osteoclastogenesis ["1-21"] ["None"] AB002146 3107917 TNFRSF11B Chromosome:8 8q24 TNFRSF11B HGNC:11909 true 2020-06-12T23:07:01Z 2020-07-28T02:27:30Z 1 0 0 2089 CDBP02088 Platelet basic protein P02775 CXCL7_HUMAN false false Receptor Homo_sapiens PPBP 128 13894.0 9.07 Involved in cytokine activity LA-PF4 stimulates DNA synthesis, mitosis, glycolysis, intracellular cAMP accumulation, prostaglandin E2 secretion, and synthesis of hyaluronic acid and sulfated glycosaminoglycan. It also stimulates the formation and secretion of plasminogen activator by human synovial cells. NAP-2 is a ligand for CXCR1 and CXCR2, and NAP-2, NAP-2(73), NAP-2(74), NAP-2(1-66), and most potent NAP-2(1-63) are chemoattractants and activators for neutrophils. TC-1 and TC-2 are antibacterial proteins, in vitro released from activated platelet alpha-granules. CTAP-III(1-81) is more potent than CTAP-III desensitize chemokine-induced neutrophil activation ["1-34"] ["None"] 1F9P M54995 181176 PPBP Chromosome:4 4q12-q13 PPBP HGNC:9240 true 2020-06-12T23:07:01Z 2020-07-28T02:32:17Z 1 0 0 2090 CDBP02089 Sphingosine 1-phosphate receptor 5 Q9H228 S1PR5_HUMAN true false Enzyme Homo_sapiens S1PR5 398 41774.5 9.98 Involved in G-protein coupled receptor protein signaling pathway Receptor for the lysosphingolipid sphingosine 1- phosphate (S1P). S1P is a bioactive lysophospholipid that elicits diverse physiological effect on most types of cells and tissues. Is coupled to both the G(i/0)alpha and G(12) subclass of heteromeric G-proteins. May play a regulatory role in the transformation of radial glial cells into astrocytes and may affect proliferative activity of these cells ["None"] ["41-61", "71-91", "112-132", "152-172", "193-213", "253-273", "288-308"] AF331840 S1PR5 Chromosome:1 19p13.2 S1PR5 HGNC:14299 true 2020-06-12T23:07:01Z 2020-07-28T02:27:30Z 1 0 0 2091 CDBP02090 Niemann-Pick C1-like protein 1 Q9UHC9 NPCL1_HUMAN true false Enzyme Homo_sapiens NPC1L1 1359 148696.5 6.31 Involved in cholesterol transport Play a major role in cholesterol homeostasis. Is critical for the uptake of cholesterol across the plasma membrane of the intestinal enterocyte. Is the direct molecular target of ezetimibe, a drug that inhibits cholesterol absorbtion. Lack of activity leads to multiple lipid transport defects. The protein may have a function in the transport of multiple lipids and their homeostasis, and may play a critical role in regulating lipid metabolism ["1-21"] ["285-305", "352-372", "633-653", "667-687", "697-717", "743-763", "777-797", "847-867", "883-903", "1140-1160", "1169-1189", "1192-1212", "1237-1257"] AF192522 6643036 NPC1L1 Chromosome:7 7p13 NPC1L1 HGNC:7898 true 2020-06-12T23:07:01Z 2020-07-28T02:27:30Z 1 0 0 2092 CDBP02091 Caldesmon Q05682 CALD1_HUMAN false false Enzyme Homo_sapiens CALD1 793 93249.5 5.35 Involved in actin binding Actin- and myosin-binding protein implicated in the regulation of actomyosin interactions in smooth muscle and nonmuscle cells (could act as a bridge between myosin and actin filaments). Stimulates actin binding of tropomyosin which increases the stabilization of actin filament structure. In muscle tissues, inhibits the actomyosin ATPase by binding to F-actin. This inhibition is attenuated by calcium-calmodulin and is potentiated by tropomyosin. Interacts with actin, myosin, two molecules of tropomyosin and with calmodulin. Also play an essential role during cellular mitosis and receptor capping ["None"] ["None"] NM_033138.3 44680105 CALD1 Chromosome:7 7q33 CALD1 HGNC:1441 true 2020-06-12T23:07:01Z 2020-07-28T02:33:43Z 0 0 0 2093 CDBP02092 Progressive ankylosis protein homolog Q9HCJ1 ANKH_HUMAN false true Transporter Homo_sapiens ANKH 492 54240.4 7.97 Involved in phosphate transmembrane transporter activity Regulates intra- and extracellular levels of inorganic pyrophosphate (PPi), probably functioning as PPi transporter ["None"] ["86-106", "132-152", "159-179", "190-210", "327-347", "351-371", "404-426", "430-452"] NM_054027.4 16905507 ANKH Chromosome:5 5p15.1 ANKH HGNC:15492 true 2020-06-12T23:07:01Z 2020-07-28T02:32:08Z 0 0 0 2094 CDBP02093 Ceramide synthase 1 P27544 LASS1_HUMAN true false Enzyme Homo_sapiens CERS1 350 Involved in sphingosine N-acyltransferase activity May be either a bona fide (dihydro)ceramide synthase or a modulator of its activity. When overexpressed in cells is involved in the production of sphingolipids containing mainly one fatty acid donor (N-linked stearoyl- (C18) ceramide) in a fumonisin B1-independent manner (By similarity). NM_021267.3 11641421 LASS1 HGNC:14253 true hsa:10715 NP_067090.1:NM_021267.3;NP_937850.1:NM_198207.2 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2095 CDBP02094 CD209 antigen Q9NNX6 CD209_HUMAN false false Enzyme Homo_sapiens CD209 404 45774.6 5.16 Involved in sugar binding On DCs it is a high affinity receptor for ICAM2 and ICAM3 by binding to mannose-like carbohydrates. May act as a DC rolling receptor that mediates transendothelial migration of DC presursors from blood to tissues by binding endothelial ICAM2. Seems to regulate DC-induced T-cell proliferation by binding to ICAM3 on T-cells in the immunological synapse formed between DC and T-cells ["None"] ["38-58"] 1K9I M98457 CD209 Chromosome:1 19p13 CD209 HGNC:1641 true 2020-06-12T23:07:02Z 2020-07-28T02:33:43Z 0 0 0 2096 CDBP02095 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A P46977 STT3A_HUMAN true false Enzyme Homo_sapiens STT3A 705 80528.83 8.076 Involved in oligosaccharyl transferase activity Catalytic subunit of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). SST3A seems to be involved in complex substrate specificity. STT3A is present in the majority of OST complexes and mediates cotranslational N-glycosylation of most sites on target proteins, while STT3B-containing complexes are required for efficient cotranslational glycosylation and mediate glycosylation of sites that have been skipped by STT3A. AK290040 158261103 STT3A 11 11q23.3 STT3A HGNC:6172 true hsa:3703 NP_689926.1:NM_152713.3 Expressed at high levels in placenta, liver, muscle and pancreas, and at very low levels in brain, lung and kidney. Expressed in skin fibroblasts (at protein level). Component of the oligosaccharyltransferase (OST) complex . OST seems to exist in different forms which contain at least RPN1, RPN2, OST48, DAD1, OSTC, KRTCAP2 and either STT3A or STT3B. OST can form stable complexes with the Sec61 complex or with both the Sec61 and TRAP complexes 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2097 CDBP02096 Antigen-presenting glycoprotein CD1d P15813 CD1D_HUMAN true false Enzyme Homo_sapiens CD1D 335 37717.0 8.28 Involved in immune response Antigen-presenting protein that binds self and non-self glycolipids and presents them to T-cell receptors on natural killer T-cells ["1-19"] ["302-322"] J04142 619800 CD1D Chromosome:1 1q22-q23 CD1D HGNC:1637 true 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2098 CDBP02097 Membrane-bound transcription factor site-1 protease Q14703 MBTP1_HUMAN true false Enzyme Homo_sapiens MBTPS1 1052 117747.7 8.98 Involved in serine-type endopeptidase activity Catalyzes the first step in the proteolytic activation of the sterol regulatory element-binding proteins (SREBPs). Other known substrates are BDNF and ATF6. Cleaves after hydrophobic or small residues, provided that Arg or Lys is in position P4. Cleaves known substrates after Arg-Ser-Val-Leu (SERBP-2), Arg-His- Leu-Leu (ATF6), Arg-Gly-Leu-Thr (BDNF) and its own propeptide after Arg-Arg-Leu-Leu ["1-17"] ["999-1021"] NM_003791.2 4506775 MBTPS1 Chromosome:1 16|16q24 MBTPS1 HGNC:15456 true 2020-06-12T23:07:02Z 2020-07-28T02:27:30Z 0 0 0 2099 CDBP02098 Calsenilin Q9Y2W7 CSEN_HUMAN false false Metal Binding Homo_sapiens KCNIP3 256 29231.0 5.06 Involved in calcium ion binding May play a role in the regulation of PSEN2 proteolytic processing and apoptosis. Together with PSEN2 involved in modulation of beta-amyloid formation ["None"] ["None"] AC009238 62822203 KCNIP3 Chromosome:2 2q21.1 true 2020-06-12T23:07:02Z 2020-07-28T02:31:58Z 0 1 0 2100 CDBP02099 Prostaglandin E2 receptor EP4 subtype P35408 PE2R4_HUMAN true false Enzyme Homo_sapiens PTGER4 488 53118.8 8.91 Involved in G-protein coupled receptor protein signaling pathway Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(s) proteins that stimulate adenylate cyclase. Has a relaxing effect on smooth muscle. May play an important role in regulating renal hemodynamics, intestinal epithelial transport, adrenal aldosterone secretion, and uterine function ["None"] ["20-43", "56-79", "97-115", "136-160", "185-211", "268-295", "313-332"] L28175 PTGER4 Chromosome:5 5p13.1 PTGER4 HGNC:9596 true 2020-06-12T23:07:02Z 2020-07-28T02:27:30Z 1 0 0 2101 CDBP02100 Mitochondrial carnitine/acylcarnitine carrier protein O43772 MCAT_HUMAN true true Enzyme Homo_sapiens SLC25A20 301 32943.46 9.405 Involved in transporter activity Mediates the transport of acylcarnitines of different length across the mitochondrial inner membrane from the cytosol to the mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Y10319 2765075 SLC25A20 3 3p21.31 SLC25A20 HGNC:1421 true hsa:788 NP_000378.1:NM_000387.5 2020-06-12T23:07:02Z 2020-07-28T02:27:30Z 0 0 0 2102 CDBP02101 Glutamate receptor 1 P42261 GRIA1_HUMAN true true Enzyme Homo_sapiens GRIA1 906 101505.2 7.78 Involved in ionotropic glutamate receptor activity Ionotropic glutamate receptor. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L- glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist ["1-18"] ["537-557", "618-638", "806-826"] 1WVJ BC111734 84627519 GRIA1 Chromosome:5 5q33|5q31.1 GRIA1 HGNC:4571 true 2020-06-12T23:07:02Z 2020-07-28T02:27:30Z 1 0 0 2103 CDBP02102 Sialin Q9NRA2 S17A5_HUMAN false false Enzyme Homo_sapiens SLC17A5 495 54639.0 8.36 Involved in transmembrane transport Primary solute translocator for anionic substances; particularly it is a free sialic acid transporter in the lysosomes (Probable) ["None"] ["42-62", "110-130", "137-157", "159-179", "201-221", "228-248", "280-300", "329-349", "366-386", "392-412", "424-444", "458-478"] NM_012434.4 6912666 SLC17A5 Chromosome:6 6q14-q15 SLC17A5 HGNC:10933 true 2020-06-12T23:07:02Z 2020-07-28T02:33:43Z 0 0 0 2104 CDBP02103 Heat shock protein HSP 90-alpha P07900 HS90A_HUMAN true false Enzyme Homo_sapiens HSP90AA1 732 84659.0 4.66 Involved in ATP binding Molecular chaperone. Has ATPase activity ["None"] ["None"] 1UYL X15183 32488 HSP90AA1 Chromosome:1 14q32.33 HSP90AA1 HGNC:5253 true 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2105 CDBP02104 Protein disulfide-isomerase P07237 PDIA1_HUMAN true false Enzyme Homo_sapiens P4HB 508 57115.8 4.49 Involved in isomerase activity This multifunctional protein catalyzes the formation, breakage and rearrangement of disulfide bonds. At the cell surface, seems to act as a reductase that cleaves disulfide bonds of proteins attached to the cell. May therefore cause structural modifications of exofacial proteins. Inside the cell, seems to form/rearrange disulfide bonds of nascent proteins. At high concentrations, functions as a chaperone that inhibits aggregation of misfolded proteins. At low concentrations, facilitates aggregation (anti-chaperone activity). May be involved with other chaperones in the structural modification of the TG precursor in hormone biogenesis. Also acts a structural subunit of various enzymes such as prolyl 4-hydroxylase and microsomal triacylglycerol transfer protein MTTP ["1-17"] ["None"] 1MEK X05130 35655 P4HB Chromosome:1 17q25 P4HB HGNC:8548 true 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2106 CDBP02105 Tumor necrosis factor receptor superfamily member 5 P25942 TNR5_HUMAN true false Enzyme Homo_sapiens CD40 277 30618.8 5.57 Involved in receptor activity Receptor for TNFSF5/CD40LG ["1-20"] ["194-215"] X60592 29851 CD40 Chromosome:2 20q12-q13.2 CD40 HGNC:11919 true 2020-06-12T23:07:02Z 2020-07-28T02:27:30Z 1 0 0 2107 CDBP02106 72 kDa type IV collagenase P08253 MMP2_HUMAN true false Enzyme Homo_sapiens MMP2 660 73881.7 5.09 Involved in metalloendopeptidase activity PEX, the C-terminal non-catalytic fragment of MMP2, posseses anti-angiogenic and anti-tumor properties and inhibits cell migration and cell adhesion to FGF2 and vitronectin. Ligand for integrinv/beta3 on the surface of blood vessels ["1-29"] ["None"] 1GXD AK312711 189053422 MMP2 Chromosome:1 16q13-q21 MMP2 HGNC:7166 true 2020-06-12T23:07:02Z 2020-07-28T02:27:31Z 0 1 0 2108 CDBP02107 Sulfate transporter P50443 S26A2_HUMAN true true Enzyme Homo_sapiens SLC26A2 739 81660.71 8.382 Inorganic ion transport and metabolism Sulfate transporter. May play a role in endochondral bone formation. NM_000112.3 100913030 SLC26A2 5 5q31-q34 HGNC:10994 true hsa:1836 NP_000103.2:NM_000112.3 Ubiquitously expressed. 2020-06-12T23:07:02Z 2020-07-28T02:27:31Z 0 0 0 2109 CDBP02108 Gonadotropin-releasing hormone receptor P30968 GNRHR_HUMAN false false Receptor Homo_sapiens GNRHR 328 37730.4 9.93 Involved in G-protein coupled receptor protein signaling pathway Receptor for gonadotropin releasing hormone (GnRH) that mediates the action of GnRH to stimulate the secretion of the gonadotropic hormones luteinizing hormone (LH) and follicle- stimulating hormone (FSH). This receptor mediates its action by association with G-proteins that activate a phosphatidylinositol- calcium second messenger system. Isoform 2 may act as an inhibitor of GnRH-R signaling ["None"] ["39-58", "78-97", "116-137", "165-184", "213-232", "282-300", "307-326"] L03380 GNRHR Chromosome:4 4q21.2 GNRHR HGNC:4421 true 2020-06-12T23:07:02Z 2020-07-28T02:27:31Z 1 0 0 2110 CDBP02109 Heparanase Q9Y251 HPSE_HUMAN true false Enzyme Homo_sapiens HPSE 543 61148.17 9.278 Involved in hydrolase activity, acting on glycosyl bonds Endoglycosidase that cleaves heparan sulfate proteoglycans (HSPGs) into heparan sulfate side chains and core proteoglycans. Participates in extracellular matrix (ECM) degradation and remodeling. Selectively cleaves the linkage between a glucuronic acid unit and an N-sulfo glucosamine unit carrying either a 3-O-sulfo or a 6-O-sulfo group. Can also cleave the linkage between a glucuronic acid unit and an N-sulfo glucosamine unit carrying a 2-O-sulfo group, but not linkages between a glucuronic acid unit and a 2-O-sulfated iduronic acid moiety. It is essentially inactive at neutral pH but becomes active under acidic conditions such as during tumor invasion and in inflammatory processes. Facilitates cell migration associated with metastasis, wound healing and inflammation. Enhances shedding of syndecans, and increases endothelial invasion and angiogenesis in myelomas. Acts as procoagulant by increasing the generation of activation factor X in the presence of tissue factor and activation factor VII. Increases cell adhesion to the extacellular matrix (ECM), independent of its enzymatic activity. Induces AKT1/PKB phosphorylation via lipid rafts increasing cell mobility and invasion. Heparin increases this AKT1/PKB activation. Regulates osteogenesis. Enhances angiogenesis through up-regulation of SRC-mediated activation of VEGF. Implicated in hair follicle inner root sheath differentiation and hair homeostasis. NM_001098540.1 148746204 HPSE 4 4q21.3 HPSE HGNC:5164 true hsa:10855 ENSG00000173083-MONOMER NP_001092010.1:NM_001098540.2;NP_001159970.1:NM_001166498.2;NP_001186759.1:NM_001199830.1;NP_006656.2:NM_006665.5 Highly expressed in placenta and spleen and weakly expressed in lymph node, thymus, peripheral blood leukocytes, bone marrow, endothelial cells, fetal liver and tumor tissues. Also expressed in hair follicles, specifically in both Henle's and Huxley's layers of inner the root sheath (IRS) at anagen phase. Heterodimer; heterodimer formation between the 8 kDa and the 50 kDa subunits is required for enzyme activity. Interacts with TF; the interaction, inhibited by heparin, enhances the generation of activated factor X and activates coagulation. Interacts with HRG; the interaction is enhanced at acidic pH, partially inhibits binding of HPSE to cell surface receptors and modulates its enzymatic activity. Interacts with SDC1; the interaction enhances the shedding of SDC1. Interacts with HPSE2 2020-06-12T23:07:02Z 2020-07-28T02:27:31Z 0 0 0 2111 CDBP02110 Cytochrome b5 P00167 CYB5_HUMAN false false Metal Binding Homo_sapiens CYB5A 134 15330.0 4.61 Involved in heme binding Cytochrome b5 is a membrane bound hemoprotein which function as an electron carrier for several membrane bound oxygenases ["None"] ["109-131"] 1HKO M22865 CYB5A Chromosome:1 18q23 CYB5A HGNC:2570 true 2020-06-12T23:07:02Z 2020-07-28T02:31:58Z 0 1 0 2112 CDBP02111 Solute carrier family 22 member 16 Q86VW1 S22AG_HUMAN false true Transporter Homo_sapiens SLC22A16 577 64613.6 8.23 Involved in transporter activity High affinity carnitine transporter; the uptake is partially sodium-ion dependent. Thought to mediate the L-carnitine secretion mechanism from testis epididymal epithelium into the lumen which is involved in the maturation of spermatozoa. Also transports organic cations such as tetraethylammonium (TEA) and doxorubicin. The uptake of TEA is inhibited by various organic cations. The uptake of doxorubicin is sodium-independent ["None"] ["23-43", "152-172", "183-203", "214-234", "244-264", "268-288", "359-379", "389-409", "416-436", "441-461", "476-496", "501-521"] NM_033125.2 31542327 SLC22A16 Chromosome:6 6q22.1|6q21-q22.1 SLC22A16 HGNC:20302 true 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2113 CDBP02112 Sodium- and chloride-dependent GABA transporter 1 P30531 SC6A1_HUMAN false true Transporter Homo_sapiens SLC6A1 599 67073.0 8.086 Involved in neurotransmitter:sodium symporter activity Terminates the action of GABA by its high affinity sodium-dependent reuptake into presynaptic terminals. X54673 31658 SLC6A1 3 3p25.3 SLC6A1 HGNC:11042 true hsa:6529 NP_003033.3:NM_003042.3 Interacts with MPP5 2020-06-12T23:07:02Z 2020-07-28T02:32:08Z 0 0 0 2114 CDBP02113 Dual specificity protein phosphatase 2 Q05923 DUS2_HUMAN true false Enzyme Homo_sapiens DUSP2 314 34399.195 7.924 Involved in phosphatase activity Regulates mitogenic signal transduction by dephosphorylating both Thr and Tyr residues on MAP kinases ERK1 and ERK2. 1M3G AC012307 62988835 DUSP2 2 2q11 DUSP2 HGNC:3068 true hsa:1844 NP_004409.1:NM_004418.3 Expressed in hematopoietic tissues. 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2115 CDBP02114 Sodium/hydrogen exchanger 3 P48764 SL9A3_HUMAN false true Transporter Homo_sapiens SLC9A3 834 92853.7 7.51 Involved in solute:hydrogen antiporter activity Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction ["None"] ["80-99", "113-133", "140-160", "181-202", "211-232", "253-274", "291-309", "341-362", "370-390", "436-456"] NM_004174.2 194239733 SLC9A3 Chromosome:5 5p15.3 SLC9A3 HGNC:11073 true 2020-06-12T23:07:02Z 2020-07-28T02:32:08Z 0 0 0 2116 CDBP02115 Asialoglycoprotein receptor 2 P07307 ASGR2_HUMAN false false Receptor Homo_sapiens ASGR2 311 35092.0 6.22 Involved in sugar binding Mediates the endocytosis of plasma glycoproteins to which the terminal sialic acid residue on their complex carbohydrate moieties has been removed. The receptor recognizes terminal galactose and N-acetylgalactosamine units. After ligand binding to the receptor, the resulting complex is internalized and transported to a sorting organelle, where receptor and ligand are disassociated. The receptor then returns to the cell membrane surface ["None"] ["59-79"] M11025 179081 ASGR2 Chromosome:1 17p ASGR2 HGNC:743 true 2020-06-12T23:07:02Z 2020-07-28T02:27:31Z 1 0 0 2117 CDBP02116 Histamine H1 receptor P35367 HRH1_HUMAN true false Enzyme Homo_sapiens HRH1 487 55783.6 9.58 Involved in G-protein coupled receptor protein signaling pathway In peripheral tissues, the H1 subclass of histamine receptors mediates the contraction of smooth muscles, increase in capillary permeability due to contraction of terminal venules, and catecholamine release from adrenal medulla, as well as mediating neurotransmission in the central nervous system ["None"] ["30-49", "64-83", "102-123", "146-165", "190-210", "419-438", "451-470"] AB041380 7592950 HRH1 Chromosome:3 3p25 HRH1 HGNC:5182 true 2020-06-12T23:07:02Z 2020-07-28T02:27:31Z 1 0 0 2118 CDBP02117 Vasodilator-stimulated phosphoprotein P50552 VASP_HUMAN false false Enzyme Homo_sapiens VASP 380 39829.5 9.41 Cell cycle control, cell division, chromosome partitioning Ena/VASP proteins are actin-associated proteins involved in a range of processes dependent on cytoskeleton remodeling and cell polarity such as axon guidance, lamellipodial and filopodial dynamics, platelet activation and cell migration. VASP promotes actin filament elongation. It protects the barbed end of growing actin filaments against capping and increases the rate of actin polymerization in the presence of capping protein. VASP stimulates actin filament elongation by promoting the transfer of profilin- bound actin monomers onto the barbed end of growing actin filaments. Plays a role in actin-based mobility of Listeria monocytogenes in host cells. Regulates actin dynamics in platelets and plays an important role in regulating platelet aggregation ["None"] ["None"] 1EGX AK314812 189054561 VASP Chromosome:1 19q13.2-q13.3 VASP HGNC:12652 true 2020-06-12T23:07:02Z 2020-07-28T02:33:43Z 0 0 0 2119 CDBP02118 G-protein coupled receptor 109A Q8TDS4 G109A_HUMAN true false Enzyme Homo_sapiens GPR109A 363 41849.1 9.37 Involved in G-protein coupled receptor protein signaling pathway Acts as a high affinity receptor for both nicotinic acid (also known as niacin) and (D)-beta-hydroxybutyrate and mediates increased adiponectin secretion and decreased lipolysis through G(i)-protein-mediated inhibition of adenylyl cyclase. This pharmacological effect requires nicotinic acid doses that are much higher than those provided by a normal diet. Mediates nicotinic acid-induced apoptosis in mature neutrophils. Receptor activation by nicotinic acid results in reduced cAMP levels which may affect activity of cAMP-dependent protein kinase A and phosphorylation of target proteins, leading to neutrophil apoptosis. The rank order of potency for the displacement of nicotinic acid binding is 5- methyl pyrazole-3-carboxylic acid = pyridine-3-acetic acid > acifran > 5-methyl nicotinic acid = acipimox >> nicotinuric acid = nicotinamide ["None"] ["34-54", "64-84", "103-123", "143-163", "193-213", "230-250", "274-294"] AY148884 GPR109A Chromosome:1 12q24.31 GPR109A HGNC:24827 true 2020-06-12T23:07:02Z 2020-07-28T02:27:31Z 1 0 0 2120 CDBP02119 Oxysterol-binding protein 1 P22059 OSBP1_HUMAN true false Enzyme Homo_sapiens OSBP 807 89419.9 7.31 Involved in steroid metabolic process Binds cholesterol and a range of oxysterols. Cholesterol binding promotes the formation of a complex with PP2A and a tyrosine phosphatase which dephosphorylate ERK1/2, whereas 25- hydroxycholesterol causes its disassembly. Regulates cholesterol efflux by decreasing ABCA1 stability ["None"] ["None"] AF185696 10441380 OSBP Chromosome:1 11q12-q13 OSBP HGNC:8503 true 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2121 CDBP02120 Interferon beta precursor P01574 IFNB_HUMAN true false Enzyme Homo_sapiens IFNB1 187 22294.0 8.91 Has antiviral, antibacterial and anticancer activities ["1-21"] 1AU1 V00534 32638 IFNB1 Chromosome:9 9p21 IFNB1 HGNC:5434 true 2020-06-12T23:07:02Z 2020-07-28T02:27:31Z 1 0 0 2122 CDBP02121 DNA-3-methyladenine glycosylase P29372 3MG_HUMAN true false Enzyme Homo_sapiens MPG 298 32868.4 10.0 Involved in catalytic activity Hydrolysis of the deoxyribose N-glycosidic bond to excise 3-methyladenine, and 7-methylguanine from the damaged DNA polymer formed by alkylation lesions ["None"] ["None"] 1F6O NM_002434.2 62632769 MPG Chromosome:1 16p13.3 MPG HGNC:7211 true 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2123 CDBP02122 Glycodelin P09466 PAEP_HUMAN true true Enzyme Homo_sapiens PAEP 180 20624.0 5.26 Involved in transport This protein is, quantitatively, the main protein synthesized and secreted in the endometrium from mid-luteal phase of the menstrual cycle and during the first semester of pregnancy ["1-18"] ["None"] AL050169 4884164 PAEP Chromosome:9 9q34 PAEP HGNC:8573 true 2020-06-12T23:07:02Z 2020-07-28T02:27:31Z 0 0 0 2124 CDBP02123 Myosin regulatory light chain 12A P19105 ML12A_HUMAN false false Metal Binding Homo_sapiens MYL12A 171 19794.0 4.4 Involved in calcium ion binding Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Implicated in cytokinesis, receptor capping, and cell locomotion ["None"] ["None"] BC016372 16741043 MYL12A Chromosome:1 18p11.31 true 2020-06-12T23:07:02Z 2020-07-28T02:31:58Z 0 1 0 2125 CDBP02124 Parvalbumin alpha P20472 PRVA_HUMAN false false Metal Binding Homo_sapiens PVALB 110 12058.6 4.78 Involved in calcium ion binding In muscle, parvalbumin is thought to be involved in relaxation after contraction. It binds two calcium ions ["None"] ["None"] 1RK9 AK311832 189053152 PVALB Chromosome:2 22q12-q13.1|22q13.1 PVALB HGNC:9704 true 2020-06-12T23:07:02Z 2020-07-28T02:31:58Z 0 1 0 2126 CDBP02125 Lysophosphatidic acid receptor 2 Q9HBW0 LPAR2_HUMAN true false Enzyme Homo_sapiens LPAR2 351 39083.8 9.42 Involved in G-protein coupled receptor protein signaling pathway Receptor for lysophosphatidic acid (LPA), a mediator of diverse cellular activities. Seems to be coupled to the G(i)/G(o), G(12)/G(13), and G(q) families of heteromeric G proteins. Plays a key role in phospholipase C-beta (PLC-beta) signaling pathway. Stimulates phospholipase C (PLC) activity in a manner that is independent of RALA activation ["None"] ["34-54", "70-90", "104-126", "147-167", "189-209", "243-263", "280-297"] AC002306 2213635 LPAR2 Chromosome:1 19p12 LPAR2 HGNC:3168 true 2020-06-12T23:07:02Z 2020-07-28T02:27:32Z 1 0 0 2127 CDBP02126 Inositol 1,4,5-trisphosphate receptor type 1 Q14643 ITPR1_HUMAN false true Receptor Homo_sapiens ITPR1 2758 313942.4 5.91 Involved in calcium channel activity Intracellular channel that mediates calcium release from the endoplasmic reticulum following stimulation by inositol 1,4,5- trisphosphate ["None"] ["2283-2303", "2315-2335", "2362-2382", "2406-2426", "2449-2469", "2578-2598"] 1N4K 269954692 ITPR1 Chromosome:3 3p26.1 ITPR1 HGNC:6180 true 2020-06-12T23:07:02Z 2020-07-28T02:27:32Z 1 0 0 2128 CDBP02127 Lysophosphatidic acid receptor 1 Q92633 LPAR1_HUMAN true false Enzyme Homo_sapiens LPAR1 364 41109.0 8.6 Involved in lysosphingolipid and lysophosphatidic acid Receptor for lysophosphatidic acid (LPA), a mediator of diverse cellular activities. Seems to be coupled to the G(i)/G(o), G(12)/G(13), and G(q) families of heteromeric G proteins. Stimulates phospholipase C (PLC) activity in a manner that is dependent on RALA activation ["None"] ["51-75", "83-111", "126-144", "164-189", "206-226", "259-280", "295-315"] AY322546 32482013 LPAR1 Chromosome:9 9q31.3 true 2020-06-12T23:07:02Z 2020-07-28T02:27:32Z 1 0 0 2129 CDBP02128 Cholinephosphotransferase 1 Q8WUD6 CHPT1_HUMAN true false Enzyme Homo_sapiens CHPT1 406 45096.535 6.92 Involved in phosphotransferase activity, for other substituted phosphate groups Catalyzes phosphatidylcholine biosynthesis from CDP-choline. It thereby plays a central role in the formation and maintenance of vesicular membranes. NM_020244.2 50726996 CHPT1 12 12q CHPT1 HGNC:17852 true hsa:56994 NP_064629.2:NM_020244.2 Highly expressed in testis, colon, small intestine, heart, prostate and spleen. Also detected in kidney, skeletal muscle, pancreas, leukocytes, ovary and thymus. Weakly expressed in the brain, placenta and lung. Overexpressed in cancerous breast epithelial cell lines. Magnesium or manganese 2020-06-12T23:07:02Z 2020-07-28T02:27:32Z 0 1 0 2130 CDBP02129 Rho-related GTP-binding protein Rho6 Q92730 RND1_HUMAN false false Enzyme Homo_sapiens RND1 232 26055.8 8.03 Involved in GTP binding Lacks intrinsic GTPase activity. Has a low affinity for GDP, and constitutively binds GTP. Controls rearrangements of the actin cytoskeleton. Induces the Rac-dependent neuritic process formation in part by disruption of the cortical actin filaments. Causes the formation of many neuritic processes from the cell body with disruption of the cortical actin filaments ["None"] ["None"] Y07923 1546902 RND1 Chromosome:1 12q12 RND1 HGNC:18314 true 2020-06-12T23:07:02Z 2020-07-28T02:33:43Z 0 0 0 2131 CDBP02130 Sodium/iodide cotransporter Q92911 SC5A5_HUMAN false true Transporter Homo_sapiens SLC5A5 643 68665.63 7.383 Involved in transporter activity Mediates iodide uptake in the thyroid gland. U66088 SLC5A5 19 19p13.11 SLC5A5 HGNC:11040 true hsa:6528 NP_000444.1:NM_000453.2 Expression is primarily in thyroid tissue, but also to a lower extent in mammary gland and ovary. Expression is reduced in tumors. 2020-06-12T23:07:02Z 2020-07-28T02:32:08Z 0 0 0 2132 CDBP02131 17-beta-hydroxysteroid dehydrogenase type 6 O14756 H17B6_HUMAN true false Enzyme Homo_sapiens HSD17B6 317 35965.41 8.728 Involved in oxidoreductase activity NAD-dependent oxidoreductase with broad substrate specificity that shows both oxidative and reductive activity (in vitro). Has 17-beta-hydroxysteroid dehydrogenase activity towards various steroids (in vitro). Converts 5-alpha-androstan-3-alpha,17-beta-diol to androsterone and estradiol to estrone (in vitro). Has 3-alpha-hydroxysteroid dehydrogenase activity towards androsterone (in vitro). Has retinol dehydrogenase activity towards all-trans-retinol (in vitro). Can convert androsterone to epi-androsterone. Androsterone is first oxidized to 5-alpha-androstane-3,17-dione and then reduced to epi-andosterone. Can act on both C-19 and C-21 3-alpha-hydroxysteroids. AF016509 2338748 HSD17B6 12 12q13 HSD17B6 HGNC:23316 true hsa:8630 NP_003716.2:NM_003725.2 Detected in liver and prostate (at protein level). Detected in adult liver, lung, brain, placenta, prostate, adrenal gland, testis, mammary gland, spleen, spinal cord and uterus. Detected in caudate nucleus, and at lower levels in amygdala, corpus callosum, hippocampus, substantia nigra and thalamus. Detected in fetal lung, liver and brain. 2020-06-12T23:07:02Z 2020-07-28T02:27:32Z 0 0 0 2133 CDBP02132 Long-chain fatty acid transport protein 6 Q9Y2P4 S27A6_HUMAN true false Enzyme Homo_sapiens SLC27A6 619 70111.0 8.66 Involved in catalytic activity Involved in translocation of long-chain fatty acids (LFCA) across the plasma membrane. Thought to function as the predominant fatty acid protein transporter in heart ["None"] ["22-42", "119-139"] AF064254 4768275 SLC27A6 Chromosome:5 5q23.3 SLC27A6 HGNC:11000 true 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2134 CDBP02133 Pterin-4-alpha-carbinolamine dehydratase P61457 PHS_HUMAN true false Enzyme Homo_sapiens PCBD1 104 11999.515 6.793 Involved in 4-alpha-hydroxytetrahydrobiopterin dehydratase activity Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2. Coactivator for HNF1A-dependent transcription. Regulates the dimerization of homeodomain protein HNF1A and enhances its transcriptional activity. AF082858 4587464 PCBD1 10 10q22 PCBD1 HGNC:8646 true hsa:5092 HS09360-MONOMER NP_000272.1:NM_000281.2 Homotetramer and homodimer. Heterotetramer with HNF1A; formed by a dimer of dimers 2020-06-12T23:07:02Z 2020-07-28T02:27:32Z 0 0 1 2135 CDBP02134 Sodium- and chloride-dependent creatine transporter 1 P48029 SC6A8_HUMAN false true Transporter Homo_sapiens SLC6A8 635 69483.91 6.42 Involved in neurotransmitter:sodium symporter activity Required for the uptake of creatine in muscles and brain. BC012355 15214460 SLC6A8 X Xq28 SLC6A8 HGNC:11055 true hsa:6535 NP_001136277.1:NM_001142805.1;NP_001136278.1:NM_001142806.1;NP_005620.1:NM_005629.3 Predominantly expressed in skeletal muscle and kidney. Also found in brain, heart, colon, testis and prostate. 2020-06-12T23:07:02Z 2020-07-28T02:32:09Z 0 0 0 2136 CDBP02135 Solute carrier family 12 member 2 P55011 S12A2_HUMAN false true Transporter Homo_sapiens SLC12A2 1212 131445.8 6.36 Involved in transport Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume ["None"] ["93-113", "286-306", "310-330", "367-387", "411-431", "436-456", "487-507", "521-541", "592-612", "658-678", "679-699", "725-745"] U30246 SLC12A2 Chromosome:5 5q23.3 SLC12A2 HGNC:10911 true 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2137 CDBP02136 Aquaporin-2 P41181 AQP2_HUMAN true true Enzyme Homo_sapiens AQP2 271 28837.2 6.95 Involved in transporter activity Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient ["None"] ["17-34", "41-59", "86-107", "128-148", "157-176", "203-224"] S73196 685001 AQP2 Chromosome:1 12q12-q13 AQP2 HGNC:634 true 2020-06-12T23:07:02Z 2020-07-28T02:27:32Z 0 0 0 2138 CDBP02137 N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase, isoform B Q06430 GNT2B_HUMAN true false Enzyme Homo_sapiens GCNT2 400 45854.405 8.215 Involved in acetylglucosaminyltransferase activity Branching enzyme that converts linear into branched poly-N-acetyllactosaminoglycans. Introduces the blood group I antigen during embryonic development. It is closely associated with the development and maturation of erythroid cells. The expression of the blood group I antigen in erythrocytes is determined by isoform C. AF458025 21667009 GCNT2 6 6p24.2 GCNT2 HGNC:4204 true hsa:2651 NP_001482.1:NM_001491.2 In the adult, highly expressed in prostate and to a lesser extent in small intestine and colon. Barely detected in heart, brain, kidney and pancreas. No expression in placenta, lung, liver, skeletal muscle, spleen, thymus, testis, ovary and peripheral blood leukocytes. In fetus, highly expressed in brain and to a lesser extent in lung and kidney. Barely detected in liver. 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2139 CDBP02138 Thyroxine-binding globulin P05543 THBG_HUMAN true false Enzyme Homo_sapiens SERPINA7 415 46324.1 6.27 Involved in serine-type endopeptidase inhibitor activity Major thyroid hormone transport protein in serum ["1-20"] ["None"] BC020747 18089129 SERPINA7 SERPINA7 HGNC:11583 true 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2140 CDBP02139 Sodium- and chloride-dependent taurine transporter P31641 SC6A6_HUMAN false true Transporter Homo_sapiens SLC6A6 620 69829.405 7.393 Involved in neurotransmitter:sodium symporter activity Required for the uptake of taurine. Transports both taurine and beta-alanine which requires sodium ions. Chloride ions are necessary for optimal uptake. NM_001134367.1 197276623 SLC6A6 3 3p25.1 SLC6A6 HGNC:11052 true hsa:6533 NP_001127839.1:NM_001134367.1;NP_001127840.1:NM_001134368.1;NP_003034.2:NM_003043.3 Expressed abundantly in placenta and skeletal muscle, at intermediate levels in heart, brain, lung, kidney and pancreas and at low levels in liver. 2020-06-12T23:07:02Z 2020-07-28T02:32:09Z 0 0 0 2141 CDBP02140 Fatty-acid amide hydrolase 1 O00519 FAAH1_HUMAN true false Enzyme Homo_sapiens FAAH 579 63065.28 7.665 Involved in carbon-nitrogen ligase activity, with glutamine as amido-N-donor Degrades bioactive fatty acid amides like oleamide, the endogenous cannabinoid, anandamide and myristic amide to their corresponding acids, thereby serving to terminate the signaling functions of these molecules. Hydrolyzes polyunsaturated substrate anandamide preferentially as compared to monounsaturated substrates. AF098019 4249693 FAAH 1 1p35-p34 FAAH HGNC:3553 true hsa:2166 HS04139-MONOMER NP_001432.2:NM_001441.2 Highly expressed in the brain, small intestine, pancreas, skeletal muscle and testis. Also expressed in the kidney, liver, lung, placenta and prostate. Homodimer 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2142 CDBP02141 Cadherin-1 P12830 CADH1_HUMAN false false Metal Binding Homo_sapiens CDH1 882 97455.3 4.33 Involved in calcium ion binding E-Cad/CTF2 promotes non-amyloidogenic degradation of Abeta precursors. Has a strong inhibitory effect on APP C99 and C83 production ["1-22"] ["710-730"] NM_004360.3 4757960 CDH1 Chromosome:1 16q22.1 CDH1 HGNC:1748 true 2020-06-12T23:07:02Z 2020-07-28T02:31:58Z 0 1 0 2143 CDBP02142 Gephyrin Q9NQX3 GEPH_HUMAN false false Metal Binding Homo_sapiens GPHN 736 79747.635 5.431 Involved in Mo-molybdopterin cofactor biosynthetic process Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules (By similarity). Catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released. 1JLJ AF272663 GPHN 14 14q23.3 GPHN HGNC:15465 true hsa:10243 ENSG00000171723-MONOMER NP_001019389.1:NM_001024218.1;NP_065857.1:NM_020806.4 Magnesium Homotrimer. Interacts with GABARAP . Interacts with SRGAP2 (via SH3 domain) (By similarity) 2020-06-12T23:07:02Z 2020-07-28T02:31:58Z 0 1 0 2144 CDBP02143 Transient receptor potential cation channel subfamily V member 4 Q9HBA0 TRPV4_HUMAN false true Receptor Homo_sapiens TRPV4 871 98280.2 7.84 Involved in ion channel activity Non-selective calcium permeant cation channel probably involved in osmotic sensitivity and mechanosensitivity. Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification. Also activated by low pH, citrate and phorbol esters. Increase of intracellular Ca(2+) potentiates currents. Channel activity seems to be regulated by a calmodulin-dependent mechanism with a negative feedback mechanism. Promotes cell-cell junction formation in skin keratinocytes and plays an important role in the formation and/or maintenance of functional intercellular barriers. Acts as a regulator of intracellular Ca(2+) in synoviocytes. Plays an obligatory role as a molecular component in the nonselective cation channel activation induced by 4-alpha-phorbol 12,13-didecanoate and hypotonic stimulation in synoviocytes and also regulates production of IL-8 ["None"] ["466-486", "509-529", "551-571", "573-593", "617-637", "691-711"] AB032427 15822825 TRPV4 Chromosome:1 12q24.1 TRPV4 HGNC:18083 true 2020-06-12T23:07:02Z 2020-07-28T02:27:33Z 1 0 0 2145 CDBP02144 ADAMTS-like protein 1 Q8N6G6 ATL1_HUMAN true false Enzyme Homo_sapiens ADAMTSL1 1762 193407.5 7.81 Involved in metallopeptidase activity ["1-28"] ["None"] NM_001040272.4 154275767 ADAMTSL1 Chromosome:9 9p21.3 ADAMTSL1 HGNC:14632 true 2020-06-12T23:07:02Z 2020-07-28T02:27:33Z 0 1 0 2146 CDBP02145 Thyroid hormone receptor beta P10828 THB_HUMAN true false Enzyme Homo_sapiens THRB 461 52787.2 7.11 Involved in sequence-specific DNA binding transcription factor activity High affinity receptor for triiodothyronine ["None"] ["None"] 1Y0X AK096628 193788447 THRB Chromosome:3 3p24.2 THRB HGNC:11799 true 2020-06-12T23:07:02Z 2020-07-28T02:27:33Z 1 1 1 2147 CDBP02146 Zinc finger protein 148 Q9UQR1 ZN148_HUMAN false false Metal Binding Homo_sapiens ZNF148 794 88975.6 6.46 Involved in zinc ion binding Involved in transcriptional regulation. Represses the transcription of a number of genes including gastrin, stromelysin and enolase. Binds to the G-rich box in the enhancer region of these genes ["None"] ["None"] AF039019 2828110 ZNF148 Chromosome:3 3q21 ZNF148 HGNC:12933 true 2020-06-12T23:07:02Z 2020-07-28T02:31:58Z 0 1 0 2148 CDBP02147 Frataxin, mitochondrial Q16595 FRDA_HUMAN false false Enzyme Homo_sapiens FXN 210 23134.895 8.687 Involved in cellular iron ion homeostasis Promotes the biosynthesis of heme and assembly and repair of iron-sulfur clusters by delivering Fe(2+) to proteins involved in these pathways. May play a role in the protection against iron-catalyzed oxidative stress through its ability to catalyze the oxidation of Fe(2+) to Fe(3+); the oligomeric form but not the monomeric form has in vitro ferroxidase activity. May be able to store large amounts of iron in the form of a ferrihydrite mineral by oligomerization; however, the physiological relevance is unsure as reports are conflicting and the function has only been shown using heterologous overexpression systems. Modulates the RNA-binding activity of ACO1. 1EKG;1LY7;3S4M;3S5D;3S5E;3S5F;3T3J;3T3K;3T3L;3T3T;3T3X NM_000144.4 31077081 FXN 9 9q21.11 FXN HGNC:3951 true hsa:2395 NP_000135.2:NM_000144.4;NP_001155178.1:NM_001161706.1;NP_852090.1:NM_181425.2 Expressed in the heart, peripheral blood lymphocytes and dermal fibroblasts. Monomer (probable predominant form). Oligomer. Monomers and polymeric aggregates of >1 MDa have been isolated from mitochondria. A small fraction of heterologous overexpressed recombinant frataxin forms high-molecular wight aggregates that incoroprate iron. Interacts with LYRM4 AND HSPA9. Interacts with ACO1. Interacts with ISCU isoform 1 and isoform 2. Interacts with FECH; one iron-bound FXN monomer seems to interact with a FECH homodimer. Interacts with SDHA and SDHB. Interacts with ACO2; the interaction is dependent on citrate 2020-06-12T23:07:02Z 2020-07-28T02:33:43Z 0 0 0 2149 CDBP02148 Sodium/glucose cotransporter 1 P13866 SC5A1_HUMAN false true Transporter Homo_sapiens SLC5A1 664 73497.275 7.685 Involved in transporter activity Actively transports glucose into cells by Na(+) cotransport with a Na(+) to glucose coupling ratio of 2:1. Efficient substrate transport in mammalian kidney is provided by the concerted action of a low affinity high capacity and a high affinity low capacity Na(+)/glucose cotransporter arranged in series along kidney proximal tubules. AK312948 189066539 SLC5A1 22 22q12.3 SLC5A1 HGNC:11036 true hsa:6523 NP_000334.1:NM_000343.3;NP_001243243.1:NM_001256314.1 Expressed mainly in intestine and kidney. 2020-06-12T23:07:02Z 2020-07-28T02:32:09Z 0 0 0 2150 CDBP02149 MAP kinase-activated protein kinase 2 P49137 MAPK2_HUMAN true false Enzyme Homo_sapiens MAPKAPK2 400 45567.4 8.92 Involved in protein kinase activity Its physiological substrate seems to be the small heat shock protein (HSP27/HSP25). In vitro can phosphorylate glycogen synthase at 'Ser-7' and tyrosine hydroxylase (on 'Ser-19' and 'Ser-40'). This kinase phosphorylates Ser in the peptide sequence, Hyd-X-R-X(2)-S, where Hyd is a large hydrophobic residue. Mediates both ERK and p38 MAPK/MAPK14 dependent neutrophil responses. Participates in TNF alpha-stimulated exocytosis of secretory vesicles in neutrophils. Plays a role in phagocytosis-induced respiratory burst activity ["None"] ["None"] 1NY3 AL591846 55961055 MAPKAPK2 Chromosome:1 1q32 MAPKAPK2 HGNC:6887 true 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2151 CDBP02150 Urea transporter 1 Q13336 UT1_HUMAN false true Transporter Homo_sapiens SLC14A1 389 48341.29 6.531 Involved in urea transmembrane transporter activity Specialized low-affinity urea transporter. Mediates urea transport in erythrocytes. AK123681 193784782 SLC14A1 18 18q11-q12 SLC14A1 HGNC:10918 true hsa:6563 NP_001122060.3:NM_001128588.3;NP_001139508.2:NM_001146036.2;NP_001139509.1:NM_001146037.1;NP_056949.4:NM_015865.6 Erythrocytes. 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2152 CDBP02151 Glucokinase regulatory protein Q14397 GCKR_HUMAN true false Enzyme Homo_sapiens GCKR 625 68700.7 6.68 Involved in enzyme inhibitor activity Inhibits glucokinase by forming an inactive complex with this enzyme ["None"] ["None"] AC074117 62822301 GCKR Chromosome:2 2p23 GCKR HGNC:4196 true 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2153 CDBP02152 Matrix metalloproteinase-14 P50281 MMP14_HUMAN true false Enzyme Homo_sapiens MMP14 582 65883.4 7.87 Involved in metalloendopeptidase activity Seems to specifically activate progelatinase A. May thus trigger invasion by tumor cells by activating progelatinase A on the tumor cell surface ["1-20"] ["542-562"] 1BUV AK291325 158256086 MMP14 Chromosome:1 14q11-q12 MMP14 HGNC:7160 true 2020-06-12T23:07:02Z 2020-07-28T02:27:33Z 0 1 0 2154 CDBP02153 Selenocysteine-specific elongation factor P57772 SELB_HUMAN false false Enzyme Homo_sapiens EEFSEC 596 65304.1 8.48 Involved in GTPase activity Translation factor necessary for the incorporation of selenocysteine into proteins. It probably replaces EF-Tu for the insertion of selenocysteine directed by the UGA codon. SelB binds GTP and GDP ["None"] ["None"] NM_021937.3 54607086 EEFSEC Chromosome:3 3q21.3 EEFSEC HGNC:24614 true 2020-06-12T23:07:02Z 2020-07-28T02:33:43Z 0 0 0 2155 CDBP02154 Versican core protein P13611 CSPG2_HUMAN true false Enzyme Homo_sapiens VCAN 3396 372816.9 4.15 Involved in binding May play a role in intercellular signaling and in connecting cells with the extracellular matrix. May take part in the regulation of cell motility, growth and differentiation. Binds hyaluronic acid ["1-20"] ["None"] NM_004385.4 21361116 VCAN Chromosome:5 5q14.3 VCAN HGNC:2464 true 2020-06-12T23:07:02Z 2020-07-28T02:27:33Z 0 1 0 2156 CDBP02155 Solute carrier family 15 member 2 Q16348 S15A2_HUMAN false true Transporter Homo_sapiens SLC15A2 729 81782.8 8.27 Involved in transporter activity Proton-coupled intake of oligopeptides of 2 to 4 amino acids with a preference for dipeptides ["None"] ["58-78", "88-108", "115-135", "140-160", "184-204", "218-238", "296-316", "344-364", "381-401", "568-588", "612-632", "644-664", "675-695"] AK289820 158260663 SLC15A2 Chromosome:3 3q13.33 SLC15A2 HGNC:10921 true 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2157 CDBP02156 5-hydroxytryptamine receptor 3A P46098 5HT3A_HUMAN true true Enzyme Homo_sapiens HTR3A 478 55279.8 7.43 Involved in extracellular ligand-gated ion channel activity This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand-gated ion channel, which when activated causes fast, depolarizing responses in neurons. It is a cation-specific, but otherwise relatively nonselective, ion channel ["1-23"] ["242-268", "274-292", "303-321", "456-475"] D49394 HTR3A Chromosome:1 11q23.1 HTR3A HGNC:5297 true 2020-06-12T23:07:02Z 2020-07-28T02:27:33Z 0 0 0 2158 CDBP02157 ATP-sensitive inward rectifier potassium channel 11 Q14654 IRK11_HUMAN false true Transporter Homo_sapiens KCNJ11 390 43540.4 8.1 Involved in inward rectifier potassium channel activity This receptor is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium ["None"] ["69-93", "145-166"] BC064497 62023267 KCNJ11 Chromosome:1 11p15.1 KCNJ11 HGNC:6257 true 2020-06-12T23:07:02Z 2020-07-28T02:32:09Z 0 0 0 2159 CDBP02158 Cadherin-15 P55291 CAD15_HUMAN false false Metal Binding Homo_sapiens CDH15 814 88915.0 4.58 Involved in calcium ion binding Cadherins are calcium dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. M-cadherin is part of the myogenic program and may provide a trigger for terminal muscle differentiation ["1-21"] ["607-626"] BC008951 14286300 CDH15 Chromosome:1 16q24.3 CDH15 HGNC:1754 true 2020-06-12T23:07:02Z 2020-07-28T02:31:58Z 0 1 0 2160 CDBP02159 C-type lectin domain family 4 member M Q9H2X3 CLC4M_HUMAN false false Enzyme Homo_sapiens CLEC4M 399 45349.9 4.83 Involved in sugar binding Probable pathogen-recognition receptor involved in peripheral immune surveillance in liver. May mediate the endocytosis of pathogens which are subsequently degraded in lysosomal compartments. Probably recognizes in a calcium-dependent manner high mannose N-linked oligosaccharides in a variety of pathogen antigens, including HIV-1 gp120, HIV-2 gp120, SIV gp120, ebolavirus glycoproteins, HCV E2, and human SARS coronavirus protein S. Is a receptor for ICAM3, probably by binding to mannose-like carbohydrates. Is presumably a coreceptor for the SARS coronavirus ["None"] ["50-70"] 1XAR NM_014257.4 42542390 CLEC4M Chromosome:1 19p13 CLEC4M HGNC:13523 true 2020-06-12T23:07:02Z 2020-07-28T02:33:43Z 0 0 0 2161 CDBP02160 Matrilysin P09237 MMP7_HUMAN false false Metal Binding Homo_sapiens MMP7 267 29676.6 8.09 Involved in metalloendopeptidase activity Degrades casein, gelatins of types I, III, IV, and V, and fibronectin. Activates procollagenase ["1-17"] ["None"] 1MMR X07819 35799 MMP7 Chromosome:1 11q21-q22 MMP7 HGNC:7174 true 2020-06-12T23:07:02Z 2020-07-28T02:31:58Z 0 1 0 2162 CDBP02161 Amiloride-sensitive sodium channel subunit gamma P51170 SCNNG_HUMAN false true Transporter Homo_sapiens SCNN1G 649 74269.6 7.54 Involved in ligand-gated sodium channel activity Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception ["None"] ["56-76", "542-562"] X87160 1004273 SCNN1G Chromosome:1 16p12 SCNN1G HGNC:10602 true 2020-06-12T23:07:02Z 2020-07-28T02:32:09Z 0 0 0 2163 CDBP02162 7,8-dihydro-8-oxoguanine triphosphatase P36639 8ODP_HUMAN true false Enzyme Homo_sapiens NUDT1 197 17951.435 5.086 Involved in 8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity Antimutagenic. Acts as a sanitizing enzyme for oxidized nucleotide pools, thus suppressing cell dysfunction and death induced by oxidative stress. Hydrolyzes 8-oxo-dGTP, 8-oxo-dATP and 2-OH-dATP, thus preventing misincorporation of oxidized purine nucleoside triphosphates into DNA and subsequently preventing A:T to C:G and G:C to T:A transversions. Able to hydrolyze also the corresponding ribonucleotides, 2-OH-ATP, 8-oxo-GTP and 8-oxo-ATP. 1IRY;3Q93;3ZR0;3ZR1 AB025240 5821385 NUDT1 7 7p22 NUDT1 HGNC:8048 true hsa:4521 HS02879-MONOMER NP_002443.3:NM_002452.3;NP_945186.1:NM_198948.1;NP_945187.1:NM_198949.1;NP_945188.1:NM_198950.1;NP_945190.1:NM_198952.1;NP_945191.1:NM_198953.1;NP_945192.1:NM_198954.1 Widely expressed with highest expression in thymus, testis, embryo and proliferating blood lymphocytes. magnesium ion Monomer 2020-06-12T23:07:02Z 2020-07-28T02:27:34Z 0 1 0 2164 CDBP02163 Synaptosomal-associated protein 25 P60880 SNP25_HUMAN false false Enzyme Homo_sapiens SNAP25 206 23314.9 4.39 Involved in neurotransmitter uptake t-SNARE involved in the molecular regulation of neurotransmitter release. May play an important role in the synaptic function of specific neuronal systems. Associates with proteins involved in vesicle docking and membrane fusion. Regulates plasma membrane recycling through its interaction with CENPF ["None"] ["None"] 1SFC AK223617 62898966 SNAP25 Chromosome:2 20p12-p11.2 SNAP25 HGNC:11132 true 2020-06-12T23:07:02Z 2020-07-28T02:33:44Z 0 0 0 2165 CDBP02164 P2Y purinoceptor 1 P47900 P2RY1_HUMAN false false Receptor Homo_sapiens P2RY1 373 42071.1 9.64 Involved in activation of phospholipase C activity by G Receptor for extracellular adenine nucleotides such as ATP and ADP. In platelets binding to ADP leads to mobilization of intracellular calcium ions via activation of phospholipase C, a change in platelet shape, and probably to platelet aggregation ["None"] ["53-74", "88-109", "127-147", "167-188", "219-238", "266-285", "304-328"] NM_002563.2 4505557 P2RY1 Chromosome:3 3q25.2 true 2020-06-12T23:07:02Z 2020-07-28T02:32:17Z 1 0 0 2166 CDBP02165 Lymphotoxin-beta Q06643 TNFC_HUMAN true false Enzyme Homo_sapiens LTB 244 25389.8 5.02 Involved in tumor necrosis factor receptor binding Cytokine that binds to LTBR/TNFRSF3. May play a specific role in immune response regulation. Provides the membrane anchor for the attachment of the heterotrimeric complex to the cell surface. Isoform 2 is probably non-functional ["None"] ["19-48"] AF129756 4337113 LTB Chromosome:6 6p21.3 LTB HGNC:6711 true 2020-06-12T23:07:02Z 2020-07-28T02:27:34Z 1 0 0 2167 CDBP02166 Rap guanine nucleotide exchange factor 4 Q8WZA2 RPGF4_HUMAN false false Enzyme Homo_sapiens RAPGEF4 1011 115520.7 6.83 Involved in cAMP-dependent protein kinase regulator activity Guanine nucleotide exchange factor (GEF) for RAP1A, RAP1B and RAP2A small GTPases that is activated by binding cAMP. Seems not to activate RAB3A. Involved in cAMP-dependent, PKA- independent exocytosis through interaction with RIMS2 ["None"] ["None"] AB027471 17061825 RAPGEF4 Chromosome:2 2q31-q32 RAPGEF4 HGNC:16626 true 2020-06-12T23:07:02Z 2020-07-28T02:33:44Z 0 0 0 2168 CDBP02167 5-hydroxytryptamine receptor 1D P28221 5HT1D_HUMAN true false Enzyme Homo_sapiens HTR1D 377 41906.4 8.85 Involved in G-protein coupled receptor protein signaling pathway This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins that inhibit adenylate cyclase activity ["None"] ["39-62", "76-98", "109-134", "155-176", "195-218", "303-326", "336-360"] M81589 HTR1D Chromosome:1 1p36.3-p34.3 HTR1D HGNC:5289 true 2020-06-12T23:07:02Z 2020-07-28T02:27:34Z 1 0 0 2169 CDBP02168 Elongation factor 2 P13639 EF2_HUMAN false false Enzyme Homo_sapiens EEF2 858 95337.4 6.82 Involved in GTPase activity This protein promotes the GTP-dependent translocation of the nascent protein chain from the A-site to the P-site of the ribosome ["None"] ["None"] AY942181 60685056 EEF2 Chromosome:1 19pter-q12 EEF2 HGNC:3214 true 2020-06-12T23:07:02Z 2020-07-28T02:33:44Z 0 0 0 2170 CDBP02169 Steroidogenic factor 1 Q13285 STF1_HUMAN false false Enzyme Homo_sapiens NR5A1 461 51635.5 7.73 Involved in sequence-specific DNA binding transcription factor activity Transcriptional activator. Seems to be essential for sexual differentiation and formation of the primary steroidogenic tissues. Binds to the Ad4 site found in the promoter region of steroidogenic P450 genes such as CYP11A, CYP11B and CYP21B. Also regulates the AMH/Muellerian inhibiting substance gene as well as the AHCH and STAR genes. 5'-YCAAGGYC-3' and 5'-RRAGGTCA-3' are the consensus sequences for the recognition by NR5A1. The SFPQ-NONO- NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional avtivity. Binds phosphatidylcholine. Binds phospholipids with a phosphatidylinositol (PI) headgroup, in particular PI(3,4)P2 and PI(3,4,5)P3 ["None"] ["None"] 1YP0 U76388 NR5A1 Chromosome:9 9q33 NR5A1 HGNC:7983 true 2020-06-12T23:07:02Z 2020-07-28T02:33:44Z 1 1 1 2171 CDBP02170 GPI mannosyltransferase 1 Q9H3S5 PIGM_HUMAN true false Enzyme Homo_sapiens PIGM 423 49459.2 9.31 Involved in transferase activity, transferring hexosyl groups Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the first alpha-1,4-mannose to GlcN-acyl-PI during GPI precursor assembly ["None"] ["18-38", "80-100", "139-161", "170-190", "226-246", "288-308", "315-337", "339-350", "358-378", "385-405"] AB028127 11414879 PIGM Chromosome:1 1q23.2 PIGM HGNC:18858 true 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2172 CDBP02171 Cystine/glutamate transporter Q9UPY5 XCT_HUMAN false true Transporter Homo_sapiens SLC7A11 501 55422.44 9.19 Involved in transport Sodium-independent, high-affinity exchange of anionic amino acids with high specificity for anionic form of cystine and glutamate. AB026891 SLC7A11 4 4q28-q32 SLC7A11 HGNC:11059 true hsa:23657 ENSG00000151012-MONOMER NP_055146.1:NM_014331.3 Disulfide-linked heterodimer with the amino acid transport protein SLC3A2/4F2hc 2020-06-12T23:07:02Z 2020-07-28T02:32:09Z 0 0 0 2173 CDBP02172 Beta-1,4-galactosyltransferase 7 Q9UBV7 B4GT7_HUMAN true false Enzyme Homo_sapiens B4GALT7 327 37405.53 8.982 Involved in transferase activity, transferring glycosyl groups Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts. AB028600 5738915 B4GALT7 5 5q35.2-q35.3 B4GALT7 HGNC:930 true hsa:11285 HS00459-MONOMER NP_009186.1:NM_007255.2 High expression in heart, pancreas and liver, medium in placenta and kidney, low in brain, skeletal muscle and lung. Manganese 2020-06-12T23:07:02Z 2020-07-28T02:27:34Z 0 1 0 2174 CDBP02173 Phosphatidylserine synthase 2 Q9BVG9 PTSS2_HUMAN true false Enzyme Homo_sapiens PTDSS2 487 56252.55 6.258 Involved in phosphatidylserine biosynthetic process Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine. PTDSS2 is specific for phosphatatidylethanolamine and does not act on phosphatidylcholine. AL834357 21740008 PTDSS2 11 11p15.5 PTDSS2 HGNC:15463 true hsa:81490 HS10846-MONOMER NP_110410.1:NM_030783.1 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2175 CDBP02174 Chondroitin sulfate glucuronyltransferase Q9P2E5 CHPF2_HUMAN true false Enzyme Homo_sapiens CHPF2 772 85947.205 7.773 Involved in transferase activity, transferring hexosyl groups Transfers glucuronic acid (GlcUA) from UDP-GlcUA to N-acetylgalactosamine residues on the non-reducing end of the elongating chondroitin polymer. Has no N-acetylgalactosaminyltransferase activity. AB095812 CHPF2 7 7q36.1 CHPF2 HGNC:29270 true hsa:54480 HS12080-MONOMER NP_061888.1:NM_019015.1 Ubiquitous. Highly expressed in placenta, small intestine and pancreas. 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2176 CDBP02175 Asc-type amino acid transporter 1 Q9NS82 AAA1_HUMAN false true Transporter Homo_sapiens SLC7A10 523 56797.4 8.24 Amino acid transport and metabolism Sodium-independent, high affinity transport of small neutral D- and L-amino acids. May play a role in the modulation of glutamatergic transmission through mobilization of D-serine at the glutamatergic synapse ["None"] ["40-60", "72-92", "113-133", "268-288", "310-330", "362-382", "388-408", "424-444", "448-468"] AB037670 9309293 SLC7A10 Chromosome:1 19q13.1 true 2020-06-12T23:07:02Z 2020-07-28T02:32:09Z 0 0 0 2177 CDBP02176 Sodium-dependent phosphate transport protein 4 O00476 NPT4_HUMAN false true Transporter Homo_sapiens SLC17A3 420 54258.275 8.523 Involved in transmembrane transport Isoform 2: voltage-driven, multispecific, organic anion transporter able to transport para-aminohippurate (PAH), estrone sulfate, estradiol-17-beta-glucuronide, bumetanide, and ochratoxin A. Isoform 2 functions as urate efflux transporter on the apical side of renal proximal tubule and is likely to act as an exit path for organic anionic drugs as well as urate in vivo. May be involved in actively transporting phosphate into cells via Na(+) cotransport. AL138726 11225666 SLC17A3 6 6p21.3 SLC17A3 HGNC:10931 true hsa:10786 NP_001091956.1:NM_001098486.1;NP_006623.2:NM_006632.3 Expressed in the liver and kidney. It is detected in proximal tubules in renal cortex as well as some tubules and glomeruli, with highest expression at the apical side of proximal tubules (at protein level). 2020-06-12T23:07:02Z 2020-07-28T02:32:09Z 0 0 0 2178 CDBP02177 Electrogenic sodium bicarbonate cotransporter 1 Q9Y6R1 S4A4_HUMAN false true Transporter Homo_sapiens SLC4A4 1079 121459.4 6.79 Involved in anion transport Electrogenic sodium/bicarbonate cotransporter with a Na(+):HCO3(-) stoichiometry varying from 1:2 to 1:3. May regulate bicarbonate influx/efflux at the basolateral membrane of cells and regulate intracellular pH ["None"] ["469-488", "505-526", "555-580", "692-710", "726-748", "778-797", "823-847", "882-901", "950-967", "971-986"] NM_001098484.2 148596928 SLC4A4 Chromosome:4 4q21 SLC4A4 HGNC:11030 true 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2179 CDBP02178 Putative glycerol kinase 3 Q14409 GLPK3_HUMAN true false Enzyme Homo_sapiens GK3P 553 Involved in phosphotransferase activity, alcohol group as acceptor Key enzyme in the regulation of glycerol uptake and metabolism. X78711 515029 GK3P GK3P HGNC:4292 true 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2180 CDBP02179 Pyrroline-5-carboxylate reductase 3 Q53H96 P5CR3_HUMAN true false Enzyme Homo_sapiens PYCRL 274 29892.415 8.109 Involved in oxidoreductase activity AK001500 PYCRL 8 8q24.3 PYCRL HGNC:25846 true hsa:65263 NP_075566.2:NM_023078.3 Homodecamer; composed of 5 homodimers 2020-06-12T23:07:02Z 2020-07-28T02:27:35Z 0 0 0 2181 CDBP02180 Signal peptidase complex subunit 1 Q9Y6A9 SPCS1_HUMAN true false Enzyme Homo_sapiens SPCS1 102 11804.7 9.73 Involved in peptidase activity Component of the microsomal signal peptidase complex which removes signal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum ["None"] ["20-42", "47-69"] AK027426 193786537 SPCS1 Chromosome:3 3p21.1 SPCS1 HGNC:23401 true 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2182 CDBP02181 UDP-N-acetylglucosamine transporter Q9Y2D2 S35A3_HUMAN true true Enzyme Homo_sapiens SLC35A3 325 40684.46 8.903 Involved in sugar:hydrogen symporter activity Uridine diphosphate-N-acetylglucosamine transporter in the Golgi apparatus. AB021981 4903004 SLC35A3 1 1p21 SLC35A3 HGNC:11023 true hsa:23443 NP_001258614.1:NM_001271685.1;NP_036375.1:NM_012243.2 2020-06-12T23:07:02Z 2020-07-28T02:27:35Z 0 0 0 2183 CDBP02182 Sodium-dependent phosphate transporter 2 Q08357 S20A2_HUMAN false true Enzyme Homo_sapiens SLC20A2 652 70391.755 6.535 Involved in inorganic phosphate transmembrane transporter activity Sodium-phosphate symporter which seems to play a fundamental housekeeping role in phosphate transport by absorbing phosphate from interstitial fluid for normal cellular functions such as cellular metabolism, signal transduction, and nucleic acid and lipid synthesis. In vitro, sodium-dependent phosphate uptake is not siginificantly affected by acidic and alkaline conditions, however sodium-independent phosphate uptake occurs at acidic conditions. May play a role in extracellular matrix, cartilage and vascular calcification. Functions as a retroviral receptor and confers human cells susceptibility to infection to amphotropic murine leukemia virus (A-MuLV), 10A1 murine leukemia virus (10A1 MLV) and some feline leukemia virus subgroup B (FeLV-B) variants. AK291202 158255840 SLC20A2 8 8p11.21 SLC20A2 HGNC:10947 true hsa:6575 NP_001244109.1:NM_001257180.1;NP_001244110.1:NM_001257181.1;NP_006740.1:NM_006749.4 Ubiquitously expressed. Homodimer 2020-06-12T23:07:02Z 2020-07-28T02:33:44Z 1 0 0 2184 CDBP02183 Phosphatidylinositol-glycan biosynthesis class W protein Q7Z7B1 PIGW_HUMAN true false Enzyme Homo_sapiens PIGW 504 Involved in transferase activity, transferring acyl groups Probable acetyltransferase, which acetylates the inositol ring of phosphatidylinositol during biosynthesis of GPI-anchor. Acetylation during GPI-anchor biosynthesis is not essential for the subsequent mannosylation and is usually removed soon after the attachment of GPIs to proteins (By similarity). AB097818 31339065 PIGW PIGW HGNC:23213 true hsa:284098 NP_848612.2:NM_178517.3 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2185 CDBP02184 Dihydropyrimidinase-related protein 3 Q14195 DPYL3_HUMAN true false Enzyme Homo_sapiens DPYSL3 570 61962.8 6.45 Involved in hydrolase activity Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, neuronal growth cone collapse and cell migration ["None"] ["None"] D78014 1330242 DPYSL3 Chromosome:5 5q32 DPYSL3 HGNC:3015 true 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2186 CDBP02185 Large neutral amino acids transporter small subunit 3 O75387 LAT3_HUMAN false false Enzyme Homo_sapiens SLC43A1 559 61476.2 7.73 Involved in transmembrane transport Sodium-independent, high affinity transport of large neutral amino acids. Has narrower substrate selectivity compared to SLC7A5 and SLC7A8 and mainly transports branched-chain amino acids and phenylalanine. Plays a role in the development of human prostate cancer, from prostatic intraepithelial neoplasia to invasive prostate cancer ["None"] ["20-40", "78-98", "105-124", "131-151", "168-188", "191-211", "304-324", "357-377", "419-439", "446-466", "485-505", "510-530"] AB103033 38015938 SLC43A1 Chromosome:1 11p11.2-p11.1 SLC43A1 HGNC:9225 true 2020-06-12T23:07:02Z 2020-07-28T02:33:44Z 0 0 0 2187 CDBP02186 Peroxiredoxin-1 Q06830 PRDX1_HUMAN true false Enzyme Homo_sapiens PRDX1 199 22110.19 8.132 Involved in antioxidant activity Involved in redox regulation of the cell. Reduces peroxides with reducing equivalents provided through the thioredoxin system but not from glutaredoxin. May play an important role in eliminating peroxides generated during metabolism. Might participate in the signaling cascades of growth factors and tumor necrosis factor-alpha by regulating the intracellular concentrations of H(2)O(2). Reduces an intramolecular disulfide bond in GDPD5 that gates the ability to GDPD5 to drive postmitotic motor neuron differentiation (By similarity). 2RII;3HY2 AB451262 197692225 PRDX1 1 1p34.1 PRDX1 HGNC:9352 true hsa:5052 NP_001189360.1:NM_001202431.1;NP_002565.1:NM_002574.3;NP_859047.1:NM_181696.2;NP_859048.1:NM_181697.2 Homodimer; disulfide-linked, upon oxidation . May form heterodimers with AOP2. Interacts with GDPD5; forms a mixed-disulfide with GDPD5 (By similarity) 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2188 CDBP02187 Heparan-sulfate 6-O-sulfotransferase 1 O60243 H6ST1_HUMAN true false Enzyme Homo_sapiens HS6ST1 411 48225.71 8.796 Involved in sulfotransferase activity 6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate (PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate. NM_004807.2 148747866 HS6ST1 2 2q21 HGNC:5201 true hsa:9394 ENSG00000136720-MONOMER NP_004798.3:NM_004807.2 Expressed in fetal brain. 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2189 CDBP02188 1-acyl-sn-glycerol-3-phosphate acyltransferase epsilon Q9NUQ2 PLCE_HUMAN true false Enzyme Homo_sapiens AGPAT5 364 42071.835 9.093 Involved in acyltransferase activity Converts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acyl moiety at the sn-2 position of the glycerol backbone. Acts on LPA containing saturated or unsaturated fatty acids C15:0-C20:4 at the sn-1 position using C18:1-CoA as the acyl donor. Also acts on lysophosphatidylethanolamine using oleoyl-CoA, but not arachidonoyl-CoA, and lysophosphatidylinositol using arachidonoyl-CoA, but not oleoyl-CoA. Activity toward lysophosphatidylglycerol not detectable. AF375789 14161585 AGPAT5 8 8p23.1 AGPAT5 HGNC:20886 true hsa:55326 HS08034-MONOMER NP_060831.2:NM_018361.3 Widely expressed. 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2190 CDBP02189 Retinol dehydrogenase 16 O75452 RDH16_HUMAN true false Enzyme Homo_sapiens RDH16 317 35673.1 8.77 Involved in oxidoreductase activity Oxidoreductase with a preference for NAD. Oxidizes all- trans-retinol and 13-cis-retinol to the corresponding aldehydes. Has higher activity towards CRBP-bound retinol than with free retinol. Oxidizes 3-alpha-hydroxysteroids. Oxidizes androstanediol and androsterone to dihydrotestosterone and androstanedione. Can also catalyze the reverse reaction ["None"] ["289-309"] AF057034 3372592 RDH16 Chromosome:1 12q13.3 RDH16 HGNC:29674 true 2020-06-12T23:07:02Z 2020-07-28T02:27:35Z 0 0 0 2191 CDBP02190 V-type proton ATPase 116 kDa subunit a isoform 2 Q9Y487 VPP2_HUMAN true true Enzyme Homo_sapiens ATP6V0A2 856 98081.5 6.59 Energy production and conversion Part of the proton channel of V-ATPases. Essential component of the endosomal pH-sensing machinery. May play a role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH ["None"] ["406-426", "452-472", "555-575", "592-612", "623-643", "651-671", "754-774", "787-807"] AF112972 4151944 ATP6V0A2 Chromosome:1 12q24.31 true 2020-06-12T23:07:02Z 2020-07-28T02:27:35Z 0 0 0 2192 CDBP02191 Phosphopantothenate--cysteine ligase Q9HAB8 Q5VVM0_HUMAN true false Enzyme Homo_sapiens PPCS 138 15645.035 5.889 Coenzyme transport and metabolism Catalyzes the first step in the biosynthesis of coenzyme A from vitamin B5, where cysteine is conjugated to 4'-phosphopantothenate to form 4-phosphopantothenoylcysteine. 1P9O AL445669 55665120 PPCS 1 1p34.2 PPCS HGNC:25686 true hsa:79717 NP_001070915.1:NM_001077447.1;NP_078940.2:NM_024664.2 Homodimer 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2193 CDBP02192 Sodium-dependent phosphate transporter 1 Q8WUM9 S20A1_HUMAN false true Enzyme Homo_sapiens SLC20A1 679 73699.01 7.077 Involved in inorganic phosphate transmembrane transporter activity Sodium-phosphate symporter which plays a fundamental housekeeping role in phosphate transport, such as absorbing phosphate from interstitial fluid for normal cellular functions such as cellular metabolism, signal transduction, and nucleic acid and lipid synthesis. May play a role in extracellular matrix and cartilage calcification as well as in vascular calcification. May function as a retroviral receptor as it confers human cells susceptibility to infection to Gibbon Ape Leukemia Virus (GaLV), Simian sarcoma-associated virus (SSAV) and Feline leukemia virus subgroup B (FeLV-B) as well as 10A1 murine leukemia virus (10A1 MLV). AC079922 62822373 SLC20A1 2 2q13 SLC20A1 HGNC:10946 true hsa:6574 NP_005406.3:NM_005415.4 Ubiquitously expressed. 2020-06-12T23:07:02Z 2020-07-28T02:33:44Z 1 0 0 2194 CDBP02193 Xylosyltransferase 1 Q86Y38 XYLT1_HUMAN true false Enzyme Homo_sapiens XYLT1 959 107568.4 9.61 Involved in acetylglucosaminyltransferase activity Catalyzes the first step in biosynthesis of glycosaminoglycan. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein. Initial enzyme in the biosynthesis of chondroitin sulfate and dermatan sulfate proteoglycans in fibroblasts and chondrocytes ["None"] ["18-38"] NM_022166.3 28269693 XYLT1 Chromosome:1 16p12.3 XYLT1 HGNC:15516 true 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2195 CDBP02194 Peroxiredoxin-2 P32119 PRDX2_HUMAN false false Enzyme Homo_sapiens PRDX2 198 21891.725 5.972 Involved in antioxidant activity Involved in redox regulation of the cell. Reduces peroxides with reducing equivalents provided through the thioredoxin system. It is not able to receive electrons from glutaredoxin. May play an important role in eliminating peroxides generated during metabolism. Might participate in the signaling cascades of growth factors and tumor necrosis factor-alpha by regulating the intracellular concentrations of H(2)O(2). 1QMV Z22548 438069 PRDX2 19 19p13.2 PRDX2 HGNC:9353 true hsa:7001 NP_005800.3:NM_005809.4;NP_859428.1:NM_181738.1 Homodimer; disulfide-linked, upon oxidation. May be found as a toroid-shaped decamer composed of 5 dimers, depending on pH and calcium concentration. Interacts with TIPIN 2020-06-12T23:07:02Z 2020-07-28T02:33:44Z 0 0 0 2196 CDBP02195 Carbonic anhydrase 5B, mitochondrial Q9Y2D0 CAH5B_HUMAN true false Enzyme Homo_sapiens CA5B 317 36433.43 7.816 Involved in carbonate dehydratase activity Reversible hydration of carbon dioxide. AB021660 CA5B X Xp21.1 CA5B HGNC:1378 true hsa:11238 NP_009151.1:NM_007220.3 Strongest expression in heart, pancreas, kidney, placenta, lung, and skeletal muscle. Not expressed in liver. Zinc 2020-06-12T23:07:02Z 2020-07-28T02:27:35Z 0 1 0 2197 CDBP02196 Solute carrier family 13 member 1 Q9BZW2 S13A1_HUMAN false true Transporter Homo_sapiens SLC13A1 595 66133.6 8.19 Involved in transporter activity Sodium/sulfate cotransporter that mediates sulfate reabsorption in the kidney ["None"] ["13-33", "41-61", "77-97", "108-128", "131-151", "239-259", "290-310", "348-368", "381-401", "464-484", "491-511", "512-532", "554-574"] AF260824 SLC13A1 Chromosome:7 7q31-q32 SLC13A1 HGNC:10916 true 2020-06-12T23:07:02Z 2020-07-28T02:32:09Z 0 0 0 2198 CDBP02197 Pendrin O43511 S26A4_HUMAN false true Transporter Homo_sapiens SLC26A4 780 85722.2 6.29 Involved in secondary active sulfate transmembrane transporter activity Sodium-independent transporter of chloride and iodide ["None"] ["110-130", "136-156", "192-212", "264-284", "296-316", "345-365", "385-405", "422-442", "449-469", "487-507", "653-673"] NM_000441.1 4505697 SLC26A4 Chromosome:7 7q31 SLC26A4 HGNC:8818 true 2020-06-12T23:07:02Z 2020-07-28T02:32:09Z 0 0 0 2199 CDBP02198 Solute carrier family 12 member 1 Q13621 S12A1_HUMAN false true Transporter Homo_sapiens SLC12A1 1099 121449.1 7.41 Involved in transport Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume ["None"] ["178-198", "202-222", "260-280", "303-323", "328-348", "380-400", "418-438", "485-505", "551-571", "572-592", "610-630", "793-813"] NM_000338.2 134254459 SLC12A1 Chromosome:1 15q15-q21.1 SLC12A1 HGNC:10910 true 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2200 CDBP02199 Solute carrier family 12 member 4 Q9UP95 S12A4_HUMAN false true Transporter Homo_sapiens SLC12A4 1085 120648.7 6.41 Involved in transport Mediates electroneutral potassium-chloride cotransport when activated by cell swelling. May contribute to cell volume homeostasis in single cells. May be involved in the regulation of basolateral Cl(-) exit in NaCl absorbing epithelia. Isoform 4 has no transport activity ["None"] ["119-139", "149-169", "215-235", "253-273", "276-296", "356-376", "408-428", "453-473", "494-514", "567-587", "628-648", "845-865"] U55054 SLC12A4 Chromosome:1 16q22.1 SLC12A4 HGNC:10913 true 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2201 CDBP02200 Retinol dehydrogenase 12 Q96NR8 RDH12_HUMAN true false Enzyme Homo_sapiens RDH12 316 35093.5 10.2 Involved in oxidoreductase activity Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal reductase. Displays high activity toward 9-cis and all-trans-retinol. Also involved in the metabolism of short-chain aldehydes. No steroid dehydrogenase activity detected. Might be the key enzyme in the formation of 11-cis-retinal from 11-cis-retinol during regeneration of the cone visual pigments ["None"] ["None"] AK054835 RDH12 Chromosome:1 14q24.1 RDH12 HGNC:19977 true 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2202 CDBP02201 Sodium-coupled neutral amino acid transporter 3 Q99624 S38A3_HUMAN false true Transporter Homo_sapiens SLC38A3 504 55772.4 8.01 Amino acid transport and metabolism Sodium-dependent amino acid/proton antiporter. Mediates electrogenic cotransport of glutamine and sodium ions in exchange for protons. Also recognizes histidine, asparagine and alanine. May mediate amino acid transport in either direction under physiological conditions. May play a role in nitrogen metabolism and synaptic transmission ["None"] ["83-103", "106-126", "144-164", "187-207", "213-233", "324-344", "366-386", "408-428", "431-451", "471-491"] NM_006841.4 5870893 SLC38A3 Chromosome:3 3p21.3 SLC38A3 HGNC:18044 true 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2203 CDBP02202 Proline synthase co-transcribed bacterial homolog protein O94903 PROSC_HUMAN true false Enzyme Homo_sapiens PROSC 275 30343.7 7.57 ["None"] ["None"] AB018566 4126978 PROSC Chromosome:8 8p11.2 PROSC HGNC:9457 true 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2204 CDBP02203 Acetyl-coenzyme A transporter 1 O00400 ACATN_HUMAN true true Enzyme Homo_sapiens SLC33A1 549 60908.39 7.322 Carbohydrate transport and metabolism Probable acetyl-CoA transporter necessary for O-acetylation of gangliosides. AK312268 189053393 SLC33A1 3 3q25.31 SLC33A1 HGNC:95 true hsa:9197 NP_001177921.1:NM_001190992.1;NP_004724.1:NM_004733.3 Ubiquitous. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. With strongest signals in pancreas. 2020-06-12T23:07:02Z 2020-07-28T02:27:36Z 0 0 0 2205 CDBP02204 Sodium-dependent phosphate transport protein 3 O00624 NPT3_HUMAN false false Enzyme Homo_sapiens SLC17A2 439 47349.775 8.391 Involved in transmembrane transport May be involved in actively transporting phosphate into cells via Na(+) cotransport (By similarity). AL138726 56204534 SLC17A2 6 6p21.3 SLC17A2 HGNC:10930 true hsa:10246 NP_005826.1:NM_005835.2 Expressed in the small intestine, kidney, spleen and testis. Not detected in fetal brain, bone marrow, and mammary gland. 2020-06-12T23:07:02Z 2020-07-28T02:33:44Z 0 0 0 2206 CDBP02205 Cytochrome c oxidase subunit 7A2, mitochondrial P14406 CX7A2_HUMAN true false Enzyme Homo_sapiens COX7A2 83 9395.9 10.27 Involved in cytochrome-c oxidase activity This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport ["None"] ["None"] X15822 30147 COX7A2 Chromosome:6 6q12 COX7A2 HGNC:2288 true 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2207 CDBP02206 Putative uncharacterized protein RPE Q53TV9 Q53TV9_HUMAN true false Enzyme Homo_sapiens RPE 178 19537.4 6.0 Involved in catalytic activity ["None"] ["None"] AC007038 62702161 RPE Chromosome:2 2q32-q33.3 RPE HGNC:10293 true 2020-06-12T23:07:02Z 2020-06-12T23:07:02Z 0 0 0 2208 CDBP02207 Myotubularin-related protein 3 Q13615 MTMR3_HUMAN false false Metal Binding Homo_sapiens MTMR3 1198 133617.635 5.8 Involved in phosphatase activity Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate. May also dephosphorylate proteins phosphorylated on Ser, Thr, and Tyr residues. NM_021090.3 10835109 MTMR3 22 22q12.2 MTMR3 HGNC:7451 true hsa:8897 HS02045-MONOMER NP_066576.1:NM_021090.3;NP_694690.1:NM_153050.2;NP_694691.1:NM_153051.2 2020-06-12T23:07:02Z 2020-07-28T02:31:58Z 0 1 0 2209 CDBP02208 Sodium/hydrogen exchanger 5 Q14940 SL9A5_HUMAN false true Transporter Homo_sapiens SLC9A5 896 99010.5 7.61 Inorganic ion transport and metabolism Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction ["None"] ["46-66", "74-94", "104-124", "135-155", "174-194", "201-221", "247-267", "277-297", "332-352", "361-381", "399-419", "429-449"] AF111173 4071359 SLC9A5 Chromosome:1 16q22.1 true 2020-06-12T23:07:02Z 2020-07-28T02:32:09Z 0 0 0 2210 CDBP02209 tRNA (cytosine(38)-C(5))-methyltransferase O14717 TRDMT_HUMAN true false Enzyme Homo_sapiens TRDMT1 391 44596.17 6.083 Involved in DNA binding Specifically methylates cytosine 38 in the anticodon loop of tRNA(Asp). 1G55 AF012128 TRDMT1 10 10p15.1 TRDMT1 HGNC:2977 true hsa:1787 HS03011-MONOMER NP_004403.1:NM_004412.5 Ubiquitous. Higher expression in testis, ovary and thymus and at much lower levels in spleen, prostate, colon, small intestine, and peripheral blood leukocytes. 2020-06-12T23:07:02Z 2020-07-28T02:27:36Z 0 0 0 2211 CDBP02210 Cholesterol 25-hydroxylase O95992 CH25H_HUMAN true false Enzyme Homo_sapiens CH25H 272 31744.755 7.249 Involved in iron ion binding Catalyzes the formation of 25-hydroxycholesterol from cholesterol, leading to repress cholesterol biosynthetic enzymes. May play an important role in regulating lipid metabolism by synthesizing a corepressor that blocks sterol regulatory element binding protein (SREBP) processing. In testis, production of 25-hydroxycholesterol by macrophages may play a role in Leydig cell differentiation. AF059214 CH25H 10 10q23 CH25H HGNC:1907 true hsa:9023 NP_003947.1:NM_003956.3 Iron 2020-06-12T23:07:03Z 2020-07-28T02:27:36Z 0 1 0 2212 CDBP02211 Sodium/calcium exchanger 1 P32418 NAC1_HUMAN false true Transporter Homo_sapiens SLC8A1 973 108546.1 4.64 Involved in cell communication Rapidly transports Ca(2+) during excitation-contraction coupling. Ca(2+) is extruded from the cell during relaxation so as to prevent overloading of intracellular stores ["1-35"] ["75-96", "137-158", "171-191", "203-225", "229-252", "773-792", "800-822", "825-843", "875-895", "907-927", "945-961"] M91368 SLC8A1 Chromosome:2 2p23-p22 SLC8A1 HGNC:11068 true 2020-06-12T23:07:03Z 2020-07-28T02:32:09Z 0 0 0 2213 CDBP02212 AID Q546Y9 Q546Y9_HUMAN true false Enzyme Homo_sapiens AID 198 23953.3 9.66 Involved in zinc ion binding ["None"] ["None"] AF529823 22297234 AID AID HGNC:13203 true 2020-06-12T23:07:03Z 2020-07-28T02:27:36Z 0 1 0 2214 CDBP02213 Aminoadipate aminotransferase, isoform CRA_b Q4W5N8 Q4W5N8_HUMAN true false Enzyme Homo_sapiens AADAT 425 47351.2 6.96 Transcription ["None"] ["None"] AC084866 63995206 AADAT Chromosome:4 4q33 true 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2215 CDBP02214 Sodium/potassium/calcium exchanger 4 Q8NFF2 NCKX4_HUMAN false false Enzyme Homo_sapiens SLC24A4 605 66950.8 6.31 Involved in transmembrane transport Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+) ["1-21"] ["81-101", "156-176", "184-204", "208-228", "408-428", "441-461", "463-483", "510-530", "541-561", "570-590"] AF520704 21702721 SLC24A4 Chromosome:1 14q32.12 SLC24A4 HGNC:10978 true 2020-06-12T23:07:03Z 2020-07-28T02:33:44Z 0 0 0 2216 CDBP02215 Bile acyl-CoA synthetase Q9Y2P5 S27A5_HUMAN true true Enzyme Homo_sapiens SLC27A5 690 75384.375 7.662 Involved in catalytic activity Acyl-CoA synthetase involved in bile acid metabolism. Proposed to catalyze the first step in the conjugation of C24 bile acids (choloneates) to glycine and taurine before excretion into bile canaliculi by activating them to their CoA thioesters. Seems to activate secondary bile acids entering the liver from the enterohepatic circulation. In vitro, also activates 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanate (THCA), the C27 precursor of cholic acid deriving from the de novo synthesis from cholesterol. AF064255 4768277 SLC27A5 19 19q13.43 SLC27A5 HGNC:10999 true hsa:10998 NP_036386.1:NM_012254.2 Predominantly expressed in liver. 2020-06-12T23:07:03Z 2020-07-28T02:27:37Z 0 0 0 2217 CDBP02216 3-ketodihydrosphingosine reductase Q06136 KDSR_HUMAN true false Enzyme Homo_sapiens KDSR 332 36186.785 7.126 Involved in oxidoreductase activity Catalyzes the reduction of 3-ketodihydrosphingosine (KDS) to dihydrosphingosine (DHS). X63657 296186 KDSR 18 18q21.3 KDSR HGNC:4021 true hsa:2531 NP_002026.1:NM_002035.2 Expressed in all tissues examined. Highest expression in placenta. High expression in lung, kidney, stomach and small intestine, low expression in heart, spleen and skeletal muscle. Weakly expressed in normal hematopoietic tissues. Higher expression in some T-cell malignancies and PHA-stimulated lymphocytes. 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2218 CDBP02217 Mitochondrial ornithine transporter 2 Q9BXI2 ORNT2_HUMAN true true Enzyme Homo_sapiens SLC25A2 301 32580.07 9.079 Involved in transporter activity Ornithine transport across inner mitochondrial membrane, from the cytoplasm to the matrix. AF332005 SLC25A2 5 5q31 SLC25A2 HGNC:22921 true hsa:83884 NP_114153.1:NM_031947.2 Expressed in liver, kidney, pancreas and cultured fibroblasts. 2020-06-12T23:07:03Z 2020-07-28T02:27:37Z 0 0 0 2219 CDBP02218 Glycine cleavage system H protein, mitochondrial P23434 GCSH_HUMAN true false Enzyme Homo_sapiens GCSH 173 Involved in glycine catabolic process The glycine cleavage system catalyzes the degradation of glycine. The H protein shuttles the methylamine group of glycine from the P protein to the T protein. M69175 GCSH GCSH HGNC:4208 true hsa:2653 NP_004474.2:NM_004483.4 lipoyl cofactor covalently The glycine cleavage system is composed of four proteins: P, T, L and H 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2220 CDBP02219 Proton-coupled folate transporter Q96NT5 PCFT_HUMAN false true Transporter Homo_sapiens SLC46A1 459 49770.0 8.97 Involved in transmembrane transport Has been shown to act both as an intestinal proton- coupled high-affinity folate transporter and as an intestinal heme transporter which mediates heme uptake from the gut lumen into duodenal epithelial cells. The iron is then released from heme and may be transported into the bloodstream. Dietary heme iron is an important nutritional source of iron. Shows a higher affinity for folate than heme ["None"] ["87-107", "115-135", "149-169", "183-203", "211-231", "267-287", "303-325", "337-357", "359-379", "390-410", "423-443"] AK054669 SLC46A1 Chromosome:1 17q11.2 SLC46A1 HGNC:30521 true 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2221 CDBP02220 Cytosolic beta-glucosidase Q9H227 GBA3_HUMAN true false Enzyme Homo_sapiens GBA3 469 Involved in hydrolase activity, hydrolyzing O-glycosyl compounds Glycosidase probably involved in the intestinal absorption and metabolism of dietary flavonoid glycosides. Able to hydrolyze a broad variety of glycosides including phytoestrogens, flavonols, flavones, flavanones and cyanogens. Possesses beta-glycosylceramidase activity and may be involved in a nonlysosomal catabolic pathway of glycosylceramide. 2E9L;2E9M;2JFE;2ZOX;3VKK AB017913 11559218 GBA3 GBA3 HGNC:19069 true hsa:57733 NP_001121904.1:NM_001128432.1;NP_066024.1:NM_020973.3 Present in small intestine (at protein level). Expressed in liver, small intestine, colon, spleen and kidney. Down-regulated in renal cell carcinomas and hepatocellular carcinomas. 2020-06-12T23:07:03Z 2020-07-28T02:27:37Z 0 0 0 2222 CDBP02221 Thioredoxin-dependent peroxide reductase, mitochondrial P30048 PRDX3_HUMAN true false Enzyme Homo_sapiens PRDX3 256 27692.375 7.783 Posttranslational modification, protein turnover, chaperones Involved in redox regulation of the cell. Protects radical-sensitive enzymes from oxidative damage by a radical-generating system. Acts synergistically with MAP3K13 to regulate the activation of NF-kappa-B in the cytosol. AK313169 189053735 PRDX3 10 10q25-q26 HGNC:9354 true hsa:10935 NP_006784.1:NM_006793.2;NP_054817.2:NM_014098.2 Dodecameric ring assembled from homodimeric units; disulfide-linked, upon oxidation. The rings have an approximate diameter of 150 A and a central hole of 70 A. 3-5% of the rings are interlocked by pairs. Binds MAP3K13. Interacts with NEK6. Interacts with LRRK2 2020-06-12T23:07:03Z 2020-07-28T02:27:37Z 0 0 1 2223 CDBP02222 Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase Q9BVK2 ALG8_HUMAN true false Enzyme Homo_sapiens ALG8 526 60086.915 9.144 Involved in transferase activity, transferring hexosyl groups Adds the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc(1)Man(9)GlcNAc(2)-PP-Dol (By similarity). NM_024079.4 56121818 ALG8 11 11q14.1 ALG8 HGNC:23161 true hsa:79053 NP_076984.2:NM_024079.4 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2224 CDBP02223 Sodium/hydrogen exchanger 8 Q9Y2E8 SL9A8_HUMAN false true Transporter Homo_sapiens SLC9A8 581 65421.2 6.51 Involved in solute:hydrogen antiporter activity Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction ["None"] ["60-80", "84-104", "123-143", "156-176", "191-211", "264-284", "311-331", "354-374", "379-399", "417-437", "451-471"] NM_015266.1 41872703 SLC9A8 Chromosome:2 20q13.13 SLC9A8 HGNC:20728 true 2020-06-12T23:07:03Z 2020-07-28T02:32:09Z 0 0 0 2225 CDBP02224 Cytochrome b reductase 1 Q53TN4 CYBR1_HUMAN true false Enzyme Homo_sapiens CYBRD1 286 31641.0 9.02 Involved in ferric-chelate reductase activity Ferric-chelate reductase that reduces Fe(3+) to Fe(2+). Present at the brush border of duodenal enterocytes where it probably reduces dietary Fe(3+) thereby facilitating its transport into the mucosal cells. Uses ascorbate as electron donor. May be involved in extracellular ascorbate recycling in erythrocyte membranes. May also act as a ferrireductase in airway epithelial cells ["None"] ["12-32", "49-69", "85-105", "123-143", "158-178", "199-219"] AC007969 62822181 CYBRD1 Chromosome:2 2q31.1 CYBRD1 HGNC:20797 true 2020-06-12T23:07:03Z 2020-07-28T02:27:37Z 0 0 0 2226 CDBP02225 Maltase-glucoamylase, intestinal O43451 MGA_HUMAN true false Enzyme Homo_sapiens MGAM 1857 Involved in catalytic activity May serve as an alternate pathway for starch digestion when luminal alpha-amylase activity is reduced because of immaturity or malnutrition. May play a unique role in the digestion of malted dietary oligosaccharides used in food manufacturing. 2QLY;2QMJ;3CTT;3L4T;3L4U;3L4V;3L4W;3L4X;3L4Y;3L4Z;3TON;3TOP NM_004668.2 221316699 MGAM MGAM HGNC:7043 true hsa:8972 NP_004659.2:NM_004668.2 Expressed in small intestine, granulocyte, and kidney but not in salivary gland or pancreas. Monomer 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2227 CDBP02226 Solute carrier family 12 member 6 Q9UHW9 S12A6_HUMAN false true Transporter Homo_sapiens SLC12A6 1150 127615.7 7.08 Involved in transport Mediates electroneutral potassium-chloride cotransport. May be activated by cell swelling. May contribute to cell volume homeostasis in single cells ["None"] ["186-206", "208-228", "236-256", "277-297", "320-340", "343-363", "481-501", "518-538", "559-579", "632-652", "690-710", "910-930"] AF105366 5106523 SLC12A6 Chromosome:1 15q13 SLC12A6 HGNC:10914 true 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2228 CDBP02227 Sodium/hydrogen exchanger 2 Q9UBY0 SL9A2_HUMAN false true Transporter Homo_sapiens SLC9A2 812 91518.8 9.48 Involved in solute:hydrogen antiporter activity Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Seems to play an important role in colonic sodium absorption ["None"] ["107-127", "139-159", "169-189", "209-229", "237-257", "278-298", "308-328", "361-381", "392-412", "459-479"] 1Y4E AC007239 6624113 SLC9A2 Chromosome:2 2q11.2 SLC9A2 HGNC:11072 true 2020-06-12T23:07:03Z 2020-07-28T02:32:09Z 0 0 0 2229 CDBP02228 Heparan-sulfate 6-O-sulfotransferase 2 Q96MM7 H6ST2_HUMAN true false Enzyme Homo_sapiens HS6ST2 605 73389.99 9.869 Involved in sulfotransferase activity 6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate (PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate. NM_147175.3 116295254 HS6ST2 X Xq26.2 HS6ST2 HGNC:19133 true hsa:90161 NP_001070656.1:NM_001077188.1;NP_671704.3:NM_147175.3 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2230 CDBP02229 Solute carrier family 12 member 7 Q9Y666 S12A7_HUMAN false true Transporter Homo_sapiens SLC12A7 1083 119104.8 6.7 Involved in transport Mediates electroneutral potassium-chloride cotransport when activated by cell swelling. May mediate K(+) uptake into Deiters' cells in the cochlea and contribute to K(+) recycling in the inner ear. Important for the survival of cochlear outer and inner hair cells and the maintenance of the organ of Corti. May be required for basolateral Cl(-) extrusion in the kidney and contribute to renal acidification ["None"] ["119-139", "141-161", "215-235", "253-273", "276-296", "416-436", "457-477", "494-514", "554-574", "578-598", "625-645", "845-865"] NM_006598.2 123701900 SLC12A7 Chromosome:5 5p15 SLC12A7 HGNC:10915 true 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2231 CDBP02230 Carbonic anhydrase 12 O43570 CAH12_HUMAN true false Enzyme Homo_sapiens CA12 354 39450.615 7.22 Involved in carbonate dehydratase activity Reversible hydration of carbon dioxide. 1JCZ;1JD0 AF051882 CA12 15 15q22 CA12 HGNC:1371 true hsa:771 NP_001209.1:NM_001218.3;NP_996808.1:NM_206925.1 Highly expressed in colon, kidney, prostate, intestine and activated lymphocytes. Expressed at much higher levels in the renal cell cancers than in surrounding normal kidney tissue. Moderately expressed in pancreas, ovary and testis. Zinc Homodimer 2020-06-12T23:07:03Z 2020-07-28T02:27:38Z 0 1 0 2232 CDBP02231 Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial P11182 ODB2_HUMAN true false Enzyme Homo_sapiens DBT 482 53486.635 8.518 Involved in acyltransferase activity The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). 1K8M;1K8O;1ZWV;2COO;3RNM AK313191 189053756 DBT 1 1p31 DBT HGNC:2698 true hsa:1629 MONOMER-12007 NP_001909.3:NM_001918.3 lipoyl cofactor covalently Forms a 24-polypeptide structural core with octahedral symmetry 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2233 CDBP02232 Sodium-dependent phosphate transport protein 2C Q8N130 NPT2C_HUMAN false true Transporter Homo_sapiens SLC34A3 599 63518.96 8.364 Inorganic ion transport and metabolism May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Probably mediates 20-30% of the apical influx. AB055000 18147578 SLC34A3 9 9q34 HGNC:20305 true hsa:142680 NP_001170787.1:NM_001177316.1;NP_001170788.1:NM_001177317.1;NP_543153.1:NM_080877.2 2020-06-12T23:07:03Z 2020-07-28T02:32:09Z 0 0 0 2234 CDBP02233 Y+L amino acid transporter 1 Q9UM01 YLAT1_HUMAN false true Transporter Homo_sapiens SLC7A7 511 55990.0 5.07 Involved in transport Involved in the sodium-independent uptake of dibasic amino acids and sodium-dependent uptake of some neutral amino acids. Requires co-expression with SLC3A2/4F2hc to mediate the uptake of arginine, leucine and glutamine. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Involved in the transport of L- arginine in monocytes ["None"] ["37-57", "69-89", "107-127", "133-153", "160-180", "186-206", "222-242", "259-279", "304-324", "383-403", "416-436", "441-461"] AB011263 9836572 SLC7A7 Chromosome:1 14q11.2 SLC7A7 HGNC:11065 true 2020-06-12T23:07:03Z 2020-07-28T02:32:09Z 0 0 0 2235 CDBP02234 Phosphatidylinositol-glycan biosynthesis class X protein Q8TBF5 PIGX_HUMAN true false Enzyme Homo_sapiens PIGX 258 28788.1 6.3 Involved in GPI anchor biosynthetic process Essential component of glycosylphosphatidylinositol- mannosyltransferase 1 which transfers the first of the 4 mannoses in the GPI-anchor precursors during GPI-anchor biosynthesis. Probably acts by stabilizing the mannosyltransferase PIGM ["1-21"] ["231-251"] NM_017861.3 261490706 PIGX Chromosome:3 3q29 PIGX HGNC:26046 true 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2236 CDBP02235 GPI mannosyltransferase 4 Q86VD9 PIGZ_HUMAN true false Enzyme Homo_sapiens PIGZ 579 63472.6 8.28 Involved in transferase activity, transferring glycosyl groups Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers a fourth mannose to some trimannosyl-GPIs during GPI precursor assembly. The presence of a fourth mannose in GPI is facultative and only scarcely detected, suggesting that it only exists in some tissues ["None"] ["131-151", "156-173", "180-200", "216-236", "258-278", "369-389", "391-411", "416-436"] NM_025163.2 30581137 PIGZ Chromosome:3 3q29 PIGZ HGNC:30596 true 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2237 CDBP02236 2-acylglycerol O-acyltransferase 2 Q3SYC2 MOGT2_HUMAN true false Enzyme Homo_sapiens MOGAT2 334 38195.285 9.394 Involved in transferase activity, transferring acyl groups other than amino-acyl groups Catalyzes the formation of diacylglycerol from 2-monoacylglycerol and fatty acyl-CoA. Has a preference toward monoacylglycerols containing unsaturated fatty acids in an order of C18:3 > C18:2 > C18:1 > C18:0. Plays a central role in absorption of dietary fat in the small intestine by catalyzing the resynthesis of triacylglycerol in enterocytes. May play a role in diet-induced obesity. NM_025098.2 37537527 MOGAT2 11 11q13.5 MOGAT2 HGNC:23248 true hsa:80168 NP_079374.2:NM_025098.2 Highly expressed in liver, small intestine, colon, stomach and kidney. 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2238 CDBP02237 4F2 cell-surface antigen heavy chain P08195 4F2_HUMAN false false Enzyme Homo_sapiens SLC3A2 630 67993.3 4.63 Involved in catalytic activity Required for the function of light chain amino-acid transporters. Involved in sodium-independent, high-affinity transport of large neutral amino acids such as phenylalanine, tyrosine, leucine, arginine and tryptophan. Involved in guiding and targeting of LAT1 and LAT2 to the plasma membrane. When associated with SLC7A6 or SLC7A7 acts as an arginine/glutamine exchanger, following an antiport mechanism for amino acid transport, influencing arginine release in exchange for extracellular amino acids. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Required for normal and neoplastic cell growth. When associated with SLC7A5/LAT1, is also involved in the transport of L-DOPA across the blood-brain barrier, and that of thyroid hormones triiodothyronine (T3) and thyroxine (T4) across the cell membrane in tissues such as placenta. Involved in the uptake of methylmercury (MeHg) when administered as the L-cysteine or D,L-homocysteine complexes, and hence plays a role in metal ion homeostasis and toxicity. When associated with SLC7A5 or SLC7A8, involved in the cellular activity of small molecular weight nitrosothiols, via the stereoselective transport of L- nitrosocysteine (L-CNSO) across the transmembrane. Together with ICAM1, regulates the transport activity LAT2 in polarized intestinal cells, by generating and delivering intracellular signals. When associated with SLC7A5, plays an important role in transporting L-leucine from the circulating blood to the retina across the inner blood-retinal barrier ["None"] ["185-205"] NM_002394.5 65506891 SLC3A2 Chromosome:1 11q13 SLC3A2 HGNC:11026 true 2020-06-12T23:07:03Z 2020-07-28T02:33:45Z 0 0 0 2239 CDBP02238 Dual oxidase 2 Q9NRD8 DUOX2_HUMAN true false Enzyme Homo_sapiens DUOX2 1548 175362.865 7.854 Involved in calcium ion binding Generates hydrogen peroxide which is required for the activity of thyroid peroxidase/TPO and lactoperoxidase/LPO. Plays a role in thyroid hormones synthesis and lactoperoxidase-mediated antimicrobial defense at the surface of mucosa. May have its own peroxidase activity through its N-terminal peroxidase-like domain. NM_014080.4 132566532 DUOX2 15 15q15.3 DUOX2 HGNC:13273 true hsa:50506 NP_054799.4:NM_014080.4 Expressed in colon, small intestine, duodenum and tracheal surface epithelial cells (at protein level). Expressed in thyrocytes. Also detected in kidney, liver, lung, pancreas, prostate, salivary glands, rectum and testis. Interacts with TXNDC11, TPO and CYBA 2020-06-12T23:07:03Z 2020-07-28T02:27:38Z 0 1 0 2240 CDBP02239 Methylmalonic aciduria type A protein, mitochondrial Q8IVH4 MMAA_HUMAN true false Enzyme Homo_sapiens MMAA 418 46537.9 9.83 Involved in nucleotide binding Probable GTPase. May function as chaperone. May be involved in the transport of cobalamin (Cbl) into mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis ["None"] ["None"] AK126662 MMAA Chromosome:4 4q31.21 MMAA HGNC:18871 true 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2241 CDBP02240 Excitatory amino acid transporter 3 P43005 EAA3_HUMAN false true Transporter Homo_sapiens SLC1A1 524 57099.8 5.36 Involved in sodium:dicarboxylate symporter activity Transports L-glutamate and also L- and D-aspartate. Essential for terminating the postsynaptic action of glutamate by rapidly removing released glutamate from the synaptic cleft. Acts as a symport by cotransporting sodium. Negatively regulated by ARL6IP5 ["None"] ["19-38", "62-82", "94-114", "210-229", "254-273", "290-309", "316-335", "362-381", "392-411", "420-439"] AB008536 18157236 SLC1A1 Chromosome:9 9p24 SLC1A1 HGNC:10939 true 2020-06-12T23:07:03Z 2020-07-28T02:32:09Z 0 0 0 2242 CDBP02241 Sodium/potassium/calcium exchanger 2 Q9UI40 NCKX2_HUMAN false false Enzyme Homo_sapiens SLC24A2 661 73663.1 5.94 Inorganic ion transport and metabolism Critical component of the visual transduction cascade, controlling the calcium concentration of outer segments during light and darkness. Light causes a rapid lowering of cytosolic free calcium in the outer segment of both retinal rod and cone photoreceptors and the light-induced lowering of calcium is caused by extrusion via this protein which plays a key role in the process of light adaptation. Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+) ["1-58"] ["133-153", "179-199", "205-225", "244-264", "266-286", "470-490", "498-518", "534-554", "570-590", "603-623", "631-651"] AF097366 6650379 SLC24A2 Chromosome:9 9p22-p13 true 2020-06-12T23:07:03Z 2020-07-28T02:33:45Z 0 0 0 2243 CDBP02242 Phosphoethanolamine/phosphocholine phosphatase Q8TCT1 PHOP1_HUMAN true false Enzyme Homo_sapiens PHOSPHO1 267 32350.505 7.65 Involved in phosphatase activity Phosphatase that has a high activity toward phosphoethanolamine (PEA) and phosphocholine (PCho). Involved in the generation of inorganic phosphate for bone mineralization. AJ457189 20196839 PHOSPHO1 17 17q21.32 PHOSPHO1 HGNC:16815 true hsa:162466 NP_001137276.1:NM_001143804.1;NP_848595.1:NM_178500.3 Expressed at sites of mineralization in bone and cartilage. Highly expressed in osteoblast cell line SaOS-2 which produces a mineralized matrix, but not in MG-63 cell line, which do not mineralize. Magnesium 2020-06-12T23:07:03Z 2020-07-28T02:27:39Z 0 1 0 2244 CDBP02243 Solute carrier family 13 member 4 Q9UKG4 S13A4_HUMAN false true Transporter Homo_sapiens SLC13A4 626 69357.9 7.45 Involved in transporter activity Sodium/sulfate cotransporter that mediates sulfate reabsorption in the high endothelial venules (HEV) ["None"] ["13-33", "52-72", "77-97", "113-133", "274-294", "309-329", "372-392", "414-434", "466-486", "499-519", "543-563", "590-610"] NM_012450.2 31795546 SLC13A4 Chromosome:7 7q33 SLC13A4 HGNC:15827 true 2020-06-12T23:07:03Z 2020-07-28T02:32:09Z 0 0 0 2245 CDBP02244 Solute carrier family 12 member 3 P55017 S12A3_HUMAN false true Transporter Homo_sapiens SLC12A3 1021 113124.0 7.94 Involved in transport Electrically silent transporter system. Mediates sodium and chloride reabsorption ["None"] ["136-156", "159-179", "219-239", "262-282", "287-307", "340-360", "378-398", "453-473", "512-532", "535-555", "578-598", "661-681"] NM_001126108.1 186910319 SLC12A3 Chromosome:1 16q13 SLC12A3 HGNC:10912 true 2020-06-12T23:07:03Z 2020-07-28T02:32:09Z 0 0 0 2246 CDBP02245 ATP synthase lipid-binding protein, mitochondrial P48201 AT5G3_HUMAN true true Enzyme Homo_sapiens ATP5G3 142 14692.9 9.77 Involved in hydrogen ion transmembrane transporter activity Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. A homomeric c-ring of probably 10 subunits is part of the complex rotary element ["None"] ["83-103", "118-138"] AC096649 62630225 ATP5G3 Chromosome:2 2q31.1 ATP5G3 HGNC:843 true 2020-06-12T23:07:03Z 2020-07-28T02:27:39Z 0 0 0 2247 CDBP02246 N-lysine methyltransferase SETD8 Q9NQR1 SETD8_HUMAN true false Enzyme Homo_sapiens SETD8 393 39222.325 9.567 Involved in histone-lysine N-methyltransferase activity Protein-lysine N-methyltransferase that monomethylates both histones and non-histone proteins. Specifically monomethylates 'Lys-20' of histone H4 (H4K20me1). H4K20me1 is enriched during mitosis and represents a specific tag for epigenetic transcriptional repression. Mainly functions in euchromatin regions, thereby playing a central role in the silencing of euchromatic genes. Required for cell proliferation, probably by contributing to the maintenance of proper higher-order structure of DNA during mitosis. Involved in chromosome condensation and proper cytokinesis. Nucleosomes are preferred as substrate compared to free histones. Mediates monomethylation of p53/TP53 at 'Lys-382', leading to repress p53/TP53-target genes. 1ZKK;2BQZ;3F9W;3F9X;3F9Y;3F9Z;4IJ8 AF287261 15029567 SETD8 12 12q24.31 SETD8 HGNC:29489 true hsa:387893 NP_065115.3:NM_020382.3 Interacts with L3MBTL1 2020-06-12T23:07:03Z 2020-07-28T02:27:39Z 0 0 1 2248 CDBP02247 Mitochondrial glutamate carrier 2 Q9H1K4 GHC2_HUMAN true false Enzyme Homo_sapiens SLC25A18 315 33848.44 9.242 Involved in binding Involved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is cotransported with H(+). AJ428203 21322707 SLC25A18 22 22q11.2 SLC25A18 HGNC:10988 true hsa:83733 NP_113669.1:NM_031481.1 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2249 CDBP02248 Cytochrome b-c1 complex subunit 10 O14957 QCR10_HUMAN false true Transporter Homo_sapiens UQCR11 56 6569.7 10.35 Involved in ubiquinol-cytochrome-c reductase activity This protein may be closely linked to the iron-sulfur protein in the complex and function as an iron-sulfur protein binding factor ["None"] ["16-36"] D55636 UQCR11 Chromosome:1 19p13.3 UQCR11 HGNC:30862 true 2020-06-12T23:07:03Z 2020-07-28T02:32:09Z 0 0 0 2250 CDBP02249 Cytochrome c oxidase subunit 5A, mitochondrial P20674 COX5A_HUMAN true false Enzyme Homo_sapiens COX5A 150 16762.0 6.78 Involved in cytochrome-c oxidase activity This is the heme A-containing chain of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport ["None"] ["None"] 1V55 NM_004255.3 190885499 COX5A Chromosome:1 15q24.1 COX5A HGNC:2267 true 2020-06-12T23:07:03Z 2020-07-28T02:27:39Z 0 0 0 2251 CDBP02250 Neutral amino acid transporter A P43007 SATT_HUMAN false true Transporter Homo_sapiens SLC1A4 532 55722.5 6.18 Involved in sodium:dicarboxylate symporter activity Transporter for alanine, serine, cysteine, and threonine. Exhibits sodium dependence ["None"] ["42-62", "88-108", "119-139", "217-237", "257-277", "298-318", "328-348", "373-393", "418-438"] AC007386 62822396 SLC1A4 Chromosome:2 2p15-p13 SLC1A4 HGNC:10942 true 2020-06-12T23:07:03Z 2020-07-28T02:32:09Z 0 0 0 2252 CDBP02251 Cationic amino acid transporter 3 Q8WY07 CTR3_HUMAN false true Transporter Homo_sapiens SLC7A3 619 67168.3 6.11 Involved in transport Mediates the uptake of the cationic amino acids arginine, lysine and ornithine in a sodium-independent manner ["None"] ["37-57", "62-82", "108-128", "163-183", "192-212", "234-254", "286-306", "336-356", "383-403", "407-427", "476-496", "507-527", "541-561", "570-590"] AF320612 17224957 SLC7A3 SLC7A3 HGNC:11061 true 2020-06-12T23:07:03Z 2020-07-28T02:32:09Z 0 0 0 2253 CDBP02252 Phosphopantothenoylcysteine decarboxylase Q96CD2 COAC_HUMAN true false Enzyme Homo_sapiens PPCDC 204 22394.965 6.102 Involved in catalytic activity Necessary for the biosynthesis of coenzyme A. Catalyzes the decarboxylation of 4-phosphopantothenoylcysteine to form 4'-phosphopantotheine. 1QZU NM_021823.3 71725351 PPCDC 15 15q24.2 PPCDC HGNC:28107 true hsa:60490 NP_068595.3:NM_021823.3 FMN Homotrimer 2020-06-12T23:07:03Z 2020-07-28T02:27:39Z 0 0 0 2254 CDBP02253 Phosphate carrier protein, mitochondrial Q00325 MPCP_HUMAN true false Enzyme Homo_sapiens SLC25A3 362 39958.38 9.358 Involved in binding Transport of phosphate groups from the cytosol to the mitochondrial matrix. Phosphate is cotransported with H(+). May play a role regulation of the mitochondrial permeability transition pore (mPTP). NM_005888.3 6031192 SLC25A3 12 12q23 SLC25A3 HGNC:10989 true hsa:5250 NP_002626.1:NM_002635.3;NP_005879.1:NM_005888.3;NP_998776.1:NM_213611.2 Interacts with PPIF; the interaction is impaired by CsA 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2255 CDBP02254 CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4 Q11206 SIA4C_HUMAN true false Enzyme Homo_sapiens ST3GAL4 333 38045.1 9.413 Involved in sialyltransferase activity It may catalyze the formation of the NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc- or NeuAc-alpha-2,3-Gal-beta-1,3-GlcNAc-sequences found in terminal carbohydrate groups of glycoproteins and glycolipids. It may be involved in the biosynthesis of the sialyl Lewis X determinant. Also acts on the corresponding 1,3-galactosyl derivative. BC010645 14714972 ST3GAL4 11 11q24.2 ST3GAL4 HGNC:10864 true hsa:6484 NP_001241686.1:NM_001254757.1;NP_001241687.1:NM_001254758.1;NP_001241688.1:NM_001254759.1;NP_006269.1:NM_006278.2 Highly expressed in adult placenta, ovary and testes. 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2256 CDBP02255 Phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing subunit alpha O00443 P3C2A_HUMAN true false Enzyme Homo_sapiens PIK3C2A 1686 190677.8 8.1 Involved in binding Phosphorylates PtdIns, PtdIns4P and PtdIns(4,5)P2. May play a role in clathrin-coated endocytic vesicle formation and EGF signaling cascade. May be involved in mitosis and UV-induced damage response. May be a downstream effector in insulin signaling cascade ["None"] ["None"] BC113658 109731357 PIK3C2A Chromosome:1 11p15.5-p14 PIK3C2A HGNC:8971 true 2020-06-12T23:07:03Z 2020-07-28T02:27:39Z 0 0 0 2257 CDBP02256 Solute carrier family 23 member 1 Q9UHI7 S23A1_HUMAN false true Transporter Homo_sapiens SLC23A1 598 64830.4 6.58 Involved in transporter activity Sodium/ascorbate cotransporter. Mediates electrogenic uptake of vitamin C, with a stoichiometry of 2 Na(+) for each ascorbate ["None"] ["53-73", "82-102", "104-124", "160-180", "208-228", "251-271", "313-333", "359-379", "403-423", "427-447", "458-478", "491-511"] NM_005847.4 44680145 SLC23A1 Chromosome:5 5q31.2 SLC23A1 HGNC:10974 true 2020-06-12T23:07:03Z 2020-07-28T02:32:09Z 0 0 0 2258 CDBP02257 Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial Q13011 ECH1_HUMAN true false Enzyme Homo_sapiens ECH1 328 35815.8 8.12 Lipid transport and metabolism Isomerization of 3-trans,5-cis-dienoyl-CoA to 2-trans,4- trans-dienoyl-CoA ["None"] ["None"] AF030249 2623168 ECH1 Chromosome:1 19q13.1 true 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2259 CDBP02258 Sodium- and chloride-dependent GABA transporter 2 Q9NSD5 S6A13_HUMAN false true Transporter Homo_sapiens SLC6A13 602 57564.995 7.712 Involved in neurotransmitter:sodium symporter activity Terminates the action of GABA by its high affinity sodium-dependent reuptake into presynaptic terminals. AK313511 189069259 SLC6A13 12 12p13.3 SLC6A13 HGNC:11046 true hsa:6540 NP_001177926.1:NM_001190997.2;NP_001230321.1:NM_001243392.1;NP_057699.2:NM_016615.4 Expressed in brain, kidney, lung, liver and testis. 2020-06-12T23:07:03Z 2020-07-28T02:32:09Z 0 0 0 2260 CDBP02259 Sodium/potassium/calcium exchanger 1 O60721 NCKX1_HUMAN false true Transporter Homo_sapiens SLC24A1 1099 121373.1 4.6 Involved in calcium, potassium:sodium antiporter activity Critical component of the visual transduction cascade, controlling the calcium concentration of outer segments during light and darkness. Light causes a rapid lowering of cytosolic free calcium in the outer segment of both retinal rod and cone photoreceptors and the light-induced lowering of calcium is caused by extrusion via this protein which plays a key role in the process of light adaptation. Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+) ["1-"] ["453-473", "498-518", "523-543", "564-584", "586-606", "908-928", "936-956", "972-992", "1011-1031", "1040-1060", "1069-1089"] NM_004727.2 4759128 SLC24A1 Chromosome:1 15q22 SLC24A1 HGNC:10975 true 2020-06-12T23:07:03Z 2020-07-28T02:32:09Z 0 0 0 2261 CDBP02260 Sodium-coupled neutral amino acid transporter 4 Q969I6 S38A4_HUMAN false false Enzyme Homo_sapiens SLC38A4 547 60763.6 6.45 Amino acid transport and metabolism Sodium-dependent amino acid transporter. Mediates electrogenic symport of neutral amino acids and sodium ions. Has a broad specificity, with a preference for Ala, followed by His, Cys, Asn, Ser, Gly, Val, Thr, Gln and Met. May mediate sodium- independent transport of cationic amino acids, such as Arg and Lys. Amino acid uptake is pH-dependent, with low transport activities at pH 6.5, intermediate at pH 7.0 and highest between pH 7.5 and 8.5 ["None"] ["81-101", "105-125", "152-172", "196-216", "221-241", "333-353", "370-390", "412-432", "454-474", "477-497", "515-535"] AB055003 18369789 SLC38A4 Chromosome:1 12q13 SLC38A4 HGNC:14679 true 2020-06-12T23:07:03Z 2020-07-28T02:33:45Z 0 0 0 2262 CDBP02261 Arachidonate 12-lipoxygenase, 12R-type O75342 LX12B_HUMAN true false Enzyme Homo_sapiens ALOX12B 701 80354.9 7.68 Involved in metal ion binding Converts arachidonic acid to 12R- hydroperoxyeicosatetraenoic acid (12R-HPETE) ["None"] ["None"] AF038461 ALOX12B Chromosome:1 17p13.1 ALOX12B HGNC:430 true 2020-06-12T23:07:03Z 2020-07-28T02:27:40Z 0 1 0 2263 CDBP02262 Long-chain fatty acid transport protein 3 Q5K4L6 S27A3_HUMAN true false Enzyme Homo_sapiens SLC27A3 730 78643.4 7.53 Involved in catalytic activity Has acyl-CoA ligase activity for long-chain and very- long-chain fatty acids. Does not exhibit fatty acid transport activity ["None"] ["50-70", "369-389"] NM_024330.1 13236579 SLC27A3 Chromosome:1 1q21.3 SLC27A3 HGNC:10997 true 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2264 CDBP02263 UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter Q9NTN3 S35D1_HUMAN true true Enzyme Homo_sapiens SLC35D1 355 39239.8 8.964 Involved in UDP-glucuronic acid transmembrane transport Transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm to into the endoplasmic reticulum lumen. May participate in glucuronidation and/or chondroitin sulfate biosynthesis. AB044343 SLC35D1 1 1p32-p31 SLC35D1 HGNC:20800 true hsa:23169 NP_055954.1:NM_015139.2 Ubiquitous. 2020-06-12T23:07:03Z 2020-07-28T02:27:40Z 0 0 0 2265 CDBP02264 Excitatory amino acid transporter 1 P43003 EAA1_HUMAN false true Transporter Homo_sapiens SLC1A3 542 59571.9 8.69 Involved in sodium:dicarboxylate symporter activity Transports L-glutamate and also L- and D-aspartate. Essential for terminating the postsynaptic action of glutamate by rapidly removing released glutamate from the synaptic cleft. Acts as a symport by cotransporting sodium ["None"] ["48-68", "91-111", "123-145", "238-260", "281-302", "319-340"] AK312304 189065391 SLC1A3 Chromosome:5 5p13 SLC1A3 HGNC:10941 true 2020-06-12T23:07:03Z 2020-07-28T02:32:09Z 0 0 0 2266 CDBP02265 Solute carrier family 23 member 2 Q9UGH3 S23A2_HUMAN false true Transporter Homo_sapiens SLC23A2 650 70336.2 7.74 Nucleotide transport and metabolism Sodium/ascorbate cotransporter. Mediates electrogenic uptake of vitamin C, with a stoichiometry of 2 Na(+) for each ascorbate ["None"] ["103-123", "140-160", "162-182", "219-239", "242-262", "267-287", "313-333", "372-392", "462-482", "486-506", "514-534", "548-568"] AF058319 3789789 SLC23A2 Chromosome:2 20p13 true 2020-06-12T23:07:03Z 2020-07-28T02:32:09Z 0 0 0 2267 CDBP02266 Carbonic anhydrase 4 P22748 CAH4_HUMAN true false Enzyme Homo_sapiens CA4 312 35032.075 7.821 Involved in carbonate dehydratase activity Reversible hydration of carbon dioxide. May stimulate the sodium/bicarbonate transporter activity of SLC4A4 that acts in pH homeostasis. It is essential for acid overload removal from the retina and retina epithelium, and acid release in the choriocapillaris in the choroid. 1ZNC;3F7B;3F7U;3FW3 M83670 CA4 17 17q23 CA4 HGNC:1375 true hsa:762 NP_000708.1:NM_000717.3 Expressed in the endothelium of the choriocapillaris in eyes (at protein level). Not expressed in the retinal epithelium at detectable levels. Zinc Interacts with SLC4A4 2020-06-12T23:07:03Z 2020-07-28T02:27:40Z 0 1 0 2268 CDBP02267 Sodium/potassium/calcium exchanger 3 Q9HC58 NCKX3_HUMAN false false Enzyme Homo_sapiens SLC24A3 644 71991.4 4.98 Involved in transmembrane transport Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+) ["1-44"] ["108-128", "154-174", "183-203", "211-231", "235-255", "485-505", "511-531", "550-570", "581-601", "616-636"] NM_020689.3 31563526 SLC24A3 Chromosome:2 20p13 SLC24A3 HGNC:10977 true 2020-06-12T23:07:03Z 2020-07-28T02:33:45Z 0 0 0 2269 CDBP02268 Sodium/potassium-transporting ATPase subunit alpha-4 Q13733 AT1A4_HUMAN true true Enzyme Homo_sapiens ATP1A4 1029 19608.69 5.97 Involved in ATP binding This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients. Plays a role in sperm motility. NM_144699.3 153946397 ATP1A4 1 1q23.2 ATP1A4 HGNC:14073 true hsa:480 NP_001001734.1:NM_001001734.1;NP_653300.2:NM_144699.3 Specifically expressed in testis. Found in very low levels in skeletal muscle. Expressed in mature sperm (at protein level). Composed of three subunits: alpha (catalytic), beta and gamma 2020-06-12T23:07:03Z 2020-07-28T02:27:40Z 0 1 0 2270 CDBP02269 Calcium-binding mitochondrial carrier protein Aralar1 O75746 CMC1_HUMAN false true Enzyme Homo_sapiens SLC25A12 678 74761.225 8.387 Involved in transporter activity Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle. Y14494 3559910 SLC25A12 2 2q24 SLC25A12 HGNC:10982 true hsa:8604 NP_003696.2:NM_003705.4 High levels in heart and skeletal muscle, low in brain and very low in kidney. 2020-06-12T23:07:03Z 2020-07-28T02:33:45Z 0 1 0 2271 CDBP02270 Xylosyltransferase 2 Q9H1B5 XYLT2_HUMAN true false Enzyme Homo_sapiens XYLT2 865 96766.3 8.31 Involved in acetylglucosaminyltransferase activity Probably catalyzes the first step in biosynthesis of glycosaminoglycan. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein. Initial enzyme in the biosynthesis of chondroitin sulfate and dermatan sulfate proteoglycans in fibroblasts and chondrocytes. Its enzyme activity has not been demonstrated ["None"] ["16-36"] AJ277442 11322270 XYLT2 Chromosome:1 17q21.33 true 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2272 CDBP02271 Cytochrome c oxidase subunit 6A2, mitochondrial Q02221 CX6A2_HUMAN true false Enzyme Homo_sapiens COX6A2 97 10815.3 11.37 Involved in cytochrome-c oxidase activity This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport ["None"] ["None"] BC029818 20987428 COX6A2 Chromosome:1 16p COX6A2 HGNC:2279 true 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2273 CDBP02272 Excitatory amino acid transporter 2 P43004 EAA2_HUMAN false true Transporter Homo_sapiens SLC1A2 574 62103.7 6.51 Involved in sodium:dicarboxylate symporter activity Transports L-glutamate and also L- and D-aspartate. Essential for terminating the postsynaptic action of glutamate by rapidly removing released glutamate from the synaptic cleft. Acts as a symport by cotransporting sodium ["None"] ["45-64", "88-108", "121-142", "240-259", "280-301", "317-339", "406-430", "437-459"] NM_004171 40254478 SLC1A2 Chromosome:1 11p13-p12 SLC1A2 HGNC:10940 true 2020-06-12T23:07:03Z 2020-07-28T02:32:09Z 0 0 0 2274 CDBP02273 UDP-glucuronic acid decarboxylase 1 Q8NBZ7 UXS1_HUMAN true false Enzyme Homo_sapiens UXS1 420 48151.17 8.946 Involved in catalytic activity Catalyzes the NAD-dependent decarboxylation of UDP-glucuronic acid to UDP-xylose. Necessary for the biosynthesis of the core tetrasaccharide in glycosaminoglycan biosynthesis. 2B69;4GLL NM_025076.3 42516563 UXS1 2 2q12.2 UXS1 HGNC:17729 true hsa:80146 NP_001240804.1:NM_001253875.1;NP_001240805.1:NM_001253876.1;NP_079352.2:NM_025076.4 NAD Interacts with AKT1 2020-06-12T23:07:03Z 2020-07-28T02:27:40Z 0 0 0 2275 CDBP02274 Extracellular superoxide dismutase [Cu-Zn] P08294 SODE_HUMAN true false Enzyme Homo_sapiens SOD3 240 25850.675 6.604 Involved in metal ion binding Protect the extracellular space from toxic effect of reactive oxygen intermediates by converting superoxide radicals into hydrogen peroxide and oxygen. 2JLP J02947 338284 SOD3 4 4p15.2 SOD3 HGNC:11181 true hsa:6649 NP_003093.2:NM_003102.2 Expressed in blood vessels, heart, lung, kidney and placenta. Major SOD isoenzyme in extracellular fluids such as plasma, lymph and synovial fluid. copper ion;zinc ion Homotetramer 2020-06-12T23:07:03Z 2020-07-28T02:27:40Z 0 1 0 2276 CDBP02275 Pyrroline-5-carboxylate reductase Q4W8W1 Q4W8W1_HUMAN true false Enzyme Homo_sapiens P5CR2 319 33726.4 5.91 Involved in oxidoreductase activity L-proline + NAD(P)(+) = 1-pyrroline-5- carboxylate + NAD(P)H ["None"] ["None"] AF151351 4960118 P5CR2 P5CR2 HGNC:30262 true 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2277 CDBP02276 Sodium-driven chloride bicarbonate exchanger Q6U841 S4A10_HUMAN false true Transporter Homo_sapiens SLC4A10 1118 125945.1 6.47 Involved in inorganic anion exchanger activity Electrogenic sodium/bicarbonate cotransporter in exchange for intracellular chloride. Plays an important role in regulating intracellular pH ["None"] ["510-530", "539-559", "563-583", "597-617", "627-647", "721-741", "763-783", "810-830", "856-876", "913-933", "936-956", "999-1019"] NM_001178015.1 295821221 SLC4A10 Chromosome:2 2q23-q24 true 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2278 CDBP02277 Large neutral amino acids transporter small subunit 1 Q01650 LAT1_HUMAN false true Transporter Homo_sapiens SLC7A5 507 55009.6 7.79 Involved in transport Sodium-independent, high-affinity transport of large neutral amino acids such as phenylalanine, tyrosine, leucine, arginine and tryptophan, when associated with SLC3A2/4F2hc. Involved in cellular amino acid uptake. Acts as an amino acid exchanger. Involved in the transport of L-DOPA across the blood- brain barrier, and that of thyroid hormones triiodothyronine (T3) and thyroxine (T4) across the cell membrane in tissues such as placenta. Plays a role in neuronal cell proliferation (neurogenesis) in brain. Involved in the uptake of methylmercury (MeHg) when administered as the L-cysteine or D,L-homocysteine complexes, and hence plays a role in metal ion homeostasis and toxicity. Involved in the cellular activity of small molecular weight nitrosothiols, via the stereoselective transport of L- nitrosocysteine (L-CNSO) across the transmembrane. May play an important role in high-grade gliomas. Mediates blood-to-retina L- leucine transport across the inner blood-retinal barrier which in turn may play a key role in maintaining large neutral amino acids as well as neurotransmitters in the neural retina. Acts as the major transporter of tyrosine in fibroblasts ["None"] ["50-70", "84-104", "120-140", "146-166", "170-190", "199-219", "243-263", "274-294", "319-339", "396-416", "431-451", "458-478"] AB017908 4519803 SLC7A5 Chromosome:1 16q24.3 SLC7A5 HGNC:11063 true 2020-06-12T23:07:03Z 2020-07-28T02:32:09Z 0 0 0 2279 CDBP02278 Cytochrome c oxidase subunit 7B, mitochondrial P24311 COX7B_HUMAN true false Enzyme Homo_sapiens COX7B 80 9160.5 10.87 Involved in cytochrome-c oxidase activity This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport ["None"] ["33-59"] Z14244 30151 COX7B COX7B HGNC:2291 true 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2280 CDBP02279 Patatin-like phospholipase domain-containing protein 4 P41247 PLPL4_HUMAN true false Enzyme Homo_sapiens PNPLA4 253 27980.17 9.111 Involved in metabolic process Lipid hydrolase. AK289888 158260799 PNPLA4 X Xp22.3 PNPLA4 HGNC:24887 true hsa:8228 NP_001135861.1:NM_001142389.1;NP_001166143.1:NM_001172672.1;NP_004641.1:NM_004650.2 Expressed in all tissues examined, including heart, brain, placenta, lung, liver, muscle, kidney, pancreas and spleen. 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2281 CDBP02280 Cytochrome c oxidase subunit 7C, mitochondrial P15954 COX7C_HUMAN true false Enzyme Homo_sapiens COX7C 63 7245.4 10.88 Involved in cytochrome-c oxidase activity This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport ["None"] ["34-60"] X16560 30155 COX7C Chromosome:5 5q14 COX7C HGNC:2292 true 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2282 CDBP02281 Dihydropyrimidinase-related protein 2 Q16555 DPYL2_HUMAN true false Enzyme Homo_sapiens DPYSL2 572 62293.1 6.33 Nucleotide transport and metabolism Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, neuronal growth cone collapse and cell migration ["None"] ["None"] AB020777 6467213 DPYSL2 Chromosome:8 8p22-p21 true 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2283 CDBP02282 Folate receptor gamma P41439 FOLR3_HUMAN true false Enzyme Homo_sapiens FOLR3 243 27638.0 7.88 Involved in folic acid binding Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate to the interior of cells. Isoform Short does not bind folate ["1-23"] ["None"] Z32564 473236 FOLR3 Chromosome:1 11q13 FOLR3 HGNC:3795 true 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2284 CDBP02283 Sodium/calcium exchanger 3 P57103 NAC3_HUMAN false true Transporter Homo_sapiens SLC8A3 927 103008.6 4.76 Involved in cell communication Rapidly transports Ca(2+) during excitation-contraction coupling. Ca(2+) is extruded from the cell during relaxation so as to prevent overloading of intracellular stores ["1-30"] ["74-94", "148-168", "170-190", "203-223", "231-251", "727-747", "755-775", "779-799", "829-849", "861-881", "904-924"] AF508982 22087483 SLC8A3 Chromosome:1 14q24.1 SLC8A3 HGNC:11070 true 2020-06-12T23:07:03Z 2020-07-28T02:32:09Z 0 0 0 2285 CDBP02284 Cytochrome c oxidase subunit 5B, mitochondrial P10606 COX5B_HUMAN true false Enzyme Homo_sapiens COX5B 129 13695.6 9.0 Involved in cytochrome-c oxidase activity This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport ["None"] ["None"] M19961 180941 COX5B Chromosome:2 2cen-q13 COX5B HGNC:2269 true 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2286 CDBP02285 Sodium/calcium exchanger 2 Q9UPR5 NAC2_HUMAN false true Transporter Homo_sapiens SLC8A2 921 100366.9 4.78 Involved in cell communication Rapidly transports Ca(2+) during excitation-contraction coupling. Ca(2+) is extruded from the cell during relaxation so as to prevent overloading of intracellular stores ["1-20"] ["69-90", "131-152", "165-185", "197-219", "223-246", "721-740", "748-770", "773-791", "823-843", "855-875", "893-909"] NM_015063.2 57163987 SLC8A2 Chromosome:1 19q13.3 SLC8A2 HGNC:11069 true 2020-06-12T23:07:03Z 2020-07-28T02:32:09Z 0 0 0 2287 CDBP02286 Carbonic anhydrase 9 Q16790 CAH9_HUMAN true false Enzyme Homo_sapiens CA9 459 49697.36 4.715 Involved in carbonate dehydratase activity Reversible hydration of carbon dioxide. Participates in pH regulation. May be involved in the control of cell proliferation and transformation. Appears to be a novel specific biomarker for a cervical neoplasia. 2HKF;3IAI X66839 1000702 CA9 9 9p13.3 CA9 HGNC:1383 true hsa:768 NP_001207.2:NM_001216.2 Expressed primarily in carcinoma cells lines. Expression is restricted to very few normal tissues and the most abundant expression is found in the epithelial cells of gastric mucosa. Zinc Forms oligomers linked by disulfide bonds 2020-06-12T23:07:03Z 2020-07-28T02:27:41Z 0 1 1 2288 CDBP02287 Long-chain fatty acid transport protein 1 Q6PCB7 S27A1_HUMAN false true Transporter Homo_sapiens SLC27A1 646 71107.5 8.63 Lipid transport and metabolism Involved in translocation of long-chain fatty acids (LFCA) across the plasma membrane. The LFCA import appears to be hormone-regulated in a tissue-specific manner. In adipocytes, but not myocytes, insulin induces a rapid translocation of FATP1 from intracellular compartments to the plasma membrane, paralleled by increased LFCA uptake. May act directly as a bona fide transporter, or alternatively, in a cytoplasmic or membrane- associated multimeric protein complex to trap and draw fatty acids towards accumulation. Plays a pivotal role in regulating available LFCA substrates from exogenous sources in tissues undergoing high levels of beta-oxidation or triglyceride synthesis. May be involved in regulation of cholesterol metabolism. Has acyl-CoA ligase activity for long-chain and very-long-chain fatty acids ["None"] ["14-34"] NM_198580.1 38524616 SLC27A1 Chromosome:1 19p13.11 true 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2289 CDBP02288 Histone-lysine N-methyltransferase MLL3 Q8NEZ4 MLL3_HUMAN true false Enzyme Homo_sapiens MLL3 4911 541365.64 6.497 Involved in DNA binding Histone methyltransferase. Methylates 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Central component of the MLL2/3 complex, a coactivator complex of nuclear receptors, involved in transcriptional coactivation. MLL3 may be a catalytic subunit of this complex. May be involved in leukemogenesis and developmental disorder. 2YSM;2YUK;3UVL;4ERY NM_170606.2 91718902 MLL3 7 7q36.1 MLL3 HGNC:13726 true hsa:58508 NP_733751.2:NM_170606.2 Highly expressed in testis and ovary, followed by brain and liver. Also expressed in placenta, peripherical blood, fetal thymus, heart, lung and kidney. Within brain, expression was highest in hippocampus, caudate nucleus, and substantia nigra. Not detected in skeletal muscle and fetal liver. Component of the MLL2/3 complex (also named ASCOM complex), at least composed of MLL2/ALR or MLL3, ASH2L, RBBP5, WDR5, NCOA6, DPY30, KDM6A, PAXIP1/PTIP, PAGR1 and alpha- and beta-tubulin. Interacts with histone H3 2020-06-12T23:07:03Z 2020-07-28T02:27:41Z 0 1 1 2290 CDBP02289 Cytochrome c oxidase subunit 6B1 P14854 CX6B1_HUMAN true false Enzyme Homo_sapiens COX6B1 86 10192.3 7.13 Involved in cytochrome-c oxidase activity Connects the two COX monomers into the physiological dimeric form ["None"] ["None"] 1V55 X13923 30295 COX6B1 Chromosome:1 19q13.1 COX6B1 HGNC:2280 true 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2291 CDBP02290 Inositol-trisphosphate 3-kinase C Q96DU7 IP3KC_HUMAN true false Enzyme Homo_sapiens ITPKC 683 75207.0 5.139 Involved in inositol trisphosphate 3-kinase activity Can phosphorylate inositol 2,4,5-triphosphate to inositol 2,4,5,6-tetraphosphate (By similarity). 2A98 AJ290975 14330286 ITPKC 19 19q13.1 ITPKC HGNC:14897 true hsa:80271 HS01533-MONOMER NP_079470.1:NM_025194.2 Highly expressed in pancreas, skeletal muscle, liver, placenta and weakly in kidney and brain. 2020-06-12T23:07:03Z 2020-07-28T02:27:41Z 0 0 0 2292 CDBP02291 Cytosolic 5'-nucleotidase 3 Q9H0P0 5NT3_HUMAN true false Enzyme Homo_sapiens NT5C3 336 33914.91 5.854 Involved in magnesium ion binding Can act both as nucleotidase and as phosphotransferase. 2CN1;2JGA;2VKQ NM_001002010.1 70608082 NT5C3 7 7p14.3 NT5C3 HGNC:17820 true hsa:51251 NP_001002009.1:NM_001002009.2;NP_001002010.1:NM_001002010.2;NP_001159590.1:NM_001166118.2;NP_057573.2:NM_016489.12 Isoform 1 and isoform 3 are expressed in reticulocytes and lymphocytes. Isoform 4 is expressed only in reticulocytes. Monomer 2020-06-12T23:07:03Z 2020-07-28T02:27:41Z 0 1 0 2293 CDBP02292 Equilibrative nucleoside transporter 2 Q14542 S29A2_HUMAN true true Enzyme Homo_sapiens SLC29A2 456 50112.3 6.02 Involved in nucleoside transmembrane transporter activity Mediates equilibrative transport of purine, pyrimidine nucleosides and the purine base hypoxanthine. Less sensitive than SLC29A1 to inhibition by nitrobenzylthioinosine (NBMPR), dipyridamole, dilazep and draflazine ["None"] ["13-33", "70-90", "99-119", "124-144", "162-182", "193-213", "291-311", "324-344", "360-380", "386-406", "432-452"] AF029358 2754821 SLC29A2 Chromosome:1 11q13 true 2020-06-12T23:07:03Z 2020-07-28T02:27:41Z 0 0 0 2294 CDBP02293 Chondroitin sulfate N-acetylgalactosaminyltransferase 2 Q8N6G5 CGAT2_HUMAN true false Enzyme Homo_sapiens CSGALNACT2 542 62571.875 5.729 Involved in transferase activity, transferring hexosyl groups Transfers 1,4-N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of glucuronic acid (GlcUA). Required for addition of the first GalNAc to the core tetrasaccharide linker and for elongation of chondroitin chains. AB079252 CSGALNACT2 10 10q11.21 CSGALNACT2 HGNC:24292 true hsa:55454 HS10013-MONOMER NP_061060.3:NM_018590.4 Ubiquitous. 2020-06-12T23:07:03Z 2020-07-28T02:27:41Z 0 1 0 2295 CDBP02294 Excitatory amino acid transporter 5 O00341 EAA5_HUMAN false true Transporter Homo_sapiens SLC1A7 560 60657.8 6.77 Involved in sodium:dicarboxylate symporter activity Transports L-glutamate; the L-glutamate uptake is sodium- and voltage-dependent and chloride-independent. Its associated chloride conductance may participate in visual processing ["None"] ["17-37", "60-80", "94-114", "217-237", "260-280", "300-320", "330-350", "372-392", "414-434", "457-477"] AL445183 55665402 SLC1A7 Chromosome:1 1p32.3 SLC1A7 HGNC:10945 true 2020-06-12T23:07:03Z 2020-07-28T02:32:09Z 0 0 0 2296 CDBP02295 Cytochrome c oxidase subunit 7B2, mitochondrial Q8TF08 CX7B2_HUMAN true false Enzyme Homo_sapiens COX7B2 81 9077.4 10.37 Involved in cytochrome-c oxidase activity This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport ["None"] ["34-60"] NM_130902.2 115527068 COX7B2 Chromosome:4 4p12 COX7B2 HGNC:24381 true 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2297 CDBP02296 Solute carrier organic anion transporter family member 4A1 Q96BD0 SO4A1_HUMAN false true Transporter Homo_sapiens SLCO4A1 722 77192.5 7.85 Involved in transporter activity Mediates the Na(+)-independent transport of organic anions such as the thyroid hormones T3 (triiodo-L-thyronine), T4 (thyroxine) and rT3, and of estrone-3-sulfate and taurocholate ["None"] ["104-124", "144-164", "172-192", "229-249", "263-283", "309-329", "372-392", "424-444", "454-474", "579-599", "617-637", "667-687"] AB031051 SLCO4A1 Chromosome:2 20q13.33 SLCO4A1 HGNC:10953 true 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2298 CDBP02297 Cytochrome c oxidase subunit 4 isoform 1, mitochondrial P13073 COX41_HUMAN true false Enzyme Homo_sapiens COX4I1 169 19576.6 10.12 Involved in cytochrome-c oxidase activity This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport ["None"] ["None"] 1V55 M21575 COX4I1 Chromosome:1 16q24.1 COX4I1 HGNC:2265 true 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2299 CDBP02298 Sodium- and chloride-dependent glycine transporter 2 Q9Y345 SC6A5_HUMAN false true Transporter Homo_sapiens SLC6A5 797 87433.13 7.523 Involved in neurotransmitter:sodium symporter activity Terminates the action of glycine by its high affinity sodium-dependent reuptake into presynaptic terminals. May be responsible for the termination of neurotransmission at strychnine-sensitive glycinergic synapses. NM_004211.3 92859670 SLC6A5 11 11p15.1 SLC6A5 HGNC:11051 true hsa:9152 NP_004202.2:NM_004211.3 Expressed in medulla, and to a lesser extent in spinal cord and cerebellum. 2020-06-12T23:07:03Z 2020-07-28T02:32:09Z 0 0 0 2300 CDBP02299 ENTPD4 protein Q8NE73 Q8NE73_HUMAN true false Enzyme Homo_sapiens ENTPD4 571 64852.9 8.13 Involved in hydrolase activity ["None"] ["None"] BC034477 21759777 ENTPD4 Chromosome:8 8p21.3 ENTPD4 HGNC:14573 true 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2301 CDBP02300 Zinc-binding alcohol dehydrogenase domain-containing protein 2 Q8N4Q0 ZADH2_HUMAN true false Enzyme Homo_sapiens ZADH2 377 40140.1 8.32 Involved in zinc ion binding ["None"] ["None"] AK292880 158259221 ZADH2 Chromosome:1 18q22.3 ZADH2 HGNC:28697 true 2020-06-12T23:07:03Z 2020-07-28T02:27:41Z 0 1 0 2302 CDBP02301 Chloride anion exchanger P40879 S26A3_HUMAN false true Transporter Homo_sapiens SLC26A3 764 84504.0 8.94 Involved in secondary active sulfate transmembrane transporter activity Chloride/bicarbonate exchanger. Involved in absorbtion of in the colon. Helps mediate electrolyte and fluid absorption ["None"] ["77-97", "100-120", "125-145", "176-196", "198-218", "259-279", "286-306", "343-363", "375-395", "412-432", "439-459", "470-490", "644-664", "702-722"] BC025671 19343676 SLC26A3 Chromosome:7 7q31 SLC26A3 HGNC:3018 true 2020-06-12T23:07:03Z 2020-07-28T02:32:10Z 0 0 0 2303 CDBP02302 Aflatoxin B1 aldehyde reductase member 2 O43488 ARK72_HUMAN true false Enzyme Homo_sapiens AKR7A2 359 39588.65 7.171 Energy production and conversion Catalyzes the NADPH-dependent reduction of succinic semialdehyde to gamma-hydroxybutyrate. May have an important role in producing the neuromodulator gamma-hydroxybutyrate (GHB). Has broad substrate specificity. Has NADPH-dependent aldehyde reductase activity towards 2-carboxybenzaldehyde, 2-nitrobenzaldehyde and pyridine-2-aldehyde (in vitro). Can reduce 1,2-naphthoquinone and 9,10-phenanthrenequinone (in vitro). Can reduce the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. May be involved in protection of liver against the toxic and carcinogenic effects of AFB1, a potent hepatocarcinogen. 2BP1 NM_003689.2 41327764 AKR7A2 1 1p36.13 HGNC:389 true hsa:8574 NP_003680.2:NM_003689.3 Detected in brain, liver, small intestine and testis, and at lower levels in heart, prostate, skeletal muscle and spleen. Detected in kidney proximal and distal tubules, endothelial cells lining the Bowman's capsules and some cysts. Detected at low levels in lung and pancreas (at protein level). Widely expressed. Homodimer 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2304 CDBP02303 High affinity cationic amino acid transporter 1 P30825 CTR1_HUMAN true true Enzyme Homo_sapiens SLC7A1 629 67637.6 5.06 Involved in transport High-affinity, low capacity permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine) in non-hepatic tissues. May also function as an ecotropic retroviral leukemia receptor ["None"] ["36-57", "62-82", "103-123", "163-183", "192-212", "247-267", "288-307", "338-358", "385-405", "409-429", "493-513", "527-551", "560-580", "585-605"] X59155 36161 SLC7A1 Chromosome:1 13q12-q14 SLC7A1 HGNC:11057 true 2020-06-12T23:07:03Z 2020-07-28T02:27:42Z 0 0 0 2305 CDBP02304 Beta-1,3-N-acetylglucosaminyltransferase bGnT-2 Q9NY97 Q54AC1_HUMAN true false Enzyme Homo_sapiens bGnT-2 397 46021.6 8.75 Involved in galactosyltransferase activity Catalyzes the initiation and elongation of poly-N- acetyllactosamine chains ["None"] ["None"] AB049584 12619294 bGnT-2 Chromosome:2 2p15 bGnT-2 HGNC:15685 true 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2306 CDBP02305 Cytochrome c oxidase subunit 6B2 Q6YFQ2 CX6B2_HUMAN true false Enzyme Homo_sapiens COX6B2 88 10528.9 9.25 Involved in cytochrome-c oxidase activity Connects the two COX monomers into the physiological dimeric form ["None"] ["None"] AK057427 193248239 COX6B2 Chromosome:1 19q13.42 COX6B2 HGNC:24380 true 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2307 CDBP02306 Sodium bicarbonate cotransporter 3 Q9Y6M7 S4A7_HUMAN false true Transporter Homo_sapiens SLC4A7 1214 127358.16 6.754 Involved in anion transport Electroneutral sodium- and bicarbonate-dependent cotransporter with a Na(+):HCO3(-) 1:1 stoichiometry. Regulates intracellular pH and may play a role in bicarbonate salvage in secretory epithelia. May also have an associated sodium channel activity. NM_003615.3 134288865 SLC4A7 3 3p22 SLC4A7 HGNC:11033 true hsa:9497 NP_001245308.1:NM_001258379.1;NP_001245309.1:NM_001258380.1;NP_003606.3:NM_003615.4 Highly expressed in testis and spleen. Also expressed in retina, colon, small intestine, ovary, thymus, prostate, muscle, heart and kidney. Isoform 1 is expressed in skeletal muscle and heart muscle. Interacts with CFTR through SLC9A3R1/EBP50. Interacts with USH1C. Forms a complex with ATP6V1B1 and SLC9A3R1/EBP50. Interacts in a pH dependent-manner with CA2/carbonic anhydrase 2 2020-06-12T23:07:03Z 2020-07-28T02:27:42Z 1 0 0 2308 CDBP02307 Fatty acid desaturase 2 O95864 FADS2_HUMAN true false Enzyme Homo_sapiens FADS2 444 52259.1 9.18 Involved in heme binding Component of a lipid metabolic pathway that catalyzes biosynthesis of highly unsaturated fatty acids (HUFA) from precursor essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3). Catalyzes the first and rate limiting step in this pathway which is the desaturation of LA (18:2n-6) and ALA (18:3n-3) into gamma- linoleic acid (GLA) (18:3n-6) and stearidonic acid (18:4n-3) respectively and other desaturation steps. Highly unsaturated fatty acids (HUFA) play pivotal roles in many biological functions. It catalizes as well the introduction of a cis double bond in palmitate to produce the mono-unsaturated fatty acid sapienate, the most abundant fatty acid in sebum ["None"] ["132-152", "158-178", "265-285", "306-326"] AF126799 FADS2 Chromosome:1 11q12.2 FADS2 HGNC:3575 true 2020-06-12T23:07:03Z 2020-07-28T02:27:42Z 0 1 0 2309 CDBP02308 Acyl-CoA dehydrogenase family member 10 Q6JQN1 ACD10_HUMAN true false Enzyme Homo_sapiens ACAD10 1059 118833.0 8.13 Involved in acyl-CoA dehydrogenase activity May function as oxidoreductase ["None"] ["None"] NM_025247.5 48976061 ACAD10 Chromosome:1 12q24.12 ACAD10 HGNC:21597 true 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2310 CDBP02309 Gamma-glutamyl hydrolase Q92820 GGH_HUMAN true false Enzyme Homo_sapiens GGH 318 35964.045 7.111 Involved in catalytic activity Hydrolyzes the polyglutamate sidechains of pteroylpolyglutamates. Progressively removes gamma-glutamyl residues from pteroylpoly-gamma-glutamate to yield pteroyl-alpha-glutamate (folic acid) and free glutamate. May play an important role in the bioavailability of dietary pteroylpolyglutamates and in the metabolism of pteroylpolyglutamates and antifolates. 1L9X U55206 GGH 8 8q12.3 GGH HGNC:4248 true hsa:8836 NP_003869.1:NM_003878.2 Homodimer 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2311 CDBP02310 Carbohydrate sulfotransferase 5 Q9GZS9 CHST5_HUMAN true false Enzyme Homo_sapiens CHST5 411 46160.0 10.5 Involved in sulfotransferase activity Catalyzes the transfer of sulfate to position 6 of non- reducing N-acetylglucosamine (GlcNAc) residues and O-linked sugars of mucin-type acceptors. Acts on the non-reducing terminal GlcNAc of short carbohydrate substrates. However, it does not transfer sulfate to longer carbohydrate substrates that have poly-N- acetyllactosamine structures. Has no activity toward keratan. Not involved in generating HEV-expressed ligands for L-selectin. Its substrate specificity may be influenced by its subcellular location ["None"] ["31-48"] NM_024533.3 21362052 CHST5 Chromosome:1 16q22.3 CHST5 HGNC:1973 true 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2312 CDBP02311 Glutamine-dependent NAD(+) synthetase Q6IA69 NADE_HUMAN true false Enzyme Homo_sapiens NADSYN1 706 79283.945 6.442 Involved in NAD+ synthase (glutamine-hydrolyzing) activity AB091316 28849201 NADSYN1 11 11q13.4 NADSYN1 HGNC:29832 true hsa:55191 NP_060631.2:NM_018161.4 Homohexamer 2020-06-12T23:07:03Z 2020-07-28T02:27:42Z 0 0 0 2313 CDBP02312 Sodium-dependent phosphate transport protein 2B O95436 NPT2B_HUMAN false true Transporter Homo_sapiens SLC34A2 690 75598.42 8.261 Involved in sodium-dependent phosphate transmembrane transporter activity May be involved in actively transporting phosphate into cells via Na(+) cotransport. It may be the main phosphate transport protein in the intestinal brush border membrane. May have a role in the synthesis of surfactant in lungs' alveoli. NM_006424.2 110611906 SLC34A2 4 4p15.2 SLC34A2 HGNC:11020 true hsa:10568 NP_001171469.1:NM_001177998.1;NP_001171470.1:NM_001177999.1;NP_006415.2:NM_006424.2 Highly expressed in lung. Also detected in pancreas, kidney, small intestine, ovary, testis, prostate and mammary gland. In lung, it is found in alveolar type II cells but not in bronchiolar epithelium. 2020-06-12T23:07:03Z 2020-07-28T02:32:10Z 0 0 0 2314 CDBP02313 Acyl-CoA dehydrogenase family member 11 Q709F0 ACD11_HUMAN true false Enzyme Homo_sapiens ACAD11 780 87282.7 8.21 Involved in acyl-CoA dehydrogenase activity May function as oxidoreductase (Probable) ["None"] ["None"] AJ608287 38490142 ACAD11 Chromosome:3 3q22.1 ACAD11 HGNC:30211 true 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2315 CDBP02314 Uronyl 2-sulfotransferase Q9Y2C2 UST_HUMAN true false Enzyme Homo_sapiens UST 406 47672.6 8.89 Involved in sulfotransferase activity Sulfotransferase that catalyzes the transfer of sulfate to the position 2 of uronyl residues. Has mainly activity toward iduronyl residues in dermatan sulfate, and weaker activity toward glucuronyl residues of chondroitin sulfate. Has no activity toward desulfated N-resulfated heparin ["None"] ["50-70"] AB020316 4803735 UST Chromosome:6 6q25.1 true 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2316 CDBP02315 Solute carrier family 13 member 2 Q13183 S13A2_HUMAN false true Transporter Homo_sapiens SLC13A2 592 64409.5 7.01 Involved in transporter activity Cotransport of sodium ions and dicarboxylates such as succinate and citrate ["None"] ["13-33", "53-73", "86-106", "114-134", "221-241", "274-294", "324-344", "371-391", "450-470", "482-502", "511-531", "545-565"] U26209 SLC13A2 Chromosome:1 17p13.2 SLC13A2 HGNC:10917 true 2020-06-12T23:07:03Z 2020-07-28T02:32:10Z 0 0 0 2317 CDBP02316 Retinol dehydrogenase 13 Q8NBN7 RDH13_HUMAN true false Enzyme Homo_sapiens RDH13 331 35931.8 8.24 Involved in oxidoreductase activity Does not exhibit retinol dehydrogenase (RDH) activity in vitro ["None"] ["None"] AY358473 RDH13 Chromosome:1 19q13.42 RDH13 HGNC:19978 true 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2318 CDBP02317 Adenosine 3'-phospho 5'-phosphosulfate transporter 1 Q8TB61 S35B2_HUMAN true false Enzyme Homo_sapiens SLC35B2 432 47514.3 9.4 Involved in transmembrane transport Mediates the transport of adenosine 3'-phospho 5'- phosphosulfate (PAPS), from cytosol into Golgi. PAPS is a universal sulfuryl donor for sulfation events that take place in the Golgi. May indirectly participate in activation of the NF- kappa-B and MAPK pathways ["None"] ["5-25", "40-60", "109-129", "154-174", "238-258", "265-285", "299-319", "353-373", "387-407"] NM_178148.2 30026034 SLC35B2 Chromosome:6 6p12.1-p11.2 SLC35B2 HGNC:16872 true 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2319 CDBP02318 Sodium-dependent phosphate transport protein 1 Q14916 NPT1_HUMAN false true Transporter Homo_sapiens SLC17A1 467 51131.04 8.565 Involved in transmembrane transport Important for the resorption of phosphate by the kidney. May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. NM_005074.3 154800443 SLC17A1 6 6p22.2 SLC17A1 HGNC:10929 true hsa:6568 NP_005065.2:NM_005074.3 Expressed in kidney cortex, liver and brain but not in other tissues. Interacts with PDZK1 2020-06-12T23:07:03Z 2020-07-28T02:32:10Z 0 0 0 2320 CDBP02319 Carbonic anhydrase 13 Q8N1Q1 CAH13_HUMAN true false Enzyme Homo_sapiens CA13 262 29442.895 6.967 Involved in carbonate dehydratase activity Reversible hydration of carbon dioxide. 3CZV;3D0N;3DA2 AK095314 CA13 8 8q21.2 CA13 HGNC:14914 true hsa:377677 NP_940986.1:NM_198584.2 Expressed in thymus, small intestine, spleen, prostate, ovary, colon and testis. Zinc 2020-06-12T23:07:03Z 2020-07-28T02:27:42Z 0 1 0 2321 CDBP02320 Sodium-dependent proline transporter Q99884 SC6A7_HUMAN false true Transporter Homo_sapiens SLC6A7 636 70909.935 6.67 Involved in neurotransmitter:sodium symporter activity Terminates the action of proline by its high affinity sodium-dependent reuptake into presynaptic terminals. NM_014228.3 134304856 SLC6A7 5 5q32 SLC6A7 HGNC:11054 true hsa:6534 NP_055043.2:NM_014228.3 Brain. 2020-06-12T23:07:03Z 2020-07-28T02:32:10Z 0 0 0 2322 CDBP02321 Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2 O15357 SHIP2_HUMAN true false Enzyme Homo_sapiens INPPL1 1258 138597.495 6.53 Involved in inositol or phosphatidylinositol phosphatase activity Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3) to produce PtdIns(3,4)P2, thereby negatively regulating the PI3K (phosphoinositide 3-kinase) pathways. Plays a central role in regulation of PI3K-dependent insulin signaling, although the precise molecular mechanisms and signaling pathways remain unclear. While overexpression reduces both insulin-stimulated MAP kinase and Akt activation, its absence does not affect insulin signaling or GLUT4 trafficking. Confers resistance to dietary obesity. May act by regulating AKT2, but not AKT1, phosphorylation at the plasma membrane. Part of a signaling pathway that regulates actin cytoskeleton remodeling. Required for the maintenance and dynamic remodeling of actin structures as well as in endocytosis, having a major impact on ligand-induced EGFR internalization and degradation. Participates in regulation of cortical and submembraneous actin by hydrolyzing PtdIns(3,4,5)P3 thereby regulating membrane ruffling. Regulates cell adhesion and cell spreading. Required for HGF-mediated lamellipodium formation, cell scattering and spreading. Acts as a negative regulator of EPHA2 receptor endocytosis by inhibiting via PI3K-dependent Rac1 activation. Acts as a regulator of neuritogenesis by regulating PtdIns(3,4,5)P3 level and is required to form an initial protrusive pattern, and later, maintain proper neurite outgrowth. Acts as a negative regulator of the FC-gamma-RIIA receptor (FCGR2A). Mediates signaling from the FC-gamma-RIIB receptor (FCGR2B), playing a central role in terminating signal transduction from activating immune/hematopoietic cell receptor systems. Involved in EGF signaling pathway. Upon stimulation by EGF, it is recruited by EGFR and dephosphorylates PtdIns(3,4,5)P3. Plays a negative role in regulating the PI3K-PKB pathway, possibly by inhibiting PKB activity. Down-regulates Fc-gamma-R-mediated phagocytosis in macrophages independently of INPP5D/SHIP1. In macrophages, down-regulates NF-kappa-B-dependent gene transcription by regulating macrophage colony-stimulating factor (M-CSF)-induced signaling. May also hydrolyze PtdIns(1,3,4,5)P4, and could thus affect the levels of the higher inositol polyphosphates like InsP6. 2K4P;2KSO;3NR8;4A9C NM_001567.3 222136583 INPPL1 11 11q13 INPPL1 HGNC:6080 true hsa:3636 HS09233-MONOMER NP_001558.3:NM_001567.3 Widely expressed, most prominently in skeletal muscle, heart and brain. Present in platelets. Expressed in transformed myeloid cells and in primary macrophages, but not in peripheral blood monocytes. Interacts with tyrosine phosphorylated form of SHC1, Interacts with EGFR. Upon stimulation by the EGF signaling pathway, it forms a complex with SHC1 and EGFR. Interacts with cytoskeletal protein SORBS3/vinexin, promoting its localization to the periphery of cells. Forms a complex with filamin (FLNA or FLNB), actin, GPIb (GP1BA or GP1BB) that regulates cortical and submembraneous actin. Interacts with c-Met/MET, when c-Met/MET is phosphorylated on 'Tyr-1356'. Interacts with p130Cas/BCAR1. Interacts with CENTD3/ARAP3 via its SAM domain. Interacts with c-Cbl/CBL and CAP/SORBS1. Interacts with activated EPHA2 receptor. Interacts with receptors FCGR2A and FCGR2B. Interacts with tyrosine kinases ABL1 and TEC. Interacts with CSF1R 2020-06-12T23:07:03Z 2020-07-28T02:27:42Z 1 0 0 2323 CDBP02322 Excitatory amino acid transporter 4 P48664 EAA4_HUMAN false true Transporter Homo_sapiens SLC1A6 564 61564.9 9.54 Involved in sodium:dicarboxylate symporter activity Transports L-glutamate and also L- and D-aspartate. Seems to act as a symport by cotransporting sodium ["None"] ["56-76", "99-119", "133-153", "265-285", "306-326", "345-365", "370-390", "418-438", "460-480", "481-501"] U18244 SLC1A6 Chromosome:1 19p13.12 SLC1A6 HGNC:10944 true 2020-06-12T23:07:03Z 2020-07-28T02:32:10Z 0 0 0 2324 CDBP02323 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit DAD1 P61803 DAD1_HUMAN true false Enzyme Homo_sapiens DAD1 113 12496.55 7.076 Involved in dolichyl-diphosphooligosaccharide-protein g Essential subunit of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). Loss of the DAD1 protein triggers apoptosis (By similarity). AY259117 29501770 DAD1 14 14q11.2 DAD1 HGNC:2664 true hsa:1603 NP_001335.1:NM_001344.2 Component of the oligosaccharyltransferase (OST) complex. OST seems to exist in different forms which contain at least RPN1, RPN2, OST48, DAD1, OSTC, KRTCAP2 and either STT3A or STT3B. OST can form stable complexes with the Sec61 complex or with both the Sec61 and TRAP complexes 2020-06-12T23:07:03Z 2020-06-12T23:07:03Z 0 0 0 2325 CDBP02324 Cytochrome c oxidase subunit 8A, mitochondrial P10176 COX8A_HUMAN true false Enzyme Homo_sapiens COX8A 69 7579.0 10.83 Involved in cytochrome-c oxidase activity This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport ["None"] ["37-60"] J04823 COX8A Chromosome:1 11q12-q13 COX8A HGNC:2294 true 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2326 CDBP02325 Sodium/glucose cotransporter 2 P31639 SC5A2_HUMAN false true Transporter Homo_sapiens SLC5A2 672 72895.995 7.479 Involved in transporter activity Sodium-dependent glucose transporter. Has a Na(+) to glucose coupling ratio of 1:1. Efficient substrate transport in mammalian kidney is provided by the concerted action of a low affinity high capacity and a high affinity low capacity Na(+)/glucose cotransporter arranged in series along kidney proximal tubules. M95549 338053 SLC5A2 16 16p11.2 SLC5A2 HGNC:11037 true hsa:6524 NP_003032.1:NM_003041.3 2020-06-12T23:07:04Z 2020-07-28T02:32:10Z 0 0 0 2327 CDBP02326 Type II inositol 3,4-bisphosphate 4-phosphatase O15327 INP4B_HUMAN true false Enzyme Homo_sapiens INPP4B 924 104737.105 6.263 Involved in phosphatidyl-inositol-4,5-bisphosphate 4-ph Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4-trisphosphate and inositol 1,4-bisphosphate. NM_001101669.1 156104897 INPP4B 4 4q31.21 HGNC:6075 true hsa:8821 HS03227-MONOMER NP_001095139.1:NM_001101669.1;NP_003857.2:NM_003866.2 Widely expressed with highest levels occurring in the skeletal muscle and heart. 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2328 CDBP02327 Equilibrative nucleoside transporter 3 Q9BZD2 S29A3_HUMAN true true Enzyme Homo_sapiens SLC29A3 475 51799.9 7.85 Involved in nucleoside transmembrane transporter activity Mediates both influx and efflux of nucleosides across the membrane (equilibrative transporter). Mediates transport of adenine, adenosine and uridine, as well as several nucleoside analog drugs, such as anticancer and antiviral agents, including cladribine, cordycepin, tubercidin and AZT. Does not transport hypoxanthine ["None"] ["54-74", "106-126", "135-155", "163-183", "200-220", "231-251", "306-326", "338-358", "378-398", "416-436", "455-475"] AF326987 12656639 SLC29A3 Chromosome:1 10q22.1 SLC29A3 HGNC:23096 true 2020-06-12T23:07:04Z 2020-07-28T02:27:43Z 0 0 0 2329 CDBP02328 Beta-1,3-galactosyltransferase 6 Q96L58 B3GT6_HUMAN true false Enzyme Homo_sapiens B3GALT6 329 37137.08 9.66 Involved in galactosyltransferase activity Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-linked galactose residue. Has a preference for galactose-beta-1,4-xylose that is found in the linker region of glycosaminoglycans, such as heparan sulfate and chondroitin sulfate. Has no activity towards substrates with terminal glucosamine or galactosamine residues. AL162741 56206316 B3GALT6 1 1p36.33 B3GALT6 HGNC:17978 true hsa:126792 HS10991-MONOMER NP_542172.2:NM_080605.3 Ubiquitous. Manganese 2020-06-12T23:07:04Z 2020-07-28T02:27:43Z 0 0 0 2330 CDBP02329 Phosphatidylinositol-4-phosphate 5-kinase type-1 gamma O60331 PI51C_HUMAN true false Enzyme Homo_sapiens PIP5K1C 668 73259.3 4.94 Involved in phosphatidylinositol phosphate kinase activity Plays a role in membrane ruffling and assembly of clathrin-coated pits at the synapse. Mediates RAC1-dependent reorganization of actin filaments. Participates in the biosynthesis of phosphatidylinositol-4,5-bisphosphate ["None"] ["None"] NM_012398.2 31317309 PIP5K1C Chromosome:1 19p13.3 PIP5K1C HGNC:8996 true 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2331 CDBP02330 Cytochrome c oxidase subunit 6C P09669 COX6C_HUMAN true false Enzyme Homo_sapiens COX6C 75 8781.4 10.98 Involved in cytochrome-c oxidase activity This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport ["None"] ["14-54"] X13238 1200057 COX6C Chromosome:8 8q22.2 COX6C HGNC:2285 true 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2332 CDBP02331 Glycerol-3-phosphate acyltransferase 4 Q86UL3 GPAT4_HUMAN true false Enzyme Homo_sapiens AGPAT6 456 52070.605 9.187 Involved in acyltransferase activity Esterifies acyl-group from acyl-ACP to the sn-1 position of glycerol-3-phosphate, an essential step in glycerolipid biosynthesis. Active against both saturated and unsaturated long-chain fatty acyl-CoAs. AF406612 30142570 AGPAT6 8 8p11.21 AGPAT6 HGNC:20880 true hsa:137964 NP_848934.1:NM_178819.3 Ubiquitous. Relatively high level of expression in skeletal muscle, heart and testis. Relatively low level of expression in lung. 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2333 CDBP02332 Cytochrome c oxidase subunit 7A-related protein, mitochondrial O14548 COX7R_HUMAN true false Enzyme Homo_sapiens COX7A2L 114 12614.6 9.81 Involved in cytochrome-c oxidase activity May be a regulatory subunit of cytochrome c oxidase that mediates the higher level of energy production in target cells by estrogen ["None"] ["None"] AB007618 2465178 COX7A2L Chromosome:2 2p21 COX7A2L HGNC:2289 true 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2334 CDBP02333 CAD protein P27708 PYR1_HUMAN false false Metal Binding Homo_sapiens CAD 2225 242981.73 6.451 Involved in hydrolase activity This protein is a "fusion" protein encoding four enzymatic activities of the pyrimidine pathway (GATase, CPSase, ATCase and DHOase). D78586 1228049 CAD 2 2p22-p21 CAD HGNC:1424 true hsa:790 ENSG00000084774-MONOMER NP_004332.2:NM_004341.3 zinc ion (for dihydroorotase activity) Homohexamer 2020-06-12T23:07:04Z 2020-07-28T02:31:58Z 0 1 0 2335 CDBP02334 Cytochrome c oxidase subunit 8C, mitochondrial Q7Z4L0 COX8C_HUMAN true false Enzyme Homo_sapiens COX8C 72 8128.6 12.58 Involved in cytochrome-c oxidase activity This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport ["None"] ["41-64"] AY161004 33438742 COX8C Chromosome:1 14q32.12 COX8C HGNC:24382 true 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2336 CDBP02335 Heparan-sulfate 6-O-sulfotransferase 3 Q8IZP7 H6ST3_HUMAN true false Enzyme Homo_sapiens HS6ST3 471 54843.27 6.835 Involved in sulfotransferase activity 6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate (PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate. AF539426 23452527 HS6ST3 13 13q32.1 HS6ST3 HGNC:19134 true hsa:266722 MONOMER-15787 NP_703157.2:NM_153456.3;XP_003846618.1:XM_003846570.1 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2337 CDBP02336 Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) Q9UN76 S6A14_HUMAN false true Transporter Homo_sapiens SLC6A14 642 72152.1 8.27 Involved in neurotransmitter:sodium symporter activity Mediates the uptake of a broad range of neutral and cationic amino acids (with the exception of proline) in a Na(+)/Cl(-)-dependent manner ["None"] ["45-65", "72-92", "110-130", "235-255", "261-281", "315-335", "348-368", "399-419", "450-477", "480-500", "528-548", "563-583"] AF151978 SLC6A14 SLC6A14 HGNC:11047 true 2020-06-12T23:07:04Z 2020-07-28T02:32:10Z 0 0 0 2338 CDBP02337 Threonine synthase-like 1 Q8IYQ7 THNS1_HUMAN true false Enzyme Homo_sapiens THNSL1 743 83069.5 7.13 Involved in catalytic activity ["None"] ["None"] AK125249 THNSL1 Chromosome:1 10p12.1 THNSL1 HGNC:26160 true 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2339 CDBP02338 Phosphatidylinositol 4-kinase, catalytic, beta polypeptide Q9UBF8 Q5VWB9_HUMAN true false Enzyme Homo_sapiens PIK4CB 828 92726.0 6.27 AL391069 55663926 PIK4CB Chromosome:1 1q21 PIK4CB HGNC:8984 true 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2340 CDBP02339 Thioredoxin reductase 2 isoform 1 variant Q59ET7 Q59ET7_HUMAN true false Enzyme Homo_sapiens 511 55217.7 7.37 Involved in oxidoreductase activity ["None"] ["None"] AB209724 62089028 HGNC:18155 true 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2341 CDBP02340 Enoyl-CoA delta isomerase 1, mitochondrial P42126 D3D2_HUMAN true false Enzyme Homo_sapiens ECI1 302 30895.4 8.899 Involved in catalytic activity Able to isomerize both 3-cis and 3-trans double bonds into the 2-trans form in a range of enoyl-CoA species. 1SG4 Z25820 472987 DCI 16 16p13.3 DCI HGNC:2703 true hsa:1632 NP_001171500.1:NM_001178029.1;NP_001910.2:NM_001919.3 Homotrimer 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2342 CDBP02341 Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase Q5BKT4 AG10A_HUMAN true false Enzyme Homo_sapiens ALG10 473 55605.48 9.29 Involved in transferase activity, transferring hexosyl groups Adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc(2)Man(9)GlcNAc(2)-PP-Dol. AJ312278 14349125 ALG10 12 12p11.1 ALG10 HGNC:23162 true hsa:84920 NP_116223.3:NM_032834.3 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2343 CDBP02342 Sodium-coupled neutral amino acid transporter 2 Q96QD8 S38A2_HUMAN false false Enzyme Homo_sapiens SLC38A2 506 56025.4 8.12 Amino acid transport and metabolism Functions as a sodium-dependent amino acid transporter. Mediates the saturable, pH-sensitive and electrogenic cotransport of neutral amino acids and sodium ions with a stoichiometry of 1:1. May function in the transport of amino acids at the blood- brain barrier and in the supply of maternal nutrients to the fetus through the placenta ["None"] ["77-97", "103-123", "159-179", "189-209", "218-238", "293-313", "330-350", "372-392", "414-434", "437-457", "475-495"] AF259799 SLC38A2 Chromosome:1 12q SLC38A2 HGNC:13448 true 2020-06-12T23:07:04Z 2020-07-28T02:33:46Z 0 0 0 2344 CDBP02343 Sodium-coupled neutral amino acid transporter 1 Q9H2H9 S38A1_HUMAN false false Enzyme Homo_sapiens SLC38A1 487 54047.0 7.03 Amino acid transport and metabolism Functions as a sodium-dependent amino acid transporter. Mediates the saturable, pH-sensitive and electrogenic cotransport of glutamine and sodium ions with a stoichiometry of 1:1. May also transport small zwitterionic and aliphatic amino acids with a lower affinity. May supply glutamatergic and GABAergic neurons with glutamine which is required for the synthesis of the neurotransmitters glutamate and GABA ["None"] ["75-97", "113-133", "148-168", "189-211", "217-237", "276-296", "313-333", "351-371", "394-414", "417-437", "453-473"] NM_001077484.1 117168277 SLC38A1 Chromosome:1 12q13.11 SLC38A1 HGNC:13447 true 2020-06-12T23:07:04Z 2020-07-28T02:33:46Z 0 0 0 2345 CDBP02344 Sodium-coupled neutral amino acid transporter 5 Q8WUX1 S38A5_HUMAN false false Enzyme Homo_sapiens SLC38A5 472 51456.9 8.28 Amino acid transport and metabolism Functions as a sodium-dependent amino acid transporter which countertransport protons. Mediates the saturable, pH- sensitive, and electrogenic cotransport of several neutral amino acids including glycine, asparagine, alanine, serine, glutamine and histidine with sodium ["None"] ["49-71", "88-108", "126-146", "167-187", "193-213", "258-278", "296-316", "335-355", "377-397", "400-420", "440-460"] NM_033518.2 193788624 SLC38A5 SLC38A5 HGNC:18070 true 2020-06-12T23:07:04Z 2020-07-28T02:33:46Z 0 0 0 2346 CDBP02345 Isoaspartyl peptidase/L-asparaginase Q7L266 ASGL1_HUMAN true false Enzyme Homo_sapiens ASRGL1 308 32054.325 6.241 Involved in hydrolase activity Has both L-asparaginase and beta-aspartyl peptidase activity. May be involved in the production of L-aspartate, which can act as an excitatory neurotransmitter in some brain regions. Is highly active with L-Asp beta-methyl ester. Besides, has catalytic activity toward beta-aspartyl dipeptides and their methyl esters, including beta-L-Asp-L-Phe, beta-L-Asp-L-Phe methyl ester (aspartame), beta-L-Asp-L-Ala, beta-L-Asp-L-Leu and beta-L-Asp-L-Lys. Does not have aspartylglucosaminidase activity and is inactive toward GlcNAc-L-Asn. Likewise, has no activity toward glutamine. 3TKJ;4ET0;4GDT;4GDU;4GDV;4GDW AF411076 20799290 ASRGL1 11 11q12.3 ASRGL1 HGNC:16448 true hsa:80150 NP_001077395.1:NM_001083926.1;NP_079356.3:NM_025080.3 Expressed in brain, kidney, testis and tissues of the gastrointestinal tract. Present in sperm (at protein level). Over-expressed in uterine, mammary, prostatic and ovarian carcinoma. Heterodimer of an alpha and beta chain produced by autocleavage. This heterodimer may then dimerize in turn, giving rise to a heterotetramer 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2347 CDBP02346 Choline/ethanolaminephosphotransferase 1 Q9Y6K0 CEPT1_HUMAN true false Enzyme Homo_sapiens CEPT1 416 46553.135 8.201 Involved in phosphotransferase activity, for other substituted phosphate groups Catalyzes both phosphatidylcholine and phosphatidylethanolamine biosynthesis from CDP-choline and CDP-ethanolamine, respectively. Involved in protein-dependent process of phospholipid transport to distribute phosphatidyl choline to the lumenal surface. Has a higher cholinephosphotransferase activity than ethanolaminephosphotransferase activity. AF068302 4584877 CEPT1 1 1p13.3 CEPT1 HGNC:24289 true hsa:10390 NP_001007795.1:NM_001007794.1;NP_006081.1:NM_006090.3 Ubiquitously expressed. Magnesium or manganese 2020-06-12T23:07:04Z 2020-07-28T02:27:44Z 0 1 0 2348 CDBP02347 Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 Q969X2 SIA7F_HUMAN true false Enzyme Homo_sapiens ST6GALNAC6 333 38067.3 10.29 Involved in sialyltransferase activity Alpha-2,6-sialyltransferase involved in the synthesis of alpha-series gangliosides. Has activity toward GD1a, GT1b and GM1b. Has no activity toward glycoproteins. Responsible for the biosynthesis of DSGG (disialylgalactosylgloboside) from MSGG (monosialylgalactosylgloboside) in normal and malignant kidney. Participates in the synthesis of disialyl Lewis a (Le(a)), a representative tumor-associated antigen in cancers of the pancreas and colon, in colon tissues ["None"] ["44-64"] NM_013443.3 21361444 ST6GALNAC6 Chromosome:9 9q34.11 ST6GALNAC6 HGNC:23364 true 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2349 CDBP02348 Cardiolipin synthase Q9UJA2 CRLS1_HUMAN true false Enzyme Homo_sapiens CRLS1 301 22583.205 8.683 Involved in phosphotransferase activity, for other substituted phosphate groups Catalyzes the reversible phosphatidyl group transfer from one phosphatidylglycerol molecule to another to form cardiolipin (CL) (diphosphatidylglycerol) and glycerol. AF241784 12005485 CRLS1 20 20p13-p12.3 CRLS1 HGNC:16148 true hsa:54675 NP_001120930.1:NM_001127458.1;NP_061968.1:NM_019095.4 Highly expressed in tissues such as heart, skeletal muscle and liver. 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2350 CDBP02349 CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial Q32NB8 PGPS1_HUMAN true false Enzyme Homo_sapiens PGS1 556 62729.745 8.897 Involved in phosphotransferase activity, for other substituted phosphate groups Functions in the biosynthesis of the anionic phospholipids phosphatidylglycerol and cardiolipin (By similarity). AK316147 PGS1 17 17q25.3 PGS1 HGNC:30029 true hsa:9489 HS01560-MONOMER NP_077733.3:NM_024419.3 2020-06-12T23:07:04Z 2020-07-28T02:27:44Z 0 0 0 2351 CDBP02350 Low affinity cationic amino acid transporter 2 P52569 CTR2_HUMAN true true Enzyme Homo_sapiens SLC7A2 658 71672.2 7.31 Involved in transport Low-affinity, high capacity permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine). Plays a regulatory role in classical or alternative activation of macrophages ["None"] ["38-59", "64-84", "105-125", "164-184", "193-213", "249-269", "290-309", "340-360", "387-407", "411-431", "491-511", "525-549", "558-578", "583-603"] NM_001008539.3 258614005 SLC7A2 Chromosome:8 8p22-p21.3 SLC7A2 HGNC:11060 true 2020-06-12T23:07:04Z 2020-07-28T02:27:44Z 0 0 0 2352 CDBP02351 Ethanolamine-phosphate phospho-lyase Q8TBG4 AT2L1_HUMAN true false Enzyme Homo_sapiens AGXT2L1 499 55039.64 8.14 Involved in transaminase activity Catalyzes the pyridoxal-phosphate-dependent breakdown of phosphoethanolamine, converting it to ammonia, inorganic phosphate and acetaldehyde. AC097473 63992119 AGXT2L1 4 4q25 AGXT2L1 HGNC:14404 true hsa:64850 NP_001140062.1:NM_001146590.1;NP_001140099.1:NM_001146627.1;NP_112569.2:NM_031279.3 Pyridoxal phosphate Homotetramer 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2353 CDBP02352 L-lactate dehydrogenase B chain P07195 LDHB_HUMAN true false Enzyme Homo_sapiens LDHB 334 36638.225 6.052 Involved in oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor 1I0Z;1T2F Y00711 34329 LDHB 12 12p12.2-p12.1 LDHB HGNC:6541 true hsa:3945 NP_001167568.1:NM_001174097.1;NP_002291.1:NM_002300.6 Homotetramer 2020-06-12T23:07:04Z 2020-07-28T02:27:44Z 0 0 0 2354 CDBP02353 L-lactate dehydrogenase C chain P07864 LDHC_HUMAN true false Enzyme Homo_sapiens LDHC 332 36310.965 7.46 Involved in oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor Possible role in sperm motility. J02938 307120 LDHC 11 11p15.1 LDHC HGNC:6544 true hsa:3948 NP_002292.1:NM_002301.4;NP_059144.1:NM_017448.3 Homotetramer 2020-06-12T23:07:04Z 2020-07-28T02:27:44Z 0 0 0 2355 CDBP02354 L-lactate dehydrogenase A chain P00338 LDHA_HUMAN true false Enzyme Homo_sapiens LDHA 332 30204.975 7.151 Involved in oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor 1I10;4AJP X02152 34313 LDHA 11 11p15.4 LDHA HGNC:6535 true hsa:3939 NP_001128711.1:NM_001135239.1;NP_001158886.1:NM_001165414.1;NP_001158887.1:NM_001165415.1;NP_001158888.1:NM_001165416.1;NP_005557.1:NM_005566.3 Homotetramer 2020-06-12T23:07:04Z 2020-07-28T02:27:44Z 0 0 0 2356 CDBP02355 L-lactate dehydrogenase A-like 6B Q9BYZ2 LDH6B_HUMAN true false Enzyme Homo_sapiens LDHAL6B 381 41942.53 8.653 Involved in oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor AY009108 LDHAL6B 15 15q22.2 LDHAL6B HGNC:21481 true hsa:92483 NP_149972.1:NM_033195.2 Testis specific. 2020-06-12T23:07:04Z 2020-07-28T02:27:44Z 0 0 0 2357 CDBP02356 Probable D-lactate dehydrogenase, mitochondrial Q86WU2 LDHD_HUMAN true false Enzyme Homo_sapiens LDHD 507 54870.18 6.658 Involved in catalytic activity NM_153486.2 37595754 LDHD 16 16q23.1 LDHD HGNC:19708 true hsa:197257 HS15490-MONOMER NP_705690.2:NM_153486.3;NP_919417.1:NM_194436.2 Expressed moderately in heart and liver and at lower levels in skeletal muscle and kidney. FAD Interacts with CSRP3 2020-06-12T23:07:04Z 2020-07-28T02:27:44Z 0 0 0 2358 CDBP02357 Proton-coupled amino acid transporter 1 Q7Z2H8 S36A1_HUMAN false true Transporter Homo_sapiens SLC36A1 476 53075.0 7.0 Amino acid transport and metabolism Neutral amino acid/proton symporter. Has a pH-dependent electrogenic transport activity for small amino acids such as glycine, alanine and proline. Besides small apolar L-amino acids, it also recognize their D-enantiomers and selected amino acid derivatives such as gamma-aminobutyric acid ["None"] ["52-72", "79-99", "142-162", "191-211", "216-236", "258-278", "290-310", "343-363", "373-393", "398-418", "440-460"] AY162213 SLC36A1 Chromosome:5 5q33.1 SLC36A1 HGNC:18761 true 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2359 CDBP02358 Vesicular inhibitory amino acid transporter Q9H598 VIAAT_HUMAN true false Enzyme Homo_sapiens SLC32A1 525 57414.6 6.63 Amino acid transport and metabolism Involved in the uptake of GABA and glycine into the synaptic vesicles ["None"] ["134-154", "205-225", "243-263", "266-286", "306-326", "342-362", "384-404", "439-459", "462-482", "490-510"] AY044836 SLC32A1 Chromosome:2 20q11.23 SLC32A1 HGNC:11018 true 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2360 CDBP02359 Trimethyllysine dioxygenase, mitochondrial Q9NVH6 TMLH_HUMAN true false Enzyme Homo_sapiens TMLHE 421 44048.895 7.448 Involved in oxidation reduction Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML). AF373407 TMLHE X Xq28 TMLHE HGNC:18308 true hsa:55217 NP_001171726.1:NM_001184797.1;NP_060666.1:NM_018196.3 All isoforms, but isoform 8, are widely expressed in adult and fetal tissues. Isoform 8 is restricted to heart and skeletal muscle. Fe(2+) ion;Ascorbate Homodimer 2020-06-12T23:07:04Z 2020-07-28T02:27:44Z 0 1 0 2361 CDBP02360 Alanine aminotransferase 2 Q8TD30 ALAT2_HUMAN true false Enzyme Homo_sapiens GPT2 523 46982.6 6.301 Involved in transferase activity, transferring nitrogenous groups Catalyzes the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and glutamate. 3IHJ AY029173 19046894 GPT2 16 16q12.1 GPT2 HGNC:18062 true hsa:84706 HS09332-MONOMER NP_001135938.1:NM_001142466.1;NP_597700.1:NM_133443.2 Expressed at high levels in muscle, adipose tissue, kidney and brain and at lower levels in the liver and breast. Pyridoxal phosphate Homodimer 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2362 CDBP02361 Putative N-acetylglucosamine-6-phosphate deacetylase Q9Y303 NAGA_HUMAN true false Enzyme Homo_sapiens AMDHD2 409 63594.415 7.526 Involved in hydrolase activity Hydrolyzes the N-glycolyl group from N-glycolylglucosamine 6-phosphate (GlcNGc-6-P) in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway. Although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded. 21361513 AMDHD2 16 16p13.3 AMDHD2 HGNC:24262 true hsa:51005 NP_001139287.1:NM_001145815.1;NP_057028.2:NM_015944.3 divalent metal cation 2020-06-12T23:07:04Z 2020-07-28T02:27:45Z 0 1 0 2363 CDBP02362 4-hydroxybenzoate polyprenyltransferase, mitochondrial Q96H96 COQ2_HUMAN true false Enzyme Homo_sapiens COQ2 371 45593.67 9.586 Involved in prenyltransferase activity Catalyzes the prenylation of para-hydroxybenzoate (PHB) with an all-trans polyprenyl group. Mediates the second step in the final reaction sequence of coenzyme Q (CoQ) biosynthesis, which is the condensation of the polyisoprenoid side chain with PHB. BC008804 14250676 COQ2 4 4q21.23 COQ2 HGNC:25223 true hsa:27235 ENSG00000173085-MONOMER NP_056512.5:NM_015697.7 Widely expressed. Present in all of the tissues tested. Expressed at higher level in skeletal muscle, adrenal glands and the heart. 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2364 CDBP02363 Mannose-1-phosphate guanyltransferase beta Q9Y5P6 GMPPB_HUMAN true false Enzyme Homo_sapiens GMPPB 360 42649.34 6.45 Involved in transferase activity AF135421 5052351 GMPPB 3 3p21.31 GMPPB HGNC:22932 true hsa:29925 NP_037466.2:NM_013334.2;NP_068806.1:NM_021971.1 2020-06-12T23:07:04Z 2020-07-28T02:27:45Z 0 0 0 2365 CDBP02364 Mannose-1-phosphate guanyltransferase alpha Q96IJ6 GMPPA_HUMAN true false Enzyme Homo_sapiens GMPPA 420 46290.785 7.216 Involved in transferase activity AC053503 62822505 GMPPA 2 2q35 GMPPA HGNC:22923 true hsa:29926 NP_037467.2:NM_013335.3;NP_995319.1:NM_205847.2 2020-06-12T23:07:04Z 2020-07-28T02:27:45Z 0 0 0 2366 CDBP02365 Phosphoglucomutase-2 Q96G03 PGM2_HUMAN true false Enzyme Homo_sapiens PGM2 612 68282.765 6.722 Involved in intramolecular transferase activity, phosphotransferases Catalyzes the conversion of the nucleoside breakdown products ribose-1-phosphate and deoxyribose-1-phosphate to the corresponding 5-phosphopentoses. May also catalyze the interconversion of glucose-1-phosphate and glucose-6-phosphate. Has low glucose 1,6-bisphosphate synthase activity. AF109360 33337743 PGM2 4 4p14 PGM2 HGNC:8906 true hsa:55276 HS09924-MONOMER NP_060760.2:NM_018290.3 magnesium ion 2020-06-12T23:07:04Z 2020-07-28T02:27:45Z 0 1 0 2367 CDBP02366 Cytosolic purine 5'-nucleotidase P49902 5NTC_HUMAN true false Enzyme Homo_sapiens NT5C2 561 64969.2 6.134 Involved in 5'-nucleotidase activity May have a critical role in the maintenance of a constant composition of intracellular purine/pyrimidine nucleotides in cooperation with other nucleotidases. Preferentially hydrolyzes inosine 5'-monophosphate (IMP) and other purine nucleotides. 2J2C;2JC9;2JCM;2XCV;2XCW;2XCX;2XJB;2XJC;2XJD;2XJE;2XJF;4H4B D38524 NT5C2 10 10q24.32 NT5C2 HGNC:8022 true hsa:22978 HS01216-MONOMER NP_001127845.1:NM_001134373.2;NP_036361.1:NM_012229.4 magnesium ion Homotetramer 2020-06-12T23:07:04Z 2020-07-28T02:27:45Z 0 1 0 2368 CDBP02367 Purine nucleoside phosphorylase P00491 PNPH_HUMAN true false Enzyme Homo_sapiens PNP 289 32117.69 6.943 Involved in purine-nucleoside phosphorylase activity The purine nucleoside phosphorylases catalyze the phosphorolytic breakdown of the N-glycosidic bond in the beta-(deoxy)ribonucleoside molecules, with the formation of the corresponding free purine bases and pentose-1-phosphate. 1M73;1PF7;1PWY;1RCT;1RFG;1RR6;1RSZ;1RT9;1ULA;1ULB;1V2H;1V3Q;1V41;1V45;1YRY;2A0W;2A0X;2A0Y;2OC4;2OC9;2ON6;2Q7O;3BGS;3D1V;3GB9;3GGS;3INY;3K8O;3K8Q;3PHB X00737 35565 PNP 14 14q13.1 PNP HGNC:7892 true hsa:4860 HS02151-MONOMER NP_000261.2:NM_000270.3 Expressed in red blood cells; overexpressed in red blood cells (cytoplasm) of patients with hereditary non-spherocytic hemolytic anemia of unknown etiology. Homotrimer 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2369 CDBP02368 Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1 Q92835 SHIP1_HUMAN true false Enzyme Homo_sapiens INPP5D 1189 133291.4 7.589 Involved in inositol or phosphatidylinositol phosphatase activity Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3) to produce PtdIns(3,4)P2, thereby negatively regulating the PI3K (phosphoinositide 3-kinase) pathways. Acts as a negative regulator of B-cell antigen receptor signaling. Mediates signaling from the FC-gamma-RIIB receptor (FCGR2B), playing a central role in terminating signal transduction from activating immune/hematopoietic cell receptor systems. Acts as a negative regulator of myeloid cell proliferation/survival and chemotaxis, mast cell degranulation, immune cells homeostasis, integrin alpha-IIb/beta-3 signaling in platelets and JNK signaling in B-cells. Regulates proliferation of osteoclast precursors, macrophage programming, phagocytosis and activation and is required for endotoxin tolerance. Involved in the control of cell-cell junctions, CD32a signaling in neutrophils and modulation of EGF-induced phospholipase C activity. Key regulator of neutrophil migration, by governing the formation of the leading edge and polarization required for chemotaxis. Modulates FCGR3/CD16-mediated cytotoxicity in NK cells. Mediates the activin/TGF-beta-induced apoptosis through its Smad-dependent expression. May also hydrolyze PtdIns(1,3,4,5)P4, and could thus affect the levels of the higher inositol polyphosphates like InsP6. 2YSX NM_001017915.1 64085167 INPP5D 2 2q37.1 INPP5D HGNC:6079 true hsa:3635 HS09849-MONOMER NP_001017915.1:NM_001017915.1;NP_005532.2:NM_005541.3 Specifically expressed in immune and hematopoietic cells. Expressed in bone marrow and blood cells. Levels vary considerably within this compartment. Present in at least 74% of immature CD34+ cells, whereas within the more mature population of CD33+ cells, it is present in only 10% of cells. Present in the majority of T-cells, while it is present in a minority of B-cells (at protein level). Interacts with tyrosine phosphorylated forms of SHC1, DOK1, DOK3, PTPN11/SHP-2, SLAMF1/CD150. Interacts with PTPN11 in response to IL-3. Interacts with receptors EPOR, MS4A2/FCER1B and FCER1G, FCGR2A, FCGR2B and FCGR3. Interacts with GRB2 and PLCG1. Interacts with tyrosine kinases SRC and TEC. Interacts with FCGR2A, leading to regulate gene expression during the phagocytic process. Interacts with c-Met/MET . Interacts with MILR1 (tyrosine-phosphorylated). Can weakly interact (via NPXY motif 2) with DAB2 (via PID domain); the interaction is impaired by tyrosine phosphorylation of the NPXY motif (By similarity) 2020-06-12T23:07:04Z 2020-07-28T02:27:46Z 1 0 0 2370 CDBP02369 Solute carrier family 28 member 3 Q9HAS3 S28A3_HUMAN false true Transporter Homo_sapiens SLC28A3 691 76929.6 7.67 Involved in nucleoside:sodium symporter activity Sodium-dependent, pyrimidine- and purine-selective. Involved in the homeostasis of endogenous nucleosides. Exhibits the transport characteristics of the nucleoside transport system cib or N3 subtype (N3/cib) (with marked transport of both thymidine and inosine). Employs a 2:1 sodium/nucleoside ratio. Also able to transport gemcitabine, 3'-azido-3'-deoxythymidine (AZT), ribavirin and 3-deazauridine ["None"] ["103-123", "128-148", "171-191", "201-221", "224-244", "288-308", "315-335", "362-382", "389-409", "444-464", "480-500", "554-574", "594-614"] AF305210 SLC28A3 Chromosome:9 9q22.2 SLC28A3 HGNC:16484 true 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2371 CDBP02370 Thymidine kinase, cytosolic P04183 KITH_HUMAN true false Enzyme Homo_sapiens TK1 234 25468.455 8.51 Nucleotide transport and metabolism 1W4R;1XBT;2ORV;2WVJ K02581 339709 TK1 17 17q23.2-q25.3 TK1 HGNC:11830 true hsa:7083 NP_003249.3:NM_003258.4 Homotetramer 2020-06-12T23:07:04Z 2020-07-28T02:27:46Z 0 1 0 2372 CDBP02371 Thymidine kinase 2, mitochondrial O00142 KITM_HUMAN true false Enzyme Homo_sapiens TK2 265 27561.495 6.849 Involved in ATP binding Deoxyribonucleoside kinase that phosphorylates thymidine, deoxycytidine, and deoxyuridine. Also phosphorylates anti-viral and anti-cancer nucleoside analogs. NM_004614.4 290656936 TK2 16 16q22-q23.1 TK2 HGNC:11831 true hsa:7084 NP_001166114.1:NM_001172643.1;NP_001166115.1:NM_001172644.1;NP_004605.4:NM_004614.4 Predominantly expressed in liver, pancreas, muscle, and brain. Monomer 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2373 CDBP02372 Thymidine phosphorylase P19971 TYPH_HUMAN true false Enzyme Homo_sapiens TYMP 482 49954.965 5.53 Involved in transferase activity, transferring glycosyl groups May have a role in maintaining the integrity of the blood vessels. Has growth promoting activity on endothelial cells, angiogenic activity in vivo and chemotactic activity on endothelial cells in vitro. Catalyzes the reversible phosphorolysis of thymidine. The produced molecules are then utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis. 1UOU;2J0F;2WK5;2WK6 M63193 TYMP 22 22q13.33 TYMP HGNC:3148 true hsa:1890 NP_001107227.1:NM_001113755.2;NP_001107228.1:NM_001113756.2;NP_001244917.1:NM_001257988.1;NP_001244918.1:NM_001257989.1;NP_001944.1:NM_001953.4 Homodimer 2020-06-12T23:07:04Z 2020-07-28T02:27:46Z 1 0 0 2374 CDBP02373 Hydroxyacid-oxoacid transhydrogenase, mitochondrial Q8IWW8 HOT_HUMAN true false Enzyme Homo_sapiens ADHFE1 467 50307.42 7.762 Involved in oxidoreductase activity Catalyzes the cofactor-independent reversible oxidation of gamma-hydroxybutyrate (GHB) to succinic semialdehyde (SSA) coupled to reduction of 2-ketoglutarate (2-KG) to D-2-hydroxyglutarate (D-2-HG). D,L-3-hydroxyisobutyrate and L-3-hydroxybutyrate (L-3-OHB) are also substrates for HOT with 10-fold lower activities. AY033237 ADHFE1 8 8q13.1 ADHFE1 HGNC:16354 true hsa:137872 NP_653251.2:NM_144650.2 Only expressed in adult liver. 2020-06-12T23:07:04Z 2020-07-28T02:27:46Z 0 1 0 2375 CDBP02374 Pyridoxal phosphate phosphatase Q96GD0 PLPP_HUMAN true false Enzyme Homo_sapiens PDXP 296 31697.735 6.544 Involved in catalytic activity Protein serine phosphatase that dephosphorylates 'Ser-3' in cofilin and probably also dephosphorylates phospho-serine residues in DSTN. Regulates cofilin-dependent actin cytoskeleton reorganization. Required for normal progress through mitosis and normal cytokinesis. Does not dephosphorylate phospho-threonines in LIMK1. Does not dephosphorylate peptides containing phospho-tyrosine. Pyridoxal phosphate phosphatase. Has some activity towards pyridoxal 5'-phosphate (PLP), pyridoxine 5'-phosphate (PMP) and pyridoxine 5'-phosphate (PNP), with a highest activity with PLP followed by PNP. 2CFR;2CFS;2CFT;2OYC;2P27;2P69 AY125047 PDXP 22 22q12.3 PDXP HGNC:30259 true hsa:57026 NP_064711.1:NM_020315.4 Ubiquitous. Highly expressed in all the regions of central nerve system except the spinal cord. Also expressed at high level in liver and testis. In fetus, it is weakly expressed in all organs except brain. Divalent ions. Magnesium is the most effective Homodimer 2020-06-12T23:07:04Z 2020-07-28T02:27:46Z 0 1 0 2376 CDBP02375 Chromaffin granule amine transporter P54219 VMAT1_HUMAN true true Enzyme Homo_sapiens SLC18A1 525 56258.0 Carbohydrate transport and metabolism Involved in the vesicular transport of biogenic amines ["1-39"] ["22-42", "139-158", "168-188", "198-218", "228-250", "257-279", "300-319", "336-360", "366-386", "398-418", "423-443", "449-470"] U39905 1314290 SLC18A1 Chromosome:8 8p21.3 SLC18A1 HGNC:10934 true 2020-06-12T23:07:04Z 2020-07-28T02:27:46Z 0 0 0 2377 CDBP02376 Lengsin Q5TDP6 LGSN_HUMAN true false Enzyme Homo_sapiens LGSN 509 57277.5 6.3 Involved in glutamate-ammonia ligase activity May act as a component of the cytoskeleton or as a chaperone for the reorganization of intermediate filament proteins during terminal differentiation in the lens. Does not seem to have enzymatic activity ["None"] ["None"] AF242388 7341339 LGSN Chromosome:6 6pter-q22.33 LGSN HGNC:21016 true 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2378 CDBP02377 ADP/ATP translocase 1 P12235 ADT1_HUMAN true true Enzyme Homo_sapiens SLC25A4 298 33064.3 10.27 Involved in transporter activity Catalyzes the exchange of ADP and ATP across the mitochondrial inner membrane ["None"] ["5-39", "75-100", "109-143", "176-202", "207-241", "273-298"] 1OKC BC008664 14250454 SLC25A4 Chromosome:4 4q35 SLC25A4 HGNC:10990 true 2020-06-12T23:07:04Z 2020-07-28T02:27:46Z 0 0 0 2379 CDBP02378 ADP/ATP translocase 2 P05141 ADT2_HUMAN true true Enzyme Homo_sapiens SLC25A5 298 32895.0 10.23 Involved in transporter activity Catalyzes the exchange of ADP and ATP across the mitochondrial inner membrane ["None"] ["5-39", "75-100", "109-143", "176-202", "207-241", "273-298"] 1OKC AC004000 2772564 SLC25A5 SLC25A5 HGNC:10991 true 2020-06-12T23:07:04Z 2020-07-28T02:27:46Z 0 0 0 2380 CDBP02379 ADP/ATP translocase 3 P12236 ADT3_HUMAN true true Enzyme Homo_sapiens SLC25A6 298 32866.0 10.26 Involved in transporter activity Catalyzes the exchange of ADP and ATP across the mitochondrial inner membrane. May participate in the formation of the permeability transition pore complex (PTPC) responsible for the release of mitochondrial products that triggers apoptosis ["None"] ["5-39", "75-100", "109-143", "176-202", "207-241", "273-298"] 1OKC AY007135 SLC25A6 SLC25A6 HGNC:10992 true 2020-06-12T23:07:04Z 2020-07-28T02:27:46Z 0 0 0 2381 CDBP02380 Vesicular glutamate transporter 3 Q8NDX2 VGLU3_HUMAN false true Transporter Homo_sapiens SLC17A8 589 59076.69 5.94 Involved in transmembrane transport Mediates the uptake of glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells. May also mediate the transport of inorganic phosphate. AJ459241 21213895 SLC17A8 12 12q23.1 SLC17A8 HGNC:20151 true hsa:246213 NP_001138760.1:NM_001145288.1;NP_647480.1:NM_139319.2 Expressed in amygdala, cerebellum, hippocampus, medulla, spinal cord and thalamus. 2020-06-12T23:07:04Z 2020-07-28T02:32:10Z 0 0 0 2382 CDBP02381 Vesicular glutamate transporter 2 Q9P2U8 VGLU2_HUMAN false true Transporter Homo_sapiens SLC17A6 582 64391.935 7.044 Involved in transmembrane transport Mediates the uptake of glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells. May also mediate the transport of inorganic phosphate. AB032435 7328923 SLC17A6 11 11p14.3 SLC17A6 HGNC:16703 true hsa:57084 NP_065079.1:NM_020346.2 Predominantly expressed in adult brain. Expressed in amygdala, caudate nucleus, cerebral cortex, frontal lobe, hippocampus, medulla, occipital lobe, putamen, spinal cord, substantia nigra, subthalamic nucleus, temporal lobe and thalamus. 2020-06-12T23:07:04Z 2020-07-28T02:32:10Z 0 0 0 2383 CDBP02382 Vesicular glutamate transporter 1 Q9P2U7 VGLU1_HUMAN false true Transporter Homo_sapiens SLC17A7 560 61612.845 7.475 Involved in transmembrane transport Mediates the uptake of glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells. May also mediate the transport of inorganic phosphate. AB032436 7328925 SLC17A7 19 19q13 SLC17A7 HGNC:16704 true hsa:57030 NP_064705.1:NM_020309.3 Expressed in several regions of the brain including amygdala, cerebellum, cerebral cortex, hippocampus, frontal lobe, medulla, occipital lobe, putamen and temporal lobe. 2020-06-12T23:07:04Z 2020-07-28T02:32:10Z 0 0 0 2384 CDBP02383 Multidrug resistance-associated protein 4 O15439 MRP4_HUMAN false true Transporter Homo_sapiens ABCC4 1325 149525.3 8.31 Involved in ATP binding May be an organic anion pump relevant to cellular detoxification ["None"] ["93-113", "136-156", "207-227", "228-248", "328-348", "351-371", "440-460", "710-730", "771-791", "836-856", "858-878", "954-974", "977-997", "1038-1058"] AF071202 3335173 ABCC4 Chromosome:1 13q32 ABCC4 HGNC:55 true 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2385 CDBP02384 Multidrug resistance-associated protein 5 O15440 MRP5_HUMAN false true Transporter Homo_sapiens ABCC5 1437 160658.8 8.89 Involved in ATP binding Acts as a multispecific organic anion pump which can transport nucleotide analogs ["None"] ["179-199", "219-239", "296-316", "317-337", "400-420", "434-454", "608-628", "848-868", "917-937", "997-1017", "1018-1038", "1104-1124", "1127-1147"] NM_005688.2 66529005 ABCC5 Chromosome:3 3q27 ABCC5 HGNC:56 true 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2386 CDBP02385 Methionine adenosyltransferase 2 subunit beta Q9NZL9 MAT2B_HUMAN true false Enzyme Homo_sapiens MAT2B 334 Involved in dTDP-4-dehydrorhamnose reductase activity Non-catalytic regulatory subunit of S-adenosylmethionine synthetase 2 (MAT2A), an enzyme that catalyzes the formation of S-adenosylmethionine from methionine and ATP. Regulates the activity of S-adenosylmethionine synthetase 2 by changing its kinetic properties, rendering the enzyme more susceptible to S-adenosylmethionine inhibition. 2YDX;2YDY AF182814 MAT2B MAT2B HGNC:6905 true hsa:27430 NP_037415.1:NM_013283.4;NP_877725.1:NM_182796.2 Widely expressed. Heterotetramer composed of 2 catalytic alpha subunits (alpha and alpha') (MAT2A) and 1 copy of beta subunit (MAT2B) 2020-06-12T23:07:04Z 2020-07-28T02:27:47Z 0 0 0 2387 CDBP02386 Phosphatidylinositol 3-kinase regulatory subunit alpha P27986 P85A_HUMAN true false Enzyme Homo_sapiens PIK3R1 724 83597.7 6.06 Involved in phosphoinositide 3-kinase regulator activity Binds to activated (phosphorylated) protein-Tyr kinases, through its SH2 domain, and acts as an adapter, mediating the association of the p110 catalytic unit to the plasma membrane. Necessary for the insulin-stimulated increase in glucose uptake and glycogen synthesis in insulin-sensitive tissues ["None"] ["None"] 1PBW NM_181523.1 32455248 PIK3R1 Chromosome:5 5q13.1 PIK3R1 HGNC:8979 true 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2388 CDBP02387 Phosphatidylinositol 3-kinase regulatory subunit gamma Q92569 P55G_HUMAN true false Enzyme Homo_sapiens PIK3R3 461 54462.1 6.02 Involved in phosphoinositide 3-kinase regulator activity Binds to activated (phosphorylated) protein-tyrosine kinases through its SH2 domain and regulates their kinase activity. During insulin stimulation, it also binds to IRS-1 ["None"] ["None"] 1FU6 D88532 PIK3R3 Chromosome:1 1p34.1 PIK3R3 HGNC:8981 true 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2389 CDBP02388 Phosphatidylinositol 3-kinase regulatory subunit beta O00459 P85B_HUMAN true false Enzyme Homo_sapiens PIK3R2 728 81623.7 6.48 Involved in phosphoinositide 3-kinase regulator activity Binds to activated (phosphorylated) protein-tyrosine kinases, through its SH2 domain, and acts as an adapter, mediating the association of the p110 catalytic unit to the plasma membrane ["None"] ["None"] X80907 2160048 PIK3R2 Chromosome:1 19q13.2-q13.4 PIK3R2 HGNC:8980 true 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2390 CDBP02389 Hematopoietic cell signal transducer Q9UBK5 HCST_HUMAN false false Enzyme Homo_sapiens HCST 93 9489.0 8.51 Transmembrane adapter protein which associates with NKG2D to form an activation receptor NKG2D-HCST in lymphoid and myeloid cells; this receptor plays a major role in triggering cytotoxicity against target cells expressing cell surface ligands such as MHC class I chain-related MICA and MICB, and UL16-binding proteins (ULBPs); these ligands are up-regulated by stress conditions and pathological state such as viral infection and tumor transformation. Functions as docking site for PI3-kinase PIK3R1 and GRB2. Interaction of ULBPs with NKG2D-DAP10 triggers calcium mobilization and activation of the PIK3R1, MAP2K/ERK, and JAK2/STAT5 signaling pathways. Both PIK3R1 and GRB2 are required for full NKG2D-HCST-mediated activation and ultimate killing of target cells. In NK cells, NKG2D-HCST signaling directly induces cytotoxicity and enhances cytokine production initiated via DAP12/TYROBP-associated receptors. In T cells, it provides primarily costimulation for TCR-induced signals. NKG2D-HCST receptor plays a role in immune surveillance against tumors and is required for cytolysis of tumors cells; indeed, melanoma cells that do not express NKG2D ligands escape from immune surveillance mediated by NK cells ["1-18"] ["49-69"] NM_014266.3 15826850 HCST Chromosome:1 19q13.1 HCST HGNC:16977 true 2020-06-12T23:07:04Z 2020-07-28T02:33:47Z 0 0 0 2391 CDBP02390 Phosphatidylinositol 3-kinase catalytic subunit type 3 Q8NEB9 PK3C3_HUMAN true false Enzyme Homo_sapiens PIK3C3 887 101548.6 6.79 Involved in binding Catalytic subunit of the PI3K complex. Involved in the transport of lysosomal enzyme precursors to lysosomes ["None"] ["None"] Z46973 987948 PIK3C3 Chromosome:1 18q12.3 PIK3C3 HGNC:8974 true 2020-06-12T23:07:04Z 2020-07-28T02:27:47Z 0 0 0 2392 CDBP02391 V-type proton ATPase subunit H Q9UI12 VATH_HUMAN true true Enzyme Homo_sapiens ATP6V1H 483 55882.7 6.44 Involved in binding Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit H activates the ATPase activity of the enzyme and couples ATPase activity to proton flow. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system. Involved in the endocytosis mediated by clathrin-coated pits, required for the formation of endosomes ["None"] ["None"] AF112204 6563196 ATP6V1H Chromosome:8 8q11.2 ATP6V1H HGNC:18303 true 2020-06-12T23:07:04Z 2020-07-28T02:27:47Z 0 0 0 2393 CDBP02392 V-type proton ATPase subunit D Q9Y5K8 VATD_HUMAN true true Enzyme Homo_sapiens ATP6V1D 247 28262.5 10.01 Involved in ATPase activity, coupled to transmembrane movement of substances Subunit of the peripheral V1 complex of vacuolar ATPase. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system ["None"] ["None"] AF100741 5138993 ATP6V1D Chromosome:1 14q23-q24.2 ATP6V1D HGNC:13527 true 2020-06-12T23:07:04Z 2020-07-28T02:27:47Z 0 0 0 2394 CDBP02393 V-type proton ATPase subunit d 2 Q8N8Y2 VA0D2_HUMAN true true Enzyme Homo_sapiens ATP6V0D2 350 40426.0 4.97 Involved in hydrogen ion transmembrane transporter activity Subunit of the integral membrane V0 complex of vacuolar ATPase. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system. May play a role in coupling of proton transport and ATP hydrolysis ["None"] ["None"] AK096027 21755413 ATP6V0D2 ATP6V0D2 HGNC:18266 true 2020-06-12T23:07:04Z 2020-07-28T02:27:47Z 0 0 0 2395 CDBP02394 V-type proton ATPase subunit E 2 Q96A05 VATE2_HUMAN true true Enzyme Homo_sapiens ATP6V1E2 226 26074.3 9.24 Involved in proton-transporting ATPase activity, rotational mechanism Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. This isoform is essential for energy coupling involved in acidification of acrosome ["None"] ["None"] AB074759 21392390 ATP6V1E2 Chromosome:2 2p21 ATP6V1E2 HGNC:18125 true 2020-06-12T23:07:04Z 2020-07-28T02:27:47Z 0 0 0 2396 CDBP02395 V-type proton ATPase subunit C 2 Q8NEY4 VATC2_HUMAN true false Enzyme Homo_sapiens ATP6V1C2 427 48758.4 5.99 Involved in hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit C is necessary for the assembly of the catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells ["None"] ["None"] NM_001039362.1 87159812 ATP6V1C2 ATP6V1C2 HGNC:18264 true 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2397 CDBP02396 Adenylate kinase 2, mitochondrial P54819 KAD2_HUMAN true false Enzyme Homo_sapiens AK2 239 24648.125 6.696 Involved in ATP binding Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. This small ubiquitous enzyme involved in energy metabolism and nucleotide synthesis that is essential for maintenance and cell growth. Plays a key role in hematopoiesis. 2C9Y U39945 AK2 1 1p34 AK2 HGNC:362 true hsa:204 NP_001186128.1:NM_001199199.1;NP_001616.1:NM_001625.3;NP_037543.1:NM_013411.4 Present in most tissues. Present at high level in heart, liver and kidney, and at low level in brain, skeletal muscle and skin. Present in thrombocytes but not in erythrocytes, which lack mitochondria. Present in all nucleated cell populations from blood, while AK1 is mostly absent. In spleen and lymph nodes, mononuclear cells lack AK1, whereas AK2 is readily detectable. These results indicate that leukocytes may be susceptible to defects caused by the lack of AK2, as they do not express AK1 in sufficient amounts to compensate for the AK2 functional deficits (at protein level). Monomer 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2398 CDBP02397 CTP synthase 2 Q9NRF8 PYRG2_HUMAN true false Enzyme Homo_sapiens CTPS2 586 65677.005 6.91 Involved in CTP synthase activity Catalyzes the ATP-dependent amination of UTP to CTP with either L-glutamine or ammonia as the source of nitrogen. Constitutes the rate-limiting enzyme in the synthesis of cytosine nucleotides. 2V4U;2VKT;3IHL AF226667 9651727 CTPS2 X Xp22 CTPS2 HGNC:2520 true hsa:56474 HS00585-MONOMER NP_001137474.1:NM_001144002.1;NP_062831.3:NM_019857.3;NP_787055.1:NM_175859.1 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2399 CDBP02398 Phosphatidylinositol-5-phosphate 4-kinase type-2 gamma Q8TBX8 PI42C_HUMAN true false Enzyme Homo_sapiens PIP4K2C 421 47285.5 6.84 Involved in phosphatidylinositol phosphate kinase activity May play an important role in the production of Phosphatidylinositol bisphosphate (PIP2), in the endoplasmic reticulum ["None"] ["None"] NM_001146258.1 226371739 PIP4K2C Chromosome:1 12q13.3 PIP4K2C HGNC:23786 true 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2400 CDBP02399 Nicotinamide riboside kinase 1 Q9NWW6 NRK1_HUMAN true false Enzyme Homo_sapiens NMRK1 199 20152.76 4.63 Involved in ATP binding Catalyzes the phosphorylation of nicotinamide riboside (NR) and nicotinic acid riboside (NaR) to form nicotinamide mononucleotide (NMN) and nicotinic acid mononucleotide (NaMN). The enzyme also phosphorylates the antitumor drugs tiazofurin and 3-deazaguanosine. 2P0E;2QG6;2QL6;2QSY;2QSZ;2QT0;2QT1 AK000566 7020749 NRK1 9 9q21.13 NRK1 HGNC:26057 true hsa:54981 NP_001121075.1:NM_001127603.1;NP_060351.1:NM_017881.2 Monomer 2020-06-12T23:07:04Z 2020-07-28T02:27:48Z 0 1 0 2401 CDBP02400 Acetoacetyl-CoA synthetase Q86V21 AACS_HUMAN true false Enzyme Homo_sapiens AACS 672 75143.645 6.244 Involved in acetoacetate-CoA ligase activity Activates acetoacetate to acetoacetyl-CoA. May be involved in utilizing ketone body for the fatty acid-synthesis during adipose tissue development (By similarity). AB054121 48290356 AACS 12 12q24.31 AACS HGNC:21298 true hsa:65985 NP_076417.2:NM_023928.3 Highly expressed in kidney, heart and brain, but low in liver. 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2402 CDBP02401 Ethanolamine kinase 2 Q9NVF9 EKI2_HUMAN true false Enzyme Homo_sapiens ETNK2 386 44781.125 7.335 Cell wall/membrane/envelope biogenesis Highly specific for ethanolamine phosphorylation. Does not have choline kinase activity (By similarity). NM_018208.2 186659525 ETNK2 1 1q32.1 ETNK2 HGNC:25575 true hsa:55224 NP_060678.2:NM_018208.2 Expressed in kidney, liver, ovary, testis and prostate. 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2403 CDBP02402 Adenylate cyclase type 10 Q96PN6 ADCYA_HUMAN true false Enzyme Homo_sapiens ADCY10 1610 169748.45 7.685 Involved in phosphorus-oxygen lyase activity Soluble adenylyl cyclase that has a critical role in mammalian spermatogenesis. Produces the cAMP which mediates in part the cAMP-responsive nuclear factors indispensable for maturation of sperm in the epididymis. Induces capacitation, the maturational process that sperm undergo prior to fertilization. May be the bicarbonate sensor. Involved in ciliary beat regulation. AF176813 7650188 ADCY10 1 1q24 ADCY10 HGNC:21285 true hsa:55811 NP_001161221.1:NM_001167749.1;NP_060887.2:NM_018417.4 Weakly expressed in multiple tissues. Expressed in brain, heart, kidney, liver, lung, pancreas, peripheral blood leukocytes, placenta, skeletal muscle, stomach, thymus, airway epithelial cells, duodenum, jejunum and ileum. Very low level of expression in bone. magnesium ions 2020-06-12T23:07:04Z 2020-07-28T02:27:48Z 0 1 0 2404 CDBP02403 Acyl-coenzyme A synthetase ACSM1, mitochondrial Q08AH1 ACSM1_HUMAN true false Enzyme Homo_sapiens ACSM1 577 65272.74 8.28 Involved in catalytic activity Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C(4) to C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4-unsaturated acids (in vitro). Functions as GTP-dependent lipoate-activating enzyme that generates the substrate for lipoyltransferase (By similarity). AB059429 15487302 ACSM1 16 16p12.3 ACSM1 HGNC:18049 true hsa:116285 NP_443188.2:NM_052956.2 Magnesium Monomer 2020-06-12T23:07:04Z 2020-07-28T02:27:48Z 0 1 0 2405 CDBP02404 Diacylglycerol kinase eta Q86XP1 DGKH_HUMAN true false Enzyme Homo_sapiens DGKH 1220 134864.3 6.51 Involved in diacylglycerol kinase activity Phosphorylates diacylglycerol (DAG) to generate phosphatidic acid (PA) ["None"] ["None"] 1R79 NM_178009.2 29788751 DGKH Chromosome:1 13q14.11 DGKH HGNC:2854 true 2020-06-12T23:07:04Z 2020-07-28T02:27:48Z 1 0 0 2406 CDBP02405 S-methylmethionine--homocysteine S-methyltransferase BHMT2 Q9H2M3 BHMT2_HUMAN true false Enzyme Homo_sapiens BHMT2 363 33166.69 5.973 Involved in zinc ion binding Involved in the regulation of homocysteine metabolism. Converts homocysteine to methionine using S-methylmethionine (SMM) as a methyl donor. AF257473 11907831 BHMT2 5 5q13 BHMT2 HGNC:1048 true hsa:23743 NP_001171476.1:NM_001178005.1;NP_060084.2:NM_017614.4 Expressed in liver and kidney and at reduced levels in the brain, heart, and skeletal muscle. zinc ion Homotetramer . May interact with PRNP 2020-06-12T23:07:04Z 2020-07-28T02:27:48Z 0 1 0 2407 CDBP02406 DBH-like monooxygenase protein 1 Q6UVY6 MOXD1_HUMAN true false Enzyme Homo_sapiens MOXD1 613 69651.9 6.41 Involved in monooxygenase activity ["1-19"] ["593-613"] NM_015529.2 118421087 MOXD1 Chromosome:6 6q23.2 MOXD1 HGNC:21063 true 2020-06-12T23:07:04Z 2020-07-28T02:27:48Z 0 1 0 2408 CDBP02407 Solute carrier family 22 member 2 O15244 S22A2_HUMAN false true Transporter Homo_sapiens SLC22A2 555 62564.0 8.45 Involved in ion transmembrane transporter activity Mediates tubular uptake of organic compounds from circulation. Mediates the influx of agmatine, dopamine, noradrenaline (norepinephrine), serotonin, choline, famotidine, ranitidine, histamin, creatinine, amantadine, memantine, acriflavine, 4-[4-(dimethylamino)-styryl]-N-methylpyridinium ASP, amiloride, metformin, N-1-methylnicotinamide (NMN), tetraethylammonium (TEA), 1-methyl-4-phenylpyridinium (MPP), cimetidine, cisplatin and oxaliplatin. Cisplatin may develop a nephrotoxic action. Transport of creatinine is inhibited by fluoroquinolones such as DX-619 and LVFX. This transporter is a major determinant of the anticancer activity of oxaliplatin and may contribute to antitumor specificity ["None"] ["23-43", "151-171", "178-198", "209-229", "239-259", "264-284", "349-369", "376-396", "415-435", "442-462", "465-485", "495-515"] X98333 2281942 SLC22A2 Chromosome:6 6q26 SLC22A2 HGNC:10966 true 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2409 CDBP02408 Solute carrier family 22 member 3 O75751 S22A3_HUMAN false true Transporter Homo_sapiens SLC22A3 556 61279.5 8.64 Involved in transmembrane transport Mediates potential-dependent transport of a variety of organic cations. May play a significant role in the disposition of cationic neurotoxins and neurotransmitters in the brain ["None"] ["21-41", "182-202", "241-261", "269-289", "381-401", "468-488", "498-518"] AJ001417 3581982 SLC22A3 Chromosome:6 6q25.3 SLC22A3 HGNC:10967 true 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2410 CDBP02409 Thymidylate synthase P04818 TYSY_HUMAN true false Enzyme Homo_sapiens TYMS 313 35715.65 6.998 Involved in thymidylate synthase activity Contributes to the de novo mitochondrial thymidylate biosynthesis pathway. 1HVY;1HW3;1HW4;1HZW;1I00;1JU6;1JUJ;1YPV;2ONB;2RD8;2RDA;3EAW;3EBU;3ED7;3EDW;3EF9;3EGY;3EHI;3EJL;3GG5;3GH0;3GH2;3H9K;3HB8;3N5E;3N5G;3OB7;4E28;4GYH;4H1I X02308 37479 TYMS 18 18p11.32 TYMS HGNC:12441 true hsa:7298 HS11096-MONOMER NP_001062.1:NM_001071.2 Homodimer 2020-06-12T23:07:04Z 2020-07-28T02:27:48Z 0 0 1 2411 CDBP02410 Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A Q9HCR9 PDE11_HUMAN true false Enzyme Homo_sapiens PDE11A 933 55699.16 5.892 Involved in catalytic activity Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides cAMP and cGMP. Catalyzes the hydrolysis of both cAMP and cGMP to 5'-AMP and 5'-GMP, respectively. NM_016953.3 116536085 PDE11A 2 2q31.2 PDE11A HGNC:8773 true hsa:50940 NP_001070664.1:NM_001077196.1;NP_001070665.1:NM_001077197.1;NP_001070826.1:NM_001077358.1;NP_058649.3:NM_016953.3 Isoform 1 is present in prostate, pituitary, heart and liver. It is however not present in testis nor in penis, suggesting that weak inhibition by Tadalafil (Cialis) is not relevant (at protein level). Isoform 2 may be expressed in testis. Isoform 4 is expressed in adrenal cortex. divalent metal cations . Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions 2020-06-12T23:07:04Z 2020-07-28T02:27:49Z 0 1 0 2412 CDBP02411 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1 P14060 3BHS1_HUMAN true false Enzyme Homo_sapiens HSD3B1 373 42251.25 8.712 Involved in 3-beta-hydroxy-delta5-steroid dehydrogenase activity 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. Efficiently catalyzes the transformation of pregnenolone to progesterone, 17-alpha-hydroxypregnenolone to 17-alpha-hydroxyprogesterone, DHEA to 4-androstenedione, dihydrotestosterone to 5-alpha-androstane-3 beta,17 beta-diol, dehydroepiandrosterone to androstenedione and 5-alpha-androstan-3 beta,17 beta-diol to 5-alpha-dihydrotestosterone. M27137 HSD3B1 1 1p13.1 HSD3B1 HGNC:5217 true hsa:3283 HS08829-MONOMER NP_000853.1:NM_000862.2 Placenta and skin. Predominantly expressed in mammary gland tissue. 2020-06-12T23:07:04Z 2020-07-28T02:27:49Z 0 0 0 2413 CDBP02412 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 P26439 3BHS2_HUMAN true false Enzyme Homo_sapiens HSD3B2 372 42051.845 8.025 Involved in 3-beta-hydroxy-delta5-steroid dehydrogenase activity 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. M67466 124297709 HSD3B2 1 1p13.1 HSD3B2 HGNC:5218 true hsa:3284 HS10943-MONOMER NP_000189.1:NM_000198.3;NP_001159592.1:NM_001166120.1 Expressed in adrenal gland, testis and ovary. 2020-06-12T23:07:04Z 2020-07-28T02:27:49Z 0 0 0 2414 CDBP02413 Phosphoglycolate phosphatase A6NDG6 PGP_HUMAN true false Enzyme Homo_sapiens PGP 321 34005.69 6.134 Involved in catalytic activity NM_001042371.2 108796653 PGP 16 16p13.3 PGP HGNC:8909 true hsa:283871 NP_001035830.1:NM_001042371.2 Detected in all tissues including red cells, lymphocytes and cultured fibroblasts (at protein level). The highest activities occur in skeletal muscle and cardiac muscle. 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2415 CDBP02414 PI-PLC X domain-containing protein 2 Q0VAA5 PLCX2_HUMAN true false Enzyme Homo_sapiens PLCXD2 305 34776.9 9.94 Involved in phosphoric diester hydrolase activity ["None"] ["None"] NM_001185106.1 297515471 PLCXD2 Chromosome:3 3q13.2 PLCXD2 HGNC:26462 true 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2416 CDBP02415 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 Q9BRC7 PLCD4_HUMAN true false Enzyme Homo_sapiens PLCD4 762 87584.515 5.207 Involved in calcium ion binding Hydrolyzes the phosphatidylinositol 4,5-bisphosphate (PIP2) to generate 2 second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). DAG mediates the activation of protein kinase C (PKC), while IP3 releases Ca(2+) from intracellular stores. Required for acrosome reaction in sperm during fertilization, probably by acting as an important enzyme for intracellular Ca(2+) mobilization in the zona pellucida-induced acrosome reaction. May play a role in cell growth. Modulates the liver regeneration in cooperation with nuclear PKC. Overexpression up-regulates the Erk signaling pathway and proliferation. AK223203 62897967 PLCD4 2 2q35 PLCD4 HGNC:9062 true hsa:84812 NP_116115.1:NM_032726.3 Highly expressed in skeletal muscle and kidney tissues, and at moderate level in intestinal tissue. Expressed in corneal epithelial cells. calcium ions . Two of the calcium ions are bound to the C2 domain Interacts with GRIP1 2020-06-12T23:07:04Z 2020-07-28T02:27:49Z 0 1 0 2417 CDBP02416 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1 Q4KWH8 PLCH1_HUMAN true false Enzyme Homo_sapiens PLCH1 1693 189221.52 7.743 Involved in calcium ion binding The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by calcium-activated phosphatidylinositol-specific phospholipase C enzymes. NM_001130960.1 195972871 PLCH1 3 3q25.31 PLCH1 HGNC:29185 true hsa:23007 NP_001124432.1:NM_001130960.1;NP_001124433.1:NM_001130961.1;NP_055811.1:NM_014996.2 Expressed in brain and to a lower extent in lung. In brain, it is found in cerebrum, cerebellum and spinal cord. Calcium 2020-06-12T23:07:04Z 2020-07-28T02:27:49Z 0 1 0 2418 CDBP02417 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 Q9P212 PLCE1_HUMAN true false Enzyme Homo_sapiens PLCE1 2302 223869.895 6.631 Involved in calcium ion binding The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. PLCE1 is a bifunctional enzyme which also regulates small GTPases of the Ras superfamily through its Ras guanine-exchange factor (RasGEF) activity. As an effector of heterotrimeric and small G-protein, it may play a role in cell survival, cell growth, actin organization and T-cell activation. 2BYE;2BYF;2C5L NM_016341.3 117168250 PLCE1 10 10q23 PLCE1 HGNC:17175 true hsa:51196 HS06473-MONOMER NP_001159451.1:NM_001165979.1;NP_057425.3:NM_016341.3 Widely expressed. Isoform 1 is broadly expressed and only absent in peripheral blood leukocytes. Isoform 2 is specifically expressed in placenta, lung and spleen. Calcium Interacts with RHOA . Interacts with IQGAP1, HRAS, RAP1A, RAP2A, RAP2B and RRAS 2020-06-12T23:07:04Z 2020-07-28T02:27:49Z 1 1 0 2419 CDBP02418 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3 Q8N3E9 PLCD3_HUMAN true false Enzyme Homo_sapiens PLCD3 789 89257.54 6.971 Involved in calcium ion binding Hydrolyzes the phosphatidylinositol 4,5-bisphosphate (PIP2) to generate 2 second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). DAG mediates the activation of protein kinase C (PKC), while IP3 releases Ca(2+) from intracellular stores. Essential for trophoblast and placental development. May participate in cytokinesis by hydrolyzing PIP2 at the cleavage furrow. AK074240 PLCD3 17 17q21.31 PLCD3 HGNC:9061 true hsa:113026 NP_588614.1:NM_133373.3 Present in corneal epithelial cells (at protein level). calcium ions . Two of the calcium ions are bound to the C2 domain 2020-06-12T23:07:04Z 2020-07-28T02:27:49Z 0 1 0 2420 CDBP02419 Elongation of very long chain fatty acids protein 4 Q9GZR5 ELOV4_HUMAN true false Enzyme Homo_sapiens ELOVL4 314 36828.905 9.468 Involved in G-protein coupled photoreceptor activity Condensing enzyme that elongates saturated and monounsaturated very long chain fatty acids (VLCFAs). Elongates C24:0 and C26:0 acyl-CoAs. Seems to represent a photoreceptor-specific component of the fatty acid elongation system residing on the endoplasmic reticulum. May be implicated in docosahexaenoic acid (DHA) biosynthesis, which requires dietary consumption of the essential alpha-linolenic acid and a subsequent series of three elongation steps. May play a critical role in early brain and skin development. AF277094 ELOVL4 6 6q14 ELOVL4 HGNC:14415 true hsa:6785 ENSG00000118402-MONOMER NP_073563.1:NM_022726.3 Expressed in the retina and at much lower level in the brain. Ubiquitous, highest expression in thymus, followed by testis, small intestine, ovary, and prostate. Little or no expression in heart, lung, liver, or leukocates. Oligomer 2020-06-12T23:07:04Z 2020-07-28T02:27:49Z 1 0 0 2421 CDBP02420 Diacylglycerol O-acyltransferase 2 Q96PD7 DGAT2_HUMAN true false Enzyme Homo_sapiens DGAT2 388 39043.88 9.362 Involved in transferase activity, transferring acyl groups other than amino-acyl groups Essential acyltransferase that catalyzes the terminal and only committed step in triacylglycerol synthesis by using diacylglycerol and fatty acyl CoA as substrates. Required for synthesis and storage of intracellular triglycerides. Probably plays a central role in cytosolic lipid accumulation. In liver, is primarily responsible for incorporating endogenously synthesized fatty acids into triglycerides (By similarity). Functions also as an acyl-CoA retinol acyltransferase (ARAT). AB048286 22506631 DGAT2 11 11q13.5 DGAT2 HGNC:16940 true hsa:84649 NP_001240820.1:NM_001253891.1;NP_115953.2:NM_032564.4 Predominantly expressed in liver and white adipose tissue. Expressed at lower level in mammary gland, testis and peripheral blood leukocytes. Expressed in sebaceous glands of normal skin but decreased psoriatic skin. Forms multimeric complexes consisting of several DGAT2 subunits 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2422 CDBP02421 1-acyl-sn-glycerol-3-phosphate acyltransferase delta Q9NRZ5 PLCD_HUMAN true false Enzyme Homo_sapiens AGPAT4 378 44020.935 8.717 Involved in acyltransferase activity Converts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acyl moiety at the sn-2 position of the glycerol backbone (By similarity). AF156776 8886005 AGPAT4 6 6q26 AGPAT4 HGNC:20885 true hsa:56895 HS00452-MONOMER NP_064518.1:NM_020133.2 Widely expressed with highest levels in skeletal muscle, followed by heart, liver, prostate and thymus. 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2423 CDBP02422 2-acylglycerol O-acyltransferase 1 Q96PD6 MOGT1_HUMAN true false Enzyme Homo_sapiens MOGAT1 335 38812.19 9.513 Involved in transferase activity, transferring acyl groups other than amino-acyl groups Catalyzes the formation of diacylglycerol from 2-monoacylglycerol and fatty acyl-CoA. Probably not involved in absorption of dietary fat in the small intestine (By similarity). NM_058165.2 148746191 MOGAT1 2 2q36.1 MOGAT1 HGNC:18210 true hsa:116255 NP_477513.2:NM_058165.2 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2424 CDBP02423 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial Q6NVY1 HIBCH_HUMAN true false Enzyme Homo_sapiens HIBCH 386 43481.935 8.196 Involved in catalytic activity Hydrolyzes 3-hydroxyisobutyryl-CoA (HIBYL-CoA), a saline catabolite. Has high activity toward isobutyryl-CoA. Could be an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Also hydrolyzes 3-hydroxypropanoyl-CoA. 3BPT NM_014362.3 37594471 HIBCH 2 2q32.2 HIBCH HGNC:4908 true hsa:26275 NP_055177.2:NM_014362.3;NP_932164.1:NM_198047.2 Highly expressed in liver and kidney, also detected in heart, muscle and brain (at protein level). Not detected in lung. 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2425 CDBP02424 Selenocysteine lyase Q96I15 SCLY_HUMAN true false Enzyme Homo_sapiens SCLY 445 48793.15 7.124 Involved in metabolic process Catalyzes the decomposition of L-selenocysteine to L-alanine and elemental selenium (By similarity). 3GZC;3GZD NM_016510.4 156713448 SCLY 2 2q37.3 SCLY HGNC:18161 true hsa:51540 NP_057594.4:NM_016510.5 Pyridoxal phosphate Homodimer 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2426 CDBP02425 Thiamine transporter 2 Q9BZV2 S19A3_HUMAN true true Enzyme Homo_sapiens SLC19A3 496 55664.265 6.408 Involved in folic acid binding Mediates high affinity thiamine uptake, propably via a proton anti-port mechanism. Has no folate transport activity. AF271633 SLC19A3 2 2q37 SLC19A3 HGNC:16266 true hsa:80704 NP_079519.1:NM_025243.3 Widely expressed but most abundant in placenta, kidney and liver. 2020-06-12T23:07:04Z 2020-07-28T02:27:50Z 0 0 0 2427 CDBP02426 Carbonic anhydrase 14 Q9ULX7 CAH14_HUMAN true false Enzyme Homo_sapiens CA14 337 37667.37 6.361 Inorganic ion transport and metabolism Reversible hydration of carbon dioxide. AB025904 CA14 1 1q21 CA14 HGNC:1372 true hsa:23632 NP_036245.1:NM_012113.1 High expression in all parts of the central nervous system and lower expression in adult liver, heart, small intestine, colon, kidney, urinary bladder and skeletal muscle. Zinc 2020-06-12T23:07:04Z 2020-07-28T02:27:50Z 0 1 0 2428 CDBP02427 Carbonic anhydrase 7 P43166 CAH7_HUMAN true false Enzyme Homo_sapiens CA7 264 23451.435 8.299 Involved in carbonate dehydratase activity Reversible hydration of carbon dioxide. 3MDZ;3ML5 AY075019 28192435 CA7 16 16q22.1 CA7 HGNC:1381 true hsa:766 NP_001014435.1:NM_001014435.1;NP_005173.1:NM_005182.2 Zinc 2020-06-12T23:07:04Z 2020-07-28T02:27:50Z 0 1 0 2429 CDBP02428 3 beta-hydroxysteroid dehydrogenase type 7 Q9H2F3 3BHS7_HUMAN true false Enzyme Homo_sapiens HSD3B7 369 21322.265 7.236 Involved in 3-beta-hydroxy-delta5-steroid dehydrogenase activity The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. HSD VII is active against four 7-alpha-hydroxylated sterols. Does not metabolize several different C(19/21) steroids as substrates. Involved in bile acid synthesis. AF277719 11545403 HSD3B7 16 16p11.2 HSD3B7 HGNC:18324 true hsa:80270 NP_001136249.1:NM_001142777.1;NP_001136250.1:NM_001142778.1;NP_079469.2:NM_025193.3 2020-06-12T23:07:04Z 2020-07-28T02:27:50Z 0 0 0 2430 CDBP02429 3-hydroxymethyl-3-methylglutaryl-CoA lyase, cytoplasmic Q8TB92 HMGC2_HUMAN true false Enzyme Homo_sapiens HMGCLL1 370 36327.465 6.605 Involved in catalytic activity Non-mitochondrial 3-hydroxymethyl-3-methylglutaryl-CoA lyase that catalyzes a cation-dependent cleavage of (S)-3-hydroxy-3-methylglutaryl-CoA into acetyl-CoA and acetoacetate, a key step in ketogenesis, the products of which support energy production in nonhepatic animal tissues. NM_019036.2 109150427 HMGCLL1 6 6p12.1 HMGCLL1 HGNC:21359 true hsa:54511 NP_001035865.1:NM_001042406.1;NP_061909.2:NM_019036.2 Divalent metal cations 2020-06-12T23:07:04Z 2020-07-28T02:27:50Z 0 1 0 2431 CDBP02430 Cholesterol 24-hydroxylase Q9Y6A2 CP46A_HUMAN true false Enzyme Homo_sapiens CYP46A1 500 56820.535 9.02 Involved in monooxygenase activity Involved in the turnover of cholesterol. It converts cholesterol into 24S-hydroxycholesterol and, to a lesser extent, 25-hydroxycholesterol. 2Q9F;2Q9G;3MDM;3MDR;3MDT;3MDV;4ENH;4FIA AF094480 5257114 CYP46A1 14 14q32.1 CYP46A1 HGNC:2641 true hsa:10858 NP_006659.1:NM_006668.1 Expressed in brain. The mRNA was broadly distributed with higher levels in gray matter zones and lower levels in regions rich in white matter. Not detected in fetal sample but its expression increases linearly with age. Heme group 2020-06-12T23:07:04Z 2020-07-28T02:27:50Z 0 1 0 2432 CDBP02431 Inorganic pyrophosphatase 2, mitochondrial Q9H2U2 IPYR2_HUMAN true false Enzyme Homo_sapiens PPA2 334 34657.47 8.45 Involved in magnesium ion binding NM_176869.2 29171702 PPA2 4 4q25 PPA2 HGNC:28883 true hsa:27068 NP_008834.3:NM_006903.4;NP_789842.2:NM_176866.2;NP_789843.2:NM_176867.3;NP_789845.1:NM_176869.2 Detected in brain, gastric carcinoma, lung, ovary, skeletal muscle, umbilical cord blood and a cell line derived from kidney proximal tubule epithelium. Magnesium Homodimer 2020-06-12T23:07:04Z 2020-07-28T02:27:50Z 0 1 0 2433 CDBP02432 Glucose-6-phosphatase 3 Q9BUM1 G6PC3_HUMAN true false Enzyme Homo_sapiens G6PC3 346 38734.115 8.199 Involved in catalytic activity Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. May form with the glucose-6-phosphate transporter (SLC37A4/G6PT) a ubiquitously expressed complex responsible for glucose production through glycogenolysis and gluconeogenesis. Probably required for normal neutrophil function. BC002494 37589867 G6PC3 17 17q21.31 G6PC3 HGNC:24861 true hsa:92579 NP_612396.1:NM_138387.3 Ubiquitously expressed. Highly expressed in skeletal muscle, at intermediate levels in heart, brain, placenta, kidney, colon, thymus, spleen and pancreas. Also detected in testis, prostate, ovary, liver, lung, small intestine and peripheral blood lymphocytes. 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2434 CDBP02433 Glucose-6-phosphatase 2 Q9NQR9 G6PC2_HUMAN true false Enzyme Homo_sapiens G6PC2 355 17756.465 8.121 Involved in catalytic activity May hydrolyze glucose-6-phosphate to glucose in the endoplasmic reticulum. May be responsible for glucose production through glycogenolysis and gluconeogenesis (By similarity). AF283835 9082328 G6PC2 2 2q24.3 G6PC2 HGNC:28906 true hsa:57818 NP_001075155.1:NM_001081686.1;NP_066999.1:NM_021176.2 Specifically expressed in pancreas and also detected to a lower extent in testis. Expressed by most islet cells in the pancreas (at protein level). 2020-06-12T23:07:04Z 2020-06-12T23:07:04Z 0 0 0 2435 CDBP02434 Sodium-independent sulfate anion transporter Q86WA9 S2611_HUMAN false true Transporter Homo_sapiens SLC26A11 606 65298.305 7.315 Involved in secondary active sulfate transmembrane transporter activity Exhibits sodium-independent sulfate anion transporter activity that may cooperate with SLC26A2 to mediate DIDS-sensitive sulfate uptake into high endothelial venules endothelial cells (HEVEC). AJ544073 29243004 SLC26A11 17 17q25.3 SLC26A11 HGNC:14471 true hsa:284129 NP_001159819.1:NM_001166347.1;NP_001159820.1:NM_001166348.1;NP_001159821.1:NM_001166349.1;NP_775897.3:NM_173626.3 Detected in all tissues tested with highest expression observed in brain, kidney, HEVEC and placenta and lowest in pancreas, skeletal muscle, liver, lung and heart. 2020-06-12T23:07:04Z 2020-07-28T02:32:10Z 0 0 0 2436 CDBP02435 Solute carrier family 26 member 9 Q7LBE3 S26A9_HUMAN false true Transporter Homo_sapiens SLC26A9 791 86987.5 8.32 Involved in secondary active sulfate transmembrane transporter activity DIDS- and thiosulfate- sensitive anion exchanger mediating chloride, sulfate and oxalate transport. Mediates chloride/bicarbonate exchange or chloride-independent bicarbonate extrusion thus assuring bicarbonate secretion. Inhibited by ammonium and thiosulfate ["None"] ["43-63", "71-91", "92-112", "115-135", "179-199", "200-220", "222-242", "249-269", "280-300", "332-352", "377-397", "406-426", "474-494"] AF331525 15341556 SLC26A9 Chromosome:1 1q32.1 SLC26A9 HGNC:14469 true 2020-06-12T23:07:04Z 2020-07-28T02:32:10Z 0 0 0 2437 CDBP02436 Anion exchange transporter Q8TE54 S26A7_HUMAN false true Transporter Homo_sapiens SLC26A7 656 72212.2 7.96 Involved in transporter activity Acts as a sodium-independent DIDS-sensitive anion exchanger mediating bicarbonate, chloride, sulfate and oxalate transport. May play a role in the maintenance of the electrolyte and acid-base homeostasis in the kidney, by acting as a distal excretory segment-specific anion exchanger. Plays a major role in gastric acid secretion ["None"] ["76-96", "145-165", "167-187", "203-223", "228-248", "255-275", "307-327", "344-364", "384-404", "405-425", "449-469"] AF331521 15341552 SLC26A7 Chromosome:8 8q23 SLC26A7 HGNC:14467 true 2020-06-12T23:07:04Z 2020-07-28T02:32:10Z 0 0 0 2438 CDBP02437 Testis anion transporter 1 Q96RN1 S26A8_HUMAN false true Transporter Homo_sapiens SLC26A8 970 109004.5 6.19 Involved in transporter activity Acts as a DIDS-sensitive anion exchanger mediating chloride, sulfate and oxalate transport. May fulfill critical anion exchange functions in male germ line during meiosis and hence may play a role in spermatogenesis. May be involved in a new regulatory pathway linking sulfate transport to RhoGTPase signaling in male germ cells. A critical component of the sperm annulus that is essential for correct sperm tail differentiation and motility and hence male fertility ["None"] ["96-116", "120-140", "147-167", "203-223", "233-253", "271-291", "308-328", "356-376", "393-413", "430-450", "453-473", "498-518"] AF314959 16588684 SLC26A8 Chromosome:6 6p21 SLC26A8 HGNC:14468 true 2020-06-12T23:07:04Z 2020-07-28T02:32:10Z 0 0 0 2439 CDBP02438 Cytochrome P450 11B2, mitochondrial P19099 C11B2_HUMAN false false Metal Binding Homo_sapiens CYP11B2 503 57559.62 9.394 Involved in monooxygenase activity Preferentially catalyzes the conversion of 11-deoxycorticosterone to aldosterone via corticosterone and 18-hydroxycorticosterone. NM_000498.3 119829183 CYP11B2 8 8q21-q22 CYP11B2 HGNC:2592 true hsa:1585 HS11355-MONOMER NP_000489.3:NM_000498.3 Heme group 2020-06-12T23:07:05Z 2020-07-28T02:31:58Z 0 1 0 2440 CDBP02439 Isobutyryl-CoA dehydrogenase, mitochondrial Q9UKU7 ACAD8_HUMAN true false Enzyme Homo_sapiens ACAD8 415 45069.39 7.849 Involved in acyl-CoA dehydrogenase activity Has very high activity toward isobutyryl-CoA. Is an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Plays a role in transcriptional coactivation within the ARC complex. 1RX0 AF126245 ACAD8 11 11q25 ACAD8 HGNC:87 true hsa:27034 NP_055199.1:NM_014384.2 Detected at comparable levels in all tissues examined (heart, lung, brain, skeletal muscle, pancreas and placenta). Weakly expressed in liver and kidney. FAD Homotetramer, formed by a dimer of dimers. Subunit of the large multiprotein complex ARC/DRIP 2020-06-12T23:07:05Z 2020-07-28T02:27:51Z 0 0 1 2441 CDBP02440 Acyl-CoA dehydrogenase family member 9, mitochondrial Q9H845 ACAD9_HUMAN true false Enzyme Homo_sapiens ACAD9 621 68759.7 8.05 Involved in acyl-CoA dehydrogenase activity Has a dehydrogenase activity on palmitoyl-CoA (C16:0) and stearoyl-CoA (C18:0). It is three times more active on palmitoyl-CoA then on stearoyl-CoA. Has little activity on octanoyl-CoA (C8:0), butyryl-CoA (C4:0) or isovaleryl-CoA (5:0) ["None"] ["None"] AF327351 18028283 ACAD9 Chromosome:3 3q21.3 ACAD9 HGNC:21497 true 2020-06-12T23:07:05Z 2020-07-28T02:27:51Z 0 0 0 2442 CDBP02441 Polypeptide N-acetylgalactosaminyltransferase 9 Q9HCQ5 GALT9_HUMAN true false Enzyme Homo_sapiens GALNT9 603 68388.61 8.35 Involved in protein binding Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Does not glycosylate apomucin or SDC3. AB040672 10336504 GALNT9 12 12q24.33 GALNT9 HGNC:4131 true hsa:50614 NP_001116108.1:NM_001122636.1;NP_068580.2:NM_021808.3 Specifically expressed in brain. Not expressed in heart, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon and leukocyte. In brain, it is expressed in cerebellum, frontal lobe, temporal lobe, putamen and spinal cord, weakly expressed in cerebral cortex. Not expressed in medulla and occipital pole. Manganese;Calcium 2020-06-12T23:07:05Z 2020-07-28T02:27:51Z 0 0 0 2443 CDBP02442 Monocarboxylate transporter 10 Q8TF71 MOT10_HUMAN false true Transporter Homo_sapiens SLC16A10 515 55492.1 7.77 Involved in transmembrane transport Sodium-independent transporter that mediates the update of aromatic acid. Can function as a net efflux pathway for aromatic amino acids in the basosolateral epithelial cells ["None"] ["67-87", "115-135", "145-165", "172-192", "201-221", "229-249", "292-312", "330-350", "352-372", "397-417", "420-440", "452-472"] AB057445 SLC16A10 Chromosome:6 6q21-q22 SLC16A10 HGNC:17027 true 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2444 CDBP02443 Probable proline dehydrogenase 2 Q9UF12 PROD2_HUMAN true false Enzyme Homo_sapiens PRODH2 536 58870.115 8.598 Involved in proline dehydrogenase activity Converts proline to delta-1-pyrroline-5-carboxylate (Probable). U80018 6649583 PRODH2 19 19q13.1 PRODH2 HGNC:17325 true hsa:58510 NP_067055.1:NM_021232.1 FAD 2020-06-12T23:07:05Z 2020-07-28T02:27:51Z 0 0 0 2445 CDBP02444 Retinol dehydrogenase 8 Q9NYR8 RDH8_HUMAN true false Enzyme Homo_sapiens RDH8 311 35804.24 8.238 Involved in estradiol 17-beta-dehydrogenase activity Retinol dehydrogenase with a clear preference for NADP. Converts all-trans-retinal to all-trans-retinol. May play a role in the regeneration of visual pigment at high light intensity (By similarity). AF229845 RDH8 19 19p13.2 RDH8 HGNC:14423 true hsa:50700 HS01358-MONOMER NP_056540.2:NM_015725.2 Detected in photoreceptor outer segments in the retina (at protein level). 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2446 CDBP02445 Retinol dehydrogenase 14 Q9HBH5 RDH14_HUMAN true false Enzyme Homo_sapiens RDH14 336 36864.4 9.0 Involved in oxidoreductase activity Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal reductase. Displays high activity toward 9-cis and all-trans-retinol. No steroid dehydrogenase activity detected ["None"] ["None"] AF237952 RDH14 Chromosome:2 2p24.2 RDH14 HGNC:19979 true 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2447 CDBP02446 Retinol dehydrogenase 11 Q8TC12 RDH11_HUMAN true false Enzyme Homo_sapiens RDH11 318 35385.955 8.826 Involved in oxidoreductase activity Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal reductase. Displays high activity towards 9-cis and all-trans-retinol. Also involved in the metabolism of short-chain aldehydes. No steroid dehydrogenase activity detected. AF151840 4929633 RDH11 14 14q24.1 RDH11 HGNC:17964 true hsa:51109 HS01050-MONOMER NP_057110.3:NM_016026.3 Predominantly expressed in the epithelial cells of prostate, in both basal and luminal secretory cell populations. Expressed at low levels in spleen, thymus, testis, ovary, small intestine, colon, peripherical blood leukocytes, kidney, adrenal gland and fetal liver. Not detected in prostatic fibromuscular stromal cells, endothelial cells, or infiltrating lymphocytes. 2020-06-12T23:07:05Z 2020-07-28T02:27:51Z 1 0 0 2448 CDBP02447 Solute carrier family 2, facilitated glucose transporter member 2 P11168 GTR2_HUMAN true true Enzyme Homo_sapiens SLC2A2 524 57488.955 7.976 Involved in glucose transmembrane transporter activity Facilitative glucose transporter. This isoform likely mediates the bidirectional transfer of glucose across the plasma membrane of hepatocytes and is responsible for uptake of glucose by the beta cells; may comprise part of the glucose-sensing mechanism of the beta cell. May also participate with the Na(+)/glucose cotransporter in the transcellular transport of glucose in the small intestine and kidney. J03810 SLC2A2 3 3q26.1-q26.2 SLC2A2 HGNC:11006 true hsa:6514 NP_000331.1:NM_000340.1 Liver, insulin-producing beta cell, small intestine and kidney. 2020-06-12T23:07:05Z 2020-07-28T02:27:51Z 0 0 0 2449 CDBP02448 Mannosyl-oligosaccharide 1,2-alpha-mannosidase IC Q9NR34 MA1C1_HUMAN true false Enzyme Homo_sapiens MAN1C1 630 70910.025 7.465 Involved in mannosyl-oligosaccharide 1,2-alpha-mannosidase activity Involved in the maturation of Asn-linked oligosaccharides. Trim alpha-1,2-linked mannose residues from Man(9)GlcNAc(2) to produce first Man(8)GlcNAc(2) then Man(6)GlcNAc and a small amount of Man(5)GlcNAc. AF261655 9664312 MAN1C1 1 1p35 MAN1C1 HGNC:19080 true hsa:57134 NP_065112.1:NM_020379.2 Expressed in most tissues with the exception of lung, muscle and pancreas. Highly expressed in placenta. Calcium 2020-06-12T23:07:05Z 2020-07-28T02:27:51Z 0 1 0 2450 CDBP02449 Sodium/glucose cotransporter 4 Q2M3M2 SC5A9_HUMAN false true Transporter Homo_sapiens SLC5A9 681 74072.31 7.093 Involved in transporter activity Involved in sodium-dependent transport of D-mannose, D-glucose and D-fructose. AK131200 193785962 SLC5A9 1 1p33 SLC5A9 HGNC:22146 true hsa:200010 NP_001011547.2:NM_001011547.2;NP_001128653.1:NM_001135181.1 Expressed in the small intestine, kidney and liver. 2020-06-12T23:07:05Z 2020-07-28T02:32:10Z 0 0 0 2451 CDBP02450 Tryptophan 2,3-dioxygenase P48775 T23O_HUMAN true false Enzyme Homo_sapiens TDO2 406 47871.215 6.935 Involved in tryptophan 2,3-dioxygenase activity Incorporates oxygen into the indole moiety of tryptophan. Has a broad specificity towards tryptamine and derivatives including D- and L-tryptophan, 5-hydroxytryptophan and serotonin (By similarity). U32989 TDO2 4 4q31-q32 TDO2 HGNC:11708 true hsa:6999 HS07771-MONOMER NP_005642.1:NM_005651.3 heme groups per tetramer Homotetramer 2020-06-12T23:07:05Z 2020-07-28T02:27:51Z 0 1 0 2452 CDBP02451 Large neutral amino acids transporter small subunit 4 Q8N370 LAT4_HUMAN false false Enzyme Homo_sapiens SLC43A2 569 62746.3 8.0 Involved in transmembrane transport Sodium-, chloride, pH-independent high affinity transport of large neutral amino acids ["None"] ["20-40", "90-110", "120-140", "143-163", "177-197", "203-223", "323-345", "365-385", "435-455", "462-482", "490-510", "516-536"] NM_152346.1 22748751 SLC43A2 Chromosome:1 17p13.3 SLC43A2 HGNC:23087 true 2020-06-12T23:07:05Z 2020-07-28T02:33:48Z 0 0 0 2453 CDBP02452 Solute carrier organic anion transporter family member 2A1 Q92959 SO2A1_HUMAN false true Transporter Homo_sapiens SLCO2A1 643 70117.0 May mediate the release of newly synthesized prostaglandins from cells, the transepithelial transport of prostaglandins, and the clearance of prostaglandins from the circulation. Transports PGD2, as well as PGE1, PGE2 and PGF2A ["1-334"] ["27-47", "71-91", "101-121", "172-192", "210-230", "258-278", "328-348", "366-386", "400-420", "511-531", "551-571", "606-626"] U70867 1617590 SLCO2A1 Chromosome:3 3q21 SLCO2A1 HGNC:10955 true 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2454 CDBP02453 Solute carrier organic anion transporter family member 3A1 Q9UIG8 SO3A1_HUMAN false true Transporter Homo_sapiens SLCO3A1 710 76552.1 6.71 Involved in transporter activity Mediates the Na(+)-independent transport of organic anions such as estrone-3-sulfate (PubMed:10873595). Mediates transport of prostaglandins (PG) E1 and E2, thyroxine (T4), deltorphin II, BQ-123 and vasopressin, but not DPDPE (a derivative of enkephalin lacking an N-terminal tyrosine residue), estrone-3- sulfate, taurocholate, digoxin nor DHEAS (PubMed:16971491) ["None"] ["41-61", "80-100", "109-129", "179-199", "213-233", "265-285", "353-373", "390-410", "423-443", "542-562", "573-593", "625-645"] AB031050 6683741 SLCO3A1 Chromosome:1 15q26 SLCO3A1 HGNC:10952 true 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2455 CDBP02454 Prostaglandin E synthase 2 Q9H7Z7 PGES2_HUMAN true false Enzyme Homo_sapiens PTGES2 377 21337.205 6.703 Involved in electron carrier activity Isomerase that catalyzes the conversion of unstable intermediate of prostaglandin E2 H2 (PGH2) into the more stable prostaglandin E2 (PGE2) form. May also have transactivation activity toward IFN-gamma (IFNG), possibly via an interaction with CEBPB; however, the relevance of transcription activation activity remains unclear. AK024100 10436397 PTGES2 9 9q34.11 PTGES2 HGNC:17822 true hsa:80142 NP_001243264.1:NM_001256335.1;NP_079348.1:NM_025072.6;NP_945176.1:NM_198938.2 Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. Dihydrolipoic acid Homodimer. May interact with CEBPB . Interacts with EXOSC10 2020-06-12T23:07:05Z 2020-07-28T02:27:51Z 0 0 1 2456 CDBP02455 Cytidine deaminase P32320 CDD_HUMAN true false Enzyme Homo_sapiens CDA 146 16184.545 6.921 Involved in zinc ion binding This enzyme scavenge exogenous and endogenous cytidine and 2'-deoxycytidine for UMP synthesis. 1MQ0 L27943 598149 CDA 1 1p36.2-p35 CDA HGNC:1712 true hsa:978 NP_001776.1:NM_001785.2 Highly expressed in granulocytes while expression is very low in fibroblasts, chondrocytes, monocytes, and T- as well as B-cell lines. Zinc Homotetramer 2020-06-12T23:07:05Z 2020-07-28T02:27:51Z 1 1 0 2457 CDBP02456 Electroneutral sodium bicarbonate exchanger 1 Q2Y0W8 S4A8_HUMAN false true Transporter Homo_sapiens SLC4A8 1093 122936.7 6.67 Involved in anion transport Mediates electroneutral sodium- and carbonate-dependent choride-HCO3(-) exchange with a Na(+):HCO3(-) stoichiometry of 2:1. Plays a major role in pH regulation in neurons. May be involved in cell pH regulation by transporting HCO3(-) from blood to cell. Enhanced expression in severe acid stress could be important for cell survival by mediating the influx of HCO3(-) into the cells. Also mediates lithium-dependent HCO3(-) cotransport. May be regulated by osmolarity ["None"] ["479-499", "524-544", "566-586", "596-616", "688-708", "732-752", "779-799", "825-845", "882-902", "905-925", "963-983"] NM_001039960.1 90403614 SLC4A8 Chromosome:1 12q13.13 SLC4A8 HGNC:11034 true 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2458 CDBP02457 Electrogenic sodium bicarbonate cotransporter 4 Q9BY07 S4A5_HUMAN false true Transporter Homo_sapiens SLC4A5 1137 126254.0 7.98 Involved in anion transport Mediates sodium- and bicarbonate-dependent electrogenic sodium bicarbonate cotransport, with a Na(+):HCO3(-) stoichiometry of 2:1. May have a housekeeping function in regulating the pH of tissues in which it is expressed. May play a role in mediating Na(+):HCO3(-) cotransport in hepatocytes and intrahepatic cholangiocytes. Also may be important in protecting the renal paranchyma from alterations in urine pH ["None"] ["524-544", "567-587", "609-629", "640-660", "739-759", "777-797", "828-848", "874-894", "931-951", "953-973", "1012-1032", "1033-1053"] NM_021196.3 125987596 SLC4A5 Chromosome:2 2p13 SLC4A5 HGNC:18168 true 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2459 CDBP02458 Glutaredoxin-2, mitochondrial Q9NS18 GLRX2_HUMAN true false Enzyme Homo_sapiens GLRX2 164 18051.5 9.49 Involved in electron carrier activity Glutathione-dependent oxidoreductase that facilitates the maintenance of mitochondrial redox homeostasis upon induction of apoptosis by oxidative stress. Involved in response to hydrogen peroxide and regulation of apoptosis caused by oxidative stress. Acts as a very efficient catalyst of monothiol reactions because of its high affinity for protein glutathione-mixed disulfides. Can receive electrons not only from glutathione (GSH), but also from thioredoxin reductase supporting both monothiol and dithiol reactions. Efficiently catalyzes both glutathionylation and deglutathionylation of mitochondrial complex I, which in turn regulates the superoxide production by the complex. Overexpression decreases the susceptibility to apoptosis and prevents loss of cardiolipin and cytochrome c release ["None"] ["None"] AF132495 GLRX2 Chromosome:1 1q31.2-q31.3 GLRX2 HGNC:16065 true 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2460 CDBP02459 DNA (cytosine-5)-methyltransferase 1 P26358 DNMT1_HUMAN true false Enzyme Homo_sapiens DNMT1 1616 184817.425 7.859 Involved in DNA binding Methylates CpG residues. Preferentially methylates hemimethylated DNA. Associates with DNA replication sites in S phase maintaining the methylation pattern in the newly synthesized strand, that is essential for epigenetic inheritance. Associates with chromatin during G2 and M phases to maintain DNA methylation independently of replication. It is responsible for maintaining methylation patterns established in development. DNA methylation is coordinated with methylation of histones. Mediates transcriptional repression by direct binding to HDAC2. In association with DNMT3B and via the recruitment of CTCFL/BORIS, involved in activation of BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 and H3K9. 3EPZ;3PTA;3SWR X63692 1632819 DNMT1 19 19p13.2 DNMT1 HGNC:2976 true hsa:1786 NP_001124295.1:NM_001130823.1;NP_001370.1:NM_001379.2 Ubiquitous; highly expressed in fetal tissues, heart, kidney, placenta, peripheral blood mononuclear cells, and expressed at lower levels in spleen, lung, brain, small intestine, colon, liver, and skeletal muscle. Isoform 2 is less expressed than isoform 1. Binds to CSNK1D . Homodimer. Interacts with HDAC1 and with PCNA. Forms a complex with DMAP1 and HDAC2, with direct interaction. Forms also a stable complex with E2F1, BB1 and HDAC1. Binds MBD2 and MBD3. Component of complexes containing SUV39H1. Interacts with DNMT3A and DNMT3B. Interacts with the PRC2/EED-EZH2 complex. Interacts with UBC9 and BAZ2A/TIP5. Interacts with UHRF1; promoting its recruitment to hemimethylated DNA. Interacts with USP7, promoting its deubiquitination 2020-06-12T23:07:05Z 2020-07-28T02:27:52Z 0 1 1 2461 CDBP02460 Histone-lysine N-methyltransferase SETDB2 Q96T68 SETB2_HUMAN true false Enzyme Homo_sapiens SETDB2 719 80706.48 7.504 Involved in DNA binding Histone methyltransferase involved in left-right axis specification in early development and mitosis. Specifically trimethylates 'Lys-9' of histone H3 (H3K9me3). H3K9me3 is a specific tag for epigenetic transcriptional repression that recruits HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Contributes to H3K9me3 in both the interspersed repetitive elements and centromere-associated repeats. Plays a role in chromosome condensation and segregation during mitosis. AF334407 13699244 SETDB2 13 13q14 SETDB2 HGNC:20263 true hsa:83852 NP_001153780.1:NM_001160308.1;NP_114121.2:NM_031915.2 Ubiquitous. Highest expression in heart, testis and ovary. 2020-06-12T23:07:05Z 2020-07-28T02:27:52Z 0 1 1 2462 CDBP02461 S-adenosylmethionine mitochondrial carrier protein Q70HW3 SAMC_HUMAN true true Enzyme Homo_sapiens SLC25A26 274 20116.095 9.6 Involved in binding Mitochondrial solute carriers shuttle metabolites, nucleotides, and cofactors through the mitochondrial inner membrane. Specifically mediates the transport of S-adenosylmethionine (SAM) into the mitochondria. AJ580932 41351486 SLC25A26 3 3p14.1 SLC25A26 HGNC:20661 true hsa:115286 NP_001158268.1:NM_001164796.1;NP_775742.4:NM_173471.3 Widely expressed. Highly expressed in testis, with moderate expression in brain, heart, kidney, lung, skeletal muscle, pancreas, small intestine and liver, and low expression in spleen. 2020-06-12T23:07:05Z 2020-07-28T02:27:52Z 0 0 0 2463 CDBP02462 24-hydroxycholesterol 7-alpha-hydroxylase Q9NYL5 CP39A_HUMAN true false Enzyme Homo_sapiens CYP39A1 469 54115.29 8.643 Involved in monooxygenase activity Involved in the bile acid metabolism. Has a preference for 24-hydroxycholesterol, and converts it into a 7-alpha-hydroxylated product. AF237982 7533024 CYP39A1 6 6p21.1-p11.2 CYP39A1 HGNC:17449 true hsa:51302 NP_057677.2:NM_016593.3 Liver specific. Heme group 2020-06-12T23:07:05Z 2020-07-28T02:27:52Z 0 1 0 2464 CDBP02463 Inositol-3-phosphate synthase 1 Q9NPH2 INO1_HUMAN true false Enzyme Homo_sapiens ISYNA1 558 55135.445 5.035 Involved in inositol-3-phosphate synthase activity Key enzyme in myo-inositol biosynthesis pathway that catalyzes the conversion of glucose 6-phosphate to 1-myo-inositol 1-phosphate in a NAD-dependent manner. Rate-limiting enzyme in the synthesis of all inositol-containing compounds. NM_016368.4 7705558 ISYNA1 19 19p13.11 ISYNA1 HGNC:29821 true hsa:51477 NP_001164409.1:NM_001170938.1;NP_001240318.1:NM_001253389.1;NP_057452.1:NM_016368.4 Highly expressed in testis, ovary, heart, placenta and pancreas. Weakly expressed in blood leukocyte, thymus, skeletal muscle and colon. NAD 2020-06-12T23:07:05Z 2020-07-28T02:27:52Z 0 0 0 2465 CDBP02464 Alpha-(1,6)-fucosyltransferase Q9BYC5 FUT8_HUMAN true false Enzyme Homo_sapiens FUT8 575 66515.32 7.657 Involved in glycoprotein 6-alpha-L-fucosyltransferase activity Catalyzes the addition of fucose in alpha 1-6 linkage to the first GlcNAc residue, next to the peptide chains in N-glycans. 2DE0 NM_178154.1 30410724 FUT8 14 14q24.3 FUT8 HGNC:4019 true hsa:2530 NP_835368.1:NM_178155.2;NP_835369.1:NM_178156.2 2020-06-12T23:07:05Z 2020-07-28T02:27:52Z 1 0 0 2466 CDBP02465 Hydroxyacylglutathione hydrolase-like protein Q6PII5 HAGHL_HUMAN true false Enzyme Homo_sapiens HAGHL 290 Involved in hydrolase activity Hydrolase acting on ester bonds (Potential). NM_207112.1 46361987 HAGHL HAGHL HGNC:14177 true hsa:84264 NP_115680.1:NM_032304.2 zinc ions 2020-06-12T23:07:05Z 2020-07-28T02:27:52Z 0 1 0 2467 CDBP02466 Neutral alpha-glucosidase C Q8TET4 GANC_HUMAN true false Enzyme Homo_sapiens GANC 914 Involved in catalytic activity Has alpha-glucosidase activity. NM_198141.2 66346737 GANC GANC HGNC:4139 true hsa:2595 NP_937784.2:NM_198141.2 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2468 CDBP02467 Citrate lyase subunit beta-like protein, mitochondrial Q8N0X4 CLYBL_HUMAN true false Enzyme Homo_sapiens CLYBL 340 37359.0 9.12 Involved in citrate (pro-3S)-lyase activity ["None"] ["None"] AF428253 19073013 CLYBL Chromosome:1 13q32 CLYBL HGNC:18355 true 2020-06-12T23:07:05Z 2020-07-28T02:27:52Z 0 0 0 2469 CDBP02468 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase Q9UNU6 CP8B1_HUMAN true false Enzyme Homo_sapiens CYP8B1 501 58068.01 8.663 Involved in monooxygenase activity Involved in bile acid synthesis and is responsible for the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7 alpha, 12 alpha-dihydroxy-4-cholesten-3-one. Responsible for the balance between formation of cholic acid and chenodeoxycholic acid. Has a rather broad substrate specificity including a number of 7-alpha-hydroxylated C27 steroids. AF090320 4406150 CYP8B1 3 3p22.1 CYP8B1 HGNC:2653 true hsa:1582 NP_004382.2:NM_004391.2 Liver. Heme group 2020-06-12T23:07:05Z 2020-07-28T02:27:52Z 0 1 0 2470 CDBP02469 Type I inositol 3,4-bisphosphate 4-phosphatase Q96PE3 INP4A_HUMAN true false Enzyme Homo_sapiens INPP4A 977 109954.68 6.964 Involved in phosphatidyl-inositol-4,5-bisphosphate 4-ph Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4-trisphosphate and inositol 3,4-bisphosphate. NM_001134224.1 197116359 INPP4A 2 2q11.2 INPP4A HGNC:6074 true hsa:3631 HS00551-MONOMER NP_001127696.1:NM_001134224.1;NP_001127697.1:NM_001134225.1;NP_001557.1:NM_001566.2;NP_004018.1:NM_004027.2 Isoform 1 is expressed in the platelets, MEG-01 megakaryocytes and Jurkat T-cells. Isoform 2 is expressed in the brain. 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2471 CDBP02470 Retinol dehydrogenase 10 Q8IZV5 RDH10_HUMAN true false Enzyme Homo_sapiens RDH10 341 38087.16 7.4 Involved in oxidoreductase activity Retinol dehydrogenase with a clear preference for NADP. Converts all-trans-retinol to all-trans-retinal. Has no detectable activity towards 11-cis-retinol, 9-cis-retinol and 13-cis-retinol. AF456765 24817402 RDH10 8 8q21.11 RDH10 HGNC:19975 true hsa:157506 ENSG00000121039-MONOMER NP_742034.1:NM_172037.4 Detected in retina, kidney, liver, small intestine, placenta, lung, heart and skeletal muscle. 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2472 CDBP02471 Exostosin-like 2 Q9UBQ6 EXTL2_HUMAN true false Enzyme Homo_sapiens EXTL2 330 37465.365 8.947 Involved in transferase activity, transferring hexosyl groups Glycosyltransferase required for the biosynthesis of heparan-sulfate and responsible for the alternating addition of beta-1-4-linked glucuronic acid (GlcA) and alpha-1-4-linked N-acetylglucosamine (GlcNAc) units to nascent heparan sulfate chains. AF000416 2895062 EXTL2 1 1p21 EXTL2 HGNC:3516 true hsa:2135 HS08719-MONOMER NP_001028197.1:NM_001033025.2;NP_001430.1:NM_001439.3 Ubiquitous. 2020-06-12T23:07:05Z 2020-07-28T02:27:52Z 0 1 0 2473 CDBP02472 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 Q8NFL0 B3GN7_HUMAN true false Enzyme Homo_sapiens B3GNT7 401 45986.9 9.29 Involved in galactosyltransferase activity May be involved in keratane sulfate biosynthesis. Transfers N-acetylgalactosamine on to keratan sulfate-related glycans. May play a role in preventing cells from migrating out of the original tissues and invading surrounding tissues ["None"] ["7-26"] AC017104 62988859 B3GNT7 Chromosome:2 2q37.1 B3GNT7 HGNC:18811 true 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2474 CDBP02473 Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A Q9UM21 MGT4A_HUMAN true false Enzyme Homo_sapiens MGAT4A 535 48945.98 5.745 Involved in transferase activity, transferring hexosyl groups Glycosyltransferase that participates in the transfer of N-acetylglucosamine (GlcNAc) to the core mannose residues of N-linked glycans. Catalyzes the formation of the GlcNAcbeta1-4 branch on the GlcNAcbeta1-2Manalpha1-3 arm of the core structure of N-linked glycans. Essential for the production of tri- and tetra-antennary N-linked sugar chains. Involved in glucose transport by mediating SLC2A2/GLUT2 glycosylation, thereby controlling cell-surface expression of SLC2A2 in pancreatic beta cells. AB000616 MGAT4A 2 2q12 MGAT4A HGNC:7047 true hsa:11320 NP_001153626.1:NM_001160154.1;NP_036346.1:NM_012214.2 Expressed in pancreas, spleen, thymus, prostate, small intestine, peripheral blood leukocytes and lymph node. Strongly overexpressed in choriocarcinoma cancer cell lines. Down-regulated in pancreatic cancer. Divalent metal cations 2020-06-12T23:07:05Z 2020-07-28T02:27:53Z 0 1 0 2475 CDBP02474 Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B Q9UQ53 MGT4B_HUMAN true false Enzyme Homo_sapiens MGAT4B 548 63197.845 7.873 Involved in transferase activity, transferring hexosyl groups Glycosyltransferase that participates in the transfer of N-acetylglucosamine (GlcNAc) to the core mannose residues of N-linked glycans. Catalyzes the formation of the GlcNAcbeta1-4 branch on the GlcNAcbeta1-2Manalpha1-3 arm of the core structure of N-linked glycans. Essential for the production of tri- and tetra-antennary N-linked sugar chains. Has lower affinities for donors or acceptors than MGAT4A, suggesting that, under physiological conditions, it is not the main contributor in N-glycan biosynthesis. AB000624 5748487 MGAT4B 5 5q35 MGAT4B HGNC:7048 true hsa:11282 NP_055090.1:NM_014275.4;NP_463459.1:NM_054013.3 Widely expressed. Strongly overexpressed in pancreatic cancer. Divalent metal cations 2020-06-12T23:07:05Z 2020-07-28T02:27:53Z 0 1 0 2476 CDBP02475 Lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase Q9BYG0 B3GN5_HUMAN true false Enzyme Homo_sapiens B3GNT5 378 44052.295 7.899 Involved in galactosyltransferase activity Beta-1,3-N-acetylglucosaminyltransferase that plays a key role in the synthesis of lacto- or neolacto-series carbohydrate chains on glycolipids, notably by participating in biosynthesis of HNK-1 and Lewis X carbohydrate structures. Has strong activity toward lactosylceramide (LacCer) and neolactotetraosylceramide (nLc(4)Cer; paragloboside), resulting in the synthesis of Lc(3)Cer and neolactopentaosylceramide (nLc(5)Cer), respectively. Probably plays a central role in regulating neolacto-series glycolipid synthesis during embryonic development. AB045278 13568434 B3GNT5 3 3q28 B3GNT5 HGNC:15684 true hsa:84002 NP_114436.1:NM_032047.4 Widely expressed. Highly expressed in lung, colon, placenta, testis, pituitary gland and cerebellum. Weakly expressed in brain, liver, spleen, lymph node and thymus. 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2477 CDBP02476 Uridine phosphorylase 1 Q16831 UPP1_HUMAN true false Enzyme Homo_sapiens UPP1 310 33934.005 7.886 Involved in transferase activity, transferring pentosyl groups Catalyzes the reversible phosphorylytic cleavage of uridine and deoxyuridine to uracil and ribose- or deoxyribose-1-phosphate. The produced molecules are then utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis. 3EUE;3EUF;3NBQ X90858 1050525 UPP1 7 7p12.3 UPP1 HGNC:12576 true hsa:7378 NP_003355.1:NM_003364.2;NP_853628.1:NM_181597.1 Homodimer 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2478 CDBP02477 Uridine phosphorylase 2 O95045 UPP2_HUMAN true false Enzyme Homo_sapiens UPP2 317 41601.795 6.4 Involved in transferase activity, transferring pentosyl groups Catalyzes the reversible phosphorylytic cleavage of uridine and deoxyuridine to uracil and ribose- or deoxyribose-1-phosphate. The produced molecules are then utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis. Shows substrate specificity and accept uridine, deoxyuridine, and thymidine as well as the two pyrimidine nucleoside analogs 5-fluorouridine and 5-fluoro-2(')-deoxyuridine as substrates. 2XRF;3P0E;3P0F AC005539 4204340 UPP2 2 2q24.1 UPP2 HGNC:23061 true hsa:151531 NP_001128570.1:NM_001135098.1;NP_775491.1:NM_173355.3 Predominantly expressed in kidney. 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2479 CDBP02478 Putative small intestine sodium-dependent phosphate transport protein Q9Y2C5 S17A4_HUMAN false false Enzyme Homo_sapiens SLC17A4 497 54054.61 7.49 Involved in transmembrane transport May be involved in actively transporting phosphate into cells via Na(+) cotransport (By similarity). AB020527 4587207 SLC17A4 6 6p22.2 SLC17A4 HGNC:10932 true hsa:10050 NP_005486.1:NM_005495.2 Expressed intestine, colon, liver and pancreas. 2020-06-12T23:07:05Z 2020-07-28T02:33:48Z 0 0 0 2480 CDBP02479 Sphingomyelin phosphodiesterase 3 Q9NY59 NSMA2_HUMAN true false Enzyme Homo_sapiens SMPD3 655 71080.1 5.786 Involved in metal ion binding Catalyzes the hydrolysis of sphingomyelin to form ceramide and phosphocholine. Ceramide mediates numerous cellular functions, such as apoptosis and growth arrest, and is capable of regulating these 2 cellular events independently. Also hydrolyzes sphingosylphosphocholine. Regulates the cell cycle by acting as a growth suppressor in confluent cells. Probably acts as a regulator of postnatal development and participates in bone and dentin mineralization. AJ250460 8247250 SMPD3 16 16q22.1 SMPD3 HGNC:14240 true hsa:55512 NP_061137.1:NM_018667.3 Predominantly expressed in brain. Magnesium 2020-06-12T23:07:05Z 2020-07-28T02:27:53Z 0 1 0 2481 CDBP02480 Solute carrier family 13 member 5 Q86YT5 S13A5_HUMAN false true Transporter Homo_sapiens SLC13A5 568 63061.6 8.33 Involved in transporter activity High-affinity sodium/citrate cotransporter that mediates citrate entry into cells. The transport process is electrogenic; it is the trivalent form of citrate rather than the divalent form that is recognized as a substrate. May facilitate the utilization of circulating citrate for the generation of metabolic energy and for the synthesis of fatty acids and cholesterol ["None"] ["13-33", "53-73", "80-100", "124-144", "215-235", "252-272", "311-331", "353-373", "406-426", "439-459", "487-507", "528-548"] AK172785 47077779 SLC13A5 Chromosome:1 17p13.1 SLC13A5 HGNC:23089 true 2020-06-12T23:07:05Z 2020-07-28T02:32:10Z 0 0 0 2482 CDBP02481 Sodium-coupled monocarboxylate transporter 2 Q1EHB4 SC5AC_HUMAN false true Transporter Homo_sapiens SLC5A12 618 67646.4 8.16 Involved in transporter activity Acts as an electroneutral and low-affinity sodium (Na(+))-dependent sodium-coupled solute transporter. Catalyzes the transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, nicotinate, propionate, butyrate and beta-D- hydroxybutyrate. May be responsible for the first step of reabsorption of monocarboxylates from the lumen of the proximal tubule of the kidney and the small intestine. May play also a role in monocarboxylates transport in the retina. Mediates electroneutral uptake of lactate, with a stoichiometry of 2 Na(+) for each lactate ["None"] ["10-30", "48-68", "83-103", "129-149", "158-178", "181-201", "236-256", "276-296", "322-342", "386-406", "412-432", "438-458", "505-525"] NM_178498.3 157671931 SLC5A12 Chromosome:1 11p14.2 SLC5A12 HGNC:28750 true 2020-06-12T23:07:05Z 2020-07-28T02:32:10Z 0 0 0 2483 CDBP02482 Sodium/glucose cotransporter 5 A0PJK1 SC5AA_HUMAN false true Transporter Homo_sapiens SLC5A10 596 64341.795 7.612 Involved in transporter activity High capacity transporter for mannose and fructose and, to a lesser extent, glucose, AMG, and galactose. NM_001042450.1 109659836 SLC5A10 17 17p11.2 SLC5A10 HGNC:23155 true hsa:125206 NP_001035915.1:NM_001042450.2;NP_001257577.1:NM_001270648.1;NP_001257578.1:NM_001270649.1;NP_689564.3:NM_152351.4 Seems to be exclusively expressed in kidney. 2020-06-12T23:07:05Z 2020-07-28T02:32:10Z 0 0 0 2484 CDBP02483 Sodium/myo-inositol cotransporter 2 Q8WWX8 SC5AB_HUMAN false true Transporter Homo_sapiens SLC5A11 675 69906.495 6.145 Involved in transporter activity Involved in the sodium-dependent cotransport of myo-inositol (MI) with a Na(+):MI stoichiometry of 2:1. Exclusively responsible for apical MI transport and absorption in intestine. Also can transport D-chiro-inositol (DCI) but not L-fructose. Exhibits stereospecific cotransport of both D-glucose and D-xylose. May induce apoptosis through the TNF-alpha, PDCD1 pathway. May play a role in the regulation of MI concentration in serum, involving reabsorption in at least the proximal tubule of the kidney. AF292385 15419543 SLC5A11 16 16p12.1 SLC5A11 HGNC:23091 true hsa:115584 NP_001245340.1:NM_001258411.1;NP_001245341.1:NM_001258412.1;NP_001245342.1:NM_001258413.1;NP_001245343.1:NM_001258414.1;NP_443176.2:NM_052944.3 Highest expression in heart, skeletal muscle, kidney, liver and placenta. Weaker expression in brain, colon, spleen, lung and peripheral blood leukocytes. 2020-06-12T23:07:05Z 2020-07-28T02:32:10Z 0 0 0 2485 CDBP02484 Long-chain fatty acid transport protein 4 Q6P1M0 S27A4_HUMAN true false Enzyme Homo_sapiens SLC27A4 643 72063.6 8.58 Involved in catalytic activity Involved in translocation of long-chain fatty acids (LFCA) across the plasma membrane. Appears to be the principal fatty acid transporter in small intestinal enterocytes. Plays a role in the formation of the epidermal barrier. Required for fat absorption in early embryogenesis. Has acyl-CoA ligase activity for long-chain and very-long-chain fatty acids ["None"] ["20-42", "139-156"] NM_005094.3 40807357 SLC27A4 Chromosome:9 9q34.11 SLC27A4 HGNC:10998 true 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2486 CDBP02485 Sodium/hydrogen exchanger 4 Q6AI14 SL9A4_HUMAN false true Transporter Homo_sapiens SLC9A4 798 89813.4 8.72 Involved in solute:hydrogen antiporter activity Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction. May play a specialized role in the kidney in rectifying cell volume in response to extreme fluctuations of hyperosmolar-stimulated cell shrinkage. Is relatively amiloride and ethylisopropylamiloride (EIPA) insensitive. Can be activated under conditions of hyperosmolar-induced cell shrinkage in a sustained intracellular acidification-dependence manner. Activated by 4,4'-diisothiocyanostilbene-2,2'-disulfonic acid (DIDS) in a sustained intracellular acidification-dependence manner. Affects potassium/proton exchange as well as sodium/proton and lithium/proton exchange. In basolateral cell membrane, participates in homeostatic control of intracellular pH, and may play a role in proton extrusion in order to achieve transepithelial HCO3(-) secretion. In apical cell membrane may be involved in mediating sodium absorption. Requires for normal levels of gastric acid secretion, secretory membrane development, parietal cell maturation and/or differentiation and at least secondarily for chief cell differentiation ["None"] ["95-115", "128-148", "155-175", "197-217", "227-247", "271-291", "305-325", "357-373", "385-405", "451-471"] NM_001011552.3 148727259 SLC9A4 Chromosome:2 2q12.1 SLC9A4 HGNC:11077 true 2020-06-12T23:07:05Z 2020-07-28T02:32:10Z 0 0 0 2487 CDBP02486 Beta-1,3-galactosyltransferase 5 Q9Y2C3 B3GT5_HUMAN true false Enzyme Homo_sapiens B3GALT5 310 36188.9 9.02 Involved in galactosyltransferase activity Catalyzes the transfer of Gal to GlcNAc-based acceptors with a preference for the core3 O-linked glycan GlcNAc(beta1,3)GalNAc structure. Can use glycolipid LC3Cer as an efficient acceptor ["None"] ["8-28"] AB020337 4835503 B3GALT5 Chromosome:2 21q22.3 B3GALT5 HGNC:920 true 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2488 CDBP02487 Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 Q9NS00 C1GLT_HUMAN true false Enzyme Homo_sapiens C1GALT1 363 42202.5 6.638 Involved in transferase activity, transferring glycosyl groups Glycosyltransferase that generates the core 1 O-glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Plays a central role in many processes, such as angiogenesis, thrombopoiesis and kidney homeostasis development. AC005532 37674437 C1GALT1 7 7p21.3 C1GALT1 HGNC:24337 true hsa:56913 NP_064541.1:NM_020156.4 Widely expressed. Highly expressed in kidney, heart, placenta and liver. Magnesium Homodimer; disulfide-linked . Interacts with the C1GALT1C1 chaperone; required for galactosyltransferase activity 2020-06-12T23:07:05Z 2020-07-28T02:27:53Z 0 1 0 2489 CDBP02488 Cytochrome c oxidase subunit 3 P00414 COX3_HUMAN true false Enzyme Homo_sapiens MT-CO3 261 29950.6 7.34 Involved in cytochrome-c oxidase activity Subunits I, II and III form the functional core of the enzyme complex ["None"] ["15-35", "42-59", "81-101", "127-147", "159-179", "197-217", "239-259"] J01415 MT-CO3 MT-CO3 HGNC:7422 true 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2490 CDBP02489 Cytochrome c oxidase subunit 2 P00403 COX2_HUMAN true false Enzyme Homo_sapiens MT-CO2 227 25564.7 4.44 Involved in copper ion binding Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Subunits 1- 3 form the functional core of the enzyme complex. Subunit 2 transfers the electrons from cytochrome c via its binuclear copper A center to the bimetallic center of the catalytic subunit 1 ["None"] ["27-48", "63-82"] X15759 12584 MT-CO2 MT-CO2 HGNC:7421 true 2020-06-12T23:07:05Z 2020-07-28T02:27:53Z 0 1 0 2491 CDBP02490 Cytochrome c oxidase subunit 6A1, mitochondrial P12074 CX6A1_HUMAN true false Enzyme Homo_sapiens COX6A1 109 12154.8 9.7 Involved in cytochrome-c oxidase activity This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport ["None"] ["None"] AK312009 189065224 COX6A1 Chromosome:1 12q24.2|12q24.2 COX6A1 HGNC:2277 true 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2492 CDBP02491 Cytochrome c oxidase subunit 4 isoform 2, mitochondrial Q96KJ9 COX42_HUMAN true false Enzyme Homo_sapiens COX4I2 171 20010.0 10.13 Involved in cytochrome-c oxidase activity This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport ["None"] ["None"] AF257180 13925310 COX4I2 Chromosome:2 20q11.21 COX4I2 HGNC:16232 true 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2493 CDBP02492 Dual oxidase 1 Q9NRD9 DUOX1_HUMAN true false Enzyme Homo_sapiens DUOX1 1551 177233.45 7.904 Involved in calcium ion binding Generates hydrogen peroxide which is required for the activity of thyroid peroxidase/TPO and lactoperoxidase/LPO. Plays a role in thyroid hormones synthesis and lactoperoxidase-mediated antimicrobial defense at the surface of mucosa. May have its own peroxidase activity through its N-terminal peroxidase-like domain. NM_017434.3 20149640 DUOX1 15 15q15.3 DUOX1 HGNC:3062 true hsa:53905 NP_059130.2:NM_017434.3;NP_787954.1:NM_175940.1 Expressed in thyrocytes and tracheal surface epithelial cells (at protein level). Expressed in thyroid, trachea, bronchium, and to a lower extent, in placenta, testis, prostate, pancreas and heart. Interacts with TXNDC11, TPO and CYBA 2020-06-12T23:07:05Z 2020-07-28T02:27:54Z 0 1 0 2494 CDBP02493 Thioredoxin reductase 3 Q86VQ6 TRXR3_HUMAN true false Enzyme Homo_sapiens TXNRD3 682 66600.92 8.314 Involved in oxidoreductase activity Displays thioredoxin reductase, glutaredoxin and glutathione reductase activities. Catalyzes disulfide bond isomerization. Promotes disulfide bond formation between GPX4 and various sperm proteins and may play a role in sperm maturation by promoting formation of sperm structural components (By similarity). 3H8Q 291045266 TXNRD3 3 3q21.3 TXNRD3 HGNC:20667 true hsa:114112 NP_001166984.1:NM_001173513.1;NP_443115.1:NM_052883.1 FAD Homodimer 2020-06-12T23:07:05Z 2020-07-28T02:27:54Z 0 0 0 2495 CDBP02494 Ribulose-phosphate 3-epimerase Q96AT9 RPE_HUMAN true false Enzyme Homo_sapiens RPE 228 19537.385 6.083 Involved in catalytic activity Catalyzes the reversible epimerization of D-ribulose 5-phosphate to D-xylulose 5-phosphate. 3OVP;3OVQ;3OVR;3QC3 NM_199229.1 40385883 RPE 2 2q32-q33.3 RPE HGNC:10293 true hsa:6120 NP_008847.1:NM_006916.1;NP_954699.1:NM_199229.1 divalent metal cation . Contains tightly bound Fe(2+) when produced in E.coli, but the physiological cofactor may be Co(2+), Mn(2+) or Zn(2+) Homodimer 2020-06-12T23:07:05Z 2020-07-28T02:27:54Z 0 1 0 2496 CDBP02495 Mitochondrial glutamate carrier 1 Q9H936 GHC1_HUMAN true true Enzyme Homo_sapiens SLC25A22 323 34469.85 9.295 Involved in transporter activity Involved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is cotransported with H(+). AJ428202 21322705 SLC25A22 11 11p15.5 SLC25A22 HGNC:19954 true hsa:79751 NP_001177989.1:NM_001191060.1;NP_001177990.1:NM_001191061.1;NP_078974.1:NM_024698.5 Highly expressed in most tissues. 2020-06-12T23:07:05Z 2020-07-28T02:27:54Z 0 0 0 2497 CDBP02496 tRNA (cytosine(34)-C(5))-methyltransferase Q08J23 NSUN2_HUMAN true false Enzyme Homo_sapiens NSUN2 767 82392.405 7.002 Involved in tRNA (cytosine-5-)-methyltransferase activity RNA methyltransferase that methylates tRNAs, and possibly RNA polymerase III transcripts. Methylates cytosine to 5-methylcytosine (m5C) at position 34 of intron-containing tRNA(Leu)(CAA) precursors. Not able to modify tRNAs at positions 48 or 49. May act downstream of Myc to regulate epidermal cell growth and proliferation. Required for proper spindle assembly and chromosome segregation, independently of its methyltransferase activity. AB255451 115501316 NSUN2 5 5p15.31 NSUN2 HGNC:25994 true hsa:54888 HS12087-MONOMER NP_001180384.1:NM_001193455.1;NP_060225.4:NM_017755.5 Interacts with NPM1 and NCL during interphase; interaction is disrupted following phosphorylation at Ser-139 2020-06-12T23:07:05Z 2020-07-28T02:27:54Z 0 0 0 2498 CDBP02497 Carbohydrate sulfotransferase 15 Q7LFX5 CHSTF_HUMAN true false Enzyme Homo_sapiens CHST15 561 64925.66 8.301 Involved in sulfotransferase activity Sulfotransferase that transfers sulfate from 3'-phosphoadenosine 5'-phosphosulfate (PAPS) to the C-6 hydroxyl group of the GalNAc 4-sulfate residue of chondroitin sulfate A and forms chondroitin sulfate E containing GlcA-GalNAc(4,6-SO(4)) repeating units. It also transfers sulfate to a unique non-reducing terminal sequence, GalNAc(4SO4)-GlcA(2SO4)-GalNAc(6SO4), to yield a highly sulfated structure similar to the structure found in thrombomodulin chondroitin sulfate. May also act as a B-cell receptor involved in BCR ligation-mediated early activation that mediate regulatory signals key to B-cell development and/or regulation of B-cell-specific RAG expression; however such results are unclear in vivo. NM_015892.3 45505173 CHST15 10 10q26 CHST15 HGNC:18137 true hsa:51363 HS11694-MONOMER NP_001257693.1:NM_001270764.1;NP_001257694.1:NM_001270765.1;NP_056976.2:NM_015892.4 Expressed in B-cell-enriched tissues but not in fetal or adult thymus. Expressed in fetal and adult spleen, lymph node, tonsil, bone marrow and peripheral leukocytes. Not expressed in T-cells. In pro-B, pre-B, and mature B-cell lines, it colocalizes with RAG1. Divalent metal cations;Glutathione Homodimer; disulfide-linked . The relevance of homodimerization is however unsure. May interact with phosphorylated proteins in resting B-cells, including HCK 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2499 CDBP02498 A disintegrin and metalloproteinase with thrombospondin motifs 1 Q9UHI8 ATS1_HUMAN true false Enzyme Homo_sapiens ADAMTS1 967 105356.8 6.82 Involved in metalloendopeptidase activity Cleaves aggrecan, a cartilage proteoglycan, and may be involved in its turnover. Has angiogenic inhibitor activity. Active metalloprotease, which may be associated with various inflammatory processes as well as development of cancer cachexia. May play a critical role in follicular rupture ["1-49"] ["None"] NM_006988.3 50845384 ADAMTS1 Chromosome:2 21q21.2 ADAMTS1 HGNC:217 true 2020-06-12T23:07:05Z 2020-07-28T02:27:54Z 0 1 0 2500 CDBP02499 Transketolase-like protein 2 Q9H0I9 TKTL2_HUMAN true false Enzyme Homo_sapiens TKTL2 626 67876.625 6.332 Involved in catalytic activity Plays an essential role in total transketolase activity and cell proliferation in cancer cells; after transfection with anti-TKTL1 siRNA, total transketolase activity dramatically decreases and proliferation was significantly inhibited in cancer cells. Plays a pivotal role in carcinogenesis. AL136779 12053071 TKTL2 4 4q32.2 TKTL2 HGNC:25313 true hsa:84076 NP_115512.3:NM_032136.4 Overexpressed in hepatoma cancer cells. magnesium ion . Can also utilize other divalent metal cations, such as Ca(2+), Mn(2+) and Co(2+);thiamine pyrophosphate Homodimer 2020-06-12T23:07:05Z 2020-07-28T02:27:54Z 0 1 0 2501 CDBP02500 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B Q8TCJ2 STT3B_HUMAN true false Enzyme Homo_sapiens STT3B 826 93673.495 8.911 Involved in oligosaccharyl transferase activity Catalytic subunit of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). STT3B is present in a small subset of OST complexes and mediates both cotranslational and post-translational N-glycosylation of target proteins: STT3B-containing complexes are required for efficient cotranslational glycosylation and while they are less competent than STT3A-containing complexes for cotranslational glycosylation, they have the ability to mediate glycosylation of some nascent sites that are not accessible for STT3A. STT3B-containing complexes also act post-translationally and mediate modification of skipped glycosylation sites in unfolded proteins. Plays a role in ER-associated degradation (ERAD) pathway that mediates ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins by mediating N-glycosylation of unfolded proteins, which are then recognized by the ERAD pathway and targeted for degradation. Mediates glycosylation of the disease variant AMYL-TTR 'Asp-38' of TTR at 'Asn-118', leading to its degradation. NM_178862.1 30578410 STT3B 3 3p23 STT3B HGNC:30611 true hsa:201595 NP_849193.1:NM_178862.1 Expressed in heart, brain, placenta, lung, liver, muscle, kidney and pancreas. Expressed in skin fibroblasts (at protein level). Component of the oligosaccharyltransferase (OST) complex . OST seems to exist in different forms which contain at least RPN1, RPN2, OST48, DAD1, OSTC, KRTCAP2 and either STT3A or STT3B. OST can form stable complexes with the Sec61 complex or with both the Sec61 and TRAP complexes 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2502 CDBP02501 Beta-1,4-galactosyltransferase 6 Q9UBX8 B4GT6_HUMAN true false Enzyme Homo_sapiens B4GALT6 382 44913.315 8.425 Involved in transferase activity, transferring glycosyl groups Required for the biosynthesis of glycosphingolipids. AB024742 6521693 B4GALT6 18 18q11 B4GALT6 HGNC:929 true hsa:9331 ENSG00000118276-MONOMER NP_004766.2:NM_004775.3 High expression in brain and adrenal gland, lower in liver, lung, colon and peripheral white blood cells. Manganese or magnesium 2020-06-12T23:07:05Z 2020-07-28T02:27:54Z 0 1 0 2503 CDBP02502 3-hydroxybutyrate dehydrogenase type 2 Q9BUT1 BDH2_HUMAN true false Enzyme Homo_sapiens BDH2 245 26723.57 7.651 Involved in oxidoreductase activity Dehydrogenase that mediates the formation of 2,5-dihydroxybenzoic acid (2,5-DHBA), a siderophore that shares structural similarities with bacterial enterobactin and associates with LCN2, thereby playing a key role in iron homeostasis and transport. Also acts as a 3-hydroxybutyrate dehydrogenase (By similarity). 2AG5 NM_020139.3 66933014 BDH2 4 4q24 BDH2 HGNC:32389 true hsa:56898 HS08987-MONOMER NP_064524.3:NM_020139.3 Homotetramer 2020-06-12T23:07:05Z 2020-07-28T02:27:54Z 0 0 0 2504 CDBP02503 Glycerol-3-phosphate dehydrogenase 1-like protein Q8N335 GPD1L_HUMAN true true Enzyme Homo_sapiens GPD1L 351 38418.44 7.023 Involved in oxidoreductase activity Plays a role in regulating cardiac sodium current; decreased enzymatic activity with resulting increased levels of glycerol 3-phosphate activating the DPD1L-dependent SCN5A phosphorylation pathway, may ultimately lead to decreased sodium current; cardiac sodium current may also be reduced due to alterations of NAD(H) balance induced by DPD1L. 2PLA AK292808 158259077 GPD1L 3 3p22.3 GPD1L HGNC:28956 true hsa:23171 NP_055956.1:NM_015141.3 Most highly expressed in heart tissue, with lower levels in the skeletal muscle, kidney, lung and other organs. Interacts with SCN5A 2020-06-12T23:07:05Z 2020-07-28T02:27:54Z 0 0 0 2505 CDBP02504 Probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2 Q9H903 MTD2L_HUMAN true false Enzyme Homo_sapiens MTHFD2L 289 37315.11 9.33 Involved in catalytic activity 222418558 MTHFD2L 4 4q13.3 MTHFD2L HGNC:31865 true hsa:441024 NP_001138450.1:NM_001144978.1 Isoform 1, isoform 4 and isoform 5 are expressed in brain and placenta. Magnesium 2020-06-12T23:07:05Z 2020-07-28T02:27:54Z 0 0 0 2506 CDBP02505 NADH-cytochrome b5 reductase 1 Q9UHQ9 NB5R1_HUMAN true false Enzyme Homo_sapiens CYB5R1 305 34094.57 9.378 Involved in oxidoreductase activity NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction (By similarity). AF087912 33150662 CYB5R1 1 1q32.1 CYB5R1 HGNC:13397 true hsa:51706 NP_057327.2:NM_016243.2 Widely expressed. FAD 2020-06-12T23:07:05Z 2020-07-28T02:27:54Z 0 0 0 2507 CDBP02506 NADH-cytochrome b5 reductase 2 Q6BCY4 NB5R2_HUMAN true false Enzyme Homo_sapiens CYB5R2 276 31457.995 8.5 Involved in oxidoreductase activity NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction (By similarity). Responsible for NADH-dependent lucigenin chemiluminescence in spermatozoa by reducing both lucigenin and 2-[4-iodophenyl]-3-[4-nitrophenyl]-5-[2,4-disulfophenyl]-2H tetrazolium monosodium salt (WST-1). AF169802 6166390 CYB5R2 11 11p15.4 CYB5R2 HGNC:24376 true hsa:51700 NP_057313.2:NM_016229.3 Restricted expression. FAD 2020-06-12T23:07:05Z 2020-07-28T02:27:54Z 0 0 0 2508 CDBP02507 Cytochrome b5 reductase 4 Q7L1T6 NB5R4_HUMAN true false Enzyme Homo_sapiens CYB5R4 521 59473.19 7.724 Involved in heme binding NADH-cytochrome b5 reductase involved in endoplasmic reticulum stress response pathway. Plays a critical role in protecting pancreatic beta-cells against oxidant stress, possibly by protecting the cell from excess buildup of reactive oxygen species (ROS). Reduces a variety of substrates in vitro, such as cytochrome c, feericyanide and methemoglobin. 3LF5 NM_016230.3 84875541 CYB5R4 6 6pter-q22.33 CYB5R4 HGNC:20147 true hsa:51167 NP_057314.2:NM_016230.3 Widely expressed. FAD 2020-06-12T23:07:05Z 2020-07-28T02:27:55Z 0 1 0 2509 CDBP02508 NADH-cytochrome b5 reductase-like Q6IPT4 NB5R5_HUMAN true false Enzyme Homo_sapiens CYB5RL 314 35891.57 5.152 Involved in oxidoreductase activity NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction (By similarity). 134133308 CYB5RL 1 1p32.3 CYB5RL HGNC:32220 true hsa:606495 NP_001026842.2:NM_001031672.2 FAD 2020-06-12T23:07:05Z 2020-07-28T02:27:55Z 0 0 0 2510 CDBP02509 Probable saccharopine dehydrogenase Q8NBX0 SCPDH_HUMAN true false Enzyme Homo_sapiens SCCPDH 429 47151.0 9.53 Involved in catalytic activity N(6)-(L-1,3-dicarboxypropyl)-L-lysine + NAD(+) + H(2)O = L-glutamate + 2-aminoadipate 6-semialdehyde + NADH ["None"] ["None"] NM_016002.2 55770836 SCCPDH Chromosome:1 1q44 SCCPDH HGNC:24275 true 2020-06-12T23:07:05Z 2020-07-28T02:27:55Z 0 0 0 2511 CDBP02510 Mitochondrial 10-formyltetrahydrofolate dehydrogenase Q3SY69 AL1L2_HUMAN true true Enzyme Homo_sapiens ALDH1L2 923 101744.98 6.524 Involved in formyltetrahydrofolate dehydrogenase activity NM_001034173.3 238814322 ALDH1L2 12 12q23.3 ALDH1L2 HGNC:26777 true hsa:160428 NP_001029345.2:NM_001034173.3 Highly expressed in pancreas, heart, brain and skeletal muscle. 2020-06-12T23:07:05Z 2020-07-28T02:27:55Z 0 0 0 2512 CDBP02511 Fatty acyl-CoA reductase 1 Q8WVX9 FACR1_HUMAN true false Enzyme Homo_sapiens FAR1 515 59356.25 9.179 Involved in catalytic activity Catalyzes the reduction of saturated fatty acyl-CoA with chain length C16 or C18 to fatty alcohols. AY358784 37182687 FAR1 11 11p15.2 FAR1 HGNC:26222 true hsa:84188 NP_115604.1:NM_032228.5 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2513 CDBP02512 Fatty acyl-CoA reductase 2 Q96K12 FACR2_HUMAN true false Enzyme Homo_sapiens FAR2 515 59437.92 9.382 Involved in catalytic activity Catalyzes the reduction of fatty acyl-CoA to fatty alcohols. The preferred substrates are C16, C18, C18:1 and C18:2 but low activity can be observed with C10-C14 substrates. AK001324 7022510 FAR2 12 12p11.22 FAR2 HGNC:25531 true hsa:55711 NP_001258712.1:NM_001271783.1;NP_060569.3:NM_018099.4 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2514 CDBP02513 Cytochrome P450 4A22 Q5TCH4 CP4AM_HUMAN false false Metal Binding Homo_sapiens CYP4A22 519 59245.28 9.063 Involved in monooxygenase activity Catalyzes the omega- and (omega-1)-hydroxylation of various fatty acids such as laurate and palmitate. Shows no activity towards arachidonic acid and prostaglandin A1. Lacks functional activity in the kidney and does not contribute to renal 20-hydroxyeicosatetraenoic acid (20-HETE) biosynthesis. AF208532 8571055 CYP4A22 1 1p33 CYP4A22 HGNC:20575 true hsa:284541 NP_001010969.2:NM_001010969.2 2020-06-12T23:07:05Z 2020-07-28T02:31:58Z 0 1 0 2515 CDBP02514 Stearoyl-CoA desaturase 5 Q86SK9 SCD5_HUMAN true false Enzyme Homo_sapiens SCD5 330 37610.005 9.618 Involved in stearoyl-CoA 9-desaturase activity Fatty acid delta-9-desaturase that introduces a double bond in fatty acyl-coenzyme A at the delta-9 position. NM_001037582.2 148596961 SCD5 4 4q21.22 SCD5 HGNC:21088 true hsa:79966 NP_001032671.2:NM_001037582.2;NP_079182.2:NM_024906.2 Detected in fetal brain, and at lower levels in fetal kidney. Detected in adult brain and pancreas, and at lower levels in kidney and lung. Iron 2020-06-12T23:07:05Z 2020-07-28T02:27:55Z 0 1 0 2516 CDBP02515 Sedoheptulokinase Q9UHJ6 SHPK_HUMAN true false Enzyme Homo_sapiens SHPK 478 51504.425 6.836 Involved in phosphotransferase activity, alcohol group as acceptor Acts as a modulator of macrophage activation through control of glucose metabolism (By similarity). NM_013276.2 74315356 SHPK 17 17p13 SHPK HGNC:1492 true hsa:23729 NP_037408.2:NM_013276.2 Strongly expressed in liver, kidney and pancreas. Expressed at lower levels in placenta and heart. Very weakly expressed in lung and brain. 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2517 CDBP02516 Aldose 1-epimerase Q96C23 GALM_HUMAN true false Enzyme Homo_sapiens GALM 342 37765.365 6.66 Involved in isomerase activity Mutarotase converts alpha-aldose to the beta-anomer. It is active on D-glucose, L-arabinose, D-xylose, D-galactose, maltose and lactose (By similarity). 1SNZ;1SO0 AY064382 20530222 GALM 2 2p22.1 GALM HGNC:24063 true hsa:130589 HS07125-MONOMER NP_620156.1:NM_138801.2 Monomer 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2518 CDBP02517 Acyl-CoA wax alcohol acyltransferase 1 Q58HT5 AWAT1_HUMAN true false Enzyme Homo_sapiens AWAT1 328 37758.815 8.84 Involved in transferase activity, transferring acyl groups other than amino-acyl groups Acyltransferase that predominantly esterify long chain (wax) alcohols with acyl-CoA-derived fatty acids to produce wax esters. Wax esters are enriched in sebum, suggesting that it plays a central role in lipid metabolism in skin. Has a preference for arachidyl alcohol as well as decyl alcohol, demonstrating its relatively poor activity using saturated long chain alcohols (C16, C18, and C20). AL357752 123227401 AWAT1 X Xq13.1 AWAT1 HGNC:23252 true hsa:158833 NP_001013597.1:NM_001013579.2 Predominantly expressed in skin, where it is limited to the sebaceous gland. Expressed in more mature, centrally located cells just before their rupture and sebum release. Also expressed in all tissues except spleen. Expressed at higher level in thymus, prostate and testis. 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2519 CDBP02518 Acyl-CoA wax alcohol acyltransferase 2 Q6E213 AWAT2_HUMAN true false Enzyme Homo_sapiens AWAT2 333 38093.25 9.343 Involved in transferase activity, transferring acyl groups other than amino-acyl groups Acyltransferase that predominantly esterify long chain (wax) alcohols with acyl-CoA-derived fatty acids to produce wax esters. Wax esters are enriched in sebum, suggesting that it plays a central role in lipid metabolism in skin. Has no activity using decyl alcohol and significantly prefers the C16 and C18 alcohols. May also have 2-acylglycerol O-acyltransferase (MGAT) and acyl-CoA:retinol acyltransferase (ARAT) activities, to catalyze the synthesis of diacylglycerols and retinyl esters; however this activity is unclear in vivo. AY605053 49854214 AWAT2 X Xq13.1 AWAT2 HGNC:23251 true hsa:158835 NP_001002254.1:NM_001002254.1 Abundant in tissues rich in sebaceous glands such as the preputial gland and eyelid. Highly expressed in skin, where it is primarily restricted to undifferentiated peripheral sebocytes. Also expressed at lower level in other tissues except pancreas. 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2520 CDBP02519 Diacylglycerol O-acyltransferase 2-like protein 6 Q6ZPD8 DG2L6_HUMAN true false Enzyme Homo_sapiens DGAT2L6 337 38592.9 10.34 Involved in transferase activity, transferring acyl groups other than amino-acyl groups Probable acyltransferase uses fatty acyl-CoA as substrate. Has no wax synthase activity to produce wax esters ["None"] ["22-42", "102-122"] AK129500 34526048 DGAT2L6 DGAT2L6 HGNC:23250 true 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2521 CDBP02520 Putative diacylglycerol O-acyltransferase 2-like protein 7 Q6IED9 DG2L7_HUMAN true false Enzyme Homo_sapiens DGAT2L7 249 27571.0 9.99 Involved in transferase activity, transferring acyl groups other than amino-acyl groups Probable acyltransferase uses fatty acyl-CoA as substrate ["1-17"] ["None"] DGAT2L7 Chromosome:7 7q22.1 true 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2522 CDBP02521 Sn1-specific diacylglycerol lipase alpha Q9Y4D2 DGLA_HUMAN true false Enzyme Homo_sapiens DAGLA 1042 114950.7 6.31 Involved in triglyceride lipase activity Catalyzes the hydrolysis of diacylglycerol (DAG) to 2- arachidonoyl-glycerol (2-AG), the most abundant endocannabinoid in tissues. Required for axonal growth during development and for retrograde synaptic signaling at mature synapses ["None"] ["23-43", "61-81", "102-122", "137-157"] NM_006133.1 27262632 DAGLA Chromosome:1 11q12.2 DAGLA HGNC:1165 true 2020-06-12T23:07:05Z 2020-07-28T02:27:55Z 0 0 0 2523 CDBP02522 Sn1-specific diacylglycerol lipase beta Q8NCG7 DGLB_HUMAN true false Enzyme Homo_sapiens DAGLB 672 73731.3 6.54 Involved in triglyceride lipase activity Catalyzes the hydrolysis of diacylglycerol (DAG) to 2- arachidonoyl-glycerol (2-AG), the most abundant endocannabinoid in tissues. Required for axonal growth during development and for retrograde synaptic signaling at mature synapses ["None"] ["18-38", "59-79", "103-123", "133-153"] AF450090 17864023 DAGLB Chromosome:7 7p22.1 DAGLB HGNC:28923 true 2020-06-12T23:07:05Z 2020-07-28T02:27:55Z 0 0 0 2524 CDBP02523 2-acylglycerol O-acyltransferase 3 Q86VF5 MOGT3_HUMAN true false Enzyme Homo_sapiens MOGAT3 341 38729.84 8.587 Involved in transferase activity, transferring acyl groups other than amino-acyl groups Catalyzes the formation of diacylglycerol from 2-monoacylglycerol and fatty acyl-CoA. Also able to catalyze the terminal step in triacylglycerol synthesis by using diacylglycerol and fatty acyl-CoA as substrates. Has a preference toward palmitoyl-CoA and oleoyl-CoA. May be involved in absorption of dietary fat in the small intestine by catalyzing the resynthesis of triacylglycerol in enterocytes. AY229854 29124967 MOGAT3 7 7q22.1 MOGAT3 HGNC:23249 true hsa:346606 NP_835470.1:NM_178176.2 Selectively expressed in the digestive system. Highly expressed in the ileum, and at lower level in jejunum, duodenum, colon, cecum and the rectum. Not expressed in the stomach and the esophagus and trachea. Expressed at very low level in liver. 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2525 CDBP02524 Diacylglycerol kinase kappa Q5KSL6 DGKK_HUMAN true false Enzyme Homo_sapiens DGKK 1271 141827.5 5.23 Involved in diacylglycerol kinase activity Phosphorylates diacylglycerol (DAG) to generate phosphatidic acid (PA) ["None"] ["None"] AB183864 57753888 DGKK DGKK HGNC:32395 true 2020-06-12T23:07:05Z 2020-07-28T02:27:55Z 1 0 0 2526 CDBP02525 Serine/threonine-protein kinase D2 Q9BZL6 KPCD2_HUMAN true false Enzyme Homo_sapiens PRKD2 878 96749.4 6.84 Involved in intracellular signaling pathway Converts transient diacylglycerol (DAG) signals into prolonged physiological effects, downstream of PKC. Involved in resistance to oxidative stress ["None"] ["None"] NM_001079880.1 120659782 PRKD2 Chromosome:1 19q13.3 PRKD2 HGNC:17293 true 2020-06-12T23:07:05Z 2020-07-28T02:27:55Z 0 0 0 2527 CDBP02526 Lysophospholipid acyltransferase 5 Q6P1A2 MBOA5_HUMAN true false Enzyme Homo_sapiens LPCAT3 487 56034.48 8.692 Involved in 1-acylglycerophosphocholine O-acyltransfera Acyltransferase which mediates the conversion of lysophosphatidylcholine (1-acyl-sn-glycero-3-phosphocholine or LPC) into phosphatidylcholine (1,2-diacyl-sn-glycero-3-phosphocholine or PC) (LPCAT activity). Catalyzes also the conversion of lysophosphatidylserine (1-acyl-2-hydroxy-sn-glycero-3-phospho-L-serine or LPS) into phosphatidylserine (1,2-diacyl-sn-glycero-3-phospho-L-serine or PS) (LPSAT activity). Has also weak lysophosphatidylethanolamine acyltransferase activity (LPEAT activity). Favors polyunsaturated fatty acyl-CoAs as acyl donors compared to saturated fatty acyl-CoAs. Seems to be the major enzyme contributing to LPCAT activity in the liver. Lysophospholipid acyltransferases (LPLATs) catalyze the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle. NM_005768.5 42542394 LPCAT3 12 12p13 LPCAT3 HGNC:30244 true hsa:10162 NP_005759.4:NM_005768.5 Highly expressed in liver, pancreas and adipose tissue. Very low expression in skeletal muscle and heart. Detected in neutrophils. 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2528 CDBP02527 Putative inactive group IIC secretory phospholipase A2 Q5R387 PA2GC_HUMAN true false Enzyme Homo_sapiens PLA2G2C 149 16844.2 8.6 Involved in phospholipase A2 activity Inactive phospholipase (Probable) ["1-18"] ["None"] PLA2G2C Chromosome:1 1p36.12 PLA2G2C HGNC:9032 true 2020-06-12T23:07:05Z 2020-07-28T02:27:55Z 0 1 0 2529 CDBP02528 Lysophosphatidylcholine acyltransferase 1 Q8NF37 PCAT1_HUMAN true false Enzyme Homo_sapiens LPCAT1 534 59150.675 6.021 Involved in acyltransferase activity Possesses both acyltransferase and acetyltransferase activities. Activity is calcium-independent. Mediates the conversion of 1-acyl-sn-glycero-3-phosphocholine (LPC) into phosphatidylcholine (PC). Displays a clear preference for saturated fatty acyl-CoAs, and 1-myristoyl or 1-palmitoyl LPC as acyl donors and acceptors, respectively. May synthesize phosphatidylcholine in pulmonary surfactant, thereby playing a pivotal role in respiratory physiology. AB244719 100811832 LPCAT1 5 5p15.33 LPCAT1 HGNC:25718 true hsa:79888 NP_079106.3:NM_024830.3 2020-06-12T23:07:05Z 2020-07-28T02:27:56Z 0 1 0 2530 CDBP02529 Lysophosphatidylcholine acyltransferase 2 Q7L5N7 PCAT2_HUMAN true false Enzyme Homo_sapiens LPCAT2 544 60207.295 6.551 Involved in acyltransferase activity Possesses both acyltransferase and acetyltransferase activities. Activity is calcium-dependent. Involved in platelet-activating factor (PAF) biosynthesis by catalyzing the conversion of the PAF precursor, 1-O-alkyl-sn-glycero-3-phosphocholine (lyso-PAF) into 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine (PAF). Also converts lyso-PAF to 1-alkyl-phosphatidylcholine (PC), a major component of cell membranes and a PAF precursor. Under resting conditions, acyltransferase activity is preferred. Upon acute inflammatory stimulus, acetyltransferase activity is enhanced and PAF synthesis increases (By similarity). AB244718 126364244 LPCAT2 16 16q12.2 LPCAT2 HGNC:26032 true hsa:54947 NP_060309.2:NM_017839.4 2020-06-12T23:07:05Z 2020-07-28T02:27:56Z 0 1 0 2531 CDBP02530 Phospholipase D3 Q8IV08 PLD3_HUMAN true false Enzyme Homo_sapiens PLD3 490 54704.865 6.472 Involved in catalytic activity NM_001031696.2 72534684 PLD3 19 19q13.2 PLD3 HGNC:17158 true hsa:23646 NP_001026866.1:NM_001031696.2;NP_036400.2:NM_012268.2 Widely expressed. Expressed at higher level in brain. Expressed at low level in corpus callosum, suggesting that it is highly expressed in neurons. 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2532 CDBP02531 Phospholipase D4 Q96BZ4 PLD4_HUMAN true false Enzyme Homo_sapiens PLD4 506 55626.055 8.348 Involved in catalytic activity NM_138790.2 94681038 PLD4 14 14q32.33 PLD4 HGNC:23792 true hsa:122618 NP_620145.2:NM_138790.2 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2533 CDBP02532 Phosphatidylcholine transfer protein Q9UKL6 PPCT_HUMAN false false Enzyme Homo_sapiens PCTP 214 24843.1 5.44 Involved in phosphatidylcholine binding Catalyzes the transfer of phosphatidylcholine between membranes. Binds a single lipid molecule ["None"] ["None"] 1LN1 NM_021213.3 156151415 PCTP Chromosome:1 17q21-q24 PCTP HGNC:8752 true 2020-06-12T23:07:05Z 2020-07-28T02:33:49Z 0 0 0 2534 CDBP02533 Phospholipid scramblase 2 Q9NRY7 PLS2_HUMAN true false Enzyme Homo_sapiens PLSCR2 224 25522.5 5.34 Involved in calcium ion binding May mediate accelerated ATP-independent bidirectional transbilayer migration of phospholipids upon binding calcium ions that results in a loss of phospholipid asymmetry in the plasma membrane. May play a central role in the initiation of fibrin clot formation, in the activation of mast cells and in the recognition of apoptotic and injured cells by the reticuloendothelial system ["None"] ["204-220"] AF159441 9651165 PLSCR2 Chromosome:3 3q24 PLSCR2 HGNC:16494 true 2020-06-12T23:07:05Z 2020-07-28T02:27:56Z 0 0 0 2535 CDBP02534 Phospholipid scramblase 3 Q9NRY6 PLS3_HUMAN true false Enzyme Homo_sapiens PLSCR3 295 31648.1 6.63 Involved in calcium ion binding May mediate accelerated ATP-independent bidirectional transbilayer migration of phospholipids upon binding calcium ions that results in a loss of phospholipid asymmetry in the plasma membrane. May play a central role in the initiation of fibrin clot formation, in the activation of mast cells and in the recognition of apoptotic and injured cells by the reticuloendothelial system ["None"] ["266-282"] NM_020360.2 31543417 PLSCR3 Chromosome:1 17p13.1 PLSCR3 HGNC:16495 true 2020-06-12T23:07:05Z 2020-07-28T02:27:56Z 0 0 0 2536 CDBP02535 Phospholipid scramblase 4 Q9NRQ2 PLS4_HUMAN true false Enzyme Homo_sapiens PLSCR4 329 37005.2 5.62 Involved in calcium ion binding May mediate accelerated ATP-independent bidirectional transbilayer migration of phospholipids upon binding calcium ions that results in a loss of phospholipid asymmetry in the plasma membrane. May play a central role in the initiation of fibrin clot formation, in the activation of mast cells and in the recognition of apoptotic and injured cells by the reticuloendothelial system ["None"] ["304-320"] AF199023 9622872 PLSCR4 Chromosome:3 3q24 PLSCR4 HGNC:16497 true 2020-06-12T23:07:05Z 2020-07-28T02:27:56Z 0 0 0 2537 CDBP02536 Phospholipid scramblase family member 5 A0PG75 PLS5_HUMAN true false Enzyme Homo_sapiens PLSCR5 271 30026.2 4.9 ["None"] ["None"] NM_001085420.1 146229354 PLSCR5 Chromosome:3 3q24 PLSCR5 HGNC:19952 true 2020-06-12T23:07:05Z 2020-07-28T02:27:56Z 0 0 0 2538 CDBP02537 Probable phospholipid-transporting ATPase VB O94823 AT10B_HUMAN true true Enzyme Homo_sapiens ATP10B 1461 165388.9 6.87 Involved in ATP binding ATP + H(2)O + phospholipid(In) = ADP + phosphate + phospholipid(Out) ["None"] ["83-104", "111-132", "317-338", "369-390", "1112-1132", "1145-1164", "1195-1216", "1224-1246", "1253-1273", "1292-1316"] NM_025153.2 149944474 ATP10B Chromosome:5 5q34 ATP10B HGNC:13543 true 2020-06-12T23:07:05Z 2020-07-28T02:27:56Z 0 1 0 2539 CDBP02538 Probable phospholipid-transporting ATPase ID P98198 AT8B2_HUMAN true true Enzyme Homo_sapiens ATP8B2 1209 137439.1 6.99 Involved in ATP binding ATP + H(2)O + phospholipid(In) = ADP + phosphate + phospholipid(Out) ["None"] ["65-86", "93-112", "296-317", "347-368", "890-910", "923-942", "973-994", "1009-1031", "1038-1058", "1079-1103"] BC069264 40316837 ATP8B2 Chromosome:1 1q21.3 ATP8B2 HGNC:13534 true 2020-06-12T23:07:05Z 2020-07-28T02:27:56Z 0 1 0 2540 CDBP02539 60 kDa lysophospholipase Q86U10 LPP60_HUMAN true false Enzyme Homo_sapiens ASPG 567 60882.4 5.688 Involved in asparaginase activity Exhibits lysophospholipase, transacylase, PAF acetylhydrolase and asparaginase activities. NM_001080464 122937331 ASPG 14 14q32.33 ASPG HGNC:20123 true hsa:374569 NP_001073933.2:NM_001080464.2 Monomer 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2541 CDBP02540 Phospholipase B1, membrane-associated Q6P1J6 PLB1_HUMAN true false Enzyme Homo_sapiens PLB1 1458 161711.9 5.897 Involved in hydrolase activity Membrane-associated phospholipase. Exhibits a calcium-independent broad substrate specificity including phospholipase A2/lysophospholipase activity. Preferential hydrolysis at the sn-2 position of diacylphospholipids and diacyglycerol, whereas it shows no positional specificity toward triacylglycerol. Exhibits also esterase activity toward p-nitrophenyl. May act on the brush border membrane to facilitate the absorption of digested lipids (By similarity). NM_153021.4 283436112 PLB1 2 2p23.2 PLB1 HGNC:30041 true hsa:151056 NP_001164056.1:NM_001170585.1;NP_694566.4:NM_153021.4 Expressed in the epidermis (at protein level). 2020-06-12T23:07:05Z 2020-07-28T02:27:56Z 0 0 0 2542 CDBP02541 Abhydrolase domain-containing protein 4 Q8TB40 ABHD4_HUMAN true false Enzyme Homo_sapiens ABHD4 342 38794.1 7.69 Involved in hydrolase activity Lysophospholipase selective for N-acyl phosphatidylethanolamine (NAPE). Contributes to the biosynthesis of N-acyl ethanolamines, including the endocannabinoid anandamide by hydrolyzing the sn-1 and sn-2 acyl chains from N-acyl phosphatidylethanolamine (NAPE) generating glycerophospho-N-acyl ethanolamine (GP-NAE), an intermediate for N-acyl ethanolamine biosynthesis. Hydrolyzes substrates bearing saturated, monounsaturated, polyunsaturated N-acyl chains. Shows no significant activity towards other lysophospholipids, including lysophosphatidylcholine, lysophosphatidylethanolamine and lysophosphatidylserine ["None"] ["None"] AK022878 10434528 ABHD4 Chromosome:1 14q11.2 ABHD4 HGNC:20154 true 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2543 CDBP02542 N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D Q6IQ20 NAPEP_HUMAN true false Enzyme Homo_sapiens NAPEPLD 393 45595.15 6.059 Involved in metal ion binding Hydrolyzes N-acyl-phosphatidylethanolamines (NAPEs) to produce N-acylethanolamines (NAEs) and phosphatidic acid. Responsible for the generation of anandamide (N-arachidonoylethanolamine), the ligand of cannabinoid and vanilloid receptors (By similarity). AB112352 38524476 NAPEPLD 7 7q22.1 NAPEPLD HGNC:21683 true hsa:222236 ENSG00000161048-MONOMER NP_001116310.1:NM_001122838.1;NP_945341.3:NM_198990.4 or 2 zinc ions Monomer 2020-06-12T23:07:05Z 2020-07-28T02:27:56Z 0 1 0 2544 CDBP02543 Phosphatidylethanolamine-binding protein 1 P30086 PEBP1_HUMAN true false Enzyme Homo_sapiens PEBP1 187 21056.6 7.65 Involved in ATP binding HCNP may be involved in the function of the presynaptic cholinergic neurons of the central nervous system. HCNP increases the production of choline acetyltransferase but not acetylcholinesterase. Seems to be mediated by a specific receptor ["None"] ["None"] 1BEH AK311927 189065145 PEBP1 Chromosome:1 12q24.23 PEBP1 HGNC:8630 true 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2545 CDBP02544 Phosphatidylethanolamine-binding protein 4 Q96S96 PEBP4_HUMAN true false Enzyme Homo_sapiens PEBP4 227 25733.2 6.51 Seems to promote cellular resistance to TNF-induced apoptosis by inhibiting activation of the Raf-1/MEK/ERK pathway, JNK and phosphatidylethanolamine externalization ["1-22"] ["None"] AY037148 14585855 PEBP4 Chromosome:8 8p21.3 PEBP4 HGNC:28319 true 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2546 CDBP02545 Ethanolaminephosphotransferase 1 Q9C0D9 EPT1_HUMAN true false Enzyme Homo_sapiens EPT1 397 45228.42 6.599 Involved in phosphotransferase activity, for other substituted phosphate groups Catalyzes phosphatidylethanolamine biosynthesis from CDP-ethanolamine. It thereby plays a central role in the formation and maintenance of vesicular membranes. Involved in the formation of phosphatidylethanolamine via 'Kennedy' pathway. BK001426 52078126 EPT1 2 2p23.3 EPT1 HGNC:29361 true hsa:85465 NP_277040.1:NM_033505.2 Widely expressed. Abundant in brain, placenta, liver and pancreas, followed by heart, skeletal muscle, lung and kidney. In brain it is strongly expressed in cerebellum, followed by the occipital pole and the frontal lobe. Magnesium or manganese 2020-06-12T23:07:05Z 2020-07-28T02:27:56Z 0 1 0 2547 CDBP02546 Phospholipase A1 member A Q53H76 PLA1A_HUMAN true false Enzyme Homo_sapiens PLA1A 456 49715.0 7.4 Involved in catalytic activity Hydrolyzes the ester bond at the sn-1 position of glycerophospholipids and produces 2-acyl lysophospholipids. Hydrolyzes phosphatidylserine (PS) in the form of liposomes and 1- acyl-2 lysophosphatidylserine (lyso-PS), but not triolein, phosphatidylcholine (PC), phosphatidylethanolamine (PE), phosphatidic acid (PA) or phosphatidylinositol (PI). Isoform 2 hydrolyzes lyso-PS but not PS. Hydrolysis of lyso-PS in peritoneal mast cells activated by receptors for IgE leads to stimulate histamine production ["1-25"] ["None"] AF035268 4090960 PLA1A Chromosome:3 3q13.13-q13.2 PLA1A HGNC:17661 true 2020-06-12T23:07:05Z 2020-06-12T23:07:05Z 0 0 0 2548 CDBP02547 Serum deprivation-response protein O95810 SDPR_HUMAN false false Enzyme Homo_sapiens SDPR 425 47172.8 4.88 Involved in phosphatidylserine binding May play a role in targeting PRKCA to caveolae ["None"] ["None"] AF085481 4336416 SDPR Chromosome:2 2q32-q33 SDPR HGNC:10690 true 2020-06-12T23:07:05Z 2020-07-28T02:33:49Z 0 0 0 2549 CDBP02548 Lysocardiolipin acyltransferase 1 Q6UWP7 LCLT1_HUMAN true false Enzyme Homo_sapiens LCLAT1 414 44560.815 8.584 Involved in acyltransferase activity Acyl-CoA:lysocardiolipin acyltransferase. Possesses both lysophosphatidylinositol acyltransferase (LPIAT) and lysophosphatidylglycerol acyltransferase (LPGAT) activities. Recognizes both monolysocardiolipin and dilysocardiolipin as substrates with a preference for linoleoyl-CoA and oleoyl-CoA as acyl donors. Acts as a remodeling enzyme for cardiolipin, a major membrane polyglycerophospholipid. Converts lysophosphatidic acid (LPA) into phosphatidic acid (PA) with a relatively low activity. Required for establishment of the hematopoietic and endothelial lineages. NM_182551.3 42558246 LCLAT1 2 2p23.1 LCLAT1 HGNC:26756 true hsa:253558 NP_001002257.1:NM_001002257.1;NP_872357.2:NM_182551.3 Expressed at higher level in heart, kidney and pancreas than in brain, spleen, liver, lung, small intestine and placenta. 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2550 CDBP02549 Lysophosphatidic acid receptor 3 Q9UBY5 LPAR3_HUMAN true false Enzyme Homo_sapiens LPAR3 353 40128.1 9.75 Involved in G-protein coupled receptor protein signaling pathway Receptor for lysophosphatidic acid (LPA), a mediator of diverse cellular activities. May play a role in the development of ovarian cancer. Seems to be coupled to the G(i)/G(o) and G(q) families of heteromeric G proteins ["None"] ["32-52", "68-88", "102-124", "147-167", "187-207", "241-261", "277-297"] AF127138 5922725 LPAR3 Chromosome:1 1p22.3 LPAR3 HGNC:14298 true 2020-06-12T23:07:06Z 2020-07-28T02:27:57Z 1 0 0 2551 CDBP02550 Lysophosphatidic acid receptor 4 Q99677 LPAR4_HUMAN false false Receptor Homo_sapiens LPAR4 370 41894.7 9.28 Involved in G-protein coupled receptor protein signaling pathway Receptor for lysophosphatidic acid (LPA), a mediator of diverse cellular activities. Transduces a signal by increasing the intracellular calcium ions and by stimulating adenylyl cyclase activity. The rank order of potency for agonists of this receptor is 1-oleoyl- > 1-stearoyl- > 1-palmitoyl- > 1-myristoyl- > 1- alkyl- > 1-alkenyl-LPA ["None"] ["44-64", "74-94", "113-133", "156-176", "204-224", "255-275", "295-315"] AF005419 2240035 LPAR4 LPAR4 HGNC:4478 true 2020-06-12T23:07:06Z 2020-07-28T02:27:57Z 1 0 0 2552 CDBP02551 Lysophosphatidic acid receptor 5 Q9H1C0 LPAR5_HUMAN true false Enzyme Homo_sapiens LPAR5 372 41346.0 10.44 Involved in G-protein coupled receptor protein signaling pathway Receptor for lysophosphatidic acid (LPA), a mediator of diverse cellular activities ["None"] ["27-47", "56-76", "97-117", "137-157", "188-208", "240-260", "277-297"] AB083600 20152264 LPAR5 Chromosome:1 12p13.31 LPAR5 HGNC:13307 true 2020-06-12T23:07:06Z 2020-07-28T02:27:57Z 1 0 0 2553 CDBP02552 Lysophospholipid acyltransferase LPCAT4 Q643R3 LPCT4_HUMAN true false Enzyme Homo_sapiens LPCAT4 524 57218.6 9.24 Involved in acyltransferase activity Displays acyl-CoA-dependent lysophospholipid acyltransferase activity with a subset of lysophospholipids as substrates; converts lysophosphatidylethanolamine to phosphatidylethanolamine, lysophosphatidylcholine to phosphatidycholine, 1-alkenyl-lysophatidylethanolamine to 1- alkenyl-phosphatidylethanolamine, lysophosphatidylglycerol and alkyl-lysophosphatidylcholine to phosphatidylglycerol and alkyl- phosphatidylcholine, respectively. In contrast, has no lysophosphatidylinositol, glycerol-3-phosphate, diacylglycerol or lysophosphatidic acid acyltransferase activity. Prefers long chain acyl-CoAs (C16, C18) as acyl donors ["None"] ["40-62", "87-107"] NM_153613.2 87116681 LPCAT4 Chromosome:1 15q14 LPCAT4 HGNC:30059 true 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2554 CDBP02553 Glycerol-3-phosphate acyltransferase 3 Q53EU6 GPAT3_HUMAN true false Enzyme Homo_sapiens AGPAT9 434 48704.805 8.864 Involved in acyltransferase activity Esterifies acyl-group from acyl-ACP to the sn-1 position of glycerol-3-phosphate, an essential step in glycerolipid biosynthesis. Overexpression activates the mTOR pathway. NM_032717.3 21362092 AGPAT9 4 4q21.23 AGPAT9 HGNC:28157 true hsa:84803 NP_001243350.1:NM_001256421.1;NP_001243351.1:NM_001256422.1;NP_116106.2:NM_032717.4 Widely expressed. Expressed in liver, kidney, testis, brain, heart, skeletal muscle, thyroid, prostate, thymus and placenta. Also expressed lung and adipose tissue. 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2555 CDBP02554 Lysophosphatidic acid phosphatase type 6 Q9NPH0 PPA6_HUMAN true false Enzyme Homo_sapiens ACP6 428 48853.955 6.469 Involved in acid phosphatase activity Hydrolyzes lysophosphatidic acid to monoacylglycerol. AB030039 7594827 ACP6 1 1q21 ACP6 HGNC:29609 true hsa:51205 NP_057445.3:NM_016361.3;XP_003960281.1:XM_003960232.1;XP_003960282.1:XM_003960233.1 Highly expressed in kidney, heart, small intestine, muscle, liver, prostate, testis, ovary and weakly expressed in thymus and colon. 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2556 CDBP02555 Lysophosphatidic acid receptor 6 P43657 LPAR6_HUMAN false false Receptor Homo_sapiens LPAR6 344 39391.2 9.16 Involved in G-protein coupled receptor protein signaling pathway Binds to oleoyl-L-alpha-lysophosphatidic acid (LPA). Intracellular cAMP is involved in the receptor activation. Important for the maintenance of hair growth and texture ["None"] ["20-46", "56-79", "93-112", "134-154", "182-209", "228-253", "273-292"] AF000546 2232069 LPAR6 Chromosome:1 13q14 LPAR6 HGNC:15520 true 2020-06-12T23:07:06Z 2020-07-28T02:27:57Z 1 0 0 2557 CDBP02556 Lipase member H Q8WWY8 LIPH_HUMAN true false Enzyme Homo_sapiens LIPH 451 50858.9 7.46 Involved in catalytic activity Hydrolyzes specifically phosphatidic acid (PA) to produce lysophosphatidic acid (LPA) ["1-18"] ["None"] NM_139248.2 21245106 LIPH Chromosome:3 3q27 LIPH HGNC:18483 true 2020-06-12T23:07:06Z 2020-07-28T02:27:57Z 0 0 0 2558 CDBP02557 Lipase member I Q6XZB0 LIPI_HUMAN true false Enzyme Homo_sapiens LIPI 460 52991.0 9.28 Involved in catalytic activity Hydrolyzes specifically phosphatidic acid (PA) to produce lysophosphatidic acid (LPA) ["1-15"] ["None"] 39752679 LIPI Chromosome:2 21q11.2 LIPI HGNC:18821 true 2020-06-12T23:07:06Z 2020-07-28T02:27:57Z 0 0 0 2559 CDBP02558 Lipid phosphate phosphatase-related protein type 4 Q7Z2D5 LPPR4_HUMAN true false Enzyme Homo_sapiens LPPR4 763 76553.42 8.755 Involved in catalytic activity Hydrolyzes lysophosphatidic acid (LPA). Facilitates axonal outgrowth during development and regenerative sprouting. In the outgrowing axons acts as an ecto-enzyme and attenuates phospholipid-induced axon collapse in neurons and facilitates outgrowth in the hippocampus. NM_014839.4 33636722 LPPR4 1 1p21.2 true hsa:9890 NP_001159724.1:NM_001166252.1;NP_055654.2:NM_014839.4 Specifically expressed in neurons. 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2560 CDBP02559 Lipid phosphate phosphatase-related protein type 5 Q32ZL2 LPPR5_HUMAN true false Enzyme Homo_sapiens LPPR5 321 35427.1 7.04 Involved in catalytic activity ["None"] ["10-30", "62-82", "122-142", "196-213", "225-245", "252-272"] NM_001037317.1 82659094 LPPR5 Chromosome:1 1p21.3 true 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2561 CDBP02560 Presqualene diphosphate phosphatase Q8IY26 PPAC2_HUMAN true false Enzyme Homo_sapiens PPAPDC2 295 32193.2 10.42 Involved in catalytic activity Phosphatase that dephosphorylates presqualene diphosphate (PSDP) into presqualene monophosphate (PSMP), suggesting that it may be indirectly involved in innate immunity. PSDP is a bioactive lipid that rapidly remodels to presqualene monophosphate PSMP upon cell activation. Displays diphosphate phosphatase activity with a substrate preference for PSDP > FDP > phosphatidic acid ["None"] ["133-153", "165-185", "229-249", "261-281"] NM_203453.2 66773040 PPAPDC2 Chromosome:9 9p24.1 PPAPDC2 HGNC:23682 true 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2562 CDBP02561 Probable lipid phosphate phosphatase PPAPDC3 Q8NBV4 PPAC3_HUMAN true false Enzyme Homo_sapiens PPAPDC3 271 29447.3 10.5 Involved in catalytic activity Plays a role as negative regulator of myoblast differentiation, in part through effects on MTOR signaling. Has no detectable enzymatic activity ["None"] ["113-133", "142-162", "203-223", "240-260"] AK027568 14042336 PPAPDC3 Chromosome:9 9q34.13 PPAPDC3 HGNC:28174 true 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2563 CDBP02562 Phosphatidate phosphatase PPAPDC1A Q5VZY2 PPC1A_HUMAN true false Enzyme Homo_sapiens PPAPDC1A 271 30394.27 8.179 Involved in catalytic activity Displays magnesium-independent phosphatidate phosphatase activity in vitro. Catalyzes the conversion of phosphatidic acid to diacylglycerol. NM_001030059.1 73611920 PPAPDC1A 10 10q26.12 PPAPDC1A HGNC:23531 true hsa:196051 NP_001025230.1:NM_001030059.1 Expressed mainly to the brain, kidney and testis, and to a lesser extent the bone marrow, thymus, prostate, liver and uterus. 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2564 CDBP02563 Phosphatidate phosphatase PPAPDC1B Q8NEB5 PPC1B_HUMAN true false Enzyme Homo_sapiens PPAPDC1B 223 29484.025 8.504 Involved in catalytic activity Displays magnesium-independent phosphatidate phosphatase activity in vitro. Catalyzes the conversion of phosphatidic acid to diacylglycerol. May be a metastatic suppressor for hepatocellular carcinoma. BC033025 21542541 PPAPDC1B 8 8p11.23 PPAPDC1B HGNC:25026 true hsa:84513 NP_001096029.1:NM_001102559.1;NP_115872.2:NM_032483.3 Ubiquitous. 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2565 CDBP02564 GPI mannosyltransferase 3 Q92521 PIGB_HUMAN true false Enzyme Homo_sapiens PIGB 554 65055.9 9.57 Involved in transferase activity, transferring glycosyl groups Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the third alpha-1,2-mannose to Man2-GlcN-acyl-PI during GPI precursor assembly ["None"] ["63-83", "136-156", "192-212", "224-244", "255-275", "315-335", "340-360", "362-382", "387-407"] AK223330 62898221 PIGB Chromosome:1 15q21-q22 PIGB HGNC:8959 true 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2566 CDBP02565 Phosphatidylinositol-glycan biosynthesis class F protein Q07326 PIGF_HUMAN true false Enzyme Homo_sapiens PIGF 219 24889.3 8.64 Involved in GPI anchor biosynthetic process Involved in GPI-anchor biosynthesis through the transfer of ethanolamine phosphate to the third mannose of GPI ["None"] ["11-31", "42-62", "86-106", "113-133", "155-175", "189-209"] NM_002643.3 4505797 PIGF Chromosome:2 2p21-p16 PIGF HGNC:8962 true 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2567 CDBP02566 GPI ethanolamine phosphate transferase 2 Q5H8A4 PIGG_HUMAN true false Enzyme Homo_sapiens PIGG 983 108171.7 7.15 Involved in catalytic activity Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the GPI second mannose ["None"] ["432-452", "471-491", "506-526", "552-572", "699-719", "721-741", "752-772", "789-809", "812-832", "879-899", "919-939", "955-975"] AB162713 58430451 PIGG Chromosome:4 4p16.3 PIGG HGNC:25985 true 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2568 CDBP02567 GPI ethanolamine phosphate transferase 1 O95427 PIGN_HUMAN true false Enzyme Homo_sapiens PIGN 931 105809.2 8.87 Involved in catalytic activity Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the first alpha-1,4-linked mannose of the glycosylphosphatidylinositol precursor of GPI-anchor ["None"] ["2-24", "443-463", "483-503", "509-529", "544-564", "566-586", "592-612", "619-639", "650-670", "686-706", "724-744", "787-807", "825-845", "859-879", "895-915"] AF109219 4206155 PIGN Chromosome:1 18q21.33 PIGN HGNC:8967 true 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2569 CDBP02568 GPI ethanolamine phosphate transferase 3 Q8TEQ8 PIGO_HUMAN true false Enzyme Homo_sapiens PIGO 1089 118697.6 8.18 Involved in catalytic activity Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the GPI third mannose which links the GPI-anchor to the C-terminus of the proteins by an amide bond ["None"] ["4-24", "457-477", "482-502", "510-530", "541-561", "575-595", "668-688", "701-721", "747-767", "830-850", "857-877", "944-964", "1014-1034", "1048-1068"] NM_032634.2 23397648 PIGO Chromosome:9 9p13.3 PIGO HGNC:23215 true 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2570 CDBP02569 GPI transamidase component PIG-S Q96S52 PIGS_HUMAN true false Enzyme Homo_sapiens PIGS 555 61655.5 6.46 Involved in protein binding Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates ["None"] ["19-39", "521-541"] AB057723 14456613 PIGS Chromosome:1 17p13.2 PIGS HGNC:14937 true 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2571 CDBP02570 GPI transamidase component PIG-T Q969N2 PIGT_HUMAN true false Enzyme Homo_sapiens PIGT 578 65699.0 8.49 Involved in protein binding Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates ["1-21"] ["528-548"] AB057724 14456615 PIGT Chromosome:2 20q12-q13.12 PIGT HGNC:14938 true 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2572 CDBP02571 Phosphatidylinositol glycan anchor biosynthesis class U protein Q9H490 PIGU_HUMAN true false Enzyme Homo_sapiens PIGU 435 50051.2 7.82 Involved in GPI anchor biosynthetic process Component of the GPI transamidase complex. May be involved in the recognition of either the GPI attachment signal or the lipid portion of GPI ["None"] ["66-86", "166-186", "188-208", "237-257", "259-279", "286-306", "313-333", "355-375", "386-406"] AB086842 27372217 PIGU Chromosome:2 20q11.22 PIGU HGNC:15791 true 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2573 CDBP02572 GPI mannosyltransferase 2 Q9NUD9 PIGV_HUMAN true false Enzyme Homo_sapiens PIGV 493 55712.1 8.03 Involved in transferase activity, transferring hexosyl groups Alpha-1,6-mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the second mannose to the glycosylphosphatidylinositol during GPI precursor assembly ["None"] ["14-34", "78-98", "114-134", "137-157", "162-182", "193-213", "235-255", "328-348", "379-399", "470-490"] AK000484 7020604 PIGV Chromosome:1 1p36.11 PIGV HGNC:26031 true 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2574 CDBP02573 Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y Q3MUY2 PIGY_HUMAN true false Enzyme Homo_sapiens PIGY 71 8057.5 7.41 Involved in GPI anchor biosynthetic process Component of the GPI-GlcNAc transferase (GPI-GnT) complex in the endoplasmic reticulum, a complex that catalyzes transfer of GlcNAc from UDP-GlcNAc to an acceptor phosphatidylinositol, the first step in the production of GPI- anchors for cell surface proteins. May act by regulating the catalytic subunit PIGA ["None"] ["4-26", "45-65"] AB206972 75674192 PIGY Chromosome:4 4q22.1 PIGY HGNC:28213 true 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2575 CDBP02574 Cytoplasmic phosphatidylinositol transfer protein 1 Q9UKF7 PITC1_HUMAN false false Enzyme Homo_sapiens PITPNC1 332 38373.2 6.36 Involved in transport Phosphatidylinositol transfer proteins mediate the monomeric transport of lipids by shielding a lipid from the aqueous environment and binding the lipid in a hydrophobic cavity. Able to transfer phosphatidylinositol in vitro ["None"] ["None"] AF171102 6272656 PITPNC1 Chromosome:1 17q24.2 PITPNC1 HGNC:21045 true 2020-06-12T23:07:06Z 2020-07-28T02:33:50Z 0 0 0 2576 CDBP02575 Membrane-associated phosphatidylinositol transfer protein 1 O00562 PITM1_HUMAN false false Metal Binding Homo_sapiens PITPNM1 1244 134846.3 5.81 Involved in metal ion binding Regulates RHOA activity, and plays a role in cytoskeleton remodeling. Necessary for normal completion of cytokinesis. Plays a role in maintaining normal diacylglycerol levels in the Golgi apparatus. Binds phosphatidyl inositol phosphates (in vitro). May catalyze the transfer of phosphatidylinositol and phosphatidylcholine between membranes. Necessary for maintaining the normal structure of the endoplasmic reticulum and the Golgi apparatus. Required for protein export from the endoplasmic reticulum and the Golgi. Binds calcium ions ["None"] ["None"] AF334584 12667436 PITPNM1 Chromosome:1 11q13 PITPNM1 HGNC:9003 true 2020-06-12T23:07:06Z 2020-07-28T02:31:58Z 0 1 0 2577 CDBP02576 Membrane-associated phosphatidylinositol transfer protein 2 Q9BZ72 PITM2_HUMAN false false Metal Binding Homo_sapiens PITPNM2 1349 148931.9 7.17 Involved in metal ion binding Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro). Binds calcium ions ["None"] ["None"] NM_020845.2 24308237 PITPNM2 Chromosome:1 12q24.31 PITPNM2 HGNC:21044 true 2020-06-12T23:07:06Z 2020-07-28T02:31:58Z 0 1 0 2578 CDBP02577 Membrane-associated phosphatidylinositol transfer protein 3 Q9BZ71 PITM3_HUMAN false false Metal Binding Homo_sapiens PITPNM3 974 106780.1 7.14 Involved in metal ion binding Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro). Binds calcium ions ["None"] ["None"] NM_031220.3 190358515 PITPNM3 Chromosome:1 17p13 PITPNM3 HGNC:21043 true 2020-06-12T23:07:06Z 2020-07-28T02:31:58Z 0 1 0 2579 CDBP02578 Pleckstrin homology domain-containing family A member 8 Q96JA3 PKHA8_HUMAN false true Transporter Homo_sapiens PLEKHA8 519 58306.0 4.89 Involved in glycolipid transporter activity Involved in TGN-to-plasma membrane transport and in the formation of post-Golgi constitutive carriers. May play a role in ensuring the coordination of the budding and the fission reactions ["None"] ["None"] NM_001197026.1 308153327 PLEKHA8 Chromosome:7 7p21-p11.2 PLEKHA8 HGNC:30037 true 2020-06-12T23:07:06Z 2020-07-28T02:32:10Z 0 0 0 2580 CDBP02579 PI-PLC X domain-containing protein 1 Q9NUJ7 PLCX1_HUMAN true false Enzyme Homo_sapiens PLCXD1 323 36667.8 6.56 Involved in phosphoric diester hydrolase activity ["None"] ["None"] AK002185 7023908 PLCXD1 PLCXD1 HGNC:23148 true 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2581 CDBP02580 PI-PLC X domain-containing protein 3 Q63HM9 PLCX3_HUMAN true false Enzyme Homo_sapiens PLCXD3 321 36312.5 6.24 Involved in phosphoric diester hydrolase activity ["None"] ["None"] NM_001005473.2 53828920 PLCXD3 Chromosome:5 5p13.1 PLCXD3 HGNC:31822 true 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2582 CDBP02581 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 Q86YW0 PLCZ1_HUMAN true false Enzyme Homo_sapiens PLCZ1 608 70410.725 9.034 Involved in calcium ion binding The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. In vitro, hydrolyzes PtdIns(4,5)P2 in a Ca(2+)-dependent manner. Triggers intracellular Ca(2+) oscillations in oocytes solely during M phase and is involved in inducing oocyte activation and initiating embryonic development up to the blastocyst stage. Is therefore a strong candidate for the egg-activating soluble sperm factor that is transferred from the sperm into the egg cytoplasm following gamete membrane fusion. May exert an inhibitory effect on phospholipase-C-coupled processes that depend on calcium ions and protein kinase C, including CFTR trafficking and function. AF532185 25053795 PLCZ1 12 12p12.3 PLCZ1 HGNC:19218 true hsa:89869 NP_149114.2:NM_033123.3 Expressed specifically in testis. Weakly expressed in pancreatic-duct cells. Up-regulated in pancreatic-duct cells from patients with cystic fibrosis. Calcium Interacts via its C2 domain with PtdIns(3)P and, to a lesser extent, PtdIns(5)P in vitro 2020-06-12T23:07:06Z 2020-07-28T02:27:58Z 0 1 0 2583 CDBP02582 Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein Q8TCU6 PREX1_HUMAN false false Enzyme Homo_sapiens PREX1 1659 186201.7 6.4 Involved in intracellular signaling pathway Functions as a RAC guanine nucleotide exchange factor (GEF), which activates the Rac proteins by exchanging bound GDP for free GTP. Its activity is synergistically activated by phosphatidylinositol-3,4,5-triphosphate and the beta gamma subunits of heterotrimeric G protein. May function downstream of heterotrimeric G proteins in neutrophils ["None"] ["None"] NM_020820.3 34452732 PREX1 Chromosome:2 20q13.13 PREX1 HGNC:32594 true 2020-06-12T23:07:06Z 2020-07-28T02:33:50Z 0 0 0 2584 CDBP02583 Transmembrane protein 55A Q8N4L2 TM55A_HUMAN false false Enzyme Homo_sapiens TMEM55A 257 28080.62 8.679 Involved in hydrolase activity Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 4,5-bisphosphate. Does not hydrolyze phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 3,4-bisphosphate, inositol 3,5-bisphosphate, inositol 3,4-bisphosphate, phosphatidylinositol 5-monophosphate, phosphatidylinositol 4-monophosphate and phosphatidylinositol 3-monophosphate. AK313783 189054014 TMEM55A 8 8q21.3 TMEM55A HGNC:25452 true hsa:55529 HS14553-MONOMER NP_061180.1:NM_018710.2 Ubiquitous. 2020-06-12T23:07:06Z 2020-07-28T02:33:50Z 0 0 0 2585 CDBP02584 Transmembrane protein 55B Q86T03 TM55B_HUMAN false false Enzyme Homo_sapiens TMEM55B 277 30185.125 8.98 Involved in hydrolase activity Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 4,5-bisphosphate. Does not hydrolyze phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 3,4-bisphosphate, inositol 3,5-bisphosphate, inositol 3,4-bisphosphate, phosphatidylinositol 5-monophosphate, phosphatidylinositol 4-monophosphate and phosphatidylinositol 3-monophosphate. AK314021 189054212 TMEM55B 14 14q11.2 TMEM55B HGNC:19299 true hsa:90809 HS15363-MONOMER NP_001094284.1:NM_001100814.1;NP_653169.2:NM_144568.2 Ubiquitous. 2020-06-12T23:07:06Z 2020-07-28T02:33:50Z 0 0 0 2586 CDBP02585 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2 Q6XPS3 TPTE2_HUMAN true true Enzyme Homo_sapiens TPTE2 522 48385.14 8.674 Involved in protein tyrosine/serine/threonine phosphatase activity NM_199254.2 213972591 TPTE2 13 13q12.11 TPTE2 HGNC:17299 true hsa:93492 NP_001135440.1:NM_001141968.1;NP_570141.3:NM_130785.3;NP_954863.2:NM_199254.2 Isoform 3 is expressed in testis, brain and stomach while isoform 4 seems to be testis-specific. 2020-06-12T23:07:06Z 2020-07-28T02:27:58Z 0 0 0 2587 CDBP02586 Patatin-like phospholipase domain-containing protein 2 Q96AD5 PLPL2_HUMAN true false Enzyme Homo_sapiens PNPLA2 504 55315.245 7.084 Involved in metabolic process Catalyzes the initial step in triglyceride hydrolysis in adipocyte and non-adipocyte lipid droplets. Also has acylglycerol transacylase activity. May act coordinately with LIPE/HLS within the lipolytic cascade. Regulates adiposome size and may be involved in the degradation of adiposomes. May play an important role in energy homeostasis. May play a role in the response of the organism to starvation, enhancing hydrolysis of triglycerides and providing free fatty acids to other tissues to be oxidized in situations of energy depletion. NM_020376.3 32698724 PNPLA2 11 11p15.5 PNPLA2 HGNC:30802 true hsa:57104 NP_065109.1:NM_020376.3 Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of the gastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epithelium and, at lower intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina (at protein level). Interacts with ABHD5; this association stimulates PNPLA2 triglyceride hydrolase activity . Interacts with SERPINF1; interacts at one site of interaction. Despite a colocalization in lipid droplets, it probably does not interact with PLIN (By similarity) 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2588 CDBP02587 UDP-glucuronosyltransferase 2A3 Q6UWM9 UD2A3_HUMAN true false Enzyme Homo_sapiens UGT2A3 527 60253.94 7.955 Involved in transferase activity, transferring hexosyl groups UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds (By similarity). NM_024743.3 193211427 UGT2A3 4 4q13.2 UGT2A3 HGNC:28528 true hsa:79799 NP_079019.3:NM_024743.3 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2589 CDBP02588 Glycine N-acyltransferase Q6IB77 GLYAT_HUMAN true false Enzyme Homo_sapiens GLYAT 296 18506.33 8.703 Involved in glycine N-acyltransferase activity Mitochondrial acyltransferase which transfers an acyl group to the N-terminus of glycine and glutamine, although much less efficiently. Can conjugate numerous substrates to form a variety of N-acylglycines, with a preference for benzoyl-CoA over phenylacetyl-CoA as acyl donors. Thereby detoxify xenobiotics, such as benzoic acid or salicylic acid, and endogenous organic acids, such as isovaleric acid. NM_201648.2 111038137 GLYAT 11 11q12.1 GLYAT HGNC:13734 true hsa:10249 NP_005829.3:NM_005838.3;NP_964011.2:NM_201648.2 Predominantly expressed in liver (at protein level) and kidney. Down-regulated in hepatocellular carcinoma and other liver cancers. 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2590 CDBP02589 Glycine N-acyltransferase-like protein 1 Q969I3 GLYL1_HUMAN true false Enzyme Homo_sapiens GLYATL1 302 35100.895 6.867 Involved in glycine N-acyltransferase activity Acyltransferase which transfers an acyl group to the N-terminus of glutamine. Can use phenylacetyl-CoA as an acyl donor. DQ084381 GLYATL1 11 11q12.1 GLYATL1 HGNC:30519 true hsa:92292 NP_001207423.1:NM_001220494.1;NP_001207425.1:NM_001220496.1;NP_542392.2:NM_080661.3 Expressed in liver and kidney and, at lower levels, in pancreas, testis, ovary and stomach. 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2591 CDBP02590 Glycine N-acyltransferase-like protein 2 Q8WU03 GLYL2_HUMAN true false Enzyme Homo_sapiens GLYATL2 294 34277.055 6.681 Involved in glycine N-acyltransferase activity Mitochondrial acyltransferase which transfers the acyl group to the N-terminus of glycine. Conjugates numerous substrates, such as arachidonoyl-CoA and saturated medium and long-chain acyl-CoAs ranging from chain-length C8:0-CoA to C18:0-CoA, to form a variety of N-acylglycines. Shows a preference for monounsaturated fatty acid oleoyl-CoA (C18:1-CoA) as an acyl donor. Does not exhibit any activity toward C22:6-CoA and chenodeoxycholoyl-CoA, nor toward serine or alanine. AF426250 29243559 GLYATL2 11 11q12.1 GLYATL2 HGNC:24178 true hsa:219970 NP_659453.3:NM_145016.3 Expressed at highest levels in salivary gland and trachea. Also detected in thyroid gland, spinal cord, prostate, lung and fetal brain. 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2592 CDBP02591 Glycine N-acyltransferase-like protein 3 Q5SZD4 GLYL3_HUMAN true false Enzyme Homo_sapiens GLYATL3 288 32703.3 9.04 Involved in glycine N-acyltransferase activity Acyltransferase which transfers the acyl group to the N- terminus of glycine ["None"] ["None"] NM_001010904.1 222831633 GLYATL3 Chromosome:6 6p12.3 GLYATL3 HGNC:21349 true 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2593 CDBP02592 Dihydrolipoamide S-acetyltransferase Q86YI5 Q86YI5_HUMAN true false Enzyme Homo_sapiens DLAT 647 68996.0 7.94 Involved in acyltransferase activity ["None"] ["None"] 1FYC AK057299 193787077 DLAT Chromosome:1 11q23.1 DLAT HGNC:2896 true 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2594 CDBP02593 Di-N-acetylchitobiase Q01459 DIAC_HUMAN true false Enzyme Homo_sapiens CTBS 385 43759.4 6.61 Involved in chitinase activity Involved in the degradation of asparagine-linked glycoproteins. Hydrolyze of N-acetyl-beta-D-glucosamine (1-4)N- acetylglucosamine chitobiose core from the reducing end of the bond, it requires prior cleavage by glycosylasparaginase ["1-38"] ["None"] AF085706 3603439 CTBS Chromosome:1 1p22 CTBS HGNC:2496 true 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2595 CDBP02594 N-acylneuraminate-9-phosphatase Q8TBE9 NANP_HUMAN true false Enzyme Homo_sapiens NANP 248 27812.875 6.398 Involved in catalytic activity 2W4M AK055472 193786241 NANP 20 20p11.1 NANP HGNC:16140 true hsa:140838 HS10082-MONOMER NP_689880.1:NM_152667.2 Magnesium 2020-06-12T23:07:06Z 2020-07-28T02:27:59Z 0 0 0 2596 CDBP02595 N-acetylneuraminate lyase Q9BXD5 NPL_HUMAN true false Enzyme Homo_sapiens NPL 320 33116.95 7.413 Involved in catalytic activity Catalyzes the cleavage of N-acetylneuraminic acid (sialic acid) to form pyruvate and N-acetylmannosamine via a Schiff base intermediate. It prevents sialic acids from being recycled and returning to the cell surface. Involved in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway. Although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded (By similarity). AF338436 13430285 NPL 1 1q25 NPL HGNC:16781 true hsa:80896 NP_001186979.1:NM_001200050.1;NP_001186980.1:NM_001200051.1;NP_001186985.1:NM_001200056.1;NP_110396.1:NM_030769.2 Isoform 2 is expressed in placenta, liver, kidney, pancreas, spleen, thymus, ovary, small intestine and peripheral blood leukocyte. Homotetramer 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2597 CDBP02596 Gamma-glutamyltransferase 6 Q6P531 GGT6_HUMAN true false Enzyme Homo_sapiens GGT6 493 50508.83 6.079 Involved in gamma-glutamyltransferase activity Cleaves glutathione conjugates (By similarity). NM_001122890.1 171543825 GGT6 17 17p13.2 GGT6 HGNC:26891 true hsa:124975 NP_001116362.1:NM_001122890.1;NP_699169.2:NM_153338.2 Heterodimer composed of the light and heavy chains. The active site is located in the light chain 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2598 CDBP02597 HCG14925, isoform CRA_a Q53F23 Q53F23_HUMAN true false Enzyme Homo_sapiens 534 60648.9 7.68 Involved in monooxygenase activity ["None"] ["None"] AK223466 62898664 hCG_14925 HGNC:11609 true 2020-06-12T23:07:06Z 2020-07-28T02:27:59Z 0 1 0 2599 CDBP02598 Probable arginine--tRNA ligase, mitochondrial Q5T160 SYRM_HUMAN true false Enzyme Homo_sapiens RARS2 578 65504.855 8.212 Involved in nucleotide binding AK023550 10435519 RARS2 6 6q16.1 RARS2 HGNC:21406 true hsa:57038 NP_064716.2:NM_020320.3 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2600 CDBP02599 Putative uncharacterized protein DKFZp686B0215 Q5HYI4 Q5HYI4_HUMAN true false Enzyme Homo_sapiens DKFZp686B0215 574 63793.4 8.73 Involved in oxidoreductase activity ["None"] ["None"] BX647605 57997512 DKFZp686B0215 DKFZp686B0215 HGNC:11279 true 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2601 CDBP02600 Acetolactate synthase-like protein A1L0T0 ILVBL_HUMAN true false Enzyme Homo_sapiens ILVBL 632 67867.2 8.22 Involved in magnesium ion binding ["None"] ["13-33"] AC003956 2725625 ILVBL Chromosome:1 19p13.1 ILVBL HGNC:6041 true 2020-06-12T23:07:06Z 2020-07-28T02:27:59Z 0 1 0 2602 CDBP02601 Cytochrome P450 21-hydroxylase Q16874 Q16874_HUMAN true false Enzyme Homo_sapiens P450-CYP21B 495 56000.9 7.9 Involved in monooxygenase activity ["None"] ["None"] AF019413 2347138 P450-CYP21B P450-CYP21B HGNC:2600 true 2020-06-12T23:07:06Z 2020-07-28T02:27:59Z 0 1 0 2603 CDBP02602 Fumarate hydratase B1ANK7 B1ANK7_HUMAN true false Enzyme Homo_sapiens FH 510 54636.6 9.17 Involved in fumarate hydratase activity ["None"] ["None"] AK312415 189065486 FH Chromosome:1 1q42.1 FH HGNC:3700 true 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2604 CDBP02603 Probable cysteine--tRNA ligase, mitochondrial Q9HA77 SYCM_HUMAN true false Enzyme Homo_sapiens CARS2 564 62223.345 8.334 Involved in nucleotide binding AK022180 CARS2 13 13q34 CARS2 HGNC:25695 true hsa:79587 NP_078813.1:NM_024537.2 zinc ion 2020-06-12T23:07:06Z 2020-07-28T02:27:59Z 0 1 0 2605 CDBP02604 Enoyl-CoA delta isomerase 2, mitochondrial O75521 PECI_HUMAN true false Enzyme Homo_sapiens ECI2 394 40182.735 8.767 Involved in acyl-CoA binding Able to isomerize both 3-cis and 3-trans double bonds into the 2-trans form in a range of enoyl-CoA species. Has a preference for 3-trans substrates (By similarity). 2CQU;2F6Q NM_206836.2 260274832 PECI 6 6p24.3 PECI HGNC:14601 true hsa:10455 NP_001159482.1:NM_001166010.1;NP_006108.2:NM_006117.2;NP_996667.2:NM_206836.2 Abundant in heart, skeletal muscle and liver. Expressed in CD34(+) T-cells and CD34(+) bone marrow cells. 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2606 CDBP02605 RuvB-like 2 Q9Y230 RUVB2_HUMAN true false Enzyme Homo_sapiens RUVBL2 463 51156.08 5.642 Involved in nucleotide binding Possesses single-stranded DNA-stimulated ATPase and ATP-dependent DNA helicase (5' to 3') activity; hexamerization is thought to be critical for ATP hydrolysis and adjacent subunits in the ring-like structure contribute to the ATPase activity. Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. The NuA4 complex ATPase and helicase activities seem to be, at least in part, contributed by the association of RUVBL1 and RUVBL2 with EP400. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. Plays an essential role in oncogenic transformation by MYC and also modulates transcriptional activation by the LEF1/TCF1-CTNNB1 complex. May also inhibit the transcriptional activity of ATF2. 2CQA;2XSZ;3UK6 AB024301 4587311 RUVBL2 19 19q13.3 RUVBL2 HGNC:10475 true hsa:10856 NP_006657.1:NM_006666.1 Ubiquitously expressed. Highly expressed in testis and thymus. Forms homohexameric rings (Probable). Can form a dodecamer with RUVBL1 made of two stacked hexameric rings; however, even though RUVBL1 and RUVBL2 are present in equimolar ratio, the oligomeric status of each hexamer is not known. Oligomerization may regulate binding to nucleic acids and conversely, binding to nucleic acids may affect the dodecameric assembly. Interacts with the transcriptional activation domain of MYC. Interacts With ATF2. Component of the RNA polymerase II holoenzyme complex. May also act to bridge the LEF1/TCF1-CTNNB1 complex and TBP. Component of the NuA4 histone acetyltransferase complex which contains the catalytic subunit KAT5/TIP60 and the subunits EP400, TRRAP/PAF400, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, ING3, actin, ACTL6A/BAF53A, MORF4L1/MRG15, MORF4L2/MRGX, MRGBP, YEATS4/GAS41, VPS72/YL1 and MEAF6. The NuA4 complex interacts with MYC and the adenovirus E1A protein. RUVBL2 interacts with EP400. Component of a NuA4-related complex which contains EP400, TRRAP/PAF400, SRCAP, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, actin, ACTL6A/BAF53A, VPS72 and YEATS4/GAS41. Interacts with NPAT. Component of the chromatin-remodeling INO80 complex; specifically part of a complex module associated with the helicase ATP-binding and the helicase C-terminal domain of INO80. Component of some MLL1/MLL complex, at least composed of the core components MLL, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, MYST1/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Interacts with IGHMBP2. Interacts with TELO2 2020-06-12T23:07:06Z 2020-07-28T02:27:59Z 0 0 1 2607 CDBP02606 Methionyl-tRNA formyltransferase, mitochondrial Q96DP5 FMT_HUMAN true false Enzyme Homo_sapiens MTFMT 389 43831.73 9.663 Involved in methionyl-tRNA formyltransferase activity Formylates methionyl-tRNA in mitochondria. A single tRNA(Met) gene gives rise to both an initiator and an elongator species via an unknown mechanism (By similarity). NM_139242.3 164663775 MTFMT 15 15q22.31 MTFMT HGNC:29666 true hsa:123263 NP_640335.2:NM_139242.3 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2608 CDBP02607 Monofunctional C1-tetrahydrofolate synthase, mitochondrial Q6UB35 C1TM_HUMAN true false Enzyme Homo_sapiens MTHFD1L 978 105888.19 8.058 Involved in formate-tetrahydrofolate ligase activity May provide the missing metabolic reaction required to link the mitochondria and the cytoplasm in the mammalian model of one-carbon folate metabolism in embryonic an transformed cells complementing thus the enzymatic activities of MTHFD2 (By similarity). AY374130 MTHFD1L 6 6q25.1 MTHFD1L HGNC:21055 true hsa:25902 NP_001229696.1:NM_001242767.1;NP_001229697.1:NM_001242768.1;NP_001229698.1:NM_001242769.1;NP_056255.2:NM_015440.4 Detected in most tissues, highest expression found in placenta, thymus and brain. Low expression is found in liver and skeletal muscle. Up-regulated in colon adenocarcinoma. Homodimer 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2609 CDBP02608 Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase Q7Z650 Q7Z650_HUMAN true false Enzyme Homo_sapiens MTHFD2 248 26849.1 7.22 Involved in catalytic activity ["None"] ["None"] AK300035 194390168 MTHFD2 Chromosome:2 2p13.1 MTHFD2 HGNC:7434 true 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2610 CDBP02609 Probable glutamate--tRNA ligase, mitochondrial Q5JPH6 SYEM_HUMAN true false Enzyme Homo_sapiens EARS2 523 58688.1 8.769 Involved in nucleotide binding Catalyzes the attachment of glutamate to tRNA(Glu) in a two-step reaction: glutamate is first activated by ATP to form Glu-AMP and then transferred to the acceptor end of tRNA(Glu) (By similarity). NM_001083614.1 134288884 EARS2 16 16p12.2 EARS2 HGNC:29419 true hsa:124454 NP_001077083.1:NM_001083614.1 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2611 CDBP02610 Thioredoxin domain-containing protein 12 O95881 TXD12_HUMAN true false Enzyme Homo_sapiens TXNDC12 172 19205.615 5.405 Involved in cell redox homeostasis Possesses significant protein thiol-disulfide oxidase activity. 1SEN;2K8V AF131758 4406577 TXNDC12 1 1p32.3 TXNDC12 HGNC:24626 true hsa:51060 NP_056997.1:NM_015913.3 Widely expressed. 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2612 CDBP02611 Glycerate kinase Q8IVS8 GLCTK_HUMAN true false Enzyme Homo_sapiens GLYCTK 523 25036.865 8.614 Carbohydrate transport and metabolism AF448855 30911055 GLYCTK 3 3p21.1 GLYCTK HGNC:24247 true hsa:132158 NP_001138423.1:NM_001144951.1;NP_660305.2:NM_145262.3 Widely expressed. 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2613 CDBP02612 Putative uncharacterized protein DKFZp451B1115 Q86T70 Q86T70_HUMAN true false Enzyme Homo_sapiens DKFZp451B1115 828 93735.9 7.89 Involved in acyltransferase activity ["None"] ["None"] AL833061 30268347 DKFZp451B1115 DKFZp451B1115 HGNC:24865 true 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2614 CDBP02613 UDP-glucose:glycoprotein glucosyltransferase 2 Q9NYU1 UGGG2_HUMAN true false Enzyme Homo_sapiens UGGT2 1516 174717.7 6.88 Involved in transferase activity, transferring glycosyl groups Recognizes glycoproteins with minor folding defects. Reglucosylates single N-glycans near the misfolded part of the protein, thus providing quality control for protein folding in the endoplasmic reticulum. Reglucosylated proteins are recognized by calreticulin for recycling to the endoplasmic reticulum and refolding or degradation ["1-27"] ["None"] AF227906 11346464 UGGT2 Chromosome:1 13q32.1 UGGT2 HGNC:15664 true 2020-06-12T23:07:06Z 2020-07-28T02:28:00Z 0 0 0 2615 CDBP02614 Glycerophosphodiester phosphodiesterase 1 Q9NZC3 GDE1_HUMAN true false Enzyme Homo_sapiens GDE1 331 37718.04 6.706 Involved in glycerophosphodiester phosphodiesterase activity Has glycerophosphoinositol phosphodiesterase activity. Has little or no activity towards glycerophosphocholine. GDE1 activity can be modulated by G-protein signaling pathways (By similarity). AF212862 7637877 GDE1 16 16p12-p11.2 GDE1 HGNC:29644 true hsa:51573 NP_057725.1:NM_016641.3 Widely expressed. Magnesium Interacts with RGS16 . Interacts with PRAF2 2020-06-12T23:07:06Z 2020-07-28T02:28:00Z 0 1 0 2616 CDBP02615 MHC class I antigen Q95372 Q95372_HUMAN true false Enzyme Homo_sapiens HLA-B 181 21058.9 5.13 Involved in immune response ["None"] ["None"] 1XR9 U67749 1526966 HLA-B Chromosome:6 6p21.3 HLA-B HGNC:4932 true 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2617 CDBP02616 Kynurenine formamidase Q63HM1 AFMID_HUMAN true false Enzyme Homo_sapiens AFMID 303 33991.5 5.908 Involved in hydrolase activity Catalyzes the hydrolysis of N-formyl-L-kynurenine to L-kynurenine, the second step in the kynurenine pathway of tryptophan degradation. Kynurenine may be further oxidized to nicotinic acid, NAD(H) and NADP(H). Required for elimination of toxic metabolites (By similarity). BC132824 124375910 AFMID 17 17q25.3 AFMID HGNC:20910 true hsa:125061 NP_001010982.2:NM_001010982.4;NP_001138998.1:NM_001145526.2 Homodimer 2020-06-12T23:07:06Z 2020-07-28T02:28:00Z 0 0 0 2618 CDBP02617 Multiple inositol polyphosphate phosphatase 1 Q9UNW1 MINP1_HUMAN true false Enzyme Homo_sapiens MINPP1 487 34660.555 8.97 Involved in acid phosphatase activity Acts as a phosphoinositide 5- and phosphoinositide 6-phosphatase and regulates cellular levels of inositol pentakisphosphate (InsP5) and inositol hexakisphosphate (InsP6). Also acts as a 2,3-bisphosphoglycerate 3-phosphatase, by mediating the dephosphorylation of 2,3-bisphosphoglycerate (2,3-BPG) to produce phospho-D-glycerate without formation of 3-phosphoglycerate. May play a role in bone development (endochondral ossification). NM_004897.4 19923761 MINPP1 10 10q23 MINPP1 HGNC:7102 true hsa:9562 HS03025-MONOMER NP_001171588.1:NM_001178117.1;NP_001171589.1:NM_001178118.1;NP_004888.2:NM_004897.4 Widely expressed with highest levels in kidney, liver and placenta. 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2619 CDBP02618 Inositol-tetrakisphosphate 1-kinase Q13572 ITPK1_HUMAN true false Enzyme Homo_sapiens ITPK1 414 45620.645 6.161 Involved in catalytic activity Kinase that can phosphorylate various inositol polyphosphate such as Ins(3,4,5,6)P4 or Ins(1,3,4)P3. Phosphorylates Ins(3,4,5,6)P4 at position 1 to form Ins(1,3,4,5,6)P5. This reaction is thought to have regulatory importance, since Ins(3,4,5,6)P4 is an inhibitor of plasma membrane Ca(2+)-activated Cl(-) channels, while Ins(1,3,4,5,6)P5 is not. Also phosphorylates Ins(1,3,4)P3 on O-5 and O-6 to form Ins(1,3,4,6)P4, an essential molecule in the hexakisphosphate (InsP6) pathway. Also acts as an inositol polyphosphate phosphatase that dephosphorylate Ins(1,3,4,5)P4 and Ins(1,3,4,6)P4 to Ins(1,3,4)P3, and Ins(1,3,4,5,6)P5 to Ins(3,4,5,6)P4. May also act as an isomerase that interconverts the inositol tetrakisphosphate isomers Ins(1,3,4,5)P4 and Ins(1,3,4,6)P4 in the presence of ADP and magnesium. Probably acts as the rate-limiting enzyme of the InsP6 pathway. Modifies TNF-alpha-induced apoptosis by interfering with the activation of TNFRSF1A-associated death domain. 2ODT;2Q7D;2QB5 AF279372 12006346 ITPK1 14 14q31 ITPK1 HGNC:6177 true hsa:3705 HS02123-MONOMER NP_001136065.1:NM_001142593.1;NP_001136066.1:NM_001142594.1;NP_055031.2:NM_014216.4 Expressed in brain > heart > skeletal muscle = kidney = pancreas = liver = placenta > lung. In brain, it is expressed in cerebellum, cerebral cortex, medulla, spinal cord, occipital lobe, frontal lobe, temporal lobe and putamen. magnesium ions Monomer. Interacts with GPS1/COPS1 2020-06-12T23:07:06Z 2020-07-28T02:28:00Z 0 1 0 2620 CDBP02619 Phosphatidylglycerophosphatase and protein-tyrosine phosphatase 1 Q8WUK0 PTPM1_HUMAN true false Enzyme Homo_sapiens PTPMT1 201 16458.74 10.96 Involved in phosphatase activity Lipid phosphatase which dephosphorylates phosphatidylglycerophosphate (PGP) to phosphatidylglycerol (PG). PGP is an essential intermediate in the biosynthetic pathway of cardiolipin, a mitochondrial-specific phospholipid regulating the membrane integrity and activities of the organelle. Has also been shown to display phosphatase activity toward phosphoprotein substrates, specifically mediates dephosphorylation of mitochondrial proteins, thereby playing an essential role in ATP production. Has probably a preference for proteins phosphorylated on Ser and/or Thr residues compared to proteins phosphorylated on Tyr residues. Probably involved in regulation of insulin secretion in pancreatic beta cells (By similarity). NM_175732.2 148224884 PTPMT1 11 11p11.2 PTPMT1 HGNC:26965 true hsa:114971 HS03319-MONOMER NP_001137456.1:NM_001143984.1;NP_783859.1:NM_175732.2 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2621 CDBP02620 Acyl-CoA synthetase family member 4 Q4L235 ACSF4_HUMAN true true Enzyme Homo_sapiens AASDH 1098 122596.1 7.26 Involved in acyl carrier activity Acyl-CoA synthases catalyze the initial reaction in fatty acid metabolism, by forming a thioester with CoA ["None"] ["None"] NM_181806.2 45580730 AASDH Chromosome:4 4q12 AASDH HGNC:23993 true 2020-06-12T23:07:06Z 2020-07-28T02:28:00Z 0 0 0 2622 CDBP02621 Aminoadipate-semialdehyde synthase A4D0W4 A4D0W4_HUMAN true false Enzyme Homo_sapiens AASS 926 102130.9 6.62 Involved in oxidoreductase activity ["None"] ["None"] NM_005763.3 13027640 AASS Chromosome:7 7q31.3 AASS HGNC:17366 true 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2623 CDBP02622 Peroxisomal NADH pyrophosphatase NUDT12 Q9BQG2 NUD12_HUMAN true false Enzyme Homo_sapiens NUDT12 462 52075.475 6.829 Involved in hydrolase activity Hydrolyzes NAD(P)H to NMNH and AMP (2',5'-ADP), and diadenosine diphosphate to AMP. Has also activity towards NAD(P)(+), ADP-ribose and diadenosine triphosphate. May act to regulate the concentration of peroxisomal nicotinamide nucleotide cofactors required for oxidative metabolism in this organelle. AK098066 193783663 NUDT12 5 5q21.2 NUDT12 HGNC:18826 true hsa:83594 NP_113626.1:NM_031438.2 Magnesium or manganese 2020-06-12T23:07:06Z 2020-07-28T02:28:00Z 0 1 0 2624 CDBP02623 Putative uncharacterized protein PGD A9Z1X1 A9Z1X1_HUMAN true false Enzyme Homo_sapiens PGD 289 32311.5 8.75 Involved in oxidoreductase activity ["None"] ["None"] 2PGD AK303898 194384114 PGD Chromosome:1 1p36.3-p36.13 PGD HGNC:8891 true 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2625 CDBP02624 ACSS2 protein Q96FY7 Q96FY7_HUMAN true false Enzyme Homo_sapiens ACSS2 534 59346.4 5.68 Involved in acetate-CoA ligase activity ["None"] ["None"] BC010141 40226463 ACSS2 Chromosome:2 20q11.22 ACSS2 HGNC:15814 true 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2626 CDBP02625 Ribonucleoside-diphosphate reductase subunit M2 B Q7LG56 RIR2B_HUMAN true false Enzyme Homo_sapiens RRM2B 351 48786.6 7.988 Involved in oxidoreductase activity Plays a pivotal role in cell survival by repairing damaged DNA in a p53/TP53-dependent manner. Supplies deoxyribonucleotides for DNA repair in cells arrested at G1 or G2. Contains an iron-tyrosyl free radical center required for catalysis. Forms an active ribonucleotide reductase (RNR) complex with RRM1 which is expressed both in resting and proliferating cells in response to DNA damage. 2VUX;3HF1;4DJN AB036063 RRM2B 8 8q23.1 RRM2B HGNC:17296 true hsa:50484 NP_001165948.1:NM_001172477.1;NP_001165949.1:NM_001172478.1;NP_056528.2:NM_015713.4 Widely expressed at a high level in skeletal muscle and at a weak level in thymus. Expressed in epithelial dysplasias and squamous cell carcinoma. iron ions Heterotetramer with large (RRM1) subunit. Interacts with p53/TP53. Interacts with RRM1 in response to DNA damage 2020-06-12T23:07:06Z 2020-07-28T02:28:01Z 0 1 0 2627 CDBP02626 Inosine-5'-monophosphate dehydrogenase A4D0Z6 A4D0Z6_HUMAN true false Enzyme Homo_sapiens IMPDH1 599 64319.3 7.03 Involved in catalytic activity Inosine 5'-phosphate + NAD(+) + H(2)O = xanthosine 5'-phosphate + NADH ["None"] ["None"] 1JCN NM_000883.3 34328930 IMPDH1 Chromosome:7 7q31.3-q32 IMPDH1 HGNC:6052 true 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2628 CDBP02627 UMP-CMP kinase 2, mitochondrial Q5EBM0 CMPK2_HUMAN true false Enzyme Homo_sapiens CMPK2 449 44958.27 7.383 Involved in thymidylate kinase activity May participate in dUTP and dCTP synthesis in mitochondria. Is able to phosphorylate dUMP, dCMP, CMP, UMP and monophosphates of the pyrimidine nucleoside analogs ddC, dFdC, araC, BVDU and FdUrd with ATP as phosphate donor. Efficacy is highest for dUMP followed by dCMP; CMP and UMP are poor substrates. May be involved in mtDNA depletion caused by long term treatment with ddC or other pyrimidine analogs. NM_207315.2 117606370 CMPK2 2 2p25.2 CMPK2 HGNC:27015 true hsa:129607 NP_001243406.1:NM_001256477.1;NP_001243407.1:NM_001256478.1;NP_997198.2:NM_207315.3 Among all investigated tumors, leukemia cells show the most abundant expression. 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2629 CDBP02628 Uridine-cytidine kinase-like 1 Q9NWZ5 UCKL1_HUMAN true false Enzyme Homo_sapiens UCKL1 548 59465.77 7.969 Involved in ATP binding May contribute to UTP accumulation needed for blast transformation and proliferation. NM_017859.3 57863312 UCKL1 20 20q13.33 UCKL1 HGNC:15938 true hsa:54963 NP_001180308.1:NM_001193379.1;NP_060329.2:NM_017859.3 Ubiquitous. Interacts with RNF19B and EBV EBNA3 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2630 CDBP02629 Malic enzyme Q8TBJ0 Q8TBJ0_HUMAN true false Enzyme Homo_sapiens ME3 604 66924.7 7.75 Involved in oxidoreductase activity ["None"] ["None"] BC022472 18490280 ME3 Chromosome:1 11cen-q22.3 ME3 HGNC:6985 true 2020-06-12T23:07:06Z 2020-07-28T02:28:01Z 0 1 0 2631 CDBP02630 FAD synthase Q8NFF5 FAD1_HUMAN true false Enzyme Homo_sapiens FLAD1 587 49197.795 5.962 Involved in FMN adenylyltransferase activity Catalyzes the adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme. NM_025207.4 41872389 FLAD1 1 1q21.3 FLAD1 HGNC:24671 true hsa:80308 HS08520-MONOMER NP_001171820.1:NM_001184891.1;NP_001171821.1:NM_001184892.1;NP_079483.3:NM_025207.4;NP_958800.1:NM_201398.2 Magnesium 2020-06-12T23:07:06Z 2020-07-28T02:28:01Z 0 0 0 2632 CDBP02631 Alkaline ceramidase 3 Q9NUN7 ACER3_HUMAN true false Enzyme Homo_sapiens ACER3 267 Involved in hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides Hydrolyzes only phytoceramide into phytosphingosine and free fatty acid. Does not have reverse activity. AF214454 14669436 ACER3 ACER3 HGNC:16066 true hsa:55331 NP_060837.3:NM_018367.5 Ubiquitously expressed. Highest expression in placenta. 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2633 CDBP02632 Sphingolipid delta(4)-desaturase/C4-hydroxylase DES2 Q6QHC5 DEGS2_HUMAN true false Enzyme Homo_sapiens DEGS2 323 37197.0 9.62 Involved in oxidoreductase activity Bifunctional enzyme which acts as both a sphingolipid delta(4)-desaturase and a sphingolipid C4-hydroxylase ["None"] ["45-65", "68-88", "210-231"] NM_206918.2 207113139 DEGS2 Chromosome:1 14q32.2 DEGS2 HGNC:20113 true 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2634 CDBP02633 Glucan , branching enzyme 1 variant Q59ET0 Q59ET0_HUMAN true false Enzyme Homo_sapiens 754 86112.7 6.93 Involved in catalytic activity ["None"] ["None"] AB209731 62089042 HGNC:4180 true 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2635 CDBP02634 Indoleamine 2,3-dioxygenase 2 Q6ZQW0 I23O2_HUMAN true false Enzyme Homo_sapiens IDO2 407 47074.745 6.897 Involved in heme binding Catalyzes the first and rate-limiting step in the kynurenine pathway of tryptophan catabolism. EF052681 145204985 IDO2 8 8p11.21 IDO2 HGNC:27269 true hsa:169355 NP_919270.2:NM_194294.2 Detected in liver, small intestine, spleen, placenta, thymus, lung, brain, kidney, and colon. heme group 2020-06-12T23:07:06Z 2020-07-28T02:28:01Z 0 1 0 2636 CDBP02635 Cytochrome P450, family 1, subfamily A, polypeptide 1 A0N0X8 A0N0X8_HUMAN true false Enzyme Homo_sapiens CYP1A1 512 58164.8 8.47 Involved in monooxygenase activity ["None"] ["None"] AK313880 189067013 CYP1A1 Chromosome:1 15q24.1 CYP1A1 HGNC:2595 true 2020-06-12T23:07:06Z 2020-07-28T02:28:01Z 0 1 0 2637 CDBP02636 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial Q5HYK3 COQ5_HUMAN true false Enzyme Homo_sapiens COQ5 327 37140.17 6.942 Involved in methyltransferase activity Methyltransferase required for the conversion of 2-polyprenyl-6-methoxy-1,4-benzoquinol (DDMQH2) to 2-polyprenyl-3-methyl-6-methoxy-1,4-benzoquinol (DMQH2) (By similarity). NM_032314.3 116063536 COQ5 12 12q24.31 COQ5 HGNC:28722 true hsa:84274 NP_115690.3:NM_032314.3 2020-06-12T23:07:06Z 2020-07-28T02:28:01Z 0 0 0 2638 CDBP02637 Ubiquinone biosynthesis monooxygenase COQ6 Q9Y2Z9 COQ6_HUMAN true false Enzyme Homo_sapiens COQ6 468 Involved in monooxygenase activity AF132944 4680659 COQ6 COQ6 HGNC:20233 true hsa:51004 NP_872282.1:NM_182476.2;NP_872286.2:NM_182480.2 Widely epressed. FAD 2020-06-12T23:07:06Z 2020-07-28T02:28:01Z 0 0 0 2639 CDBP02638 Valine--tRNA ligase, mitochondrial Q5ST30 SYVM_HUMAN true false Enzyme Homo_sapiens VARS2 1063 102414.65 6.55 Involved in nucleotide binding NM_020442.4 268370293 VARS2 6 6p21.33 VARS2 HGNC:21642 true hsa:57176 NP_001161205.1:NM_001167733.1;NP_001161206.1:NM_001167734.1;NP_065175.4:NM_020442.4 2020-06-12T23:07:06Z 2020-06-12T23:07:06Z 0 0 0 2640 CDBP02639 Bestrophin-1 O76090 BEST1_HUMAN false false Enzyme Homo_sapiens BEST1 585 67683.1 6.91 Involved in chloride channel activity Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate ["None"] ["26-46", "71-91", "179-199", "271-291"] AF057169 3335159 BEST1 Chromosome:1 11q13 BEST1 HGNC:12703 true 2020-06-12T23:07:06Z 2020-07-28T02:33:51Z 0 0 0 2641 CDBP02640 Bestrophin-2 Q8NFU1 BEST2_HUMAN false false Enzyme Homo_sapiens BEST2 509 57138.4 4.86 Posttranslational modification, protein turnover, chaperones Forms calcium-sensitive chloride channels. Permeable to bicarbonate ["None"] ["26-46", "71-91", "179-199", "271-291"] AF440756 21734840 BEST2 Chromosome:1 19p13.2 BEST2 HGNC:17107 true 2020-06-12T23:07:06Z 2020-07-28T02:33:51Z 0 0 0 2642 CDBP02641 Bestrophin-3 Q8N1M1 BEST3_HUMAN false false Enzyme Homo_sapiens BEST3 668 76106.0 6.56 Involved in chloride channel activity Forms calcium-sensitivechloride channels. Permeable to bicarbonate ["None"] ["26-46", "71-91", "179-199", "271-291"] NM_032735.2 115527104 BEST3 Chromosome:1 12q14.2-q15 BEST3 HGNC:17105 true 2020-06-12T23:07:06Z 2020-07-28T02:33:51Z 0 0 0 2643 CDBP02642 Bestrophin-4 Q8NFU0 BEST4_HUMAN false false Enzyme Homo_sapiens BEST4 473 53496.7 5.87 Involved in chloride channel activity Forms calcium-sensitive chloride channels. Permeable to bicarbonate ["None"] ["26-46", "71-91", "179-199", "286-306"] AF440757 21734842 BEST4 Chromosome:1 1p33-p32.3 true 2020-06-12T23:07:06Z 2020-07-28T02:33:51Z 0 0 0 2644 CDBP02643 Solute carrier family 26 member 10 Q8NG04 S2610_HUMAN false true Transporter Homo_sapiens SLC26A10 563 60058.5 8.34 Involved in transporter activity Chloride/bicarbonate exchanger ["None"] ["45-65", "75-91", "116-136", "152-172", "352-372"] NM_133489.2 65506789 SLC26A10 Chromosome:1 12q13 SLC26A10 HGNC:14470 true 2020-06-12T23:07:06Z 2020-07-28T02:32:10Z 0 0 0 2645 CDBP02644 Prestin P58743 S26A5_HUMAN false true Transporter Homo_sapiens SLC26A5 744 81263.0 6.21 Involved in secondary active sulfate transmembrane transporter activity Motor protein that converts auditory stimuli to length changes in outer hair cells and mediates sound amplification in the mammalian hearing organ. Prestin is a bidirectional voltage- to-force converter, it can operate at microsecond rates. It uses cytoplasmic anions as extrinsic voltage sensors, probably chloride and bicarbonate. After binding to a site with millimolar affinity, these anions are translocated across the membrane in response to changes in the transmembrane voltage. They move towards the extracellular surface following hyperpolarization, and towards the cytoplasmic side in response to depolarization. As a consequence, this translocation triggers conformational changes in the protein that ultimately alter its surface area in the plane of the plasma membrane. The area decreases when the anion is near the cytoplasmic face of the membrane (short state), and increases when the ion has crossed the membrane to the outer surface (long state). So, it acts as an incomplete transporter. It swings anions across the membrane, but does not allow these anions to dissociate and escape to the extracellular space. Salicylate, an inhibitor of outer hair cell motility, acts as competitive antagonist at the prestin anion-binding site ["None"] ["80-100", "103-123", "132-152", "184-204", "212-232", "254-274", "287-307", "335-355", "375-395", "412-432", "442-462", "480-500"] AF523354 SLC26A5 Chromosome:7 7q22.1 SLC26A5 HGNC:9359 true 2020-06-12T23:07:06Z 2020-07-28T02:32:10Z 0 0 0 2646 CDBP02645 Sodium/hydrogen exchanger 10 Q4G0N8 S9A10_HUMAN false true Transporter Homo_sapiens SLC9A10 1177 135204.6 7.14 Involved in solute:hydrogen antiporter activity Sperm-specific sodium/hydrogen exchanger involved in intracellular pH regulation of spermatozoa. Required for sperm motility and fertility. Involved in sperm cell hyperactivation, a step needed for sperm motility which is essential late in the preparation of sperm for fertilization. Required for the expression and bicarbonate regulation of the soluble adenylyl cyclase (sAC) ["None"] ["8-28", "39-59", "73-93", "103-123", "138-158", "167-187", "204-224", "248-268", "301-321", "333-353", "364-384", "405-425", "613-633", "646-666", "675-695", "707-727"] AK128084 34535281 SLC9A10 Chromosome:3 3q13.2 SLC9A10 HGNC:31401 true 2020-06-12T23:07:06Z 2020-07-28T02:32:10Z 0 0 0 2647 CDBP02646 Neuronal acetylcholine receptor subunit alpha-10 Q9GZZ6 ACH10_HUMAN false true Receptor Homo_sapiens CHRNA10 450 49704.3 7.97 Involved in extracellular ligand-gated ion channel activity Ionotropic receptor with a probable role in the modulation of auditory stimuli. Agonist binding may induce an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. The channel is permeable to a range of divalent cations including calcium, the influx of which may activate a potassium current which hyperpolarizes the cell membrane. In the ear, this may lead to a reduction in basilar membrane motion, altering the activity of auditory nerve fibers and reducing the range of dynamic hearing. This may protect against acoustic trauma ["1-24"] ["238-258", "268-288", "302-322", "429-449"] AJ278118 12053839 CHRNA10 Chromosome:1 11p15.5 CHRNA10 HGNC:13800 true 2020-06-12T23:07:06Z 2020-07-28T02:28:02Z 1 0 0 2648 CDBP02647 Neuronal acetylcholine receptor subunit alpha-9 Q9UGM1 ACHA9_HUMAN false true Receptor Homo_sapiens CHRNA9 479 54806.6 6.42 Involved in extracellular ligand-gated ion channel activity Ionotropic receptor with a probable role in the modulation of auditory stimuli. Agonist binding may induce an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. The channel is permeable to a range of divalent cations including calcium, the influx of which may activate a potassium current which hyperpolarizes the cell membrane. In the ear, this may lead to a reduction in basilar membrane motion, altering the activity of auditory nerve fibers and reducing the range of dynamic hearing. This may protect against acoustic trauma. May also regulate keratinocyte adhesion ["1-25"] ["238-262", "269-287", "302-323", "458-476"] AJ243342 6688136 CHRNA9 Chromosome:4 4p14 CHRNA9 HGNC:14079 true 2020-06-12T23:07:06Z 2020-07-28T02:28:02Z 1 0 0 2649 CDBP02648 Alpha-1A adrenergic receptor P35348 ADA1A_HUMAN false false Receptor Homo_sapiens ADRA1A 466 51486.0 9.23 Involved in G-protein coupled receptor protein signaling pathway This alpha-adrenergic receptor mediates its action by association with G proteins that activate a phosphatidylinositol- calcium second messenger system. Its effect is mediated by G(q) and G(11) proteins ["None"] ["28-51", "65-88", "100-122", "144-167", "182-205", "274-297", "306-329"] AB065703 21928677 ADRA1A Chromosome:8 8p21.2 ADRA1A HGNC:277 true 2020-06-12T23:07:06Z 2020-07-28T02:28:02Z 1 0 0 2650 CDBP02649 Alpha-1B adrenergic receptor P35368 ADA1B_HUMAN false false Receptor Homo_sapiens ADRA1B 520 56835.4 9.79 Involved in G-protein coupled receptor protein signaling pathway This alpha-adrenergic receptor mediates its action by association with G proteins that activate a phosphatidylinositol- calcium second messenger system ["None"] ["46-70", "84-105", "116-141", "162-184", "202-224", "296-319", "327-351"] U03865 ADRA1B Chromosome:5 5q33.3 ADRA1B HGNC:278 true 2020-06-12T23:07:06Z 2020-07-28T02:28:02Z 1 0 0 2651 CDBP02650 Alpha-1D adrenergic receptor P25100 ADA1D_HUMAN false false Receptor Homo_sapiens ADRA1D 572 60462.2 9.44 Involved in G-protein coupled receptor protein signaling pathway This alpha-adrenergic receptor mediates its effect through the influx of extracellular calcium ["None"] ["96-121", "134-159", "170-192", "214-238", "252-275", "349-373", "381-405"] AL121675 56204084 ADRA1D Chromosome:2 20p13 ADRA1D HGNC:280 true 2020-06-12T23:07:06Z 2020-07-28T02:28:02Z 1 0 0 2652 CDBP02651 A-kinase anchor protein 7 isoforms alpha and beta O43687 AKA7A_HUMAN true false Enzyme Homo_sapiens AKAP7 104 11464.4 4.6 Involved in protein kinase A binding Targets the cAMP-dependent protein kinase (PKA) to the plasma membrane, and permits functional coupling to the L-type calcium channel ["None"] ["None"] NM_138633.1 20336196 AKAP7 Chromosome:6 6q23 true 2020-06-12T23:07:06Z 2020-07-28T02:28:02Z 0 0 0 2653 CDBP02652 A-kinase anchor protein 13 Q12802 AKP13_HUMAN true false Enzyme Homo_sapiens AKAP13 2813 307547.7 4.88 Involved in Rho guanyl-nucleotide exchange factor activity Anchors cAMP-dependent protein kinase (PKA) and acts as an adapter protein to selectively couple G alpha-13 and Rho. Augments gene activation by the estrogen receptor in an element- specific and ligand-dependent manner. Activates estrogen receptor beta by a p38 MAPK-dependent pathway. Isoform 6 stimulates exchange activity on Rho proteins in vitro, but not on CDC42, Ras or Rac and may bind calcium ions ["None"] ["None"] AB055890 15207794 AKAP13 Chromosome:1 15q24-q25 AKAP13 HGNC:371 true 2020-06-12T23:07:06Z 2020-07-28T02:28:02Z 0 0 0 2654 CDBP02653 Anoctamin-10 Q9NW15 ANO10_HUMAN false false Enzyme Homo_sapiens ANO10 660 76328.6 7.46 Involved in chloride channel activity May act as a calcium-activated chloride channel ["None"] ["208-228", "241-261", "317-337", "353-373", "401-421", "501-521", "554-574", "591-611"] NM_018075.3 94536803 ANO10 Chromosome:3 3p22.1 ANO10 HGNC:25519 true 2020-06-12T23:07:06Z 2020-07-28T02:33:51Z 0 0 0 2655 CDBP02654 Anoctamin-1 Q5XXA6 ANO1_HUMAN false false Enzyme Homo_sapiens ANO1 986 114077.2 8.71 Involved in intracellular calcium activated chloride ch Acts as a calcium-activated chloride channel. Required for normal tracheal development ["None"] ["334-354", "403-423", "520-540", "566-586", "607-627", "732-752", "792-812", "883-903"] NM_018043.5 194306539 ANO1 Chromosome:1 11q13.3 ANO1 HGNC:21625 true 2020-06-12T23:07:06Z 2020-07-28T02:33:51Z 0 0 0 2656 CDBP02655 Anoctamin-2 Q9NQ90 ANO2_HUMAN false false Enzyme Homo_sapiens ANO2 1003 113968.4 6.52 Involved in intracellular calcium activated chloride ch Acts as a calcium-activated chloride channel (CaCC), mostly in photoreceptors. May mediate olfactory amplification in olfactory sensory neurons (OSNs) and light perception amplification in retina ["None"] ["366-386", "435-455", "539-559", "583-603", "624-644", "749-769", "802-822", "908-928"] FJ384095 219809115 ANO2 Chromosome:1 12p13.3 ANO2 HGNC:1183 true 2020-06-12T23:07:06Z 2020-07-28T02:33:51Z 0 0 0 2657 CDBP02656 Anoctamin-3 Q9BYT9 ANO3_HUMAN false false Enzyme Homo_sapiens ANO3 981 114655.5 8.84 Involved in chloride channel activity May act as a calcium-activated chloride channel ["None"] ["404-424", "470-490", "551-571", "593-613", "641-661", "762-782", "811-831", "915-935"] NM_031418.2 156766084 ANO3 Chromosome:1 11p14.2 ANO3 HGNC:14004 true 2020-06-12T23:07:06Z 2020-07-28T02:33:51Z 0 0 0 2658 CDBP02657 Anoctamin-4 Q32M45 ANO4_HUMAN false false Enzyme Homo_sapiens ANO4 955 111460.6 8.26 Involved in chloride channel activity May act as a calcium-activated chloride channel ["None"] ["353-373", "425-445", "506-526", "548-568", "596-616", "716-736", "769-789", "886-906"] BC109308 80478369 ANO4 Chromosome:1 12q23.1 true 2020-06-12T23:07:06Z 2020-07-28T02:33:51Z 0 0 0 2659 CDBP02658 Anoctamin-5 Q75V66 ANO5_HUMAN false false Enzyme Homo_sapiens ANO5 913 107186.7 6.79 Involved in chloride channel activity May act as a calcium-activated chloride channel ["None"] ["300-320", "381-401", "463-483", "512-532", "558-578", "680-700", "733-753", "835-855"] AB125267 46849562 ANO5 Chromosome:1 11p14.3 ANO5 HGNC:27337 true 2020-06-12T23:07:07Z 2020-07-28T02:33:51Z 0 0 0 2660 CDBP02659 Anoctamin-6 Q4KMQ2 ANO6_HUMAN false false Enzyme Homo_sapiens ANO6 910 106164.1 7.83 Involved in chloride channel activity May act as a calcium-activated chloride channel ["None"] ["295-315", "376-396", "455-475", "514-534", "552-572", "670-690", "726-746", "825-845"] NM_001025356.2 218156299 ANO6 Chromosome:1 12q12 ANO6 HGNC:25240 true 2020-06-12T23:07:07Z 2020-07-28T02:33:51Z 0 0 0 2661 CDBP02660 Anoctamin-7 Q6IWH7 ANO7_HUMAN false false Enzyme Homo_sapiens ANO7 933 105529.5 8.1 Involved in chloride channel activity May act as a calcium-activated chloride channel. May play a role in cell-cell interactions ["None"] ["356-376", "421-441", "500-520", "551-571", "589-609", "715-735", "764-784", "844-864"] AY617079 48093524 ANO7 Chromosome:2 2q37.3 true 2020-06-12T23:07:07Z 2020-07-28T02:33:51Z 0 0 0 2662 CDBP02661 Anoctamin-8 Q9HCE9 ANO8_HUMAN false false Enzyme Homo_sapiens ANO8 1232 136033.0 5.6 Cell cycle control, cell division, chromosome partitioning May act as a calcium-activated chloride channel ["None"] ["245-265", "282-302", "357-377", "401-421", "438-458", "751-771", "808-828", "842-862"] NM_020959.2 55741655 ANO8 Chromosome:1 19p13.11 true 2020-06-12T23:07:07Z 2020-07-28T02:33:51Z 0 0 0 2663 CDBP02662 Anoctamin-9 A1A5B4 ANO9_HUMAN false false Enzyme Homo_sapiens ANO9 782 90366.5 8.24 Involved in chloride channel activity May act as a calcium-activated chloride channel ["None"] ["199-219", "265-285", "332-352", "374-394", "424-444", "553-573", "605-625", "704-724"] NM_001012302.2 145611446 ANO9 Chromosome:1 11p15.5 true 2020-06-12T23:07:07Z 2020-07-28T02:33:51Z 0 0 0 2664 CDBP02663 Ankyrin repeat and sterile alpha motif domain-containing protein 1B Q7Z6G8 ANS1B_HUMAN false false Enzyme Homo_sapiens ANKS1B 1249 138184.2 6.33 Isoform 4 may play a role as a modulator of APP processing. Overexpression can down-regulate APP processing ["None"] ["None"] AY281131 31746739 ANKS1B Chromosome:1 12q23.1 ANKS1B HGNC:24600 true 2020-06-12T23:07:07Z 2020-07-28T02:33:51Z 0 0 0 2665 CDBP02664 Anthrax toxin receptor 2 P58335 ANTR2_HUMAN false false Receptor Homo_sapiens ANTXR2 489 53665.7 7.53 Involved in metal ion binding Necessary for cellular interactions with laminin and the extracellular matrix ["1-33"] ["319-341"] 1SHU NM_001145794.1 224809466 ANTXR2 Chromosome:4 4q21.21 true 2020-06-12T23:07:07Z 2020-07-28T02:28:03Z 1 0 0 2666 CDBP02665 Annexin A11 P50995 ANX11_HUMAN false false Metal Binding Homo_sapiens ANXA11 505 54389.3 7.77 Involved in calcium ion binding Binds specifically to calcyclin in a calcium-dependent manner. Required for midbody formation and completion of the terminal phase of cytokinesis ["None"] ["None"] AJ278463 8671171 ANXA11 Chromosome:1 10q23 ANXA11 HGNC:535 true 2020-06-12T23:07:07Z 2020-07-28T02:31:58Z 0 1 0 2667 CDBP02666 Annexin A13 P27216 ANX13_HUMAN false false Metal Binding Homo_sapiens ANXA13 316 35414.7 5.24 Involved in calcium ion binding ["None"] ["None"] NM_004306.2 51895795 ANXA13 Chromosome:8 8q24.13 true 2020-06-12T23:07:07Z 2020-07-28T02:31:58Z 0 1 0 2668 CDBP02667 Annexin A1 P04083 ANXA1_HUMAN false false Metal Binding Homo_sapiens ANXA1 346 38713.9 7.04 Involved in calcium ion binding Calcium/phospholipid-binding protein which promotes membrane fusion and is involved in exocytosis. This protein regulates phospholipase A2 activity. It seems to bind from two to four calcium ions with high affinity ["None"] ["None"] X05908 ANXA1 Chromosome:9 9q12-q21.2|9q21.13 ANXA1 HGNC:533 true 2020-06-12T23:07:07Z 2020-07-28T02:31:58Z 0 1 0 2669 CDBP02668 Annexin A4 P09525 ANXA4_HUMAN false false Metal Binding Homo_sapiens ANXA4 319 35882.4 5.9 Involved in calcium ion binding Calcium/phospholipid-binding protein which promotes membrane fusion and is involved in exocytosis ["None"] ["None"] 1ANN 4502105 ANXA4 Chromosome:2 2p13 ANXA4 HGNC:542 true 2020-06-12T23:07:07Z 2020-07-28T02:31:58Z 0 1 0 2670 CDBP02669 Annexin A6 P08133 ANXA6_HUMAN false false Metal Binding Homo_sapiens ANXA6 673 75872.5 5.28 Involved in calcium ion binding May associate with CD21. May regulate the release of Ca(2+) from intracellular stores ["None"] ["None"] 1M9I BC017046 16877589 ANXA6 Chromosome:5 5q33.1 true 2020-06-12T23:07:07Z 2020-07-28T02:31:58Z 0 1 0 2671 CDBP02670 Annexin A7 P20073 ANXA7_HUMAN false false Metal Binding Homo_sapiens ANXA7 488 52738.9 5.32 Involved in calcium ion binding Calcium/phospholipid-binding protein which promotes membrane fusion and is involved in exocytosis ["None"] ["None"] NM_004034.2 4809279 ANXA7 Chromosome:1 10q22.2 ANXA7 HGNC:545 true 2020-06-12T23:07:07Z 2020-07-28T02:31:58Z 0 1 0 2672 CDBP02671 Annexin A8 P13928 ANXA8_HUMAN false false Metal Binding Homo_sapiens ANXA8 327 36880.6 5.51 Involved in calcium ion binding This protein is an anticoagulant protein that acts as an indirect inhibitor of the thromboplastin-specific complex, which is involved in the blood coagulation cascade ["None"] ["None"] 1W3W AL591684 55665641 ANXA8 Chromosome:1 10q11.22 true 2020-06-12T23:07:07Z 2020-07-28T02:31:58Z 0 1 0 2673 CDBP02672 Arylsulfatase F P54793 ARSF_HUMAN true false Enzyme Homo_sapiens ARSF 590 65939.1 7.22 Involved in catalytic activity ["1-22"] ["None"] NM_004042.3 31742482 ARSF ARSF HGNC:721 true 2020-06-12T23:07:07Z 2020-07-28T02:28:03Z 0 0 0 2674 CDBP02673 Arylsulfatase G Q96EG1 ARSG_HUMAN true false Enzyme Homo_sapiens ARSG 525 57060.2 6.62 Inorganic ion transport and metabolism Displays arylsulfatase activity at acidic pH with pseudosubstrates, such as p-nitrocatechol sulfate and also, but with lower activity, p-nitrophenyl sulfate and 4- methylumbelliferyl sulfate ["1-16"] ["None"] NM_014960.3 45430057 ARSG Chromosome:1 17q24.2 true 2020-06-12T23:07:07Z 2020-07-28T02:28:03Z 0 0 0 2675 CDBP02674 Arylsulfatase I Q5FYB1 ARSI_HUMAN true false Enzyme Homo_sapiens ARSI 569 64029.8 8.75 Involved in catalytic activity Displays arylsulfatase activity at neutral pH, when co- expressed with SUMF1; arylsulfatase activity is measured in the secretion medium of retinal cell line, but no activity is recorded when measured in cell extracts ["1-23"] ["None"] AB448735 220983388 ARSI Chromosome:5 5q32 ARSI HGNC:32521 true 2020-06-12T23:07:07Z 2020-07-28T02:28:03Z 0 0 0 2676 CDBP02675 Arylsulfatase J Q5FYB0 ARSJ_HUMAN true false Enzyme Homo_sapiens ARSJ 599 67235.0 9.3 Inorganic ion transport and metabolism ["1-49"] ["None"] NM_024590.3 109389362 ARSJ Chromosome:4 4q26 true 2020-06-12T23:07:07Z 2020-07-28T02:28:03Z 0 0 0 2677 CDBP02676 Arylsulfatase K Q6UWY0 ARSK_HUMAN true false Enzyme Homo_sapiens ARSK 536 61450.0 9.24 Involved in catalytic activity ["1-22"] ["None"] AK303855 194384046 ARSK Chromosome:5 5q15 ARSK HGNC:25239 true 2020-06-12T23:07:07Z 2020-07-28T02:28:03Z 0 0 0 2678 CDBP02677 Asialoglycoprotein receptor 1 P07306 ASGR1_HUMAN false false Receptor Homo_sapiens ASGR1 291 33185.9 5.2 Involved in asialoglycoprotein receptor activity Mediates the endocytosis of plasma glycoproteins to which the terminal sialic acid residue on their complex carbohydrate moieties has been removed. The receptor recognizes terminal galactose and N-acetylgalactosamine units. After ligand binding to the receptor, the resulting complex is internalized and transported to a sorting organelle, where receptor and ligand are disassociated. The receptor then returns to the cell membrane surface ["None"] ["41-61"] 1DV8 AB070933 18149183 ASGR1 Chromosome:1 17p13.2 true 2020-06-12T23:07:07Z 2020-07-28T02:28:03Z 1 0 0 2679 CDBP02678 Sodium/potassium-transporting ATPase subunit gamma P54710 ATNG_HUMAN true true Enzyme Homo_sapiens FXYD2 66 7283.3 8.47 Involved in ion channel activity May be involved in forming the receptor site for cardiac glycoside binding or may modulate the transport function of the sodium ATPase ["None"] ["29-46"] AF241235 11342647 FXYD2 Chromosome:1 11q23 FXYD2 HGNC:4026 true 2020-06-12T23:07:07Z 2020-07-28T02:28:03Z 0 0 0 2680 CDBP02679 Transcriptional regulator ATRX P46100 ATRX_HUMAN false false Enzyme Homo_sapiens ATRX 2492 282583.585 6.586 Involved in nucleic acid binding Could be a global transcriptional regulator. Modifies gene expression by affecting chromatin. May be involved in brain development and facial morphogenesis. 2JM1;2LBM;2LD1;3QL9;3QLA;3QLC;3QLN U72937 6960326 ATRX X Xq21.1 ATRX HGNC:886 true hsa:546 NP_000480.2:NM_000489.3;NP_612114.1:NM_138270.2 Ubiquitous. Probably binds EZH2. Binds annexin V in a calcium and phosphatidylcholine/phosphatidylserine-dependent manner . Interacts directly with CBX5 via the PxVxL motif 2020-06-12T23:07:07Z 2020-07-28T02:33:51Z 0 1 1 2681 CDBP02680 A disintegrin and metalloproteinase with thrombospondin motifs 13 Q76LX8 ATS13_HUMAN true false Enzyme Homo_sapiens ADAMTS13 1427 153603.0 7.16 Involved in metalloendopeptidase activity Cleaves the vWF multimers in plasma into smaller forms ["1-29"] ["None"] AB069698 16117338 ADAMTS13 Chromosome:9 9q34 ADAMTS13 HGNC:1366 true 2020-06-12T23:07:07Z 2020-07-28T02:28:03Z 0 1 0 2682 CDBP02681 Putative annexin A2-like protein A6NMY6 AXA2L_HUMAN false false Metal Binding Homo_sapiens ANXA2P2 339 38658.6 6.94 Involved in calcium ion binding Calcium-regulated membrane-binding protein whose affinity for calcium is greatly enhanced by anionic phospholipids. It binds two calcium ions with high affinity. May be involved in heat-stress response ["None"] ["None"] 1W7B NM_001002858 50845388 ANXA2P2 Chromosome:9 9p13 ANXA2P2 HGNC:539 true 2020-06-12T23:07:07Z 2020-07-28T02:31:58Z 0 1 0 2683 CDBP02682 Annexin A8-like protein 1 Q5T2P8 AXA81_HUMAN false false Metal Binding Homo_sapiens ANXA8L1 327 36880.6 5.32 Involved in calcium ion binding ["None"] ["None"] 1W3W AL391137 55959378 ANXA8L1 Chromosome:1 10q11.22 true 2020-06-12T23:07:07Z 2020-07-28T02:31:58Z 0 1 0 2684 CDBP02683 Annexin A8-like protein 2 Q5VT79 AXA82_HUMAN false false Metal Binding Homo_sapiens ANXA8L2 327 36864.6 5.32 Involved in calcium ion binding ["None"] ["None"] 1W3W AK223149 62897859 ANXA8L2 Chromosome:1 10q11.22 ANXA8L2 HGNC:23335 true 2020-06-12T23:07:07Z 2020-07-28T02:31:59Z 0 1 0 2685 CDBP02684 Transforming growth factor-beta-induced protein ig-h3 Q15582 BGH3_HUMAN false false Enzyme Homo_sapiens TGFBI 683 74680.2 7.77 Cell wall/membrane/envelope biogenesis Binds to type I, II, and IV collagens. This adhesion protein may play an important role in cell-collagen interactions. In cartilage, may be involved in endochondral bone formation ["1-23"] ["None"] NM_000358.2 4507467 TGFBI Chromosome:5 5q31 TGFBI HGNC:11771 true 2020-06-12T23:07:07Z 2020-07-28T02:33:51Z 0 0 0 2686 CDBP02685 Class A basic helix-loop-helix protein 15 Q7RTS1 BHA15_HUMAN false false Transcription Factor Homo_sapiens BHLHA15 189 20818.3 11.8 Involved in transcription regulator activity Plays a role in controlling the transcriptional activity of MYOD1, ensuring that expanding myoblast populations remain undifferentiated. Repression may occur through muscle-specific E- box occupancy by homodimers. May also negatively regulate bHLH- mediated transcription through an N-terminal repressor domain. Serves as a key regulator of acinar cell function, stability, and identity. Also required for normal organelle localization in exocrine cells and for mitochondrial calcium ion transport. May function as a unique regulator of gene expression in several different embryonic and postnatal cell lineages. Binds to the E- box consensus sequence 5'-CANNTG-3' ["None"] ["None"] NM_177455.3 29126247 BHLHA15 Chromosome:7 7q21.3 BHLHA15 HGNC:22265 true 2020-06-12T23:07:07Z 2020-07-28T02:32:06Z 0 0 1 2687 CDBP02686 B2 bradykinin receptor P30411 BKRB2_HUMAN false false Receptor Homo_sapiens BDKRB2 391 44460.2 8.2 Involved in G-protein coupled receptor protein signaling pathway Receptor for bradykinin. It is associated with G proteins that activate a phosphatidylinositol-calcium second messenger system ["None"] ["61-84", "94-118", "132-153", "176-198", "222-248", "268-292", "312-335"] AF378542 14194396 BDKRB2 Chromosome:1 14q32.1-q32.2 BDKRB2 HGNC:1030 true 2020-06-12T23:07:07Z 2020-07-28T02:28:04Z 1 0 0 2688 CDBP02687 Bone morphogenetic protein 8A Q7Z5Y6 BMP8A_HUMAN false false Receptor Homo_sapiens BMP8A 402 44798.0 8.88 Involved in growth factor activity Induces cartilage and bone formation. May be the osteoinductive factor responsible for the phenomenon of epithelial osteogenesis. Plays a role in calcium regulation and bone homeostasis ["1-19"] ["None"] AL365277 55959645 BMP8A Chromosome:1 1p34.3 BMP8A HGNC:21650 true 2020-06-12T23:07:07Z 2020-07-28T02:32:17Z 1 0 0 2689 CDBP02688 Bone morphogenetic protein 8B P34820 BMP8B_HUMAN false false Receptor Homo_sapiens BMP8B 402 44768.0 8.49 Involved in growth factor activity Induces cartilage and bone formation. May be the osteoinductive factor responsible for the phenomenon of epithelial osteogenesis. Plays a role in calcium regulation and bone homeostasis ["1-19"] ["None"] AL033527 7018292 BMP8B Chromosome:1 1p35-p32 BMP8B HGNC:1075 true 2020-06-12T23:07:07Z 2020-07-28T02:32:17Z 1 0 0 2690 CDBP02689 Bombesin receptor subtype-3 P32247 BRS3_HUMAN false false Receptor Homo_sapiens BRS3 399 44410.4 8.86 Involved in G-protein coupled receptor protein signaling pathway Role in sperm cell division, maturation, or function. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system ["None"] ["42-63", "83-103", "122-143", "164-184", "221-241", "273-293", "314-333"] AY585193 50612574 BRS3 BRS3 HGNC:1113 true 2020-06-12T23:07:07Z 2020-07-28T02:28:04Z 1 0 0 2691 CDBP02690 B box and SPRY domain-containing protein Q5W0U4 BSPRY_HUMAN false false Metal Binding Homo_sapiens BSPRY 402 44380.8 6.39 Involved in zinc ion binding May regulate epithelial calcium transport by inhibiting TRPV5 activity ["None"] ["None"] AJ276691 10241474 BSPRY Chromosome:9 9q32 BSPRY HGNC:18232 true 2020-06-12T23:07:07Z 2020-07-28T02:31:59Z 0 1 0 2692 CDBP02691 Scavenger receptor cysteine-rich type 1 protein M130 Q86VB7 C163A_HUMAN false false Receptor Homo_sapiens CD163 1156 125435.7 5.84 Involved in scavenger receptor activity After shedding, the soluble form (sCD163) may play an anti-inflammatory role, and may be a valuable diagnostic parameter for monitoring macrophage activation in inflammatory conditions ["1-41"] ["1051-1071"] BC051281 30410880 CD163 Chromosome:1 12p13.3 CD163 HGNC:1631 true 2020-06-12T23:07:07Z 2020-07-28T02:28:04Z 1 0 0 2693 CDBP02692 Complement C1q subcomponent subunit A P02745 C1QA_HUMAN false false Enzyme Homo_sapiens C1QA 245 26016.5 9.45 Involved in cell-cell signaling C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement system. The collagen-like regions of C1q interact with the Ca(2+)-dependent C1r(2)C1s(2) proenzyme complex, and efficient activation of C1 takes place on interaction of the globular heads of C1q with the Fc regions of IgG or IgM antibody present in immune complexes ["1-22"] ["None"] 1PK6 AF135157 C1QA Chromosome:1 1p36.12 C1QA HGNC:1241 true 2020-06-12T23:07:07Z 2020-07-28T02:33:51Z 0 0 0 2694 CDBP02693 Complement C1q subcomponent subunit B P02746 C1QB_HUMAN false false Enzyme Homo_sapiens C1QB 253 26721.6 8.87 Involved in complement activation, classical pathway C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement system. The collagen-like regions of C1q interact with the Ca(2+)-dependent C1r(2)C1s(2) proenzyme complex, and efficient activation of C1 takes place on interaction of the globular heads of C1q with the Fc regions of IgG or IgM antibody present in immune complexes ["1-27"] ["None"] 1PK6 BC008983 14290438 C1QB Chromosome:1 1p36.12 C1QB HGNC:1242 true 2020-06-12T23:07:07Z 2020-07-28T02:33:51Z 0 0 0 2695 CDBP02694 Complement C1q subcomponent subunit C P02747 C1QC_HUMAN false false Enzyme Homo_sapiens C1QC 245 25773.6 8.58 Involved in complement activation, classical pathway C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement system. The collagen-like regions of C1q interact with the Ca(2+)-dependent C1r(2)C1s(2) proenzyme complex, and efficient activation of C1 takes place on interaction of the globular heads of C1q with the Fc regions of IgG or IgM antibody present in immune complexes ["1-28"] ["None"] 1PK6 AF087892 33150626 C1QC Chromosome:1 1p36.11 C1QC HGNC:1245 true 2020-06-12T23:07:07Z 2020-07-28T02:33:51Z 0 0 0 2696 CDBP02695 Complement C1r subcomponent P00736 C1R_HUMAN false false Metal Binding Homo_sapiens C1R 705 80118.0 6.14 Involved in calcium ion binding C1r B chain is a serine protease that combines with C1q and C1s to form C1, the first component of the classical pathway of the complement system ["1-17"] ["None"] 1GPZ M14058 179644 C1R Chromosome:1 12p13 C1R HGNC:1246 true 2020-06-12T23:07:07Z 2020-07-28T02:31:59Z 0 1 0 2697 CDBP02696 Complement C1s subcomponent precursor P09871 C1S_HUMAN false false Enzyme Homo_sapiens C1S 688 76685.0 4.59 C1s B chain is a serine protease that combines with C1q and C1s to form C1, the first component of the classical pathway of the complement system. C1r activates C1s so that it can, in turn, activate C2 and C4 ["1-15"] ["None"] 1ELV X06596 763110 P09871 Chromosome:12 12p13 C1S HGNC:1247 true 2020-06-12T23:07:07Z 2020-07-28T02:33:51Z 0 0 0 2698 CDBP02697 Coiled-coil and C2 domain-containing protein 1A Q6P1N0 C2D1A_HUMAN false false Enzyme Homo_sapiens CC2D1A 951 104061.5 8.26 Lipid transport and metabolism Transcription factor that binds specifically to the FRE (five repressor element) and represses HTR1A gene transcription in neuronal cells. The combination of calcium and ATP specifically inactivates the binding with FRE. May play a role in the altered regulation of HTR1A associated with anxiety and major depression. Mediates HDAC-independent repression of HTR1A promoter in neuronal cell ["None"] ["None"] AB097002 31455459 CC2D1A Chromosome:1 19p13.12 true 2020-06-12T23:07:07Z 2020-07-28T02:33:51Z 0 0 0 2699 CDBP02698 C5a anaphylatoxin chemotactic receptor P21730 C5AR_HUMAN false false Receptor Homo_sapiens C5AR1 350 39320.0 9.23 Involved in G-protein coupled receptor protein signaling pathway Receptor for the chemotactic and inflammatory peptide anaphylatoxin C5a. This receptor stimulates chemotaxis, granule enzyme release and superoxide anion production ["None"] ["38-60", "72-94", "111-132", "154-174", "201-226", "243-265", "283-303"] NM_001736.3 4502509 C5AR1 Chromosome:1 19q13.3-q13.4 C5AR1 HGNC:1338 true 2020-06-12T23:07:07Z 2020-07-28T02:28:04Z 1 0 0 2700 CDBP02699 Voltage-dependent calcium channel subunit alpha-2/delta-1 P54289 CA2D1_HUMAN false false Enzyme Homo_sapiens CACNA2D1 1103 124566.9 4.89 Involved in metal ion binding The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Plays an important role in excitation-contraction coupling ["1-24"] ["1074-1094"] 54112390 CACNA2D1 Chromosome:7 7q21-q22 CACNA2D1 HGNC:1399 true 2020-06-12T23:07:07Z 2020-07-28T02:33:51Z 0 0 0 2701 CDBP02700 Voltage-dependent calcium channel subunit alpha-2/delta-2 Q9NY47 CA2D2_HUMAN false false Enzyme Homo_sapiens CACNA2D2 1150 129875.2 5.62 Involved in calcium channel activity The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Acts as a regulatory subunit for P/Q-type calcium channel (CACNA1A), N-type (CACNA1B), L-type (CACNA1C OR CACNA1D) and possibly T-type (CACNA1G). Overexpression induces apoptosis ["1-18"] ["1114-1134"] NM_001174051.1 291290994 CACNA2D2 Chromosome:3 3p21.3 CACNA2D2 HGNC:1400 true 2020-06-12T23:07:07Z 2020-07-28T02:33:51Z 0 0 0 2702 CDBP02701 Voltage-dependent calcium channel subunit alpha-2/delta-3 Q8IZS8 CA2D3_HUMAN false false Enzyme Homo_sapiens CACNA2D3 1091 123010.2 5.54 Involved in metal ion binding The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Acts as a regulatory subunit for P/Q-type calcium channel (CACNA1A), N-type (CACNA1B), L-type (CACNA1C OR CACNA1D) but not T-type (CACNA1G) ["1-28"] ["1069-1089"] AF516696 22770596 CACNA2D3 Chromosome:3 3p21.1 CACNA2D3 HGNC:15460 true 2020-06-12T23:07:07Z 2020-07-28T02:33:52Z 0 0 0 2703 CDBP02702 Voltage-dependent calcium channel subunit alpha-2/delta-4 Q7Z3S7 CA2D4_HUMAN false false Enzyme Homo_sapiens CACNA2D4 1137 127936.9 4.99 Involved in calcium channel activity The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel ["1-19"] ["1116-1136"] NM_172364.4 132566536 CACNA2D4 Chromosome:1 12p13.33 CACNA2D4 HGNC:20202 true 2020-06-12T23:07:07Z 2020-07-28T02:33:52Z 0 0 0 2704 CDBP02703 45 kDa calcium-binding protein Q9BRK5 CAB45_HUMAN false false Metal Binding Homo_sapiens SDF4 362 41806.5 4.49 Involved in calcium ion binding Isoform 5 may be involved in the exocytosis of zymogens by pancreatic acini ["1-36"] ["None"] NM_016176.3 18699732 SDF4 Chromosome:1 1p36.33 true 2020-06-12T23:07:07Z 2020-07-28T02:31:59Z 0 1 0 2705 CDBP02704 Calcineurin-binding protein cabin-1 Q9Y6J0 CABIN_HUMAN false false Enzyme Homo_sapiens CABIN1 2220 246349.5 5.9 Involved in binding May be required for replication-independent chromatin assembly. May serve as a negative regulator of T-cell receptor (TCR) signaling via inhibition of calcineurin. Inhibition of activated calcineurin is dependent on both PKC and calcium signals ["None"] ["None"] 1N6J NM_012295.2 6912458 CABIN1 Chromosome:2 22q11.23 CABIN1 HGNC:24187 true 2020-06-12T23:07:07Z 2020-07-28T02:33:52Z 0 0 0 2706 CDBP02705 Calcium-binding tyrosine phosphorylation-regulated protein O75952 CABYR_HUMAN false false Enzyme Homo_sapiens CABYR 493 52773.6 4.2 Involved in cAMP-dependent protein kinase regulator activity May function as a regulator of both motility- and head- associated functions such as capacitation and the acrosome reaction. Isoform 1 binds calcium in vitro. Isoform 2 and isoform 6 probably bind calcium. Isoform 3 and isoform 5 do not bind calcium in vitro. Isoform 4 probably does not bind calcium ["None"] ["None"] AF088868 3599530 CABYR Chromosome:1 18q11.2 CABYR HGNC:15569 true 2020-06-12T23:07:07Z 2020-07-28T02:33:52Z 0 0 0 2707 CDBP02706 Voltage-dependent P/Q-type calcium channel subunit alpha-1A O00555 CAC1A_HUMAN false true Transporter Homo_sapiens CACNA1A 2505 282362.4 9.1 Involved in ion channel activity Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1A gives rise to P and/or Q-type calcium currents. P/Q-type calcium channels belong to the 'high-voltage activated' (HVA) group and are blocked by the funnel toxin (Ftx) and by the omega-agatoxin- IVA (omega-Aga-IVA). They are however insensitive to dihydropyridines (DHP), and omega-conotoxin-GVIA (omega-CTx-GVIA) ["None"] ["99-117", "136-155", "168-185", "191-209", "229-248", "336-360", "488-506", "522-541", "550-568", "579-597", "617-636", "690-714", "1243-1261", "1278-1297", "1310-1328", "1340-1358", "1378-1397", "1485-1509", "1565-1593", "1599-1618", "1627-1645", "1653-1671", "1691-1710", "1783-1807"] U79666 2281752 CACNA1A Chromosome:1 19p13 CACNA1A HGNC:1388 true 2020-06-12T23:07:07Z 2020-07-28T02:32:10Z 0 0 0 2708 CDBP02707 Voltage-dependent N-type calcium channel subunit alpha-1B Q00975 CAC1B_HUMAN false true Transporter Homo_sapiens CACNA1B 2339 262493.8 8.62 Involved in ion channel activity Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1B gives rise to N-type calcium currents. N-type calcium channels belong to the 'high-voltage activated' (HVA) group and are blocked by omega-conotoxin-GVIA (omega-CTx-GVIA) and by omega-agatoxin- IIIA (omega-Aga-IIIA). They are however insensitive to dihydropyridines (DHP), and omega-agatoxin-IVA (omega-Aga-IVA). Calcium channels containing alpha-1B subunit may play a role in directed migration of immature neurons ["None"] ["96-114", "133-152", "164-183", "188-206", "226-245", "332-356", "483-501", "517-536", "545-562", "574-592", "612-631", "685-709", "1152-1169", "1186-1205", "1218-1236", "1247-1265", "1285-1304", "1392-1416", "1472-1490", "1506-1525", "1534-1552", "1564-1582", "1602-1621", "1684-1708"] M94172 CACNA1B Chromosome:9 9q34 CACNA1B HGNC:1389 true 2020-06-12T23:07:07Z 2020-07-28T02:32:10Z 0 0 0 2709 CDBP02708 Voltage-dependent R-type calcium channel subunit alpha-1E Q15878 CAC1E_HUMAN false true Transporter Homo_sapiens CACNA1E 2313 261729.0 8.31 Involved in ion channel activity Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1E gives rise to R-type calcium currents. R-type calcium channels belong to the 'high-voltage activated' (HVA) group and are blocked by nickel, and partially by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to dihydropyridines (DHP), omega- conotoxin-GVIA (omega-CTx-GVIA), and omega-agatoxin-IVA (omega- Aga-IVA). Calcium channels contaning alpha-1E subunit could be involved in the modulation of firing patterns of neurons which is important for information processing ["None"] ["90-108", "128-146", "159-173", "186-205", "224-244", "327-350", "477-496", "510-529", "539-557", "568-586", "606-625", "679-703", "1149-1165", "1190-1209", "1218-1240", "1255-1272", "1292-1311", "1399-1422", "1480-1498", "1514-1533", "1542-1560", "1572-1590", "1610-1629", "1699-1724"] AL160059 55957828 CACNA1E Chromosome:1 1q25-q31 CACNA1E HGNC:1392 true 2020-06-12T23:07:07Z 2020-07-28T02:32:10Z 0 0 0 2710 CDBP02709 Voltage-dependent L-type calcium channel subunit alpha-1F O60840 CAC1F_HUMAN false true Transporter Homo_sapiens CACNA1F 1977 220675.9 6.0 Involved in ion channel activity Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1F gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin- GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA) ["None"] ["93-111", "130-149", "162-180", "202-220", "240-259", "348-372", "530-549", "565-583", "592-610", "621-639", "659-679", "734-758", "872-890", "907-926", "939-957", "964-983", "1003-1022", "1113-1133", "1191-1209", "1225-1244", "1252-1273", "1291-1310", "1330-1349", "1417-1441"] 1VYT NM_005183.2 53832007 CACNA1F CACNA1F HGNC:1393 true 2020-06-12T23:07:07Z 2020-07-28T02:32:10Z 0 0 0 2711 CDBP02710 Voltage-dependent T-type calcium channel subunit alpha-1G O43497 CAC1G_HUMAN false true Transporter Homo_sapiens CACNA1G 2377 262468.6 6.57 Involved in ion channel activity Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1G gives rise to T-type calcium currents. T-type calcium channels belong to the "low-voltage activated (LVA)" group and are strongly blocked by mibefradil. A particularity of this type of channels is an opening at quite negative potentials and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes ["None"] ["81-101", "120-141", "151-170", "176-193", "214-234", "371-395", "744-764", "778-799", "806-824", "833-856", "868-888", "940-964", "1273-1295", "1314-1334", "1345-1364", "1379-1400", "1411-1434", "1512-1537", "1611-1631", "1646-1667", "1675-1693", "1708-1731", "1746-1766", "1827-1854"] AF134986 6625659 CACNA1G Chromosome:1 17q22 CACNA1G HGNC:1394 true 2020-06-12T23:07:07Z 2020-07-28T02:32:10Z 0 0 0 2712 CDBP02711 Voltage-dependent T-type calcium channel subunit alpha-1H O95180 CAC1H_HUMAN false true Transporter Homo_sapiens CACNA1H 2353 259160.2 7.38 Involved in ion channel activity Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1H gives rise to T-type calcium currents. T-type calcium channels belong to the "low-voltage activated (LVA)" group and are strongly blocked by nickel and mibefradil. A particularity of this type of channels is an opening at quite negative potentials, and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes ["None"] ["101-119", "140-160", "170-184", "194-212", "233-253", "395-419", "794-814", "828-849", "856-874", "883-906", "918-938", "991-1015", "1291-1313", "1332-1352", "1363-1382", "1397-1418", "1429-1452", "1530-1555", "1617-1637", "1652-1673", "1681-1699", "1714-1737", "1752-1772", "1836-1863"] AF051946 14670397 CACNA1H Chromosome:1 16p13.3 CACNA1H HGNC:1395 true 2020-06-12T23:07:07Z 2020-07-28T02:32:10Z 0 0 0 2713 CDBP02712 Voltage-dependent T-type calcium channel subunit alpha-1I Q9P0X4 CAC1I_HUMAN false true Transporter Homo_sapiens CACNA1I 2223 245100.8 6.52 Involved in ion channel activity Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. Isoform alpha-1I gives rise to T-type calcium currents. T-type calcium channels belong to the "low-voltage activated (LVA)" group and are strongly blocked by nickel and mibefradil. A particularity of this type of channels is an opening at quite negative potentials, and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes. Gates in voltage ranges similar to, but higher than alpha 1G or alpha 1H ["None"] ["79-99", "121-141", "149-168", "174-191", "212-232", "378-398", "641-661", "677-697", "703-721", "730-753", "765-785", "842-862", "1167-1187", "1210-1230", "1245-1265", "1273-1294", "1305-1325", "1411-1431", "1486-1506", "1523-1543", "1557-1577", "1584-1607", "1622-1642", "1710-1730"] NM_021096.3 21361077 CACNA1I Chromosome:2 22q13.1 CACNA1I HGNC:1396 true 2020-06-12T23:07:07Z 2020-07-28T02:32:10Z 0 0 0 2714 CDBP02713 Voltage-dependent L-type calcium channel subunit alpha-1S Q13698 CAC1S_HUMAN false true Transporter Homo_sapiens CACNA1S 1873 212348.1 6.54 Involved in ion channel activity Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1S gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin- GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA). Calcium channels containing the alpha-1S subunit play an important role in excitation-contraction coupling in skeletal muscle ["None"] ["52-70", "89-108", "121-139", "161-179", "199-218", "310-334", "433-451", "467-486", "495-513", "524-542", "562-581", "637-661", "800-818", "835-854", "867-885", "893-911", "931-950", "1041-1065", "1119-1137", "1153-1172", "1181-1199", "1232-1250", "1270-1289", "1357-1381"] AL139159 56204406 CACNA1S Chromosome:1 1q32 CACNA1S HGNC:1397 true 2020-06-12T23:07:07Z 2020-07-28T02:32:10Z 0 0 0 2715 CDBP02714 Voltage-dependent L-type calcium channel subunit beta-1 Q02641 CACB1_HUMAN false true Transporter Homo_sapiens CACNB1 598 65713.0 6.75 Involved in voltage-gated calcium channel activity The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting ["None"] ["None"] AB054985 12483680 CACNB1 Chromosome:1 17q21-q22 CACNB1 HGNC:1401 true 2020-06-12T23:07:07Z 2020-07-28T02:32:10Z 0 0 0 2716 CDBP02715 Voltage-dependent L-type calcium channel subunit beta-2 Q08289 CACB2_HUMAN false true Transporter Homo_sapiens CACNB2 660 73579.9 8.26 Involved in voltage-gated calcium channel activity The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting ["None"] ["None"] AF137376 4928801 CACNB2 Chromosome:1 10p12 CACNB2 HGNC:1402 true 2020-06-12T23:07:07Z 2020-07-28T02:32:11Z 0 0 0 2717 CDBP02716 Voltage-dependent L-type calcium channel subunit beta-3 P54284 CACB3_HUMAN false true Transporter Homo_sapiens CACNB3 484 54531.4 6.31 Involved in voltage-gated calcium channel activity The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting ["None"] ["None"] 1VYT X76555 435135 CACNB3 Chromosome:1 12q13 CACNB3 HGNC:1403 true 2020-06-12T23:07:07Z 2020-07-28T02:32:11Z 0 0 0 2718 CDBP02717 Voltage-dependent L-type calcium channel subunit beta-4 O00305 CACB4_HUMAN false true Transporter Homo_sapiens CACNB4 520 58168.6 9.77 Involved in voltage-gated calcium channel activity The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting ["None"] ["None"] 1VYV NM_000726.3 54607064 CACNB4 Chromosome:2 2q22-q23 CACNB4 HGNC:1404 true 2020-06-12T23:07:07Z 2020-07-28T02:32:11Z 0 0 0 2719 CDBP02718 Calcium-binding and coiled-coil domain-containing protein 1 Q9P1Z2 CACO1_HUMAN false false Enzyme Homo_sapiens CALCOCO1 691 77335.6 4.47 Replication, recombination and repair Seems to enhance inorganic pyrphosphatase thus activating phosphogluomutase (PMG). Probably functions as component of the calphoglin complex, which is involved in linking cellular metabolism (phosphate and glucose metabolism) with other core functions including protein synthesis and degradation, calcium signaling and cell growth ["None"] ["None"] NM_020898.2 14149742 CALCOCO1 Chromosome:1 12q13.13 CALCOCO1 HGNC:29306 true 2020-06-12T23:07:07Z 2020-07-28T02:33:52Z 0 0 0 2720 CDBP02719 Cadherin-10 Q9Y6N8 CAD10_HUMAN false false Metal Binding Homo_sapiens CDH10 788 88450.4 4.59 Involved in calcium ion binding Cadherins are calcium dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types ["1-22"] ["614-634"] AB035303 6483303 CDH10 Chromosome:5 5p14.2 CDH10 HGNC:1749 true 2020-06-12T23:07:07Z 2020-07-28T02:31:59Z 0 1 0 2721 CDBP02720 Cadherin-11 P55287 CAD11_HUMAN false false Metal Binding Homo_sapiens CDH11 796 87964.5 4.51 Involved in calcium ion binding Cadherins are calcium dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types ["1-22"] ["618-640"] NM_001797.2 16306532 CDH11 Chromosome:1 16q22.1 CDH11 HGNC:1750 true 2020-06-12T23:07:07Z 2020-07-28T02:31:59Z 0 1 0 2722 CDBP02721 Cadherin-12 P55289 CAD12_HUMAN false false Metal Binding Homo_sapiens CDH12 794 88331.5 4.4 Involved in calcium ion binding Cadherins are calcium dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types ["1-23"] ["610-637"] AK314800 189054555 CDH12 Chromosome:5 5p14.3 CDH12 HGNC:1751 true 2020-06-12T23:07:07Z 2020-07-28T02:31:59Z 0 1 0 2723 CDBP02722 Cadherin-13 P55290 CAD13_HUMAN false false Metal Binding Homo_sapiens CDH13 713 78286.2 4.57 Involved in calcium ion binding Cadherins are calcium dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. May act as a negative regulator of neural cell growth ["1-22"] ["None"] AB001103 3434957 CDH13 Chromosome:1 16q23.3 CDH13 HGNC:1753 true 2020-06-12T23:07:07Z 2020-07-28T02:31:59Z 0 1 0 2724 CDBP02723 Cadherin-16 O75309 CAD16_HUMAN false false Metal Binding Homo_sapiens CDH16 829 89922.3 4.58 Involved in calcium ion binding Cadherins are calcium dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types ["1-18"] ["787-807"] AF016272 3523101 CDH16 Chromosome:1 16q22.1 CDH16 HGNC:1755 true 2020-06-12T23:07:07Z 2020-07-28T02:31:59Z 0 1 0 2725 CDBP02724 Cadherin-17 Q12864 CAD17_HUMAN false false Metal Binding Homo_sapiens CDH17 832 92218.6 4.75 Involved in calcium ion binding Cadherins are calcium dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. LI-cadherin may have a role in the morphological organization of liver and intestine. Involved in intestinal peptide transport ["1-22"] ["788-808"] NM_001144663.1 221316595 CDH17 Chromosome:8 8q22.1 true 2020-06-12T23:07:07Z 2020-07-28T02:31:59Z 0 1 0 2726 CDBP02725 Cadherin-18 Q13634 CAD18_HUMAN false false Metal Binding Homo_sapiens CDH18 790 88071.9 4.76 Involved in calcium ion binding Cadherins are calcium dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types ["1-24"] ["609-636"] AK289547 158260117 CDH18 Chromosome:5 5p14.3 CDH18 HGNC:1757 true 2020-06-12T23:07:07Z 2020-07-28T02:31:59Z 0 1 0 2727 CDBP02726 Cadherin-19 Q9H159 CAD19_HUMAN false false Metal Binding Homo_sapiens CDH19 772 87001.6 4.35 Involved in calcium ion binding Cadherins are calcium dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types ["1-21"] ["597-617"] AJ007607 10803406 CDH19 Chromosome:1 18q22.1 CDH19 HGNC:1758 true 2020-06-12T23:07:07Z 2020-07-28T02:31:59Z 0 1 0 2728 CDBP02727 Cadherin-20 Q9HBT6 CAD20_HUMAN false false Metal Binding Homo_sapiens CDH20 801 88992.0 4.3 Involved in calcium ion binding Cadherins are calcium dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types ["1-34"] ["620-640"] AF217289 10834607 CDH20 Chromosome:1 18q21.33 CDH20 HGNC:1760 true 2020-06-12T23:07:07Z 2020-07-28T02:31:59Z 0 1 0 2729 CDBP02728 Cadherin-22 Q9UJ99 CAD22_HUMAN false false Metal Binding Homo_sapiens CDH22 828 89090.3 4.39 Involved in calcium ion binding Cadherins are calcium dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. PB-cadherins may have a role in the morphological organization of pituitary gland and brain tissues ["1-34"] ["625-645"] NM_021248.1 16753221 CDH22 Chromosome:2 20q13.1 CDH22 HGNC:13251 true 2020-06-12T23:07:07Z 2020-07-28T02:31:59Z 0 1 0 2730 CDBP02729 Cadherin-23 Q9H251 CAD23_HUMAN false false Metal Binding Homo_sapiens CDH23 3354 369521.4 4.26 Involved in calcium ion binding Cadherins are calcium dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. Cadherin 23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development ["1-23"] ["3065-3085"] NM_022124.5 189571674 CDH23 Chromosome:1 10q22.1 CDH23 HGNC:13733 true 2020-06-12T23:07:07Z 2020-07-28T02:31:59Z 0 1 0 2731 CDBP02730 Cadherin-24 Q86UP0 CAD24_HUMAN false false Metal Binding Homo_sapiens CDH24 819 87751.5 4.4 Involved in calcium ion binding Cadherins are calcium dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. Cadherin-24 mediate strong cell-cell adhesion ["1-19"] ["642-662"] NM_022478.3 32880206 CDH24 Chromosome:1 14q11.2 CDH24 HGNC:14265 true 2020-06-12T23:07:07Z 2020-07-28T02:31:59Z 0 1 0 2732 CDBP02731 Cadherin-like protein 26 Q8IXH8 CAD26_HUMAN false false Metal Binding Homo_sapiens CDH26 852 95277.1 5.78 Involved in calcium ion binding Cadherins are calcium dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types ["1-26"] ["615-635"] 29570800 CDH26 Chromosome:2 20q13.33 CDH26 HGNC:15902 true 2020-06-12T23:07:07Z 2020-07-28T02:31:59Z 0 1 0 2733 CDBP02732 Cadherin-related family member 3 Q6ZTQ4 CDHR3_HUMAN false false Metal Binding Homo_sapiens CDHR3 885 97976.1 5.06 Involved in calcium ion binding Cadherins are calcium dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types ["1-19"] ["714-734"] NM_152750.4 40255133 CDHR3 Chromosome:7 7q22.3 CDHR3 HGNC:26308 true 2020-06-12T23:07:07Z 2020-07-28T02:31:59Z 0 1 0 2734 CDBP02733 Cadherin-2 P19022 CADH2_HUMAN false false Metal Binding Homo_sapiens CDH2 906 99808.4 4.4 Involved in alpha-catenin binding Cadherins are calcium dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. CDH2 may be involved in neuronal recognition mechanism ["1-25"] ["725-745"] BC036470 22209070 CDH2 Chromosome:1 18q11.2 true 2020-06-12T23:07:07Z 2020-07-28T02:31:59Z 0 1 0 2735 CDBP02734 Cadherin-3 P22223 CADH3_HUMAN false false Metal Binding Homo_sapiens CDH3 829 91417.7 4.35 Involved in calcium ion binding Cadherins are calcium dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types ["1-24"] ["655-677"] AK312554 189069113 CDH3 Chromosome:1 16q22.1 CDH3 HGNC:1762 true 2020-06-12T23:07:07Z 2020-07-28T02:31:59Z 0 1 0 2736 CDBP02735 Cadherin-4 P55283 CADH4_HUMAN false false Metal Binding Homo_sapiens CDH4 916 100279.7 4.41 Involved in calcium ion binding Cadherins are calcium dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. May play an important role in retinal development ["1-20"] ["735-756"] AL109911 56204141 CDH4 Chromosome:2 20q13.3 true 2020-06-12T23:07:07Z 2020-07-28T02:31:59Z 0 1 0 2737 CDBP02736 Cadherin-5 P33151 CADH5_HUMAN false false Metal Binding Homo_sapiens CDH5 784 87515.7 5.07 Involved in calcium ion binding Cadherins are calcium dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. This cadherin may play a important role in endothelial cell biology through control of the cohesion and organization of the intercellular junctions. It associates with alpha-catenin forming a link to the cytoskeleton ["1-25"] ["600-620"] X79981 599834 CDH5 Chromosome:1 16q22.1 CDH5 HGNC:1764 true 2020-06-12T23:07:07Z 2020-07-28T02:31:59Z 0 1 0 2738 CDBP02737 Cadherin-6 P55285 CADH6_HUMAN false false Metal Binding Homo_sapiens CDH6 790 88307.8 4.53 Involved in calcium ion binding Cadherins are calcium dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types ["1-18"] ["616-636"] AK291290 158256016 CDH6 Chromosome:5 5p13.3 CDH6 HGNC:1765 true 2020-06-12T23:07:07Z 2020-07-28T02:31:59Z 0 1 0 2739 CDBP02738 Cadherin-7 Q9ULB5 CADH7_HUMAN false false Metal Binding Homo_sapiens CDH7 785 87085.5 4.39 Involved in calcium ion binding Cadherins are calcium dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types ["1-27"] ["608-628"] AB035301 6483290 CDH7 Chromosome:1 18q22.1 true 2020-06-12T23:07:07Z 2020-07-28T02:31:59Z 0 1 0 2740 CDBP02739 Cadherin-8 P55286 CADH8_HUMAN false false Metal Binding Homo_sapiens CDH8 799 88252.4 4.3 Involved in calcium ion binding Cadherins are calcium dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types ["1-29"] ["622-642"] AB035305 6483315 CDH8 Chromosome:1 16q22.1 CDH8 HGNC:1767 true 2020-06-12T23:07:07Z 2020-07-28T02:31:59Z 0 1 0 2741 CDBP02740 Cadherin-9 Q9ULB4 CADH9_HUMAN false false Metal Binding Homo_sapiens CDH9 789 88688.6 4.49 Involved in calcium ion binding Cadherins are calcium dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types ["1-21"] ["616-636"] AB035302 6483296 CDH9 Chromosome:5 5p14 true 2020-06-12T23:07:07Z 2020-07-28T02:31:59Z 0 1 0 2742 CDBP02741 Cadherin-related family member 4 A6H8M9 CDHR4_HUMAN false false Metal Binding Homo_sapiens CDHR4 788 85826.6 5.13 Involved in calcium ion binding Cadherins are calcium dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types ["1-16"] ["687-707"] NM_001007540.2 203097724 CDHR4 Chromosome:3 3p21.31 CDHR4 HGNC:34527 true 2020-06-12T23:07:07Z 2020-07-28T02:31:59Z 0 1 0 2743 CDBP02742 Cell adhesion molecule 3 Q8N126 CADM3_HUMAN false false Enzyme Homo_sapiens CADM3 398 43299.5 6.0 Involved in protein homodimerization activity Involved in the cell-cell adhesion. Has both calcium- independent homophilic cell-cell adhesion activity and calcium- independent heterophilic cell-cell adhesion activity with IGSF4, PVRL1 and PVRL3. Interaction with EPB41L1 may regulate structure or function of cell-cell junctions ["1-24"] ["331-351"] NM_001127173.1 187608363 CADM3 Chromosome:1 1q21.2-q22 true 2020-06-12T23:07:07Z 2020-07-28T02:33:52Z 0 0 0 2744 CDBP02743 Cell adhesion molecule 4 Q8NFZ8 CADM4_HUMAN false false Enzyme Homo_sapiens CADM4 388 42785.0 6.25 Involved in cell adhesion Involved in the cell-cell adhesion. Has calcium- and magnesium-independent cell-cell adhesion activity. May have tumor- suppressor activity ["1-20"] ["325-345"] AF363368 21518639 CADM4 Chromosome:1 19q13.31 CADM4 HGNC:30825 true 2020-06-12T23:07:07Z 2020-07-28T02:33:52Z 0 0 0 2745 CDBP02744 VWFA and cache domain-containing protein 1 Q5VU97 CAHD1_HUMAN false false Enzyme Homo_sapiens CACHD1 1274 142288.4 6.4 Cell motility May regulate voltage-dependent calcium channels ["1-35"] ["1096-1116"] 110578649 CACHD1 Chromosome:1 1p31.3 CACHD1 HGNC:29314 true 2020-06-12T23:07:07Z 2020-07-28T02:33:52Z 0 0 0 2746 CDBP02745 Calcitonin P01258 CALC_HUMAN false false Receptor Homo_sapiens CALCA 141 15467.3 6.1 Involved in hormone activity Katacalcin is a potent plasma calcium-lowering peptide ["1-25"] ["None"] NM_001033952.2 76880484 CALCA Chromosome:1 11p15.2 CALCA HGNC:1437 true 2020-06-12T23:07:07Z 2020-07-28T02:32:18Z 1 0 0 2747 CDBP02746 Calmodulin-like protein 5 Q9NZT1 CALL5_HUMAN false false Metal Binding Homo_sapiens CALML5 146 15892.4 4.05 Involved in calcium ion binding Binds calcium. May be involved in terminal differentiation of keratinocytes ["None"] ["None"] AF172852 7673316 CALML5 Chromosome:1 10p15.1 CALML5 HGNC:18180 true 2020-06-12T23:07:07Z 2020-07-28T02:31:59Z 0 1 0 2748 CDBP02747 Calreticulin-3 Q96L12 CALR3_HUMAN false false Metal Binding Homo_sapiens CALR3 384 44995.3 6.64 Involved in calcium ion binding Molecular calcium-binding chaperone promoting folding, oligomeric assembly and quality control in the ER via the calreticulin/calnexin cycle. This lectin may interact transiently with almost all of the monoglucosylated glycoproteins that are synthesized in the ER ["1-19"] ["None"] AK058084 16554107 CALR3 Chromosome:1 19p13.11 CALR3 HGNC:20407 true 2020-06-12T23:07:07Z 2020-07-28T02:31:59Z 0 1 0 2749 CDBP02748 Calreticulin P27797 CALR_HUMAN false false Metal Binding Homo_sapiens CALR 417 48141.2 4.04 Involved in calcium ion binding Molecular calcium-binding chaperone promoting folding, oligomeric assembly and quality control in the ER via the calreticulin/calnexin cycle. This lectin interacts transiently with almost all of the monoglucosylated glycoproteins that are synthesized in the ER. Interacts with the DNA-binding domain of NR3C1 and mediates its nuclear export ["1-17"] ["None"] M32294 CALR Chromosome:1 19p13.3-p13.2 CALR HGNC:1455 true 2020-06-12T23:07:07Z 2020-07-28T02:31:59Z 0 1 0 2750 CDBP02749 Calumenin O43852 CALU_HUMAN false false Metal Binding Homo_sapiens CALU 315 37106.5 4.23 Involved in calcium ion binding Involved in regulation of vitamin K-dependent carboxylation of multiple amino-terminal glutamate residues. Seems to inhibit gamma-carboxylase GGCX. Binds 7 calcium ions with a low affinity ["1-19"] ["None"] AF013759 3153209 CALU Chromosome:7 7q32.1 CALU HGNC:1458 true 2020-06-12T23:07:07Z 2020-07-28T02:31:59Z 0 1 0 2751 CDBP02750 Calnexin P27824 CALX_HUMAN false false Metal Binding Homo_sapiens CANX 592 67567.7 4.21 Involved in calcium ion binding Calcium-binding protein that interacts with newly synthesized glycoproteins in the endoplasmic reticulum. It may act in assisting protein assembly and/or in the retention within the ER of unassembled protein subunits. It seems to play a major role in the quality control apparatus of the ER by the retention of incorrectly folded proteins ["1-20"] ["482-502"] 1JHN L10284 CANX Chromosome:5 5q35 CANX HGNC:1473 true 2020-06-12T23:07:07Z 2020-07-28T02:31:59Z 0 1 0 2752 CDBP02751 Neuron-specific vesicular protein calcyon Q9NYX4 CALY_HUMAN false false Receptor Homo_sapiens CALY 217 23433.5 6.91 Involved in dopamine receptor binding Interacts with clathrin light chain A and stimulates clathrin self-assembly and clathrin-mediated endocytosis ["None"] ["88-108"] AF225903 CALY Chromosome:1 10q26.3 CALY HGNC:17938 true 2020-06-12T23:07:07Z 2020-07-28T02:32:18Z 1 0 0 2753 CDBP02752 CaM kinase-like vesicle-associated protein Q8NCB2 CAMKV_HUMAN true false Enzyme Homo_sapiens CAMKV 501 54353.2 5.21 Involved in protein kinase activity Does not appear to have detectable kinase activity ["None"] ["None"] NM_024046.3 83776596 CAMKV Chromosome:3 3p21.31 CAMKV HGNC:28788 true 2020-06-12T23:07:07Z 2020-07-28T02:28:07Z 0 0 0 2754 CDBP02753 Calcium signal-modulating cyclophilin ligand P49069 CAMLG_HUMAN false false Enzyme Homo_sapiens CAMLG 296 32952.3 8.19 Involved in defense response Likely involved in the mobilization of calcium as a result of the TCR/CD3 complex interaction. Binds to cyclophilin B ["None"] ["190-210", "241-257"] U18242 619670 CAMLG Chromosome:5 5q23 CAMLG HGNC:1471 true 2020-06-12T23:07:07Z 2020-07-28T02:33:52Z 0 0 0 2755 CDBP02754 Calpain-10 Q9HC96 CAN10_HUMAN false false Enzyme Homo_sapiens CAPN10 672 74937.8 7.78 Involved in calcium-dependent cysteine-type endopeptidase activity Calcium-regulated non-lysosomal thiol-protease which catalyze limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction ["None"] ["None"] NM_023083.3 13186302 CAPN10 Chromosome:2 2q37.3 CAPN10 HGNC:1477 true 2020-06-12T23:07:07Z 2020-07-28T02:33:52Z 0 0 0 2756 CDBP02755 Calpain-11 Q9UMQ6 CAN11_HUMAN false false Metal Binding Homo_sapiens CAPN11 739 84422.2 5.3 Involved in calcium-dependent cysteine-type endopeptidase activity Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction ["None"] ["None"] NM_007058.3 215490104 CAPN11 Chromosome:6 6p12 CAPN11 HGNC:1478 true 2020-06-12T23:07:07Z 2020-07-28T02:32:00Z 0 1 0 2757 CDBP02756 Calpain-12 Q6ZSI9 CAN12_HUMAN false false Metal Binding Homo_sapiens CAPN12 719 81036.2 6.34 Involved in calcium-dependent cysteine-type endopeptidase activity Calcium-regulated non-lysosomal thiol-protease ["None"] ["None"] AK127398 34534289 CAPN12 Chromosome:1 19q13.2 CAPN12 HGNC:13249 true 2020-06-12T23:07:07Z 2020-07-28T02:32:00Z 0 1 0 2758 CDBP02757 Calpain-13 Q6MZZ7 CAN13_HUMAN false false Metal Binding Homo_sapiens CAPN13 669 76695.9 7.41 Involved in calcium-dependent cysteine-type endopeptidase activity Probable non-lysosomal thiol-protease ["None"] ["None"] NM_144575.2 41152101 CAPN13 Chromosome:2 2p22-p21 CAPN13 HGNC:16663 true 2020-06-12T23:07:07Z 2020-07-28T02:32:00Z 0 1 0 2759 CDBP02758 Calpain-14 A8MX76 CAN14_HUMAN false false Metal Binding Homo_sapiens CAPN14 684 79567.1 8.78 Involved in calcium-dependent cysteine-type endopeptidase activity Calcium-regulated non-lysosomal thiol-protease ["None"] ["None"] NM_001145122.1 223468608 CAPN14 Chromosome:2 2p23.1-p21 CAPN14 HGNC:16664 true 2020-06-12T23:07:07Z 2020-07-28T02:32:00Z 0 1 0 2760 CDBP02759 Calpain-1 catalytic subunit P07384 CAN1_HUMAN false false Metal Binding Homo_sapiens CAPN1 714 81889.3 5.35 Involved in calcium-dependent cysteine-type endopeptidase activity Calcium-regulated non-lysosomal thiol-protease which catalyze limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction ["None"] ["None"] X04366 29664 CAPN1 Chromosome:1 11q13 CAPN1 HGNC:1476 true 2020-06-12T23:07:07Z 2020-07-28T02:32:00Z 0 1 0 2761 CDBP02760 Calpain-2 catalytic subunit P17655 CAN2_HUMAN false false Metal Binding Homo_sapiens CAPN2 700 80008.6 4.61 Involved in calcium-dependent cysteine-type endopeptidase activity Calcium-regulated non-lysosomal thiol-protease which catalyze limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction ["None"] ["None"] 1KFU NM_001748.4 157389005 CAPN2 Chromosome:1 1q41-q42 CAPN2 HGNC:1479 true 2020-06-12T23:07:07Z 2020-07-28T02:32:00Z 0 1 0 2762 CDBP02761 Calpain-3 P20807 CAN3_HUMAN false false Metal Binding Homo_sapiens CAPN3 821 94252.9 6.09 Involved in calcium-dependent cysteine-type endopeptidase activity Calcium-regulated non-lysosomal thiol-protease ["None"] ["None"] X85030 791040 CAPN3 Chromosome:1 15q15.1 CAPN3 HGNC:1480 true 2020-06-12T23:07:07Z 2020-07-28T02:32:00Z 0 1 0 2763 CDBP02762 Calpain-7 Q9Y6W3 CAN7_HUMAN false false Enzyme Homo_sapiens CAPN7 813 92651.6 7.72 Involved in calcium-dependent cysteine-type endopeptidase activity Calcium-regulated non-lysosomal thiol-protease ["None"] ["None"] AB028639 5102944 CAPN7 Chromosome:3 3p24 CAPN7 HGNC:1484 true 2020-06-12T23:07:07Z 2020-07-28T02:33:52Z 0 0 0 2764 CDBP02763 Calpain-8 A6NHC0 CAN8_HUMAN false false Metal Binding Homo_sapiens CAPN8 703 79143.8 4.86 Involved in calcium-dependent cysteine-type endopeptidase activity Calcium-regulated non-lysosomal thiol-protease. Involved in membrane trafficking in the gastric surface mucus cells (pit cells) and may involve the membrane trafficking of mucus cells via interactions with coat protein. Proteolytically cleaves the beta- subunit of coatomer complex ["None"] ["None"] NM_001143962.1 221554549 CAPN8 Chromosome:1 1q41 CAPN8 HGNC:1485 true 2020-06-12T23:07:07Z 2020-07-28T02:32:00Z 0 1 0 2765 CDBP02764 Calpain-9 O14815 CAN9_HUMAN false false Metal Binding Homo_sapiens CAPN9 690 79095.8 5.25 Involved in calcium-dependent cysteine-type endopeptidase activity Calcium-regulated non-lysosomal thiol-protease ["None"] ["None"] NM_006615.2 5729758 CAPN9 Chromosome:1 1q42.11-q42.3 CAPN9 HGNC:1486 true 2020-06-12T23:07:07Z 2020-07-28T02:32:00Z 0 1 0 2766 CDBP02765 Calcineurin subunit B type 1 P63098 CANB1_HUMAN false false Metal Binding Homo_sapiens PPP3R1 170 19299.8 4.4 Involved in calcium ion binding Regulatory subunit of calcineurin, a calcium-dependent, calmodulin stimulated protein phosphatase. Confers calcium sensitivity ["None"] ["None"] 1MF8 M30773 PPP3R1 Chromosome:2 2p15 PPP3R1 HGNC:9317 true 2020-06-12T23:07:07Z 2020-07-28T02:32:00Z 0 1 0 2767 CDBP02766 Calcineurin subunit B type 2 Q96LZ3 CANB2_HUMAN false false Metal Binding Homo_sapiens PPP3R2 170 19533.1 4.49 Involved in calcium ion binding Regulatory subunit of calcineurin, a calcium-dependent, calmodulin stimulated protein phosphatase. Confers calcium sensitivity ["None"] ["None"] AF145026 PPP3R2 Chromosome:9 9q31.1 PPP3R2 HGNC:9318 true 2020-06-12T23:07:07Z 2020-07-28T02:32:00Z 0 1 0 2768 CDBP02767 Macrophage-capping protein P40121 CAPG_HUMAN false false Enzyme Homo_sapiens CAPG 348 38517.3 6.18 Involved in actin binding Calcium-sensitive protein which reversibly blocks the barbed ends of actin filaments but does not sever preformed actin filaments. May play an important role in macrophage function. May play a role in regulating cytoplasmic and/or nuclear structures through potential interactions with actin. May bind DNA ["None"] ["None"] 1J72 AC062037 62988741 CAPG Chromosome:2 2p11.2 CAPG HGNC:1474 true 2020-06-12T23:07:07Z 2020-07-28T02:33:52Z 0 0 0 2769 CDBP02768 Calcium-dependent secretion activator 1 Q9ULU8 CAPS1_HUMAN false false Enzyme Homo_sapiens CADPS 1353 152785.4 5.44 Carbohydrate transport and metabolism Calcium-binding protein involved in exocytosis of vesicles filled with neurotransmitters and neuropeptides. Probably acts upstream of fusion in the biogenesis or maintenance of mature secretory vesicles. Regulates catecholamine loading of DCVs. May specifically mediate the Ca(2+)-dependent exocytosis of large dense-core vesicles (DCVs) and other dense-core vesicles by acting as a PtdIns(4,5)P2-binding protein that acts at prefusion step following ATP-dependent priming and participates in DCVs-membrane fusion. However, it may also participate in small clear synaptic vesicles (SVs) exocytosis and it is unclear whether its function is related to Ca(2+) triggering ["None"] ["None"] 1WI1 NM_003716.3 34452715 CADPS Chromosome:3 3p14.2 CADPS HGNC:1426 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2770 CDBP02769 Calcium-dependent secretion activator 2 Q86UW7 CAPS2_HUMAN false false Enzyme Homo_sapiens CADPS2 1296 147733.4 6.1 Involved in lipid binding Calcium-binding protein involved in exocytosis of vesicles filled with neurotransmitters and neuropeptides. Probably acts upstream of fusion in the biogenesis or maintenance of mature secretory vesicles. Regulates neurotrophin release from granule cells leading to regulate cell differentiation and survival during cerebellar development. May specifically mediate the Ca(2+)- dependent exocytosis of large dense-core vesicles (DCVs) and other dense-core vesicles ["None"] ["None"] NM_017954.10 148839294 CADPS2 Chromosome:7 7q31.3 CADPS2 HGNC:16018 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2771 CDBP02770 Calsequestrin-1 P31415 CASQ1_HUMAN false false Metal Binding Homo_sapiens CASQ1 390 44497.9 3.76 Involved in calcium ion binding Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle. The release of calcium bound to calsequestrin through a calcium release channel triggers muscle contraction. Binds 40 to 50 moles of calcium. Also binds laminin ["1-28"] ["None"] 1A8Y AK313250 189053808 CASQ1 Chromosome:1 1q21 CASQ1 HGNC:1512 true 2020-06-12T23:07:08Z 2020-07-28T02:32:00Z 0 1 0 2772 CDBP02771 Calsequestrin-2 O14958 CASQ2_HUMAN false false Metal Binding Homo_sapiens CASQ2 399 46435.3 3.97 Involved in calcium ion binding Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle. The release of calcium bound to calsequestrin through a calcium release channel triggers muscle contraction. Binds 40 to 50 moles of calcium ["1-19"] ["None"] 1SJI NM_001232 119395727 CASQ2 Chromosome:1 1p13.3-p11 CASQ2 HGNC:1513 true 2020-06-12T23:07:08Z 2020-07-28T02:32:00Z 0 1 0 2773 CDBP02772 Calcyphosin Q13938 CAYP1_HUMAN false false Metal Binding Homo_sapiens CAPS 189 20967.1 4.49 Involved in calcium ion binding Calcium-binding protein. May play a role in cellular signaling events (Potential) ["None"] ["None"] AC004602 3075376 CAPS Chromosome:1 19p13.3 CAPS HGNC:1487 true 2020-06-12T23:07:08Z 2020-07-28T02:32:00Z 0 1 0 2774 CDBP02773 E3 ubiquitin-protein ligase CBL P22681 CBL_HUMAN true false Enzyme Homo_sapiens CBL 906 99631.8 6.51 Involved in signal transducer activity Participates in signal transduction in hematopoietic cells. Adapter protein that functions as a negative regulator of many signaling pathways that start from receptors at the cell surface. Acts as an E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Recognizes activated receptor tyrosine kinases, including PDGFA, EGF and CSF1, and terminates signaling ["None"] ["None"] 1FBV BC132733 126522478 CBL Chromosome:1 11q23.3 CBL HGNC:1541 true 2020-06-12T23:07:08Z 2020-07-28T02:28:08Z 1 1 0 2775 CDBP02774 E3 ubiquitin-protein ligase CBL-B Q13191 CBLB_HUMAN true false Enzyme Homo_sapiens CBLB 982 109448.6 7.94 Involved in signal transducer activity E3 ubiquitin-protein ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and transfers it to substrates, generally promoting their degradation by the proteasome. Negatively regulates TCR (T-cell receptor), BCR (B- cell receptor) and FCER1 (high affinity immunoglobulin epsilon receptor) signal transduction pathways. In naive T-cells, inhibits VAV1 activation upon TCR engagement and imposes a requirement for CD28 costimulation for proliferation and IL-2 production. Also acts by promoting PIK3R1/p85 ubiquitination, which impairs its recruitment to the TCR and subsequent activation. In activated T- cells, inhibits PLCG1 activation and calcium mobilization upon restimulation and promotes anergy. In B-cells, acts by ubiquitinating SYK and promoting its proteasomal degradation. May also be involved in EGFR ubiquitination and internalization ["None"] ["None"] NM_170662.3 54112420 CBLB Chromosome:3 3q13.11 CBLB HGNC:1542 true 2020-06-12T23:07:08Z 2020-07-28T02:28:09Z 1 1 0 2776 CDBP02775 Signal transduction protein CBL-C Q9ULV8 CBLC_HUMAN false false Enzyme Homo_sapiens CBLC 474 52455.5 7.73 Involved in signal transducer activity Regulator of EGFR mediated signal transduction ["None"] ["None"] AB028645 6291532 CBLC Chromosome:1 19q13.2 CBLC HGNC:15961 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 1 1 0 2777 CDBP02776 Voltage-dependent calcium channel gamma-1 subunit Q06432 CCG1_HUMAN false true Transporter Homo_sapiens CACNG1 222 25028.1 7.1 Involved in voltage-gated calcium channel activity This protein is a subunit of the dihydropyridine (DHP) sensitive calcium channel. Plays a role in excitation-contraction coupling. The skeletal muscle DHP-sensitive Ca(2+) channel may function only as a multiple subunit complex ["None"] ["11-29", "105-129", "140-155", "180-204"] L07738 CACNG1 Chromosome:1 17q24 CACNG1 HGNC:1405 true 2020-06-12T23:07:08Z 2020-07-28T02:32:11Z 0 0 0 2778 CDBP02777 Voltage-dependent calcium channel gamma-2 subunit Q9Y698 CCG2_HUMAN false true Transporter Homo_sapiens CACNG2 323 35965.4 9.22 Involved in voltage-gated calcium channel activity Thought to stabilize the calcium channel in an inactivated (closed) state ["None"] ["10-30", "104-124", "134-154", "182-202"] AF096322 CACNG2 Chromosome:2 22q13.1 CACNG2 HGNC:1406 true 2020-06-12T23:07:08Z 2020-07-28T02:32:11Z 0 0 0 2779 CDBP02778 Voltage-dependent calcium channel gamma-3 subunit O60359 CCG3_HUMAN false false Enzyme Homo_sapiens CACNG3 315 35548.1 9.84 Involved in calcium ion transport Thought to stabilize the calcium channel in an inactivated (closed) state ["None"] ["8-28", "104-124", "135-155", "181-201"] AF100346 CACNG3 Chromosome:1 16p12.1 CACNG3 HGNC:1407 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2780 CDBP02779 Voltage-dependent calcium channel gamma-4 subunit Q9UBN1 CCG4_HUMAN false true Transporter Homo_sapiens CACNG4 327 36578.4 9.35 Involved in voltage-gated calcium channel activity Thought to stabilize the calcium channel in an inactivated (closed) state ["None"] ["10-30", "108-128", "137-157", "187-207"] AF162692 6502990 CACNG4 Chromosome:1 17q24 CACNG4 HGNC:1408 true 2020-06-12T23:07:08Z 2020-07-28T02:32:11Z 0 0 0 2781 CDBP02780 Voltage-dependent calcium channel gamma-5 subunit Q9UF02 CCG5_HUMAN false false Enzyme Homo_sapiens CACNG5 275 30902.4 7.38 Involved in calcium ion transport Thought to stabilize the calcium channel in an inactivated (closed) state ["None"] ["8-28", "103-123", "129-149", "176-196"] NM_145811.1 22027551 CACNG5 Chromosome:1 17q24 CACNG5 HGNC:1409 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2782 CDBP02781 Voltage-dependent calcium channel gamma-6 subunit Q9BXT2 CCG6_HUMAN false false Enzyme Homo_sapiens CACNG6 260 28128.7 9.44 Involved in calcium ion transport Thought to stabilize the calcium channel in an inactivated (closed) state ["None"] ["43-63", "143-163", "169-189", "221-241"] AF288386 13357176 CACNG6 Chromosome:1 19q13.4 CACNG6 HGNC:13625 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2783 CDBP02782 Voltage-dependent calcium channel gamma-7 subunit P62955 CCG7_HUMAN false false Enzyme Homo_sapiens CACNG7 275 31002.3 7.15 Involved in calcium ion transport Thought to stabilize the calcium channel in an inactivated (closed) state ["None"] ["8-28", "103-123", "129-149", "179-199"] NM_031896.3 21361975 CACNG7 Chromosome:1 19q13.4 CACNG7 HGNC:13626 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2784 CDBP02783 Voltage-dependent calcium channel gamma-8 subunit Q8WXS5 CCG8_HUMAN false false Enzyme Homo_sapiens CACNG8 425 43480.7 9.85 Involved in calcium ion transport Thought to stabilize the calcium channel in an inactivated (closed) state ["None"] ["19-39", "129-149", "158-178", "208-228", "318-338"] NM_031895.4 24586686 CACNG8 Chromosome:1 19q13.4 CACNG8 HGNC:13628 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2785 CDBP02784 Voltage-dependent calcium channel gamma-like subunit Q8WXS4 CCGL_HUMAN false false Enzyme Homo_sapiens TMEM37 190 20931.6 7.79 Involved in calcium channel activity Thought to stabilize the calcium channel in an inactivated (closed) state. Modulates calcium current when coexpressed with CACNA1G ["None"] ["25-45", "96-116", "131-151", "155-175"] NM_183240.2 116325983 TMEM37 Chromosome:2 2q14.2 TMEM37 HGNC:18216 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2786 CDBP02785 Cholecystokinin receptor type A P32238 CCKAR_HUMAN false false Receptor Homo_sapiens CCKAR 428 47840.6 9.48 Involved in G-protein coupled receptor protein signaling pathway Receptor for cholecystokinin. Mediates pancreatic growth and enzyme secretion, smooth muscle contraction of the gall bladder and stomach. Has a 1000-fold higher affinity for CCK rather than for gastrin. It modulates feeding and dopamine-induced behavior in the central and peripheral nervous system. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system ["None"] ["42-67", "78-104", "116-137", "158-178", "211-234", "314-334", "350-373"] L13605 CCKAR Chromosome:4 4p15.1-p15.2 CCKAR HGNC:1570 true 2020-06-12T23:07:08Z 2020-07-28T02:28:09Z 1 0 0 2787 CDBP02786 C-C motif chemokine 16 O15467 CCL16_HUMAN false false Receptor Homo_sapiens CCL16 120 13599.9 10.03 Involved in chemokine activity Shows chemotactic activity for lymphocytes and monocytes but not neutrophils. Also shows potent myelosuppressive activity, suppresses proliferation of myeloid progenitor cells. Recombinant SCYA16 shows chemotactic activity for monocytes and THP-1 monocytes, but not for resting lymphocytes and neutrophils. Induces a calcium flux in THP-1 cells that were desensitized by prior expression to RANTES ["1-23"] ["None"] AB007454 2723286 CCL16 Chromosome:1 17q11.2 CCL16 HGNC:10614 true 2020-06-12T23:07:08Z 2020-07-28T02:32:18Z 1 0 0 2788 CDBP02787 C-C motif chemokine 28 Q9NRJ3 CCL28_HUMAN false false Receptor Homo_sapiens CCL28 127 14279.5 10.88 Involved in chemokine activity Chemotactic activity for resting CD4, CD8 T-cells and eosinophils. Binds to CCR3 and CCR10 and induces calcium mobilization in a dose-dependent manner ["1-19"] ["None"] AF110384 12002127 CCL28 Chromosome:5 5p12 CCL28 HGNC:17700 true 2020-06-12T23:07:08Z 2020-07-28T02:32:18Z 1 0 0 2789 CDBP02788 C-C chemokine receptor type 10 P46092 CCR10_HUMAN false false Receptor Homo_sapiens CCR10 362 38415.1 10.02 Involved in G-protein coupled receptor protein signaling pathway Receptor for chemokines SCYA27 and SCYA28. Subsequently transduces a signal by increasing the intracellular calcium ions level and stimulates chemotaxis in a pre-B cell line ["None"] ["53-68", "79-99", "115-136", "160-179", "204-225", "248-269", "291-313"] NM_016602.2 156104886 CCR10 Chromosome:1 17q21.1-q21.3 CCR10 HGNC:4474 true 2020-06-12T23:07:08Z 2020-07-28T02:28:09Z 1 0 0 2790 CDBP02789 C-C chemokine receptor type 1 P32246 CCR1_HUMAN false false Receptor Homo_sapiens CCR1 355 41172.2 8.27 Involved in G-protein coupled receptor protein signaling pathway Receptor for a C-C type chemokine. Binds to MIP-1-alpha, MIP-1-delta, RANTES, and MCP-3 and, less efficiently, to MIP-1- beta or MCP-1 and subsequently transduces a signal by increasing the intracellular calcium ions level. Responsible for affecting stem cell proliferation ["None"] ["35-60", "65-91", "108-129", "147-171", "198-223", "240-264", "282-305"] L09230 CCR1 Chromosome:3 3p21 CCR1 HGNC:1602 true 2020-06-12T23:07:08Z 2020-07-28T02:28:09Z 1 0 0 2791 CDBP02790 C-C chemokine receptor type 2 P41597 CCR2_HUMAN false false Receptor Homo_sapiens CCR2 374 41914.3 9.25 Involved in G-protein coupled receptor protein signaling pathway Receptor for the MCP-1, MCP-3 and MCP-4 chemokines. Transduces a signal by increasing the intracellular calcium ions level. Alternative coreceptor with CD4 for HIV-1 infection ["None"] ["43-70", "81-100", "115-136", "154-178", "207-226", "244-268", "286-309"] U03882 CCR2 Chromosome:3 3p21.31 CCR2 HGNC:1603 true 2020-06-12T23:07:08Z 2020-07-28T02:28:09Z 1 0 0 2792 CDBP02791 C-C chemokine receptor type 3 P51677 CCR3_HUMAN false false Receptor Homo_sapiens CCR3 355 41043.3 8.31 Involved in G-protein coupled receptor protein signaling pathway Receptor for a C-C type chemokine. Binds to eotaxin, eotaxin-3, MCP-3, MCP-4, RANTES and MIP-1 delta. Subsequently transduces a signal by increasing the intracellular calcium ions level. Alternative coreceptor with CD4 for HIV-1 infection ["None"] ["35-62", "73-93", "108-129", "147-171", "204-223", "240-264", "282-305"] AB023887 6467133 CCR3 Chromosome:3 3p21.3 CCR3 HGNC:1604 true 2020-06-12T23:07:08Z 2020-07-28T02:28:09Z 1 0 0 2793 CDBP02792 C-C chemokine receptor type 4 P51679 CCR4_HUMAN false false Receptor Homo_sapiens CCR4 360 41402.4 7.58 Involved in G-protein coupled receptor protein signaling pathway High affinity receptor for the C-C type chemokines CCL17/TARC and CCL22/MDC. The activity of this receptor is mediated by G(i) proteins which activate a phosphatidylinositol- calcium second messenger system. Can function as a chemoattractant homing receptor on circulating memory lymphocytes and as a coreceptor for some primary HIV-2 isolates. In the CNS, could mediate hippocampal-neuron survival ["None"] ["40-67", "78-98", "112-133", "151-175", "207-226", "243-267", "285-308"] AB023888 6467135 CCR4 Chromosome:3 3p24 CCR4 HGNC:1605 true 2020-06-12T23:07:08Z 2020-07-28T02:28:09Z 1 0 0 2794 CDBP02793 C-C chemokine receptor type 5 P51681 CCR5_HUMAN false false Receptor Homo_sapiens CCR5 352 40523.6 9.18 Involved in G-protein coupled receptor protein signaling pathway Receptor for a number of inflammatory CC-chemokines including MIP-1-alpha, MIP-1-beta and RANTES and subsequently transduces a signal by increasing the intracellular calcium ion level. May play a role in the control of granulocytic lineage proliferation or differentiation. Acts as a coreceptor (CD4 being the primary receptor) for HIV-1 R5 isolates ["None"] ["31-58", "69-89", "103-124", "142-166", "199-218", "236-260", "278-301"] U54994 1457946 CCR5 Chromosome:3 3p21.31 CCR5 HGNC:1606 true 2020-06-12T23:07:08Z 2020-07-28T02:28:09Z 1 0 0 2795 CDBP02794 C-C chemokine receptor type 6 P51684 CCR6_HUMAN false false Receptor Homo_sapiens CCR6 374 42493.7 9.23 Involved in G-protein coupled receptor protein signaling pathway Receptor for a C-C type chemokine. Binds to MIP-3- alpha/LARC and subsequently transduces a signal by increasing the intracellular calcium ions level ["None"] ["48-74", "84-104", "120-141", "160-180", "212-238", "255-279", "304-321"] AL121935 9453791 CCR6 Chromosome:6 6q27 CCR6 HGNC:1607 true 2020-06-12T23:07:08Z 2020-07-28T02:28:10Z 1 0 0 2796 CDBP02795 C-C chemokine receptor type 9 P51686 CCR9_HUMAN false false Receptor Homo_sapiens CCR9 369 42015.3 8.26 Involved in G-protein coupled receptor protein signaling pathway Receptor for chemokine SCYA25/TECK. Subsequently transduces a signal by increasing the intracellular calcium ions level. Alternative coreceptor with CD4 for HIV-1 infection ["None"] ["54-74", "86-106", "128-148", "167-187", "219-239", "255-275", "301-321"] AJ132337 4886432 CCR9 Chromosome:3 3p21.3 CCR9 HGNC:1610 true 2020-06-12T23:07:08Z 2020-07-28T02:28:10Z 1 0 0 2797 CDBP02796 Carcinoembryonic antigen-related cell adhesion molecule 3 P40198 CEAM3_HUMAN false false Enzyme Homo_sapiens CEACAM3 252 27090.7 6.63 Major granulocyte receptor mediating recognition and efficient opsonin-independent phagocytosis of CEACAM-binding microorganisms, including Neissiria, Moxarella and Haemophilus species, thus playing an important role in the clearance of pathogens by the innate immune system. Responsible for RAC1 stimulation in the course of pathogen phagocytosis ["1-34"] ["156-176"] NM_001815.2 121114300 CEACAM3 Chromosome:1 19q13.2 CEACAM3 HGNC:1815 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2798 CDBP02797 Centrin-1 Q12798 CETN1_HUMAN false false Metal Binding Homo_sapiens CETN1 172 19569.9 4.51 Involved in calcium ion binding Plays a fundamental role in microtubule-organizing center structure and function ["None"] ["None"] 1M39 AK312047 189065260 CETN1 Chromosome:1 18p11.32 CETN1 HGNC:1866 true 2020-06-12T23:07:08Z 2020-07-28T02:32:00Z 0 1 0 2799 CDBP02798 Centrin-2 P41208 CETN2_HUMAN false false Metal Binding Homo_sapiens CETN2 172 19738.3 4.62 Involved in calcium ion binding Plays a fundamental role in microtubule-organizing center structure and function. Required for centriole duplication and correct spindle formation. Has a role in regulating cytokinesis and genome stability via cooperation with CALM1 and CEP110 ["None"] ["None"] 1M39 AK311940 189065158 CETN2 CETN2 HGNC:1867 true 2020-06-12T23:07:08Z 2020-07-28T02:32:00Z 0 1 0 2800 CDBP02799 Calcium homeostasis endoplasmic reticulum protein Q8IWX8 CHERP_HUMAN false false Enzyme Homo_sapiens CHERP 916 103701.6 9.39 Involved in nucleic acid binding Involved in calcium homeostasis, growth and proliferation ["None"] ["None"] NM_006387.5 119226260 CHERP Chromosome:1 19p13.1 CHERP HGNC:16930 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2801 CDBP02800 Cartilage intermediate layer protein 1 O75339 CILP1_HUMAN false false Enzyme Homo_sapiens CILP 1184 132622.7 8.44 Involved in negative regulation of insulin-like growth Probably plays a role in cartilage scaffolding. May act by antagonizing TGF-beta1 (TGFB1) and IGF1 functions. Has the ability to suppress IGF1-induced proliferation and sulfated proteoglycan synthesis, and inhibits ligand-induced IGF1R autophosphorylation. May inhibit TGFB1-mediated induction of cartilage matrix genes via its interaction with TGFB1. Overexpression may lead to impair chondrocyte growth and matrix repair and indirectly promote inorganic pyrophosphate (PPi) supersaturation in aging and osteoarthritis cartilage ["1-21"] ["None"] AB022430 4587271 CILP Chromosome:1 15q22 CILP HGNC:1980 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2802 CDBP02801 CDGSH iron-sulfur domain-containing protein 2 Q8N5K1 CISD2_HUMAN false false Enzyme Homo_sapiens CISD2 135 15278.0 10.25 Involved in 2 iron, 2 sulfur cluster binding Regulator of autophagy that contributes to antagonize BECN1-mediated cellular autophagy at the endoplasmic reticulum. Participates to the interaction of BCL2 with BECN1 and is required for BCL2-mediated depression of endoplasmic reticulum Ca(2+) stores during autophagy. Contributes to BIK-initiated autophagy, while it is not involved in BIK-dependent activation of caspases. Involved in life span control, probably via its function as regulator of autophagy ["None"] ["38-60"] AK292134 158257700 CISD2 Chromosome:4 4q24 CISD2 HGNC:24212 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2803 CDBP02802 C-type lectin domain family 10 member A Q8IUN9 CLC10_HUMAN false false Enzyme Homo_sapiens CLEC10A 316 35445.7 5.99 Involved in sugar binding Probable role in regulating adaptive and innate immune responses. Binds in a calcium-dependent manner to terminal galactose and N-acetylgalactosamine units, linked to serine or threonine. These sugar moieties are known as Tn-Ag and are expressed in a variety of carcinoma cells ["None"] ["40-60"] NM_182906.2 33667103 CLEC10A Chromosome:1 17p13.1 CLEC10A HGNC:16916 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2804 CDBP02803 C-type lectin domain family 4 member A Q9UMR7 CLC4A_HUMAN false false Enzyme Homo_sapiens CLEC4A 237 27512.0 6.76 Involved in sugar binding May be involved in regulating immune reactivity. May play a role in modulating dendritic cells (DC) differentiation and/or maturation. May be involved via its ITIM motif (immunoreceptor tyrosine-based inhibitory motifs) in the inhibition of B-cell-receptor-mediated calcium mobilization and protein tyrosine phosphorylation ["None"] ["49-69"] AF067800 8489015 CLEC4A Chromosome:1 12p13 CLEC4A HGNC:13257 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2805 CDBP02804 C-type lectin domain family 4 member C Q8WTT0 CLC4C_HUMAN false false Enzyme Homo_sapiens CLEC4C 213 25037.4 7.05 Involved in sugar binding Involved in antigen-capturing. Target ligand into antigen processing and peptide-loading compartments for presentation to T-cells. May mediate potent inhibition of induction of IFN-alpha/beta expression in plasmacytoid dendritic cells. May act as a signaling receptor that activates protein- tyrosine kinases and mobilizes intracellular calcium. Does not seem to bind mannose ["None"] ["22-44"] AF293615 17224598 CLEC4C Chromosome:1 12p13.2-p12.3 CLEC4C HGNC:13258 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2806 CDBP02805 C-type lectin domain family 4 member K Q9UJ71 CLC4K_HUMAN false false Enzyme Homo_sapiens CD207 328 36724.8 8.44 Involved in binding Calcium-dependent lectin displaying mannose-binding specificity, Induces the formation of Birbeck granules (BGs); is a potent regulator of membrane superimposition and zippering ["None"] ["44-64"] NM_015717.3 305410858 CD207 Chromosome:2 2p13 CD207 HGNC:17935 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2807 CDBP02806 C-type lectin domain family 5 member A Q9NY25 CLC5A_HUMAN false false Enzyme Homo_sapiens CLEC5A 188 21521.3 9.01 Involved in binding May be involved in proinflammatory activation of myeloid cells via TYROBP-mediated signaling in a calcium-dependent manner ["None"] ["5-27"] AC073647 41472352 CLEC5A Chromosome:7 7q33 CLEC5A HGNC:2054 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2808 CDBP02807 Calcium-activated chloride channel regulator 2 Q9UQC9 CLCA2_HUMAN false false Enzyme Homo_sapiens CLCA2 943 103940.0 7.03 Involved in chloride channel activity Play a role in modulating chloride current across the plasma membrane in a calcium-dependent manner, and cell adhesion. Involved in basal cell adhesion and/or stratification of squamous epithelia. May act as a tumor suppressor in breast and colorectal cancer. Plays a key role for cell adhesion in the beginning stages of lung metastasis via the binding to ITGB4 ["1-31"] ["902-922"] AB026833 4887601 CLCA2 Chromosome:1 1p22.3 CLCA2 HGNC:2016 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2809 CDBP02808 Calcium-activated chloride channel regulator 4 Q14CN2 CLCA4_HUMAN false false Enzyme Homo_sapiens CLCA4 919 101281.6 5.12 Involved in chloride channel activity May be involved in mediating calcium-activated chloride conductance ["1-21"] ["895-915"] NM_012128.3 150036262 CLCA4 Chromosome:1 1p31-p22 CLCA4 HGNC:2018 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2810 CDBP02809 Claudin-10 P78369 CLD10_HUMAN false false Enzyme Homo_sapiens CLDN10 228 24488.1 8.12 Involved in structural molecule activity Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity ["None"] ["1-21", "81-101", "116-136", "161-181"] BC010920 15012045 CLDN10 Chromosome:1 13q31-q34 CLDN10 HGNC:2033 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2811 CDBP02810 Claudin-11 O75508 CLD11_HUMAN false false Enzyme Homo_sapiens CLDN11 207 21993.0 7.96 Involved in structural molecule activity Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity ["None"] ["2-22", "83-103", "123-143", "158-178"] NM_005602.5 10938016 CLDN11 Chromosome:3 3q26.2-q26.3 CLDN11 HGNC:8514 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2812 CDBP02811 Claudin-12 P56749 CLD12_HUMAN false false Enzyme Homo_sapiens CLDN12 244 27109.5 8.54 Involved in structural molecule activity Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity ["None"] ["11-31", "88-108", "136-156", "175-195"] AC006153 30172723 CLDN12 Chromosome:7 7q21 CLDN12 HGNC:2034 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2813 CDBP02812 Claudin-14 O95500 CLD14_HUMAN false false Enzyme Homo_sapiens CLDN14 239 25698.8 8.68 Involved in structural molecule activity Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity ["None"] ["8-28", "82-102", "116-136", "163-183"] AF314090 12597447 CLDN14 Chromosome:2 21q22.3 CLDN14 HGNC:2035 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2814 CDBP02813 Claudin-15 P56746 CLD15_HUMAN false false Enzyme Homo_sapiens CLDN15 228 24356.0 5.69 Involved in structural molecule activity Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity ["None"] ["4-24", "80-100", "120-140", "158-178"] AJ245738 5731817 CLDN15 Chromosome:7 7q11.22 CLDN15 HGNC:2036 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2815 CDBP02814 Claudin-16 Q9Y5I7 CLD16_HUMAN false false Enzyme Homo_sapiens CLDN16 305 33836.1 7.97 Involved in structural molecule activity Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity. Involved in paracellular magnesium reabsorption. Required for a selective paracellular conductance. May form, alone or in partnership with other constituents, an intercellular pore permitting paracellular passage of magnesium and calcium ions down their electrochemical gradients. Alternatively, it could be a sensor of magnesium concentration that could alter paracellular permeability mediated by other factors ["None"] ["74-94", "151-171", "186-206", "240-260"] AF152101 5410527 CLDN16 Chromosome:3 3q28 CLDN16 HGNC:2037 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2816 CDBP02815 Claudin-17 P56750 CLD17_HUMAN false false Enzyme Homo_sapiens CLDN17 224 24603.1 10.08 Involved in structural molecule activity Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity ["None"] ["8-28", "82-102", "125-145", "165-185"] AJ250712 6433862 CLDN17 Chromosome:2 21q22.11 CLDN17 HGNC:2038 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2817 CDBP02816 Claudin-18 P56856 CLD18_HUMAN false false Enzyme Homo_sapiens CLDN18 261 27856.3 8.19 Involved in structural molecule activity Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity ["None"] ["7-27", "81-101", "123-143", "175-195"] AF221069 6715518 CLDN18 Chromosome:3 3q22.3 CLDN18 HGNC:2039 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2818 CDBP02817 Claudin-19 Q8N6F1 CLD19_HUMAN false false Enzyme Homo_sapiens CLDN19 224 23228.8 8.27 Involved in structural molecule activity Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity ["None"] ["8-28", "82-102", "118-138", "161-181"] NM_148960.2 183979973 CLDN19 Chromosome:1 1p34.2 CLDN19 HGNC:2040 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2819 CDBP02818 Claudin-1 O95832 CLD1_HUMAN false false Enzyme Homo_sapiens CLDN1 211 22743.6 8.18 Involved in structural molecule activity Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity. Acts as a co- receptor for HCV entry into hepatic cells ["None"] ["8-28", "82-102", "116-136", "164-184"] AF101051 4323581 CLDN1 Chromosome:3 3q28-q29 CLDN1 HGNC:2032 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2820 CDBP02819 Claudin-20 P56880 CLD20_HUMAN false false Enzyme Homo_sapiens CLDN20 219 23515.2 7.41 Involved in structural molecule activity Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity ["None"] ["8-28", "82-102", "119-139", "161-181"] AL139101 56204606 CLDN20 Chromosome:6 6q25 CLDN20 HGNC:2042 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2821 CDBP02820 Claudin-22 Q8N7P3 CLD22_HUMAN false false Enzyme Homo_sapiens CLDN22 220 24509.2 6.07 Involved in structural molecule activity Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity ["None"] ["11-30", "82-102", "118-138", "165-185"] NM_001111319.1 162417973 CLDN22 Chromosome:4 4q35.1 CLDN22 HGNC:2044 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2822 CDBP02821 Claudin-23 Q96B33 CLD23_HUMAN false false Enzyme Homo_sapiens CLDN23 292 31914.6 7.62 Involved in structural molecule activity Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity ["None"] ["4-24", "82-102", "111-131", "161-181"] BC125148 115527905 CLDN23 Chromosome:8 8p23.1 CLDN23 HGNC:17591 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2823 CDBP02822 Putative claudin-24 A6NM45 CLD24_HUMAN false false Enzyme Homo_sapiens CLDN24 205 22801.6 5.17 Involved in structural molecule activity Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity ["None"] ["11-31", "82-102", "118-138", "162-182"] CLDN24 Chromosome:4 4q35.1 CLDN24 HGNC:37200 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2824 CDBP02823 Claudin-2 P57739 CLD2_HUMAN false false Enzyme Homo_sapiens CLDN2 230 24548.4 8.26 Involved in structural molecule activity Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity ["None"] ["8-28", "82-102", "117-137", "163-183"] AF177340 10503980 CLDN2 CLDN2 HGNC:2041 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2825 CDBP02824 Claudin-3 O15551 CLD3_HUMAN false false Enzyme Homo_sapiens CLDN3 220 23318.3 8.12 Involved in structural molecule activity Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity ["None"] ["9-29", "81-101", "116-136", "160-180"] AB000714 2570129 CLDN3 Chromosome:7 7q11.23 CLDN3 HGNC:2045 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2826 CDBP02825 Claudin-9 O95484 CLD9_HUMAN false false Enzyme Homo_sapiens CLDN9 217 22848.0 6.93 Involved in structural molecule activity Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity ["None"] ["8-28", "82-102", "117-137", "160-180"] AJ130941 4128041 CLDN9 Chromosome:1 16p13.3 CLDN9 HGNC:2051 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2827 CDBP02826 Calmegin O14967 CLGN_HUMAN false false Metal Binding Homo_sapiens CLGN 610 70038.0 4.3 Involved in calcium ion binding Probably plays an important role in spermatogenesis. Binds calcium ions ["1-19"] ["472-492"] AK093096 193787446 CLGN Chromosome:4 4q28.3-q31.1 CLGN HGNC:2060 true 2020-06-12T23:07:08Z 2020-07-28T02:32:00Z 0 1 0 2828 CDBP02827 Clathrin heavy chain 1 Q00610 CLH1_HUMAN false false Enzyme Homo_sapiens CLTC 1675 191613.0 5.42 Involved in binding Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network ["None"] ["None"] 1XI5 NM_004859.3 4758012 CLTC Chromosome:1 17q11-qter CLTC HGNC:2092 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2829 CDBP02828 Clathrin heavy chain 2 P53675 CLH2_HUMAN false false Enzyme Homo_sapiens CLTCL1 1640 187028.2 5.67 Involved in binding Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network ["None"] ["None"] NM_007098.3 242246985 CLTCL1 Chromosome:2 22q11.2|22q11.21 CLTCL1 HGNC:2093 true 2020-06-12T23:07:08Z 2020-07-28T02:33:52Z 0 0 0 2830 CDBP02829 CMRF35-like molecule 9 Q6UXG3 CLM9_HUMAN false false Enzyme Homo_sapiens CD300LG 332 36059.6 5.74 Involved in receptor activity Receptor which may mediate L-selectin-dependent lymphocyte rollings. Binds SELL in a calcium dependent manner. Binds lymphocyte ["1-18"] ["248-268"] NM_145273.3 270132810 CD300LG Chromosome:1 17q21.31 CD300LG HGNC:30455 true 2020-06-12T23:07:08Z 2020-07-28T02:33:53Z 0 0 0 2831 CDBP02830 Chromogranin-A P10645 CMGA_HUMAN false false Enzyme Homo_sapiens CHGA 457 50688.1 4.27 Involved in regulation of blood pressure Pancreastatin strongly inhibits glucose induced insulin release from the pancreas ["1-18"] ["None"] 1LV4 AK223381 62898323 CHGA Chromosome:1 14q32 CHGA HGNC:1929 true 2020-06-12T23:07:08Z 2020-07-28T02:33:53Z 0 0 0 2832 CDBP02831 Cyclic nucleotide-gated cation channel alpha-4 Q8IV77 CNGA4_HUMAN false true Transporter Homo_sapiens CNGA4 575 65968.2 5.32 Involved in ion channel activity Second messenger, cAMP, causes the opening of cation- selective cyclic nucleotide-gated (CNG) channels and depolarization of the neuron (olfactory sensory neurons, OSNs). CNGA4 is the modulatory subunit of this channel which is known to play a central role in the transduction of odorant signals and subsequent adaptation. By accelerating the calcium-mediated negative feedback in olfactory signaling it allows rapid adaptation to odor stimulation and extends its range of odor detection ["None"] ["34-54", "66-86", "113-133", "169-189", "218-234", "245-265"] NM_001037329 82617546 CNGA4 Chromosome:1 11p15.4 CNGA4 HGNC:2152 true 2020-06-12T23:07:08Z 2020-07-28T02:32:11Z 0 0 0 2833 CDBP02832 CB1 cannabinoid receptor-interacting protein 1 Q96F85 CNRP1_HUMAN false false Receptor Homo_sapiens CNRIP1 164 18648.2 8.19 Involved in protein binding Isoform 1 suppresses cannabinoid receptor CNR1-mediated tonic inhibition of voltage-gated calcium channels. Isoform 2 does not have this effect ["None"] ["None"] AC015969 62702194 CNRIP1 Chromosome:2 2p14 CNRIP1 HGNC:24546 true 2020-06-12T23:07:08Z 2020-07-28T02:28:11Z 1 0 0 2834 CDBP02833 Collectin-12 Q5KU26 COL12_HUMAN false false Enzyme Homo_sapiens COLEC12 742 81514.7 5.39 Involved in sugar binding Scavenger receptor that displays several functions associated with host defense. Promotes binding and phagocytosis of Gram-positive, Gram-negative bacteria and yeast. Mediates the recognition, internalization and degradation of oxidatively modified low density lipoprotein (oxLDL) by vascular endothelial cells. Binds to several carbohydrates including Gal-type ligands, D-galactose, L- and D-fucose, GalNAc, T and Tn antigens in a calcium-dependent manner and internalizes specifically GalNAc in nurse-like cells. Binds also to sialyl Lewis X or a trisaccharide and asialo-orosomucoid (ASOR). May also play a role in the clearance of amyloid beta in Alzheimer disease ["None"] ["38-58"] AB005145 17026101 COLEC12 Chromosome:1 18pter-p11.3 COLEC12 HGNC:16016 true 2020-06-12T23:07:08Z 2020-07-28T02:33:53Z 0 0 0 2835 CDBP02834 Coactosin-like protein Q14019 COTL1_HUMAN false false Enzyme Homo_sapiens COTL1 142 15944.9 5.31 Involved in actin binding Binds to F-actin in a calcium-independent manner. Has no direct effect on actin depolymerization ["None"] ["None"] 1WNJ AK315675 189055056 COTL1 Chromosome:1 16q24.1 COTL1 HGNC:18304 true 2020-06-12T23:07:08Z 2020-07-28T02:33:53Z 0 0 0 2836 CDBP02835 Copine-1 Q99829 CPNE1_HUMAN false false Enzyme Homo_sapiens CPNE1 537 59058.3 5.62 Involved in calcium-dependent phospholipid binding May function in membrane trafficking. Exhibits calcium- dependent phospholipid binding properties ["None"] ["None"] NM_152925.2 23397696 CPNE1 Chromosome:2 20q11.22 CPNE1 HGNC:2314 true 2020-06-12T23:07:08Z 2020-07-28T02:33:53Z 0 0 0 2837 CDBP02836 Copine-3 O75131 CPNE3_HUMAN false false Enzyme Homo_sapiens CPNE3 537 60130.2 5.57 Involved in calcium-dependent phospholipid binding May function in membrane trafficking. Exhibits calcium- dependent phospholipid binding properties ["None"] ["None"] NM_003909.3 4503015 CPNE3 Chromosome:8 8q21.3 CPNE3 HGNC:2316 true 2020-06-12T23:07:08Z 2020-07-28T02:33:53Z 0 0 0 2838 CDBP02837 Copine-4 Q96A23 CPNE4_HUMAN false false Enzyme Homo_sapiens CPNE4 557 62394.6 6.28 May function in membrane trafficking. Exhibits calcium- dependent phospholipid binding properties ["None"] ["None"] AF465770 18496661 CPNE4 Chromosome:3 3q22.1 CPNE4 HGNC:2317 true 2020-06-12T23:07:08Z 2020-07-28T02:33:53Z 0 0 0 2839 CDBP02838 Copine-5 Q9HCH3 CPNE5_HUMAN false false Enzyme Homo_sapiens CPNE5 593 65733.0 5.81 May function in membrane trafficking. Exhibits calcium- dependent phospholipid binding properties ["None"] ["None"] NM_020939.1 25141323 CPNE5 Chromosome:6 6p21.1 CPNE5 HGNC:2318 true 2020-06-12T23:07:08Z 2020-07-28T02:33:53Z 0 0 0 2840 CDBP02839 Copine-6 O95741 CPNE6_HUMAN false false Enzyme Homo_sapiens CPNE6 557 61990.6 5.17 Involved in calcium ion binding May function in membrane trafficking. Exhibits calcium- dependent phospholipid binding properties. May have a role in synaptic plasticity ["None"] ["None"] AB009288 CPNE6 Chromosome:1 14q11.2 CPNE6 HGNC:2319 true 2020-06-12T23:07:08Z 2020-07-28T02:33:53Z 0 0 0 2841 CDBP02840 Copine-7 Q9UBL6 CPNE7_HUMAN false false Enzyme Homo_sapiens CPNE7 633 70293.3 6.33 Involved in transporter activity May function in membrane trafficking. Exhibits calcium- dependent phospholipid binding properties ["None"] ["None"] AJ133798 6453352 CPNE7 Chromosome:1 16q24.3 CPNE7 HGNC:2320 true 2020-06-12T23:07:08Z 2020-07-28T02:33:53Z 0 0 0 2842 CDBP02841 Copine-8 Q86YQ8 CPNE8_HUMAN false false Enzyme Homo_sapiens CPNE8 564 63107.1 5.75 May function in membrane trafficking. Exhibits calcium- dependent phospholipid binding properties ["None"] ["None"] AY177785 27802463 CPNE8 Chromosome:1 12q12 CPNE8 HGNC:23498 true 2020-06-12T23:07:08Z 2020-07-28T02:33:53Z 0 0 0 2843 CDBP02842 Copine-9 Q8IYJ1 CPNE9_HUMAN false false Enzyme Homo_sapiens CPNE9 553 61863.5 4.94 May function in membrane trafficking. Exhibits calcium- dependent phospholipid binding properties ["None"] ["None"] NM_153635.2 88703066 CPNE9 Chromosome:3 3p25.3 CPNE9 HGNC:24336 true 2020-06-12T23:07:08Z 2020-07-28T02:33:53Z 0 0 0 2844 CDBP02843 Calpain small subunit 1 P04632 CPNS1_HUMAN false false Metal Binding Homo_sapiens CAPNS1 268 28315.6 4.82 Involved in calcium ion binding Regulatory subunit of the calcium-regulated non- lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction ["None"] ["None"] 1KFU X04106 35328 CAPNS1 Chromosome:1 19q13.12 CAPNS1 HGNC:1481 true 2020-06-12T23:07:08Z 2020-07-28T02:32:00Z 0 1 0 2845 CDBP02844 Calpain small subunit 2 Q96L46 CPNS2_HUMAN false false Metal Binding Homo_sapiens CAPNS2 248 27660.0 5.41 Involved in calcium ion binding Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. This small subunit may act as a tissue-specific chaperone of the large subunit, possibly by helping it fold into its correct conformation for activity ["None"] ["None"] AY052551 15667255 CAPNS2 Chromosome:1 16q12.2 CAPNS2 HGNC:16371 true 2020-06-12T23:07:08Z 2020-07-28T02:32:00Z 0 1 0 2846 CDBP02845 Cysteine-rich secretory protein 2 P16562 CRIS2_HUMAN false false Enzyme Homo_sapiens CRISP2 243 27258.7 6.47 May regulate some ion channels' activity and therebye regulate calcium fluxes during sperm capacitation ["1-21"] ["None"] AL121950 10443473 CRISP2 Chromosome:6 6p12.3 CRISP2 HGNC:12024 true 2020-06-12T23:07:08Z 2020-07-28T02:33:53Z 0 0 0 2847 CDBP02846 Cornulin Q9UBG3 CRNN_HUMAN false false Metal Binding Homo_sapiens CRNN 495 53533.3 6.04 Involved in calcium ion binding Survival factor that participates in the clonogenicity of squamous esophageal epithelium cell lines, attenuates deoxycholic acid (DCA)-induced apoptotic cell death and release of calcium. When overexpressed in oral squamous carcinom cell lines, regulates negatively cell proliferation by the induction of G1 arrest ["None"] ["None"] AF077831 5911314 CRNN Chromosome:1 1q21 CRNN HGNC:1230 true 2020-06-12T23:07:08Z 2020-07-28T02:32:00Z 0 1 0 2848 CDBP02847 CREB-regulated transcription coactivator 1 Q6UUV9 CRTC1_HUMAN false false Enzyme Homo_sapiens CRTC1 634 67299.2 5.96 Cell wall/membrane/envelope biogenesis Transcriptional coactivator for CREB1 which activates transcription through both consensus and variant cAMP response element (CRE) sites. Acts as a coactivator, in the SIK/TORC signaling pathway, being active when dephosphorylated and acts independently of CREB1 'Ser-133' phosphorylation. Enhances the interaction of CREB1 with TAF4. Regulates the expression of specific CREB-activated genes such as the steroidogenic gene, StAR. Potent coactivator of PGC1alpha and inducer of mitochondrial biogenesis in muscle cells. Also coactivator for TAX activation of the human T-cell leukemia virus type 1 (HTLV-1) long terminal repeats (LTR). In the hippocampus, involved in late-phase long- term potentiation (L-LTP) maintenance at the Schaffer collateral- CA1 synapses ["None"] ["None"] AB014516 3327046 CRTC1 Chromosome:1 19p13.11 CRTC1 HGNC:16062 true 2020-06-12T23:07:08Z 2020-07-28T02:33:53Z 0 0 0 2849 CDBP02848 CREB-regulated transcription coactivator 2 Q53ET0 CRTC2_HUMAN false false Enzyme Homo_sapiens CRTC2 693 73301.0 7.11 Involved in protein binding Transcriptional coactivator for CREB1 which activates transcription through both consensus and variant cAMP response element (CRE) sites. Acts as a coactivator, in the SIK/TORC signaling pathway, being active when dephosphorylated and acts independently of CREB1 'Ser-133' phosphorylation. Enhances the interaction of CREB1 with TAF4. Regulates gluconeogenesis as a component of the LKB1/AMPK/TORC2 signaling pathway. Regulates the expression of specific genes such as the steroidogenic gene, StAR. Potent coactivator of PPARGC1A and inducer of mitochondrial biogenesis in muscle cells. Also coactivator for TAX activation of the human T-cell leukemia virus type 1 (HTLV-1) long terminal repeats (LTR) ["None"] ["None"] AK223559 62898850 CRTC2 Chromosome:1 1q21.3 CRTC2 HGNC:27301 true 2020-06-12T23:07:08Z 2020-07-28T02:33:53Z 0 0 0 2850 CDBP02849 Calsyntenin-1 O94985 CSTN1_HUMAN false false Metal Binding Homo_sapiens CLSTN1 981 109792.0 4.55 Involved in calcium ion binding Induces KLC1 association with vesicles and functions as a cargo in axonal anterograde transport. Complex formation with APBA2 and APP, stabilizes APP metabolism and enhances APBA2- mediated suppression of beta-APP40 secretion, due to the retardation of intracellular APP maturation. In complex with APBA2 and C99, a C-terminal APP fragment, abolishes C99 interaction with PSEN1 and thus APP C99 cleavage by gamma-secretase, most probably through stabilization of the direct interaction between APBA2 and APP. The intracellular fragment AlcICD suppresses APBB1-dependent transactivation stimulated by APP C-terminal intracellular fragment (AICD), most probably by competing with AICD for APBB1- binding. May modulate calcium-mediated postsynaptic signals ["1-28"] ["860-880"] NM_001009566.1 57242757 CLSTN1 Chromosome:1 1p36.22 CLSTN1 HGNC:17447 true 2020-06-12T23:07:08Z 2020-07-28T02:32:00Z 0 1 0 2851 CDBP02850 Calsyntenin-2 Q9H4D0 CSTN2_HUMAN false false Metal Binding Homo_sapiens CLSTN2 955 107004.9 5.07 Involved in calcium ion binding May modulate calcium-mediated postsynaptic signals ["1-20"] ["832-852"] NM_022131.2 209364544 CLSTN2 Chromosome:3 3q23 CLSTN2 HGNC:17448 true 2020-06-12T23:07:08Z 2020-07-28T02:32:00Z 0 1 0 2852 CDBP02851 Calsyntenin-3 Q9BQT9 CSTN3_HUMAN false false Metal Binding Homo_sapiens CLSTN3 956 106096.6 5.12 Involved in calcium ion binding May modulate calcium-mediated postsynaptic signals. Complex formation with APBA2 and APP, stabilizes APP metabolism and enhances APBA2-mediated suppression of beta-APP40 secretion, due to the retardation of intracellular APP maturation ["1-19"] ["848-868"] NM_014718.3 42475534 CLSTN3 Chromosome:1 12p13.31 CLSTN3 HGNC:18371 true 2020-06-12T23:07:08Z 2020-07-28T02:32:00Z 0 1 0 2853 CDBP02852 Cation channel sperm-associated protein 1 Q8NEC5 CTSR1_HUMAN false true Transporter Homo_sapiens CATSPER1 780 90090.2 7.74 Involved in ion channel activity Voltage-gated calcium channel that plays a central role in sperm cell hyperactivation. Controls calcium entry to mediate the hyperactivated motility, a step needed for sperm motility which is essential late in the preparation of sperm for fertilization. Activated by intracellular alkalinization ["None"] ["446-466", "486-506", "516-536", "542-562", "580-600", "647-667"] AF407333 16076816 CATSPER1 Chromosome:1 11q12.1 CATSPER1 HGNC:17116 true 2020-06-12T23:07:08Z 2020-07-28T02:32:11Z 0 0 0 2854 CDBP02853 Cation channel sperm-associated protein 2 Q96P56 CTSR2_HUMAN false true Transporter Homo_sapiens CATSPER2 530 62040.6 7.33 Involved in ion channel activity Voltage-gated calcium channel that plays a central role in sperm cell hyperactivation. Controls calcium entry to mediate the hyperactivated motility, a step needed for sperm motility which is essential late in the preparation of sperm for fertilization. Activated by intracellular alkalinization ["None"] ["113-133", "146-166", "179-199", "206-226", "243-263", "321-341"] NM_172095.1 26051223 CATSPER2 Chromosome:1 15q15.3 CATSPER2 HGNC:18810 true 2020-06-12T23:07:08Z 2020-07-28T02:32:11Z 0 0 0 2855 CDBP02854 Cation channel sperm-associated protein 3 Q86XQ3 CTSR3_HUMAN false true Transporter Homo_sapiens CATSPER3 398 46421.7 6.25 Involved in ion channel activity Voltage-gated calcium channel that plays a central role in sperm cell hyperactivation. Controls calcium entry to mediate the hyperactivated motility, a step needed for sperm motility which is essential late in the preparation of sperm for fertilization. Activated by intracellular alkalinization ["None"] ["51-71", "79-100", "116-136", "142-161", "180-200", "249-269"] AF432876 29468142 CATSPER3 Chromosome:5 5q31.1 CATSPER3 HGNC:20819 true 2020-06-12T23:07:08Z 2020-07-28T02:32:11Z 0 0 0 2856 CDBP02855 Cation channel sperm-associated protein 4 Q7RTX7 CTSR4_HUMAN false true Transporter Homo_sapiens CATSPER4 472 54091.9 4.93 Involved in ion channel activity Voltage-gated calcium channel that plays a central role in sperm cell hyperactivation. Controls calcium entry to mediate the hyperactivated motility, a step needed for sperm motility which is essential late in the preparation of sperm for fertilization. Activated by intracellular alkalinization ["None"] ["91-111", "131-151", "158-178", "180-197", "217-237", "285-305"] NM_198137.1 62988334 CATSPER4 Chromosome:1 1p35.3 CATSPER4 HGNC:23220 true 2020-06-12T23:07:08Z 2020-07-28T02:32:11Z 0 0 0 2857 CDBP02856 C-X-C chemokine receptor type 1 P25024 CXCR1_HUMAN false false Receptor Homo_sapiens CXCR1 350 39790.7 8.81 Involved in G-protein coupled receptor protein signaling pathway Receptor to interleukin-8, which is a powerful neutrophils chemotactic factor. Binding of IL-8 to the receptor causes activation of neutrophils. This response is mediated via a G-protein that activate a phosphatidylinositol-calcium second messenger system. This receptor binds to IL-8 with a high affinity and to MGSA (GRO) with a low affinity ["None"] ["40-66", "76-96", "112-133", "155-174", "200-220", "243-264", "286-308"] L19591 CXCR1 Chromosome:2 2q35 CXCR1 HGNC:6026 true 2020-06-12T23:07:08Z 2020-07-28T02:28:12Z 1 0 0 2858 CDBP02857 C-X-C chemokine receptor type 2 P25025 CXCR2_HUMAN false false Receptor Homo_sapiens CXCR2 360 40758.7 8.46 Involved in G-protein coupled receptor protein signaling pathway Receptor for interleukin-8 which is a powerful neutrophil chemotactic factor. Binding of IL-8 to the receptor causes activation of neutrophils. This response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system. Binds to IL-8 with high affinity. Also binds with high affinity to CXCL3, GRO/MGSA and NAP-2 ["None"] ["49-75", "85-105", "121-142", "164-183", "209-231", "252-273", "295-315"] NM_001168298.1 269973859 CXCR2 Chromosome:2 2q35 CXCR2 HGNC:6027 true 2020-06-12T23:07:08Z 2020-07-28T02:28:12Z 1 0 0 2859 CDBP02858 C-X-C chemokine receptor type 4 P61073 CXCR4_HUMAN false false Receptor Homo_sapiens CXCR4 352 39745.1 8.3 Involved in G-protein coupled receptor protein signaling pathway Receptor for the C-X-C chemokine CXCL12/SDF-1 that transduces a signal by increasing intracellular calcium ions levels and enhancing MAPK1/MAPK3 activation. Acts as a receptor for extracellular ubiquitin; leading to enhance intracellular calcium ions and reduce cellular cAMP levels. Involved in haematopoiesis and in cardiac ventricular septum formation. Plays also an essential role in vascularization of the gastrointestinal tract, probably by regulating vascular branching and/or remodeling processes in endothelial cells. Could be involved in cerebellar development. In the CNS, could mediate hippocampal-neuron survival. Acts as a coreceptor (CD4 being the primary receptor) for HIV-1 X4 isolates and as a primary receptor for some HIV-2 isolates. Promotes Env-mediated fusion of the virus ["None"] ["40-63", "80-99", "111-132", "155-175", "201-220", "241-261", "286-305"] L01639 CXCR4 Chromosome:2 2q21 CXCR4 HGNC:2561 true 2020-06-12T23:07:08Z 2020-07-28T02:28:12Z 1 0 0 2860 CDBP02859 C-X-C motif chemokine 11 O14625 CXL11_HUMAN false false Receptor Homo_sapiens CXCL11 94 10364.5 10.63 Involved in chemokine activity Chemotactic for interleukin-activated T-cells but not unstimulated T-cells, neutrophils or monocytes. Induces calcium release in activated T-cells. Binds to CXCR3. May play an important role in CNS diseases which involve T-cell recruitment. May play a role in skin immune responses ["1-21"] ["None"] 1RJT AF002985 2580586 CXCL11 Chromosome:4 4q21.2 CXCL11 HGNC:10638 true 2020-06-12T23:07:08Z 2020-07-28T02:32:18Z 1 0 0 2861 CDBP02860 C-X-C motif chemokine 13 O43927 CXL13_HUMAN false false Receptor Homo_sapiens CXCL13 109 12664.1 11.0 Involved in cytokine activity Chemotactic for B-lymphocytes but not for T-lymphocytes, monocytes and neutrophils. Does not induce calcium release in B- lymphocytes. Binds to BLR1/CXCR5 ["1-22"] ["None"] AF029894 3169814 CXCL13 Chromosome:4 4q21 CXCL13 HGNC:10639 true 2020-06-12T23:07:08Z 2020-07-28T02:32:18Z 1 0 0 2862 CDBP02861 Calcyclin-binding protein Q9HB71 CYBP_HUMAN false false Enzyme Homo_sapiens CACYBP 228 26209.8 8.59 Involved in protein homodimerization activity May be involved in calcium-dependent ubiquitination and subsequent proteosomal degradation of target proteins. Probably serves as a molecular bridge in ubiquitin E3 complexes. Participates in the ubiquitin-mediated degradation of beta-catenin (CTNNB1) ["None"] ["None"] AF057356 3063653 CACYBP Chromosome:1 1q24-q25 CACYBP HGNC:30423 true 2020-06-12T23:07:08Z 2020-07-28T02:33:53Z 0 0 0 2863 CDBP02862 Neuronal migration protein doublecortin O43602 DCX_HUMAN false false Enzyme Homo_sapiens DCX 441 49317.2 9.29 Involved in intracellular signaling pathway Seems to be required for initial steps of neuronal dispersion and cortex lamination during cerebral cortex development. May act by competing with the putative neuronal protein kinase DCAMKL1 in binding to a target protein. May in that way participate in a signaling pathway that is crucial for neuronal interaction before and during migration, possibly as part of a calcium ion-dependent signal transduction pathway. May be part with LIS-1 of an overlapping, but distinct, signaling pathways that promote neuronal migration ["None"] ["None"] 1MJD NM_000555.3 30181246 DCX DCX HGNC:2714 true 2020-06-12T23:07:08Z 2020-07-28T02:33:53Z 0 0 0 2864 CDBP02863 Deleted in malignant brain tumors 1 protein Q9UGM3 DMBT1_HUMAN false false Receptor Homo_sapiens DMBT1 2413 260733.2 5.11 Involved in scavenger receptor activity May be considered as a candidate tumor suppressor gene for brain, lung, esophageal, gastric, and colorectal cancers. May play roles in mucosal defense system, cellular immune defense and epithelial differentiation. May play a role as an opsonin receptor for SFTPD and SPAR in macrophage tissues throughout the body, including epithelial cells lining the gastrointestinal tract. May play a role in liver regeneration. May be an important factor in fate decision and differentiation of transit-amplifying ductular (oval) cells within the hepatic lineage. Required for terminal differentiation of columnar epithelial cells during early embryogenesis. May function as a binding protein in saliva for the regulation of taste sensation. Binds to HIV-1 envelope protein and has been shown to both inhibit and facilitate viral transmission. Displays a broad calcium-dependent binding spectrum against both Gram-positive and Gram-negative bacteria, suggesting a role in defense against bacterial pathogens. Binds to a range of poly- sulfated and poly-phosphorylated ligands which may explain its broad bacterial-binding specificity. Inhibits cytoinvasion of S.enterica. Associates with the actin cytoskeleton and is involved in its remodeling during regulated exocytosis. Interacts with pancreatic zymogens in a pH-dependent manner and may act as a Golgi cargo receptor in the regulated secretory pathway of the pancreatic acinar cell ["1-19"] ["None"] NM_007329.2 148539842 DMBT1 Chromosome:1 10q26.13 DMBT1 HGNC:2926 true 2020-06-12T23:07:08Z 2020-07-28T02:32:18Z 1 0 0 2865 CDBP02864 Dentin matrix acidic phosphoprotein 1 Q13316 DMP1_HUMAN false false Enzyme Homo_sapiens DMP1 513 55781.9 3.76 Involved in ossification May have a dual function during osteoblast differentiation. In the nucleus of undifferentiated osteoblasts, unphosphorylated form acts as a transcriptional component for activation of osteoblast-specific genes like osteocalcin. During the osteoblast to osteocyte transition phase it is phosphorylated and exported into the extracellular matrix, where it regulates nucleation of hydroxyapatite ["1-16"] ["None"] BC130581 120660278 DMP1 Chromosome:4 4q21 DMP1 HGNC:2932 true 2020-06-12T23:07:08Z 2020-07-28T02:33:53Z 0 0 0 2866 CDBP02865 Dentin matrix protein 4 Q8IXL6 DMP4_HUMAN false false Enzyme Homo_sapiens FAM20C 570 64445.4 7.21 Calcium-binding protein which may play a role in dentin mineralization ["1-21"] ["None"] BC040074 25304012 FAM20C Chromosome:7 7p22.3 FAM20C HGNC:22140 true 2020-06-12T23:07:08Z 2020-07-28T02:33:53Z 0 0 0 2867 CDBP02866 DnaJ homolog subfamily C member 5 Q9H3Z4 DNJC5_HUMAN false false Enzyme Homo_sapiens DNAJC5 198 22148.5 4.69 Involved in heat shock protein binding May have an important role in presynaptic function. May be involved in calcium-dependent neurotransmitter release at nerve endings ["None"] ["None"] NM_025219.1 45504382 DNAJC5 Chromosome:2 20q13.33 DNAJC5 HGNC:16235 true 2020-06-12T23:07:08Z 2020-07-28T02:33:53Z 0 0 0 2868 CDBP02867 Deoxyribonuclease gamma Q13609 DNSL3_HUMAN true false Enzyme Homo_sapiens DNASE1L3 305 35503.5 9.77 Involved in deoxyribonuclease activity Has DNA hydrolytic activity. Does not bind to actin. Cleaves chromatin DNA to nucleosomal units ["1-20"] ["None"] AF047354 2905786 DNASE1L3 Chromosome:3 3p14.3 DNASE1L3 HGNC:2959 true 2020-06-12T23:07:08Z 2020-07-28T02:28:12Z 0 0 0 2869 CDBP02868 Double C2-like domain-containing protein alpha Q14183 DOC2A_HUMAN false true Transporter Homo_sapiens DOC2A 400 43958.6 7.27 Involved in transporter activity Calcium sensor which most probably regulates fusion of vesicles with membranes. Binds calcium and phospholipids. May be involved in calcium dependent neurotransmitter release through the interaction with UNC13A. May be involved in calcium-dependent spontaneous release of neurotransmitter in absence of action potentials in neuronal cells. Regulates Ca(2+)-dependent secretory lysosome exocytosis in mast cells ["None"] ["None"] BC041769 71052058 DOC2A Chromosome:1 16p11.2 DOC2A HGNC:2985 true 2020-06-12T23:07:08Z 2020-07-28T02:32:11Z 0 0 0 2870 CDBP02869 Double C2-like domain-containing protein beta Q14184 DOC2B_HUMAN false true Transporter Homo_sapiens DOC2B 412 45948.7 8.2 Involved in transporter activity Calcium sensor which positively regulates SNARE- dependent fusion of vesicles with membranes. Binds phospholipids in a calcium-dependent manner and may act at the priming stage of fusion by modifying membrane curvature to stimulate fusion. Involved in calcium-triggered exocytosis in chromaffin cells and calcium-dependent spontaneous release of neurotransmitter in absence of action potentials in neuronal cells. Involved both in glucose-stimulated insulin secretion in pancreatic cells and insulin-dependent GLUT4 transport to the plasma membrane in adipocytes ["None"] ["None"] D70830 1235722 DOC2B Chromosome:1 17p13.3 DOC2B HGNC:2986 true 2020-06-12T23:07:08Z 2020-07-28T02:32:11Z 0 0 0 2871 CDBP02870 Desmocollin-1 Q08554 DSC1_HUMAN false false Metal Binding Homo_sapiens DSC1 894 99986.1 5.08 Involved in calcium ion binding Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms. Linked to the keratinization of epithelial tissues ["1-29"] ["692-714"] AF293358 10801202 DSC1 Chromosome:1 18q12.2|18q12.1 DSC1 HGNC:3035 true 2020-06-12T23:07:08Z 2020-07-28T02:32:00Z 0 1 0 2872 CDBP02871 Desmocollin-2 Q02487 DSC2_HUMAN false false Metal Binding Homo_sapiens DSC2 901 99960.9 4.98 Involved in calcium ion binding Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms ["1-27"] ["695-715"] BC063291 38648769 DSC2 Chromosome:1 18q12.1 DSC2 HGNC:3036 true 2020-06-12T23:07:08Z 2020-07-28T02:32:00Z 0 1 0 2873 CDBP02872 Desmocollin-3 Q14574 DSC3_HUMAN false false Metal Binding Homo_sapiens DSC3 896 99968.1 5.98 Involved in calcium ion binding Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms ["1-27"] ["691-711"] NM_001941.3 148539846 DSC3 Chromosome:1 18q12.1 DSC3 HGNC:3037 true 2020-06-12T23:07:08Z 2020-07-28T02:32:00Z 0 1 0 2874 CDBP02873 Desmoglein-1 Q02413 DSG1_HUMAN false false Metal Binding Homo_sapiens DSG1 1049 113746.7 4.66 Involved in calcium ion binding Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion ["1-23"] ["549-569"] NM_001942.2 119703744 DSG1 Chromosome:1 18q12.1 DSG1 HGNC:3048 true 2020-06-12T23:07:08Z 2020-07-28T02:32:00Z 0 1 0 2875 CDBP02874 Desmoglein-2 Q14126 DSG2_HUMAN false false Metal Binding Homo_sapiens DSG2 1118 122293.0 4.89 Involved in calcium ion binding Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion ["1-23"] ["610-634"] BC099655 68563344 DSG2 Chromosome:1 18q12.1 DSG2 HGNC:3049 true 2020-06-12T23:07:08Z 2020-07-28T02:32:00Z 0 1 0 2876 CDBP02875 Desmoglein-3 P32926 DSG3_HUMAN false false Metal Binding Homo_sapiens DSG3 999 107532.1 4.61 Involved in calcium ion binding Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion ["1-23"] ["616-640"] NM_001944.2 119964718 DSG3 Chromosome:1 18q12.1 DSG3 HGNC:3050 true 2020-06-12T23:07:08Z 2020-07-28T02:32:00Z 0 1 0 2877 CDBP02876 Desmoglein-4 Q86SJ6 DSG4_HUMAN false false Metal Binding Homo_sapiens DSG4 1040 113823.1 4.17 Involved in calcium ion binding Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. Coordinates the transition from proliferation to differentiation in hair follicle keratinocytes ["1-23"] ["632-652"] NM_177986.3 29789445 DSG4 Chromosome:1 18q12.1 DSG4 HGNC:21307 true 2020-06-12T23:07:08Z 2020-07-28T02:32:00Z 0 1 0 2878 CDBP02877 Dentin sialophosphoprotein Q9NZW4 DSPP_HUMAN false false Enzyme Homo_sapiens DSPP 1301 131148.6 3.4 Replication, recombination and repair DSP may be an important factor in dentinogenesis. DPP may bind high amount of calcium and facilitate initial mineralization of dentin matrix collagen as well as regulate the size and shape of the crystals ["1-15"] ["None"] NM_014208.3 89001107 DSPP Chromosome:4 4q21.3 DSPP HGNC:3054 true 2020-06-12T23:07:09Z 2020-07-28T02:33:53Z 0 0 0 2879 CDBP02878 Eukaryotic elongation factor 2 kinase O00418 EF2K_HUMAN true false Enzyme Homo_sapiens EEF2K 725 82143.5 4.98 Involved in elongation factor-2 kinase activity Phosphorylates eukaryotic elongation factor-2. Binds calmodulin ["None"] ["None"] NM_013302.3 9558749 EEF2K Chromosome:1 16p12.2 EEF2K HGNC:24615 true 2020-06-12T23:07:09Z 2020-07-28T02:28:13Z 0 1 0 2880 CDBP02879 EF-hand domain-containing family member A1 Q8IYU8 EFHA1_HUMAN false false Metal Binding Homo_sapiens EFHA1 434 49665.8 9.6 Involved in calcium ion binding ["None"] ["None"] NM_152726.2 22749443 EFHA1 Chromosome:1 13q12.11 EFHA1 HGNC:31830 true 2020-06-12T23:07:09Z 2020-07-28T02:32:00Z 0 1 0 2881 CDBP02880 EF-hand domain-containing family member A2 Q86XE3 EFHA2_HUMAN false false Metal Binding Homo_sapiens EFHA2 530 60710.8 8.4 Involved in calcium ion binding ["None"] ["67-83"] NM_181723.2 32171205 EFHA2 Chromosome:8 8p22 EFHA2 HGNC:27820 true 2020-06-12T23:07:09Z 2020-07-28T02:32:00Z 0 1 0 2882 CDBP02881 EF-hand domain-containing protein 1 Q5JVL4 EFHC1_HUMAN false false Metal Binding Homo_sapiens EFHC1 640 73989.7 6.04 Involved in calcium ion binding May enhance calcium influx through CACNA1E and stimulate programmed cell death ["None"] ["None"] AK001328 7022518 EFHC1 Chromosome:6 6p12.3 EFHC1 HGNC:16406 true 2020-06-12T23:07:09Z 2020-07-28T02:32:00Z 0 1 0 2883 CDBP02882 Chymotrypsin-like elastase family member 1 Q9UNI1 CELA1_HUMAN true false Enzyme Homo_sapiens CELA1 258 27798.0 8.38 Involved in serine-type endopeptidase activity Acts upon elastin ["1-8"] ["None"] AF120493 4731318 CELA1 Chromosome:1 12q13 CELA1 HGNC:3308 true 2020-06-12T23:07:09Z 2020-07-28T02:28:13Z 0 0 0 2884 CDBP02883 Enkurin Q8TC29 ENKUR_HUMAN false false Enzyme Homo_sapiens ENKUR 256 29454.0 9.91 Involved in calmodulin binding Adapter that functions to localize a calcium-sensitive signal transduction machinery in sperm to a calcium-permeable ion channel ["None"] ["None"] AK095021 21754205 ENKUR Chromosome:1 10p12.1 ENKUR HGNC:28388 true 2020-06-12T23:07:09Z 2020-07-28T02:33:53Z 0 0 0 2885 CDBP02884 Ectonucleoside triphosphate diphosphohydrolase 7 Q9NQZ7 ENTP7_HUMAN true false Enzyme Homo_sapiens ENTPD7 604 68959.5 7.6 Involved in hydrolase activity Preferentially hydrolyzes nucleoside 5'-triphosphates. The order of activity with respect to possible substrates is UTP > GTP > CTP ["None"] ["29-49", "547-567"] AF269255 9623384 ENTPD7 ENTPD7 HGNC:19745 true 2020-06-12T23:07:09Z 2020-07-28T02:28:13Z 0 0 0 2886 CDBP02885 Ectonucleoside triphosphate diphosphohydrolase 8 Q5MY95 ENTP8_HUMAN true false Enzyme Homo_sapiens ENTPD8 495 53903.14 5.305 Involved in hydrolase activity Canalicular ectonucleoside NTPDase responsible for the main hepatic NTPDase activity. Ectonucleoside NTPDases catalyze the hydrolysis of gamma- and beta-phosphate residues of nucleotides, playing a central role in concentration of extracellular nucleotides. Has activity toward ATP, ADP, UTP and UDP, but not toward AMP. NM_001033113.1 110431368 ENTPD8 9 9q34.3 ENTPD8 HGNC:24860 true hsa:377841 NP_001028285.1:NM_001033113.1;NP_940987.2:NM_198585.2 Calcium 2020-06-12T23:07:09Z 2020-07-28T02:28:13Z 0 0 0 2887 CDBP02886 Extended synaptotagmin-1 Q9BSJ8 ESYT1_HUMAN false false Enzyme Homo_sapiens ESYT1 1104 122855.3 5.61 May play a role as calcium-regulated intrinsic membrane protein ["None"] ["63-83", "245-265"] NM_015292.2 14149680 ESYT1 Chromosome:1 12q13.2 ESYT1 HGNC:29534 true 2020-06-12T23:07:09Z 2020-07-28T02:33:53Z 0 0 0 2888 CDBP02887 Extended synaptotagmin-2 A0FGR8 ESYT2_HUMAN false false Enzyme Homo_sapiens ESYT2 921 102356.5 9.8 May play a role as calcium-regulated intrinsic membrane protein ["None"] ["128-148", "302-322"] DQ993201 116292891 ESYT2 Chromosome:7 7q36.3 ESYT2 HGNC:22211 true 2020-06-12T23:07:09Z 2020-07-28T02:33:53Z 0 0 0 2889 CDBP02888 Extended synaptotagmin-3 A0FGR9 ESYT3_HUMAN false false Enzyme Homo_sapiens ESYT3 886 100034.5 8.47 May play a role as calcium-regulated intrinsic membrane protein ["None"] ["51-71"] NM_031913.3 103472031 ESYT3 Chromosome:3 3q22.3 ESYT3 HGNC:24295 true 2020-06-12T23:07:09Z 2020-07-28T02:33:53Z 0 0 0 2890 CDBP02889 RNA-binding protein EWS Q01844 EWS_HUMAN false false Metal Binding Homo_sapiens EWSR1 656 68478.2 9.56 Involved in nucleotide binding Might normally function as a repressor. EWS-fusion- proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes ["None"] ["None"] NM_005243.3 4885225 EWSR1 Chromosome:2 22q12.2 EWSR1 HGNC:3508 true 2020-06-12T23:07:09Z 2020-07-28T02:32:00Z 0 1 0 2891 CDBP02890 Fumarylacetoacetate hydrolase domain-containing protein 2A Q96GK7 FAH2A_HUMAN true false Enzyme Homo_sapiens FAHD2A 314 34596.1 8.38 Involved in catalytic activity May have hydrolase activity ["None"] ["None"] AC009238 62822204 FAHD2A Chromosome:2 2p24.3-p11.2 FAHD2A HGNC:24252 true 2020-06-12T23:07:09Z 2020-07-28T02:28:14Z 0 0 0 2892 CDBP02891 Fumarylacetoacetate hydrolase domain-containing protein 2B Q6P2I3 FAH2B_HUMAN true false Enzyme Homo_sapiens FAHD2B 314 34613.0 7.86 Involved in catalytic activity May have hydrolase activity ["None"] ["None"] AC018892 62822072 FAHD2B Chromosome:2 2q11.2 FAHD2B HGNC:25318 true 2020-06-12T23:07:09Z 2020-07-28T02:28:14Z 0 0 0 2893 CDBP02892 Acylpyruvase FAHD1, mitochondrial Q6P587 FAHD1_HUMAN true false Enzyme Homo_sapiens FAHD1 224 27128.185 7.689 Involved in catalytic activity Probable mitochondrial acylpyruvase which is able to hydrolyze acetylpyruvate and fumarylpyruvate in vitro. 1SAW NM_031208.3 13654274 FAHD1 16 16p13.3 FAHD1 HGNC:14169 true hsa:81889 NP_001018114.1:NM_001018104.2;NP_001135870.1:NM_001142398.1;NP_112485.1:NM_031208.3 Ubiquitous (at protein level). Magnesium or manganese Homodimer 2020-06-12T23:07:09Z 2020-07-28T02:28:14Z 0 1 0 2894 CDBP02893 Fibulin-2 P98095 FBLN2_HUMAN false false Metal Binding Homo_sapiens FBLN2 1184 126571.5 4.46 Involved in calcium ion binding Its binding to fibronectin and some other ligands is calcium dependent ["1-27"] ["None"] NM_001998.2 51873055 FBLN2 Chromosome:3 3p25.1 FBLN2 HGNC:3601 true 2020-06-12T23:07:09Z 2020-07-28T02:32:00Z 0 1 0 2895 CDBP02894 Fibrillin-1 P35555 FBN1_HUMAN false false Metal Binding Homo_sapiens FBN1 2871 312294.7 4.55 Involved in calcium ion binding Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-1- containing microfibrils provide long-term force bearing structural support ["1-27"] ["None"] 1UZQ AB177803 46559358 FBN1 Chromosome:1 15q21.1 FBN1 HGNC:3603 true 2020-06-12T23:07:09Z 2020-07-28T02:32:00Z 0 1 0 2896 CDBP02895 Fibrillin-2 P35556 FBN2_HUMAN false false Metal Binding Homo_sapiens FBN2 2912 314772.2 4.47 Involved in calcium ion binding Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-2- containing microfibrils regulate the early process of elastic fiber assembly ["1-28"] ["None"] NM_001999.3 66346695 FBN2 Chromosome:5 5q23-q31 FBN2 HGNC:3604 true 2020-06-12T23:07:09Z 2020-07-28T02:32:00Z 0 1 0 2897 CDBP02896 Fibrillin-3 Q75N90 FBN3_HUMAN false false Metal Binding Homo_sapiens FBN3 2809 300352.9 4.69 Involved in calcium ion binding Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin- containing microfibrils provide long-term force bearing structural support ["1-31"] ["None"] NM_032447.3 56237021 FBN3 Chromosome:1 19p13 FBN3 HGNC:18794 true 2020-06-12T23:07:09Z 2020-07-28T02:32:00Z 0 1 0 2898 CDBP02897 F-box only protein 43 Q4G163 FBX43_HUMAN false false Metal Binding Homo_sapiens FBXO43 708 78401.5 8.15 Involved in zinc ion binding Required to establish and maintain the arrest of oocytes at the second meiotic metaphase until fertilization. Probably acts by inhibiting the anaphase-promoting complex/cyclosome (APC/C) ubiquitin ligase. Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation (Probable) ["None"] ["None"] NM_001029860.3 117606351 FBXO43 Chromosome:8 8q22.2 FBXO43 HGNC:28521 true 2020-06-12T23:07:09Z 2020-07-28T02:32:00Z 0 1 0 2899 CDBP02898 Ficolin-2 Q15485 FCN2_HUMAN false false Receptor Homo_sapiens FCN2 313 34000.9 6.77 Involved in receptor binding May function in innate immunity through activation of the lectin complement pathway. Calcium-dependent and GlcNAc- binding lectin. Enhances phagocytosis of S.typhimurium by neutrophils, suggesting an opsonic effect via the collagen region ["1-25"] ["None"] AK290843 158255122 FCN2 Chromosome:9 9q34.3 FCN2 HGNC:3624 true 2020-06-12T23:07:09Z 2020-07-28T02:32:18Z 1 0 0 2900 CDBP02899 Alpha-2-HS-glycoprotein P02765 FETUA_HUMAN false false Enzyme Homo_sapiens AHSG 367 39324.3 5.52 Involved in cysteine-type endopeptidase inhibitor activity Promotes endocytosis, possesses opsonic properties and influences the mineral phase of bone. Shows affinity for calcium and barium ions ["1-18"] ["None"] AB038689 7106502 AHSG Chromosome:3 3q27 AHSG HGNC:349 true 2020-06-12T23:07:09Z 2020-07-28T02:33:53Z 0 0 0 2901 CDBP02900 Peptidyl-prolyl cis-trans isomerase FKBP1A P62942 FKB1A_HUMAN true false Enzyme Homo_sapiens FKBP1A 108 11950.7 8.48 Involved in protein folding May play a role in modulation of ryanodine receptor isoform-1 (RYR-1), a component of the calcium release channel of skeletal muscle sarcoplasmic reticulum. There are four molecules of FKBP12 per skeletal muscle RYR. PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides ["None"] ["None"] 1J4I M34539 FKBP1A Chromosome:2 20p13 FKBP1A HGNC:3711 true 2020-06-12T23:07:09Z 2020-07-28T02:28:14Z 0 0 0 2902 CDBP02901 Peptidyl-prolyl cis-trans isomerase FKBP7 Q9Y680 FKBP7_HUMAN true false Enzyme Homo_sapiens FKBP7 259 30009.1 6.51 Involved in calcium ion binding PPIases accelerate the folding of proteins during protein synthesis ["1-23"] ["None"] AF100751 5410288 FKBP7 Chromosome:2 2q31.2 FKBP7 HGNC:3723 true 2020-06-12T23:07:09Z 2020-07-28T02:28:14Z 0 1 0 2903 CDBP02902 Peptidyl-prolyl cis-trans isomerase FKBP8 Q14318 FKBP8_HUMAN true false Enzyme Homo_sapiens FKBP8 412 44561.3 4.49 Involved in protein folding Constitutively inactive PPiase, which becomes active when bound to calmodulin and calcium. Seems to act as a chaperone for BCL2, targets it to the mitochondria and modulates its phosphorylation state. The BCL2/FKBP8/calmodulin/calcium complex probably interferes with the binding of BCL2 to its targets. The active form of FKBP8 may therefore play a role in the regulation of apoptosis ["None"] ["390-410"] AY225339 28395543 FKBP8 Chromosome:1 19p12 FKBP8 HGNC:3724 true 2020-06-12T23:07:09Z 2020-07-28T02:28:14Z 0 0 0 2904 CDBP02903 Feline leukemia virus subgroup C receptor-related protein 2 Q9UPI3 FLVC2_HUMAN false false Receptor Homo_sapiens FLVCR2 526 57240.0 6.13 Involved in transmembrane transport Transporter specific for a calcium-chelator complex, important for growth and calcium metabolism ["None"] ["103-123", "125-145", "152-172", "176-196", "217-237", "252-272", "310-330", "349-369", "386-406", "407-427", "436-456", "471-491"] AC007182 5764708 FLVCR2 Chromosome:1 14q24.3 FLVCR2 HGNC:20105 true 2020-06-12T23:07:09Z 2020-07-28T02:28:14Z 1 0 0 2905 CDBP02904 N-formyl peptide receptor 3 P25089 FPR3_HUMAN false false Receptor Homo_sapiens FPR3 353 39965.0 8.01 Involved in G-protein coupled receptor protein signaling pathway Low affinity receptor for N-formyl-methionyl peptides, which are powerful neutrophils chemotactic factors. Binding of FMLP to the receptor causes activation of neutrophils. This response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system ["None"] ["28-50", "62-83", "101-121", "141-162", "206-226", "243-266", "287-306"] AY262690 30171334 FPR3 Chromosome:1 19q13.3-q13.4 FPR3 HGNC:3828 true 2020-06-12T23:07:09Z 2020-07-28T02:28:14Z 1 0 0 2906 CDBP02905 Extracellular matrix protein FRAS1 Q86XX4 FRAS1_HUMAN false false Enzyme Homo_sapiens FRAS1 4007 442927.7 5.33 Involved in cell communication ["1-26"] ["3901-3921"] AJ512501 29420380 FRAS1 Chromosome:4 4q21.21 FRAS1 HGNC:19185 true 2020-06-12T23:07:09Z 2020-07-28T02:33:53Z 0 0 0 2907 CDBP02906 FRAS1-related extracellular matrix protein 1 Q5H8C1 FREM1_HUMAN false false Enzyme Homo_sapiens FREM1 2179 244152.5 5.75 Involved in binding Extracellular matrix protein that plays a role in epidermal differentiation and is required for epidermal adhesion during embryonic development ["1-21"] ["None"] AB160987 58430435 FREM1 Chromosome:9 9p22.3 FREM1 HGNC:23399 true 2020-06-12T23:07:09Z 2020-07-28T02:33:53Z 0 0 0 2908 CDBP02907 FRAS1-related extracellular matrix protein 2 Q5SZK8 FREM2_HUMAN false false Metal Binding Homo_sapiens FREM2 3169 351154.0 4.65 Involved in calcium ion binding Extracellular matrix protein required for maintenance of the integrity of the skin epithelium and for maintenance of renal epithelia. May be required for epidermal adhesion ["1-46"] ["3114-3134"] NM_207361.4 79749430 FREM2 Chromosome:1 13q13.3 FREM2 HGNC:25396 true 2020-06-12T23:07:09Z 2020-07-28T02:32:00Z 0 1 0 2909 CDBP02908 FRAS1-related extracellular matrix protein 3 P0C091 FREM3_HUMAN false false Enzyme Homo_sapiens FREM3 2135 237762.4 4.98 Involved in cell communication Extracellular matrix protein which may play a role in cell adhesion ["1-30"] ["None"] NM_001168235 270265871 FREM3 Chromosome:4 4q31.21 FREM3 HGNC:25172 true 2020-06-12T23:07:09Z 2020-07-28T02:33:53Z 0 0 0 2910 CDBP02909 Fibrous sheath CABYR-binding protein Q5H9T9 FSCB_HUMAN false false Enzyme Homo_sapiens FSCB 825 87954.9 3.9 Cell motility May be involved in the later stages of fibrous sheath biogenesis. Binds calcium ["None"] ["None"] NM_032135.3 209977046 FSCB Chromosome:1 14q21.2 FSCB HGNC:20494 true 2020-06-12T23:07:09Z 2020-07-28T02:33:53Z 0 0 0 2911 CDBP02910 Furin P09958 FURIN_HUMAN false false Enzyme Homo_sapiens FURIN 794 86677.4 6.44 Involved in serine-type endopeptidase activity Furin is likely to represent the ubiquitous endoprotease activity within constitutive secretory pathways and capable of cleavage at the RX(K/R)R consensus motif ["1-24"] ["716-738"] 1P8J X17094 31478 FURIN Chromosome:1 15q26.1 FURIN HGNC:8568 true 2020-06-12T23:07:09Z 2020-07-28T02:33:53Z 0 0 0 2912 CDBP02911 Frizzled-10 Q9ULW2 FZD10_HUMAN false false Receptor Homo_sapiens FZD10 581 65335.1 8.53 Involved in cell surface receptor linked signaling pathway Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK- 3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues ["1-20"] ["226-246", "263-283", "312-332", "352-372", "394-414", "444-464", "503-523"] AB027464 5834488 FZD10 Chromosome:1 12q24.33 FZD10 HGNC:4039 true 2020-06-12T23:07:09Z 2020-07-28T02:32:18Z 1 0 0 2913 CDBP02912 Frizzled-1 Q9UP38 FZD1_HUMAN false false Receptor Homo_sapiens FZD1 647 71157.7 8.04 Involved in cell surface receptor linked signaling pathway Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK- 3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues. Activated by Wnt3A, Wnt3, Wnt1 and to a lesser extent Wnt2, but not by Wnt4, Wnt5A, Wnt5B, Wnt6, Wnt7A or Wnt7B ["1-69"] ["323-343", "355-375", "403-423", "446-466", "490-510", "537-557", "602-622"] AB017363 3927883 FZD1 Chromosome:7 7q21 FZD1 HGNC:4038 true 2020-06-12T23:07:09Z 2020-07-28T02:32:18Z 1 0 0 2914 CDBP02913 Frizzled-2 Q14332 FZD2_HUMAN false false Receptor Homo_sapiens FZD2 565 63553.6 8.15 Involved in cell surface receptor linked signaling pathway Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK- 3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues ["1-23"] ["248-268", "280-300", "328-348", "371-391", "415-435", "462-482", "520-540"] AB017364 3927885 FZD2 Chromosome:1 17q21.1 FZD2 HGNC:4040 true 2020-06-12T23:07:09Z 2020-07-28T02:32:18Z 1 0 0 2915 CDBP02914 Frizzled-3 Q9NPG1 FZD3_HUMAN false false Receptor Homo_sapiens FZD3 666 76261.9 7.77 Involved in cell surface receptor linked signaling pathway Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK- 3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues ["1-22"] ["206-226", "238-258", "289-309", "329-349", "375-395", "421-441", "478-498"] AB039723 7670052 FZD3 Chromosome:8 8p21 FZD3 HGNC:4041 true 2020-06-12T23:07:09Z 2020-07-28T02:32:18Z 1 0 0 2916 CDBP02915 Frizzled-4 Q9ULV1 FZD4_HUMAN false false Receptor Homo_sapiens FZD4 537 59880.5 7.29 Involved in cell surface receptor linked signaling pathway Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin (CTNNB1) canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin (CTNNB1) and activation of Wnt target genes. Plays a critical role in retinal vascularization by acting as a receptor for Wnt proteins and norrin (NDP). In retina, it can be both activated by Wnt protein-binding, but also by a Wnt-independent signaling via binding of norrin (NDP), promoting in both cases beta-catenin (CTNNB1) accumulation and stimulation of LEF/TCF-mediated transcriptional programs. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues ["1-36"] ["223-243", "255-275", "303-323", "345-365", "390-410", "437-457", "478-498"] AB032417 6277266 FZD4 Chromosome:1 11q14.2 FZD4 HGNC:4042 true 2020-06-12T23:07:09Z 2020-07-28T02:32:18Z 1 0 0 2917 CDBP02916 Frizzled-5 Q13467 FZD5_HUMAN false false Receptor Homo_sapiens FZD5 585 64506.7 8.34 Involved in cell surface receptor linked signaling pathway Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK- 3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues. Interacts specifically with Wnt5A to induce the beta- catenin pathway ["1-26"] ["239-259", "271-291", "316-336", "359-379", "403-423", "450-470", "501-521"] AB043702 14495151 FZD5 Chromosome:2 2q33.3 FZD5 HGNC:4043 true 2020-06-12T23:07:09Z 2020-07-28T02:32:18Z 1 0 0 2918 CDBP02917 Frizzled-6 O60353 FZD6_HUMAN false false Receptor Homo_sapiens FZD6 706 79291.4 8.0 Involved in cell surface receptor linked signaling pathway Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK- 3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues ["1-18"] ["202-222", "234-254", "285-305", "325-345", "371-391", "417-437", "474-494"] AB012911 3062803 FZD6 Chromosome:8 8q22.3-q23.1 FZD6 HGNC:4044 true 2020-06-12T23:07:09Z 2020-07-28T02:32:18Z 1 0 0 2919 CDBP02918 Frizzled-7 O75084 FZD7_HUMAN false false Receptor Homo_sapiens FZD7 574 63619.5 7.86 Involved in cell surface receptor linked signaling pathway Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK- 3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues ["1-32"] ["257-277", "289-309", "337-357", "380-400", "424-444", "471-491", "529-549"] AB010881 3434981 FZD7 Chromosome:2 2q33 FZD7 HGNC:4045 true 2020-06-12T23:07:09Z 2020-07-28T02:32:18Z 1 0 0 2920 CDBP02919 Frizzled-8 Q9H461 FZD8_HUMAN false false Receptor Homo_sapiens FZD8 694 73299.6 8.24 Involved in cell surface receptor linked signaling pathway Receptor for Wnt proteins. Component of the Wnt-Fzd- LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome- sized signalsomes. The beta-catenin canonical signaling pathway leads to the activation of disheveled proteins, inhibition of GSK- 3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues ["1-27"] ["276-296", "313-333", "397-417", "440-460", "484-504", "533-553", "585-605"] 1IJY AB043703 13623799 FZD8 Chromosome:1 10p11.21 FZD8 HGNC:4046 true 2020-06-12T23:07:09Z 2020-07-28T02:32:18Z 1 0 0 2921 CDBP02920 Frizzled-9 O00144 FZD9_HUMAN false false Receptor Homo_sapiens FZD9 591 64465.7 8.29 Involved in cell surface receptor linked signaling pathway Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK- 3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues ["1-22"] ["230-250", "267-287", "316-336", "356-376", "401-421", "448-468", "509-529"] AC005049 37574279 FZD9 Chromosome:7 7q11.23 FZD9 HGNC:4047 true 2020-06-12T23:07:09Z 2020-07-28T02:32:18Z 1 0 0 2922 CDBP02921 Protein G6b O95866 G6B_HUMAN false false Enzyme Homo_sapiens G6B 241 26163.1 10.08 Involved in heparin binding Inhibits platelet aggregation and activation by agonists such as ADP and collagen-related peptide. Appears to operate in a calcium-independent manner. Isoform B is a putative inhibitory receptor. Isoform A may be its activating counterpart ["1-17"] ["143-163"] AF129756 4337097 G6B G6B HGNC:13937 true 2020-06-12T23:07:09Z 2020-07-28T02:33:53Z 0 0 0 2923 CDBP02922 Gamma-aminobutyric acid type B receptor subunit 2 O75899 GABR2_HUMAN false false Receptor Homo_sapiens GABBR2 941 105820.5 8.83 Involved in G-protein coupled receptor activity Receptor for GABA. The activity of this receptor is mediated by G-proteins that inhibit adenylyl cyclase activity, stimulates phospholipase A2, activates potassium channels, inactivates voltage-dependent calcium-channels and modulates inositol phospholipids hydrolysis. Plays a critical role in the fine-tuning of inhibitory synaptic transmission. Pre-synaptic GABA-B-R inhibit neurotransmitter release by down-regulating high- voltage activated calcium channels, whereas postsynaptic GABA-B-R decrease neuronal excitability by activating a prominent inwardly rectifying potassium (Kir) conductance that underlies the late inhibitory postsynaptic potentials. Not only implicated in synaptic inhibition but also in hippocampal long-term potentiation, slow wave sleep, muscle relaxation and antinociception ["1-41"] ["484-504", "523-543", "552-572", "598-618", "655-675", "692-712", "721-741"] AJ012188 3776098 GABBR2 Chromosome:9 9q22.1-q22.3 GABBR2 HGNC:4507 true 2020-06-12T23:07:09Z 2020-07-28T02:28:15Z 1 0 0 2924 CDBP02923 GC-rich sequence DNA-binding factor P16383 GCF_HUMAN false false Transcription Factor Homo_sapiens TCF9 781 89383.7 5.81 Involved in DNA binding Factor that represses transcription. It binds to the GC- rich sequences (5'-GCGGGGC-3') present in the epidermal growth factor receptor, beta-actin, and calcium-dependent protease promoters ["None"] ["None"] AC005034 62822425 TCF9 TCF9 HGNC:1317 true 2020-06-12T23:07:09Z 2020-07-28T02:32:06Z 0 0 1 2925 CDBP02924 Gelsolin P06396 GELS_HUMAN false false Enzyme Homo_sapiens GSN 782 85696.9 6.19 Involved in actin binding Calcium-regulated, actin-modulating protein that binds to the plus (or barbed) ends of actin monomers or filaments, preventing monomer exchange (end-blocking or capping). It can promote the assembly of monomers into filaments (nucleation) as well as sever filaments already formed ["1-27"] ["None"] 1D0N X04412 736249 GSN Chromosome:9 9q33 GSN HGNC:4620 true 2020-06-12T23:07:09Z 2020-07-28T02:33:53Z 0 0 0 2926 CDBP02925 Glucagon receptor P47871 GLR_HUMAN false false Receptor Homo_sapiens GCGR 477 54008.4 8.83 Involved in transmembrane receptor activity This is a receptor for glucagon which plays a central role in regulating the level of blood glucose by controlling the rate of hepatic glucose production and insulin secretion. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system ["1-25"] ["143-166", "174-193", "226-249", "264-285", "304-326", "351-369", "382-404"] U03469 GCGR Chromosome:1 17q25 GCGR HGNC:4192 true 2020-06-12T23:07:09Z 2020-07-28T02:28:15Z 1 0 0 2927 CDBP02926 Polypeptide N-acetylgalactosaminyltransferase-like 6 Q49A17 GLTL6_HUMAN true false Enzyme Homo_sapiens GALNTL6 601 69787.21 7.455 Involved in metal ion binding Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor (By similarity). NM_001034845.2 194018457 GALNTL6 4 4q34.1 GALNTL6 HGNC:33844 true hsa:442117 NP_001030017.2:NM_001034845.2 Manganese;Calcium 2020-06-12T23:07:09Z 2020-07-28T02:28:15Z 0 1 0 2928 CDBP02927 Putative polypeptide N-acetylgalactosaminyltransferase-like protein 5 Q7Z4T8 GLTL5_HUMAN true false Enzyme Homo_sapiens GALNTL5 443 51480.1 9.16 Cell wall/membrane/envelope biogenesis May catalyze the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D- galactosamine residue to a serine or threonine residue on the protein receptor ["None"] ["5-27"] NM_145292.3 281485547 GALNTL5 Chromosome:7 7q36.1 GALNTL5 HGNC:21725 true 2020-06-12T23:07:09Z 2020-07-28T02:28:15Z 0 0 0 2929 CDBP02928 Guanine nucleotide-binding protein G(t) subunit alpha-3 A8MTJ3 GNAT3_HUMAN false false Receptor Homo_sapiens GNAT3 354 40356.7 5.87 Involved in signal transducer activity Guanine nucleotide-binding protein (G protein) alpha subunit playing a prominent role in bitter and sweet taste transduction as well as in umami (monosodium glutamate, monopotassium glutamate, and inosine monophosphate) taste transduction. Transduction by this alpha subunit involves coupling of specific cell-surface receptors with a cGMP-phosphodiesterase; Activation of phosphodiesterase lowers intracellular levels of cAMP and cGMP which may open a cyclic nucleotide-suppressible cation channel leading to influx of calcium, ultimately leading to release of neurotransmitter. Indeed, denatonium and strychnine induce transient reduction in cAMP and cGMP in taste tissue, whereas this decrease is inhibited by GNAT3 antibody. Gustducin heterotrimer transduces response to bitter and sweet compounds via regulation of phosphodiesterase for alpha subunit, as well as via activation of phospholipase C for beta and gamma subunits, with ultimate increase inositol trisphosphate and increase of intracellular Calcium. GNAT3 can functionally couple to taste receptors to transmit intracellular signal:receptor heterodimer TAS1R2/TAS1R3 senses sweetness and TAS1R1/TAS1R3 transduces umami taste, whereas the T2R family GPCRs act as bitter sensors. Functions also as lumenal sugar sensors in the gut to control the expression of the Na+-glucose transporter SGLT1 in response to dietaty sugar, as well as the secretion of Glucagon-like peptide- 1, GLP-1 and glucose-dependent insulinotropic polypeptide, GIP. Thus, may modulate the gut capacity to absorb sugars, with implications in malabsorption syndromes and diet-related disorders including diabetes and obesity ["None"] ["None"] NM_001102386.1 156139155 GNAT3 Chromosome:7 7q21.11 GNAT3 HGNC:22800 true 2020-06-12T23:07:09Z 2020-07-28T02:32:18Z 1 0 0 2930 CDBP02929 Putative gonadotropin-releasing hormone II receptor Q96P88 GNRR2_HUMAN false false Receptor Homo_sapiens GNRHR2 178 19031.1 10.11 Involved in G-protein coupled receptor protein signaling pathway Receptor for gonadotropin releasing hormone II (GnRH II). This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system (Potential) ["None"] ["41-61", "78-98", "116-136", "155-175"] GNRHR2 Chromosome:1 1q12 GNRHR2 HGNC:16341 true 2020-06-12T23:07:09Z 2020-07-28T02:28:16Z 1 0 0 2931 CDBP02930 G-protein coupled receptor family C group 6 member A Q5T6X5 GPC6A_HUMAN false false Receptor Homo_sapiens GPRC6A 926 104752.2 8.0 Involved in G-protein coupled receptor activity Receptor that is activated by both amino acids and extracellular concentration of calcium ions. The activity of this receptor is mediated by a G-protein that activates a phosphatidylinositol-calcium second messenger system. Senses changes in the extracellular concentration of calcium ions, suggesting that it may mediate extracellular calcium-sensing responses in osteoblasts. Osteocalin, stimulates its activity in presence of calcium. Has a lower affinity for calcium than CASR. Also acts as a receptor for amino acids, with a preference for basic amino acids such as L-Lys, L-Arg and L-ornithine. Its affinity for amino acids suggests that it may act as a regulatory component of the urea cycle ["1-18"] ["595-615", "632-652", "670-690", "705-725", "749-769", "783-803", "811-831"] NM_148963.2 112807234 GPRC6A Chromosome:6 6q22.1 GPRC6A HGNC:18510 true 2020-06-12T23:07:09Z 2020-07-28T02:28:16Z 1 0 0 2932 CDBP02931 G-protein coupled receptor 6 P46095 GPR6_HUMAN false false Receptor Homo_sapiens GPR6 362 37880.8 7.74 Involved in G-protein coupled receptor protein signaling pathway Orphan receptor with constitutive G(s) signaling activity that activate cyclic AMP. Promotes neurite outgrowth and blocks myelin inhibition in neurons ["None"] ["75-94", "107-130", "143-164", "186-205", "231-249", "278-304", "310-331"] AL591076 55960729 GPR6 Chromosome:6 6q21 GPR6 HGNC:4515 true 2020-06-12T23:07:09Z 2020-07-28T02:28:16Z 1 0 0 2933 CDBP02932 Grancalcin P28676 GRAN_HUMAN false false Metal Binding Homo_sapiens GCA 217 24009.8 4.82 Involved in calcium ion binding Calcium-binding protein that may play a role in the adhesion of neutrophils to fibronectin. May play a role in the formation of focal adhesions ["None"] ["None"] 1K94 NM_012198.3 6912388 GCA Chromosome:2 2q24.2 GCA HGNC:15990 true 2020-06-12T23:07:09Z 2020-07-28T02:32:00Z 0 1 0 2934 CDBP02933 Glutamate receptor 2 P42262 GRIA2_HUMAN false true Receptor Homo_sapiens GRIA2 883 98820.3 7.66 Involved in ionotropic glutamate receptor activity Ionotropic glutamate receptor. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L- glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist ["1-24"] ["544-564", "625-645", "813-833"] 1WVJ BC010574 14714846 GRIA2 Chromosome:4 4q32-q33 GRIA2 HGNC:4572 true 2020-06-12T23:07:09Z 2020-07-28T02:28:16Z 1 0 0 2935 CDBP02934 RAS guanyl-releasing protein 1 O95267 GRP1_HUMAN false false Metal Binding Homo_sapiens RASGRP1 797 90401.0 8.02 Involved in calcium ion binding Functions as a diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP. Activates the Erk/MAP kinase cascade. Couples T-lymphocytes and B-lymphocytes antigen receptors to the activation of Ras. Hence, regulates T-cells and B-cells development, homeostasis and differentiation. Functions also in FcERI-evoked degranulation and cytokine secretion by mast cells, regulating allergic responses. May also function in other cell types differentiation ["None"] ["None"] NM_005739.3 190684644 RASGRP1 Chromosome:1 15q14 RASGRP1 HGNC:9878 true 2020-06-12T23:07:09Z 2020-07-28T02:32:00Z 0 1 0 2936 CDBP02935 RAS guanyl-releasing protein 2 Q7LDG7 GRP2_HUMAN false false Metal Binding Homo_sapiens RASGRP2 609 69247.8 7.85 Involved in calcium ion binding Functions as a calcium- and DAG-regulated nucleotide exchange factor specifically activating Rap through the exchange of bound GDP for GTP. May also activates other GTPases such as RRAS, RRAS2, NRAS, KRAS but not HRAS. Functions in aggregation of platelets and adhesion of T-lymphocytes and neutrophils probably through inside-out integrin activation. May function in the muscarinic acetylcholine receptor M1/CHRM1 signaling pathway ["None"] ["None"] NM_001098670.1 149158727 RASGRP2 Chromosome:1 11q13 RASGRP2 HGNC:9879 true 2020-06-12T23:07:09Z 2020-07-28T02:32:00Z 0 1 0 2937 CDBP02936 Gastrin-releasing peptide receptor P30550 GRPR_HUMAN false false Receptor Homo_sapiens GRPR 384 43198.3 8.53 Involved in G-protein coupled receptor protein signaling pathway Receptor for gastrin releasing peptide (GRP). This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system ["None"] ["39-62", "77-96", "115-136", "153-174", "209-234", "265-285", "299-325"] AF293323 19744184 GRPR GRPR HGNC:4609 true 2020-06-12T23:07:09Z 2020-07-28T02:28:16Z 1 0 0 2938 CDBP02937 Guanylyl cyclase-activating protein 1 P43080 GUC1A_HUMAN true false Enzyme Homo_sapiens GUCA1A 201 22919.5 4.07 Involved in calcium ion binding Stimulates guanylyl cyclase 1 (GC1) when free calcium ions concentration is low and inhibits GC1 when free calcium ions concentration is elevated. This Ca(2+)-sensitive regulation of GC is a key event in recovery of the dark state of rod photoreceptors following light exposure ["None"] ["None"] AK125780 193785093 GUCA1A Chromosome:6 6p21.1 GUCA1A HGNC:4678 true 2020-06-12T23:07:09Z 2020-07-28T02:28:16Z 0 1 0 2939 CDBP02938 Guanylyl cyclase-activating protein 2 Q9UMX6 GUC1B_HUMAN true false Enzyme Homo_sapiens GUCA1B 200 23419.5 4.47 Involved in calcium ion binding Stimulates guanylyl cyclase 1 (GC1) and GC2 when free calcium ions concentration is low, and GC1 and GC2 when free calcium ions concentration is elevated. This Ca(2+)-sensitive regulation of GC is a key event in recovery of the dark state of rod photoreceptors following light exposure ["None"] ["None"] AF173229 5702369 GUCA1B Chromosome:6 6p21.1 GUCA1B HGNC:4679 true 2020-06-12T23:07:09Z 2020-07-28T02:28:16Z 0 1 0 2940 CDBP02939 Guanylyl cyclase-activating protein 3 O95843 GUC1C_HUMAN true false Enzyme Homo_sapiens GUCA1C 209 23822.0 4.71 Involved in calcium ion binding Stimulates guanylyl cyclase 1 (GC1) and GC2 when free calcium ions concentration is low and inhibits guanylyl cyclases when free calcium ions concentration is elevated. This Ca(2+)- sensitive regulation of guanylyl cyclase (GC) is a key event in recovery of the dark state of rod photoreceptors following light exposure ["None"] ["None"] AF110001 4406344 GUCA1C Chromosome:3 3q13.1 GUCA1C HGNC:4680 true 2020-06-12T23:07:09Z 2020-07-28T02:28:16Z 0 1 0 2941 CDBP02940 Histone H2A type 1 P0C0S8 H2A1_HUMAN false false Enzyme Homo_sapiens HIST1H2AG 130 14091.4 11.55 Involved in DNA binding Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling ["None"] ["None"] 1EQZ L19778 HIST1H2AG Chromosome:6 6p22.1 HIST1H2AG HGNC:4737 true 2020-06-12T23:07:09Z 2020-07-28T02:33:53Z 0 0 0 2942 CDBP02941 Histone H2A type 1-A Q96QV6 H2A1A_HUMAN false false Enzyme Homo_sapiens HIST1H2AA 131 14233.4 11.5 Involved in DNA binding Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling ["None"] ["None"] 1EQZ BC062211 38565972 HIST1H2AA Chromosome:6 6p22.2 HIST1H2AA HGNC:18729 true 2020-06-12T23:07:09Z 2020-07-28T02:33:53Z 0 0 0 2943 CDBP02942 Histone H2A type 1-B/E P04908 H2A1B_HUMAN false false Enzyme Homo_sapiens HIST1H2AB 130 14135.4 11.66 Involved in DNA binding Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling ["None"] ["None"] 1EQZ BC093836 HIST1H2AB Chromosome:6 6p21.3 HIST1H2AB HGNC:4734 true 2020-06-12T23:07:09Z 2020-07-28T02:33:54Z 0 0 0 2944 CDBP02943 Histone H2A type 1-H Q96KK5 H2A1H_HUMAN false false Enzyme Homo_sapiens HIST1H2AH 128 13906.1 11.53 Involved in DNA binding Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling ["None"] ["None"] 1EQZ BC093851 62739560 HIST1H2AH Chromosome:6 6p21.33 HIST1H2AH HGNC:13671 true 2020-06-12T23:07:09Z 2020-07-28T02:33:54Z 0 0 0 2945 CDBP02944 Histone H2A type 2-A Q6FI13 H2A2A_HUMAN false false Enzyme Homo_sapiens HIST2H2AA3 130 14095.4 11.55 Involved in DNA binding Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling ["None"] ["None"] 1EQZ L19779 HIST2H2AA3 Chromosome:1 1q21.2 HIST2H2AA3 HGNC:4736 true 2020-06-12T23:07:09Z 2020-07-28T02:33:54Z 0 0 0 2946 CDBP02945 Histone H2A type 2-B Q8IUE6 H2A2B_HUMAN false false Enzyme Homo_sapiens HIST2H2AB 130 13995.2 11.53 Involved in DNA binding Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling ["None"] ["None"] 1EQZ AY131972 24496255 HIST2H2AB Chromosome:1 1q21 HIST2H2AB HGNC:20508 true 2020-06-12T23:07:09Z 2020-07-28T02:33:54Z 0 0 0 2947 CDBP02946 Histone H2A type 3 Q7L7L0 H2A3_HUMAN false false Enzyme Homo_sapiens HIST3H2A 130 14121.4 11.66 Involved in DNA binding Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling ["None"] ["None"] 1EQZ AK311930 HIST3H2A Chromosome:1 1q42.13 HIST3H2A HGNC:20507 true 2020-06-12T23:07:09Z 2020-07-28T02:33:54Z 0 0 0 2948 CDBP02947 Homer protein homolog 1 Q86YM7 HOME1_HUMAN false false Enzyme Homo_sapiens HOMER1 354 40276.5 5.14 Cell cycle control, cell division, chromosome partitioning Postsynaptic density scaffolding protein. Binds and cross-links cytoplasmic regions of GRM1, GRM5, ITPR1, DNM3, RYR1, RYR2, SHANK1 and SHANK3. By physically linking GRM1 and GRM5 with ER-associated ITPR1 receptors, it aids the coupling of surface receptors to intracellular calcium release. May also couple GRM1 to PI3 kinase through its interaction with AGAP2. Isoform 1 regulates the trafficking and surface expression of GRM5. Isoform 3 acts as a natural dominant negative, in dynamic competition with constitutively expressed isoform 1 to regulate synaptic metabotropic glutamate function. Isoform 3, may be involved in the structural changes that occur at synapses during long-lasting neuronal plasticity and development ["None"] ["None"] 1I2H AF093262 3834615 HOMER1 Chromosome:5 5q14.2 HOMER1 HGNC:17512 true 2020-06-12T23:07:09Z 2020-07-28T02:33:54Z 0 0 0 2949 CDBP02948 Homer protein homolog 3 Q9NSC5 HOME3_HUMAN false false Enzyme Homo_sapiens HOMER3 361 39836.0 5.15 Involved in metabotropic glutamate receptor signaling p Postsynaptic density scaffolding protein. Binds and cross-links cytoplasmic regions of GRM1, GRM5, ITPR1, DNM3, RYR1, RYR2, SHANK1 and SHANK3. By physically linking GRM1 and GRM5 with ER-associated ITPR1 receptors, it aids the coupling of surface receptors to intracellular calcium release. Isoforms can be differently regulated and may play an important role in maintaining the plasticity at glutamatergic synapses ["None"] ["None"] NM_001145722.1 224809414 HOMER3 Chromosome:1 19p13.11 HOMER3 HGNC:17514 true 2020-06-12T23:07:09Z 2020-07-28T02:33:54Z 0 0 0 2950 CDBP02949 Neuron-specific calcium-binding protein hippocalcin P84074 HPCA_HUMAN false false Metal Binding Homo_sapiens HPCA 193 22427.2 4.6 Involved in calcium ion binding May be involved in the calcium-dependent regulation of rhodopsin phosphorylation. Binds two calcium ions ["None"] ["None"] AB015202 4191822 HPCA Chromosome:1 1p35-p34.2 HPCA HGNC:5144 true 2020-06-12T23:07:09Z 2020-07-28T02:32:00Z 0 1 0 2951 CDBP02950 Hippocalcin-like protein 1 P37235 HPCL1_HUMAN false false Metal Binding Homo_sapiens HPCAL1 193 22313.0 4.99 Involved in calcium ion binding May be involved in the calcium-dependent regulation of rhodopsin phosphorylation ["None"] ["None"] 1BJF BC009846 14602648 HPCAL1 Chromosome:2 2p25.1 HPCAL1 HGNC:5145 true 2020-06-12T23:07:09Z 2020-07-28T02:32:01Z 0 1 0 2952 CDBP02951 Hippocalcin-like protein 4 Q9UM19 HPCL4_HUMAN false false Metal Binding Homo_sapiens HPCAL4 191 22202.2 4.51 Involved in calcium ion binding May be involved in the calcium-dependent regulation of rhodopsin phosphorylation ["None"] ["None"] AB001105 6446567 HPCAL4 Chromosome:1 1p34.2 HPCAL4 HGNC:18212 true 2020-06-12T23:07:09Z 2020-07-28T02:32:01Z 0 1 0 2953 CDBP02952 Inhibitor of Bruton tyrosine kinase Q9P2D0 IBTK_HUMAN true false Enzyme Homo_sapiens IBTK 1353 150526.6 7.75 Involved in protein binding Acts as an inhibitor of BTK tyrosine kinase activity, thereby playing a role in B-cell development. Down-regulates BTK kinase activity, leading to interference with BTK-mediated calcium mobilization and NF-kappa-B-driven transcription ["None"] ["None"] NM_015525.2 57863304 IBTK Chromosome:6 6q14.1 IBTK HGNC:17853 true 2020-06-12T23:07:09Z 2020-07-28T02:28:17Z 0 0 0 2954 CDBP02953 Calpastatin P20810 ICAL_HUMAN false false Enzyme Homo_sapiens CAST 708 76572.0 4.7 Involved in calcium-dependent cysteine-type endopeptidase inhibitor activity Specific inhibition of calpain (calcium-dependent cysteine protease). Plays a key role in postmortem tenderization of meat and have been proposed to be involved in muscle protein degradation in living tissue ["None"] ["None"] D16217 303599 CAST Chromosome:5 5q15 CAST HGNC:1515 true 2020-06-12T23:07:09Z 2020-07-28T02:33:54Z 0 0 0 2955 CDBP02954 Immunoglobulin superfamily member 2 Q93033 IGSF2_HUMAN false false Enzyme Homo_sapiens CD101 1021 115107.7 6.96 Involved in hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides Plays a role as inhibitor of T-cells proliferation induced by CD3. Inhibits expression of IL2RA on activated T-cells and secretion of IL2. Inhibits tyrosine kinases that are required for IL2 production and cellular proliferation. Inhibits phospholipase C-gamma-1/PLCG1 phosphorylation and subsequent CD3- induced changes in intracellular free calcium. Prevents nuclear translocation of nuclear factor of activated T-cell to the nucleus. Plays a role in the inhibition of T-cell proliferation via IL10 secretion by cutaneous dendritic cells. May be a marker of CD4(+) CD56(+) leukemic tumor cells ["1-20"] ["955-975"] AL445231 55665019 CD101 Chromosome:1 1p13 CD101 HGNC:5949 true 2020-06-12T23:07:09Z 2020-07-28T02:33:54Z 0 0 0 2956 CDBP02955 Immunoglobulin superfamily member 5 Q9NSI5 IGSF5_HUMAN false false Enzyme Homo_sapiens IGSF5 407 44592.2 7.83 Provides, together with MAGI1, an adhesion machinery at tight junctions, which may regulate the permeability of kidney glomerulus and small intestinal epithelial cells. Mediates calcium-independent homophilic cell adhesion. In testis, it may function as a cell adhesion molecule rather than a tight-junction protein. It may participate in the adhesion between spermatogonia- spermatogonia, spermatogonia-Sertoli cells, and Sertoli cells- Sertoli cells ["None"] ["267-285"] AK092516 193787359 IGSF5 Chromosome:2 21q22.2 IGSF5 HGNC:5952 true 2020-06-12T23:07:09Z 2020-07-28T02:33:54Z 0 0 0 2957 CDBP02956 Inversin Q9Y283 INVS_HUMAN false false Enzyme Homo_sapiens INVS 1065 117825.4 9.89 Involved in calmodulin binding Required for normal renal development and establishment of left-right axis. Probably acts as a molecular switch between different Wnt signaling pathways. Inhibits the canonical Wnt pathway by targeting cytoplasmic disheveled (DVL1) for degradation by the ubiquitin-proteasome. This suggests that it is required in renal development to oppose the repression of terminal differentiation of tubular epithelial cells by Wnt signaling ["None"] ["None"] NM_014425.2 34304381 INVS Chromosome:9 9q31 INVS HGNC:17870 true 2020-06-12T23:07:09Z 2020-07-28T02:33:54Z 0 0 0 2958 CDBP02957 Integrin beta-7 P26010 ITB7_HUMAN false false Receptor Homo_sapiens ITGB7 798 86902.4 5.95 Involved in receptor activity Integrin alpha-4/beta-7 (Peyer patches-specific homing receptor LPAM-1) is an adhesion molecule that mediates lymphocyte migration and homing to gut-associated lymphoid tissue (GALT). Integrin alpha-4/beta-7 interacts with the cell surface adhesion molecules MADCAM1 which is normally expressed by the vascular endothelium of the gastrointestinal tract. Interacts also with VCAM1 and fibronectin, an extracellular matrix component. It recognizes one or more domains within the alternatively spliced CS-1 region of fibronectin. Interactions involves the tripeptide L-D-T in MADCAM1, and L-D-V in fibronectin. Binds to HIV-1 gp120, thereby allowing the virus to enter GALT, which is thought to be the major trigger of AIDS disease. Interaction would involve a tripeptide L-D-I in HIV-1 gp120. Integrin alpha-E/beta-7 (HML-1) is a receptor for E-cadherin ["1-19"] ["724-746"] M68892 186509 ITGB7 Chromosome:1 12q13.13 ITGB7 HGNC:6162 true 2020-06-12T23:07:09Z 2020-07-28T02:32:18Z 1 0 0 2959 CDBP02958 Integrin beta-1-binding protein 2 Q9UKP3 ITBP2_HUMAN false false Enzyme Homo_sapiens ITGB1BP2 347 38381.9 4.81 Involved in SH3 domain binding May play a role during maturation and/or organization of muscles cells ["None"] ["None"] AF110225 17224233 ITGB1BP2 ITGB1BP2 HGNC:6154 true 2020-06-12T23:07:09Z 2020-07-28T02:33:54Z 0 0 0 2960 CDBP02959 Intelectin-1 Q8WWA0 ITLN1_HUMAN false false Receptor Homo_sapiens ITLN1 313 34961.5 5.89 Involved in receptor binding Has no effect on basal glucose uptake but enhances insulin-stimulated glucose uptake in adipocytes. Increases AKT phosphorylation in the absence and presence of insulin. May play a role in the defense system against microorganisms. May specifically recognize carbohydrate chains of pathogens and bacterial components containing galactofuranosyl residues, in a calcium-dependent manner. May be involved in iron metabolism ["1-18"] ["None"] AB036706 8096221 ITLN1 Chromosome:1 1q21.3 ITLN1 HGNC:18259 true 2020-06-12T23:07:09Z 2020-07-28T02:32:19Z 1 0 0 2961 CDBP02960 Inositol 1,4,5-trisphosphate receptor type 2 Q14571 ITPR2_HUMAN false true Receptor Homo_sapiens ITPR2 2701 308061.1 6.39 Involved in calcium channel activity Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium ["None"] ["2228-2248", "2261-2281", "2308-2328", "2352-2372", "2395-2415", "2522-2542"] NM_002223.2 95147335 ITPR2 Chromosome:1 12p11 ITPR2 HGNC:6181 true 2020-06-12T23:07:09Z 2020-07-28T02:28:18Z 1 0 0 2962 CDBP02961 Inositol 1,4,5-trisphosphate receptor type 3 Q14573 ITPR3_HUMAN false true Receptor Homo_sapiens ITPR3 2671 304104.0 6.45 Involved in calcium channel activity Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium ["None"] ["2203-2223", "2236-2256", "2265-2285", "2326-2346", "2369-2389", "2497-2517"] AL139044 55957567 ITPR3 Chromosome:6 6p21 ITPR3 HGNC:6182 true 2020-06-12T23:07:09Z 2020-07-28T02:28:18Z 1 0 0 2963 CDBP02962 C-Jun-amino-terminal kinase-interacting protein 1 Q9UQF2 JIP1_HUMAN true false Enzyme Homo_sapiens MAPK8IP1 711 77523.6 4.61 Involved in kinesin binding The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module. Required for JNK activation in response to excitotoxic stress. Cytoplasmic MAPK8IP1 causes inhibition of JNK- regulated activity by retaining JNK in the cytoplasm and inhibiting JNK phosphorylation of c-Jun. May also participate in ApoER2-specific reelin signaling. Directly, or indirectly, regulates GLUT2 gene expression and beta-cell function. Appears to have a role in cell signaling in mature and developing nerve terminals. May function as a regulator of vesicle transport, through interactions with the JNK-signaling components and motor proteins. Functions as an anti-apoptotic protein and whose level seems to influence the beta-cell death or survival response ["None"] ["None"] AF074091 MAPK8IP1 Chromosome:1 11p11.2 MAPK8IP1 HGNC:6882 true 2020-06-12T23:07:09Z 2020-07-28T02:28:18Z 0 0 0 2964 CDBP02963 Junctional sarcoplasmic reticulum protein 1 Q96MG2 JSPR1_HUMAN false false Enzyme Homo_sapiens JSRP1 331 36318.3 10.14 Translation, ribosomal structure and biogenesis May function as a regulator of the voltage-sensitive calcium channel CACNA1S. May regulate CACNA1S membrane targeting and activity. May function in excitation/contraction coupling in muscle cells ["None"] ["None"] AK056978 16552528 JSRP1 Chromosome:1 19p13.3 JSRP1 HGNC:24963 true 2020-06-12T23:07:09Z 2020-07-28T02:33:54Z 0 0 0 2965 CDBP02964 Calcium/calmodulin-dependent protein kinase type 1B Q6P2M8 KCC1B_HUMAN true false Enzyme Homo_sapiens PNCK 343 38499.5 6.75 Involved in protein kinase activity Calcium/calmodulin-dependent protein kinase belonging to a proposed calcium-triggered signaling cascade. In vitro phosphorylates CREB1 and SYN1/synapsin I. Phosphorylates and activates CAMK1 ["None"] ["None"] 209364621 PNCK PNCK HGNC:13415 true 2020-06-12T23:07:09Z 2020-07-28T02:28:18Z 0 0 0 2966 CDBP02965 Kv channel-interacting protein 1 Q9NZI2 KCIP1_HUMAN false false Metal Binding Homo_sapiens KCNIP1 227 26817.3 4.89 Involved in calcium ion binding Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels. Probably modulates channels density, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner. In vitro, modulates KCND1/Kv4.1 and KCND2/Kv4.2 currents. Seems to be involved in KCND2 trafficking to the cell surface ["None"] ["None"] 1S1E NM_001034837.1 78190480 KCNIP1 Chromosome:5 5q35.1 KCNIP1 HGNC:15521 true 2020-06-12T23:07:09Z 2020-07-28T02:32:01Z 0 1 0 2967 CDBP02966 Kv channel-interacting protein 2 Q9NS61 KCIP2_HUMAN false false Metal Binding Homo_sapiens KCNIP2 270 30918.6 4.73 Involved in calcium ion binding Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels. Probably modulates channels density, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner. In vitro, modulates KCND2/Kv4.2 and KCND3/Kv4.3 currents. Involved in KCND2 and KCND3 trafficking to the cell surface ["None"] ["None"] AB044584 9309285 KCNIP2 Chromosome:1 10q24 KCNIP2 HGNC:15522 true 2020-06-12T23:07:09Z 2020-07-28T02:32:01Z 0 1 0 2968 CDBP02967 Kv channel-interacting protein 4 Q6PIL6 KCIP4_HUMAN false false Metal Binding Homo_sapiens KCNIP4 250 28728.4 4.86 Involved in calcium ion binding Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels. Probably modulates channels density, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner. In vitro, modulates KCND2/Kv4.2 and KCND3/Kv4.3 currents ["None"] ["None"] NM_025221.5 24586671 KCNIP4 Chromosome:4 4p15.32 KCNIP4 HGNC:30083 true 2020-06-12T23:07:09Z 2020-07-28T02:32:01Z 0 1 0 2969 CDBP02968 Calcium-activated potassium channel subunit beta-1 Q16558 KCMB1_HUMAN false true Transporter Homo_sapiens KCNMB1 191 21797.3 9.16 Involved in calcium-activated potassium channel activity Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Increases the apparent Ca(2+)/voltage sensitivity of the KCNMA1 channel. It also modifies KCNMA1 channel kinetics and alters its pharmacological properties. It slows down the activation and the deactivation kinetics of the channel. Acts as a negative regulator of smooth muscle contraction by enhancing the calcium sensitivity to KCNMA1. Its presence is also a requirement for internal binding of the KCNMA1 channel opener dehydrosoyasaponin I (DHS-1) triterpene glycoside and for external binding of the agonist hormone 17-beta-estradiol (E2). Increases the binding activity of charybdotoxin (CTX) toxin to KCNMA1 peptide blocker by increasing the CTX association rate and decreasing the dissociation rate ["None"] ["19-39", "158-178"] U25138 KCNMB1 Chromosome:5 5q34 KCNMB1 HGNC:6285 true 2020-06-12T23:07:09Z 2020-07-28T02:32:11Z 0 0 0 2970 CDBP02969 Calcium-activated potassium channel subunit beta-2 Q9Y691 KCMB2_HUMAN false true Transporter Homo_sapiens KCNMB2 235 27129.4 8.47 Involved in calcium-activated potassium channel activity Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Acts as a negative regulator that confers rapid and complete inactivation of KCNMA1 channel complex. May participate in KCNMA1 inactivation in chromaffin cells of the adrenal gland or in hippocampal CA1 neurons ["None"] ["47-67", "195-215"] 1JO6 AF099137 4566497 KCNMB2 Chromosome:3 3q26.32 KCNMB2 HGNC:6286 true 2020-06-12T23:07:09Z 2020-07-28T02:32:11Z 0 0 0 2971 CDBP02970 Calcium-activated potassium channel subunit beta-3 Q9NPA1 KCMB3_HUMAN false true Transporter Homo_sapiens KCNMB3 279 31603.3 7.31 Involved in calcium-activated potassium channel activity Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Alters the functional properties of the current expressed by the KCNMA1 channel. Isoform 2, isoform 3 and isoform 4 partially inactivate the current of KCNBMA. Isoform 4 induces a fast and incomplete inactivation of KCNMA1 channel that is detectable only at large depolarizations. In contrast, isoform 1 does not induce detectable inactivation of KCNMA1. Two or more subunits of KCNMB3 are required to block the KCNMA1 tetramer ["None"] ["61-81", "208-228"] NM_014407.3 25952095 KCNMB3 Chromosome:3 3q26.3-q27 KCNMB3 HGNC:6287 true 2020-06-12T23:07:09Z 2020-07-28T02:32:11Z 0 0 0 2972 CDBP02971 Calcium-activated potassium channel subunit beta-4 Q86W47 KCMB4_HUMAN false true Transporter Homo_sapiens KCNMB4 210 23948.5 6.75 Involved in calcium-activated potassium channel activity Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Decreases the gating kinetics and calcium sensitivity of the KCNMA1 channel, but with fast deactivation kinetics. May decrease KCNMA1 channel openings at low calcium concentrations but increases channel openings at high calcium concentrations. Makes KCNMA1 channel resistant to 100 nM charybdotoxin (CTX) toxin concentrations ["None"] ["20-40", "168-188"] AF160967 7799988 KCNMB4 Chromosome:1 12q KCNMB4 HGNC:6289 true 2020-06-12T23:07:09Z 2020-07-28T02:32:11Z 0 0 0 2973 CDBP02972 Small conductance calcium-activated potassium channel protein 1 Q92952 KCNN1_HUMAN false true Transporter Homo_sapiens KCNN1 543 59986.9 9.05 Involved in calmodulin binding Forms a voltage-independent potassium channel activated by intracellular calcium. Activation is followed by membrane hyperpolarization. Thought to regulate neuronal excitability by contributing to the slow component of synaptic afterhyperpolarization. The channel is blocked by apamin ["None"] ["111-131", "140-160", "179-199", "228-248", "277-297", "346-366"] NM_002248.3 25777643 KCNN1 Chromosome:1 19p13.1 KCNN1 HGNC:6290 true 2020-06-12T23:07:09Z 2020-07-28T02:32:11Z 0 0 0 2974 CDBP02973 Small conductance calcium-activated potassium channel protein 2 Q9H2S1 KCNN2_HUMAN false true Transporter Homo_sapiens KCNN2 579 63759.0 9.99 Involved in calmodulin binding Forms a voltage-independent potassium channel activated by intracellular calcium. Activation is followed by membrane hyperpolarization. Thought to regulate neuronal excitability by contributing to the slow component of synaptic afterhyperpolarization. The channel is blocked by apamin ["None"] ["138-158", "168-188", "214-234", "256-276", "305-325", "374-394"] 1KKD AF239613 10334701 KCNN2 Chromosome:5 5q22.3 KCNN2 HGNC:6291 true 2020-06-12T23:07:09Z 2020-07-28T02:32:11Z 0 0 0 2975 CDBP02974 Small conductance calcium-activated potassium channel protein 3 Q9UGI6 KCNN3_HUMAN false true Transporter Homo_sapiens KCNN3 736 82025.3 9.25 Involved in calmodulin binding Forms a voltage-independent potassium channel activated by intracellular calcium. Activation is followed by membrane hyperpolarization. Thought to regulate neuronal excitability by contributing to the slow component of synaptic afterhyperpolarization. The channel is blocked by apamin ["None"] ["293-313", "320-340", "371-391", "410-430", "459-479", "528-548"] 1KKD NM_002249 116805330 KCNN3 Chromosome:1 1q21.3 KCNN3 HGNC:6292 true 2020-06-12T23:07:09Z 2020-07-28T02:32:11Z 0 0 0 2976 CDBP02975 Intermediate conductance calcium-activated potassium channel protein 4 O15554 KCNN4_HUMAN false true Transporter Homo_sapiens KCNN4 427 47695.1 10.39 Involved in calmodulin binding Forms a voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization which promotes calcium influx. The channel is blocked by clotrimazole and charybdotoxin but is insensitive to apamin ["None"] ["29-49", "59-79", "108-128", "143-163", "207-227", "265-285"] AF000972 KCNN4 Chromosome:1 19q13.2 KCNN4 HGNC:6293 true 2020-06-12T23:07:09Z 2020-07-28T02:32:11Z 0 0 0 2977 CDBP02976 Potassium channel subfamily T member 1 Q5JUK3 KCNT1_HUMAN false true Transporter Homo_sapiens KCNT1 1230 138341.7 7.54 Involved in calcium-activated potassium channel activity Outwardly rectifying potassium channel subunit that may co-assemble with other Slo-type channel subunits. Activated by high intracellular sodium or chloride levels. Activated upon stimulation of G-protein coupled receptors, such as CHRM1 and GRIA1. May be regulated by calcium in the absence of sodium ions (in vitro) ["None"] ["98-118", "156-176", "188-208", "214-226", "252-272", "305-325"] NM_020822 240255505 KCNT1 Chromosome:9 9q34.3 KCNT1 HGNC:18865 true 2020-06-12T23:07:09Z 2020-07-28T02:32:11Z 0 0 0 2978 CDBP02977 Potassium channel subfamily T member 2 Q6UVM3 KCNT2_HUMAN false true Transporter Homo_sapiens KCNT2 1135 130499.8 7.3 Involved in calcium-activated potassium channel activity Outward rectifying potassium channel. Produces rapidly activating outward rectifier K(+) currents. Activated by high intracellular sodium and chloride levels. Channel activity is inhibited by ATP and by inhalation anesthetics, such as isoflurane. Inhibited upon stimulation of G-protein coupled receptors, such as CHRM1 and GRIA1 ["None"] ["64-84", "102-122", "138-158", "165-185", "199-219", "257-277"] AY359444 KCNT2 Chromosome:1 1q31.3 KCNT2 HGNC:18866 true 2020-06-12T23:07:09Z 2020-07-28T02:32:11Z 0 0 0 2979 CDBP02978 Potassium channel subfamily U member 1 A8MYU2 KCNU1_HUMAN false true Transporter Homo_sapiens KCNU1 1149 129542.0 7.87 Involved in ion channel activity Testis-specific potassium channel activated by both intracellular pH and membrane voltage that mediates export of K(+). May be involved in sperm capacitation and/or the acrosome reaction, essential steps in fertilization where changes in both intracellular pH and membrane potential are known to occur. In contrast to KCNMA1/SLO1, it is not activated by Ca(2+) or Mg(2+) ["None"] ["25-45", "102-122", "139-159", "164-184", "189-209", "227-247", "292-312"] NM_001031836.2 157074214 KCNU1 Chromosome:8 8p11.23 KCNU1 HGNC:18867 true 2020-06-12T23:07:09Z 2020-07-28T02:32:11Z 0 0 0 2980 CDBP02979 KiSS-1 receptor Q969F8 KISSR_HUMAN false false Receptor Homo_sapiens KISS1R 398 42585.4 10.09 Involved in G-protein coupled receptor protein signaling pathway Receptor for metastin (kisspeptin-54 or kp-54), a C- terminally amidated peptide of KiSS1. KiSS1 is a metastasis suppressor protein that suppresses metastases in malignant melanomas and in some breast carcinomas without affecting tumorigenicity. The metastasis suppressor properties may be mediated in part by cell cycle arrest and induction of apoptosis in malignant cells. The receptor is essential for normal gonadotropin-released hormone physiology and for puberty. The hypothalamic KiSS1/KISS1R system is a pivotal factor in central regulation of the gonadotropic axis at puberty and in adulthood. The receptor is also probably involved in the regulation and fine- tuning of trophoblast invasion generated by the trophoblast itself. Analysis of the transduction pathways activated by the receptor identifies coupling to phospholipase C and intracellular calcium release through pertussis toxin-insensitive G(q) proteins ["None"] ["47-67", "79-101", "121-138", "158-178", "203-223", "264-284", "306-328"] AB051065 14041798 KISS1R Chromosome:1 19p13.3 KISS1R HGNC:4510 true 2020-06-12T23:07:09Z 2020-07-28T02:28:19Z 1 0 0 2981 CDBP02980 Klotho Q9UEF7 KLOT_HUMAN false false Receptor Homo_sapiens KL 1012 116179.815 7.967 Involved in hydrolase activity, hydrolyzing O-glycosyl compounds May have weak glycosidase activity towards glucuronylated steroids. However, it lacks essential active site Glu residues at positions 239 and 872, suggesting it may be inactive as a glycosidase in vivo. May be involved in the regulation of calcium and phosphorus homeostasis by inhibiting the synthesis of active vitamin D (By similarity). Essential factor for the specific interaction between FGF23 and FGFR1 (By similarity). The Klotho peptide generated by cleavage of the membrane-bound isoform may be an anti-aging circulating hormone which would extend life span by inhibiting insulin/IGF1 signaling (By similarity). AB005142 2618596 KL 13 13q12 KL HGNC:6344 true hsa:9365 NP_004786.2:NM_004795.3 Present in cortical renal tubules (at protein level). Soluble peptide is present in serum and cerebrospinal fluid. Expressed in kidney, placenta, small intestine and prostate. Down-regulated in renal cell carcinomas, hepatocellular carcinomas, and in chronic renal failure kidney. Homodimer . Interacts with FGF23 and FGFR1 (By similarity) 2020-06-12T23:07:09Z 2020-07-28T02:32:19Z 1 0 0 2982 CDBP02981 Phosphorylase b kinase regulatory subunit alpha, liver isoform P46019 KPB2_HUMAN true false Enzyme Homo_sapiens PHKA2 1235 138406.8 6.41 Involved in catalytic activity Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin ["None"] ["None"] AF044572 4903263 PHKA2 PHKA2 HGNC:8926 true 2020-06-12T23:07:09Z 2020-07-28T02:28:20Z 0 0 0 2983 CDBP02982 Keratinocyte proline-rich protein Q5T749 KPRP_HUMAN false false Enzyme Homo_sapiens KPRP 579 64135.2 8.29 ["None"] ["None"] AL353779 56205465 KPRP Chromosome:1 1q21.3 KPRP HGNC:31823 true 2020-06-12T23:07:10Z 2020-07-28T02:33:54Z 0 0 0 2984 CDBP02983 Lethal(2) giant larvae protein homolog 2 Q6P1M3 L2GL2_HUMAN false false Enzyme Homo_sapiens LLGL2 1020 113447.0 7.54 Involved in protein binding Part of a complex with GPSM2/LGN, PRKCI/aPKC and PARD6B/Par-6, which may ensure the correct organization and orientation of bipolar spindles for normal cell division. This complex plays roles in the initial phase of the establishment of epithelial cell polarity ["None"] ["None"] NM_001031803.1 73427803 LLGL2 Chromosome:1 17q25.1 LLGL2 HGNC:6629 true 2020-06-12T23:07:10Z 2020-07-28T02:33:54Z 0 0 0 2985 CDBP02984 Leukocyte-associated immunoglobulin-like receptor 1 Q6GTX8 LAIR1_HUMAN false false Receptor Homo_sapiens LAIR1 287 31411.8 5.37 Involved in protein binding Functions as an inhibitory receptor that plays a constitutive negative regulatory role on cytolytic function of natural killer (NK) cells, B-cells and T-cells. Activation by Tyr phosphorylation results in recruitment and activation of the phosphatases PTPN6 and PTPN11. It also reduces the increase of intracellular calcium evoked by B-cell receptor ligation. May also play its inhibitory role independently of SH2-containing phosphatases. Modulates cytokine production in CD4+ T-cells, downregulating IL2 and IFNG production while inducing secretion of transforming growth factor beta. Down-regulates also IgG and IgE production in B-cells as well as IL8, IL10 and TNF secretion. Inhibits proliferation and induces apoptosis in myeloid leukemia cell lines as well as prevents nuclear translocation of NF-kappa-B p65 subunit/RELA and phosphorylation of I-kappa-B alpha/CHUK in these cells. Inhibits the differentiation of peripheral blood precursors towards dendritic cells ["1-21"] ["166-186"] AF013249 2352941 LAIR1 Chromosome:1 19q13.4 LAIR1 HGNC:6477 true 2020-06-12T23:07:10Z 2020-07-28T02:28:20Z 1 0 0 2986 CDBP02985 Linker for activation of T-cells family member 1 O43561 LAT_HUMAN false false Enzyme Homo_sapiens LAT 262 27929.4 4.01 Involved in signal transduction Required for TCR (T-cell antigen receptor)- and pre-TCR- mediated signaling, both in mature T-cells and during their development. Involved in FCGR3 (low affinity immunoglobulin gamma Fc region receptor III)-mediated signaling in natural killer cells and FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. Couples activation of these receptors and their associated kinases with distal intracellular events such as mobilization of intracellular calcium stores, PKC activation, MAPK activation or cytoskeletal reorganization through the recruitment of PLCG1, GRB2, GRAP2, and other signaling molecules ["None"] ["5-27"] NM_014387.3 7657293 LAT Chromosome:1 16p11.2 LAT HGNC:18874 true 2020-06-12T23:07:10Z 2020-07-28T02:33:54Z 0 0 0 2987 CDBP02986 Late cornified envelope protein 2A Q5TA79 LCE2A_HUMAN false false Enzyme Homo_sapiens LCE2A 106 10846.2 7.95 Involved in keratinization Precursors of the cornified envelope of the stratum corneum ["None"] ["None"] AL139247 56204565 LCE2A Chromosome:1 1q21.3 LCE2A HGNC:29469 true 2020-06-12T23:07:10Z 2020-07-28T02:33:54Z 0 0 0 2988 CDBP02987 Late cornified envelope protein 2B O14633 LCE2B_HUMAN false false Enzyme Homo_sapiens LCE2B 110 11218.8 8.13 Involved in keratinization Precursors of the cornified envelope of the stratum corneum ["None"] ["None"] AF005080 2589188 LCE2B Chromosome:1 1q21 LCE2B HGNC:16610 true 2020-06-12T23:07:10Z 2020-07-28T02:33:54Z 0 0 0 2989 CDBP02988 Late cornified envelope protein 2C Q5TA81 LCE2C_HUMAN false false Enzyme Homo_sapiens LCE2C 110 11223.7 8.15 Involved in keratinization Precursors of the cornified envelope of the stratum ["None"] ["None"] AL139247 56204562 LCE2C Chromosome:1 1q21.3 LCE2C HGNC:29460 true 2020-06-12T23:07:10Z 2020-07-28T02:33:54Z 0 0 0 2990 CDBP02989 Late cornified envelope protein 2D Q5TA82 LCE2D_HUMAN false false Enzyme Homo_sapiens LCE2D 110 11179.7 8.13 Involved in keratinization Precursors of the cornified envelope of the stratum corneum ["None"] ["None"] AL139247 56204562 LCE2D Chromosome:1 1q21.3 LCE2D HGNC:16518 true 2020-06-12T23:07:10Z 2020-07-28T02:33:54Z 0 0 0 2991 CDBP02990 Lck-interacting transmembrane adapter 1 Q9H400 LIME1_HUMAN false false Enzyme Homo_sapiens LIME1 295 31287.4 9.99 Involved in BCR (B-cell antigen receptor)-mediated signaling in B-cells and TCR (T-cell antigen receptor)-mediated T- cell signaling in T-cells. In absence of TCR signaling, may be involved in CD4-mediated inhibition of T-cell activation. Couples activation of these receptors and their associated kinases with distal intracellular events such as calcium mobilization or MAPK activation through the recruitment of PLCG2, GRB2, GRAP2, and other signaling molecules ["None"] ["7-27"] AK000413 7020485 LIME1 Chromosome:2 20q13.3 LIME1 HGNC:26016 true 2020-06-12T23:07:10Z 2020-07-28T02:33:54Z 0 0 0 2992 CDBP02991 Protein lin-7 homolog B Q9HAP6 LIN7B_HUMAN false false Enzyme Homo_sapiens LIN7B 207 22895.9 9.01 Involved in protein binding Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may function in localizing synaptic vesicles at synapses where it is recruited by beta-catenin and cadherin. Required to localize Kir2 channels, GABA transporter (SLC6A12) and EGFR/ERBB1, ERBB2, ERBB3 and ERBB4 to the basolateral membrane of epithelial cells. May increase the amplitude of ACCN3 acid-evoked currents by stabilizing the channel at the cell surface ["None"] ["None"] 1Y74 AF311862 11321325 LIN7B Chromosome:1 19q13.3 LIN7B HGNC:17788 true 2020-06-12T23:07:10Z 2020-07-28T02:33:54Z 0 0 0 2993 CDBP02992 Protein lin-7 homolog C Q9NUP9 LIN7C_HUMAN false false Enzyme Homo_sapiens LIN7C 197 21833.8 8.7 Involved in protein binding Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may function in localizing synaptic vesicles at synapses where it is recruited by beta-catenin and cadherin. Required to localize Kir2 channels, GABA transporter (SLC6A12) and EGFR/ERBB1, ERBB2, ERBB3 and ERBB4 to the basolateral membrane of epithelial cells ["None"] ["None"] AK002077 7023741 LIN7C Chromosome:1 11p14 LIN7C HGNC:17789 true 2020-06-12T23:07:10Z 2020-07-28T02:33:54Z 0 0 0 2994 CDBP02993 Liprin-beta-1 Q86W92 LIPB1_HUMAN false false Enzyme Homo_sapiens PPFIBP1 1011 114023.1 5.22 Replication, recombination and repair May regulate the disassembly of focal adhesions. Did not bind receptor-like tyrosine phosphatases type 2A ["None"] ["None"] NM_177444.2 312032469 PPFIBP1 Chromosome:1 12p12.1 PPFIBP1 HGNC:9249 true 2020-06-12T23:07:10Z 2020-07-28T02:33:54Z 0 0 0 2995 CDBP02994 Leukocyte immunoglobulin-like receptor subfamily B member 1 Q8NHL6 LIRB1_HUMAN false false Receptor Homo_sapiens LILRB1 650 70818.8 5.95 Involved in protein phosphatase 1 binding Receptor for class I MHC antigens. Recognizes a broad spectrum of HLA-A, HLA-B, HLA-C and HLA-G alleles. Receptor for H301/UL18, a human cytomegalovirus class I MHC homolog. Ligand binding results in inhibitory signals and down-regulation of the immune response. Engagement of LILRB1 present on natural killer cells or T-cells by class I MHC molecules protects the target cells from lysis. Interaction with HLA-B or HLA-E leads to inhibition of the signal triggered by FCER1A and inhibits serotonin release. Inhibits FCGR1A-mediated phosphorylation of cellular proteins and mobilization of intracellular calcium ions ["1-23"] ["462-482"] 1UGN NM_006669.3 116488411 LILRB1 Chromosome:1 19q13.4 LILRB1 HGNC:6605 true 2020-06-12T23:07:10Z 2020-07-28T02:28:20Z 1 0 0 2996 CDBP02995 Leukocyte immunoglobulin-like receptor subfamily B member 2 Q8N423 LIRB2_HUMAN false false Receptor Homo_sapiens LILRB2 598 65133.1 7.22 Involved in receptor activity Receptor for class I MHC antigens. Recognizes a broad spectrum of HLA-A, HLA-B, HLA-C and HLA-G alleles. Involved in the down-regulation of the immune response and the development of tolerance. Competes with CD8A for binding to class I MHC antigens. Inhibits FCGR1A-mediated phosphorylation of cellular proteins and mobilization of intracellular calcium ions ["1-21"] ["462-482"] NM_005874.3 125988400 LILRB2 Chromosome:1 19q13.4 LILRB2 HGNC:6606 true 2020-06-12T23:07:10Z 2020-07-28T02:28:20Z 1 0 0 2997 CDBP02996 Leukocyte immunoglobulin-like receptor subfamily B member 4 Q8NHJ6 LIRB4_HUMAN false false Receptor Homo_sapiens LILRB4 448 49297.1 6.76 Involved in antigen binding Receptor for class I MHC antigens. Recognizes a broad spectrum of HLA-A, HLA-B, HLA-C and HLA-G alleles. Involved in the down-regulation of the immune response and the development of tolerance, e.g. towards transplants. Interferes with TNFRSF5- signaling and NF-kappa-B up-regulation. Inhibits receptor-mediated phosphorylation of cellular proteins and mobilization of intracellular calcium ions ["1-21"] ["260-280"] NM_006847.3 125987585 LILRB4 Chromosome:1 19q13.4 LILRB4 HGNC:6608 true 2020-06-12T23:07:10Z 2020-07-28T02:28:20Z 1 0 0 2998 CDBP02997 Vesicular integral-membrane protein VIP36 Q12907 LMAN2_HUMAN false false Enzyme Homo_sapiens LMAN2 356 40228.4 6.95 Involved in sugar binding Plays a role as an intracellular lectin in the early secretory pathway. Interacts with N-acetyl-D-galactosamine and high-mannose type glycans and may also bind to O-linked glycans. Involved in the transport and sorting of glycoproteins carrying high mannose-type glycans ["1-44"] ["323-345"] AK222609 62896777 LMAN2 Chromosome:5 5q35.3 LMAN2 HGNC:16986 true 2020-06-12T23:07:10Z 2020-07-28T02:33:54Z 0 0 0 2999 CDBP02998 Latrophilin-1 O94910 LPHN1_HUMAN false false Receptor Homo_sapiens LPHN1 1474 162715.4 6.57 Involved in transmembrane receptor activity Calcium-independent receptor of high affinity for alpha- latrotoxin, an excitatory neurotoxin present in black widow spider venom which triggers massive exocytosis from neurons and neuroendocrine cells. Receptor propably implicated in the regulation of exocytosis ["1-24"] ["859-879", "894-914", "921-941", "965-985", "1003-1023", "1051-1071", "1076-1096"] NM_001008701.2 57165355 LPHN1 Chromosome:1 19p13.2 LPHN1 HGNC:20973 true 2020-06-12T23:07:10Z 2020-07-28T02:32:19Z 1 0 0 3000 CDBP02999 Latrophilin-2 O95490 LPHN2_HUMAN false false Receptor Homo_sapiens LPHN2 1459 163347.4 6.39 Involved in transmembrane receptor activity Calcium-independent receptor of low affinity for alpha- latrotoxin, an excitatory neurotoxin present in black widow spider venom which triggers massive exocytosis from neurons and neuroendocrine cells. Receptor propably implicated in the regulation of exocytosis ["1-25"] ["852-872", "881-901", "908-928", "953-973", "991-1011", "1038-1058", "1063-1083"] NM_012302 6912464 LPHN2 Chromosome:1 1p31.1 LPHN2 HGNC:18582 true 2020-06-12T23:07:10Z 2020-07-28T02:32:19Z 1 0 0 3001 CDBP03000 Prolow-density lipoprotein receptor-related protein 1 Q07954 LRP1_HUMAN false false Receptor Homo_sapiens LRP1 4544 504570.7 5.02 Involved in calcium ion binding Endocytic receptor involved in endocytosis and in phagocytosis of apoptotic cells. Required for early embryonic development. Involved in cellular lipid homeostasis. Involved in the plasma clearance of chylomicron remnants and activated LRPAP1 (alpha 2-macroglobulin), as well as the local metabolism of complexes between plasminogen activators and their endogenous inhibitors. May modulate cellular events, such as APP metabolism, kinase-dependent intracellular signaling, neuronal calcium signaling as well as neurotransmission ["1-19"] ["4420-4444"] X13916 34339 LRP1 Chromosome:1 12q13-q14 LRP1 HGNC:6692 true 2020-06-12T23:07:10Z 2020-07-28T02:28:21Z 1 1 0 3002 CDBP03001 Low-density lipoprotein receptor-related protein 5 O75197 LRP5_HUMAN false false Receptor Homo_sapiens LRP5 1615 179142.6 4.95 Involved in receptor activity Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor- ligand complexes into ribosome-sized signalsomes. Cell-surface coreceptor of Wnt/beta-catenin signaling, which plays a pivotal role in bone formation. The Wnt-induced Fzd/LRP6 coreceptor complex recruits DVL1 polymers to the plasma membrane which, in turn, recruits the AXIN1/GSK3B-complex to the cell surface promoting the formation of signalsomes and inhibiting AXIN1/GSK3- mediated phosphorylation and destruction of beta-catenin. Appears be required for postnatal control of vascular regression in the eye. Required for posterior patterning of the epiblast during gastrulation ["1-31"] ["1385-1407"] AB017498 3582145 LRP5 Chromosome:1 11q13.4 LRP5 HGNC:6697 true 2020-06-12T23:07:10Z 2020-07-28T02:28:21Z 1 0 0 3003 CDBP03002 Leukotriene B4 receptor 2 Q9NPC1 LT4R2_HUMAN false false Receptor Homo_sapiens LTB4R2 389 41524.3 11.49 Involved in G-protein coupled receptor protein signaling pathway Low-affinity receptor for leukotrienes including leukotriene B4. Mediates chemotaxis of granulocytes and macrophages. The response is mediated via G-proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of affinities for the leukotrienes is LTB4 > 12-epi-LTB4 > LTB5 > LTB3 ["None"] ["56-76", "92-112", "128-148", "173-193", "217-237", "257-277", "307-327"] AF277230 57157113 LTB4R2 Chromosome:1 14q11.2-q12 LTB4R2 HGNC:19260 true 2020-06-12T23:07:10Z 2020-07-28T02:28:21Z 1 0 0 3004 CDBP03003 Mannan-binding lectin serine protease 2 O00187 MASP2_HUMAN true false Enzyme Homo_sapiens MASP2 686 75732.7 5.56 Involved in calcium ion binding Serum protease that plays an important role in the activation of the complement system via mannose-binding lectin. After activation by auto-catalytic cleavage it cleaves C2 and C4, leading to their activation and to the formation of C3 convertase ["1-15"] ["None"] 1Q3X Y09926 4007627 MASP2 Chromosome:1 1p36.3-p36.2 MASP2 HGNC:6902 true 2020-06-12T23:07:10Z 2020-07-28T02:28:21Z 0 1 0 3005 CDBP03004 Multiple coagulation factor deficiency protein 2 Q8NI22 MCFD2_HUMAN false false Metal Binding Homo_sapiens MCFD2 146 16390.2 4.25 Involved in calcium ion binding The MCFD2-LMAN1 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins. Plays a role in the secretion of coagulation factors ["1-26"] ["None"] AC016722 62822465 MCFD2 Chromosome:2 2p21 MCFD2 HGNC:18451 true 2020-06-12T23:07:10Z 2020-07-28T02:32:01Z 0 1 0 3006 CDBP03005 Multiple C2 and transmembrane domain-containing protein 1 Q6DN14 MCTP1_HUMAN false false Enzyme Homo_sapiens MCTP1 999 111623.2 8.26 Involved in calcium ion binding ["None"] ["811-831", "914-934"] NM_024717.4 205361109 MCTP1 Chromosome:5 5q15 MCTP1 HGNC:26183 true 2020-06-12T23:07:10Z 2020-07-28T02:33:54Z 0 0 0 3007 CDBP03006 Multiple C2 and transmembrane domain-containing protein 2 Q6DN12 MCTP2_HUMAN false false Enzyme Homo_sapiens MCTP2 878 99594.4 7.62 Involved in calcium ion binding ["None"] ["697-717", "802-822"] NM_018349.3 227496440 MCTP2 Chromosome:1 15q26.2 MCTP2 HGNC:25636 true 2020-06-12T23:07:10Z 2020-07-28T02:33:54Z 0 0 0 3008 CDBP03007 Microfibril-associated glycoprotein 4 P55083 MFAP4_HUMAN false false Receptor Homo_sapiens MFAP4 255 28648.0 5.31 Involved in receptor binding Could be involved in calcium-dependent cell adhesion or intercellular interactions ["1-21"] ["None"] AK293056 158259573 MFAP4 Chromosome:1 17p11.2 MFAP4 HGNC:7035 true 2020-06-12T23:07:10Z 2020-07-28T02:32:19Z 1 0 0 3009 CDBP03008 Magnesium-dependent phosphatase 1 Q86V88 MGDP1_HUMAN true false Enzyme Homo_sapiens MDP1 176 14037.655 5.805 Involved in metal ion binding Magnesium-dependent phosphatase which may act as a tyrosine phosphatase (By similarity). 2WM8 NM_138476.2 33457311 MDP1 14 14q12 MDP1 HGNC:28781 true hsa:145553 NP_001186750.1:NM_001199821.1;NP_612485.2:NM_138476.3 Magnesium 2020-06-12T23:07:10Z 2020-07-28T02:28:21Z 0 1 0 3010 CDBP03009 Mitochondrial intermediate peptidase Q99797 MIPEP_HUMAN true false Enzyme Homo_sapiens MIPEP 713 80639.9 7.04 Involved in metalloendopeptidase activity Cleaves proteins, imported into the mitochondrion, to their mature size ["None"] ["None"] AK291923 158257278 MIPEP Chromosome:1 13q12 MIPEP HGNC:7104 true 2020-06-12T23:07:10Z 2020-07-28T02:28:21Z 0 0 0 3011 CDBP03010 Cytokine-dependent hematopoietic cell linker Q7Z7G1 CLNK_HUMAN false false Enzyme Homo_sapiens CLNK 428 49553.6 9.44 Involved in protein binding Plays a role in the regulation of immunoreceptor signaling, including PLC-gamma-mediated B-cell antigen receptor (BCR) signaling and FC-epsilon R1-mediated mast cell degranulation. Involved in phosphorylation of LAT ["None"] ["None"] NM_052964.2 193083221 CLNK Chromosome:4 4p16.1 CLNK HGNC:17438 true 2020-06-12T23:07:10Z 2020-07-28T02:33:54Z 0 0 0 3012 CDBP03011 Myosin light chain 1/3, skeletal muscle isoform P05976 MYL1_HUMAN false false Metal Binding Homo_sapiens MYL1 194 21144.9 4.68 Involved in calcium ion binding Regulatory light chain of myosin. Does not bind calcium ["None"] ["None"] NM_079420.2 17986273 MYL1 Chromosome:2 2q33-q34 MYL1 HGNC:7582 true 2020-06-12T23:07:10Z 2020-07-28T02:32:01Z 0 1 0 3013 CDBP03012 Myosin regulatory light chain 2, atrial isoform Q01449 MLRA_HUMAN false false Metal Binding Homo_sapiens MYL7 175 19447.9 4.51 Involved in calcium ion binding ["None"] ["None"] AK311869 189053188 MYL7 Chromosome:7 7p21-p11.2 MYL7 HGNC:21719 true 2020-06-12T23:07:10Z 2020-07-28T02:32:01Z 0 1 0 3014 CDBP03013 Myosin regulatory light chain 2, skeletal muscle isoform Q96A32 MLRS_HUMAN false false Metal Binding Homo_sapiens MYLPF 169 19014.4 4.62 Involved in calcium ion binding ["None"] ["None"] AF363061 14029704 MYLPF Chromosome:1 16p11.2 MYLPF HGNC:29824 true 2020-06-12T23:07:10Z 2020-07-28T02:32:01Z 0 1 0 3015 CDBP03014 Myosin regulatory light chain 2, ventricular/cardiac muscle isoform P10916 MLRV_HUMAN false false Metal Binding Homo_sapiens MYL2 166 18789.2 4.63 Involved in calcium ion binding ["None"] ["None"] AF020768 2460247 MYL2 Chromosome:1 12q24.11 MYL2 HGNC:7583 true 2020-06-12T23:07:10Z 2020-07-28T02:32:01Z 0 1 0 3016 CDBP03015 Stromelysin-2 P09238 MMP10_HUMAN false false Metal Binding Homo_sapiens MMP10 476 54150.7 5.59 Involved in metalloendopeptidase activity Can degrade fibronectin, gelatins of type I, III, IV, and V; weakly collagens III, IV, and V. Activates procollagenase ["1-17"] ["None"] X07820 36629 MMP10 Chromosome:1 11q22.3 MMP10 HGNC:7156 true 2020-06-12T23:07:10Z 2020-07-28T02:32:01Z 0 1 0 3017 CDBP03016 Stromelysin-3 P24347 MMP11_HUMAN false false Metal Binding Homo_sapiens MMP11 488 54617.5 6.87 Involved in metalloendopeptidase activity May play an important role in the progression of epithelial malignancies ["1-31"] ["None"] 1HV5 X57766 456257 MMP11 Chromosome:2 22q11.2|22q11.23 MMP11 HGNC:7157 true 2020-06-12T23:07:10Z 2020-07-28T02:32:01Z 0 1 0 3018 CDBP03017 Macrophage metalloelastase P39900 MMP12_HUMAN true false Enzyme Homo_sapiens MMP12 470 54001.2 8.98 Involved in metalloendopeptidase activity May be involved in tissue injury and remodeling. Has significant elastolytic activity. Can accept large and small amino acids at the P1' site, but has a preference for leucine. Aromatic or hydrophobic residues are preferred at the P1 site, with small hydrophobic residues (preferably alanine) occupying P3 ["1-16"] ["None"] AK313959 MMP12 Chromosome:1 11q22.3 MMP12 HGNC:7158 true 2020-06-12T23:07:10Z 2020-07-28T02:28:22Z 0 1 0 3019 CDBP03018 Matrix metalloproteinase-15 P51511 MMP15_HUMAN true false Enzyme Homo_sapiens MMP15 669 75806.4 7.49 Involved in metalloendopeptidase activity Endopeptidase that degrades various components of the extracellular matrix. May activate progelatinase A ["1-41"] ["626-646"] Z48482 963056 MMP15 Chromosome:1 16q13 MMP15 HGNC:7161 true 2020-06-12T23:07:10Z 2020-07-28T02:28:22Z 0 1 0 3020 CDBP03019 Matrix metalloproteinase-16 P51512 MMP16_HUMAN true false Enzyme Homo_sapiens MMP16 607 69521.0 8.74 Involved in metalloendopeptidase activity Endopeptidase that degrades various components of the extracellular matrix, such as collagen type III and fibronectin. Activates progelatinase A. Involved in the matrix remodeling of blood vessels. Isoform short cleaves fibronectin and also collagen type III, but at lower rate. It has no effect on type I, II, IV and V collagen. However, upon interaction with CSPG4, it may be involved in degradation and invasion of type I collagen by melanoma cells ["1-31"] ["565-585"] 1RM8 AB009303 2662306 MMP16 Chromosome:8 8q21.3 MMP16 HGNC:7162 true 2020-06-12T23:07:10Z 2020-07-28T02:28:22Z 0 1 0 3021 CDBP03020 Matrix metalloproteinase-17 Q9ULZ9 MMP17_HUMAN true false Enzyme Homo_sapiens MMP17 603 66652.2 6.55 Involved in metalloendopeptidase activity Endopeptidase that degrades various components of the extracellular matrix, such as fibrin. May be involved in the activation of membrane-bound precursors of growth factors or inflammatory mediators, such as tumor necrosis factor-alpha. May also be involved in tumoral process. Not obvious if able to proteolytically activate progelatinase A. Does not hydrolyze collagen types I, II, III, IV and V, gelatin, fibronectin, laminin, decorin nor alpha1-antitrypsin ["1-35"] ["None"] NM_016155.4 112382270 MMP17 Chromosome:1 12q24.3 MMP17 HGNC:7163 true 2020-06-12T23:07:10Z 2020-07-28T02:28:22Z 0 1 0 3022 CDBP03021 Matrix metalloproteinase-19 Q99542 MMP19_HUMAN true false Enzyme Homo_sapiens MMP19 508 57356.6 7.67 Involved in metalloendopeptidase activity Endopeptidase that degrades various components of the extracellular matrix, such as aggrecan and cartilage oligomeric matrix protein (comp), during development, haemostasis and pathological conditions (arthritic disease). May also play a role in neovascularization or angiogenesis. Hydrolyzes collagen type IV, laminin, nidogen, nascin-C isoform, fibronectin, and type I gelatin ["1-18"] ["None"] Y08622 1702930 MMP19 Chromosome:1 12q14 MMP19 HGNC:7165 true 2020-06-12T23:07:10Z 2020-07-28T02:28:22Z 0 1 0 3023 CDBP03022 Matrix metalloproteinase-21 Q8N119 MMP21_HUMAN true false Enzyme Homo_sapiens MMP21 569 65014.8 9.42 Involved in metalloendopeptidase activity May have an important and specific function in tumor progression and embryogenesis. Cleaves alpha-1-antitrypsin ["1-24"] ["None"] AF331526 22134532 MMP21 Chromosome:1 10q26.13 MMP21 HGNC:14357 true 2020-06-12T23:07:10Z 2020-07-28T02:28:22Z 0 1 0 3024 CDBP03023 Matrix metalloproteinase-24 Q9Y5R2 MMP24_HUMAN true false Enzyme Homo_sapiens MMP24 645 73230.9 9.58 Involved in metalloendopeptidase activity Activates progelatinase A. May also be a proteoglycanase involved in degradation of proteoglycans, such as dermatan sulfate and chondroitin sulfate proteoglycans. Cleaves partially fibronectin, but not collagen type I, nor laminin ["1-52"] ["603-623"] AF131284 5381386 MMP24 Chromosome:2 20q11.2 MMP24 HGNC:7172 true 2020-06-12T23:07:10Z 2020-07-28T02:28:22Z 0 1 0 3025 CDBP03024 Matrix metalloproteinase-25 Q9NPA2 MMP25_HUMAN true false Enzyme Homo_sapiens MMP25 562 62553.4 8.72 Involved in metalloendopeptidase activity May activate progelatinase A ["1-21"] ["None"] AJ239053 8546817 MMP25 Chromosome:1 16p13.3 MMP25 HGNC:14246 true 2020-06-12T23:07:10Z 2020-07-28T02:28:22Z 0 1 0 3026 CDBP03025 Matrix metalloproteinase-26 Q9NRE1 MMP26_HUMAN true false Enzyme Homo_sapiens MMP26 261 29708.3 6.45 Involved in metalloendopeptidase activity May hydrolyze collagen type IV, fibronectin, fibrinogen, beta-casein, type I gelatin and alpha-1 proteinase inhibitor. Is also able to activates progelatinase B ["1-17"] ["None"] AF230354 8843950 MMP26 Chromosome:1 11p15 MMP26 HGNC:14249 true 2020-06-12T23:07:10Z 2020-07-28T02:28:23Z 0 1 0 3027 CDBP03026 Matrix metalloproteinase-27 Q9H306 MMP27_HUMAN true false Enzyme Homo_sapiens MMP27 513 59025.4 8.95 Involved in metalloendopeptidase activity Matrix metalloproteinases degrade protein components of the extracellular matrix such as fibronectin, laminin, gelatins and/or collagens ["1-17"] ["None"] AF195192 11066090 MMP27 Chromosome:1 11q24 MMP27 HGNC:14250 true 2020-06-12T23:07:10Z 2020-07-28T02:28:23Z 0 1 0 3028 CDBP03027 Matrix metalloproteinase-28 Q9H239 MMP28_HUMAN true false Enzyme Homo_sapiens MMP28 520 58938.5 10.07 Involved in metalloendopeptidase activity Can degrade casein. Could play a role in tissues homeostasis and repair ["1-22"] ["None"] AF315683 11935132 MMP28 Chromosome:1 17q21.1 MMP28 HGNC:14366 true 2020-06-12T23:07:10Z 2020-07-28T02:28:23Z 0 1 0 3029 CDBP03028 Neutrophil collagenase P22894 MMP8_HUMAN true false Enzyme Homo_sapiens MMP8 467 53411.7 6.86 Involved in metalloendopeptidase activity Can degrade fibrillar type I, II, and III collagens ["1-20"] ["None"] J05556 MMP8 Chromosome:1 11q22.3 MMP8 HGNC:7175 true 2020-06-12T23:07:10Z 2020-07-28T02:28:23Z 0 1 0 3030 CDBP03029 C-type mannose receptor 2 Q9UBG0 MRC2_HUMAN false false Receptor Homo_sapiens MRC2 1479 166654.2 5.64 Involved in sugar binding May play a role as endocytotic lectin receptor displaying calcium-dependent lectin activity. Internalizes glycosylated ligands from the extracellular space for release in an endosomal compartment via clathrin-mediated endocytosis. May be involved in plasminogen activation system controlling the extracellular level of PLAUR/PLAU, and thus may regulate protease activity at the cell surface. May contribute to cellular uptake, remodeling and degradation of extracellular collagen matrices. May play a role during cancer progression as well as in other chronic tissue destructive diseases acting on collagen turnover. May participate in remodeling of extracellular matrix co-operating with the matrix metalloproteinases (MMPs) ["1-30"] ["1415-1435"] NM_006039.3 110624774 MRC2 Chromosome:1 17q23.2 MRC2 HGNC:16875 true 2020-06-12T23:07:10Z 2020-07-28T02:28:23Z 1 0 0 3031 CDBP03030 Mas-related G-protein coupled receptor member X1 Q96LB2 MRGX1_HUMAN false false Receptor Homo_sapiens MRGPRX1 322 36249.6 7.57 Involved in G-protein coupled receptor protein signaling pathway Orphan receptor. Probably involved in the function of nociceptive neurons. May regulate nociceptor function and/or development, including the sensation or modulation of pain. Potently activated by enkephalins including BAM22 (bovine adrenal medulla peptide 22) and BAM (8-22). BAM22 is the most potent compound and evoked a large and dose-dependent release of intracellular calcium in stably transfected cells. G(alpha)q proteins are involved in the calcium-signaling pathway. Activated by the antimalarial drug, chloroquine. May mediate chloroquine- induced itch, in an histamine-independent manner ["None"] ["32-52", "68-88", "97-117", "145-165", "178-198", "222-242", "255-275"] AB065846 21928957 MRGPRX1 Chromosome:1 11p15.1|11 MRGPRX1 HGNC:17962 true 2020-06-12T23:07:10Z 2020-07-28T02:28:23Z 1 0 0 3032 CDBP03031 Myosin regulatory light chain 12B O14950 ML12B_HUMAN false false Metal Binding Homo_sapiens MYL12B 172 19779.0 4.44 Involved in calcium ion binding Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Phosphorylation triggers actin polymerization in vascular smooth muscle. Implicated in cytokinesis, receptor capping, and cell locomotion ["None"] ["None"] AB046614 15076511 MYL12B Chromosome:1 18p11.31 MYL12B HGNC:29827 true 2020-06-12T23:07:10Z 2020-07-28T02:32:01Z 0 1 0 3033 CDBP03032 Protein MRVI1 Q9Y6F6 MRVI1_HUMAN false false Enzyme Homo_sapiens MRVI1 885 96144.2 5.29 Play a role as NO/PRKG1-dependent regulator of IP3- induced calcium release; its phosphorylation by PRKG1 inhibits bradykinin and IP3-induced calcium release from intracellular stores. Recruits PRKG1 to the endoplasmic reticulum and may mediate the assembly of PRKG1 and ITPR1 in a macrocomplex. Involved in PRKG1 signaling cascade leading to inhibition of platelet activation and aggregation. Mediates also NO-dependent inhibition of calcium signaling in gastrointestinal smooth muscle contributing to NO-dependent relaxation ["None"] ["825-845"] 148728182 MRVI1 Chromosome:1 11p15 MRVI1 HGNC:7237 true 2020-06-12T23:07:10Z 2020-07-28T02:33:55Z 0 0 0 3034 CDBP03033 Cell surface glycoprotein MUC18 P43121 MUC18_HUMAN false false Enzyme Homo_sapiens MCAM 646 71606.9 5.5 Involved in anatomical structure morphogenesis Plays a role in cell adhesion, and in cohesion of the endothelial monolayer at intercellular junctions in vascular tissue. Its expression may allow melanoma cells to interact with cellular elements of the vascular system, thereby enhancing hematogeneous tumor spread. Could be an adhesion molecule active in neural crest cells during embryonic development. Acts as surface receptor that triggers tyrosine phosphorylation of FYN and PTK2, and a transient increase in the intracellular calcium concentration ["1-23"] ["560-583"] NM_006500.2 71274107 MCAM Chromosome:1 11q23.3 MCAM HGNC:6934 true 2020-06-12T23:07:10Z 2020-07-28T02:33:55Z 0 0 0 3035 CDBP03034 Cadherin-related family member 5 Q9HBB8 CDHR5_HUMAN false false Metal Binding Homo_sapiens CDHR5 845 88222.8 4.56 Involved in calcium ion binding Acts as a calcium-dependent cell adhesion protein ["1-25"] ["670-690"] AF258674 10334770 CDHR5 Chromosome:1 11p15.5 CDHR5 HGNC:7521 true 2020-06-12T23:07:10Z 2020-07-28T02:32:01Z 0 1 0 3036 CDBP03035 Myosin light chain 3 P08590 MYL3_HUMAN false false Metal Binding Homo_sapiens MYL3 195 21931.9 4.75 Involved in calcium ion binding Regulatory light chain of myosin. Does not bind calcium ["None"] ["None"] AF174483 9651188 MYL3 Chromosome:3 3p21.3-p21.2 MYL3 HGNC:7584 true 2020-06-12T23:07:10Z 2020-07-28T02:32:01Z 0 1 0 3037 CDBP03036 Myosin light chain 4 P12829 MYL4_HUMAN false false Metal Binding Homo_sapiens MYL4 197 21564.4 4.69 Involved in calcium ion binding Regulatory light chain of myosin. Does not bind calcium ["None"] ["None"] NM_001002841.1 50845428 MYL4 Chromosome:1 17q21-qter MYL4 HGNC:7585 true 2020-06-12T23:07:10Z 2020-07-28T02:32:01Z 0 1 0 3038 CDBP03037 Myosin light chain 5 Q02045 MYL5_HUMAN false false Metal Binding Homo_sapiens MYL5 173 19533.8 4.57 Involved in calcium ion binding ["None"] ["None"] NM_002477.1 4505305 MYL5 Chromosome:4 4p16.3 MYL5 HGNC:7586 true 2020-06-12T23:07:10Z 2020-07-28T02:32:01Z 0 1 0 3039 CDBP03038 Myosin light polypeptide 6 P60660 MYL6_HUMAN false false Metal Binding Homo_sapiens MYL6 151 16930.0 4.29 Involved in calcium ion binding Regulatory light chain of myosin. Does not bind calcium ["None"] ["None"] AB046613 15076509 MYL6 Chromosome:1 12q13.2 MYL6 HGNC:7587 true 2020-06-12T23:07:10Z 2020-07-28T02:32:01Z 0 1 0 3040 CDBP03039 Myosin light chain 6B P14649 MYL6B_HUMAN false false Metal Binding Homo_sapiens MYL6B 208 22763.9 5.44 Involved in calcium ion binding Regulatory light chain of myosin. Does not bind calcium ["None"] ["None"] 1W7J BC012425 15214600 MYL6B Chromosome:1 12q13.13 MYL6B HGNC:29823 true 2020-06-12T23:07:10Z 2020-07-28T02:32:01Z 0 1 0 3041 CDBP03040 Myosin regulatory light polypeptide 9 P24844 MYL9_HUMAN false false Metal Binding Homo_sapiens MYL9 172 19827.0 4.54 Involved in calcium ion binding Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Implicated in cytokinesis, receptor capping, and cell locomotion ["None"] ["None"] AL050318 6983729 MYL9 Chromosome:2 20q11.23 MYL9 HGNC:15754 true 2020-06-12T23:07:10Z 2020-07-28T02:32:01Z 0 1 0 3042 CDBP03041 Myosin regulatory light chain 10 Q9BUA6 MYL10_HUMAN false false Metal Binding Homo_sapiens MYL10 226 25307.7 5.43 Involved in calcium ion binding ["None"] ["None"] BC002778 33877163 MYL10 Chromosome:7 7q22.1 MYL10 HGNC:29825 true 2020-06-12T23:07:10Z 2020-07-28T02:32:01Z 0 1 0 3043 CDBP03042 Myosin-VI Q9UM54 MYO6_HUMAN false false Enzyme Homo_sapiens MYO6 1294 149689.8 8.72 Involved in motor activity Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Myosin 6 is a reverse-direction motor protein that moves towards the minus-end of actin filaments. Has slow rate of actin-activated ADP release due to weak ATP binding. Functions in a variety of intracellular processes such as vesicular membrane trafficking and cell migration. Required for the structural integrity of the Golgi apparatus via the p53-dependent pro-survival pathway. Appears to be involved in a very early step of clathrin-mediated endocytosis in polarized epithelial cells. May act as a regulator of F-actin dynamics. May play a role in transporting DAB2 from the plasma membrane to specific cellular targets. Required for structural integrity of inner ear hair cells ["None"] ["None"] 92859701 MYO6 Chromosome:6 6q13 MYO6 HGNC:7605 true 2020-06-12T23:07:10Z 2020-07-28T02:33:55Z 0 0 0 3044 CDBP03043 Myosin-IXb Q13459 MYO9B_HUMAN false false Enzyme Homo_sapiens MYO9B 2158 243556.0 9.0 Involved in motor activity Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. May be involved in the remodeling of the actin cytoskeleton. Binds actin with high affinity both in the absence and presence of ATP and its mechanochemical activity is inhibited by calcium ions. Also acts as a GTPase activating protein on Rho ["None"] ["None"] NM_004145 33356170 MYO9B Chromosome:1 19p13.1 MYO9B HGNC:7609 true 2020-06-12T23:07:10Z 2020-07-28T02:33:55Z 0 0 0 3045 CDBP03044 NKG2D ligand 1 Q9BZM6 N2DL1_HUMAN false false Enzyme Homo_sapiens ULBP1 244 27996.4 7.48 Involved in immune response Ligand for the NKG2D receptor, together with at least ULBP2 and ULBP3. ULBPs activate multiple signaling pathways in primary NK cells, resulting in the production of cytokines and chemokines. Binding of ULBPs ligands to NKG2D induces calcium mobilization and activation of the JAK2, STAT5, ERK and PI3K kinase/Akt signal transduction pathway. In CMV infected cells, interacts with soluble CMV glycoprotein UL16. The interaction with UL16 blocked the interaction with the NKG2D receptor, providing a mechanism by which CMV infected cells might escape the immune system. UL16 also causes ULBP1 to be retained in the ER and cis- Golgi apparatus so that it does not reach the cell surface ["1-25"] ["None"] AB052907 14530665 ULBP1 Chromosome:6 6q25 ULBP1 HGNC:14893 true 2020-06-12T23:07:10Z 2020-07-28T02:33:55Z 0 0 0 3046 CDBP03045 NKG2D ligand 2 Q9BZM5 N2DL2_HUMAN false false Enzyme Homo_sapiens ULBP2 246 27367.6 7.34 Involved in immune response Ligand for the NKG2D receptor, together with at least ULBP1 and ULBP3. ULBPs activate multiple signaling pathways in primary NK cells, resulting in the production of cytokines and chemokines. Binding of ULBPs ligands to NKG2D induces calcium mobilization and activation of the JAK2, STAT5, ERK and PI3K kinase/Akt signal transduction pathway. In CMV infected cells, interacts with soluble CMV glycoprotein UL16. The interaction with UL16 blocked the interaction with the NKG2D receptor, providing a mechanism by which CMV infected cells might escape the immune system. UL16 also causes ULBP2 to be retained in the ER and cis- Golgi apparatus so that it does not reach the cell surface ["1-25"] ["None"] AB052906 14530663 ULBP2 Chromosome:6 6q25 ULBP2 HGNC:14894 true 2020-06-12T23:07:10Z 2020-07-28T02:33:55Z 0 0 0 3047 CDBP03046 NKG2D ligand 3 Q9BZM4 N2DL3_HUMAN false false Enzyme Homo_sapiens ULBP3 244 27949.0 8.13 Involved in immune response Ligand for the NKG2D receptor, together with at least ULBP1 and ULBP2. ULBPs activate multiple signaling pathways in primary NK cells, resulting in the production of cytokines and chemokines. Binding of ULBPs ligands to NKG2D induces calcium mobilization and activation of the JAK2, STAT5, ERK and PI3K kinase/Akt signal transduction pathway. Has lower affinity for NKG2D compared to ULBP1 and ULBP2 and induces weaker signaling responses than does ULBP2 or ULBP1 ["1-29"] ["None"] 1KCG AB052908 14530667 ULBP3 Chromosome:6 6q25 ULBP3 HGNC:14895 true 2020-06-12T23:07:10Z 2020-07-28T02:33:55Z 0 0 0 3048 CDBP03047 Sodium leak channel non-selective protein Q8IZF0 NALCN_HUMAN false true Transporter Homo_sapiens NALCN 1738 200329.6 8.84 Involved in ion channel activity Voltage-independent, cation-nonselective channel which is permeable to sodium, potassium and calcium ions. Responsible for the background sodium ion leak current in neurons and controls neuronal excitability. Activated either by neuropeptides substance P or neurotensin. Required for normal respiratory rhythm and neonatal survival ["None"] ["41-61", "67-87", "107-127", "139-158", "183-203", "302-322", "383-403", "423-443", "449-468", "477-500", "510-530", "579-599", "881-901", "924-944", "953-973", "980-997", "1016-1036", "1136-1156", "1210-1227", "1236-1256", "1278-1298", "1300-1316", "1336-1356", "1427-1447"] NM_052867.2 24119274 NALCN Chromosome:1 13q32.3 NALCN HGNC:19082 true 2020-06-12T23:07:10Z 2020-07-28T02:32:11Z 0 0 0 3049 CDBP03048 Neurocalcin-delta P61601 NCALD_HUMAN false false Metal Binding Homo_sapiens NCALD 193 22245.0 5.0 Involved in calcium ion binding May be involved in the calcium-dependent regulation of rhodopsin phosphorylation. Binds three calcium ions ["None"] ["None"] 1BJF AF251061 13625184 NCALD Chromosome:8 8q22.2 NCALD HGNC:7655 true 2020-06-12T23:07:10Z 2020-07-28T02:32:01Z 0 1 0 3050 CDBP03049 Sodium/potassium/calcium exchanger 5 Q71RS6 NCKX5_HUMAN false false Enzyme Homo_sapiens SLC24A5 500 54887.6 5.83 Involved in transmembrane transport Cation exchanger involved in pigmentation, possibly by participating in ion transport in melanosomes. Probably transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+) ["1-29"] ["67-87", "112-132", "137-157", "170-190", "196-216", "303-323", "334-354", "369-389", "400-420", "438-458", "469-489"] AF348468 33341100 SLC24A5 Chromosome:1 15q21.1 SLC24A5 HGNC:20611 true 2020-06-12T23:07:10Z 2020-07-28T02:33:55Z 0 0 0 3051 CDBP03050 Sodium/potassium/calcium exchanger 6 Q6J4K2 NCKX6_HUMAN false false Enzyme Homo_sapiens SLC24A6 584 64230.8 8.07 Involved in transmembrane transport Transports Ca(2+) in exchange for either Li(+) or Na(+), explaining how Li(+) catalyzes Ca(2+) exchange. In contrast to other members of the family its function is independent of K(+) ["1-26"] ["96-116", "141-161", "169-189", "201-221", "227-247", "326-346", "361-381", "384-404", "417-437", "446-466", "488-508", "525-545", "559-579"] NM_024959.2 39995086 SLC24A6 Chromosome:1 12q24.13 SLC24A6 HGNC:26175 true 2020-06-12T23:07:10Z 2020-07-28T02:33:55Z 0 0 0 3052 CDBP03051 Neuronal calcium sensor 1 P62166 NCS1_HUMAN false false Metal Binding Homo_sapiens NCS1 190 21878.6 4.44 Involved in calcium ion binding Neuronal calcium sensor, regulator of G protein-coupled receptor phosphorylation in a calcium dependent manner. Directly regulates GRK1 (RHOK), but not GRK2 to GRK5. Can substitute for calmodulin. Stimulates PI4KB kinase activity. Involved in long-term synaptic plasticity through its interaction with PICK1. May also play a role in neuron differentiation through inhibition of the activity of N- type voltage-gated calcium channel ["None"] ["None"] 1G8I X84048 9798526 NCS1 Chromosome:9 9q34 NCS1 HGNC:3953 true 2020-06-12T23:07:10Z 2020-07-28T02:32:01Z 0 1 0 3053 CDBP03052 Neuroendocrine convertase 1 P29120 NEC1_HUMAN true false Enzyme Homo_sapiens PCSK1 753 84150.9 5.84 Involved in serine-type endopeptidase activity Involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues. Substrates include POMC, renin, enkephalin, dynorphin, somatostatin and insulin ["1-27"] ["None"] X64810 35318 PCSK1 Chromosome:5 5q15-q21 PCSK1 HGNC:8743 true 2020-06-12T23:07:10Z 2020-07-28T02:28:24Z 0 0 0 3054 CDBP03053 Neurogranin Q92686 NEUG_HUMAN false false Enzyme Homo_sapiens NRGN 78 7618.4 8.06 Involved in calmodulin binding Acts as a "third messenger" substrate of protein kinase C-mediated molecular cascades during synaptic development and remodeling. Binds to calmodulin in the absence of calcium ["None"] ["None"] AJ317956 13872825 NRGN Chromosome:1 11q24 NRGN HGNC:8000 true 2020-06-12T23:07:10Z 2020-07-28T02:33:55Z 0 0 0 3055 CDBP03054 Nuclear factor of activated T-cells, cytoplasmic 3 Q12968 NFAC3_HUMAN false false Transcription Factor Homo_sapiens NFATC3 1075 115592.8 6.35 Involved in sequence-specific DNA binding transcription factor activity Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2 ["None"] ["None"] NM_173165.2 27886561 NFATC3 Chromosome:1 16q22.2 NFATC3 HGNC:7777 true 2020-06-12T23:07:10Z 2020-07-28T02:32:06Z 0 0 1 3056 CDBP03055 Nuclear factor of activated T-cells, cytoplasmic 4 Q14934 NFAC4_HUMAN false false Transcription Factor Homo_sapiens NFATC4 902 95447.8 5.05 Involved in sequence-specific DNA binding transcription factor activity Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2 and IL- 4. Transcriptionally repressed by estrogen receptors; this inhibition is further enhanced by estrogen. Increases the transcriptional activity of PPARG and has a direct role in adipocyte differentiation. May play an important role in myotube differentiation. May play a critical role in cardiac development and hypertrophy. May play a role in deafferentation-induced apoptosis of sensory neurons ["None"] ["None"] NM_004554.4 27886563 NFATC4 Chromosome:1 14q11.2 NFATC4 HGNC:7778 true 2020-06-12T23:07:10Z 2020-07-28T02:32:06Z 0 0 1 3057 CDBP03056 Substance-P receptor P25103 NK1R_HUMAN false false Receptor Homo_sapiens TACR1 407 46250.5 7.22 Involved in G-protein coupled receptor protein signaling pathway This is a receptor for the tachykinin neuropeptide substance P. It is probably associated with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of affinity of this receptor to tachykinins is:substance P > substance K > neuromedin-K ["None"] ["32-54", "65-86", "107-128", "149-169", "195-219", "249-270", "284-308"] S62045 TACR1 Chromosome:2 2p12 TACR1 HGNC:11526 true 2020-06-12T23:07:10Z 2020-07-28T02:28:24Z 1 0 0 3058 CDBP03057 Substance-K receptor P21452 NK2R_HUMAN false false Receptor Homo_sapiens TACR2 398 44441.7 8.63 Involved in G-protein coupled receptor protein signaling pathway This is a receptor for the tachykinin neuropeptide substance K (neurokinin A). It is associated with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of affinity of this receptor to tachykinins is:substance K > neuromedin-K > substance P ["None"] ["33-56", "70-90", "108-129", "150-170", "197-218", "252-272", "291-310"] AB065731 21928731 TACR2 Chromosome:1 10q11-q21 TACR2 HGNC:11527 true 2020-06-12T23:07:10Z 2020-07-28T02:28:25Z 1 0 0 3059 CDBP03058 Neuromedin-K receptor P29371 NK3R_HUMAN false false Receptor Homo_sapiens TACR3 465 52201.4 9.61 Involved in G-protein coupled receptor protein signaling pathway This is a receptor for the tachykinin neuropeptide neuromedin-K (neurokinin B). It is associated with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of affinity of this receptor to tachykinins is:neuromedin-K > substance K > substance P ["None"] ["85-107", "118-139", "160-181", "202-222", "246-270", "300-321", "335-359"] M89473 TACR3 Chromosome:4 4q25 TACR3 HGNC:11528 true 2020-06-12T23:07:10Z 2020-07-28T02:28:25Z 1 0 0 3060 CDBP03059 Glutamate [NMDA] receptor subunit 3A Q8TCU5 NMD3A_HUMAN false true Receptor Homo_sapiens GRIN3A 1115 125464.1 7.62 Involved in ionotropic glutamate receptor activity NMDA receptor subtype of glutamate-gated ion channels with reduced single-channel conductance, low calcium permeability and low voltage-dependent sensitivity to magnesium. Mediated by glycine. May play a role in the development of dendritic spines. May play a role in PPP2CB-NMDAR mediated signaling mechanism ["1-23"] ["675-695", "749-769", "931-951"] AF416558 17530177 GRIN3A Chromosome:9 9q31.1 GRIN3A HGNC:16767 true 2020-06-12T23:07:10Z 2020-07-28T02:28:25Z 1 0 0 3061 CDBP03060 NADPH oxidase 5 Q96PH1 NOX5_HUMAN true false Enzyme Homo_sapiens NOX5 765 86438.1 8.72 Involved in calcium ion binding Calcium-dependent NADPH oxidase that generates superoxide. Also functions as a calcium-dependent proton channel and may regulate redox-dependent processes in lymphocytes and spermatozoa. May play a role in cell growth and apoptosis ["None"] ["239-259", "267-289", "318-338", "363-383", "395-417", "435-455", "584-604"] NM_024505.3 296278229 NOX5 Chromosome:1 15q23 NOX5 HGNC:14874 true 2020-06-12T23:07:10Z 2020-07-28T02:28:25Z 0 1 0 3062 CDBP03061 Neuropeptide FF receptor 1 Q9GZQ6 NPFF1_HUMAN false false Receptor Homo_sapiens NPFFR1 430 47818.4 9.63 Involved in G-protein coupled receptor protein signaling pathway Receptor for NPAF (A-18-F-amide) and NPFF (F-8-F-amide) neuropeptides, also known as morphine-modulating peptides. Can also be activated by a variety of naturally occurring or synthetic FMRF-amide like ligands. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol- calcium second messenger system ["None"] ["44-64", "81-101", "118-138", "159-179", "215-235", "272-292", "308-328"] AB040104 11125702 NPFFR1 Chromosome:1 10q21-q22 NPFFR1 HGNC:17425 true 2020-06-12T23:07:10Z 2020-07-28T02:28:25Z 1 0 0 3063 CDBP03062 Neuropeptide FF receptor 2 Q9Y5X5 NPFF2_HUMAN false false Receptor Homo_sapiens NPFFR2 522 60269.7 9.69 Involved in G-protein coupled receptor protein signaling pathway Receptor for NPAF (A-18-F-amide) and NPFF (F-8-F-amide) neuropeptides, also known as morphine-modulating peptides. Can also be activated by a variety of naturally occurring or synthetic FMRF-amide like ligands. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol- calcium second messenger system ["None"] ["148-168", "185-205", "222-242", "263-283", "320-340", "378-398", "414-434"] AF119815 4530469 NPFFR2 Chromosome:4 4q21 NPFFR2 HGNC:4525 true 2020-06-12T23:07:10Z 2020-07-28T02:28:25Z 1 0 0 3064 CDBP03063 Neuronal pentraxin-1 Q15818 NPTX1_HUMAN false false Enzyme Homo_sapiens NPTX1 432 47122.0 6.52 Involved in metal ion binding May mediate uptake of degraded synaptic material which could play an important role in synaptic remodeling. Can mediate the neuronal and glial uptake of the snake venom toxin taipoxin ["1-22"] ["None"] AK127335 193785332 NPTX1 Chromosome:1 17q25.3 NPTX1 HGNC:7952 true 2020-06-12T23:07:10Z 2020-07-28T02:33:55Z 0 0 0 3065 CDBP03064 Neuronal pentraxin-2 P47972 NPTX2_HUMAN false false Enzyme Homo_sapiens NPTX2 431 47041.2 5.34 Involved in metal ion binding Likely to play role in the modification of cellular properties that underlie long-term plasticity. Binds to agar matrix in a calcium-dependent manner ["1-15"] ["None"] AC074121 37574283 NPTX2 Chromosome:7 7q21.3-q22.1 NPTX2 HGNC:7953 true 2020-06-12T23:07:10Z 2020-07-28T02:33:55Z 0 0 0 3066 CDBP03065 Pentraxin-4 Q96A99 PTX4_HUMAN false false Enzyme Homo_sapiens PTX4 478 52339.0 9.99 Involved in metal ion binding ["1-25"] ["None"] 61966763 PTX4 Chromosome:1 16p13.3 PTX4 HGNC:14171 true 2020-06-12T23:07:10Z 2020-07-28T02:33:55Z 0 0 0 3067 CDBP03066 Neuronal pentraxin receptor O95502 NPTXR_HUMAN false false Receptor Homo_sapiens NPTXR 500 52845.6 6.14 Involved in metal ion binding ["None"] ["3-23"] AL008583 168985102 NPTXR Chromosome:2 22q13.1 NPTXR HGNC:7954 true 2020-06-12T23:07:10Z 2020-07-28T02:28:25Z 1 0 0 3068 CDBP03067 Neurotensin receptor type 1 P30989 NTR1_HUMAN false false Receptor Homo_sapiens NTSR1 418 46258.3 9.6 Involved in G-protein coupled receptor protein signaling pathway Receptor for the tridecapeptide neurotensin. It is associated with G proteins that activate a phosphatidylinositol- calcium second messenger system ["None"] ["64-86", "96-120", "143-164", "188-209", "235-259", "304-325", "344-367"] AL035669 66347257 NTSR1 Chromosome:2 20q13 NTSR1 HGNC:8039 true 2020-06-12T23:07:10Z 2020-07-28T02:28:25Z 1 0 0 3069 CDBP03068 Neurotensin receptor type 2 O95665 NTR2_HUMAN false false Receptor Homo_sapiens NTSR2 410 45412.7 9.64 Involved in G-protein coupled receptor protein signaling pathway Receptor for the tridecapeptide neurotensin. It is associated with G proteins that activate a phosphatidylinositol- calcium second messenger system ["None"] ["33-55", "65-87", "110-131", "155-176", "218-237", "298-318", "338-358"] Y10148 3901028 NTSR2 Chromosome:2 2p25.1 NTSR2 HGNC:8040 true 2020-06-12T23:07:10Z 2020-07-28T02:28:25Z 1 0 0 3070 CDBP03069 Nucleobindin-1 Q02818 NUCB1_HUMAN false false Metal Binding Homo_sapiens NUCB1 461 53879.0 4.92 Involved in calcium ion binding Major calcium-binding protein of the Golgi. May have a role in calcium homeostasis ["1-26"] ["None"] 1SNL AK315422 189067873 NUCB1 Chromosome:1 19q13.33 NUCB1 HGNC:8043 true 2020-06-12T23:07:10Z 2020-07-28T02:32:01Z 0 1 0 3071 CDBP03070 Kappa-type opioid receptor P41145 OPRK_HUMAN false false Receptor Homo_sapiens OPRK1 380 42644.7 7.79 Involved in G-protein coupled receptor protein signaling pathway Inhibits neurotransmitter release by reducing calcium ion currents and increasing potassium ion conductance. Receptor for dynorphins. May play a role in arousal and regulation of autonomic and neuroendocrine functions ["None"] ["59-85", "96-117", "133-154", "174-196", "223-247", "276-299", "312-333"] AF498922 20379020 OPRK1 Chromosome:8 8q11.2 OPRK1 HGNC:8154 true 2020-06-12T23:07:10Z 2020-07-28T02:28:25Z 1 0 0 3072 CDBP03071 Sigma non-opioid intracellular receptor 1 Q99720 SGMR1_HUMAN false false Receptor Homo_sapiens SIGMAR1 223 25127.5 5.87 Involved in C-8 sterol isomerase activity Functions in lipid transport from the endoplasmic reticulum and is involved in a wide array of cellular functions probably through regulation of the biogenesis of lipid microdomains at the plasma membrane. Involved in the regulation of different receptors it plays a role in BDNF signaling and EGF signaling. Also regulates ion channels like the potassium channel and could modulate neurotransmitter release. Plays a role in calcium signaling through modulation together with ANK2 of the ITP3R-dependent calcium efflux at the endoplasmic reticulum. Plays a role in several other cell functions including proliferation, survival and death. Originally identified for its ability to bind various psychoactive drugs it is involved in learning processes, memory and mood alteration ["None"] ["10-30", "81-101"] U75283 SIGMAR1 Chromosome:9 9p13.3 SIGMAR1 HGNC:8157 true 2020-06-12T23:07:10Z 2020-07-28T02:28:25Z 1 0 0 3073 CDBP03072 Otopetrin-1 Q7RTM1 OTOP1_HUMAN false false Enzyme Homo_sapiens OTOP1 612 67352.8 8.51 Involved in biomineral formation Required for normal formation of otoconia in the inner ear. Inhibits P2Y purinoceptors. Modulates calcium homeostasis and influx of calcium in response to extracellular ATP ["None"] ["67-87", "92-112", "137-157", "168-188", "269-289", "311-331", "346-366", "393-413", "545-565", "576-596"] BC130430 120660054 OTOP1 Chromosome:4 4p16.3 OTOP1 HGNC:19656 true 2020-06-12T23:07:10Z 2020-07-28T02:33:55Z 0 0 0 3074 CDBP03073 P2X purinoceptor 1 P51575 P2RX1_HUMAN false true Enzyme Homo_sapiens P2RX1 399 44979.8 8.59 Involved in receptor activity Ligand-gated ion channel with relatively high calcium permeability. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Seems to be linked to apoptosis, by increasing the intracellular concentration of calcium in the presence of ATP, leading to programmed cell death ["None"] ["29-50", "339-358"] AF020498 3258623 P2RX1 Chromosome:1 17p13.3 P2RX1 HGNC:8533 true 2020-06-12T23:07:10Z 2020-07-28T02:33:55Z 1 0 0 3075 CDBP03074 P2Y purinoceptor 4 P51582 P2RY4_HUMAN false false Receptor Homo_sapiens P2RY4 365 40962.5 8.61 Involved in G-protein coupled receptor protein signaling pathway Receptor for UTP and UDP coupled to G-proteins that activate a phosphatidylinositol-calcium second messenger system. Not activated by ATP or ADP ["None"] ["35-61", "73-95", "113-131", "155-174", "197-222", "247-269", "288-309"] AL357752 57209113 P2RY4 P2RY4 HGNC:8542 true 2020-06-12T23:07:10Z 2020-07-28T02:32:19Z 1 0 0 3076 CDBP03075 P2Y purinoceptor 6 Q15077 P2RY6_HUMAN false false Receptor Homo_sapiens P2RY6 328 36428.5 9.7 Involved in G-protein coupled receptor protein signaling pathway Receptor for extracellular UDP > UTP > ATP. The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system ["None"] ["28-48", "63-83", "102-122", "145-165", "195-215", "237-257", "281-303"] AF007891 2258420 P2RY6 Chromosome:1 11q13.5 P2RY6 HGNC:8543 true 2020-06-12T23:07:10Z 2020-07-28T02:32:19Z 1 0 0 3077 CDBP03076 P2Y purinoceptor 11 Q96G91 P2Y11_HUMAN false false Receptor Homo_sapiens P2RY11 374 40344.8 9.28 Involved in G-protein coupled receptor protein signaling pathway Receptor for ATP and ADP coupled to G-proteins that activate both phosphatidylinositol-calcium and adenylyl cyclase second messenger systems. Not activated by UTP or UDP ["None"] ["30-50", "65-85", "117-137", "147-167", "207-227", "246-266", "309-329"] NM_002566.4 23463303 P2RY11 Chromosome:1 19p13.2 P2RY11 HGNC:8540 true 2020-06-12T23:07:10Z 2020-07-28T02:32:19Z 1 0 0 3078 CDBP03077 Cytosolic phospholipase A2 delta Q86XP0 PA24D_HUMAN true false Enzyme Homo_sapiens PLA2G4D 818 91951.405 5.503 Involved in metabolic process Calcium-dependent phospholipase A2 that selectively hydrolyzes glycerophospholipids in the sn-2 position. Not arachidonic acid-specific but has linoleic acid-specific activity. May play a role in inflammation in psoriatic lesions. AB090876 29467442 PLA2G4D 15 15q15.1 PLA2G4D HGNC:30038 true hsa:283748 NP_828848.3:NM_178034.3 Expressed in stratified squamous epithelia, such as those in skin and cervix, but not in other tissues. Strongly expressed in the upper spinous layer of the psoriatic epidermis, expressed weakly and discontinuously in atopic dermatitis and mycosis fungoides, and not detected in the epidermis of normal skin. 2020-06-12T23:07:10Z 2020-07-28T02:28:26Z 0 1 0 3079 CDBP03078 Cytosolic phospholipase A2 epsilon Q3MJ16 PA24E_HUMAN true false Enzyme Homo_sapiens PLA2G4E 838 99189.335 5.648 Involved in metabolic process Calcium-dependent phospholipase A2 that selectively hydrolyzes glycerophospholipids in the sn-2 position (By similarity). PLA2G4E 15 15q15.1 PLA2G4E HGNC:24791 true hsa:123745 NP_001193599.1:NM_001206670.1 2020-06-12T23:07:10Z 2020-07-28T02:28:26Z 0 1 0 3080 CDBP03079 Cytosolic phospholipase A2 zeta Q68DD2 PA24F_HUMAN true false Enzyme Homo_sapiens PLA2G4F 849 95081.5 5.439 Involved in metabolic process Calcium-dependent phospholipase A2 that selectively hydrolyzes glycerophospholipids in the sn-2 position. Has higher enzyme activity for phosphatidylethanolamine than phosphatidylcholine (By similarity). NM_213600.3 281371376 PLA2G4F 15 15q15.1 PLA2G4F HGNC:27396 true hsa:255189 NP_998765.3:NM_213600.3 2020-06-12T23:07:10Z 2020-07-28T02:28:26Z 0 1 0 3081 CDBP03080 Protocadherin-11 X-linked Q9BZA7 PC11X_HUMAN false false Metal Binding Homo_sapiens PCDH11X 1347 147557.1 4.84 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein ["1-23"] ["813-833"] NM_032968.3 14589920 PCDH11X PCDH11X HGNC:8656 true 2020-06-12T23:07:10Z 2020-07-28T02:32:01Z 0 1 0 3082 CDBP03081 Protocadherin-11 Y-linked Q9BZA8 PC11Y_HUMAN false false Metal Binding Homo_sapiens PCDH11Y 1340 146773.3 4.84 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein ["1-28"] ["845-865"] NM_032973.1 14589946 PCDH11Y PCDH11Y HGNC:15813 true 2020-06-12T23:07:10Z 2020-07-28T02:32:01Z 0 1 0 3083 CDBP03082 Protocadherin-10 Q9P2E7 PCD10_HUMAN false false Metal Binding Homo_sapiens PCDH10 1040 112934.9 4.49 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein ["1-18"] ["716-736"] NM_032961.1 14589916 PCDH10 Chromosome:4 4q28.3 PCDH10 HGNC:13404 true 2020-06-12T23:07:10Z 2020-07-28T02:32:01Z 0 1 0 3084 CDBP03083 Protocadherin-12 Q9NPG4 PCD12_HUMAN false false Metal Binding Homo_sapiens PCDH12 1184 128993.3 4.93 Involved in calcium ion binding Cellular adhesion molecule that may play an important role in cell-cell interactions at interendothelial junctions. Promotes homotypic calcium dependent aggregation and adhesion and clusters at intercellular junctions. Unable to bind to catenins, weakly associates with the cytoskeleton ["1-24"] ["719-739"] AB026893 7678873 PCDH12 Chromosome:5 5q31 PCDH12 HGNC:8657 true 2020-06-12T23:07:10Z 2020-07-28T02:32:01Z 0 1 0 3085 CDBP03084 Protocadherin-15 Q96QU1 PCD15_HUMAN false false Metal Binding Homo_sapiens PCDH15 1955 216067.1 4.69 Involved in calcium ion binding Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function ["1-26"] ["1377-1397"] NM_033056 115387123 PCDH15 Chromosome:1 10q21.1 PCDH15 HGNC:14674 true 2020-06-12T23:07:10Z 2020-07-28T02:32:01Z 0 1 0 3086 CDBP03085 Protocadherin-16 Q96JQ0 PCD16_HUMAN false false Metal Binding Homo_sapiens DCHS1 3298 346177.2 4.55 Involved in calcium ion binding Calcium-dependent cell-adhesion protein (Potential) ["1-42"] ["2941-2961"] NM_003737.2 16933557 DCHS1 Chromosome:1 11p15.4 DCHS1 HGNC:13681 true 2020-06-12T23:07:10Z 2020-07-28T02:32:01Z 0 1 0 3087 CDBP03086 Protocadherin-17 O14917 PCD17_HUMAN false false Metal Binding Homo_sapiens PCDH17 1159 126228.3 4.81 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein ["1-17"] ["708-728"] NM_001040429.2 94538350 PCDH17 Chromosome:1 13q21.1 PCDH17 HGNC:14267 true 2020-06-12T23:07:10Z 2020-07-28T02:32:01Z 0 1 0 3088 CDBP03087 Protocadherin-18 Q9HCL0 PCD18_HUMAN false false Metal Binding Homo_sapiens PCDH18 1135 126148.0 4.78 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein ["1-27"] ["700-720"] NM_019035.3 14589929 PCDH18 Chromosome:4 4q31 PCDH18 HGNC:14268 true 2020-06-12T23:07:11Z 2020-07-28T02:32:01Z 0 1 0 3089 CDBP03088 Protocadherin-19 Q8TAB3 PCD19_HUMAN false false Metal Binding Homo_sapiens PCDH19 1148 126251.4 5.01 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein ["1-21"] ["679-699"] NM_001184880.1 296434287 PCDH19 PCDH19 HGNC:14270 true 2020-06-12T23:07:11Z 2020-07-28T02:32:01Z 0 1 0 3090 CDBP03089 Protocadherin-20 Q8N6Y1 PCD20_HUMAN false false Metal Binding Homo_sapiens PCDH20 924 101925.7 4.57 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein ["1-33"] ["864-884"] BC027907 20379898 PCDH20 Chromosome:1 13q21 PCDH20 HGNC:14257 true 2020-06-12T23:07:11Z 2020-07-28T02:32:01Z 0 1 0 3091 CDBP03090 Cadherin-related family member 1 Q96JP9 CDHR1_HUMAN false false Metal Binding Homo_sapiens CDHR1 859 93594.1 5.22 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be required for the structural integrity of the outer segment (OS) of photoreceptor cells ["1-19"] ["701-721"] NM_033100.2 16933565 CDHR1 Chromosome:1 10q23.1 CDHR1 HGNC:14550 true 2020-06-12T23:07:11Z 2020-07-28T02:32:01Z 0 1 0 3092 CDBP03091 Protocadherin-23 Q6V1P9 PCD23_HUMAN false false Metal Binding Homo_sapiens DCHS2 2916 322231.0 4.38 Involved in calcium ion binding Calcium-dependent cell-adhesion protein ["None"] ["2541-2561"] NM_017639.3 47059046 DCHS2 Chromosome:4 4q31.3 DCHS2 HGNC:23111 true 2020-06-12T23:07:11Z 2020-07-28T02:32:01Z 0 1 0 3093 CDBP03092 Protocadherin alpha-1 Q9Y5I3 PCDA1_HUMAN false false Metal Binding Homo_sapiens PCDHA1 950 102951.1 4.78 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-29"] ["698-718"] NM_018900.2 9256582 PCDHA1 Chromosome:5 5q31 PCDHA1 HGNC:8663 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3094 CDBP03093 Protocadherin alpha-2 Q9Y5H9 PCDA2_HUMAN false false Metal Binding Homo_sapiens PCDHA2 948 102061.8 4.83 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-22"] ["698-718"] NM_018905.2 9256584 PCDHA2 Chromosome:5 5q31 PCDHA2 HGNC:8668 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3095 CDBP03094 Protocadherin alpha-3 Q9Y5H8 PCDA3_HUMAN false false Metal Binding Homo_sapiens PCDHA3 950 102427.3 4.7 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-29"] ["698-718"] NM_018906.2 9256586 PCDHA3 Chromosome:5 5q31 PCDHA3 HGNC:8669 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3096 CDBP03095 Protocadherin alpha-4 Q9UN74 PCDA4_HUMAN false false Metal Binding Homo_sapiens PCDHA4 947 102292.3 4.71 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-29"] ["698-718"] NM_018907.2 9256588 PCDHA4 Chromosome:5 5q31 PCDHA4 HGNC:8670 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3097 CDBP03096 Protocadherin alpha-5 Q9Y5H7 PCDA5_HUMAN false false Metal Binding Homo_sapiens PCDHA5 936 102047.2 5.08 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-28"] ["697-717"] NM_018908.2 9256590 PCDHA5 Chromosome:5 5q31 PCDHA5 HGNC:8671 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3098 CDBP03097 Protocadherin alpha-6 Q9UN73 PCDA6_HUMAN false false Metal Binding Homo_sapiens PCDHA6 950 102714.6 4.68 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-29"] ["698-718"] NM_018909.2 9256592 PCDHA6 Chromosome:5 5q31 PCDHA6 HGNC:8672 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3099 CDBP03098 Protocadherin alpha-7 Q9UN72 PCDA7_HUMAN false false Metal Binding Homo_sapiens PCDHA7 937 100864.0 4.86 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-29"] ["698-718"] NM_018910.2 9256594 PCDHA7 Chromosome:5 5q31 PCDHA7 HGNC:8673 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3100 CDBP03099 Protocadherin alpha-8 Q9Y5H6 PCDA8_HUMAN false false Metal Binding Homo_sapiens PCDHA8 950 103050.1 4.93 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-29"] ["698-718"] NM_018911.2 9256596 PCDHA8 Chromosome:5 5q31 PCDHA8 HGNC:8674 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3101 CDBP03100 Protocadherin alpha-9 Q9Y5H5 PCDA9_HUMAN false false Metal Binding Homo_sapiens PCDHA9 950 102401.5 4.69 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-29"] ["698-718"] NM_031857.1 14165425 PCDHA9 Chromosome:5 5q31 PCDHA9 HGNC:8675 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3102 CDBP03101 Protocadherin alpha-10 Q9Y5I2 PCDAA_HUMAN false false Metal Binding Homo_sapiens PCDHA10 948 102874.2 4.8 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-28"] ["696-716"] NM_018901.2 9256574 PCDHA10 Chromosome:5 5q31 PCDHA10 HGNC:8664 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3103 CDBP03102 Protocadherin alpha-11 Q9Y5I1 PCDAB_HUMAN false false Metal Binding Homo_sapiens PCDHA11 949 103297.3 5.01 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-29"] ["697-717"] NM_018902.3 9256576 PCDHA11 Chromosome:5 5q31 PCDHA11 HGNC:8665 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3104 CDBP03103 Protocadherin alpha-12 Q9UN75 PCDAC_HUMAN false false Metal Binding Homo_sapiens PCDHA12 941 101651.1 4.91 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-29"] ["698-718"] NM_018903.2 9256578 PCDHA12 Chromosome:5 5q31 PCDHA12 HGNC:8666 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3105 CDBP03104 Protocadherin alpha-13 Q9Y5I0 PCDAD_HUMAN false false Metal Binding Homo_sapiens PCDHA13 950 102482.4 4.85 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-29"] ["698-718"] NM_018904.2 9256580 PCDHA13 Chromosome:5 5q31 PCDHA13 HGNC:8667 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3106 CDBP03105 Protocadherin beta-1 Q9Y5F3 PCDB1_HUMAN false false Metal Binding Homo_sapiens PCDHB1 818 90489.8 5.03 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-28"] ["692-712"] AF152488 5457025 PCDHB1 Chromosome:5 5q31 PCDHB1 HGNC:8680 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3107 CDBP03106 Protocadherin beta-2 Q9Y5E7 PCDB2_HUMAN false false Metal Binding Homo_sapiens PCDHB2 798 87252.9 4.5 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-30"] ["693-713"] AF152495 5457039 PCDHB2 Chromosome:5 5q31 PCDHB2 HGNC:8687 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3108 CDBP03107 Protocadherin beta-3 Q9Y5E6 PCDB3_HUMAN false false Metal Binding Homo_sapiens PCDHB3 796 86772.0 4.62 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-26"] ["691-711"] AF152496 5457041 PCDHB3 Chromosome:5 5q31 PCDHB3 HGNC:8688 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3109 CDBP03108 Protocadherin beta-4 Q9Y5E5 PCDB4_HUMAN false false Metal Binding Homo_sapiens PCDHB4 795 87269.3 4.83 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-27"] ["690-710"] AF152497 5457043 PCDHB4 Chromosome:5 5q31 PCDHB4 HGNC:8689 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3110 CDBP03109 Protocadherin beta-5 Q9Y5E4 PCDB5_HUMAN false false Metal Binding Homo_sapiens PCDHB5 795 86421.8 4.62 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-30"] ["690-710"] AF134474 33150746 PCDHB5 Chromosome:5 5q31 PCDHB5 HGNC:8690 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3111 CDBP03110 Protocadherin beta-6 Q9Y5E3 PCDB6_HUMAN false false Metal Binding Homo_sapiens PCDHB6 794 87348.9 4.63 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-27"] ["689-709"] AF152499 5457047 PCDHB6 Chromosome:5 5q31 PCDHB6 HGNC:8691 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3112 CDBP03111 Protocadherin beta-7 Q9Y5E2 PCDB7_HUMAN false false Metal Binding Homo_sapiens PCDHB7 793 86706.2 4.64 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-26"] ["689-709"] AF152500 5457049 PCDHB7 Chromosome:5 5q31 PCDHB7 HGNC:8692 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3113 CDBP03112 Protocadherin beta-8 Q9UN66 PCDB8_HUMAN false false Metal Binding Homo_sapiens PCDHB8 801 87637.9 4.5 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-28"] ["692-710"] AF152501 11142063 PCDHB8 Chromosome:5 5q31 PCDHB8 HGNC:8693 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3114 CDBP03113 Protocadherin beta-9 Q9Y5E1 PCDB9_HUMAN false false Metal Binding Homo_sapiens PCDHB9 797 87098.2 4.64 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-26"] ["691-711"] AF152502 11142065 PCDHB9 Chromosome:5 5q31 PCDHB9 HGNC:8694 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3115 CDBP03114 Protocadherin beta-10 Q9UN67 PCDBA_HUMAN false false Metal Binding Homo_sapiens PCDHB10 800 87619.8 4.49 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-26"] ["693-713"] AF152489 5457027 PCDHB10 Chromosome:5 5q31 PCDHB10 HGNC:8681 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3116 CDBP03115 Protocadherin beta-11 Q9Y5F2 PCDBB_HUMAN false false Metal Binding Homo_sapiens PCDHB11 797 87087.5 4.48 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-26"] ["691-711"] AF152490 5457029 PCDHB11 Chromosome:5 5q31 PCDHB11 HGNC:8682 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3117 CDBP03116 Protocadherin beta-12 Q9Y5F1 PCDBC_HUMAN false false Metal Binding Homo_sapiens PCDHB12 795 86769.0 4.46 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-26"] ["691-711"] AF152491 5457031 PCDHB12 Chromosome:5 5q31 PCDHB12 HGNC:8683 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3118 CDBP03117 Protocadherin beta-13 Q9Y5F0 PCDBD_HUMAN false false Metal Binding Homo_sapiens PCDHB13 798 87551.1 4.55 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-28"] ["691-711"] AF152492 5457033 PCDHB13 Chromosome:5 5q31 PCDHB13 HGNC:8684 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3119 CDBP03118 Protocadherin beta-14 Q9Y5E9 PCDBE_HUMAN false false Metal Binding Homo_sapiens PCDHB14 798 87546.9 4.57 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-26"] ["687-711"] AF152493 5457035 PCDHB14 Chromosome:5 5q31 PCDHB14 HGNC:8685 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3120 CDBP03119 Protocadherin beta-15 Q9Y5E8 PCDBF_HUMAN false false Metal Binding Homo_sapiens PCDHB15 787 86328.4 4.46 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-26"] ["691-711"] AF152494 5457037 PCDHB15 Chromosome:5 5q31 PCDHB15 HGNC:8686 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3121 CDBP03120 Protocadherin beta-16 Q9NRJ7 PCDBG_HUMAN false false Metal Binding Homo_sapiens PCDHB16 776 84982.5 4.75 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-28"] ["691-711"] NM_020957.1 14195605 PCDHB16 Chromosome:5 5q31 PCDHB16 HGNC:14546 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3122 CDBP03121 Putative protocadherin beta-18 Q96TA0 PCDBI_HUMAN false false Metal Binding Homo_sapiens PCDHB18 734 80472.1 4.64 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein ["None"] ["638-658"] AF217743 14009451 PCDHB18 Chromosome:5 5q31 PCDHB18 HGNC:14548 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3123 CDBP03122 Protocadherin alpha-C1 Q9H158 PCDC1_HUMAN false false Metal Binding Homo_sapiens PCDHAC1 963 103940.7 4.83 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-18"] ["684-704"] AF152303 5456892 PCDHAC1 Chromosome:5 5q31 PCDHAC1 HGNC:8676 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3124 CDBP03123 Protocadherin alpha-C2 Q9Y5I4 PCDC2_HUMAN false false Metal Binding Homo_sapiens PCDHAC2 1007 109449.0 5.07 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-42"] ["709-729"] AF152304 5456894 PCDHAC2 Chromosome:5 5q31 PCDHAC2 HGNC:8677 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3125 CDBP03124 Protocadherin gamma-A1 Q9Y5H4 PCDG1_HUMAN false false Metal Binding Homo_sapiens PCDHGA1 931 101224.9 4.64 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-28"] ["693-713"] AF152318 5456924 PCDHGA1 Chromosome:5 5q31 PCDHGA1 HGNC:8696 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3126 CDBP03125 Protocadherin gamma-A2 Q9Y5H1 PCDG2_HUMAN false false Metal Binding Homo_sapiens PCDHGA2 932 101483.3 4.61 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-28"] ["693-713"] AF152322 5456934 PCDHGA2 Chromosome:5 5q31 PCDHGA2 HGNC:8700 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3127 CDBP03126 Protocadherin gamma-A3 Q9Y5H0 PCDG3_HUMAN false false Metal Binding Homo_sapiens PCDHGA3 932 100969.5 4.61 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-29"] ["693-713"] NM_018916.3 14589880 PCDHGA3 Chromosome:5 5q31 PCDHGA3 HGNC:8701 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3128 CDBP03127 Protocadherin gamma-A4 Q9Y5G9 PCDG4_HUMAN false false Metal Binding Homo_sapiens PCDHGA4 931 100588.2 4.48 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-28"] ["693-713"] AF152324 5456940 PCDHGA4 Chromosome:5 5q31 PCDHGA4 HGNC:8702 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3129 CDBP03128 Protocadherin gamma-A5 Q9Y5G8 PCDG5_HUMAN false false Metal Binding Homo_sapiens PCDHGA5 931 100934.1 4.47 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-29"] ["693-713"] AF152325 5456942 PCDHGA5 Chromosome:5 5q31 PCDHGA5 HGNC:8703 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3130 CDBP03129 Protocadherin gamma-A6 Q9Y5G7 PCDG6_HUMAN false false Metal Binding Homo_sapiens PCDHGA6 932 100870.4 4.5 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-29"] ["693-713"] AF152326 5456944 PCDHGA6 Chromosome:5 5q31 PCDHGA6 HGNC:8704 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3131 CDBP03130 Protocadherin gamma-A7 Q9Y5G6 PCDG7_HUMAN false false Metal Binding Homo_sapiens PCDHGA7 932 101721.1 4.48 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-28"] ["693-713"] AF152327 5456948 PCDHGA7 Chromosome:5 5q31 PCDHGA7 HGNC:8705 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3132 CDBP03131 Protocadherin gamma-A8 Q9Y5G5 PCDG8_HUMAN false false Metal Binding Homo_sapiens PCDHGA8 932 101479.0 4.89 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-29"] ["693-713"] NM_032088.1 14270484 PCDHGA8 Chromosome:5 5q31 PCDHGA8 HGNC:8706 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3133 CDBP03132 Protocadherin gamma-A9 Q9Y5G4 PCDG9_HUMAN false false Metal Binding Homo_sapiens PCDHGA9 932 101686.0 4.66 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-28"] ["693-713"] AF152329 5456952 PCDHGA9 Chromosome:5 5q31 PCDHGA9 HGNC:8707 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3134 CDBP03133 Protocadherin gamma-A10 Q9Y5H3 PCDGA_HUMAN false false Metal Binding Homo_sapiens PCDHGA10 936 101445.5 4.53 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-32"] ["697-717"] AF152319 5456926 PCDHGA10 Chromosome:5 5q31 PCDHGA10 HGNC:8697 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3135 CDBP03134 Protocadherin gamma-A11 Q9Y5H2 PCDGB_HUMAN false false Metal Binding Homo_sapiens PCDHGA11 935 101542.0 4.56 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-29"] ["694-714"] AF152320 5456928 PCDHGA11 Chromosome:5 5q31 PCDHGA11 HGNC:8698 true 2020-06-12T23:07:11Z 2020-07-28T02:32:02Z 0 1 0 3136 CDBP03135 Protocadherin gamma-A12 O60330 PCDGC_HUMAN false false Metal Binding Homo_sapiens PCDHGA12 932 100954.1 4.66 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-29"] ["693-713"] NM_003735.2 8850232 PCDHGA12 Chromosome:5 5q31 PCDHGA12 HGNC:8699 true 2020-06-12T23:07:11Z 2020-07-28T02:32:03Z 0 1 0 3137 CDBP03136 Protocadherin gamma-B1 Q9Y5G3 PCDGD_HUMAN false false Metal Binding Homo_sapiens PCDHGB1 927 100358.5 4.69 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-28"] ["688-708"] AF152330 5456957 PCDHGB1 Chromosome:5 5q31 PCDHGB1 HGNC:8708 true 2020-06-12T23:07:11Z 2020-07-28T02:32:03Z 0 1 0 3138 CDBP03137 Protocadherin gamma-B2 Q9Y5G2 PCDGE_HUMAN false false Metal Binding Homo_sapiens PCDHGB2 931 100874.1 4.66 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-30"] ["692-712"] AF152331 5456959 PCDHGB2 Chromosome:5 5q31 PCDHGB2 HGNC:8709 true 2020-06-12T23:07:11Z 2020-07-28T02:32:03Z 0 1 0 3139 CDBP03138 Protocadherin gamma-B3 Q9Y5G1 PCDGF_HUMAN false false Metal Binding Homo_sapiens PCDHGB3 929 101203.4 4.62 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-30"] ["692-712"] AF152332 5456961 PCDHGB3 Chromosome:5 5q31 PCDHGB3 HGNC:8710 true 2020-06-12T23:07:11Z 2020-07-28T02:32:03Z 0 1 0 3140 CDBP03139 Protocadherin gamma-B4 Q9UN71 PCDGG_HUMAN false false Metal Binding Homo_sapiens PCDHGB4 923 99925.7 4.55 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-30"] ["690-710"] NM_003736.2 13470082 PCDHGB4 Chromosome:5 5q31 PCDHGB4 HGNC:8711 true 2020-06-12T23:07:11Z 2020-07-28T02:32:03Z 0 1 0 3141 CDBP03140 Protocadherin gamma-B5 Q9Y5G0 PCDGH_HUMAN false false Metal Binding Homo_sapiens PCDHGB5 923 99874.1 4.67 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-30"] ["688-708"] AF152334 5456968 PCDHGB5 Chromosome:5 5q31 PCDHGB5 HGNC:8712 true 2020-06-12T23:07:11Z 2020-07-28T02:32:03Z 0 1 0 3142 CDBP03141 Protocadherin gamma-B6 Q9Y5F9 PCDGI_HUMAN false false Metal Binding Homo_sapiens PCDHGB6 930 101042.4 4.89 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-30"] ["692-712"] AF152335 5456973 PCDHGB6 Chromosome:5 5q31 PCDHGB6 HGNC:8713 true 2020-06-12T23:07:11Z 2020-07-28T02:32:03Z 0 1 0 3143 CDBP03142 Protocadherin gamma-B7 Q9Y5F8 PCDGJ_HUMAN false false Metal Binding Homo_sapiens PCDHGB7 929 100973.2 4.71 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-30"] ["692-712"] AF152336 5456975 PCDHGB7 Chromosome:5 5q31 PCDHGB7 HGNC:8714 true 2020-06-12T23:07:11Z 2020-07-28T02:32:03Z 0 1 0 3144 CDBP03143 Protocadherin gamma-C3 Q9UN70 PCDGK_HUMAN false false Metal Binding Homo_sapiens PCDHGC3 934 101076.5 4.84 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-31"] ["694-714"] AF052685 2995719 PCDHGC3 Chromosome:5 5q31 PCDHGC3 HGNC:8716 true 2020-06-12T23:07:11Z 2020-07-28T02:32:03Z 0 1 0 3145 CDBP03144 Protocadherin gamma-C4 Q9Y5F7 PCDGL_HUMAN false false Metal Binding Homo_sapiens PCDHGC4 938 101212.6 4.97 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-29"] ["693-713"] AF152338 5456982 PCDHGC4 Chromosome:5 5q31 PCDHGC4 HGNC:8717 true 2020-06-12T23:07:11Z 2020-07-28T02:32:03Z 0 1 0 3146 CDBP03145 Protocadherin gamma-C5 Q9Y5F6 PCDGM_HUMAN false false Metal Binding Homo_sapiens PCDHGC5 944 101919.7 4.63 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain ["1-29"] ["694-714"] AF152339 5456984 PCDHGC5 Chromosome:5 5q31 PCDHGC5 HGNC:8718 true 2020-06-12T23:07:11Z 2020-07-28T02:32:03Z 0 1 0 3147 CDBP03146 Protocadherin-9 Q9HC56 PCDH9_HUMAN false false Metal Binding Homo_sapiens PCDH9 1237 136063.3 5.12 Involved in calcium ion binding Potential calcium-dependent cell-adhesion protein ["1-23"] ["815-835"] NM_203487.2 45243534 PCDH9 Chromosome:1 13q21.32 PCDH9 HGNC:8661 true 2020-06-12T23:07:11Z 2020-07-28T02:32:03Z 0 1 0 3148 CDBP03147 Protein piccolo Q9Y6V0 PCLO_HUMAN false true Enzyme Homo_sapiens PCLO 5183 566652.3 6.49 Involved in transporter activity May act as a scaffolding protein involved in the organization of synaptic active zones and in synaptic vesicle trafficking ["None"] ["None"] 150378539 PCLO Chromosome:7 7q11.23-q21.3 PCLO HGNC:13406 true 2020-06-12T23:07:11Z 2020-07-28T02:33:55Z 0 1 0 3149 CDBP03148 Proprotein convertase subtilisin/kexin type 7 Q16549 PCSK7_HUMAN true false Enzyme Homo_sapiens PCSK7 785 86246.4 5.69 Involved in serine-type endopeptidase activity Likely to represent a ubiquitous endoprotease activity within constitutive secretory pathways and capable of cleavage at the RXXX[KR]R consensus motif ["1-37"] ["668-688"] NM_004716.2 20336248 PCSK7 Chromosome:1 11q23-q24 PCSK7 HGNC:8748 true 2020-06-12T23:07:11Z 2020-07-28T02:28:30Z 0 0 0 3150 CDBP03149 Proprotein convertase subtilisin/kexin type 9 Q8NBP7 PCSK9_HUMAN true false Enzyme Homo_sapiens PCSK9 692 74371.6 6.53 Involved in serine-type endopeptidase activity May be implicated in the differentiation of cortical neurons and may play a role in cholesterol homeostasis ["1-30"] ["None"] NM_174936.3 31317307 PCSK9 Chromosome:1 1p32.3 PCSK9 HGNC:20001 true 2020-06-12T23:07:11Z 2020-07-28T02:28:30Z 0 0 0 3151 CDBP03150 Programmed cell death 6-interacting protein Q8WUM4 PDC6I_HUMAN false false Enzyme Homo_sapiens PDCD6IP 868 96022.3 6.46 Cell cycle control, cell division, chromosome partitioning Class E VPS protein involved in concentration and sorting of cargo proteins of the multivesicular body (MVB) for incorporation into intralumenal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome. Binds to the phospholipid lysobisphosphatidic acid (LBPA) which is abundant in MVBs internal membranes. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and enveloped virus budding (HIV-1 and other lentiviruses). Appears to be an adapter for a subset of ESCRT-III proteins, such as CHMP4, to function at distinct membranes. Required for completion of cytokinesis. Involved in HIV-1 virus budding. Can replace TSG101 it its role of supporting HIV-1 release; this function implies the interaction with CHMP4B. May play a role in the regulation of both apoptosis and cell proliferation ["None"] ["None"] NM_013374.4 22027538 PDCD6IP Chromosome:3 3p22.3 PDCD6IP HGNC:8766 true 2020-06-12T23:07:11Z 2020-07-28T02:33:55Z 0 0 0 3152 CDBP03151 Programmed cell death protein 6 O75340 PDCD6_HUMAN false false Metal Binding Homo_sapiens PDCD6 191 21868.3 4.97 Involved in calcium ion binding Calcium-binding protein required for T-cell receptor-, Fas-, and glucocorticoid-induced cell death. May mediate Ca(2+)- regulated signals along the death pathway. Calcium-dependent adapter necessary for the association between PDCD6IP and TSG101 ["None"] ["None"] 1HQV AF035606 3342794 PDCD6 Chromosome:5 5p15.33 PDCD6 HGNC:8765 true 2020-06-12T23:07:11Z 2020-07-28T02:32:03Z 0 1 0 3153 CDBP03152 Prostaglandin E2 receptor EP3 subtype P43115 PE2R3_HUMAN false false Receptor Homo_sapiens PTGER3 390 43309.3 10.05 Involved in G-protein coupled receptor protein signaling pathway Receptor for prostaglandin E2 (PGE2); the EP3 receptor may be involved in inhibition of gastric acid secretion, modulation of neurotransmitter release in central and peripheral neurons, inhibition of sodium and water reabsorption in kidney tubulus and contraction in uterine smooth muscle. The activity of this receptor can couple to both the inhibition of adenylate cyclase mediated by G-I proteins, and to an elevation of intracellular calcium. The various isoforms have identical ligand binding properties but can interact with different second messenger systems ["None"] ["54-78", "92-112", "132-153", "176-197", "228-253", "284-307", "328-349"] NM_001126044.1 186659506 PTGER3 Chromosome:1 1p31.2 PTGER3 HGNC:9595 true 2020-06-12T23:07:11Z 2020-07-28T02:28:30Z 1 0 0 3154 CDBP03153 Astrocytic phosphoprotein PEA-15 Q15121 PEA15_HUMAN false false Enzyme Homo_sapiens PEA15 130 15039.9 4.66 Involved in protein binding Blocks Ras-mediated inhibition of integrin activation and modulates the ERK MAP kinase cascade. Inhibits RPS6KA3 activities by retaining it in the cytoplasm. Inhibits both TNFRSF6- and TNFRSF1A-mediated CASP8 activity and apoptosis. Regulates glucose transport by controlling both the content of SLC2A1 glucose transporters on the plasma membrane and the insulin-dependent trafficking of SLC2A4 from the cell interior to the surface ["None"] ["None"] 1N3K AF153274 5932033 PEA15 Chromosome:1 1q21.1 PEA15 HGNC:8822 true 2020-06-12T23:07:11Z 2020-07-28T02:33:55Z 0 0 0 3155 CDBP03154 Polycystic kidney disease 2-like 1 protein Q9P0L9 PK2L1_HUMAN true false Enzyme Homo_sapiens PKD2L1 805 91981.2 5.16 Involved in calcium ion binding May function as a subunit of an ion channel and act as a transducer of calcium-mediated signaling ["None"] ["104-124", "314-334", "348-368", "385-405", "477-497", "540-560"] NM_016112.2 33598944 PKD2L1 Chromosome:1 10q24 PKD2L1 HGNC:9011 true 2020-06-12T23:07:11Z 2020-07-28T02:28:31Z 0 1 0 3156 CDBP03155 Polycystin-1 P98161 PKD1_HUMAN false false Receptor Homo_sapiens PKD1 4303 462524.8 6.72 Involved in binding May be an ion-channel regulator. PKD1 and PKD2 may function through a common signaling pathway that is necessary for normal tubulogenesis. Involved in adhesive protein-protein and protein-carbohydrate interactions ["1-23"] ["3075-3095", "3283-3303", "3324-3344", "3560-3580", "3583-3603", "3674-3694", "3897-3917", "3939-3959", "3980-4000", "4028-4048", "4086-4106"] 1B4R NM_001009944.2 205360954 PKD1 Chromosome:1 16p13.3 PKD1 HGNC:9008 true 2020-06-12T23:07:11Z 2020-07-28T02:32:19Z 1 0 0 3157 CDBP03156 Polycystin-2 Q13563 PKD2_HUMAN false false Metal Binding Homo_sapiens PKD2 968 109690.2 5.41 Involved in calcium ion binding Functions as a calcium permeable cation channel. PKD1 and PKD2 may function through a common signaling pathway that is necessary for normal tubulogenesis ["None"] ["224-244", "469-489", "506-526", "551-571", "599-619", "659-679"] AF004873 3126905 PKD2 Chromosome:4 4q21-q23 PKD2 HGNC:9009 true 2020-06-12T23:07:11Z 2020-07-28T02:32:03Z 0 1 0 3158 CDBP03157 Prokineticin receptor 1 Q8TCW9 PKR1_HUMAN false false Receptor Homo_sapiens PROKR1 393 44769.4 8.45 Involved in G-protein coupled receptor protein signaling pathway Receptor for prokineticin 1. Exclusively coupled to the G(q) subclass of heteromeric G proteins. Activation leads to mobilization of calcium, stimulation of phosphoinositide turnover and activation of p44/p42 mitogen-activated protein kinase ["None"] ["63-83", "99-119", "147-167", "181-201", "233-253", "283-303", "323-343"] AB084080 25006241 PROKR1 Chromosome:2 2p13.1 PROKR1 HGNC:4524 true 2020-06-12T23:07:11Z 2020-07-28T02:28:31Z 1 0 0 3159 CDBP03158 Prokineticin receptor 2 Q8NFJ6 PKR2_HUMAN false false Receptor Homo_sapiens PROKR2 384 43995.4 8.94 Involved in G-protein coupled receptor protein signaling pathway Receptor for prokineticin 2. Exclusively coupled to the G(q) subclass of heteromeric G proteins. Activation leads to mobilization of calcium, stimulation of phosphoinositide turnover and activation of p44/p42 mitogen-activated protein kinase ["None"] ["55-75", "90-110", "137-157", "172-192", "224-244", "274-294", "314-334"] AB084081 25006243 PROKR2 Chromosome:2 20p12.3 PROKR2 HGNC:15836 true 2020-06-12T23:07:11Z 2020-07-28T02:28:31Z 1 0 0 3160 CDBP03159 Calcium-independent phospholipase A2-gamma Q9NP80 PLPL8_HUMAN true false Enzyme Homo_sapiens PNPLA8 782 88476.085 9.23 Involved in metabolic process Calcium-independent phospholipase A2, which catalyzes the hydrolysis of the sn-2 position of glycerophospholipids, PtdSer and to a lower extent PtdCho. Cleaves membrane phospholipids. AB041261 7670058 PNPLA8 7 7q31 PNPLA8 HGNC:28900 true hsa:50640 NP_001242936.1:NM_001256007.1;NP_001242937.1:NM_001256008.1;NP_001242938.1:NM_001256009.1;NP_001242940.1:NM_001256011.1;NP_056538.1:NM_015723.3 Expressed in parenchymal tissues including heart, skeletal muscle, placenta, brain, liver and pancreas. Also expressed in bronchial epithelial cells and kidney. Highest expression is observed in skeletal muscle and heart. 2020-06-12T23:07:11Z 2020-07-28T02:28:31Z 0 0 0 3161 CDBP03160 Plastin-1 Q14651 PLSI_HUMAN false false Metal Binding Homo_sapiens PLS1 629 70252.7 5.06 Involved in actin binding Actin-bundling protein in the absence of calcium ["None"] ["None"] AK290316 158261655 PLS1 Chromosome:3 3q23 PLS1 HGNC:9090 true 2020-06-12T23:07:11Z 2020-07-28T02:32:03Z 0 1 0 3162 CDBP03161 Periostin Q15063 POSTN_HUMAN false false Enzyme Homo_sapiens POSTN 836 93313.2 7.59 Cell wall/membrane/envelope biogenesis Binds to heparin. Induces cell attachment and spreading and plays a role in cell adhesion. May play a role in extracellular matrix mineralization ["1-21"] ["None"] AL138679 55661657 POSTN Chromosome:1 13q13.3 POSTN HGNC:16953 true 2020-06-12T23:07:11Z 2020-07-28T02:33:55Z 0 0 0 3163 CDBP03162 Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform Q08209 PP2BA_HUMAN true false Enzyme Homo_sapiens PPP3CA 521 58687.27 5.864 Involved in hydrolase activity Calcium-dependent, calmodulin-stimulated protein phosphatase. This subunit may have a role in the calmodulin activation of calcineurin. Dephosphorylates DNM1L, HSPB1 and SSH1. 1AUI;1M63;1MF8;2JOG;2JZI;2P6B;2R28;2W73;3LL8 L14778 306477 PPP3CA 4 4q24 PPP3CA HGNC:9314 true hsa:5530 NP_000935.1:NM_000944.4;NP_001124163.1:NM_001130691.1;NP_001124164.1:NM_001130692.1 Fe(3+) ion;zinc ion Interacts with CHP1 and CHP2 . Composed of two components (A and B), the A component is the catalytic subunit and the B component confers calcium sensitivity. Interacts with CRTC2, MYOZ1, MYOZ2 and MYOZ3. Interacts with DNM1L; the interaction dephosphorylates DNM1L and regulates its translocation to mitochondria. Interacts with CMYA5; this interaction represses calcineurin activity in muscle (By similarity) 2020-06-12T23:07:11Z 2020-07-28T02:28:31Z 0 0 1 3164 CDBP03163 Serine/threonine-protein phosphatase 2B catalytic subunit beta isoform P16298 PP2BB_HUMAN true false Enzyme Homo_sapiens PPP3CB 524 59122.87 5.903 Involved in hydrolase activity Calcium-dependent, calmodulin-stimulated protein phosphatase. This subunit may have a role in the calmodulin activation of calcineurin. M29551 PPP3CB 10 10q22.2 PPP3CB HGNC:9315 true hsa:5532 NP_001135825.1:NM_001142353.1;NP_001135826.1:NM_001142354.1;NP_066955.1:NM_021132.2 Fe(3+) ion;zinc ion Composed of two components (A and B), the A component is the catalytic subunit and the B component confers calcium sensitivity 2020-06-12T23:07:11Z 2020-07-28T02:28:31Z 0 0 1 3165 CDBP03164 Serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform P48454 PP2BC_HUMAN true false Enzyme Homo_sapiens PPP3CC 512 59261.1 6.998 Involved in hydrolase activity Calcium-dependent, calmodulin-stimulated protein phosphatase. This subunit may have a role in the calmodulin activation of calcineurin. NM_005605.3 21361290 PPP3CC 8 8p21.3 PPP3CC HGNC:9316 true hsa:5533 NP_001230903.1:NM_001243974.1;NP_001230904.1:NM_001243975.1;NP_005596.2:NM_005605.4 Testis. Fe(3+) ion;zinc ion Composed of two components (A and B), the A component is the catalytic subunit and the B component confers calcium sensitivity 2020-06-12T23:07:11Z 2020-07-28T02:28:31Z 0 1 0 3166 CDBP03165 Serine/threonine-protein phosphatase with EF-hands 1 O14829 PPE1_HUMAN true false Enzyme Homo_sapiens PPEF1 653 75791.5 6.846 Involved in calcium ion binding May have a role in the recovery or adaptation response of photoreceptors. May have a role in development. AF023455 2586411 PPEF1 X Xp22 PPEF1 HGNC:9243 true hsa:5475 NP_006231.2:NM_006240.2;NP_689410.1:NM_152224.1;NP_689412.1:NM_152226.1 Detected in retina and retinal derived Y-79 retinoblastoma cells. Also found in fetal brain. iron ion;manganese ion;Magnesium 2020-06-12T23:07:11Z 2020-07-28T02:28:31Z 0 1 0 3167 CDBP03166 Serine/threonine-protein phosphatase with EF-hands 2 O14830 PPE2_HUMAN true false Enzyme Homo_sapiens PPEF2 753 86517.3 7.133 Involved in calcium ion binding May play a role in phototransduction. May dephosphorylate photoactivated rhodopsin. May function as a calcium sensing regulator of ionic currents, energy production or synaptic transmission. NM_006239.2 23312386 PPEF2 4 4q21.1 PPEF2 HGNC:9244 true hsa:5470 NP_006230.2:NM_006239.2 Retinal specific. iron ion;manganese ion 2020-06-12T23:07:11Z 2020-07-28T02:28:31Z 1 1 0 3168 CDBP03167 Protein phosphatase 1 regulatory subunit 1A Q13522 PPR1A_HUMAN true false Enzyme Homo_sapiens PPP1R1A 171 19011.2 6.25 Involved in phosphoprotein phosphatase inhibitor activity Inhibitor of protein-phosphatase 1. This protein may be important in hormonal control of glycogen metabolism. Hormones that elevate intracellular cAMP increase I-1 activity in many tissues. I-1 activation may impose cAMP control over proteins that are not directly phosphorylated by PKA. Following a rise in intracellular calcium, I-1 is inactivated by calcineurin (or PP2B). Does not inhibit type-2 phosphatases ["None"] ["None"] AY063766 17978643 PPP1R1A Chromosome:1 12q13.2 PPP1R1A HGNC:9286 true 2020-06-12T23:07:11Z 2020-07-28T02:28:31Z 0 0 0 3169 CDBP03168 Bone marrow proteoglycan P13727 PRG2_HUMAN false false Enzyme Homo_sapiens PRG2 222 25205.3 6.75 Involved in binding Cytotoxin and helminthotoxin. Also induces non-cytolytic histamine release from human basophils. Involved in antiparasitic defense mechanisms and immune hypersensitivity reactions. The proform acts as a proteinase inhibitor, reducing the activity of PAPPA ["1-16"] ["None"] 1H8U Y00809 34476 PRG2 Chromosome:1 11q12 PRG2 HGNC:9362 true 2020-06-12T23:07:11Z 2020-07-28T02:33:55Z 0 0 0 3170 CDBP03169 E3 ubiquitin-protein ligase parkin O60260 PRKN2_HUMAN true false Enzyme Homo_sapiens PARK2 465 51640.3 7.06 Involved in acid-amino acid ligase activity Functions within a multiprotein E3 ubiquitin ligase complex, catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. These substrates include SYT11, CCNE1, GPR37, STUB1, a 22 kDa O-linked glycosylated isoform of SNCAIP, SEPT5 and AIMP2. May play a more general role in the ubiquitin proteasomal pathway by participating in the removal and/or detoxification of abnormally folded or damaged protein. Limits the production of reactive oxygen species (ROS). Loss of this ubiquitin ligase activity appears to be the mechanism underlying pathogenesis of PARK2. May protect neurons against alpha synuclein toxicity, proteasomal dysfunction, GPR37 accumulation, and kainate-induced excitotoxicity. May play a role in controlling neurotransmitter trafficking at the presynaptic terminal and in calcium-dependent exocytosis. Regulates cyclin E during neuronal apoptosis. May represent a tumor suppressor gene ["None"] ["None"] 1IYF AB009973 3063388 PARK2 Chromosome:6 6q25.2-q27 PARK2 HGNC:8607 true 2020-06-12T23:07:11Z 2020-07-28T02:28:31Z 0 1 0 3171 CDBP03170 Salivary acidic proline-rich phosphoprotein 1/2 P02810 PRPC_HUMAN false false Enzyme Homo_sapiens PRH1 166 17016.5 4.43 Involved in protein binding PRP's act as highly potent inhibitors of crystal growth of calcium phosphates. They provide a protective and reparative environment for dental enamel which is important for the integrity of the teeth ["1-16"] ["None"] BC095488 66267613 PRH1 Chromosome:1 12p13.2 PRH1 HGNC:9366 true 2020-06-12T23:07:11Z 2020-07-28T02:33:55Z 0 0 0 3172 CDBP03171 Presenilin-1 P49768 PSN1_HUMAN false false Enzyme Homo_sapiens PSEN1 467 52667.3 4.97 Involved in intracellular signaling pathway Probable catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta-amyloid precursor protein). Requires the other members of the gamma-secretase complex to have a protease activity. May play a role in intracellular signaling and gene expression or in linking chromatin to the nuclear membrane. Stimulates cell-cell adhesion though its association with the E-cadherin/catenin complex. Under conditions of apoptosis or calcium influx, cleaves E-cadherin promoting the disassembly of the E-cadherin/catenin complex and increasing the pool of cytoplasmic beta-catenin, thus negatively regulating Wnt signaling. May also play a role in hematopoiesis ["None"] ["83-103", "133-153", "161-181", "191-211", "221-241", "244-264", "408-428", "433-453"] NM_000021.3 4506163 PSEN1 Chromosome:1 14q24.3 PSEN1 HGNC:9508 true 2020-06-12T23:07:11Z 2020-07-28T02:33:55Z 0 0 0 3173 CDBP03172 Parathyroid hormone/parathyroid hormone-related peptide receptor Q03431 PTH1R_HUMAN false false Receptor Homo_sapiens PTH1R 593 66360.0 8.05 Involved in transmembrane receptor activity This is a receptor for parathyroid hormone and for parathyroid hormone-related peptide. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system ["1-26"] ["189-212", "220-239", "283-306", "321-342", "362-382", "410-428", "441-463"] 1BL1 L04308 PTH1R Chromosome:3 3p22-p21.1 PTH1R HGNC:9608 true 2020-06-12T23:07:11Z 2020-07-28T02:28:32Z 1 0 0 3174 CDBP03173 Peroxidasin homolog Q92626 PXDN_HUMAN false false Enzyme Homo_sapiens PXDN 1479 165273.15 7.173 Involved in peroxidase activity Displays low peroxidase activity and is likely to participate in H(2)O(2) metabolism and peroxidative reactions in the cardiovascular system. Plays a role in extracellular matrix formation. NM_012293.1 109150416 PXDN 2 2p25 PXDN HGNC:14966 true hsa:7837 NP_036425.1:NM_012293.1 Expressed at higher levels in heart, lung, ovary, spleen, intestine and placenta, and at lower levels in liver, colon, pancreas, kidney, thymus, skeletal muscle and prostate. Expressed in tumors such as melanoma, breast cancer, ovarian cancer and glioblastoma. A shorter form probably lacking the signal sequence is found in testis and in EB1 cells undergoing p53/TP53-dependent apoptosis. calcium ion;heme B (iron-protoporphyrin IX) group covalently 2020-06-12T23:07:11Z 2020-07-28T02:33:55Z 1 1 0 3175 CDBP03174 Peroxidasin-like protein A1KZ92 PXDNL_HUMAN false false Metal Binding Homo_sapiens PXDNL 1463 163652.53 7.437 Involved in peroxidase activity Isoform PMR1: Endonuclease selectively degrading some target mRNAs while they are engaged by translating ribosomes, among which albumin and beta-globin mRNAs. NM_144651.4 126517478 PXDNL 8 8q11.22-q11.23 PXDNL HGNC:26359 true hsa:137902 NP_653252.3:NM_144651.4 the 57 kDa isoform PMR1 is the only form detected at protein levels in human cell lines. calcium ion;heme B (iron-protoporphyrin IX) group covalently 2020-06-12T23:07:11Z 2020-07-28T02:32:03Z 0 1 0 3176 CDBP03175 Pyroglutamylated RFamide peptide receptor Q96P65 QRFPR_HUMAN false false Receptor Homo_sapiens QRFPR 431 49487.4 9.51 Involved in G-protein coupled receptor protein signaling pathway Receptor for the orexigenic neuropeptide QRFP. The activity of this receptor is mediated by G proteins that modulate adenylate cyclase activity and intracellular calcium levels ["None"] ["47-67", "82-102", "121-141", "163-183", "213-233", "272-292", "312-332"] AB109629 37651191 QRFPR Chromosome:4 4q27 QRFPR HGNC:15565 true 2020-06-12T23:07:11Z 2020-07-28T02:28:32Z 1 0 0 3177 CDBP03176 Ras GTPase-activating protein 4 O43374 RASL2_HUMAN true false Enzyme Homo_sapiens RASA4 803 90456.8 7.89 Involved in GTPase activator activity Ca(2+)-dependent Ras GTPase-activating protein, that switches off the Ras-MAPK pathway following a stimulus that elevates intracellular calcium. Functions as an adaptor for Cdc42 and Rac1 during FcR-mediated phagocytosis ["None"] ["None"] NM_006989.5 299829177 RASA4 Chromosome:7 7q22 RASA4 HGNC:23181 true 2020-06-12T23:07:11Z 2020-07-28T02:28:32Z 0 0 0 3178 CDBP03177 Calcipressin-1 P53805 RCAN1_HUMAN false false Enzyme Homo_sapiens RCAN1 252 28078.4 4.86 Involved in calcium-mediated signaling Inhibits calcineurin-dependent transcriptional responses by binding to the catalytic domain of calcineurin A. Could play a role during central nervous system development ["None"] ["None"] NM_004414.5 33620725 RCAN1 Chromosome:2 21q22.1-q22.2|21q22.12 RCAN1 HGNC:3040 true 2020-06-12T23:07:11Z 2020-07-28T02:33:55Z 0 0 0 3179 CDBP03178 Reticulocalbin-1 Q15293 RCN1_HUMAN false false Metal Binding Homo_sapiens RCN1 331 38889.7 4.61 Involved in calcium ion binding May regulate calcium-dependent activities in the endoplasmic reticulum lumen or post-ER compartment ["1-29"] ["None"] NM_002901.2 4506455 RCN1 Chromosome:1 11p13 RCN1 HGNC:9934 true 2020-06-12T23:07:11Z 2020-07-28T02:32:03Z 0 1 0 3180 CDBP03179 Reticulocalbin-2 Q14257 RCN2_HUMAN false false Metal Binding Homo_sapiens RCN2 317 36876.1 4.01 Involved in calcium ion binding Not known. Binds calcium ["1-25"] ["None"] NM_002902.2 4506457 RCN2 Chromosome:1 15q23 RCN2 HGNC:9935 true 2020-06-12T23:07:11Z 2020-07-28T02:32:03Z 0 1 0 3181 CDBP03180 Lithostathine-1-alpha P05451 REG1A_HUMAN false false Enzyme Homo_sapiens REG1A 166 18730.8 5.73 Involved in binding Might act as an inhibitor of spontaneous calcium carbonate precipitation. May be associated with neuronal sprouting in brain, and with brain and pancreas regeneration ["1-22"] ["None"] 1LIT AF172331 5764555 REG1A Chromosome:2 2p12 REG1A HGNC:9951 true 2020-06-12T23:07:11Z 2020-07-28T02:33:55Z 0 0 0 3182 CDBP03181 Lithostathine-1-beta P48304 REG1B_HUMAN false false Enzyme Homo_sapiens REG1B 166 18664.6 5.75 Involved in binding Might act as an inhibitor of spontaneous calcium carbonate precipitation. May be associated with neuronal sprouting in brain, and with brain and pancreas regeneration ["1-22"] ["None"] BC027895 20381230 REG1B Chromosome:2 2p12 REG1B HGNC:9952 true 2020-06-12T23:07:11Z 2020-07-28T02:33:55Z 0 0 0 3183 CDBP03182 GTP-binding protein REM 1 O75628 REM1_HUMAN false false Enzyme Homo_sapiens REM1 298 32946.7 9.01 Involved in GTP binding Promotes endothelial cell sprouting and actin cytoskeletal reorganization. May be involved in angiogenesis. May function in Ca(2+) signaling ["None"] ["None"] AF084465 3462896 REM1 Chromosome:2 20q11.21 REM1 HGNC:15922 true 2020-06-12T23:07:11Z 2020-07-28T02:33:55Z 0 0 0 3184 CDBP03183 Regucalcin Q15493 RGN_HUMAN false false Metal Binding Homo_sapiens RGN 299 33252.53 6.253 Involved in calcium ion binding Gluconolactonase with low activity towards other sugar lactones, including gulonolactone and galactonolactone. Can also hydrolyze diisopropyl phosphorofluoridate and phenylacetate (in vitro). Calcium-binding protein. Modulates Ca(2+) signaling, and Ca(2+)-dependent cellular processes and enzyme activities (By similarity). 3G4E;3G4H D31815 RGN X Xp11.3 RGN HGNC:9989 true hsa:9104 NP_004674.1:NM_004683.4;NP_690608.1:NM_152869.2 divalent metal cation . Most active with zinc and manganese ions. The physiological cofactor is most likely calcium or magnesium 2020-06-12T23:07:11Z 2020-07-28T02:32:03Z 0 1 0 3185 CDBP03184 Ras-specific guanine nucleotide-releasing factor 2 O14827 RGRF2_HUMAN false false Enzyme Homo_sapiens RASGRF2 1237 140762.8 7.56 Involved in Rho guanyl-nucleotide exchange factor activity Functions as a calcium-regulated nucleotide exchange factor activating both Ras and RAC1 through the exchange of bound GDP for GTP. Preferentially activates HRAS in vivo compared to RRAS based on their different types of prenylation. Functions in synaptic plasticity by contributing to the induction of long term potentiation ["None"] ["None"] AF023130 2522208 RASGRF2 Chromosome:5 5q13 RASGRF2 HGNC:9876 true 2020-06-12T23:07:11Z 2020-07-28T02:33:55Z 0 0 0 3186 CDBP03185 Rho GTPase-activating protein 32 A7KAX9 RHG32_HUMAN true false Enzyme Homo_sapiens ARHGAP32 2087 230527.1 6.73 Involved in protein binding GTPase-activating protein (GAP) promoting GTP hydrolysis on RHOA, CDC42 and RAC1 small GTPases. May be involved in the differentiation of neuronal cells during the formation of neurite extensions. Involved in NMDA receptor activity-dependent actin reorganization in dendritic spines. May mediate cross-talks between Ras- and Rho-regulated signaling pathways in cell growth regulation. Isoform 2 has higher GAP activity ["None"] ["None"] NM_001142685.1 218083800 ARHGAP32 Chromosome:1 11q24.3 ARHGAP32 HGNC:17399 true 2020-06-12T23:07:11Z 2020-07-28T02:28:32Z 0 0 0 3187 CDBP03186 Regulating synaptic membrane exocytosis protein 1 Q86UR5 RIMS1_HUMAN false false Metal Binding Homo_sapiens RIMS1 1692 189070.9 10.24 Involved in protein binding Rab effector involved in exocytosis. May act as scaffold protein that regulates neurotransmitter release at the active zone. Essential for maintaining normal probability of neurotransmitter release and for regulating release during short- term synaptic plasticity ["None"] ["None"] NM_014989.4 41054864 RIMS1 Chromosome:6 6q12-q13 RIMS1 HGNC:17282 true 2020-06-12T23:07:11Z 2020-07-28T02:32:03Z 0 1 0 3188 CDBP03187 Repetin Q6XPR3 RPTN_HUMAN false false Metal Binding Homo_sapiens RPTN 784 90731.2 6.92 Involved in calcium ion binding Involved in the cornified cell envelope formation. Multifunctional epidermal matrix protein. Reversibly binds calcium ["None"] ["None"] AL589986 220776493 RPTN Chromosome:1 1q21.3 RPTN HGNC:26809 true 2020-06-12T23:07:11Z 2020-07-28T02:32:03Z 0 1 0 3189 CDBP03188 Ryanodine receptor 1 P21817 RYR1_HUMAN false true Receptor Homo_sapiens RYR1 5038 565170.7 4.96 Involved in calcium channel activity Communication between transverse-tubules and sarcoplasmic reticulum. Contraction of skeletal muscle is triggered by release of calcium ions from SR following depolarization of T-tubules ["None"] ["3124-3144", "3188-3206", "3984-4003", "4022-4040", "4278-4301", "4343-4363", "4560-4581", "4649-4672", "4790-4810", "4838-4857", "4880-4899", "4924-4938"] NM_000540.2 113204615 RYR1 Chromosome:1 19q13.1 RYR1 HGNC:10483 true 2020-06-12T23:07:11Z 2020-07-28T02:28:33Z 1 1 0 3190 CDBP03189 Ryanodine receptor 2 Q92736 RYR2_HUMAN false true Receptor Homo_sapiens RYR2 4967 564562.7 5.98 Involved in calcium channel activity Communication between transverse-tubules and sarcoplasmic reticulum. Contraction of cardiac muscle is triggered by release of calcium ions from SR following depolarization of T- tubules ["None"] ["3090-3109", "3153-3171", "3940-3959", "3978-3995", "4233-4256", "4294-4314", "4500-4520", "4578-4600", "4720-4740", "4768-4786", "4810-4827", "4845-4867"] X98330 1526978 RYR2 Chromosome:1 1q43 RYR2 HGNC:10484 true 2020-06-12T23:07:12Z 2020-07-28T02:28:33Z 1 1 0 3191 CDBP03190 Ryanodine receptor 3 Q15413 RYR3_HUMAN false true Receptor Homo_sapiens RYR3 4870 551927.0 5.38 Involved in calcium channel activity Communication between transverse-tubules and sarcoplasmic reticulum. Contraction of skeletal muscle is triggered by release of calcium ions from SR following depolarization of T-tubules ["None"] ["2985-3005", "3049-3067", "3836-3855", "3874-3892", "4132-4153", "4195-4215", "4410-4431", "4482-4505", "4622-4642", "4670-4689", "4712-4731", "4756-4770"] AJ001515 3123584 RYR3 Chromosome:1 15q14-q15 RYR3 HGNC:10485 true 2020-06-12T23:07:12Z 2020-07-28T02:28:33Z 1 1 0 3192 CDBP03191 Protein S100-B P04271 S100B_HUMAN false false Metal Binding Homo_sapiens S100B 92 10713.0 4.25 Involved in calcium ion binding Weakly binds calcium but binds zinc very tightly- distinct binding sites with different affinities exist for both ions on each monomer. Physiological concentrations of potassium ion antagonize the binding of both divalent cations, especially affecting high-affinity calcium-binding sites. Binds to and initiates the activation of STK38 by releasing autoinhibitory intramolecular interactions within the kinase. Interaction with AGER after myocardial infarction may play a role in myocyte apoptosis by activating ERK1/2 and p53/TP53 signaling ["None"] ["None"] 1UWO NM_006272.2 5454034 S100B Chromosome:2 21q22.3 S100B HGNC:10500 true 2020-06-12T23:07:12Z 2020-07-28T02:32:03Z 0 1 0 3193 CDBP03192 Protein S100-P P25815 S100P_HUMAN false false Metal Binding Homo_sapiens S100P 95 10399.8 4.5 Involved in calcium ion binding ["None"] ["None"] 1J55 AF539739 28376391 S100P Chromosome:4 4p16 S100P HGNC:10504 true 2020-06-12T23:07:12Z 2020-07-28T02:32:03Z 0 1 0 3194 CDBP03193 Protein S100-Z Q8WXG8 S100Z_HUMAN false false Metal Binding Homo_sapiens S100Z 99 11619.5 8.21 Involved in calcium ion binding ["None"] ["None"] NM_130772.3 150010678 S100Z Chromosome:5 5q13.3 S100Z HGNC:30367 true 2020-06-12T23:07:12Z 2020-07-28T02:32:03Z 0 1 0 3195 CDBP03194 Protein S100-A1 P23297 S10A1_HUMAN false false Metal Binding Homo_sapiens S100A1 94 10545.8 4.13 Involved in calcium ion binding Weakly binds calcium but binds zinc very tightly- distinct binding sites with different affinities exist for both ions on each monomer. Physiological concentrations of potassium ion antagonize the binding of both divalent cations, especially affecting high-affinity calcium-binding sites ["None"] ["None"] 1K2H X58079 36176 S100A1 Chromosome:1 1q21 S100A1 HGNC:10486 true 2020-06-12T23:07:12Z 2020-07-28T02:32:03Z 0 1 0 3196 CDBP03195 Protein S100-A2 P29034 S10A2_HUMAN false false Metal Binding Homo_sapiens S100A2 98 11116.7 4.42 Involved in calcium ion binding May act as a modulator against excess calcium accumulation in normal human mammary epithelial cells. May also play a role in suppressing tumor cell growth ["None"] ["None"] BC002829 94364865 S100A2 Chromosome:1 1q21 S100A2 HGNC:10492 true 2020-06-12T23:07:12Z 2020-07-28T02:32:03Z 0 1 0 3197 CDBP03196 Protein S100-A3 P33764 S10A3_HUMAN false false Metal Binding Homo_sapiens S100A3 101 11713.3 4.43 Involved in calcium ion binding Binds both calcium and zinc. Probably binds 2 zinc ions per molecule. May be involved in calcium-dependent cuticle cell differentiation and hair shaft formation ["None"] ["None"] 1KSO BC012893 15277622 S100A3 Chromosome:1 1q21 S100A3 HGNC:10493 true 2020-06-12T23:07:12Z 2020-07-28T02:32:03Z 0 1 0 3198 CDBP03197 Protein S100-A4 P26447 S10A4_HUMAN false false Metal Binding Homo_sapiens S100A4 101 11728.4 5.92 Involved in calcium ion binding ["None"] ["None"] 1M31 AK292083 158257598 S100A4 Chromosome:1 1q21 S100A4 HGNC:10494 true 2020-06-12T23:07:12Z 2020-07-28T02:32:03Z 0 1 0 3199 CDBP03198 Protein S100-A10 P60903 S10AA_HUMAN false false Metal Binding Homo_sapiens S100A10 97 11203.1 7.51 Involved in calcium ion binding Because S100A10 induces the dimerization of ANXA2/p36, it may function as a regulator of protein phosphorylation in that the ANXA2 monomer is the preferred target (in vitro) of tyrosine- specific kinase ["None"] ["None"] 1BT6 AK291073 158255582 S100A10 Chromosome:1 1q21 S100A10 HGNC:10487 true 2020-06-12T23:07:12Z 2020-07-28T02:32:03Z 0 1 0 3200 CDBP03199 Protein S100-A11 P31949 S10AB_HUMAN false false Metal Binding Homo_sapiens S100A11 105 11740.3 7.26 Involved in calcium ion binding Facilitates the differentiation and the cornification of keratinocytes ["None"] ["None"] AL591893 55665732 S100A11 Chromosome:1 1q21 S100A11 HGNC:10488 true 2020-06-12T23:07:12Z 2020-07-28T02:32:03Z 0 1 0 3201 CDBP03200 Solute carrier family 22 member 6 Q4U2R8 S22A6_HUMAN false true Transporter Homo_sapiens SLC22A6 563 61815.8 8.88 Involved in ion transmembrane transporter activity Involved in the renal elimination of endogenous and exogenous organic anions. Functions as organic anion exchanger when the uptake of one molecule of organic anion is coupled with an efflux of one molecule of endogenous dicarboxylic acid (glutarate, ketoglutarate, etc). Mediates the sodium-independent uptake of 2,3-dimercapto-1-propanesulfonic acid (DMPS). Mediates the sodium-independent uptake of p- aminohippurate (PAH), ochratoxin (OTA), acyclovir (ACV), 3'-azido- 3-'deoxythymidine (AZT), cimetidine (CMD), 2,4-dichloro- phenoxyacetate (2,4-D), hippurate (HA), indoleacetate (IA), indoxyl sulfate (IS) and 3-carboxy-4-methyl-5-propyl-2- furanpropionate (CMPF), cidofovir, adefovir, 9-(2- phosphonylmethoxyethyl) guanine (PMEG), 9-(2- phosphonylmethoxyethyl) diaminopurine (PMEDAP) and edaravone sulfate. PAH uptake is inhibited by p- chloromercuribenzenesulphonate (PCMBS), diethyl pyrocarbonate (DEPC), sulindac, diclofenac, carprofen, glutarate and okadaic acid. PAH uptake is inhibited by benzothiazolylcysteine (BTC), S-chlorotrifluoroethylcysteine (CTFC), cysteine S-conjugates S-dichlorovinylcysteine (DCVC), furosemide, steviol, phorbol 12-myristate 13-acetate (PMA), calcium ionophore A23187, benzylpenicillin, furosemide, indomethacin, bumetamide, losartan, probenecid, phenol red, urate, and alpha-ketoglutarate ["None"] ["10-30", "136-156", "165-187", "191-213", "225-245", "249-269", "338-358", "369-389", "396-416", "426-446", "456-475", "485-505"] AB009697 4579723 SLC22A6 Chromosome:1 11q12.3 SLC22A6 HGNC:10970 true 2020-06-12T23:07:12Z 2020-06-12T23:07:12Z 0 0 0 3202 CDBP03201 Sodium- and chloride-dependent transporter XTRP3 Q9NP91 S6A20_HUMAN false true Transporter Homo_sapiens SLC6A20 592 65913.3 6.63 Involved in neurotransmitter:sodium symporter activity Mediates the calcium-dependent uptake of imino acids such as L-proline, N-methyl-L-proline and pipecolate as well as N- methylated amino acids ["None"] ["6-26", "43-63", "80-100", "166-186", "195-215", "242-262", "277-297", "390-410", "432-452", "466-486", "505-525", "555-575"] NM_020208.3 11181770 SLC6A20 Chromosome:3 3p21.3 SLC6A20 HGNC:30927 true 2020-06-12T23:07:12Z 2020-07-28T02:32:11Z 0 0 0 3203 CDBP03202 Serum amyloid P-component P02743 SAMP_HUMAN false false Enzyme Homo_sapiens APCS 223 25386.9 6.52 Involved in metal ion binding Can interact with DNA and histones and may scavenge nuclear material released from damaged circulating cells. May also function as a calcium-dependent lectin ["1-19"] ["None"] 1GYK AL445528 55665341 APCS Chromosome:1 1q21-q23 APCS HGNC:584 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3204 CDBP03203 Sarcolipin O00631 SARCO_HUMAN false false Enzyme Homo_sapiens SLN 31 3761.6 9.17 Involved in enzyme regulator activity ["None"] ["8-25"] 1JDM U96093 2642411 SLN Chromosome:1 11q22-q23 SLN HGNC:11089 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3205 CDBP03204 Protein transport protein Sec31A O94979 SC31A_HUMAN false false Enzyme Homo_sapiens SEC31A 1220 133013.6 6.89 Transcription Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules ["None"] ["None"] NM_001077207.2 116256338 SEC31A Chromosome:4 4q21.22 SEC31A HGNC:17052 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3206 CDBP03205 Secretogranin-2 P13521 SCG2_HUMAN false false Enzyme Homo_sapiens SCG2 617 70940.2 4.39 Involved in chemoattractant activity Secretogranin-2 is a neuroendocrine secretory granule protein, which is the precursor for biologically active peptides ["1-27"] ["None"] AC012512 62988856 SCG2 Chromosome:2 2q35-q36 SCG2 HGNC:10575 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3207 CDBP03206 Calcium-binding mitochondrial carrier protein SCaMC-1 Q6NUK1 SCMC1_HUMAN false false Metal Binding Homo_sapiens SLC25A24 477 53354.08 6.33 Involved in calcium ion binding Calcium-dependent mitochondrial solute carrier. Mitochondrial solute carriers shuttle metabolites, nucleotides, and cofactors through the mitochondrial inner membrane. May act as a ATP-Mg/Pi exchanger that mediates the transport of Mg-ATP in exchange for phosphate, catalyzing the net uptake or efflux of adenine nucleotides into or from the mitochondria. NM_013386.3 148491091 SLC25A24 1 1p13.3 SLC25A24 HGNC:20662 true hsa:29957 NP_037518.3:NM_013386.4;NP_998816.1:NM_213651.2 Present in various cell lines (at protein level). Expressed in all tissues tested. Highly expressed in testis, expressed at intermediate level in small intestine and pancreas, and weakly expressed in kidney, spleen, liver, skeletal muscle and heart. 2020-06-12T23:07:12Z 2020-07-28T02:32:03Z 0 1 0 3208 CDBP03207 Calcium-binding mitochondrial carrier protein SCaMC-2 Q6KCM7 SCMC2_HUMAN false false Metal Binding Homo_sapiens SLC25A25 469 55397.38 8.204 Involved in calcium ion binding Calcium-dependent mitochondrial solute carrier. Mitochondrial solute carriers shuttle metabolites, nucleotides, and cofactors through the mitochondrial inner membrane. May act as a ATP-Mg/Pi exchanger that mediates the transport of Mg-ATP in exchange for phosphate, catalyzing the net uptake or efflux of adenine nucleotides into or from the mitochondria. NM_052901.2 56699401 SLC25A25 9 9q34.11 SLC25A25 HGNC:20663 true hsa:114789 NP_001006642.1:NM_001006641.3;NP_001006643.1:NM_001006642.3;NP_001252543.1:NM_001265614.2;NP_443133.2:NM_052901.4 Present in various cell lines (at protein level). Widely expressed. Expressed in fetal and adult liver, skeletal muscle, testis, ovary, hippocampus and caudate nucleus. Isoform 1 is present in all tissues tested. Isoform 2 expression is restricted to kidney and lung. 2020-06-12T23:07:12Z 2020-07-28T02:32:03Z 0 1 0 3209 CDBP03208 Calcium-binding mitochondrial carrier protein SCaMC-3 Q9BV35 SCMC3_HUMAN false true Enzyme Homo_sapiens SLC25A23 468 52377.545 7.327 Involved in transporter activity Calcium-dependent mitochondrial solute carrier. Mitochondrial solute carriers shuttle metabolites, nucleotides, and cofactors through the mitochondrial inner membrane. May act as a ATP-Mg/Pi exchanger that mediates the transport of Mg-ATP in exchange for phosphate, catalyzing the net uptake or efflux of adenine nucleotides into or from the mitochondria. NM_024103.2 48476342 SLC25A23 19 19p13.3 SLC25A23 HGNC:19375 true hsa:79085 NP_077008.2:NM_024103.2 Present in various cell lines (at protein level). Expressed at low levels in most tissues examined, with highest expression in brain, skeletal muscle and pancreas. 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 1 0 3210 CDBP03209 Secernin-1 Q12765 SCRN1_HUMAN false false Enzyme Homo_sapiens SCRN1 414 46381.6 4.39 Involved in dipeptidase activity Regulates exocytosis in mast cells. Increases both the extent of secretion and the sensitivity of mast cells to stimulation with calcium ["None"] ["None"] AB071705 90265801 SCRN1 Chromosome:7 7p14.3-p14.1 SCRN1 HGNC:22192 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3211 CDBP03210 Protein SET Q01105 SET_HUMAN false false Enzyme Homo_sapiens SET 290 33488.6 3.95 Involved in nucleosome assembly Multitasking protein, involved in apoptosis, transcription, nucleosome assembly and histone binding. Isoform 2 anti-apoptotic activity is mediated by inhibition of the GZMA- activated DNase, NME1. In the course of cytotoxic T-lymphocyte (CTL)-induced apoptosis, GZMA cleaves SET, disrupting its binding to NME1 and releasing NME1 inhibition. Isoform 1 and isoform 2 are potent inhibitors of protein phosphatase 2A. Isoform 1 and isoform 2 inhibit EP300/CREBBP and PCAF-mediated acetylation of histones (HAT) and nucleosomes, most probably by masking the accessibility of lysines of histones to the acetylases. The predominant target for inhibition is histone H4. HAT inhibition leads to silencing of HAT-dependent transcription and prevents active demethylation of DNA. Both isoforms stimulate DNA replication of the adenovirus genome complexed with viral core proteins; however, isoform 2 specific activity is higher ["None"] ["None"] NM_001122821.1 170763500 SET Chromosome:9 9q34 SET HGNC:10760 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3212 CDBP03211 Pulmonary surfactant-associated protein A1 Q8IWL2 SFTA1_HUMAN false false Enzyme Homo_sapiens SFTPA1 248 26242.3 4.63 Involved in binding In presence of calcium ions, it binds to surfactant phospholipids and contributes to lower the surface tension at the air-liquid interface in the alveoli of the mammalian lung and is essential for normal respiration ["1-20"] ["None"] AK290703 158254842 SFTPA1 Chromosome:1 10q22.3 SFTPA1 HGNC:10798 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3213 CDBP03212 Sodium/hydrogen exchanger 6 Q92581 SL9A6_HUMAN false true Transporter Homo_sapiens SLC9A6 669 74160.8 6.46 Involved in solute:hydrogen antiporter activity Electroneutral exchange of protons for Na(+) and K(+) across the early and recycling endosome membranes. Contributes to calcium homeostasis ["None"] ["28-48", "71-91", "103-123", "142-162", "179-199", "220-240", "246-266", "292-312", "340-360", "382-402", "404-424", "447-467", "483-503"] AF030409 2944233 SLC9A6 SLC9A6 HGNC:11079 true 2020-06-12T23:07:12Z 2020-07-28T02:32:11Z 0 0 0 3214 CDBP03213 SNARE-associated protein Snapin O95295 SNAPN_HUMAN false false Enzyme Homo_sapiens SNAPIN 136 14873.8 9.78 Involved in SNARE binding May modulate a step between vesicle priming, fusion and calcium-dependent neurotransmitter release by potentiating the interaction of synaptotagmins with the SNAREs and the plasma- membrane-associated protein SNAP25. Its phosphorylation state influences exocytotic protein interactions and may regulate synaptic vesicle exocytosis. May also have a role in the mechanisms of SNARE-mediated membrane fusion in non-neuronal cells ["None"] ["None"] AF086837 4206088 SNAPIN Chromosome:1 1q21.3 SNAPIN HGNC:17145 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3215 CDBP03214 SRC kinase signaling inhibitor 1 Q9C0H9 SRCN1_HUMAN true false Enzyme Homo_sapiens SRCIN1 1055 112452.4 9.82 Involved in protein kinase binding Acts as a negative regulator of SRC by activating CSK which inhibits SRC activity and downstream signaling, leading to impaired cell spreading and migration. Regulates dendritic spine morphology. Involved in calcium-dependent exocytosis. May play a role in neurotransmitter release or synapse maintenance ["None"] ["None"] 115334682 SRCIN1 Chromosome:1 17q12 SRCIN1 HGNC:29506 true 2020-06-12T23:07:12Z 2020-07-28T02:28:34Z 0 0 0 3216 CDBP03215 Alpha-1-syntrophin Q13424 SNTA1_HUMAN false false Enzyme Homo_sapiens SNTA1 505 53894.7 6.79 Involved in protein binding Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the extracellular matrix via the dystrophin glycoprotein complex. Plays an important role in synapse formation and in the organization of UTRN and acetylcholine receptors at the neuromuscular synapse. Binds to phosphatidylinositol 4,5- biphosphate ["None"] ["None"] 1QAV AK291994 158257420 SNTA1 Chromosome:2 20q11.2 SNTA1 HGNC:11167 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3217 CDBP03216 Beta-2-syntrophin Q13425 SNTB2_HUMAN false false Enzyme Homo_sapiens SNTB2 540 57949.0 9.07 Involved in protein binding Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex. May play a role in the regulation of secretory granules via its interaction with PTPRN ["None"] ["None"] NM_006750.3 5803177 SNTB2 Chromosome:1 16q22.1 SNTB2 HGNC:11169 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3218 CDBP03217 Sorcin P30626 SORCN_HUMAN false false Metal Binding Homo_sapiens SRI 198 21676.2 5.21 Involved in calcium ion binding Calcium-binding protein that modulates excitation- contraction coupling in the heart. Contributes to calcium homeostasis in the heart sarcoplasmic reticulum. Modulates the activity of RYR2 calcium channels ["None"] ["None"] 1JUO BC011025 15029636 SRI Chromosome:7 7q21.1 SRI HGNC:11292 true 2020-06-12T23:07:12Z 2020-07-28T02:32:03Z 0 1 0 3219 CDBP03218 Spectrin alpha chain, brain Q13813 SPTA2_HUMAN false false Metal Binding Homo_sapiens SPTAN1 2472 284537.0 5.01 Involved in calcium ion binding Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane ["None"] ["None"] 1U4Q NM_003127.3 154759259 SPTAN1 Chromosome:9 9q34.11 SPTAN1 HGNC:11273 true 2020-06-12T23:07:12Z 2020-07-28T02:32:03Z 0 1 0 3220 CDBP03219 Spectrin beta chain, brain 1 Q01082 SPTB2_HUMAN false false Enzyme Homo_sapiens SPTBN1 2364 274607.0 5.26 Involved in actin binding Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane ["None"] ["None"] M96803 338443 SPTBN1 Chromosome:2 2p21 SPTBN1 HGNC:11275 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3221 CDBP03220 Sarcalumenin Q86TD4 SRCA_HUMAN false false Enzyme Homo_sapiens SRL 932 100787.6 4.04 Involved in GTPase activity May be involved in the regulation of calcium transport ["1-20"] ["None"] 149363672 SRL Chromosome:1 16p13.3 SRL HGNC:11295 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3222 CDBP03221 Sarcoplasmic reticulum histidine-rich calcium-binding protein P23327 SRCH_HUMAN false false Enzyme Homo_sapiens HRC 699 80243.5 4.36 Involved in calcium ion binding May play a role in the regulation of calcium sequestration or release in the SR of skeletal and cardiac muscle ["1-28"] ["None"] BC069795 46854902 HRC Chromosome:1 19q13.3 HRC HGNC:5178 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3223 CDBP03222 Somatostatin receptor type 2 P30874 SSR2_HUMAN false false Receptor Homo_sapiens SSTR2 369 41332.4 9.18 Involved in G-protein coupled receptor protein signaling pathway Receptor for somatostatins-14 and -28. This receptor is coupled via pertussis toxin sensitive G proteins to inhibition of adenylyl cyclase. In addition it stimulates phosphotyrosine phosphatase and PLC via pertussis toxin insensitive as well as sensitive G proteins. In RIN-5F cells, this receptor inhibits calcium entry by suppressing voltage dependent calcium-channels ["None"] ["44-67", "79-103", "119-138", "162-181", "208-229", "254-278", "289-303"] AK290745 SSTR2 Chromosome:1 17q24 SSTR2 HGNC:11331 true 2020-06-12T23:07:12Z 2020-07-28T02:28:35Z 1 0 0 3224 CDBP03223 Translocon-associated protein subunit alpha P43307 SSRA_HUMAN false false Enzyme Homo_sapiens SSR1 286 32235.1 4.11 Involved in signal sequence binding TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins. May be involved in the recycling of the translocation apparatus after completion of the translocation process or may function as a membrane-bound chaperone facilitating folding of translocated proteins ["1-18"] ["208-228"] AF156965 5731113 SSR1 Chromosome:6 6p24.3 SSR1 HGNC:11323 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3225 CDBP03224 Translocon-associated protein subunit beta P43308 SSRB_HUMAN false false Enzyme Homo_sapiens SSR2 183 20134.8 8.79 Involved in signal sequence binding TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins ["1-17"] ["150-169"] AK222600 62896759 SSR2 Chromosome:1 1q21-q23 SSR2 HGNC:11324 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3226 CDBP03225 Translocon-associated protein subunit delta P51571 SSRD_HUMAN false false Enzyme Homo_sapiens SSR4 173 18998.4 6.09 Involved in calcium ion binding TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins ["1-23"] ["145-165"] AK290493 158254418 SSR4 SSR4 HGNC:11326 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3227 CDBP03226 Translocon-associated protein subunit gamma Q9UNL2 SSRG_HUMAN false false Enzyme Homo_sapiens SSR3 185 21080.3 10.17 Involved in cotranslational protein targeting to membrane TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins ["None"] ["28-48", "55-76", "136-157", "164-184"] AF087907 33150654 SSR3 Chromosome:3 3q25.31 SSR3 HGNC:11325 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3228 CDBP03227 Statherin P02808 STAT_HUMAN false false Enzyme Homo_sapiens STATH 62 7304.4 8.82 Involved in extracellular matrix constituent, lubricant Salivary protein that stabilizes saliva supersaturated with calcium salts by inhibiting the precipitation of calcium phosphate salts. It also modulates hydroxyapatite crystal formation on the tooth surface ["1-19"] ["None"] AK311812 189053133 STATH Chromosome:4 4q13.3 STATH HGNC:11369 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3229 CDBP03228 Stanniocalcin-2 O76061 STC2_HUMAN false false Receptor Homo_sapiens STC2 302 33248.3 7.32 Involved in hormone activity Has an anti-hypocalcemic action on calcium and phosphate homeostasis ["1-24"] ["None"] AB012664 3702224 STC2 Chromosome:5 5q35.1 STC2 HGNC:11374 true 2020-06-12T23:07:12Z 2020-07-28T02:32:19Z 1 0 0 3230 CDBP03229 Stromal interaction molecule 1 Q13586 STIM1_HUMAN false false Enzyme Homo_sapiens STIM1 685 77422.8 6.65 Cell cycle control, cell division, chromosome partitioning Plays a role in mediating Ca(2+) influx following depletion of intracellular Ca(2+) stores. Acts as Ca(2+) sensor in the endoplasmic reticulum via its EF-hand domain. Upon Ca(2+) depletion, translocates from the endoplasmic reticulum to the plasma membrane where it activates the Ca(2+) release-activated Ca(2+) (CRAC) channel subunit, TMEM142A/ORAI1 ["1-22"] ["214-234"] BC021300 20987365 STIM1 Chromosome:1 11p15.5 STIM1 HGNC:11386 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3231 CDBP03230 Striatin-3 Q13033 STRN3_HUMAN false false Enzyme Homo_sapiens STRN3 797 87208.6 5.0 Involved in armadillo repeat domain binding Binds calmodulin in a calcium dependent manner. May function as scaffolding or signaling protein ["None"] ["None"] NM_001083893.1 142976686 STRN3 Chromosome:1 14q13-q21 STRN3 HGNC:15720 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3232 CDBP03231 Striatin-4 Q9NRL3 STRN4_HUMAN false false Enzyme Homo_sapiens STRN4 753 80595.3 5.06 Involved in armadillo repeat domain binding Binds calmodulin in a calcium dependent manner. May function as scaffolding or signaling protein ["None"] ["None"] AF212940 6851362 STRN4 Chromosome:1 19q13.2 STRN4 HGNC:15721 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3233 CDBP03232 Syntaxin-binding protein 5 Q5T5C0 STXB5_HUMAN false false Enzyme Homo_sapiens STXBP5 1151 127571.5 7.3 Involved in vesicle-mediated transport Plays a regulatory role in calcium-dependent exocytosis and neurotransmitter release. Inhibits membrane fusion between transport vesicles and the plasma membrane. May modulate the assembly of trans-SNARE complexes between transport vesicles and the plasma membrane. Inhibits translocation of GLUT4 from intracellular vesicles to the plasma membrane. Competes with STXBP1 for STX1 binding ["None"] ["None"] 1URQ NM_001127715.1 189217915 STXBP5 Chromosome:6 6q24.3 STXBP5 HGNC:19665 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3234 CDBP03233 Extracellular sulfatase Sulf-2 Q8IWU5 SULF2_HUMAN true false Enzyme Homo_sapiens SULF2 870 100454.0 9.54 Involved in catalytic activity Exhibits arylsulfatase activity and highly specific endoglucosamine-6-sulfatase activity. It can remove sulfate from the C-6 position of glucosamine within specific subregions of intact heparin ["1-24"] ["None"] NM_001161841.1 240255483 SULF2 Chromosome:2 20q12-q13.2 SULF2 HGNC:20392 true 2020-06-12T23:07:12Z 2020-07-28T02:28:35Z 0 1 0 3235 CDBP03234 Synaptic vesicle glycoprotein 2A Q7L0J3 SV2A_HUMAN false true Transporter Homo_sapiens SV2A 742 82694.7 5.26 Involved in transmembrane transport Plays a role in the control of regulated secretion in neural and endocrine cells, enhancing selectively low-frequency neurotransmission. Positively regulates vesicle fusion by maintaining the readily releasable pool of secretory vesicles ["None"] ["170-190", "206-226", "234-254", "263-283", "295-315", "335-355", "448-468", "599-619", "627-647", "652-672", "686-708", "713-731"] NM_014849.3 216548223 SV2A Chromosome:1 1q21.2 SV2A HGNC:20566 true 2020-06-12T23:07:12Z 2020-07-28T02:32:11Z 0 0 0 3236 CDBP03235 Synaptic vesicle glycoprotein 2B Q7L1I2 SV2B_HUMAN false true Transporter Homo_sapiens SV2B 683 77443.7 5.12 Involved in transmembrane transport Probably plays a role in the control of regulated secretion in neural and endocrine cells ["None"] ["109-129", "149-169", "183-203", "206-226", "238-258", "278-298", "391-411", "536-556", "566-586", "593-613", "627-649", "654-672"] NM_014848.4 7662270 SV2B Chromosome:1 15q26.1 SV2B HGNC:16874 true 2020-06-12T23:07:12Z 2020-07-28T02:32:11Z 0 0 0 3237 CDBP03236 Synaptic vesicle glycoprotein 2C Q496J9 SV2C_HUMAN false true Transporter Homo_sapiens SV2C 727 82341.5 4.67 Involved in transmembrane transport Plays a role in the control of regulated secretion in neural and endocrine cells, enhancing selectively low-frequency neurotransmission. Positively regulates vesicle fusion by maintaining the readily releasable pool of secretory vesicles ["None"] ["155-175", "192-212", "227-247", "249-269", "281-301", "321-341", "438-458", "579-599", "610-630", "637-657", "670-690", "699-719"] NM_014979.1 73695465 SV2C Chromosome:5 5q13.3 SV2C HGNC:30670 true 2020-06-12T23:07:12Z 2020-07-28T02:32:11Z 0 0 0 3238 CDBP03237 Synapsin-3 O14994 SYN3_HUMAN false false Enzyme Homo_sapiens SYN3 580 63302.2 9.86 Involved in catalytic activity May be involved in the regulation of neurotransmitter release and synaptogenesis ["None"] ["None"] AF046873 3090889 SYN3 Chromosome:2 22q12.3 SYN3 HGNC:11496 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3239 CDBP03238 Synaptophysin P08247 SYPH_HUMAN false true Transporter Homo_sapiens SYP 313 33845.1 4.41 Involved in transporter activity Possibly involved in structural functions as organizing other membrane components or in targeting the vesicles to the plasma membrane. Involved in the regulation of short-term and long-term synaptic plasticity ["None"] ["26-49", "107-130", "138-161", "200-223"] AK313030 189053611 SYP SYP HGNC:11506 true 2020-06-12T23:07:12Z 2020-07-28T02:32:11Z 0 0 0 3240 CDBP03239 Synaptotagmin-10 Q6XYQ8 SYT10_HUMAN false true Transporter Homo_sapiens SYT10 523 59126.3 7.7 Involved in transporter activity May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis ["None"] ["56-76"] AY198413 37781775 SYT10 Chromosome:1 12p11.1 SYT10 HGNC:19266 true 2020-06-12T23:07:12Z 2020-07-28T02:32:11Z 0 0 0 3241 CDBP03240 Synaptotagmin-11 Q9BT88 SYT11_HUMAN false true Transporter Homo_sapiens SYT11 431 48296.5 9.45 Involved in transporter activity May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis ["None"] ["16-36"] AK027540 14042290 SYT11 Chromosome:1 1q21.2 SYT11 HGNC:19239 true 2020-06-12T23:07:12Z 2020-07-28T02:32:11Z 0 0 0 3242 CDBP03241 Synaptotagmin-13 Q7L8C5 SYT13_HUMAN false false Enzyme Homo_sapiens SYT13 426 46884.4 7.73 May be involved in transport vesicle docking to the plasma membrane ["None"] ["7-29"] 1WFM NM_020826.2 24308233 SYT13 Chromosome:1 11p12-p11 SYT13 HGNC:14962 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3243 CDBP03242 Synaptotagmin-1 P21579 SYT1_HUMAN false true Transporter Homo_sapiens SYT1 422 47572.8 8.33 Involved in transporter activity May have a regulatory role in the membrane interactions during trafficking of synaptic vesicles at the active zone of the synapse. It binds acidic phospholipids with a specificity that requires the presence of both an acidic head group and a diacyl backbone. A Ca(2+)-dependent interaction between synaptotagmin and putative receptors for activated protein kinase C has also been reported. It can bind to at least three additional proteins in a Ca(2+)-independent manner; these are neurexins, syntaxin and AP2 ["None"] ["58-80"] 1K5W M55047 SYT1 Chromosome:1 12cen-q21 SYT1 HGNC:11509 true 2020-06-12T23:07:12Z 2020-07-28T02:32:11Z 0 0 0 3244 CDBP03243 Synaptotagmin-2 Q8N9I0 SYT2_HUMAN false true Transporter Homo_sapiens SYT2 419 46871.9 8.12 Involved in transporter activity May have a regulatory role in the membrane interactions during trafficking of synaptic vesicles at the active zone of the synapse. It binds acidic phospholipids with a specificity that requires the presence of both an acidic head group and a diacyl backbone ["None"] ["63-83"] AK090672 SYT2 Chromosome:1 1q32.1 SYT2 HGNC:11510 true 2020-06-12T23:07:12Z 2020-07-28T02:32:11Z 0 0 0 3245 CDBP03244 Synaptotagmin-3 Q9BQG1 SYT3_HUMAN false true Transporter Homo_sapiens SYT3 590 63303.2 6.6 Involved in transporter activity May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis ["None"] ["55-75"] 1DQV AL136594 13276689 SYT3 Chromosome:1 19q13.33 SYT3 HGNC:11511 true 2020-06-12T23:07:12Z 2020-07-28T02:32:11Z 0 0 0 3246 CDBP03245 Synaptotagmin-4 Q9H2B2 SYT4_HUMAN false true Transporter Homo_sapiens SYT4 425 47957.8 8.78 Involved in transporter activity May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis ["None"] ["17-37"] 1W16 NM_020783.3 24308219 SYT4 Chromosome:1 18q12.3 SYT4 HGNC:11512 true 2020-06-12T23:07:12Z 2020-07-28T02:32:11Z 0 0 0 3247 CDBP03246 Synaptotagmin-5 O00445 SYT5_HUMAN false true Transporter Homo_sapiens SYT5 386 42900.2 9.57 Involved in transporter activity May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. Regulates the Ca(2+)- dependent secretion of norepinephrine in PC12 cells. Required for export from the endocytic recycling compartment to the cell surface ["None"] ["25-45"] BC046157 28279301 SYT5 Chromosome:1 19q|11p SYT5 HGNC:11513 true 2020-06-12T23:07:12Z 2020-07-28T02:32:11Z 0 0 0 3248 CDBP03247 Synaptotagmin-6 Q5T7P8 SYT6_HUMAN false true Transporter Homo_sapiens SYT6 510 57324.4 8.29 Involved in transporter activity May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis ["None"] ["60-80"] AL162594 123273719 SYT6 Chromosome:1 1p13.2 SYT6 HGNC:18638 true 2020-06-12T23:07:12Z 2020-07-28T02:32:11Z 0 0 0 3249 CDBP03248 Synaptotagmin-7 O43581 SYT7_HUMAN false true Transporter Homo_sapiens SYT7 403 45501.0 9.74 Involved in transporter activity May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis ["None"] ["17-37"] NM_004200.2 38570146 SYT7 Chromosome:1 11q12-q13.1 SYT7 HGNC:11514 true 2020-06-12T23:07:12Z 2020-07-28T02:32:11Z 0 0 0 3250 CDBP03249 Synaptotagmin-9 Q86SS6 SYT9_HUMAN false true Transporter Homo_sapiens SYT9 491 56187.5 7.23 Involved in transporter activity May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis ["None"] ["53-73"] BC046367 28204903 SYT9 Chromosome:1 11p15.4 SYT9 HGNC:19265 true 2020-06-12T23:07:12Z 2020-07-28T02:32:11Z 0 0 0 3251 CDBP03250 Synaptotagmin-like protein 3 Q4VX76 SYTL3_HUMAN false false Metal Binding Homo_sapiens SYTL3 610 68559.1 9.78 Involved in Rab GTPase binding May act as Rab effector protein and play a role in vesicle trafficking. Binds phospholipids in the presence of calcium ions ["None"] ["None"] AL589931 66347777 SYTL3 Chromosome:6 6q25.3 SYTL3 HGNC:15587 true 2020-06-12T23:07:12Z 2020-07-28T02:32:03Z 0 1 0 3252 CDBP03251 Gamma-synuclein O76070 SYUG_HUMAN false false Enzyme Homo_sapiens SNCG 127 13330.8 4.54 Involved in protein binding Plays a role in neurofilament network integrity. May be involved in modulating axonal architecture during development and in the adult. In vitro, increases the susceptibility of neurofilament-H to calcium-dependent proteases. May also function in modulating the keratin network in skin. Activates the MAPK and Elk-1 signal transduction pathway ["None"] ["None"] AF010126 2281474 SNCG Chromosome:1 10q23.2-q23.3 SNCG HGNC:11141 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3253 CDBP03252 Taste receptor type 2 member 10 Q9NYW0 T2R10_HUMAN false false Receptor Homo_sapiens TAS2R10 307 35395.0 9.91 Involved in G-protein coupled receptor activity Gustducin-coupled strychnine receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium- regulated cation channel TRPM5 ["None"] ["7-27", "43-63", "101-121", "127-147", "180-200", "228-248", "258-278"] AF227136 7262619 TAS2R10 Chromosome:1 12p13 TAS2R10 HGNC:14918 true 2020-06-12T23:07:12Z 2020-07-28T02:28:37Z 1 0 0 3254 CDBP03253 Taste receptor type 2 member 16 Q9NYV7 T2R16_HUMAN false false Receptor Homo_sapiens TAS2R16 291 33985.5 9.65 Involved in G-protein coupled receptor activity Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5 ["None"] ["2-22", "42-62", "85-105", "126-146", "183-203", "229-249", "258-278"] AC004838 30142034 TAS2R16 Chromosome:7 7q31.1-q31.3|7q31 TAS2R16 HGNC:14921 true 2020-06-12T23:07:12Z 2020-07-28T02:28:37Z 1 0 0 3255 CDBP03254 Taste receptor type 2 member 40 P59535 T2R40_HUMAN false false Receptor Homo_sapiens TAS2R40 323 36811.4 10.43 Involved in G-protein coupled receptor activity Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5 ["None"] ["15-35", "59-79", "101-121", "141-162", "191-211", "248-268", "277-297"] AF494229 20336515 TAS2R40 Chromosome:7 7q34 TAS2R40 HGNC:18885 true 2020-06-12T23:07:12Z 2020-07-28T02:28:37Z 1 0 0 3256 CDBP03255 Taste receptor type 2 member 3 Q9NYW6 TA2R3_HUMAN false false Receptor Homo_sapiens TAS2R3 316 35914.5 10.16 Involved in G-protein coupled receptor activity Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5 ["None"] ["7-27", "43-63", "95-115", "129-149", "187-207", "235-255", "267-287"] AC004979 41393515 TAS2R3 Chromosome:7 7q31.3-q32 TAS2R3 HGNC:14910 true 2020-06-12T23:07:12Z 2020-07-28T02:28:37Z 1 0 0 3257 CDBP03256 Taste receptor type 2 member 4 Q9NYW5 TA2R4_HUMAN false false Receptor Homo_sapiens TAS2R4 299 33840.2 10.28 Involved in G-protein coupled receptor activity Gustducin-coupled receptor for denatonium and N(6)- propyl-2-thiouracil implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5. In airway epithelial cells, binding of denatonium increases the intracellular calcium ion concentration and stimulates ciliary beat frequency ["None"] ["10-30", "47-67", "82-102", "132-152", "173-193", "231-251", "263-283"] AC004979 41393516 TAS2R4 Chromosome:7 7q31.3-q32 TAS2R4 HGNC:14911 true 2020-06-12T23:07:12Z 2020-07-28T02:28:37Z 1 0 0 3258 CDBP03257 Taste receptor type 2 member 7 Q9NYW3 TA2R7_HUMAN false false Receptor Homo_sapiens TAS2R7 318 36549.5 10.11 Involved in G-protein coupled receptor activity Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5 ["None"] ["10-30", "56-76", "95-115", "129-149", "188-208", "236-256", "267-287"] AF227133 7262613 TAS2R7 Chromosome:1 12p13 TAS2R7 HGNC:14913 true 2020-06-12T23:07:12Z 2020-07-28T02:28:37Z 1 0 0 3259 CDBP03258 Taste receptor type 2 member 9 Q9NYW1 TA2R9_HUMAN false false Receptor Homo_sapiens TAS2R9 312 35610.8 10.39 Involved in G-protein coupled receptor activity Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5 ["None"] ["10-32", "53-72", "87-109", "129-146", "181-203", "235-257", "262-284"] NM_023917.2 12965172 TAS2R9 Chromosome:1 12p13 TAS2R9 HGNC:14917 true 2020-06-12T23:07:12Z 2020-07-28T02:28:37Z 1 0 0 3260 CDBP03259 Transgelin Q01995 TAGL_HUMAN false false Enzyme Homo_sapiens TAGLN 201 22610.8 9.29 Involved in muscle organ development Actin cross-linking/gelling protein. Involved in calcium interactions and contractile properties of the cell that may contribute to replicative senescence ["None"] ["None"] 1UJO AF013711 2501855 TAGLN Chromosome:1 11q23.2 TAGLN HGNC:11553 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3261 CDBP03260 Tubulin beta-2C chain P68371 TBB2C_HUMAN false false Enzyme Homo_sapiens TUBB2C 445 49830.7 4.52 Involved in structural molecule activity Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha-chain ["None"] ["None"] 1SA1 BC001911 12804917 TUBB2C Chromosome:9 9q34 TUBB2C HGNC:20771 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3262 CDBP03261 Tubulin beta-4 chain P04350 TBB4_HUMAN false false Enzyme Homo_sapiens TUBB4 444 49585.5 4.51 Involved in structural molecule activity Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha-chain ["None"] ["None"] 1SA1 AK075307 TUBB4 Chromosome:1 19p13.3 TUBB4 HGNC:20774 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3263 CDBP03262 Tubulin beta chain P07437 TBB5_HUMAN false false Enzyme Homo_sapiens TUBB 444 49670.5 4.52 Involved in structural molecule activity Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha-chain ["None"] ["None"] 1SA1 AF141349 TUBB Chromosome:6 6p21.33 TUBB HGNC:20778 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3264 CDBP03263 Tubulin beta-6 chain Q9BUF5 TBB6_HUMAN false false Enzyme Homo_sapiens TUBB6 446 49856.8 4.51 Involved in structural molecule activity Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha-chain ["None"] ["None"] 1SA1 AK001295 TUBB6 Chromosome:1 18p11.21 TUBB6 HGNC:20776 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3265 CDBP03264 Translationally-controlled tumor protein P13693 TCTP_HUMAN false false Enzyme Homo_sapiens TPT1 172 19595.2 4.57 Involved in calcium ion binding Involved in calcium binding and microtubule stabilization ["None"] ["None"] 1Y41 AJ400717 7573519 TPT1 Chromosome:1 13q14 TPT1 HGNC:12022 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3266 CDBP03265 Tescalcin Q96BS2 TESC_HUMAN false false Metal Binding Homo_sapiens TESC 214 24749.7 4.57 Involved in calcium ion binding Essential for the coupling of ERK cascade activation with the expression of ETS family genes in megakaryocytic differentiation ["None"] ["None"] NM_017899.3 269996002 TESC Chromosome:1 12q24.22 TESC HGNC:26065 true 2020-06-12T23:07:12Z 2020-07-28T02:32:03Z 0 1 0 3267 CDBP03266 Trefoil factor 1 P04155 TFF1_HUMAN false false Enzyme Homo_sapiens TFF1 84 9149.4 4.01 Involved in growth factor activity Stabilizer of the mucous gel overlying the gastrointestinal mucosa that provides a physical barrier against various noxious agents. May inhibit the growth of calcium oxalate crystals in urine ["1-24"] ["None"] 1HI7 AB038162 10280534 TFF1 Chromosome:2 21q22.3 TFF1 HGNC:11755 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3268 CDBP03267 Testican-2 Q92563 TICN2_HUMAN false false Metal Binding Homo_sapiens SPOCK2 424 46778.7 4.45 Involved in calcium ion binding May participate in diverse steps of neurogenesis. Binds calcium ["1-22"] ["None"] AJ001453 3581968 SPOCK2 Chromosome:1 10pter-q25.3 SPOCK2 HGNC:13564 true 2020-06-12T23:07:12Z 2020-07-28T02:32:03Z 0 1 0 3269 CDBP03268 Tuberoinfundibular peptide of 39 residues Q96A98 TIP39_HUMAN false false Enzyme Homo_sapiens PTH2 100 11202.1 12.33 Involved in neuropeptide signaling pathway Plays a role as a potent and selective agonist of PTH2R resulting in adenyl cyclase activation and intracellular calcium levels elevation. Induces protein kinase C beta activation, recruitment of beta-arrestin and PTH2R internalization. May inhibit cell proliferation via its action on PTH2R activation. Neuropeptide which may also have a role in spermatogenesis. May activate nociceptors and nociceptive circuits ["1-30"] ["None"] AY037555 PTH2 Chromosome:1 19q13.33 PTH2 HGNC:30828 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3270 CDBP03269 Trimeric intracellular cation channel type A Q9H6F2 TM38A_HUMAN false true Transporter Homo_sapiens TMEM38A 299 33259.6 8.41 Involved in cation channel activity Monovalent cation channel required for maintenance of rapid intracellular calcium release. May act as a potassium counter-ion channel that functions in synchronization with calcium release from intracellular stores ["None"] ["52-72", "86-106", "145-165", "210-230"] AK025981 10438670 TMEM38A Chromosome:1 19p13.11 TMEM38A HGNC:28462 true 2020-06-12T23:07:12Z 2020-07-28T02:32:11Z 0 0 0 3271 CDBP03270 Trimeric intracellular cation channel type B Q9NVV0 TM38B_HUMAN false true Transporter Homo_sapiens TMEM38B 291 32509.6 9.48 Involved in cation channel activity Monovalent cation channel required for maintenance of rapid intracellular calcium release. May act as a potassium counter-ion channel that functions in synchronization with calcium release from intracellular stores ["None"] ["50-70", "76-96", "141-161", "208-228"] AK001355 7022563 TMEM38B Chromosome:9 9q31.2 TMEM38B HGNC:25535 true 2020-06-12T23:07:12Z 2020-07-28T02:32:11Z 0 0 0 3272 CDBP03271 Troponin C, slow skeletal and cardiac muscles P63316 TNNC1_HUMAN false false Metal Binding Homo_sapiens TNNC1 161 18402.4 3.78 Involved in calcium ion binding Troponin is the central regulatory protein of striated muscle contraction. Tn consists of three components:Tn-I which is the inhibitor of actomyosin ATPase, Tn-T which contains the binding site for tropomyosin and Tn-C. The binding of calcium to Tn-C abolishes the inhibitory action of Tn on actin filaments ["None"] ["None"] 1LA0 NM_003280.2 4507615 TNNC1 Chromosome:3 3p21.1 TNNC1 HGNC:11943 true 2020-06-12T23:07:12Z 2020-07-28T02:32:03Z 0 1 0 3273 CDBP03272 Troponin C, skeletal muscle P02585 TNNC2_HUMAN false false Metal Binding Homo_sapiens TNNC2 160 18121.9 3.81 Involved in calcium ion binding Troponin is the central regulatory protein of striated muscle contraction. Tn consists of three components:Tn-I which is the inhibitor of actomyosin ATPase, Tn-T which contains the binding site for tropomyosin and Tn-C. The binding of calcium to Tn-C abolishes the inhibitory action of Tn on actin filaments ["None"] ["None"] 1A2X NM_003279.2 4507617 TNNC2 Chromosome:2 20q12-q13.11 TNNC2 HGNC:11944 true 2020-06-12T23:07:12Z 2020-07-28T02:32:03Z 0 1 0 3274 CDBP03273 Troponin I, slow skeletal muscle P19237 TNNI1_HUMAN false false Enzyme Homo_sapiens TNNI1 187 21692.1 10.3 Involved in actin binding Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity ["None"] ["None"] NM_003281.3 56682969 TNNI1 Chromosome:1 1q31.3 TNNI1 HGNC:11945 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3275 CDBP03274 Troponin I, fast skeletal muscle P48788 TNNI2_HUMAN false false Enzyme Homo_sapiens TNNI2 182 21338.4 9.17 Involved in actin binding Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity ["None"] ["None"] NM_001145829.1 224967057 TNNI2 Chromosome:1 11p15.5 TNNI2 HGNC:11946 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3276 CDBP03275 Troponin I, cardiac muscle P19429 TNNI3_HUMAN false false Enzyme Homo_sapiens TNNI3 210 24007.3 10.57 Involved in actin binding Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity ["None"] ["None"] 1J1E M64247 339967 TNNI3 Chromosome:1 19q13.4 TNNI3 HGNC:11947 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3277 CDBP03276 Troponin T, slow skeletal muscle P13805 TNNT1_HUMAN false false Enzyme Homo_sapiens TNNT1 278 32947.9 5.89 Translation, ribosomal structure and biogenesis Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity ["None"] ["None"] AJ011712 4056564 TNNT1 Chromosome:1 19q13.4 TNNT1 HGNC:11948 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3278 CDBP03277 Troponin T, cardiac muscle P45379 TNNT2_HUMAN false false Enzyme Homo_sapiens TNNT2 298 35923.2 4.63 Translation, ribosomal structure and biogenesis Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity ["None"] ["None"] 1J1E 48255883 TNNT2 Chromosome:1 1q32 TNNT2 HGNC:11949 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3279 CDBP03278 Troponin T, fast skeletal muscle P45378 TNNT3_HUMAN false false Enzyme Homo_sapiens TNNT3 269 31824.3 5.66 Cell wall/membrane/envelope biogenesis Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity ["None"] ["None"] 5803203 TNNT3 Chromosome:1 11p15.5 TNNT3 HGNC:11950 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3280 CDBP03279 DNA topoisomerase I, mitochondrial Q969P6 TOP1M_HUMAN true false Enzyme Homo_sapiens TOP1MT 601 69871.4 9.94 Involved in DNA binding Relieves DNA strain that arise during duplication of mitochondrial DNA ["None"] ["None"] AF349017 TOP1MT Chromosome:8 8q24.3 TOP1MT HGNC:29787 true 2020-06-12T23:07:12Z 2020-07-28T02:28:38Z 0 0 0 3281 CDBP03280 Prosalusin Q8N2E6 TOR2X_HUMAN false false Enzyme Homo_sapiens TOR2A 242 26261.5 10.75 Involved in ATP binding Salusins -alpha and -beta may be endocrine and/or paracrine factors able to increase intracellular calcium concentrations and induce cell mitogenesis. Salusins may also be potent hypotensive peptides ["1-26"] ["None"] AK075520 22761716 TOR2A Chromosome:9 9q34.11 TOR2A HGNC:11996 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3282 CDBP03281 Protein tyrosine phosphatase type IVA 3 O75365 TP4A3_HUMAN true false Enzyme Homo_sapiens PTP4A3 173 16776.455 9.385 Involved in phosphatase activity Protein tyrosine phosphatase which stimulates progression from G1 into S phase during mitosis. Enhances cell proliferation, cell motility and invasive activity, and promotes cancer metastasis. May be involved in the progression of cardiac hypertrophy by inhibiting intracellular calcium mobilization in response to angiotensin II. 1R6H;1V3A AF041434 3406430 PTP4A3 8 8q24.3 PTP4A3 HGNC:9636 true hsa:11156 NP_009010.2:NM_007079.2;NP_116000.1:NM_032611.1 Mainly expressed in cardiomyocytes and skeletal muscle; also found in pancreas. Consistently overexpressed in colon cancer metastasis. Interacts with tubulin 2020-06-12T23:07:12Z 2020-07-28T02:28:38Z 0 0 0 3283 CDBP03282 Two pore calcium channel protein 1 Q9ULQ1 TPC1_HUMAN false true Transporter Homo_sapiens TPCN1 816 94145.9 8.39 Involved in ion channel activity May function as one of the major voltage-gated Ca(2+) channel (VDCC) across the plasma membrane ["None"] ["113-133", "135-155", "178-198", "235-255", "270-290", "298-318", "445-465", "480-500", "504-526", "574-594", "633-653", "671-691"] NM_017901.4 29725622 TPCN1 Chromosome:1 12q24.13 TPCN1 HGNC:18182 true 2020-06-12T23:07:12Z 2020-07-28T02:32:11Z 0 0 0 3284 CDBP03283 Two pore calcium channel protein 2 Q8NHX9 TPC2_HUMAN false true Transporter Homo_sapiens TPCN2 752 85242.1 7.1 Involved in ion channel activity May function as one of the major voltage-gated Ca(2+) channel (VDCC) across the plasma membrane ["None"] ["85-105", "156-176", "219-239", "290-310", "337-357", "440-460", "466-486", "503-523", "555-575", "581-601", "639-659", "674-694"] NM_139075.3 157502181 TPCN2 Chromosome:1 11q13.3 TPCN2 HGNC:20820 true 2020-06-12T23:07:12Z 2020-07-28T02:32:11Z 0 0 0 3285 CDBP03284 Tropomyosin alpha-1 chain P09493 TPM1_HUMAN false false Enzyme Homo_sapiens TPM1 284 32708.2 4.39 Replication, recombination and repair Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments ["None"] ["None"] 2TMA AK299387 221042692 TPM1 Chromosome:1 15q22.1 TPM1 HGNC:12010 true 2020-06-12T23:07:12Z 2020-07-28T02:33:56Z 0 0 0 3286 CDBP03285 Tropomyosin beta chain P07951 TPM2_HUMAN false false Enzyme Homo_sapiens TPM2 284 32850.4 4.36 Cell cycle control, cell division, chromosome partitioning Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments ["None"] ["None"] 2TMA NM_003289.3 42476296 TPM2 Chromosome:9 9p13 TPM2 HGNC:12011 true 2020-06-12T23:07:12Z 2020-07-28T02:33:57Z 0 0 0 3287 CDBP03286 Tropomyosin alpha-3 chain P06753 TPM3_HUMAN false false Enzyme Homo_sapiens TPM3 284 32818.4 4.38 Cell cycle control, cell division, chromosome partitioning Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments ["None"] ["None"] 2TMA AL590431 55665784 TPM3 Chromosome:1 1q21.2 TPM3 HGNC:12012 true 2020-06-12T23:07:12Z 2020-07-28T02:33:57Z 0 0 0 3288 CDBP03287 Thyrotropin-releasing hormone receptor P34981 TRFR_HUMAN false false Receptor Homo_sapiens TRHR 398 45084.4 8.35 Involved in G-protein coupled receptor protein signaling pathway Receptor for thyrotropin-releasing hormone. This receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system ["None"] ["29-51", "62-83", "100-121", "145-168", "194-215", "267-288", "297-319"] NM_003301.4 4507681 TRHR Chromosome:8 8q23 TRHR HGNC:12299 true 2020-06-12T23:07:12Z 2020-07-28T02:28:38Z 1 0 0 3289 CDBP03288 Trichohyalin Q07283 TRHY_HUMAN false false Metal Binding Homo_sapiens TCHH 1943 253924.4 5.49 Involved in calcium ion binding Intermediate filament-associated protein that associates in regular arrays with keratin intermediate filaments (KIF) of the inner root sheath cells of the hair follicle and the granular layer of the epidermis. It later becomes cross-linked to KIF by isodipeptide bonds. It may serve as scaffold protein, together with involucrin, in the organization of the cell envelope or even anchor the cell envelope to the KIF network. It may be involved in its own calcium-dependent postsynthetic processing during terminal differentiation ["None"] ["None"] AL589986 55665869 TCHH Chromosome:1 1q21.3 TCHH HGNC:11791 true 2020-06-12T23:07:12Z 2020-07-28T02:32:03Z 0 1 0 3290 CDBP03289 Short transient receptor potential channel 1 P48995 TRPC1_HUMAN false true Receptor Homo_sapiens TRPC1 793 91211.0 8.13 Involved in ion channel activity Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Seems to be also activated by intracellular calcium store depletion ["None"] ["387-407", "416-436", "458-475", "540-560", "587-607", "617-637"] U31110 TRPC1 Chromosome:3 3q23 TRPC1 HGNC:12333 true 2020-06-12T23:07:12Z 2020-07-28T02:28:39Z 1 0 0 3291 CDBP03290 Short transient receptor potential channel 4 Q9UBN4 TRPC4_HUMAN false true Receptor Homo_sapiens TRPC4 977 112099.9 7.83 Involved in ion channel activity Form a receptor-activated non-selective calcium permeant cation channel. Acts as a cell-cell contact-dependent endothelial calcium entry channel. Probably operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Mediates cation entry, with an enhanced permeability to barium over calcium. May also be activated by intracellular calcium store depletion ["None"] ["330-350", "363-383", "437-457", "470-490", "512-532", "600-620"] AF063822 TRPC4 Chromosome:1 13q13.3 TRPC4 HGNC:12336 true 2020-06-12T23:07:12Z 2020-07-28T02:28:39Z 1 0 0 3292 CDBP03291 Short transient receptor potential channel 5 Q9UL62 TRPC5_HUMAN false true Receptor Homo_sapiens TRPC5 973 111411.0 7.31 Involved in ion channel activity Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Has also been shown to be calcium-selective. May also be activated by intracellular calcium store depletion ["None"] ["331-351", "399-419", "438-458", "471-491", "513-533", "604-624"] AF054568 6002474 TRPC5 TRPC5 HGNC:12337 true 2020-06-12T23:07:13Z 2020-07-28T02:28:39Z 1 0 0 3293 CDBP03292 Short transient receptor potential channel 6 Q9Y210 TRPC6_HUMAN false true Receptor Homo_sapiens TRPC6 931 106325.3 6.64 Involved in ion channel activity Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Activated by diacylglycerol (DAG) in a membrane-delimited fashion, independently of protein kinase C. Seems not to be activated by intracellular calcium store depletion ["None"] ["439-459", "488-508", "522-542", "593-613", "637-657", "707-727"] AF080394 TRPC6 Chromosome:1 11q22.1 TRPC6 HGNC:12338 true 2020-06-12T23:07:13Z 2020-07-28T02:28:39Z 1 0 0 3294 CDBP03293 Short transient receptor potential channel 7 Q9HCX4 TRPC7_HUMAN false true Receptor Homo_sapiens TRPC7 862 99561.3 7.98 Involved in ion channel activity Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Activated by diacylglycerol (DAG). May also be activated by intracellular calcium store depletion ["None"] ["352-372", "384-404", "466-486", "538-558", "582-602", "652-672"] AJ272034 9798452 TRPC7 Chromosome:5 5q31.1 TRPC7 HGNC:20754 true 2020-06-12T23:07:13Z 2020-07-28T02:28:39Z 1 0 0 3295 CDBP03294 Transient receptor potential cation channel subfamily M member 1 Q7Z4N2 TRPM1_HUMAN false true Receptor Homo_sapiens TRPM1 1603 182177.0 6.82 Involved in ion channel activity Cation channel essential for the depolarizing photoresponse of retinal ON bipolar cells. It is part of the GRM6 signaling cascade. May play a role in metastasis suppression. May act as a spontaneously active, calcium-permeable plasma membrane channel ["None"] ["525-545", "746-766", "831-851", "853-873", "898-918", "929-949", "962-982", "1055-1075", "1106-1126"] NM_002420.4 94538366 TRPM1 Chromosome:1 15q13.3 TRPM1 HGNC:7146 true 2020-06-12T23:07:13Z 2020-07-28T02:28:39Z 1 0 0 3296 CDBP03295 Transient receptor potential cation channel subfamily M member 3 Q9HCF6 TRPM3_HUMAN false true Receptor Homo_sapiens TRPM3 1732 197541.2 7.11 Involved in ion channel activity Calcium channel mediating constitutive calcium ion entry. Its activity is increased by reduction in extracellular osmolarity, by store depletion and muscarinic receptor activation ["None"] ["4-24", "795-815", "898-918", "965-985", "996-1016", "1029-1049", "1117-1137"] NM_001007471 154091314 TRPM3 Chromosome:9 9q21.12 TRPM3 HGNC:17992 true 2020-06-12T23:07:13Z 2020-07-28T02:28:39Z 1 0 0 3297 CDBP03296 Transient receptor potential cation channel subfamily M member 4 Q8TD43 TRPM4_HUMAN false true Receptor Homo_sapiens TRPM4 1214 134299.6 8.2 Involved in ion channel activity Calcium-activated non selective (CAN) cation channel that mediates membrane depolarization. While it is activated by increase in intracellular Ca(2+), it is impermeable to it. Mediates transport of monovalent cations (Na(+) > K(+) > Cs(+) > Li(+)), leading to depolarize the membrane. It thereby plays a central role in cadiomyocytes, neurons from entorhinal cortex, dorsal root and vomeronasal neurons, endocrine pancreas cells, kidney epithelial cells, cochlea hair cells etc. Participates in T-cell activation by modulating Ca(2+) oscillations after T lymphocyte activation, which is required for NFAT-dependent IL2 production. Involved in myogenic constriction of cerebral arteries. Controls insulin secretion in pancreatic beta-cells. May also be involved in pacemaking or could cause irregular electrical activity under conditions of Ca(2+) overload ["None"] ["684-704", "777-797", "869-889", "893-913", "930-950", "1020-1040"] AF497623 20269879 TRPM4 Chromosome:1 19q13.33 TRPM4 HGNC:17993 true 2020-06-12T23:07:13Z 2020-07-28T02:28:39Z 1 0 0 3298 CDBP03297 Transient receptor potential cation channel subfamily V member 2 Q9Y5S1 TRPV2_HUMAN false true Receptor Homo_sapiens TRPV2 764 85980.3 5.64 Involved in ion channel activity Calcium-permeable, non-selective cation channel with an outward rectification. Seems to be regulated, at least in part, by IGF-I, PDGF and neuropeptide head activator. May transduce physical stimuli in mast cells. Activated by temperatures higher than 52 degrees Celsius; is not activated by vanilloids and acidic pH ["None"] ["391-411", "435-455", "472-492", "494-514", "538-558", "622-642"] AF129112 TRPV2 Chromosome:1 17p11.2 TRPV2 HGNC:18082 true 2020-06-12T23:07:13Z 2020-07-28T02:28:39Z 1 0 0 3299 CDBP03298 Transient receptor potential cation channel subfamily V member 3 Q8NET8 TRPV3_HUMAN false false Receptor Homo_sapiens TRPV3 790 90635.1 6.56 Involved in calcium channel activity Putative receptor-activated non-selective calcium permeant cation channel. It is activated by innocuous (warm) temperatures and shows an increased response at noxious temperatures greater than 39 degrees Celsius. Activation exhibits an outward rectification. May associate with TRPV1 and may modulate its activity ["None"] ["440-460", "488-508", "524-544", "546-566", "590-610", "650-670"] AJ487035 21912412 TRPV3 Chromosome:1 17p13.2 TRPV3 HGNC:18084 true 2020-06-12T23:07:13Z 2020-07-28T02:28:39Z 1 0 0 3300 CDBP03299 Transient receptor potential cation channel subfamily V member 5 Q9NQA5 TRPV5_HUMAN false true Receptor Homo_sapiens TRPV5 729 82549.9 6.43 Involved in ion channel activity Constitutively active calcium selective cation channel thought to be involved in Ca(2+) reabsorption in kidney and intestine. The channel is activated by low internal calcium level and the current exhibits an inward rectification. A Ca(2+)- dependent feedback regulation includes fast channel inactivation and slow current decay. Heteromeric assembly with TRPV6 seems to modify channel properties. TRPV5-TRPV6 heteromultimeric concatemers exhibit voltage-dependent gating ["None"] ["329-349", "388-408", "420-440", "449-469", "493-513", "557-577"] AJ271207 17383973 TRPV5 Chromosome:7 7q35 TRPV5 HGNC:3145 true 2020-06-12T23:07:13Z 2020-07-28T02:28:39Z 1 0 0 3301 CDBP03300 Trypsin-1 P07477 TRY1_HUMAN false false Enzyme Homo_sapiens PRSS1 247 26557.9 6.48 Involved in serine-type endopeptidase activity Has activity against the synthetic substrates Boc-Phe- Ser-Arg-Mec, Boc-Leu-Thr-Arg-Mec, Boc-Gln-Ala-Arg-Mec and Boc-Val- Pro-Arg-Mec. The single-chain form is more active than the two- chain form against all of these substrates ["1-15"] ["None"] 1TRN M22612 PRSS1 Chromosome:7 7q32-qter|7q34 PRSS1 HGNC:9475 true 2020-06-12T23:07:13Z 2020-07-28T02:33:57Z 0 0 0 3302 CDBP03301 Trypsin-2 P07478 TRY2_HUMAN false false Enzyme Homo_sapiens PRSS2 247 26487.6 4.54 Involved in serine-type endopeptidase activity Preferential cleavage:Arg-|-Xaa, Lys-|-Xaa ["1-15"] ["None"] 1TRN M27602 PRSS2 Chromosome:7 7q34 PRSS2 HGNC:9483 true 2020-06-12T23:07:13Z 2020-07-28T02:33:57Z 0 0 0 3303 CDBP03302 Trypsin-3 P35030 TRY3_HUMAN false false Enzyme Homo_sapiens PRSS3 304 32528.6 7.54 Involved in serine-type endopeptidase activity Preferential cleavage:Arg-|-Xaa, Lys-|-Xaa ["1-"] ["None"] 1H4W AL139113 57162227 PRSS3 Chromosome:9 9p11.2 PRSS3 HGNC:9486 true 2020-06-12T23:07:13Z 2020-07-28T02:33:57Z 0 0 0 3304 CDBP03303 Tau-tubulin kinase 1 Q5TCY1 TTBK1_HUMAN true false Enzyme Homo_sapiens TTBK1 1321 142735.8 5.3 Involved in protein kinase activity Serine/threonine kinase which is able to phosphorylate TAU on serine, threonine and tyrosine residues. Induces aggregation of TAU ["None"] ["None"] NM_032538.1 58761548 TTBK1 Chromosome:6 6p21.1 TTBK1 HGNC:19140 true 2020-06-12T23:07:13Z 2020-07-28T02:28:39Z 0 0 0 3305 CDBP03304 Alpha-taxilin P40222 TXLNA_HUMAN false false Enzyme Homo_sapiens TXLNA 546 61890.8 6.47 Cell cycle control, cell division, chromosome partitioning May be involved in intracellular vesicle traffic and potentially in calcium-dependent exocytosis in neuroendocrine cells ["None"] ["None"] AF516206 28394224 TXLNA Chromosome:1 1p35.1 TXLNA HGNC:30685 true 2020-06-12T23:07:13Z 2020-07-28T02:33:57Z 0 0 0 3306 CDBP03305 Endoplasmic reticulum resident protein 44 Q9BS26 ERP44_HUMAN false false Enzyme Homo_sapiens ERP44 406 46970.7 4.9 Involved in cell redox homeostasis Mediates thiol-dependent retention in the early secretory pathway, forming mixed disulfides with substrate proteins through its conserved CRFS motif. Inhibits the calcium channel activity of ITPR1. May have a role in the control of oxidative protein folding in the endoplasmic reticulum. Required to retain ERO1L and ERO1LB in the endoplasmic reticulum ["1-29"] ["None"] NM_015051.1 52487191 ERP44 Chromosome:9 9q31.1 ERP44 HGNC:18311 true 2020-06-12T23:07:13Z 2020-07-28T02:33:57Z 0 0 0 3307 CDBP03306 UBX domain-containing protein 4 Q92575 UBXN4_HUMAN false false Enzyme Homo_sapiens UBXN4 508 56776.9 6.26 Involved in protein binding Involved in endoplasmic reticulum-associated protein degradation (ERAD) ["None"] ["None"] AC011893 62630178 UBXN4 Chromosome:2 2q21.3 true 2020-06-12T23:07:13Z 2020-07-28T02:33:57Z 0 0 0 3308 CDBP03307 UDP-glucose:glycoprotein glucosyltransferase 1 Q9NYU2 UGGG1_HUMAN true false Enzyme Homo_sapiens UGGT1 1555 177188.0 5.32 Involved in UDP-glucose:glycoprotein glucosyltransferase activity Recognizes glycoproteins with minor folding defects. Reglucosylates single N-glycans near the misfolded part of the protein, thus providing quality control for protein folding in the endoplasmic reticulum. Reglucosylated proteins are recognized by calreticulin for recycling to the endoplasmic reticulum and refolding or degradation ["1-42"] ["None"] NM_020120.3 9910280 UGGT1 Chromosome:2 2q14.3 UGGT1 HGNC:15663 true 2020-06-12T23:07:13Z 2020-07-28T02:28:40Z 0 0 0 3309 CDBP03308 Protein unc-13 homolog A Q9UPW8 UN13A_HUMAN false false Enzyme Homo_sapiens UNC13A 1703 192996.4 5.0 Involved in intracellular signaling pathway Plays a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. Involved in neurotransmitter release by acting in synaptic vesicle priming prior to vesicle fusion and participates in the activity-dependent refilling of readily releasable vesicle pool (RRP). Essential for synaptic vesicle maturation in most excitatory/glutamatergic but not inhibitory/GABA-mediated synapses. Also involved in secretory granule priming in insulin secretion. Interacts with FBXO45 (via SRY domain); leading to the degradation of UNC13A by the proteasome ["None"] ["None"] 1Y8F NM_001080421.2 283837842 UNC13A Chromosome:1 19p13.11 UNC13A HGNC:23150 true 2020-06-12T23:07:13Z 2020-07-28T02:33:57Z 0 0 0 3310 CDBP03309 Protein unc-13 homolog B O14795 UN13B_HUMAN false false Enzyme Homo_sapiens UNC13B 1591 180677.2 5.84 Involved in intracellular signaling pathway Plays a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. Is involved in neurotransmitter release by acting in synaptic vesicle priming prior to vesicle fusion and participates in the activity- depending refilling of readily releasable vesicle pool (RRP). Essential for synaptic vesicle maturation in a subset of excitatory/glutamatergic but not inhibitory/GABA-mediated synapses ["None"] ["None"] 1Y8F AF020202 2432000 UNC13B Chromosome:9 9p13.3 UNC13B HGNC:12566 true 2020-06-12T23:07:13Z 2020-07-28T02:33:57Z 0 0 0 3311 CDBP03310 Protein unc-13 homolog C Q8NB66 UN13C_HUMAN false false Enzyme Homo_sapiens UNC13C 2214 250909.3 5.71 Involved in intracellular signaling pathway Probably plays a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. Probably is involved in neurotransmitter release ["None"] ["None"] 1Y8F NM_001080534.1 122937514 UNC13C Chromosome:1 15q21.3 UNC13C HGNC:23149 true 2020-06-12T23:07:13Z 2020-07-28T02:33:57Z 0 0 0 3312 CDBP03311 Urotensin-2 receptor Q9UKP6 UR2R_HUMAN false false Receptor Homo_sapiens UTS2R 389 42129.9 11.06 Involved in G-protein coupled receptor protein signaling pathway High affinity receptor for urotensin-2 and urotensin-2B. The activity of this receptor is mediated by a G-protein that activate a phosphatidylinositol-calcium second messenger system ["None"] ["55-77", "88-113", "125-146", "168-186", "210-232", "259-284", "298-318"] AF140631 5902616 UTS2R Chromosome:1 17q25.3 UTS2R HGNC:4468 true 2020-06-12T23:07:13Z 2020-07-28T02:28:40Z 1 0 0 3313 CDBP03312 Vesicle-associated membrane protein 4 O75379 VAMP4_HUMAN false false Enzyme Homo_sapiens VAMP4 141 16396.7 7.52 Involved in vesicle-mediated transport Involved in the pathway that functions to remove an inhibitor (probably synaptotagmin-4) of calcium-triggered exocytosis during the maturation of secretory granules. May be a marker for this sorting pathway that is critical for remodeling the secretory response of granule ["None"] ["116-136"] AF044310 3248920 VAMP4 Chromosome:1 1q24-q25 VAMP4 HGNC:12645 true 2020-06-12T23:07:13Z 2020-07-28T02:33:57Z 0 0 0 3314 CDBP03313 Vesicle-associated membrane protein 7 P51809 VAMP7_HUMAN false false Enzyme Homo_sapiens VAMP7 220 24934.8 8.79 Involved in vesicle-mediated transport Involved in the targeting and/or fusion of transport vesicles to their target membrane during transport of proteins from the early endosome to the lysosome. Required for heterotypic fusion of late endosomes with lysosomes and homotypic lysosomal fusion. Required for calcium regulated lysosomal exocytosis. Involved in the export of chylomicrons from the endoplasmic reticulum to the cis Golgi. Required for exocytosis of mediators during eosinophil and neutrophil degranulation, and target cell killing by natural killer cells. Required for focal exocytosis of late endocytic vesicles during phagosome formation ["None"] ["189-209"] AJ271736 8979792 VAMP7 VAMP7 HGNC:11486 true 2020-06-12T23:07:13Z 2020-07-28T02:33:57Z 0 0 0 3315 CDBP03314 Villin-1 P09327 VILI_HUMAN false false Enzyme Homo_sapiens VIL1 827 92694.6 6.35 Involved in actin binding Ca(2+)-regulated actin-binding protein ["None"] ["None"] NM_007127.2 194394237 VIL1 Chromosome:2 2q35 VIL1 HGNC:12690 true 2020-06-12T23:07:13Z 2020-07-28T02:33:57Z 0 0 0 3316 CDBP03315 Visinin-like protein 1 P62760 VISL1_HUMAN false false Metal Binding Homo_sapiens VSNL1 191 22142.2 4.76 Involved in calcium ion binding Regulates (in vitro) the inhibition of rhodopsin phosphorylation in a calcium-dependent manner ["None"] ["None"] AB001104 6440479 VSNL1 Chromosome:2 2p24.3 VSNL1 HGNC:12722 true 2020-06-12T23:07:13Z 2020-07-28T02:32:03Z 0 1 0 3317 CDBP03316 Chemokine XC receptor 1 P46094 XCR1_HUMAN false false Receptor Homo_sapiens XCR1 333 38507.0 8.68 Involved in G-protein coupled receptor protein signaling pathway Receptor for chemokines SCYC1 and SCYC2. Subsequently transduces a signal by increasing the intracellular calcium ions level ["None"] ["32-59", "70-89", "104-125", "143-167", "191-209", "226-250", "268-291"] AY275469 30526192 XCR1 Chromosome:3 3p21.3-p21.1|3p21.3 XCR1 HGNC:1625 true 2020-06-12T23:07:13Z 2020-07-28T02:28:40Z 1 0 0 3318 CDBP03317 Protein Z-dependent protease inhibitor Q9UK55 ZPI_HUMAN true false Enzyme Homo_sapiens SERPINA10 444 50706.6 8.58 Involved in serine-type endopeptidase inhibitor activity Inhibits factor Xa activity in the presence of protein Z, calcium and phospholipid ["1-21"] ["None"] AF181467 5834412 SERPINA10 Chromosome:1 14q32.13 SERPINA10 HGNC:15996 true 2020-06-12T23:07:13Z 2020-07-28T02:28:40Z 0 0 0 3319 CDBP03318 ATP-binding cassette sub-family C member 11 Q96J66 ABCCB_HUMAN false true Transporter Homo_sapiens ABCC11 1382 154299.6 8.15 Involved in ATP binding Participates in physiological processes involving bile acids, conjugated steroids and cyclic nucleotides. Enhances the cellular extrusion of cAMP and cGMP. Stimulates the ATP-dependent uptake of a range of physiological and synthetic lipophilic anions, including the glutathione S-conjugates leukotriene C4 and dinitrophenyl S-glutathione, steroid sulfates such as dehydroepiandrosterone 3-sulfate (DHEAS) and estrone 3-sulfate, glucuronides such as estradiol 17-beta-D-glucuronide (E(2)17betaG), the monoanionic bile acids glycocholate and taurocholate, and methotrexate. Probably functions to secrete earwax ["None"] ["164-184", "195-215", "271-291", "297-317", "384-404", "418-438", "807-827", "864-884", "931-951", "1050-1070"] AY040219 15027829 ABCC11 Chromosome:1 16q12.1 ABCC11 HGNC:14639 true 2020-06-12T23:07:13Z 2020-06-12T23:07:13Z 0 0 0 3320 CDBP03319 ADM2 Q7Z4H4 ADM2_HUMAN false false Receptor Homo_sapiens ADM2 148 15865.2 12.31 Involved in hormone activity IMDL and IMDS may play a role as physiological regulators of gastrointestinal, cardiovascular bioactivities mediated by the CALCRL/RAMPs receptor complexes. Activates the cAMP-dependent pathway ["1-24"] ["None"] AB121034 41016726 ADM2 Chromosome:2 22q13.33 ADM2 HGNC:28898 true 2020-06-12T23:07:13Z 2020-07-28T02:32:19Z 1 0 0 3321 CDBP03320 A-kinase anchor protein 7 isoform gamma Q9P0M2 AKA7G_HUMAN true false Enzyme Homo_sapiens AKAP7 326 37058.9 5.76 Involved in catalytic activity Probably targets cAMP-dependent protein kinase (PKA) to the cellular membrane or cytoskeletal structures ["None"] ["None"] AF152929 6759917 AKAP7 Chromosome:6 6q23 AKAP7 HGNC:377 true 2020-06-12T23:07:13Z 2020-07-28T02:28:40Z 0 0 0 3322 CDBP03321 A-kinase anchor protein 2 Q9Y2D5 AKAP2_HUMAN true false Enzyme Homo_sapiens AKAP2 859 94659.7 4.76 Involved in enzyme binding Binds to regulatory subunit (RII) of protein kinase A. May be involved in establishing polarity in signaling systems or in integrating PKA-RII isoforms with downstream effectors to capture, amplify and focus diffuse, trans-cellular signals carried by cAMP ["None"] ["None"] AK300427 194390790 AKAP2 Chromosome:9 9q31.3 AKAP2 HGNC:372 true 2020-06-12T23:07:13Z 2020-07-28T02:28:40Z 0 0 0 3323 CDBP03322 A-kinase anchor protein 5 P24588 AKAP5_HUMAN true false Enzyme Homo_sapiens AKAP5 427 47087.8 4.58 Involved in protein binding May anchor the PKA protein to cytoskeletal and/or organelle-associated proteins, targeting the signal carried by cAMP to specific intracellular effectors. Association with to the beta2-adrenergic receptor (beta2-AR) not only regulates beta2-AR signaling pathway, but also the activation by PKA by switching off the beta2-AR signaling cascade ["None"] ["None"] NM_004857.3 158187521 AKAP5 Chromosome:1 14q21-q24 AKAP5 HGNC:375 true 2020-06-12T23:07:13Z 2020-07-28T02:28:40Z 0 0 0 3324 CDBP03323 A-kinase anchor protein 8 O43823 AKAP8_HUMAN true false Enzyme Homo_sapiens AKAP8 692 76107.7 4.77 Involved in DNA binding Anchoring protein that mediates the subcellular compartmentation of cAMP-dependent protein kinase (PKA type II) ["None"] ["None"] AC005785 3702291 AKAP8 Chromosome:1 19p13.1 AKAP8 HGNC:378 true 2020-06-12T23:07:13Z 2020-07-28T02:28:40Z 0 1 0 3325 CDBP03324 Agouti-signaling protein P42127 ASIP_HUMAN false false Enzyme Homo_sapiens ASIP 132 14514.9 10.34 Involved in hormone-mediated signaling pathway Involved in the regulation of melanogenesis. The binding of ASP to MC1R precludes alpha-MSH initiated signaling and thus blocks production of cAMP, leading to a down-regulation of eumelanogenesis (brown/black pigment) and thus increasing synthesis of pheomelanin (yellow/red pigment). In higher primates, agouti may affect the quality of hair pigmentation rather than its pattern of deposition. Could well play a role in neuroendocrine aspects of melanocortin action. May have some functional role in regulating the lipid metabolism with adipocytes ["1-22"] ["None"] 1Y7K AL035458 8953446 ASIP Chromosome:2 20q11.2-q12 ASIP HGNC:745 true 2020-06-12T23:07:13Z 2020-07-28T02:33:57Z 0 0 0 3326 CDBP03325 Cyclic AMP-dependent transcription factor ATF-1 P18846 ATF1_HUMAN false false Transcription Factor Homo_sapiens ATF1 271 29232.4 8.64 Involved in sequence-specific DNA binding transcription factor activity This protein binds the cAMP response element (CRE) (consensus:5'-GTGACGT[AC][AG]-3'), a sequence present in many viral and cellular promoters. Binds to the Tax-responsive element (TRE) of HTLV-I. Mediates PKA-induced stimulation of CRE-reporter genes ["None"] ["None"] BC029619 20810445 ATF1 Chromosome:1 12q13 ATF1 HGNC:783 true 2020-06-12T23:07:13Z 2020-07-28T02:32:06Z 0 0 1 3327 CDBP03326 Cyclic AMP-dependent transcription factor ATF-2 P15336 ATF2_HUMAN false false Enzyme Homo_sapiens ATF2 505 54536.9 8.01 Involved in sequence-specific DNA binding transcription factor activity Transcriptional activator, probably constitutive, which binds to the cAMP-responsive element (CRE) (consensus:5'- GTGACGT[AC][AG]-3'), a sequence present in many viral and cellular promoters. Interaction with JUN redirects JUN to bind to CRES preferentially over the 12-O-tetradecanoylphorbol-13-acetate response elements (TRES) as part of an ATF2/JUN complex ["None"] ["None"] 1T2K X15875 30215 ATF2 Chromosome:2 2q32 ATF2 HGNC:784 true 2020-06-12T23:07:13Z 2020-07-28T02:33:57Z 0 1 1 3328 CDBP03327 Cyclic AMP-dependent transcription factor ATF-3 P18847 ATF3_HUMAN false false Transcription Factor Homo_sapiens ATF3 181 20575.4 8.76 Involved in sequence-specific DNA binding transcription factor activity This protein binds the cAMP response element (CRE) (consensus:5'-GTGACGT[AC][AG]-3'), a sequence present in many viral and cellular promoters. Represses transcription from promoters with ATF sites. It may repress transcription by stabilizing the binding of inhibitory cofactors at the promoter. Isoform 2 activates transcription presumably by sequestering inhibitory cofactors away from the promoters ["None"] ["None"] AY426987 37574508 ATF3 Chromosome:1 1q32.3 ATF3 HGNC:785 true 2020-06-12T23:07:13Z 2020-07-28T02:32:06Z 0 0 1 3329 CDBP03328 Cyclic AMP-dependent transcription factor ATF-4 P18848 ATF4_HUMAN false false Transcription Factor Homo_sapiens ATF4 351 38589.1 4.58 Involved in sequence-specific DNA binding transcription factor activity Transcriptional activator. Binds the cAMP response element (CRE) (consensus:5'-GTGACGT[AC][AG]-3'), a sequence present in many viral and cellular promoters. It binds to a Tax- responsive enhancer element in the long terminal repeat of HTLV-I ["None"] ["None"] 1CI6 AL022312 5102567 ATF4 Chromosome:2 22q13.1 ATF4 HGNC:786 true 2020-06-12T23:07:13Z 2020-07-28T02:32:06Z 0 0 1 3330 CDBP03329 Cyclic AMP-dependent transcription factor ATF-5 Q9Y2D1 ATF5_HUMAN false false Transcription Factor Homo_sapiens ATF5 282 30673.9 4.61 Involved in sequence-specific DNA binding transcription factor activity Transcriptional activator which binds the cAMP response element (CRE) (consensus:5'-GTGACGT[AC][AG]-3'), a sequence present in many viral and cellular promoters and blocks the differentiation of neuroprogenitor cells into neurons. Its transcriptional activity is enhanced by CCND3 and slightly inhibited by CDK4 ["None"] ["None"] AB021663 12583650 ATF5 Chromosome:1 19q13.3 ATF5 HGNC:790 true 2020-06-12T23:07:13Z 2020-07-28T02:32:06Z 0 0 1 3331 CDBP03330 Cyclic AMP-dependent transcription factor ATF-7 P17544 ATF7_HUMAN false false Enzyme Homo_sapiens ATF7 494 52966.9 8.89 Involved in sequence-specific DNA binding transcription factor activity Isoform 4/ATF-A0 acts as a dominant repressor of the E- selectin/NF-ELAM1/delta-A promoter ["None"] ["None"] AK298853 194385140 ATF7 Chromosome:1 12q13 ATF7 HGNC:792 true 2020-06-12T23:07:13Z 2020-07-28T02:33:57Z 0 1 1 3332 CDBP03331 Basic leucine zipper transcriptional factor ATF-like Q16520 BATF_HUMAN false false Transcription Factor Homo_sapiens BATF 125 14119.5 9.17 Involved in sequence-specific DNA binding transcription factor activity Functions as a negative regulator of AP-1 mediated transcription by binding to Jun proteins. Jun/B-ATF heterodimers bind DNA preferentially at the 12-O-tetradecanoylphorbol-13- acetate response element (TRE) (consensus:5'-TGA[CG]TCA-3') and weaker at the cAMP-responsive region (CRE) (consensus:5'- GTGACGT[AC][AG]-3'), but are transcriptionally inert ["None"] ["None"] AC007182 5764706 BATF Chromosome:1 14q24.3 BATF HGNC:958 true 2020-06-12T23:07:13Z 2020-07-28T02:32:06Z 0 0 1 3333 CDBP03332 Cyclic nucleotide-gated olfactory channel Q16280 CNGA2_HUMAN false true Transporter Homo_sapiens CNGA2 664 76047.5 6.14 Involved in ion channel activity Odorant signal transduction is probably mediated by a G- protein coupled cascade using cAMP as second messenger. The olfactory channel can be shown to be activated by cyclic nucleotides which leads to a depolarization of olfactory sensory neurons ["None"] ["139-159", "172-192", "225-245", "275-295", "351-371", "454-474"] BC126302 116496687 CNGA2 CNGA2 HGNC:2149 true 2020-06-12T23:07:13Z 2020-07-28T02:32:12Z 0 0 0 3334 CDBP03333 Cyclic AMP-responsive element-binding protein 3-like protein 1 Q96BA8 CR3L1_HUMAN false false Transcription Factor Homo_sapiens CREB3L1 519 57004.8 4.81 Involved in sequence-specific DNA binding transcription factor activity Transcription factor that acts during endoplasmic reticulum stress by activating unfolded protein response target genes. Specifically involved in ER-stress response in astrocytes in the central nervous system (By similartity). May play a role in gliosis. In vitro, binds to box-B element, cAMP response element (CRE) and CRE-like sequences, and activates transcription through box-B element but not through CRE ["None"] ["375-395"] AB063321 21668502 CREB3L1 Chromosome:1 11p11.2 CREB3L1 HGNC:18856 true 2020-06-12T23:07:13Z 2020-07-28T02:32:06Z 0 0 1 3335 CDBP03334 Cyclic AMP-responsive element-binding protein 3-like protein 2 Q70SY1 CR3L2_HUMAN false false Transcription Factor Homo_sapiens CREB3L2 520 57414.3 5.13 Involved in sequence-specific DNA binding transcription factor activity Transcriptional activator which is processed and activated during endoplasmic reticulum stress late phase. Binds to the cAMP response element (CRE) and activates transcription through CRE. Regulates the transcription of unfolded protein response target genes, preventing accumulation of unfolded proteins in damaged neurons. Also regulates the expression of SEC23A, accelerating protein trafficking from the ER to the Golgi thereby playing a key role in chondrocyte differentiation and formation of epiphyseal cartilage ["None"] ["380-400"] NM_194071.2 56550067 CREB3L2 Chromosome:7 7q34 CREB3L2 HGNC:23720 true 2020-06-12T23:07:13Z 2020-07-28T02:32:06Z 0 0 1 3336 CDBP03335 Cyclic AMP-responsive element-binding protein 3-like protein 3 Q68CJ9 CR3L3_HUMAN false false Transcription Factor Homo_sapiens CREB3L3 461 49076.6 4.76 Involved in sequence-specific DNA binding transcription factor activity Transcription factor that may act during endoplasmic reticulum stress by activating unfolded protein response target genes. Activated in response to cAMP stimulation. In vitro, binds to the cAMP response element (CRE) and box-B element. Activates transcription through box-B element. Activates transcription through CRE. Seems to function synergistically with ATF6. In acute inflammatory response, may activate expression of acute phase response (APR) genes. May be involved in growth suppression ["None"] ["323-343"] AB050902 13990957 CREB3L3 Chromosome:1 19p13.3 CREB3L3 HGNC:18855 true 2020-06-12T23:07:13Z 2020-07-28T02:32:06Z 0 0 1 3337 CDBP03336 Cyclic AMP-responsive element-binding protein 3 O43889 CREB3_HUMAN false false Transcription Factor Homo_sapiens CREB3 395 43916.7 4.57 Involved in sequence-specific DNA binding transcription factor activity Transcription factors activated upon intramembrane proteolysis (RIP), binds the cAMP response element (CRE) (consensus:5'-GTGACGT[AG][AG]-3'), a sequence present in many viral and cellular promoters. Binds to and requires HCFC1 as a coactivator. Activity and expression are suppressed when the HCFC1-CREB3 complex binds with CREBZF. Participates in LKN- 1/CCL15-induced chemotaxis signaling ["None"] ["255-271"] U88528 2911282 CREB3 Chromosome:9 9p13.3 CREB3 HGNC:2347 true 2020-06-12T23:07:13Z 2020-07-28T02:32:06Z 0 0 1 3338 CDBP03337 Luc7-like protein 3 O95232 LC7L3_HUMAN false false Enzyme Homo_sapiens LUC7L3 432 51465.7 10.46 Involved in DNA binding Binds cAMP regulatory element DNA sequence. May play a role in RNA splicing ["None"] ["None"] AB034205 6899846 LUC7L3 Chromosome:1 17q21.33 LUC7L3 HGNC:24309 true 2020-06-12T23:07:13Z 2020-07-28T02:33:57Z 0 0 0 3339 CDBP03338 CREB-regulated transcription coactivator 3 Q6UUV7 CRTC3_HUMAN false false Enzyme Homo_sapiens CRTC3 619 66958.7 6.83 Involved in interspecies interaction between organisms Transcriptional coactivator for CREB1 which activates transcription through both consensus and variant cAMP response element (CRE) sites. Acts as a coactivator, in the SIK/TORC signaling pathway, being active when dephosphorylated and acts independently of CREB1 'Ser-133' phosphorylation. Enhances the interaction of CREB1 with TAF4. Regulates the expression of specific CREB-activated genes such as the steroidogenic gene, StAR. Potent coactivator of PPARGC1A and inducer of mitochondrial biogenesis in muscle cells. Also coactivator for TAX activation of the human T-cell leukemia virus type 1 (HTLV-1) long terminal repeats (LTR) ["None"] ["None"] NM_022769.3 110431354 CRTC3 Chromosome:1 15q26.1 CRTC3 HGNC:26148 true 2020-06-12T23:07:13Z 2020-07-28T02:33:57Z 0 0 0 3340 CDBP03339 Dematin Q08495 DEMA_HUMAN false false Enzyme Homo_sapiens EPB49 405 45513.9 9.36 Involved in actin binding Actin-bundling protein. May function in mitogen- activated protein kinase pathway ["None"] ["None"] 1QZP NM_001114135.2 166706877 EPB49 Chromosome:8 8p21.1 EPB49 HGNC:3382 true 2020-06-12T23:07:13Z 2020-07-28T02:33:57Z 0 0 0 3341 CDBP03340 Erythrocyte membrane protein band 4.2 P16452 EPB42_HUMAN false false Enzyme Homo_sapiens EPB42 691 77008.5 8.17 Involved in protein-glutamine gamma-glutamyltransferase activity Probably plays an important role in the regulation of erythrocyte shape and mechanical properties ["None"] ["None"] NM_001114134.1 166362737 EPB42 Chromosome:1 15q15-q21 EPB42 HGNC:3381 true 2020-06-12T23:07:13Z 2020-07-28T02:33:57Z 0 0 0 3342 CDBP03341 FERM, RhoGEF and pleckstrin domain-containing protein 1 Q9Y4F1 FARP1_HUMAN false false Enzyme Homo_sapiens FARP1 1045 118631.9 8.27 Involved in Rho guanyl-nucleotide exchange factor activity May function as Rho-guanine nucleotide exchange factor ["None"] ["None"] AB008430 2766165 FARP1 Chromosome:1 13q32.2 FARP1 HGNC:3591 true 2020-06-12T23:07:13Z 2020-07-28T02:33:57Z 0 0 0 3343 CDBP03342 G-protein coupled bile acid receptor 1 Q8TDU6 GPBAR_HUMAN false false Receptor Homo_sapiens GPBAR1 330 35247.8 9.62 Involved in G-protein coupled receptor protein signaling pathway Receptor for bile acid. Bile acid-binding induces its internalization, activation of extracellular signal-regulated kinase and intracellular cAMP production. May be involved in the suppression of macrophage functions by bile acids ["None"] ["20-40", "51-71", "86-106", "126-146", "166-186", "229-249", "262-282"] AB083601 20152266 GPBAR1 Chromosome:2 2q35 GPBAR1 HGNC:19680 true 2020-06-12T23:07:13Z 2020-07-28T02:28:41Z 1 0 0 3344 CDBP03343 Glycoprotein hormone alpha-2 Q96T91 GPHA2_HUMAN false false Receptor Homo_sapiens GPHA2 129 14163.3 8.27 Involved in hormone activity Stimulates the thyroid. Binds and activates THSR, leads to increased cAMP production ["1-23"] ["None"] AF260739 14009506 GPHA2 Chromosome:1 11q13.1 GPHA2 HGNC:18054 true 2020-06-12T23:07:13Z 2020-07-28T02:32:19Z 1 0 0 3345 CDBP03344 Glycoprotein hormone beta-5 Q86YW7 GPHB5_HUMAN false false Receptor Homo_sapiens GPHB5 130 14231.5 7.82 Involved in hormone activity Stimulates the thyroid. Binds and activates THSR, leading to increased cAMP production ["1-24"] ["None"] AF403430 21427594 GPHB5 Chromosome:1 14q23.2 GPHB5 HGNC:18055 true 2020-06-12T23:07:13Z 2020-07-28T02:32:19Z 1 0 0 3346 CDBP03345 Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 Q9Y3Q4 HCN4_HUMAN false true Transporter Homo_sapiens HCN4 1203 129040.7 9.15 Involved in ion channel activity Hyperpolarization-activated ion channel with very slow activation and inactivation exhibiting weak selectivity for potassium over sodium ions. May contribute to the native pacemaker currents in heart (If) and in neurons (Ih). Activated by cAMP. May mediate responses to sour stimuli ["None"] ["267-287", "294-314", "341-361", "369-389", "421-441", "497-517"] 1Q3E AJ132429 4775353 HCN4 Chromosome:1 15q24.1 HCN4 HGNC:16882 true 2020-06-12T23:07:13Z 2020-07-28T02:32:12Z 0 0 0 3347 CDBP03346 Histamine H4 receptor Q9H3N8 HRH4_HUMAN false false Receptor Homo_sapiens HRH4 390 44495.4 9.92 Involved in G-protein coupled receptor protein signaling pathway The H4 subclass of histamine receptors could mediate the histamine signals in peripheral tissues. Displays a significant level of constitutive activity (spontaneous activity in the absence of agonist) ["None"] ["20-40", "53-73", "88-108", "132-152", "173-193", "305-325", "342-362"] AB044934 10241847 HRH4 Chromosome:1 18q11.2 HRH4 HGNC:17383 true 2020-06-12T23:07:13Z 2020-07-28T02:28:41Z 1 0 0 3348 CDBP03347 cAMP-dependent protein kinase inhibitor alpha P61925 IPKA_HUMAN true false Enzyme Homo_sapiens PKIA 76 7988.4 4.18 Involved in cAMP-dependent protein kinase inhibitor activity Extremely potent competitive inhibitor of cAMP-dependent protein kinase activity, this protein interacts with the catalytic subunit of the enzyme after the cAMP-induced dissociation of its regulatory chains ["None"] ["None"] 1CMK AF234641 7208450 PKIA Chromosome:8 8q21.12 PKIA HGNC:9017 true 2020-06-12T23:07:13Z 2020-07-28T02:28:42Z 0 0 0 3349 CDBP03348 cAMP-dependent protein kinase inhibitor beta Q9C010 IPKB_HUMAN true false Enzyme Homo_sapiens PKIB 78 8468.2 4.5 Involved in cAMP-dependent protein kinase inhibitor activity Extremely potent competitive inhibitor of cAMP-dependent protein kinase activity, this protein interacts with the catalytic subunit of the enzyme after the cAMP-induced dissociation of its regulatory chains ["None"] ["None"] AF087873 20086435 PKIB Chromosome:6 6q22.31 PKIB HGNC:9018 true 2020-06-12T23:07:13Z 2020-07-28T02:28:42Z 0 0 0 3350 CDBP03349 cAMP-dependent protein kinase inhibitor gamma Q9Y2B9 IPKG_HUMAN true false Enzyme Homo_sapiens PKIG 76 7910.4 3.87 Involved in cAMP-dependent protein kinase inhibitor activity Extremely potent competitive inhibitor of cAMP-dependent protein kinase activity, this protein interacts with the catalytic subunit of the enzyme after the cAMP-induced dissociation of its regulatory chains ["None"] ["None"] AB019517 4760551 PKIG Chromosome:2 20q12-q13.1 PKIG HGNC:9019 true 2020-06-12T23:07:13Z 2020-07-28T02:28:42Z 0 0 0 3351 CDBP03350 Jun dimerization protein 2 Q8WYK2 JDP2_HUMAN false false Transcription Factor Homo_sapiens JDP2 163 18703.5 9.9 Involved in sequence-specific DNA binding transcription factor activity Component of the AP-1 transcription factor that represses transactivation mediated by the Jun family of proteins. Involved in a variety of transcriptional responses associated with AP-1 such as UV-induced apoptosis, cell differentiation, tumorigenesis and antitumogeneris. Can also function as a repressor by recruiting histone deacetylase 3/HDAC3 to the promoter region of JUN. May control transcription via direct regulation of the modification of histones and the assembly of chromatin ["None"] ["None"] AB077880 18181974 JDP2 Chromosome:1 14q24.3 JDP2 HGNC:17546 true 2020-06-12T23:07:13Z 2020-07-28T02:32:06Z 0 0 1 3352 CDBP03351 cAMP-dependent protein kinase type I-beta regulatory subunit P31321 KAP1_HUMAN true false Enzyme Homo_sapiens PRKAR1B 381 43072.6 5.41 Involved in cAMP-dependent protein kinase regulator activity ["None"] ["None"] 1RL3 AK315951 221045290 PRKAR1B Chromosome:7 7p22 PRKAR1B HGNC:9390 true 2020-06-12T23:07:13Z 2020-07-28T02:28:42Z 0 0 0 3353 CDBP03352 cAMP-dependent protein kinase type II-alpha regulatory subunit P13861 KAP2_HUMAN true false Enzyme Homo_sapiens PRKAR2A 404 45518.0 4.7 Involved in cAMP-dependent protein kinase regulator activity Type II regulatory chains mediate membrane association by binding to anchoring proteins, including the MAP2 kinase ["None"] ["None"] X14968 29648 PRKAR2A Chromosome:3 3p21.3-p21.2 PRKAR2A HGNC:9391 true 2020-06-12T23:07:13Z 2020-07-28T02:28:42Z 0 0 0 3354 CDBP03353 cAMP-dependent protein kinase type II-beta regulatory subunit P31323 KAP3_HUMAN true false Enzyme Homo_sapiens PRKAR2B 418 46301.7 4.55 Involved in cAMP-dependent protein kinase regulator activity Type II regulatory chains mediate membrane association by binding to anchoring proteins, including the MAP2 kinase ["None"] ["None"] 1CX4 AK291441 158256318 PRKAR2B Chromosome:7 7q22 PRKAR2B HGNC:9392 true 2020-06-12T23:07:13Z 2020-07-28T02:28:42Z 0 0 0 3355 CDBP03354 Potassium voltage-gated channel subfamily A member 10 Q16322 KCA10_HUMAN false true Transporter Homo_sapiens KCNA10 511 57784.5 4.57 Involved in protein binding Mediates voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient. The channel activity is up-regulated by cAMP ["None"] ["218-238", "271-292", "303-323", "339-358", "375-395", "436-456"] BC074990 50959682 KCNA10 Chromosome:1 1p13.1 KCNA10 HGNC:6219 true 2020-06-12T23:07:13Z 2020-07-28T02:32:12Z 0 0 0 3356 CDBP03355 Potassium voltage-gated channel subfamily E member 3 Q9Y6H6 KCNE3_HUMAN false true Transporter Homo_sapiens KCNE3 103 11710.3 9.01 Involved in voltage-gated potassium channel activity Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Associated with KCNC4/Kv3.4 is proposed to form the subthreshold voltage-gated potassium channel in skeletal muscle and to establish the resting membrane potential (RMP) in muscle cells. Associated with KCNQ1/KCLQT1 may form the intestinal cAMP-stimulated potassium channel involved in chloride secretion ["None"] ["58-78"] AF076531 4704429 KCNE3 Chromosome:1 11q13.4 KCNE3 HGNC:6243 true 2020-06-12T23:07:13Z 2020-07-28T02:32:12Z 0 0 0 3357 CDBP03356 Potassium voltage-gated channel subfamily H member 1 O95259 KCNH1_HUMAN false true Enzyme Homo_sapiens KCNH1 989 111421.8 7.63 Involved in ion channel activity Pore-forming (alpha) subunit of voltage-gated non- inactivating delayed rectifier potassium channel. Channel properties may be modulated by cAMP and subunit assembly. Mediates IK(NI) current in myoblasts ["None"] ["221-241", "249-269", "295-315", "350-370", "377-397", "478-498"] NM_172362.2 27437001 KCNH1 Chromosome:1 1q32.2 KCNH1 HGNC:6250 true 2020-06-12T23:07:13Z 2020-07-28T02:33:57Z 0 0 1 3358 CDBP03357 Potassium voltage-gated channel subfamily H member 3 Q9ULD8 KCNH3_HUMAN false true Enzyme Homo_sapiens KCNH3 1083 117127.7 7.98 Involved in ion channel activity Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits an outward current with fast inactivation. Channel properties may be modulated by cAMP and subunit assembly ["None"] ["229-249", "260-280", "303-323", "332-352", "362-382", "480-500"] AB022696 KCNH3 Chromosome:1 12q13 KCNH3 HGNC:6252 true 2020-06-12T23:07:13Z 2020-07-28T02:33:57Z 0 0 1 3359 CDBP03358 Potassium voltage-gated channel subfamily H member 4 Q9UQ05 KCNH4_HUMAN false true Enzyme Homo_sapiens KCNH4 1017 111692.1 8.63 Involved in ion channel activity Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits an outward current, but shows no inactivation. Channel properties may be modulated by cAMP and subunit assembly ["None"] ["229-249", "260-280", "303-323", "333-353", "362-382", "483-503"] AB022698 KCNH4 Chromosome:1 17q21.2 KCNH4 HGNC:6253 true 2020-06-12T23:07:13Z 2020-07-28T02:33:57Z 0 0 1 3360 CDBP03359 Potassium voltage-gated channel subfamily H member 5 Q8NCM2 KCNH5_HUMAN false true Enzyme Homo_sapiens KCNH5 988 111905.7 7.62 Involved in ion channel activity Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a non-inactivating outward rectifying current. Channel properties may be modulated by cAMP and subunit assembly ["None"] ["218-238", "244-264", "292-312", "320-340", "347-367", "447-467"] AF418206 20799308 KCNH5 Chromosome:1 14q23.1 KCNH5 HGNC:6254 true 2020-06-12T23:07:13Z 2020-07-28T02:33:57Z 0 0 1 3361 CDBP03360 Potassium voltage-gated channel subfamily H member 7 Q9NS40 KCNH7_HUMAN false true Enzyme Homo_sapiens KCNH7 1196 134998.5 7.69 Involved in ion channel activity Pore-forming (alpha) subunit of voltage-gated potassium channel. Channel properties may be modulated by cAMP and subunit assembly ["None"] ["413-433", "450-470", "495-515", "522-542", "550-570", "642-662"] NM_033272.2 27886653 KCNH7 Chromosome:2 2q24.2 KCNH7 HGNC:18863 true 2020-06-12T23:07:13Z 2020-07-28T02:33:57Z 0 0 1 3362 CDBP03361 Potassium voltage-gated channel subfamily H member 8 Q96L42 KCNH8_HUMAN false true Enzyme Homo_sapiens KCNH8 1107 123803.1 6.91 Involved in ion channel activity Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a slowly activating, outward rectifying current. Channel properties may be modulated by cAMP and subunit assembly ["None"] ["226-246", "256-276", "299-319", "328-348", "358-378", "449-469"] NM_144633.2 27886667 KCNH8 Chromosome:3 3p24.3 KCNH8 HGNC:18864 true 2020-06-12T23:07:13Z 2020-07-28T02:33:57Z 0 0 1 3363 CDBP03362 Leucine zipper putative tumor suppressor 1 Q9Y250 LZTS1_HUMAN false false Enzyme Homo_sapiens LZTS1 596 66612.4 7.1 Cell cycle control, cell division, chromosome partitioning Involved in the regulation of cell growth. May stabilize the active CDC2-cyclin B1 complex and thereby contribute to the regulation of the cell cycle and the prevention of uncontrolled cell proliferation. May act as a tumor suppressor ["None"] ["None"] NM_021020.2 10440566 LZTS1 Chromosome:8 8p22 LZTS1 HGNC:13861 true 2020-06-12T23:07:13Z 2020-07-28T02:33:57Z 0 0 0 3364 CDBP03363 Homeobox protein Meis1 O00470 MEIS1_HUMAN false false Transcription Factor Homo_sapiens MEIS1 390 43015.8 6.31 Involved in sequence-specific DNA binding transcription factor activity Acts as a transcriptional regulator of PAX6. Acts as a transcriptional activator of PF4 in complex with PBX1 or PBX2. Required for hematopoiesis, megakaryocyte lineage development and vascular patterning. May function as a cofactor for HOXA7 and HOXA9 in the induction of myeloid leukemias ["None"] ["None"] NM_002398.2 4505151 MEIS1 Chromosome:2 2p14 MEIS1 HGNC:7000 true 2020-06-12T23:07:13Z 2020-07-28T02:32:06Z 0 0 1 3365 CDBP03364 Mas-related G-protein coupled receptor member D Q8TDS7 MRGRD_HUMAN false false Receptor Homo_sapiens MRGPRD 321 36117.2 9.04 Involved in G-protein coupled receptor protein signaling pathway May regulate nociceptor function and/or development, including the sensation or modulation of pain. Functions as a specific membrane receptor for beta-alanine. Beta-alanine at micromolar doses specifically evoked Ca(2+) influx in cells expressing the receptor. Beta-alanine decreases forskolin- stimulated cAMP production in cells expressing the receptor, suggesting that the receptor couples with G-protein G(q) and G(i) ["None"] ["34-54", "60-80", "113-133", "143-163", "185-205", "219-239", "258-280"] NM_198923.2 42794265 MRGPRD Chromosome:1 11q13.3 MRGPRD HGNC:29626 true 2020-06-12T23:07:13Z 2020-07-28T02:28:43Z 1 0 0 3366 CDBP03365 Mas-related G-protein coupled receptor member X2 Q96LB1 MRGX2_HUMAN false false Receptor Homo_sapiens MRGPRX2 330 37098.7 8.04 Involved in G-protein coupled receptor protein signaling pathway Orphan receptor. Probably involved in the function of nociceptive neurons. May regulate nociceptor function and/or development, including the sensation or modulation of pain. Cortistatin-14 seems to be a high potency ligand at this receptor. Cortistatin has several biological functions including roles in sleep regulation locomotor activity, and cortical function. In receptor-expressing cells, cortistatin-stimulated increases in intracellular Ca(2+) but had no effect on basal or forskolin- stimulated cAMP levels, suggesting that this receptor is G(q)- coupled ["None"] ["34-54", "64-84", "97-117", "145-165", "185-205", "229-249", "265-285"] AB065811 21928888 MRGPRX2 Chromosome:1 11p15.1 MRGPRX2 HGNC:17983 true 2020-06-12T23:07:13Z 2020-07-28T02:28:43Z 1 0 0 3367 CDBP03366 Myomegalin Q5VU43 MYOME_HUMAN false false Enzyme Homo_sapiens PDE4DIP 2346 265077.7 5.14 Replication, recombination and repair May function as an anchor sequestering components of the cAMP-dependent pathway to Golgi and/or centrosomes ["None"] ["None"] NM_014644.4 157311604 PDE4DIP Chromosome:1 1q12 PDE4DIP HGNC:15580 true 2020-06-12T23:07:13Z 2020-07-28T02:33:57Z 0 0 0 3368 CDBP03367 Na(+)/H(+) exchange regulatory cofactor NHE-RF2 Q15599 NHRF2_HUMAN false false Enzyme Homo_sapiens SLC9A3R2 337 37413.5 8.06 Involved in protein binding Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3. May also act as scaffold protein in the nucleus ["None"] ["None"] NM_001130012.1 194018553 SLC9A3R2 Chromosome:1 16p13.3 SLC9A3R2 HGNC:11076 true 2020-06-12T23:07:13Z 2020-07-28T02:33:57Z 0 0 0 3369 CDBP03368 Non-POU domain-containing octamer-binding protein Q15233 NONO_HUMAN false false Enzyme Homo_sapiens NONO 471 54231.3 9.49 Involved in nucleotide binding DNA- and RNA binding protein, involved in several nuclear processes. Binds the conventional octamer sequence in double stranded DNA. Also binds single-stranded DNA and RNA at a site independent of the duplex site. Involved in pre-mRNA splicing, probably as an heterodimer with SFPQ. Interacts with U5 snRNA, probably by binding to a purine-rich sequence located on the 3' side of U5 snRNA stem 1b. The SFPQ-NONO heteromer associated with MATR3 may play a role in nuclear retention of defective RNAs. The SFPQ-NONO heteromer may be involved in DNA unwinding by modulating the function of topoisomerase I/TOP1. The SFPQ-NONO heteromer may be involved in DNA nonhomologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination and may stabilize paired DNA ends. In vitro, the complex strongly stimulates DNA end joining, binds directly to the DNA substrates and cooperates with the Ku70/G22P1-Ku80/XRCC5 (Ku) dimer to establish a functional preligation complex. Nono is involved in transcriptional regulation. The SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional avtivity. NONO binds to an enhancer element in long terminal repeats of endogenous intracisternal A particles (IAPs) and activates transcription ["None"] ["None"] BC002364 12803121 NONO NONO HGNC:7871 true 2020-06-12T23:07:13Z 2020-07-28T02:33:57Z 0 0 0 3370 CDBP03369 Pre-B-cell leukemia transcription factor 1 P40424 PBX1_HUMAN false false Transcription Factor Homo_sapiens PBX1 430 46625.5 7.04 Involved in sequence-specific DNA binding transcription factor activity Binds the sequence 5'-ATCAATCAA-3'. Acts as a transcriptional activator of PF4 in complex with MEIS1. Converted into a potent transcriptional activator by the (1;19) translocation. May have a role in steroidogenesis and, subsequently, sexual development and differentiation ["None"] ["None"] 1B72 AF313404 11120612 PBX1 Chromosome:1 1q23 PBX1 HGNC:8632 true 2020-06-12T23:07:13Z 2020-07-28T02:32:06Z 0 0 1 3371 CDBP03370 Prostaglandin E2 receptor EP2 subtype P43116 PE2R2_HUMAN false false Receptor Homo_sapiens PTGER2 358 39759.9 9.19 Involved in G-protein coupled receptor protein signaling pathway Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(s) proteins that stimulate adenylate cyclase. The subsequent raise in intracellular cAMP is responsible for the relaxing effect of this receptor on smooth muscle ["None"] ["24-47", "66-91", "112-132", "152-176", "199-223", "263-286", "300-323"] AF134202 5524235 PTGER2 Chromosome:1 14q22 PTGER2 HGNC:9594 true 2020-06-12T23:07:13Z 2020-07-28T02:28:43Z 1 0 0 3372 CDBP03371 Phosducin P20941 PHOS_HUMAN false false Enzyme Homo_sapiens PDC 246 28245.7 4.79 Involved in phospholipase inhibitor activity May participate in the regulation of visual phototransduction or in the integration of photoreceptor metabolism ["None"] ["None"] AL596220 55960903 PDC Chromosome:1 1q25.2 PDC HGNC:8759 true 2020-06-12T23:07:13Z 2020-07-28T02:33:58Z 0 0 0 3373 CDBP03372 Paired mesoderm homeobox protein 2B Q99453 PHX2B_HUMAN false false Transcription Factor Homo_sapiens PHOX2B 314 31620.6 9.1 Involved in sequence-specific DNA binding transcription factor activity Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. Enhances second-messenger-mediated activation of the dopamine beta-hydrolase and c-fos promoters, and of several enhancers including cAMP-response element and serum- response element ["None"] ["None"] AB015671 5672611 PHOX2B Chromosome:4 4p12 PHOX2B HGNC:9143 true 2020-06-12T23:07:13Z 2020-07-28T02:32:06Z 0 0 1 3374 CDBP03373 Phospholemman O00168 PLM_HUMAN false true Transporter Homo_sapiens FXYD1 92 10441.0 9.41 Involved in ion channel activity Induces a hyperpolarization-activated chloride current when expressed in Xenopus oocytes. May have a functional role in muscle contraction ["1-20"] ["36-56"] AK289811 158260645 FXYD1 Chromosome:1 19q13.1 FXYD1 HGNC:4025 true 2020-06-12T23:07:13Z 2020-07-28T02:32:12Z 0 0 0 3375 CDBP03374 Protein prune homolog Q86TP1 PRUNE_HUMAN false false Metal Binding Homo_sapiens PRUNE 453 50199.04 5.502 Involved in pyrophosphatase activity Phosphodiesterase (PDE) that has higher activity toward cAMP than cGMP, as substrate. Plays a role in cell proliferation, is able to induce cell motility and acts as a negative regulator of NME1. AF051907 4007408 PRUNE 1 1q21 PRUNE HGNC:13420 true hsa:58497 NP_067045.1:NM_021222.1 Ubiquitously expressed. Seems to be overexpressed in aggressive sarcoma subtypes, such as leiomyosarcomas and malignant fibrous histiocytomas (MFH) as well as in the less malignant liposarcomas. manganese ions Homooligomer. Able to homodimerize via its C-terminal domain. Interacts with NME1. Interacts with GSK3; at focal adhesion complexes where paxillin and vinculin are colocalized 2020-06-12T23:07:13Z 2020-07-28T02:32:03Z 0 1 0 3376 CDBP03375 Tyrosine-protein phosphatase non-receptor type 7 P35236 PTN7_HUMAN false false Receptor Homo_sapiens PTPN7 360 45002.02 7.328 Involved in phosphatase activity Protein phosphatase that acts preferentially on tyrosine-phosphorylated MAPK1. Plays a role in the regulation of T and B-lymphocyte development and signal transduction. 1ZC0;2A3K;2GP0;2GPH;2HVL;2QDC;2QDM;2QDP;3D42;3D44;3O4S;3O4T;3O4U NM_002832.2 18375658 PTPN7 1 1q32.1 PTPN7 HGNC:9659 true hsa:5778 NP_542155.1:NM_080588.2 Expressed exclusively in thymus and spleen. Monomer. Interacts with MAPK1, MAPK3 and several other MAP kinases 2020-06-12T23:07:13Z 2020-07-28T02:28:43Z 1 0 0 3377 CDBP03376 Ras-related protein Rap-1b P61224 RAP1B_HUMAN false false Enzyme Homo_sapiens RAP1B 184 20824.7 5.39 Involved in GTP binding GTP-binding protein that possesses intrinsic GTPase activity ["None"] ["None"] 1C1Y AB062128 21104380 RAP1B Chromosome:1 12q14 RAP1B HGNC:9857 true 2020-06-12T23:07:13Z 2020-07-28T02:33:58Z 0 0 0 3378 CDBP03377 Ras-related protein Rap-2a P10114 RAP2A_HUMAN false false Enzyme Homo_sapiens RAP2A 183 20615.3 4.45 Involved in GTP binding ["None"] ["None"] 3RAP X12534 35861 RAP2A Chromosome:1 13q34 RAP2A HGNC:9861 true 2020-06-12T23:07:13Z 2020-07-28T02:33:58Z 0 0 0 3379 CDBP03378 FMRFamide-related peptides Q9HCQ7 RFRP_HUMAN false false Enzyme Homo_sapiens NPVF 196 22326.4 9.52 Involved in G-protein coupled receptor activity Neuropeptides NPSF and NPVF efficiently inhibit forskolin-induced production of cAMP, but RFRP-2 shows no inhibitory activity. Neuropeptide NPSF induces secretion of prolactin in rats. Neuropeptide NPVF blocks morphine-induced analgesia ["1-26"] ["None"] AB040290 11125708 NPVF Chromosome:7 7p21-p15 NPVF HGNC:13782 true 2020-06-12T23:07:13Z 2020-07-28T02:33:58Z 0 0 0 3380 CDBP03379 Rhophilin-2 Q8IUC4 RHPN2_HUMAN false false Enzyme Homo_sapiens RHPN2 686 76992.6 6.79 Involved in signal transduction Binds specifically to GTP-Rho. May function in a Rho pathway to limit stress fiber formation and/or increase the turnover of F-actin structures in the absence of high levels of RhoA activity ["None"] ["None"] NM_033103.4 228008333 RHPN2 Chromosome:1 19q13.11 RHPN2 HGNC:19974 true 2020-06-12T23:07:13Z 2020-07-28T02:33:58Z 0 0 0 3381 CDBP03380 Synembryn-B Q9NVN3 RIC8B_HUMAN false false Enzyme Homo_sapiens RIC8B 520 58824.1 5.45 Involved in binding Guanine nucleotide exchange factor (GEF), which can activate some, but not all, G-alpha proteins by exchanging bound GDP for free GTP. Able to potentiate G(olf)-alpha- dependent cAMP accumulation suggesting that it may be an important component for odorant signal transduction ["None"] ["None"] BC132689 124375842 RIC8B Chromosome:1 12q23.3 RIC8B HGNC:25555 true 2020-06-12T23:07:13Z 2020-07-28T02:33:58Z 0 0 0 3382 CDBP03381 Relaxin-3 receptor 1 Q9NSD7 RL3R1_HUMAN false false Receptor Homo_sapiens RXFP3 469 51123.2 8.93 Involved in G-protein coupled receptor protein signaling pathway Receptor for RNL3/relaxin-3. Binding of the ligand inhibit cAMP accumulation ["None"] ["82-102", "120-140", "157-177", "216-236", "271-291", "330-350", "357-377"] AY236541 29824922 RXFP3 Chromosome:5 5p15.1-p14 RXFP3 HGNC:24883 true 2020-06-12T23:07:13Z 2020-07-28T02:28:44Z 1 0 0 3383 CDBP03382 Relaxin-3 receptor 2 Q8TDU9 RL3R2_HUMAN false false Receptor Homo_sapiens RXFP4 374 41141.0 10.65 Involved in G-protein coupled receptor protein signaling pathway High affinity receptor for INSL5. Also acts as receptor for RLN3/relaxin-3, as well as bradykinin and kallidin. Binding of the ligand inhibit cAMP accumulation ["None"] ["44-64", "79-99", "117-137", "155-175", "210-230", "250-270", "282-302"] AB083593 20152250 RXFP4 Chromosome:1 1q22 RXFP4 HGNC:14666 true 2020-06-12T23:07:13Z 2020-07-28T02:28:44Z 1 0 0 3384 CDBP03383 Ras-related protein Rap-1b-like protein A6NIZ1 RP1BL_HUMAN false false Enzyme Homo_sapiens 184 20924.7 5.1 Involved in GTP binding ["None"] ["None"] 1C1Y XM_003120465 310128054 true 2020-06-12T23:07:13Z 2020-07-28T02:33:58Z 0 0 0 3385 CDBP03384 Rap guanine nucleotide exchange factor 6 Q8TEU7 RPGF6_HUMAN false false Enzyme Homo_sapiens RAPGEF6 1601 179405.2 6.4 Involved in protein binding Guanine nucleotide exchange factor (GEF) for Rap1A, Rap2A and M-Ras GTPases. Does not interact with cAMP ["None"] ["None"] NM_016340.5 256600194 RAPGEF6 Chromosome:5 5q31.1 RAPGEF6 HGNC:20655 true 2020-06-12T23:07:13Z 2020-07-28T02:33:58Z 0 0 0 3386 CDBP03385 40S ribosomal protein S27 P42677 RS27_HUMAN false false Enzyme Homo_sapiens RPS27 84 9461.1 9.99 Involved in structural constituent of ribosome ["None"] ["None"] NM_001030.4 4506711 RPS27 Chromosome:1 1q21 RPS27 HGNC:10416 true 2020-06-12T23:07:13Z 2020-07-28T02:33:58Z 0 0 0 3387 CDBP03386 Relaxin receptor 2 Q8WXD0 RXFP2_HUMAN false false Receptor Homo_sapiens RXFP2 754 86452.3 8.92 Involved in G-protein coupled receptor protein signaling pathway Receptor for relaxin. The activity of this receptor is mediated by G proteins leading to stimulation of adenylate cyclase and an increase of cAMP. May also be a receptor for Leydig insulin-like peptide (INSL3) ["None"] ["417-437", "456-476", "496-518", "538-558", "593-613", "640-660", "671-691"] AF403384 18702460 RXFP2 Chromosome:1 13q13.1 RXFP2 HGNC:17318 true 2020-06-12T23:07:13Z 2020-07-28T02:28:44Z 1 0 0 3388 CDBP03387 Solute carrier organic anion transporter family member 4C1 Q6ZQN7 SO4C1_HUMAN false true Transporter Homo_sapiens SLCO4C1 724 78947.5 7.57 Involved in transporter activity Organic anion transporter, capable of transporting pharmacological substances such as digoxin, ouabain, thyroxine, methotrexate and cAMP. May participate in the regulation of membrane transport of ouabain. Involved in the uptake of the dipeptidyl peptidase-4 inhibitor sitagliptin and hence may play a role in its transport into and out of renal proximal tubule cells. May be involved in the first step of the transport pathway of digoxin and various compounds into the urine in the kidney. May be involved in sperm maturation by enabling directed movement of organic anions and compounds within or between cells. This ion- transporting process is important to maintain the strict epididymal homeostasis necessary for sperm maturation. May have a role in secretory functions since seminal vesicle epithelial cells are assumed to secrete proteins involved in decapacitation by modifying surface proteins to facilitate the acquisition of the ability to fertilize the egg ["None"] ["106-126", "145-165", "175-195", "229-249", "273-293", "310-330", "382-402", "423-443", "454-474", "578-598", "624-644", "668-688"] AF401643 SLCO4C1 Chromosome:5 5q21.2 SLCO4C1 HGNC:23612 true 2020-06-12T23:07:13Z 2020-06-12T23:07:13Z 0 0 0 3389 CDBP03388 A-kinase anchor protein SPHKAP Q2M3C7 SPKAP_HUMAN true false Enzyme Homo_sapiens SPHKAP 1700 186454.3 4.78 Involved in protein binding Anchoring protein that mediates the subcellular compartmentation of cAMP-dependent protein kinase (PKA type II). May act as a converging factor linking cAMP and sphingosine signaling pathways. Plays a regulatory role in the modulation of SPHK1 ["None"] ["None"] BC104954 85397610 SPHKAP Chromosome:2 2q36 SPHKAP HGNC:30619 true 2020-06-12T23:07:13Z 2020-07-28T02:28:44Z 0 0 0 3390 CDBP03389 Ras GTPase-activating protein SynGAP Q96PV0 SYGP1_HUMAN true false Enzyme Homo_sapiens SYNGAP1 1343 148282.7 9.31 Involved in GTPase activator activity Major constituent of the PSD essential for postsynaptic signaling. Inhibitory regulator of the Ras-cAMP pathway. Member of the NMDAR signaling complex in excitatory synapses, it may play a role in NMDAR-dependent control of AMPAR potentiation, AMPAR membrane trafficking and synaptic plasticity. Regulates AMPAR- mediated miniature excitatory postsynaptic currents. May be involved in certain forms of brain injury, leading to long-term learning and memory deficits ["None"] ["None"] NM_006772.2 194248068 SYNGAP1 Chromosome:6 6p21.3 SYNGAP1 HGNC:11497 true 2020-06-12T23:07:13Z 2020-07-28T02:28:45Z 0 0 0 3391 CDBP03390 Transmembrane protein 132A Q24JP5 T132A_HUMAN false false Enzyme Homo_sapiens TMEM132A 1023 110108.9 5.36 May play a role in embryonic and postnatal development of the brain. Increased resistance to cell death induced by serum starvation in cultured cells. Regulates cAMP-induced GFAP gene expression via STAT3 phosphorylation ["1-35"] ["853-873"] NM_178031.2 30089937 TMEM132A Chromosome:1 11q12.2 TMEM132A HGNC:31092 true 2020-06-12T23:07:13Z 2020-07-28T02:33:58Z 0 0 0 3392 CDBP03391 Angiotensin-converting enzyme 2 Q9BYF1 ACE2_HUMAN false false Enzyme Homo_sapiens ACE2 805 92462.4 5.545 Involved in metallopeptidase activity Carboxypeptidase which converts angiotensin I to angiotensin 1-9, a peptide of unknown function, and angiotensin II to angiotensin 1-7, a vasodilator. Also able to hydrolyze apelin-13 and dynorphin-13 with high efficiency. May be an important regulator of heart function. In case of human coronaviruses SARS and HCoV-NL63 infections, serve as functional receptor for the spike glycoprotein of both coronaviruses. 1R42;1R4L;1XJP;2AJF;3D0G;3D0H;3D0I;3KBH;3SCI;3SCJ AF291820 ACE2 X Xp22 ACE2 HGNC:13557 true hsa:59272 NP_068576.1:NM_021804.2 Expressed in endothelial cells from small and large arteries, and in arterial smooth muscle cells. Expressed in lung alveolar epithelial cells, enterocytes of the small intestine, Leydig cells and Sertoli cells (at protein level). Expressed in heart, kidney, testis, and gastrointestinal system. zinc ion;chloride ion Interacts with ITGB1. Interacts with SARS-CoV and HCoV-NL63 spike glycoprotein 2020-06-12T23:07:14Z 2020-07-28T02:33:58Z 1 1 0 3393 CDBP03392 Atrial natriuretic peptide receptor 3 P17342 ANPRC_HUMAN false false Receptor Homo_sapiens NPR3 541 59807.3 6.31 Involved in peptide receptor activity, G-protein coupled Receptor for the natriuretic peptide hormones, binding with similar affinities atrial natriuretic peptide NPPA/ANP, brain natriuretic peptide NPPB/BNP, and C-type natriuretic peptide NPPC/CNP. May function as a clearance receptor for NPPA, NPPB and NPPC, regulating their local concentrations and effects. May regulate diuresis, blood pressure and skeletal development. Does not have guanylate cyclase activity ["1-26"] ["482-504"] 1JDP X52282 28706 NPR3 Chromosome:5 5p14-p13 NPR3 HGNC:7945 true 2020-06-12T23:07:14Z 2020-07-28T02:28:45Z 1 0 0 3394 CDBP03393 Barttin Q8WZ55 BSND_HUMAN false false Enzyme Homo_sapiens BSND 320 35196.9 3.99 Functions as a beta-subunit for CLCNKA and CLCNKB chloride channels. In the kidney CLCNK/BSND heteromers mediate chloride reabsorption by facilitating its basolateral efflux. In the stria, CLCNK/BSND channels drive potassium secretion by recycling chloride for the basolateral SLC12A2 cotransporter ["None"] ["6-26", "33-53"] AY034632 16923149 BSND Chromosome:1 1p32.1 BSND HGNC:16512 true 2020-06-12T23:07:14Z 2020-07-28T02:33:58Z 0 0 0 3395 CDBP03394 Dipeptidyl peptidase 1 P53634 CATC_HUMAN true false Enzyme Homo_sapiens CTSC 463 51841.4 6.99 Involved in cysteine-type endopeptidase activity Thiol protease. Has dipeptidylpeptidase activity. Active against a broad range of dipeptide substrates composed of both polar and hydrophobic amino acids. Proline cannot occupy the P1 position and arginine cannot occupy the P2 position of the substrate. Can act as both an exopeptidase and endopeptidase. Activates serine proteases such as elastase, cathepsin G and granzymes A and B. Can also activate neuraminidase and factor XIII ["1-24"] ["None"] 1K3B NM_001814.4 189083844 CTSC Chromosome:1 11q14.2 CTSC HGNC:2528 true 2020-06-12T23:07:14Z 2020-07-28T02:28:45Z 0 0 0 3396 CDBP03395 Chloride channel CLIC-like protein 1 Q96S66 CLCC1_HUMAN false false Enzyme Homo_sapiens CLCC1 551 62022.0 5.23 Seems to act as a chloride ion channel ["1-18"] ["185-205", "217-237", "330-350"] AB018304 27529736 CLCC1 Chromosome:1 1p13.3 CLCC1 HGNC:29675 true 2020-06-12T23:07:14Z 2020-07-28T02:33:58Z 0 0 0 3397 CDBP03396 Chloride channel protein ClC-Ka P51800 CLCKA_HUMAN false true Transporter Homo_sapiens CLCNKA 687 75284.1 7.76 Involved in ion channel activity Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. May be important in urinary concentrating mechanisms ["None"] ["52-72", "161-181", "202-222", "236-256", "282-302", "329-349", "396-416", "417-437", "452-472", "486-506"] Z30643 521072 CLCNKA Chromosome:1 1p36 CLCNKA HGNC:2026 true 2020-06-12T23:07:14Z 2020-07-28T02:32:12Z 0 0 0 3398 CDBP03397 Chloride channel protein ClC-Kb P51801 CLCKB_HUMAN false true Transporter Homo_sapiens CLCNKB 687 75445.3 8.07 Involved in ion channel activity Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. May be important in urinary concentrating mechanisms ["None"] ["51-71", "94-114", "161-181", "202-222", "236-256", "282-302", "325-345", "396-416", "417-437", "452-472", "486-506"] Z30644 521074 CLCNKB Chromosome:1 1p36 CLCNKB HGNC:2027 true 2020-06-12T23:07:14Z 2020-07-28T02:32:12Z 0 0 0 3399 CDBP03398 Chloride channel protein 2 P51788 CLCN2_HUMAN false true Transporter Homo_sapiens CLCN2 898 98534.4 8.47 Involved in voltage-gated chloride channel activity Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport ["None"] ["88-121", "130-155", "180-198", "205-223", "275-295", "321-349", "358-377", "429-449", "457-480", "531-548"] AF026004 2570864 CLCN2 Chromosome:3 3q27-q28 CLCN2 HGNC:2020 true 2020-06-12T23:07:14Z 2020-07-28T02:32:12Z 0 0 0 3400 CDBP03399 H(+)/Cl(-) exchange transporter 3 P51790 CLCN3_HUMAN false true Transporter Homo_sapiens CLCN3 818 88463.45 6.448 Involved in ion channel activity Mediates the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the endosome and synaptic vesicle lumen, and may thereby affect vesicle trafficking and exocytosis. May play an important role in neuronal cell function through regulation of membrane excitability by protein kinase C. It could help neuronal cells to establish short-term memory. NM_001829.2 55770838 CLCN3 4 4q33 CLCN3 HGNC:2021 true hsa:1182 NP_001230301.1:NM_001243372.1;NP_001230303.1:NM_001243374.1;NP_001820.2:NM_001829.3;NP_776297.2:NM_173872.3 Expressed primarily in tissues derived from neuroectoderm. Within the brain, its expression is particularly evident in the hippocampus, olfactory cortex, and olfactory bulb. Highly expressed in aortic and coronary vascular smooth muscle cells, and aortic endothelial cells. Also expressed in tracheal and alveolar epithelial cells, and intima and media of the pulmonary vessels. Expressed in bronchus and colon (at protein level). Homo- or heterodimer. Isoform 2 interacts with GOPC, PDZK1 and SLC9A3R1/EBP50 2020-06-12T23:07:14Z 2020-07-28T02:32:12Z 0 0 0 3401 CDBP03400 H(+)/Cl(-) exchange transporter 4 P51793 CLCN4_HUMAN false true Transporter Homo_sapiens CLCN4 760 84915.965 6.865 Involved in ion channel activity Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons. X77197 479159 CLCN4 X Xp22.3 CLCN4 HGNC:2022 true hsa:1183 NP_001821.2:NM_001830.3 Abundant in skeletal muscle and also detectable in brain and heart. 2020-06-12T23:07:14Z 2020-07-28T02:32:12Z 0 0 0 3402 CDBP03401 H(+)/Cl(-) exchange transporter 5 P51795 CLCN5_HUMAN false true Transporter Homo_sapiens CLCN5 746 83146.045 6.82 Involved in ion channel activity Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons. Important for normal acidification of the endosome lumen. May play an important role in renal tubular function. 2J9L;2JA3 X91906 1171562 CLCN5 X Xp11.23-p11.22 CLCN5 HGNC:2023 true hsa:1184 NP_000075.1:NM_000084.2;NP_001121370.1:NM_001127898.1 Kidney. Moderately expressed in aortic vascular smooth muscle and endothelial cells, and at a slightly higher level in the coronary vascular smooth muscle. Interacts with NEDD4 and NEDD4L 2020-06-12T23:07:14Z 2020-07-28T02:32:12Z 0 0 0 3403 CDBP03402 Chloride transport protein 6 P51797 CLCN6_HUMAN false true Transporter Homo_sapiens CLCN6 869 97215.78 6.909 Involved in ion channel activity Chloride transport protein, initially identified as voltage-gated chloride channel. The presence of the conserved gating glutamate residues suggests that is functions as antiporter. X83378 1263890 CLCN6 1 1p36 CLCN6 HGNC:2024 true hsa:1185 NP_001277.1:NM_001286.3 Testis, ovary, small intestine, brain and skeletal muscle. Low level expression in aortic and coronary vascular smooth muscle cells, and aortic endothelial cells. Isoform C is only detected in kidney. 2020-06-12T23:07:14Z 2020-07-28T02:32:12Z 0 0 0 3404 CDBP03403 H(+)/Cl(-) exchange transporter 7 P51798 CLCN7_HUMAN false true Transporter Homo_sapiens CLCN7 805 88678.26 8.433 Involved in ion channel activity Slowly voltage-gated channel mediating the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the lysosome lumen. AF224741 6980070 CLCN7 16 16p13 CLCN7 HGNC:2025 true hsa:1186 NP_001278.1:NM_001287.5 Brain, testis, muscle and kidney. Chloride channel 7 are heteromers of alpha (CLCN7) and beta (OSTM1) subunits 2020-06-12T23:07:14Z 2020-07-28T02:32:12Z 0 0 0 3405 CDBP03404 Chloride intracellular channel protein 1 O00299 CLIC1_HUMAN false true Transporter Homo_sapiens CLIC1 241 26922.5 4.82 Involved in voltage-gated chloride channel activity Can insert into membranes and form chloride ion channels. Channel activity depends on the pH. Membrane insertion seems to be redox-regulated and may occur only under oxydizing conditions. Involved in regulation of the cell cycle ["None"] ["26-46"] 1RK4 AF034607 4426567 CLIC1 Chromosome:6 6p21.3 CLIC1 HGNC:2062 true 2020-06-12T23:07:14Z 2020-07-28T02:32:12Z 0 0 0 3406 CDBP03405 Chloride intracellular channel protein 2 O15247 CLIC2_HUMAN false true Transporter Homo_sapiens CLIC2 247 28356.1 5.26 Involved in electron carrier activity Can insert into membranes and form chloride ion channels. Channel activity depends on the pH. Membrane insertion seems to be redox-regulated and may occur only under oxydizing conditions. Modulates the activity of RYR2 and inhibits calcium influx ["None"] ["32-52"] NM_001289.4 66346733 CLIC2 CLIC2 HGNC:2063 true 2020-06-12T23:07:14Z 2020-07-28T02:32:12Z 0 0 0 3407 CDBP03406 Chloride intracellular channel protein 3 O95833 CLIC3_HUMAN false true Transporter Homo_sapiens CLIC3 236 26648.1 6.4 Involved in voltage-gated chloride channel activity Can insert into membranes and form chloride ion channels. May participate in cellular growth control ["None"] ["24-44"] BC007012 32425535 CLIC3 Chromosome:9 9q34.3 CLIC3 HGNC:2064 true 2020-06-12T23:07:14Z 2020-07-28T02:32:12Z 0 0 0 3408 CDBP03407 Chloride intracellular channel protein 4 Q9Y696 CLIC4_HUMAN false true Transporter Homo_sapiens CLIC4 253 28771.8 5.26 Involved in voltage-gated chloride channel activity Can insert into membranes and form poorly selective ion channels that may also transport chloride ions. Channel activity depends on the pH. Membrane insertion seems to be redox-regulated and may occur only under oxydizing conditions. Promotes cell- surface expression of HRH3. Has alternate cellular functions like a potential role in angiogenesis or in maintaining apical- basolateral membrane polarity during mitosis and cytokinesis. Could also promote endothelial cell proliferation and regulate endothelial morphogenesis (tubulogenesis) ["None"] ["37-57"] AF097330 5052202 CLIC4 Chromosome:1 1p36.11 CLIC4 HGNC:13518 true 2020-06-12T23:07:14Z 2020-07-28T02:32:12Z 0 0 0 3409 CDBP03408 Chloride intracellular channel protein 5 Q9NZA1 CLIC5_HUMAN false true Transporter Homo_sapiens CLIC5 410 46502.2 4.44 Involved in voltage-gated chloride channel activity Can insert into membranes and form poorly selective ion channels that may also transport chloride ions. May play a role in the regulation of transepithelial ion absorption and secretion. Required for normal formation of stereocilia in the inner ear and normal development of the organ of Corti. Is required for the development and/or maintenance of the proper glomerular endothelial cell and podocyte architecture ["None"] ["193-213"] NM_001114086.1 166197662 CLIC5 Chromosome:6 6p12.3 CLIC5 HGNC:13517 true 2020-06-12T23:07:14Z 2020-07-28T02:32:12Z 0 0 0 3410 CDBP03409 Chloride intracellular channel protein 6 Q96NY7 CLIC6_HUMAN false true Transporter Homo_sapiens CLIC6 704 73010.9 4.01 Involved in voltage-gated chloride channel activity May insert into membranes and form chloride ion channels. May play a critical role in water-secreting cells, possibly through the regulation of chloride ion transport ["None"] ["489-509"] AF448439 25990944 CLIC6 Chromosome:2 21q22.12 CLIC6 HGNC:2065 true 2020-06-12T23:07:14Z 2020-07-28T02:32:12Z 0 0 0 3411 CDBP03410 Beta-defensin 104 Q8WTQ1 D104A_HUMAN false false Enzyme Homo_sapiens DEFB104A 72 8525.9 9.4 Involved in defense response to bacterium Has antimicrobial activity. Synergistic effects with lysozyme and DEFB103 ["1-22"] ["None"] AJ314834 17385081 DEFB104A Chromosome:8 8p23.1 DEFB104A HGNC:18115 true 2020-06-12T23:07:14Z 2020-07-28T02:33:58Z 0 0 0 3412 CDBP03411 FXYD domain-containing ion transport regulator 3 Q14802 FXYD3_HUMAN false true Transporter Homo_sapiens FXYD3 87 9262.8 7.38 Involved in ion channel activity Induces a hyperpolarization-activated chloride current when expressed in Xenopus oocytes. May be a modulator capable of activating endogenous oocyte channels ["1-20"] ["39-59"] NM_001136011.1 209862817 FXYD3 Chromosome:1 19q13.12 FXYD3 HGNC:4027 true 2020-06-12T23:07:14Z 2020-07-28T02:32:12Z 0 0 0 3413 CDBP03412 Gamma-aminobutyric acid receptor subunit alpha-1 P14867 GBRA1_HUMAN false true Receptor Homo_sapiens GABRA1 456 51801.4 9.61 Involved in ion transport GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel ["1-27"] ["252-273", "279-300", "313-334", "422-443"] X14766 31633 GABRA1 Chromosome:5 5q34-q35 GABRA1 HGNC:4075 true 2020-06-12T23:07:14Z 2020-07-28T02:28:46Z 1 0 0 3414 CDBP03413 Gamma-aminobutyric acid receptor subunit alpha-2 P47869 GBRA2_HUMAN false true Receptor Homo_sapiens GABRA2 451 51325.9 9.5 Involved in ion transport GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel ["1-28"] ["252-273", "279-300", "313-334", "420-441"] NM_000807.2 167000751 GABRA2 Chromosome:4 4p12 GABRA2 HGNC:4076 true 2020-06-12T23:07:14Z 2020-07-28T02:28:46Z 1 0 0 3415 CDBP03414 Gamma-aminobutyric acid receptor subunit alpha-3 P34903 GBRA3_HUMAN false true Receptor Homo_sapiens GABRA3 492 55164.1 8.93 Involved in ion transport GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel ["1-28"] ["277-298", "304-325", "338-359", "458-479"] S62908 GABRA3 GABRA3 HGNC:4077 true 2020-06-12T23:07:14Z 2020-07-28T02:28:46Z 1 0 0 3416 CDBP03415 Gamma-aminobutyric acid receptor subunit alpha-4 P48169 GBRA4_HUMAN false true Receptor Homo_sapiens GABRA4 554 61622.6 10.02 Involved in ion transport GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel ["1-35"] ["259-280", "285-306", "318-340", "524-543"] NM_000809.2 34452723 GABRA4 Chromosome:4 4p12 GABRA4 HGNC:4078 true 2020-06-12T23:07:14Z 2020-07-28T02:28:46Z 1 0 0 3417 CDBP03416 Gamma-aminobutyric acid receptor subunit alpha-5 P31644 GBRA5_HUMAN false true Receptor Homo_sapiens GABRA5 462 52145.6 9.56 Involved in ion transport GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel ["1-31"] ["260-281", "286-307", "319-341", "428-449"] L08485 182916 GABRA5 Chromosome:1 15q11.2-q12 GABRA5 HGNC:4079 true 2020-06-12T23:07:14Z 2020-07-28T02:28:46Z 1 0 0 3418 CDBP03417 Gamma-aminobutyric acid receptor subunit alpha-6 Q16445 GBRA6_HUMAN false true Receptor Homo_sapiens GABRA6 453 51023.7 8.4 Involved in ion transport GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel ["1-19"] ["243-264", "269-290", "301-324", "420-441"] AK289461 158259945 GABRA6 Chromosome:5 5q34 GABRA6 HGNC:4080 true 2020-06-12T23:07:14Z 2020-07-28T02:28:47Z 1 0 0 3419 CDBP03418 Gamma-aminobutyric acid receptor subunit beta-1 P18505 GBRB1_HUMAN false true Receptor Homo_sapiens GABRB1 474 54234.1 9.01 Involved in ion transport GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel ["1-25"] ["246-267", "271-293", "305-327", "452-473"] X14767 31635 GABRB1 Chromosome:4 4p12 GABRB1 HGNC:4081 true 2020-06-12T23:07:14Z 2020-07-28T02:28:47Z 1 0 0 3420 CDBP03419 Gamma-aminobutyric acid receptor subunit beta-2 P47870 GBRB2_HUMAN false true Receptor Homo_sapiens GABRB2 512 59149.9 9.7 Involved in ion transport GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel ["1-25"] ["245-266", "270-292", "304-326", "490-511"] NM_021911.2 12548785 GABRB2 Chromosome:5 5q34 GABRB2 HGNC:4082 true 2020-06-12T23:07:14Z 2020-07-28T02:28:47Z 1 0 0 3421 CDBP03420 Gamma-aminobutyric acid receptor subunit beta-3 P28472 GBRB3_HUMAN false true Receptor Homo_sapiens GABRB3 473 54115.0 9.41 Involved in ion transport GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel ["1-25"] ["246-267", "271-293", "305-327", "451-472"] M82919 182925 GABRB3 Chromosome:1 15q11.2-q12 GABRB3 HGNC:4083 true 2020-06-12T23:07:14Z 2020-07-28T02:28:47Z 1 0 0 3422 CDBP03421 Gamma-aminobutyric acid receptor subunit delta O14764 GBRD_HUMAN false true Receptor Homo_sapiens GABRD 452 50707.8 8.73 Involved in ion transport GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel ["1-16"] ["249-271", "275-297", "309-331", "430-452"] AF016917 2388693 GABRD Chromosome:1 1p|1p36.3 GABRD HGNC:4084 true 2020-06-12T23:07:14Z 2020-07-28T02:28:47Z 1 0 0 3423 CDBP03422 Gamma-aminobutyric acid receptor subunit epsilon P78334 GBRE_HUMAN false true Receptor Homo_sapiens GABRE 506 57971.2 8.09 Involved in ion transport GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel ["1-22"] ["254-274", "281-301", "344-364", "486-506"] U66661 1857126 GABRE GABRE HGNC:4085 true 2020-06-12T23:07:14Z 2020-07-28T02:28:47Z 1 0 0 3424 CDBP03423 Gamma-aminobutyric acid receptor subunit gamma-1 Q8N1C3 GBRG1_HUMAN false true Receptor Homo_sapiens GABRG1 465 53594.5 8.23 Involved in ion transport GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel ["1-35"] ["273-294", "299-320", "332-354", "445-465"] AK122845 GABRG1 Chromosome:4 4p12 GABRG1 HGNC:4086 true 2020-06-12T23:07:14Z 2020-07-28T02:28:47Z 1 0 0 3425 CDBP03424 Gamma-aminobutyric acid receptor subunit gamma-3 Q99928 GBRG3_HUMAN false true Receptor Homo_sapiens GABRG3 467 54288.2 7.58 Involved in ion transport GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel ["1-17"] ["255-277", "281-303", "315-337", "444-467"] NM_033223.4 110347416 GABRG3 Chromosome:1 15q12 GABRG3 HGNC:4088 true 2020-06-12T23:07:14Z 2020-07-28T02:28:47Z 1 0 0 3426 CDBP03425 Gamma-aminobutyric acid receptor subunit pi O00591 GBRP_HUMAN false true Receptor Homo_sapiens GABRP 440 50639.7 6.99 Involved in ion transport GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. In the uterus, the function of the receptor appears to be related to tissue contractility. The binding of this pI subunit with other GABA(A) receptor subunits alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone ["1-16"] ["243-266", "270-292", "305-327", "417-438"] U95367 GABRP Chromosome:5 5q33-q34 GABRP HGNC:4089 true 2020-06-12T23:07:14Z 2020-07-28T02:28:47Z 1 0 0 3427 CDBP03426 Gamma-aminobutyric acid receptor subunit rho-1 P24046 GBRR1_HUMAN false true Receptor Homo_sapiens GABRR1 479 55882.9 8.86 Involved in ion transport GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. Rho-1 GABA receptor could play a role in retinal neurotransmission ["1-21"] ["282-305", "309-331", "343-365", "458-479"] NM_002042.3 194097386 GABRR1 Chromosome:6 6q14-q21|6q13-q16.3 GABRR1 HGNC:4090 true 2020-06-12T23:07:14Z 2020-07-28T02:28:47Z 1 0 0 3428 CDBP03427 Gamma-aminobutyric acid receptor subunit rho-2 P28476 GBRR2_HUMAN false true Receptor Homo_sapiens GABRR2 490 56816.6 9.56 Involved in ion transport GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. Rho-2 GABA receptor could play a role in retinal neurotransmission ["1-45"] ["286-306", "319-339", "351-371", "469-489"] AL121833 168984218 GABRR2 Chromosome:6 6q14-q21|6q13-q16.3 GABRR2 HGNC:4091 true 2020-06-12T23:07:14Z 2020-07-28T02:28:47Z 1 0 0 3429 CDBP03428 Gamma-aminobutyric acid receptor subunit rho-3 A8MPY1 GBRR3_HUMAN false true Receptor Homo_sapiens GABRR3 467 54271.1 8.26 Involved in ion transport GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel ["1-23"] ["267-287", "300-320", "332-352", "447-467"] NM_001105580.1 157743288 GABRR3 Chromosome:3 3q11.2 GABRR3 HGNC:17969 true 2020-06-12T23:07:14Z 2020-07-28T02:28:47Z 1 0 0 3430 CDBP03429 Gamma-aminobutyric acid receptor subunit theta Q9UN88 GBRT_HUMAN false true Receptor Homo_sapiens GABRQ 632 72020.9 5.76 Involved in ion transport GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel ["1-21"] ["269-289", "327-347", "612-632"] NM_018558.2 268838843 GABRQ GABRQ HGNC:14454 true 2020-06-12T23:07:14Z 2020-07-28T02:28:47Z 1 0 0 3431 CDBP03430 Glycine receptor subunit alpha-1 P23415 GLRA1_HUMAN false true Receptor Homo_sapiens GLRA1 457 52623.4 9.04 Involved in ion transport The glycine receptor is a neurotransmitter-gated ion channel. Binding of glycine to its receptor increases the chloride conductance and thus produces hyperpolarization (inhibition of neuronal firing) ["1-28"] ["248-274", "281-298", "313-336", "429-446"] NM_001146040.1 225903367 GLRA1 Chromosome:5 5q32 GLRA1 HGNC:4326 true 2020-06-12T23:07:14Z 2020-07-28T02:28:47Z 1 0 0 3432 CDBP03431 Glycine receptor subunit alpha-2 P23416 GLRA2_HUMAN false true Receptor Homo_sapiens GLRA2 452 52001.6 9.2 Involved in ion transport The glycine receptor is a neurotransmitter-gated ion channel. Binding of glycine to its receptor increases the chloride conductance and thus produces hyperpolarization (inhibition of neuronal firing) ["1-27"] ["254-280", "287-304", "319-342", "424-441"] X52008 31849 GLRA2 GLRA2 HGNC:4327 true 2020-06-12T23:07:14Z 2020-07-28T02:28:48Z 1 0 0 3433 CDBP03432 Glycine receptor subunit alpha-3 O75311 GLRA3_HUMAN false true Receptor Homo_sapiens GLRA3 464 53799.8 8.51 Involved in ion transport The glycine receptor is a neurotransmitter-gated ion channel. Binding of glycine to its receptor increases the chloride conductance and thus produces hyperpolarization (inhibition of neuronal firing) ["1-33"] ["253-279", "286-303", "315-341", "434-451"] NM_006529.2 110347441 GLRA3 Chromosome:4 4q33-q34 GLRA3 HGNC:4328 true 2020-06-12T23:07:14Z 2020-07-28T02:28:48Z 1 0 0 3434 CDBP03433 Glycine receptor subunit beta P48167 GLRB_HUMAN false true Receptor Homo_sapiens GLRB 497 56121.6 9.11 Involved in extracellular-glycine-gated chloride channel activity The glycine receptor is a neurotransmitter-gated ion channel. Binding of glycine to its receptor increases the chloride conductance and thus produces hyperpolarization (inhibition of neuronal firing) ["1-22"] ["266-290", "299-316", "331-354", "479-496"] 1T3E U33267 992687 GLRB Chromosome:4 4q31.3 GLRB HGNC:4329 true 2020-06-12T23:07:14Z 2020-07-28T02:28:48Z 1 0 0 3435 CDBP03434 Golgi-associated PDZ and coiled-coil motif-containing protein Q9HD26 GOPC_HUMAN false false Enzyme Homo_sapiens GOPC 462 50519.6 5.79 Involved in protein binding Plays a role in intracellular protein trafficking and degradation. May regulate CFTR chloride currents and acid-induced ACCN3 currents by modulating cell surface expression of both channels. May also regulate the intracellular trafficking of the ADR1B receptor. May play a role in autophagy. Overexpression results in CFTR intracellular retention and degradation in the lysosomes ["None"] ["None"] NM_020399.3 9966877 GOPC Chromosome:6 6q21 GOPC HGNC:17643 true 2020-06-12T23:07:14Z 2020-07-28T02:33:58Z 0 0 0 3436 CDBP03435 Methylosome subunit pICln P54105 ICLN_HUMAN false false Enzyme Homo_sapiens CLNS1A 237 26215.1 3.72 Involved in chloride transport The interaction with Sm proteins inhibits their assembly on U RNA and interferes with snRNP biogenesis. Inhibits the binding of survival motor neuron protein (SMN) to Sm proteins. May participate in cellular volume control by activation of a swelling-induced chloride conductance pathway ["None"] ["None"] AF005422 2209235 CLNS1A Chromosome:1 11q13.5-q14 CLNS1A HGNC:2080 true 2020-06-12T23:07:14Z 2020-07-28T02:33:58Z 0 0 0 3437 CDBP03436 NADPH oxidase 3 Q9HBY0 NOX3_HUMAN true false Enzyme Homo_sapiens NOX3 568 64934.3 8.07 Involved in oxidoreductase activity NADPH oxidase which constitutively produces superoxide upon formation of a complex with CYBA/p22phox. Plays a role in the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity ["None"] ["14-34", "52-72", "104-124", "168-188", "202-222", "396-416"] AF190122 10441613 NOX3 Chromosome:6 6q25.3 NOX3 HGNC:7890 true 2020-06-12T23:07:14Z 2020-07-28T02:28:48Z 0 1 0 3438 CDBP03437 Serine/threonine-protein kinase OSR1 O95747 OXSR1_HUMAN true false Enzyme Homo_sapiens OXSR1 527 58021.7 6.37 Involved in protein kinase activity Regulates downstream kinases in response to environmental stress. May also have a function in regulating the actin cytoskeleton ["None"] ["None"] AB017642 4519629 OXSR1 Chromosome:3 3p22.2 OXSR1 HGNC:8508 true 2020-06-12T23:07:14Z 2020-07-28T02:28:48Z 0 0 0 3439 CDBP03438 Na(+)/H(+) exchange regulatory cofactor NHE-RF3 Q5T2W1 NHRF3_HUMAN false false Enzyme Homo_sapiens PDZK1 519 57129.0 5.24 Involved in protein binding A scaffold protein that connects plasma membrane proteins and regulatory components, regulating their surface expression in epithelial cells apical domains. May be involved in the coordination of a diverse range of regulatory processes for ion transport and second messenger cascades. In complex with SLC9A3R1, may cluster proteins that are functionally dependent in a mutual fashion and modulate the trafficking and the activity of the associated membrane proteins. May play a role in the cellular mechanisms associated with multidrug resistance through its interaction with ABCC2 and PDZK1IP1. May potentiate the CFTR chloride channel activity. May function to connect SCARB1 with the cellular machineries for intracellular cholesterol transport and/or metabolism. May be involved in the regulation of proximal tubular Na(+)-dependent inorganic phosphate cotransport therefore playing an important role in tubule function ["None"] ["None"] AF012281 2944189 PDZK1 Chromosome:1 1q21 PDZK1 HGNC:8821 true 2020-06-12T23:07:14Z 2020-07-28T02:33:58Z 0 0 0 3440 CDBP03439 Solute carrier family 12 member 8 A0AV02 S12A8_HUMAN false false Enzyme Homo_sapiens SLC12A8 714 78222.1 5.5 Involved in transport Cation/chloride cotransporter that may play a role in the control of keratinocyte proliferation ["None"] ["37-60", "72-93", "99-116", "123-142", "154-173", "185-205", "233-254", "266-289", "309-331", "360-377", "383-403", "593-616", "622-643"] NM_001195483.1 306774092 SLC12A8 Chromosome:3 3q21.2 SLC12A8 HGNC:15595 true 2020-06-12T23:07:14Z 2020-07-28T02:33:58Z 0 0 0 3441 CDBP03440 Sodium-dependent neutral amino acid transporter B(0)AT1 Q695T7 S6A19_HUMAN false true Transporter Homo_sapiens SLC6A19 634 71109.125 5.036 Involved in neurotransmitter:sodium symporter activity Transporter that mediates epithelial resorption of neutral amino acids across the apical membrane of epithelial cells in the kidney and intestine. It appears that leucine is the preferred substrate, but all large neutral non-aromatic L-amino acids bind to this transporter. Uptake of leucine is sodium-dependent. In contrast to other members of the neurotransmitter transporter family, does not appear to be chloride-dependent (By similarity). AK290811 158255058 SLC6A19 5 5p15.33 SLC6A19 HGNC:27960 true hsa:340024 NP_001003841.1:NM_001003841.2 Robust expression in kidney and small intestine, with minimal expression in pancreas. Also expressed in stomach, liver, duodenum, ileocecum, colon and prostate. Not detected in testis, whole brain, cerebellum, fetal liver, spleen, skeletal muscle, uterus, heart or lung. 2020-06-12T23:07:14Z 2020-07-28T02:32:12Z 0 0 0 3442 CDBP03441 Sodium-coupled monocarboxylate transporter 1 Q8N695 SC5A8_HUMAN false true Transporter Homo_sapiens SLC5A8 610 66577.0 7.83 Involved in transporter activity Acts as an electrogenic sodium (Na(+)) and chloride (Cl-)-dependent sodium-coupled solute transporter, including transport of monocarboxylates (short-chain fatty acids including L-lactate, D-lactate, pyruvate, acetate, propionate, valerate and butyrate), lactate, mocarboxylate drugs (nicotinate, benzoate, salicylate and 5-aminosalicylate) and ketone bodies (beta-D- hydroxybutyrate, acetoacetate and alpha-ketoisocaproate), with a Na(+):substrate stoichiometry of between 4:1 and 2:1. Catalyzes passive carrier mediated diffusion of iodide. Mediates iodide transport from the thyrocyte into the colloid lumen through the apical membrane. May be responsible for the absorption of D- lactate and monocarboxylate drugs from the intestinal tract. Acts as a tumor suppressor, suppressing colony formation in colon cancer, prostate cancer and glioma cell lines. May play a critical role in the entry of L-lactate and ketone bodies into neurons by a process driven by an electrochemical Na(+) gradient and hence contribute to the maintenance of the energy status and function of neurons ["None"] ["10-30", "52-72", "84-104", "133-153", "162-182", "190-210", "240-260", "280-300", "337-359", "390-410", "416-436", "440-460", "519-539"] NM_145913.3 167466278 SLC5A8 Chromosome:1 12q23.1 SLC5A8 HGNC:19119 true 2020-06-12T23:07:14Z 2020-07-28T02:32:12Z 0 0 0 3443 CDBP03442 Protein tweety homolog 1 Q9H313 TTYH1_HUMAN false false Enzyme Homo_sapiens TTYH1 450 49050.0 4.62 Involved in chloride channel activity Isoform 3 may be a Ca(2+)-independent and swelling- activated chloride channel, possibly involved in regulation of cell volume ["None"] ["44-64", "89-109", "215-235", "241-261", "391-411"] NM_020659.2 10257437 TTYH1 Chromosome:1 19q13.4 TTYH1 HGNC:13476 true 2020-06-12T23:07:14Z 2020-07-28T02:33:58Z 0 0 0 3444 CDBP03443 Protein tweety homolog 2 Q9BSA4 TTYH2_HUMAN false false Enzyme Homo_sapiens TTYH2 534 58771.7 5.68 Involved in chloride channel activity Probable large-conductance Ca(2+)-activated chloride channel. May play a role in Ca(2+) signal transduction. May be involved in cell proliferation and cell aggregation ["None"] ["45-65", "88-108", "214-234", "241-261", "389-409"] NM_032646.5 53988385 TTYH2 Chromosome:1 17q25.1 TTYH2 HGNC:13877 true 2020-06-12T23:07:14Z 2020-07-28T02:33:58Z 0 0 0 3445 CDBP03444 Protein tweety homolog 3 Q9C0H2 TTYH3_HUMAN false false Enzyme Homo_sapiens TTYH3 523 57544.1 5.05 Involved in chloride channel activity Probable large-conductance Ca(2+)-activated chloride channel. May play a role in Ca(2+) signal transduction ["None"] ["43-63", "87-107", "212-232", "237-257", "387-407"] NM_025250.2 51100978 TTYH3 Chromosome:7 7p22 TTYH3 HGNC:22222 true 2020-06-12T23:07:14Z 2020-07-28T02:33:58Z 0 0 0 3446 CDBP03445 Serine/threonine-protein kinase WNK1 Q9H4A3 WNK1_HUMAN true false Enzyme Homo_sapiens WNK1 2382 250791.8 6.3 Involved in protein kinase activity Controls sodium and chloride ion transport by inhibiting the activity of WNK4, potentially by either phosphorylating the kinase or via an interaction between WNK4 and the autoinhibitory domain of WNK1. WNK4 regulates the activity of the thiazide- sensitive Na-Cl cotransporter, SLC12A3, by phosphorylation. WNK1 may also play a role in actin cytoskeletal reorganization ["None"] ["None"] 1T4H NM_018979.3 296939602 WNK1 Chromosome:1 12p13.3 WNK1 HGNC:14540 true 2020-06-12T23:07:14Z 2020-07-28T02:28:48Z 0 0 0 3447 CDBP03446 Methionine aminopeptidase 1D, mitochondrial Q6UB28 AMP1D_HUMAN true false Enzyme Homo_sapiens MAP1D 335 37087.6 6.85 Involved in aminopeptidase activity Removes the amino-terminal methionine from nascent proteins. May play a role in colon tumorigenesis ["None"] ["None"] AY374142 38893021 MAP1D Chromosome:2 2q31.1 true 2020-06-12T23:07:14Z 2020-07-28T02:28:48Z 0 0 0 3448 CDBP03447 Methionine aminopeptidase 1 P53582 AMPM1_HUMAN true false Enzyme Homo_sapiens METAP1 386 43214.9 7.18 Involved in aminopeptidase activity Removes the amino-terminal methionine from nascent proteins. Required for normal progression through the cell cycle ["None"] ["None"] AK304239 194385462 METAP1 Chromosome:4 4q23 METAP1 HGNC:15789 true 2020-06-12T23:07:14Z 2020-07-28T02:28:48Z 0 0 0 3449 CDBP03448 Methionine aminopeptidase 2 P50579 AMPM2_HUMAN true false Enzyme Homo_sapiens METAP2 478 52891.1 5.57 Involved in aminopeptidase activity Removes the amino-terminal methionine from nascent proteins. The catalytic activity of human METAP2 toward Met-Val peptides is consistently two orders of magnitude higher than that of METAP1, suggesting that it is responsible for processing proteins containing N-terminal Met-Val and Met-Thr sequences in vivo ["None"] ["None"] 1B6A U29607 METAP2 Chromosome:1 12q22 METAP2 HGNC:16672 true 2020-06-12T23:07:14Z 2020-07-28T02:28:48Z 0 0 0 3450 CDBP03449 Carboxypeptidase M P14384 CBPM_HUMAN true false Enzyme Homo_sapiens CPM 443 50513.5 7.4 Involved in carboxypeptidase activity Specifically removes C-terminal basic residues (Arg or Lys) from peptides and proteins. It is believed to play important roles in the control of peptide hormone and growth factor activity at the cell surface, and in the membrane-localized degradation of extracellular proteins ["1-17"] ["None"] 1UWY AF262947 12043756 CPM Chromosome:1 12q14.3 CPM HGNC:2311 true 2020-06-12T23:07:14Z 2020-07-28T02:28:48Z 0 1 0 3451 CDBP03450 U8 snoRNA-decapping enzyme Q96DE0 NUD16_HUMAN false false Enzyme Homo_sapiens NUDT16 195 21273.13 6.89 Involved in hydrolase activity RNA-decapping enzyme that binds specifically to U8 snoRNA. Part of the U8 snoRNP complex that is required for the accumulation of mature 5.8S and 28S rRNA. Has diphosphatase activity and removes m7G and m227G caps from U8 snoRNA. Has broad substrate specificity with manganese or cobalt as cofactor and can act on various RNA species (in vitro). 2XSQ;3COU;3MGM NM_152395.2 285026434 NUDT16 3 3q22.1 NUDT16 HGNC:26442 true hsa:131870 NP_689608.2:NM_152395.2 Magnesium, manganese or cobalt. or 4 divalent metal cations. Acts specifically on U8 snoRNA with magnesium as cofactor. Has broad substrate specificity with bound manganese or cobalt (in vitro) Homodimer 2020-06-12T23:07:14Z 2020-07-28T02:33:58Z 0 0 0 3452 CDBP03451 Amyloid-like protein 1 P51693 APLP1_HUMAN false false Enzyme Homo_sapiens APLP1 650 72175.8 5.61 Involved in binding The gamma-CTF peptide, C30, is a potent enhancer of neuronal apoptosis ["1-38"] ["581-603"] AD000864 1905916 APLP1 Chromosome:1 19q13.1 APLP1 HGNC:597 true 2020-06-12T23:07:14Z 2020-07-28T02:33:58Z 0 0 0 3453 CDBP03452 Copper chaperone for superoxide dismutase O14618 CCS_HUMAN true false Enzyme Homo_sapiens CCS 274 29040.4 5.31 Involved in metal ion binding Delivers copper to copper zinc superoxide dismutase (SOD1) ["None"] ["None"] 1DO5 AF002210 2431868 CCS Chromosome:1 11q13 CCS HGNC:1613 true 2020-06-12T23:07:14Z 2020-07-28T02:28:49Z 0 1 0 3454 CDBP03453 COMM domain-containing protein 1 Q8N668 COMD1_HUMAN false false Enzyme Homo_sapiens COMMD1 190 21177.9 6.13 Involved in identical protein binding Inhibits TNF-induced NFKB1 activation. May function to facilitate biliary copper excretion within hepatocytes ["None"] ["None"] AB178811 47169773 COMMD1 Chromosome:2 2p15 COMMD1 HGNC:23024 true 2020-06-12T23:07:14Z 2020-07-28T02:33:58Z 0 0 0 3455 CDBP03454 High affinity copper uptake protein 1 O15431 COPT1_HUMAN false true Transporter Homo_sapiens SLC31A1 190 21090.5 7.47 Involved in copper ion transmembrane transporter activity Involved in high-affinity copper uptake ["None"] ["62-82", "133-153", "157-177"] U83460 SLC31A1 Chromosome:9 9q31-q32 SLC31A1 HGNC:11016 true 2020-06-12T23:07:14Z 2020-06-12T23:07:14Z 0 0 0 3456 CDBP03455 Probable low affinity copper uptake protein 2 O15432 COPT2_HUMAN false true Transporter Homo_sapiens SLC31A2 143 15681.3 6.79 Involved in copper ion transmembrane transporter activity Involved in low-affinity copper uptake (Potential) ["None"] ["23-43", "94-114", "120-140"] U83461 SLC31A2 Chromosome:9 9q31-q32 SLC31A2 HGNC:11017 true 2020-06-12T23:07:14Z 2020-06-12T23:07:14Z 0 0 0 3457 CDBP03456 Cytochrome c oxidase assembly protein COX11, mitochondrial Q9Y6N1 COX11_HUMAN true false Enzyme Homo_sapiens COX11 276 31429.7 9.32 Involved in copper ion binding Exerts its effect at some terminal stage of cytochrome c oxidase synthesis, probably by being involved in the insertion of the copper B into subunit I ["None"] ["96-114"] AF044321 3170264 COX11 Chromosome:1 17q22 COX11 HGNC:2261 true 2020-06-12T23:07:14Z 2020-07-28T02:28:49Z 0 1 0 3458 CDBP03457 Cytochrome c oxidase copper chaperone Q14061 COX17_HUMAN true false Enzyme Homo_sapiens COX17 63 6915.0 7.3 Involved in copper ion binding Copper chaperone for cytochrome c oxidase (COX). Binds two copper ions and deliver them to the Cu(A) site of COX ["None"] ["None"] AF269244 9049966 COX17 Chromosome:3 3q13.33 COX17 HGNC:2264 true 2020-06-12T23:07:14Z 2020-07-28T02:28:49Z 0 1 0 3459 CDBP03458 COX assembly mitochondrial protein homolog Q7Z7K0 COXAM_HUMAN false false Enzyme Homo_sapiens CMC1 106 12489.5 8.81 Involved in metal ion binding Required for mitochondrial cytochrome c oxidase (COX) assembly and respiration. Binds copper. May be involved in copper trafficking and distribution to COX and SOD1 ["None"] ["None"] BC052644 30851666 CMC1 Chromosome:3 3p24.1 CMC1 HGNC:28783 true 2020-06-12T23:07:14Z 2020-07-28T02:33:58Z 0 0 0 3460 CDBP03459 Copper homeostasis protein cutC homolog Q9NTM9 CUTC_HUMAN false false Metal Binding Homo_sapiens CUTC 273 29340.7 8.29 Involved in copper ion binding Involved in copper homeostasis ["None"] ["None"] AF132966 4680703 CUTC Chromosome:1 10q24.2 CUTC HGNC:24271 true 2020-06-12T23:07:14Z 2020-07-28T02:32:03Z 0 1 0 3461 CDBP03460 Ecto-NOX disulfide-thiol exchanger 1 Q8TC92 ENOX1_HUMAN false false Enzyme Homo_sapiens ENOX1 643 73347.8 5.25 Involved in nucleotide binding Probably acts as a terminal oxidase of plasma electron transport from cytosolic NAD(P)H via hydroquinones to acceptors at the cell surface. Hydroquinone oxidase activity alternates with a protein disulfide-thiol interchange/oxidoreductase activity which may control physical membrane displacements associated with vesicle budding or cell enlargement. The activities oscillate with a period length of 24 minutes and play a role in control of the ultradian cellular biological clock ["None"] ["None"] AK000956 7021942 ENOX1 Chromosome:1 13q14.11 ENOX1 HGNC:25474 true 2020-06-12T23:07:14Z 2020-07-28T02:33:58Z 0 0 0 3462 CDBP03461 Hephaestin Q9BQS7 HEPH_HUMAN false false Metal Binding Homo_sapiens HEPH 1158 130447.8 5.89 Involved in copper ion binding May function as a ferroxidase for ferrous (II) to ferric ion (III) conversion and may be involved in copper transport and homeostasis. Implicated in iron homeostasis and may mediate iron efflux associated to ferroportin 1 ["1-23"] ["1111-1131"] AF148860 12830539 HEPH HEPH HGNC:4866 true 2020-06-12T23:07:14Z 2020-07-28T02:32:04Z 0 1 0 3463 CDBP03462 Hephaestin-like protein 1 Q6MZM0 HPHL1_HUMAN false false Metal Binding Homo_sapiens HEPHL1 1159 131601.7 6.73 Involved in copper ion binding May function as a ferroxidase and may be involved in copper transport and homeostasis ["1-24"] ["1115-1135"] NM_001098672.1 148886707 HEPHL1 Chromosome:1 11q21 HEPHL1 HGNC:30477 true 2020-06-12T23:07:14Z 2020-07-28T02:32:04Z 0 1 0 3464 CDBP03463 Lysyl oxidase homolog 1 Q08397 LOXL1_HUMAN true false Enzyme Homo_sapiens LOXL1 574 63109.3 7.55 Involved in copper ion binding Active on elastin and collagen substrates ["1-25"] ["None"] NM_005576.2 67782346 LOXL1 Chromosome:1 15q24-q25|15q22 LOXL1 HGNC:6665 true 2020-06-12T23:07:14Z 2020-07-28T02:28:49Z 0 1 0 3465 CDBP03464 Lysyl oxidase homolog 2 Q9Y4K0 LOXL2_HUMAN true false Enzyme Homo_sapiens LOXL2 774 86724.305 6.38 Involved in copper ion binding Mediates the post-translational oxidative deamination of lysine residues on target proteins leading to the formation of deaminated lysine (allysine). When secreted in extracellular matrix, promotes cross-linking of extracellular matrix proteins by mediating oxidative deamination of peptidyl lysine residues in precursors to fibrous collagen and elastin. Acts as a regulator of sprouting angiogenesis, probably via collagen IV scaffolding. When nuclear, acts as a transcription corepressor and specifically mediates deamination of trimethylated 'Lys-4' of histone H3 (H3K4me3), a specific tag for epigenetic transcriptional activation. Involved in epithelial to mesenchymal transition (EMT) via interaction with SNAI1 and participates in repression of E-cadherin, probably by mediating deamination of histone H3. Also involved in E-cadherin repression following hypoxia, a hallmark of epithelial to mesenchymal transition believed to amplify tumor aggressiveness, suggesting that it may play a role in tumor progression. Acts as a regulator of chondrocyte differentiation, probably by regulating expression of factors that control chondrocyte differentiation. NM_002318.2 4505011 LOXL2 8 8p21.3 LOXL2 HGNC:6666 true hsa:4017 NP_002309.1:NM_002318.2 Expressed in many tissues. Highest expression in reproductive tissues, placenta, uterus and prostate. Up-regulated in a number of cancers cells and tissues. Copper;Contains 1 lysine tyrosylquinone Component of some chromatin repressor complex. Interacts with SNAI1 2020-06-12T23:07:14Z 2020-07-28T02:28:49Z 1 1 1 3466 CDBP03465 Lysyl oxidase homolog 3 P58215 LOXL3_HUMAN true false Enzyme Homo_sapiens LOXL3 753 83165.9 6.85 Involved in copper ion binding ["1-25"] ["None"] AF282619 14009597 LOXL3 Chromosome:2 2p13 LOXL3 HGNC:13869 true 2020-06-12T23:07:14Z 2020-07-28T02:28:49Z 1 1 0 3467 CDBP03466 Lysyl oxidase homolog 4 Q96JB6 LOXL4_HUMAN true false Enzyme Homo_sapiens LOXL4 756 84483.1 7.47 Involved in copper ion binding May modulate the formation of a collagenous extracellular matrix ["1-24"] ["None"] AF338441 14669471 LOXL4 Chromosome:1 10q24 LOXL4 HGNC:17171 true 2020-06-12T23:07:14Z 2020-07-28T02:28:49Z 1 1 0 3468 CDBP03467 Putative DBH-like monooxygenase protein 2 A6NHM9 MOXD2_HUMAN true false Enzyme Homo_sapiens MOXD2 499 56319.0 4.4 Involved in monooxygenase activity ["1-16"] ["None"] MOXD2 Chromosome:7 7q34 MOXD2 HGNC:33605 true 2020-06-12T23:07:14Z 2020-07-28T02:28:50Z 0 1 0 3469 CDBP03468 Metallothionein-3 P25713 MT3_HUMAN false false Metal Binding Homo_sapiens MT3 68 6926.9 4.5 Involved in metal ion binding Binds heavy metals. Contains three zinc and three copper atoms per polypeptide chain and only a negligible amount of cadmium. Inhibits survival and neurite formation of cortical neurons in vitro ["None"] ["None"] BC013081 15341818 MT3 Chromosome:1 16q13 MT3 HGNC:7408 true 2020-06-12T23:07:14Z 2020-07-28T02:32:04Z 0 1 0 3470 CDBP03469 Metallothionein-4 P47944 MT4_HUMAN false false Metal Binding Homo_sapiens MT4 62 6508.7 7.9 Involved in metal ion binding Seems to bind zinc and copper. Could play a special role in regulating zinc metabolism during the differentiation of stratified epithelia ["None"] ["None"] NM_032935.2 14269578 MT4 Chromosome:1 16q13 MT4 HGNC:18705 true 2020-06-12T23:07:14Z 2020-07-28T02:32:04Z 0 1 0 3471 CDBP03470 Protein SCO1 homolog, mitochondrial O75880 SCO1_HUMAN false false Metal Binding Homo_sapiens SCO1 301 33813.7 9.22 Involved in copper ion binding Thought to play a role in cellular copper homeostasis, mitochondrial redox signaling or insertion of copper into the active site of COX ["None"] ["None"] 1WP0 AF026852 3599966 SCO1 Chromosome:1 17p13.1 SCO1 HGNC:10603 true 2020-06-12T23:07:14Z 2020-07-28T02:32:04Z 0 1 0 3472 CDBP03471 Protein SCO2 homolog, mitochondrial O43819 SCO2_HUMAN false false Metal Binding Homo_sapiens SCO2 266 29809.7 9.07 Involved in copper ion binding Acts as a copper chaperone, transporting copper to the Cu(A) site on the cytochrome c oxidase subunit II (COX2) ["None"] ["None"] AF177385 6175867 SCO2 Chromosome:2 22q13.33 SCO2 HGNC:10604 true 2020-06-12T23:07:14Z 2020-07-28T02:32:04Z 0 1 0 3473 CDBP03472 Metalloreductase STEAP3 Q658P3 STEA3_HUMAN true false Enzyme Homo_sapiens STEAP3 488 54600.1 8.74 Involved in iron ion binding Endosomal ferrireductase required for efficient transferrin-dependent iron uptake in erythroid cells. Participates in erythroid iron homeostasis by reducing Fe(3+) to Fe(2+). Can also reduce of Cu(2+) to Cu(1+), suggesting that it participates in copper homeostasis. Uses NAD(+) as acceptor. May play a role downstream of p53/TP53 to interface apoptosis and cell cycle progression. Indirectly involved in exosome secretion by facilitating the secretion of proteins such as TCTP ["None"] ["208-228", "259-279", "305-325", "359-379", "391-411", "434-454"] NM_001008410.1 56549147 STEAP3 Chromosome:2 2q14.2 STEAP3 HGNC:24592 true 2020-06-12T23:07:14Z 2020-07-28T02:28:50Z 0 1 0 3474 CDBP03473 Very long-chain specific acyl-CoA dehydrogenase, mitochondrial P49748 ACADV_HUMAN true false Enzyme Homo_sapiens ACADVL 655 70389.58 8.755 Involved in acyl-CoA dehydrogenase activity Active toward esters of long-chain and very long chain fatty acids such as palmitoyl-CoA, mysritoyl-CoA and stearoyl-CoA. Can accommodate substrate acyl chain lengths as long as 24 carbons, but shows little activity for substrates of less than 12 carbons. 2UXW;3B96 BC000399 12653261 ACADVL 17 17p13.1 ACADVL HGNC:92 true hsa:37 ENSG00000072778-MONOMER NP_000009.1:NM_000018.3;NP_001029031.1:NM_001033859.2;NP_001257376.1:NM_001270447.1 FAD Homodimer 2020-06-12T23:07:14Z 2020-07-28T02:28:50Z 0 0 0 3475 CDBP03474 Acyl-coenzyme A oxidase-like protein Q9NUZ1 ACOXL_HUMAN true false Enzyme Homo_sapiens ACOXL 547 61795.0 8.68 Involved in oxidoreductase activity, acting on the CH-CH group of donors ["None"] ["None"] CH471237 119570743 ACOXL Chromosome:2 2q13 ACOXL HGNC:25621 true 2020-06-12T23:07:14Z 2020-07-28T02:28:50Z 0 0 0 3476 CDBP03475 Apoptosis-inducing factor 2 Q9BRQ8 AIFM2_HUMAN false false Enzyme Homo_sapiens AIFM2 373 40526.4 9.55 Involved in oxidoreductase activity Oxidoreductase, which may play a role in mediating a TP53/p53-dependent apoptosis response. Probable oxidoreductase that acts as a caspase-independent mitochondrial effector of apoptotic cell death. Binds to DNA in a sequence-independent manner. May contribute to genotoxin-induced growth arrest ["None"] ["7-27"] AF337957 18478646 AIFM2 Chromosome:1 10q22.1 AIFM2 HGNC:21411 true 2020-06-12T23:07:14Z 2020-07-28T02:33:59Z 0 0 0 3477 CDBP03476 Apoptosis-inducing factor 3 Q96NN9 AIFM3_HUMAN false false Enzyme Homo_sapiens AIFM3 605 66790.7 9.49 Involved in oxidoreductase activity Induces apoptosis through a caspase dependent pathway. Reduces mitochondrial membrane potential ["None"] ["None"] NM_144704.2 21389617 AIFM3 Chromosome:2 22q11.21 AIFM3 HGNC:26398 true 2020-06-12T23:07:14Z 2020-07-28T02:33:59Z 0 0 0 3478 CDBP03477 FAD-linked sulfhydryl oxidase ALR P55789 ALR_HUMAN true false Enzyme Homo_sapiens GFER 205 23448.95 7.621 Involved in thiol oxidase activity Isoform 1: FAD-dependent sulfhydryl oxidase. Within the mitochondrial intermembrane space, participates in a chain of disulfide exchange reactions with MIA40, that generate disulfide bonds in a number of resident proteins with twin Cx3C and Cx9C motifs. Isoform 2: May act as an autocrine hepatotrophic growth factor promoting liver regeneration. 3MBG;3O55;3TK0;3U2L;3U2M;3U5S NM_005262.2 54112432 GFER 16 16p13.3-p13.12 GFER HGNC:4236 true hsa:2671 NP_005253.3:NM_005262.2 Ubiquitously expressed. Highest expression in the testis and liver and low expression in the muscle. FAD Homodimer; disulfide-linked. May form heterodimers of isoform 1 and isoform 2 2020-06-12T23:07:14Z 2020-07-28T02:28:50Z 0 0 0 3479 CDBP03478 Lysine-specific histone demethylase 1B Q8NB78 KDM1B_HUMAN true false Enzyme Homo_sapiens KDM1B 823 92225.7 7.93 Involved in zinc ion binding Histone demethylase that demethylates 'Lys-4' of histone H3, a specific tag for epigenetic transcriptional activation, thereby acting as a corepressor. Required for de novo DNA methylation of a subset of imprinted genes during oogenesis. Acts by oxidizing the substrate by FAD to generate the corresponding imine that is subsequently hydrolyzed. Demethylates both mono- and di-methylated 'Lys-4' of histone H3. Has no effect on tri- methylated 'Lys-4', mono-, di- or tri-methylated 'Lys-9', mono-, di- or tri-methylated 'Lys-27', mono-, di- or tri-methylated 'Lys- 36' of histone H3, or on mono-, di- or tri-methylated 'Lys-20' of histone H4 ["None"] ["None"] XM_002816464 297677229 KDM1B Chromosome:6 6p22.3 KDM1B HGNC:21577 true 2020-06-12T23:07:14Z 2020-07-28T02:28:50Z 0 1 0 3480 CDBP03479 Cryptochrome-2 Q49AN0 CRY2_HUMAN false false Enzyme Homo_sapiens CRY2 593 66945.9 8.45 Involved in DNA photolyase activity Blue light-dependent regulator of the circadian feedback loop. Inhibits CLOCK|NPAS2-ARNTL E box-mediated transcription. Acts, in conjunction with CRY2, in maintaining period length and circadian rhythmicity. Has no photolyase activity. Capable of translocating circadian clock core proteins such as PER proteins to the nucleus. May inhibit CLOCK|NPAS2-ARNTL transcriptional activity through stabilizing the unphosphorylated form of ARNTL ["None"] ["None"] BC041814 27469701 CRY2 Chromosome:1 11p11.2 CRY2 HGNC:2385 true 2020-06-12T23:07:14Z 2020-07-28T02:33:59Z 0 0 0 3481 CDBP03480 tRNA-dihydrouridine synthase 1-like Q6P1R4 DUS1L_HUMAN true false Enzyme Homo_sapiens DUS1L 473 53230.0 8.37 Involved in catalytic activity Catalyzes the synthesis of dihydrouridine, a modified base found in the D-loop of most tRNAs ["None"] ["None"] NM_022156.3 40807366 DUS1L Chromosome:1 17q25.3 DUS1L HGNC:30086 true 2020-06-12T23:07:14Z 2020-07-28T02:28:50Z 0 0 0 3482 CDBP03481 tRNA-dihydrouridine synthase 3-like Q96G46 DUS3L_HUMAN true false Enzyme Homo_sapiens DUS3L 650 72593.3 8.11 Involved in catalytic activity Catalyzes the synthesis of dihydrouridine, a modified base found in the D-loop of most tRNAs ["None"] ["None"] AK023958 10436076 DUS3L Chromosome:1 19p13.3 DUS3L HGNC:26920 true 2020-06-12T23:07:14Z 2020-07-28T02:28:50Z 0 1 0 3483 CDBP03482 tRNA-dihydrouridine synthase 4-like O95620 DUS4L_HUMAN true false Enzyme Homo_sapiens DUS4L 317 35816.2 7.37 Involved in catalytic activity Catalyzes the synthesis of dihydrouridine, a modified base found in the D-loop of most tRNAs ["None"] ["None"] NM_181581.1 31742496 DUS4L Chromosome:7 7q22-q31 DUS4L HGNC:21517 true 2020-06-12T23:07:14Z 2020-07-28T02:28:50Z 0 0 0 3484 CDBP03483 ERO1-like protein alpha Q96HE7 ERO1A_HUMAN false false Enzyme Homo_sapiens ERO1L 468 54392.1 5.41 Involved in protein binding Essential oxidoreductase that oxidizes proteins in the endoplasmic reticulum to produce disulfide bonds. Acts by oxidizing directly P4HB/PDI isomerase through a direct disulfide exchange. Does not act as a direct oxidant of folding substrate, but relies on P4HB/PDI to transfer oxidizing equivalent. Associates with ERP44 but not with GRP54, demonstrating that it does not oxidize all PDI related proteins and can discriminate between PDI and related proteins. Its reoxidation probably involves electron transfer to molecular oxygen via FAD. Acts independently of glutathione. May be responsible for a significant proportion of reactive oxygen species (ROS) in the cell, thereby being a source of oxidative stress. Required for the folding of immunoglobulin proteins. Responsible for the release of the unfolded cholera toxin from reduced P4HB/PDI in case of infection by V.cholerae, thereby playing a role in retrotranslocation of the toxin ["1-23"] ["None"] AF081886 7021226 ERO1L Chromosome:1 14q22.1 ERO1L HGNC:13280 true 2020-06-12T23:07:14Z 2020-07-28T02:33:59Z 0 0 0 3485 CDBP03484 ERO1-like protein beta Q86YB8 ERO1B_HUMAN false false Enzyme Homo_sapiens ERO1LB 467 53542.6 8.07 Involved in protein binding Essential oxidoreductase that oxidizes proteins in the endoplasmic reticulum to produce disulfide bonds. Acts by oxidizing directly P4HB/PDI isomerase through a direct disulfide exchange. Does not act as a direct oxidant of folding substrate, but relies on P4HB/PDI to transfer oxidizing equivalent. Associates with ERP44 but not with GRP54, demonstrating that it does not oxidize all PDI related proteins and can discriminate between PDI and related proteins. Its reoxidation probably involves electron transfer to molecular oxygen via FAD. Acts independently of glutathione. May be responsible for a significant proportion of reactive oxygen species (ROS) in the being a source of oxidative stress. Required for the folding of cell, thereby being a source of oxidative stress ["1-33"] ["None"] AF252538 9716557 ERO1LB Chromosome:1 1q42.2-q43 ERO1LB HGNC:14355 true 2020-06-12T23:07:14Z 2020-07-28T02:33:59Z 0 0 0 3486 CDBP03485 FAD-dependent oxidoreductase domain-containing protein 1 Q96CU9 FXRD1_HUMAN true false Enzyme Homo_sapiens FOXRED1 486 53811.2 7.88 Involved in oxidoreductase activity ["None"] ["62-82"] AF103801 6048970 FOXRED1 Chromosome:1 11q24.2 FOXRED1 HGNC:26927 true 2020-06-12T23:07:14Z 2020-07-28T02:28:51Z 0 0 0 3487 CDBP03486 FAD-dependent oxidoreductase domain-containing protein 2 Q8IWF2 FXRD2_HUMAN true false Enzyme Homo_sapiens FOXRED2 684 77790.4 7.78 Inorganic ion transport and metabolism Probable flavoprotein which may function in endoplasmic reticulum associated degradation (ERAD). May bind non-native proteins in the endoplasmic reticulum and target them to the ubiquitination machinery for subsequent degradation ["1-26"] ["None"] AK025714 10438323 FOXRED2 Chromosome:2 22q12.3 FOXRED2 HGNC:26264 true 2020-06-12T23:07:14Z 2020-07-28T02:28:51Z 0 0 0 3488 CDBP03487 Lysine-specific histone demethylase 1A O60341 KDM1A_HUMAN true false Enzyme Homo_sapiens KDM1A 852 92901.9 6.47 Involved in oxidoreductase activity Histone demethylase that demethylates both 'Lys-4' (H3K4me) and 'Lys-9' (H3K9me) of histone H3, thereby acting as a coactivator or a corepressor, depending on the context. Acts by oxidizing the substrate by FAD to generate the corresponding imine that is subsequently hydrolyzed. Acts as a corepressor by mediating demethylation of H3K4me, a specific tag for epigenetic transcriptional activation. Demethylates both mono- (H3K4me1) and di-methylated (H3K4me2) H3K4me. May play a role in the repression of neuronal genes. Alone, it is unable to demethylate H3K4me on nucleosomes and requires the presence of RCOR1/CoREST to achieve such activity. Also acts as a coactivator of androgen receptor (ANDR)-dependent transcription, by being recruited to ANDR target genes and mediating demethylation of H3K9me, a specific tag for epigenetic transcriptional repression. The presence of PRKCB in ANDR-containing complexes, which mediates phosphorylation of 'Thr- 6' of histone H3 (H3T6ph), a specific tag that prevents demethylation H3K4me, prevents H3K4me demethylase activity of KDM1A. Demethylates di-methylated 'Lys-370' of p53/TP53 which prevents interaction of p53/TP53 with TP53BP1 and represses p53/TP53-mediated transcriptional activation. Demethylates and stabilizes the DNA methylase DNMT1. Required for gastrulation during embryogenesis ["None"] ["None"] NM_015013.3 58761546 KDM1A Chromosome:1 1p36.12 KDM1A HGNC:29079 true 2020-06-12T23:07:14Z 2020-07-28T02:28:51Z 0 0 1 3489 CDBP03488 Protein-methionine sulfoxide oxidase MICAL1 Q8TDZ2 MICA1_HUMAN true false Enzyme Homo_sapiens MICAL1 1067 108551.41 6.481 Involved in monooxygenase activity Monooxygenase that promotes depolymerization of F-actin by mediating oxidation of specific methionine residues on actin. Acts by modifying actin subunits through the addition of oxygen to form methionine-sulfoxide, leading to promote actin filament severing and prevent repolymerization (Probable). Acts as a cytoskeletal regulator that connects NEDD9 to intermediate filaments. Also acts as a negative regulator of apoptosis via its interaction with STK38 and STK38L; acts by antagonizing STK38 and STK38L activation by MST1/STK4. 1WYL;2CO8;2DK9 AB048948 19570335 MICAL1 6 6q21 MICAL1 HGNC:20619 true hsa:64780 NP_001152763.1:NM_001159291.1;NP_073602.3:NM_022765.3 Expressed in the thymus, lung, spleen, kidney, testis and hematopoietic cells. FAD Interacts with STK38 and STK38L . Associates with the SH3 domain of NEDD9. Interacts with VIM and PLXNA3. Interacts with RAB1B 2020-06-12T23:07:14Z 2020-07-28T02:28:51Z 0 1 0 3490 CDBP03489 Protein-methionine sulfoxide oxidase MICAL2 O94851 MICA2_HUMAN true false Enzyme Homo_sapiens MICAL2 1124 126687.955 8.641 Involved in monooxygenase activity Monooxygenase that promotes depolymerization of F-actin by mediating oxidation of specific methionine residues on actin. Acts by modifying actin subunits through the addition of oxygen to form methionine-sulfoxide, leading to promote actin filament severing and prevent repolymerization (By similarity). 2E9K NM_014632.2 7662284 MICAL2 11 11p15.3 MICAL2 HGNC:24693 true hsa:9645 NP_055447.1:NM_014632.2 FAD Interacts with VIM and PLXNA4 . Interacts with RAB1B 2020-06-12T23:07:14Z 2020-07-28T02:28:51Z 0 1 0 3491 CDBP03490 Protein-methionine sulfoxide oxidase MICAL3 Q7RTP6 MICA3_HUMAN true false Enzyme Homo_sapiens MICAL3 2002 109046.185 7.85 Involved in monooxygenase activity Monooxygenase that promotes depolymerization of F-actin by mediating oxidation of specific methionine residues on actin. Acts by modifying actin subunits through the addition of oxygen to form methionine-sulfoxide, leading to promote actin filament severing and prevent repolymerization (By similarity). Involved in exocytic vesicles tethering and fusion: the monooxygenase activity is required for this process. 2D88 NM_015241.2 209862789 MICAL3 22 22q11.21 MICAL3 HGNC:24694 true hsa:57553 NP_001116203.1:NM_001122731.1;NP_001129476.1:NM_001136004.1;NP_056056.2:NM_015241.2 Ubiquitous. FAD Interacts with RAB1B. Interacts with ERC1 and RAB8A 2020-06-12T23:07:15Z 2020-07-28T02:28:51Z 0 1 0 3492 CDBP03491 Protein MTO1 homolog, mitochondrial Q9Y2Z2 MTO1_HUMAN false false Enzyme Homo_sapiens MTO1 717 79963.2 8.41 Involved in FAD or FADH2 binding Involved in the 5-carboxymethylaminomethyl modification (mnm(5)s(2)U34) of the wobble uridine base in mitochondrial tRNAs ["None"] ["None"] NM_133645.2 19882217 MTO1 Chromosome:6 6q13 MTO1 HGNC:19261 true 2020-06-12T23:07:15Z 2020-07-28T02:33:59Z 0 0 0 3493 CDBP03492 NADPH-dependent diflavin oxidoreductase 1 Q9UHB4 NDOR1_HUMAN true false Enzyme Homo_sapiens NDOR1 597 66761.9 6.3 Involved in oxidoreductase activity Oxidoreductase that catalyzes the NADP-dependent reduction of cytochrome c and one-electron acceptors, such as doxorubicin, potassium ferricyanide and menadione (in vitro) ["None"] ["None"] AF199509 6694369 NDOR1 Chromosome:9 9q34.3 NDOR1 HGNC:29838 true 2020-06-12T23:07:15Z 2020-07-28T02:28:51Z 0 1 0 3494 CDBP03493 NADPH oxidase 1 Q9Y5S8 NOX1_HUMAN true false Enzyme Homo_sapiens NOX1 564 64870.5 8.59 Involved in oxidoreductase activity NOH-1S is a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes and other tissues. It participates in the regulation of cellular pH and is blocked by zinc. NOH-1L is a pyridine nucleotide-dependent oxidoreductase that generates superoxide and might conduct H(+) ions as part of its electron transport mechanism, whereas NOH-1S does not contain an electron transport chain ["None"] ["10-30", "45-72", "103-123", "169-189", "207-227", "397-417"] AF127763 5031252 NOX1 NOX1 HGNC:7889 true 2020-06-12T23:07:15Z 2020-07-28T02:28:51Z 0 1 0 3495 CDBP03494 NADPH oxidase 4 Q9NPH5 NOX4_HUMAN true false Enzyme Homo_sapiens NOX4 578 66931.0 8.8 Involved in oxidoreductase activity Constitutive NADPH oxidase which generates superoxide intracellularly upon formation of a complex with CYBA/p22phox. Regulates signaling cascades probably through phosphatases inhibition. May function as an oxygen sensor regulating the KCNK3/TASK-1 potassium channel and HIF1A activity. May regulate insulin signaling cascade. May play a role in apoptosis, bone resorption and lipolysaccharide-mediated activation of NFKB. May produce superoxide in the nucleus and play a role in regulating gene expression upon cell stimulation. Isoform 3 is not functional. Isoform 4 displays an increased activity. Isoform 5 and isoform 6 display reduced activity ["None"] ["17-37", "63-83", "104-124", "155-175", "189-209", "425-445"] AB041035 7939591 NOX4 Chromosome:1 11q14.2-q21 NOX4 HGNC:7891 true 2020-06-12T23:07:15Z 2020-07-28T02:28:51Z 0 1 0 3496 CDBP03495 L-amino-acid oxidase Q96RQ9 OXLA_HUMAN true false Enzyme Homo_sapiens IL4I1 567 65327.26 8.518 Involved in oxidoreductase activity Lysosomal L-amino-acid oxidase with highest specific activity with phenylalanine. May play a role in lysosomal antigen processing and presentation (By similarity). 2I8H AF293462 IL4I1 19 19q13.3-q13.4 IL4I1 HGNC:19094 true hsa:259307 NP_001244946.1:NM_001258017.1;NP_001244947.1:NM_001258018.1;NP_690863.1:NM_152899.1;NP_758962.1:NM_172374.2 Isoform 1 is primarily found in immune tissues. FAD 2020-06-12T23:07:15Z 2020-07-28T02:28:51Z 0 0 0 3497 CDBP03496 Oxidoreductase NAD-binding domain-containing protein 1 Q96HP4 OXND1_HUMAN true false Enzyme Homo_sapiens OXNAD1 312 34854.1 8.49 Involved in oxidoreductase activity ["1-17"] ["None"] NM_138381.3 19923907 OXNAD1 Chromosome:3 3p25-p24 OXNAD1 HGNC:25128 true 2020-06-12T23:07:15Z 2020-07-28T02:28:51Z 0 0 0 3498 CDBP03497 Prenylcysteine oxidase 1 Q9UHG3 PCYOX_HUMAN true false Enzyme Homo_sapiens PCYOX1 505 56639.66 6.179 Involved in oxidoreductase activity Involved in the degradation of prenylated proteins. Cleaves the thioether bond of prenyl-L-cysteines, such as farnesylcysteine and geranylgeranylcysteine. NM_016297.3 166795301 PCYOX1 2 2p13.3 PCYOX1 HGNC:20588 true hsa:51449 NP_057381.3:NM_016297.3 Ubiquitous. FAD 2020-06-12T23:07:15Z 2020-07-28T02:28:51Z 0 0 0 3499 CDBP03498 Prenylcysteine oxidase-like Q8NBM8 PCYXL_HUMAN true false Enzyme Homo_sapiens PCYOX1L 494 54646.1 7.34 Involved in oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor Probable oxidoreductase ["1-22"] ["None"] NM_024028.3 226442763 PCYOX1L Chromosome:5 5q32 PCYOX1L HGNC:28477 true 2020-06-12T23:07:15Z 2020-07-28T02:28:51Z 0 0 0 3500 CDBP03499 [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 2, mitochondrial Q9P2J9 PDP2_HUMAN true false Enzyme Homo_sapiens PDP2 529 59977.46 6.081 Involved in catalytic activity Catalyzes the dephosphorylation and concomitant reactivation of the alpha subunit of the E1 component of the pyruvate dehydrogenase complex (By similarity). NM_020786.1 41349497 PDP2 16 16q22.1 PDP2 HGNC:30263 true hsa:57546 NP_065837.1:NM_020786.2 magnesium ions Heterodimer of a catalytic subunit and a FAD protein of unknown function 2020-06-12T23:07:15Z 2020-07-28T02:28:51Z 0 1 0 3501 CDBP03500 Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 Q8WU10 PYRD1_HUMAN true false Enzyme Homo_sapiens PYROXD1 500 55792.4 5.65 Involved in oxidoreductase activity ["None"] ["None"] NM_024854.3 51036596 PYROXD1 Chromosome:1 12p12.1 PYROXD1 HGNC:26162 true 2020-06-12T23:07:15Z 2020-07-28T02:28:51Z 0 0 0 3502 CDBP03501 Sulfhydryl oxidase 1 O00391 QSOX1_HUMAN true false Enzyme Homo_sapiens QSOX1 747 66860.075 8.559 Involved in thiol oxidase activity Catalyzes the oxidation of sulfhydryl groups in peptide and protein thiols to disulfides with the reduction of oxygen to hydrogen peroxide. May contribute to disulfide bond formation in a variety of secreted proteins. In fibroblasts, it may have tumor-suppressing capabilities being involved in growth regulation. 3LLI;3LLK;3Q6O NM_002826.4 13325075 QSOX1 1 1q24 QSOX1 HGNC:9756 true hsa:5768 NP_001004128.1:NM_001004128.2;NP_002817.2:NM_002826.4 Expressed in heart, placenta, lung, liver, skeletal muscle, pancreas and very weakly in brain and kidney. FAD Monomer 2020-06-12T23:07:15Z 2020-07-28T02:28:51Z 0 0 0 3503 CDBP03502 Sulfhydryl oxidase 2 Q6ZRP7 QSOX2_HUMAN true false Enzyme Homo_sapiens QSOX2 698 77527.975 7.723 Involved in thiol oxidase activity Catalyzes the oxidation of sulfhydryl groups in peptide and protein thiols to disulfides with the reduction of oxygen to hydrogen peroxide. May contribute to disulfide bond formation in a variety of secreted proteins. Also seems to play a role in regulating the sensitization of neuroblastoma cells for interferon-gamma-induced apoptosis. AJ318051 30842594 QSOX2 9 9q34.3 QSOX2 HGNC:30249 true hsa:169714 NP_859052.3:NM_181701.3 Expressed in pancreas, brain, placenta, kidney, heart and fetal tissues. Weakly expressed in lung, liver and skeletal muscles. FAD 2020-06-12T23:07:15Z 2020-07-28T02:28:52Z 0 0 0 3504 CDBP03503 Renalase Q5VYX0 RNLS_HUMAN true false Enzyme Homo_sapiens RNLS 342 37847.0 6.5 Involved in oxidoreductase activity Probable FAD-dependent amine oxidase secreted by the kidney, which circulates in blood and modulates cardiac function and systemic blood pressure. Degrades catecholamines such as dopamine, norepinephrine and epinephrine in vitro. Lowers blood pressure in vivo by decreasing cardiac contractility and heart rate and preventing a compensatory increase in peripheral vascular tone, suggesting a causal link to the increased plasma catecholamine and heightened cardiovascular risk. High concentrations of catecholamines activate plasma renalase and promotes its secretion and synthesis. According to PubMed:17385068, is unlikely that renalase has physiologically relevant catecholamine-oxidizing activity ["1-17"] ["None"] NM_001031709.2 237649117 RNLS Chromosome:1 10q23.31 RNLS HGNC:25641 true 2020-06-12T23:07:15Z 2020-07-28T02:28:52Z 0 0 0 3505 CDBP03504 All-trans-retinol 13,14-reductase Q6NUM9 RETST_HUMAN true false Enzyme Homo_sapiens RETSAT 610 66818.935 8.274 Involved in electron carrier activity Retinol saturase carrying out the saturation of the 13-14 double bond of all-trans-retinol to produce all-trans-13,14-dihydroretinol. Has activity toward all-trans-retinol as substrate. Does not use all-trans-retinoic acid nor 9-cis, 11-cis or 13-cis-retinol isomers as substrates. May play a role in the metabolism of vitamin A (By similarity). AY358568 RETSAT 2 2p11.2 RETSAT HGNC:25991 true hsa:54884 NP_060220.3:NM_017750.3 NAD, NADP, or FAD 2020-06-12T23:07:15Z 2020-07-28T02:28:52Z 0 0 0 3506 CDBP03505 Sulfide:quinone oxidoreductase, mitochondrial Q9Y6N5 SQRD_HUMAN true false Enzyme Homo_sapiens SQRDL 450 49960.3 9.51 Involved in oxidoreductase activity Catalyzes the oxidation of hydrogen sulfide, with the help of a quinone ["None"] ["None"] AF042284 5256830 SQRDL Chromosome:1 15q15 SQRDL HGNC:20390 true 2020-06-12T23:07:15Z 2020-07-28T02:28:52Z 0 0 0 3507 CDBP03506 Metalloreductase STEAP1 Q9UHE8 STEA1_HUMAN true false Enzyme Homo_sapiens STEAP1 339 39850.8 9.65 Involved in iron ion binding Metalloreductase that has the ability to reduce both Fe(3+) to Fe(2+) and Cu(2+) to Cu(1+). Uses NAD(+) as acceptor ["None"] ["71-91", "119-139", "164-184", "218-238", "258-278", "291-311"] AC004969 37674417 STEAP1 Chromosome:7 7q21 STEAP1 HGNC:11378 true 2020-06-12T23:07:15Z 2020-07-28T02:28:52Z 0 1 0 3508 CDBP03507 Metalloreductase STEAP2 Q8NFT2 STEA2_HUMAN true false Enzyme Homo_sapiens STEAP2 490 56055.0 9.52 Involved in iron ion binding Metalloreductase that has the ability to reduce both Fe(3+) to Fe(2+) and Cu(2+) to Cu(1+). Uses NAD(+) as acceptor ["None"] ["208-228", "259-279", "305-325", "359-379", "393-413", "432-452"] NM_001040665.1 100913194 STEAP2 Chromosome:7 7q21 STEAP2 HGNC:17885 true 2020-06-12T23:07:15Z 2020-07-28T02:28:52Z 0 1 0 3509 CDBP03508 Metalloreductase STEAP4 Q687X5 STEA4_HUMAN true false Enzyme Homo_sapiens STEAP4 459 51980.7 9.61 Involved in iron ion binding Metalloreductase that has the ability to reduce both Fe(3+) to Fe(2+) and Cu(2+) to Cu(1+). Uses NAD(+) as acceptor. Play a role in systemic metabolic homeostasis, integrating inflammatory and metabolic responses. Associated with obesity and insulin-resistance. Involved in inflammatory arthritis, through the regulation of inflammatory cytokines. Inhibits anchorage-independent cell proliferation ["None"] ["196-216", "246-266", "293-313", "348-368", "381-401", "419-439"] AF423422 33312462 STEAP4 Chromosome:7 7q21.12 STEAP4 HGNC:21923 true 2020-06-12T23:07:15Z 2020-07-28T02:28:52Z 0 1 0 3510 CDBP03509 Iodotyrosine dehalogenase 1 Q6PHW0 IYD1_HUMAN true false Enzyme Homo_sapiens IYD 289 33781.22 7.187 Involved in oxidoreductase activity Catalyzes the oxidative NADPH-dependent deiodination of monoiodotyrosine (L-MIT) or diiodotyrosine (L-DIT). Acts during the hydrolysis of thyroglobulin to liberate iodide, which can then reenter the hormone-producing pathways. Acts more efficiently on monoiodotyrosine than on diiodotyrosine. AY259176 IYD 6 6q25.1 IYD HGNC:21071 true hsa:389434 NP_001158166.1:NM_001164694.1;NP_001158167.1:NM_001164695.1;NP_981932.1:NM_203395.2 Expressed at a high level in thyroid gland and at lower level in kidney and trachea. FMN Homodimer 2020-06-12T23:07:15Z 2020-07-28T02:28:52Z 0 0 0 3511 CDBP03510 tRNA wybutosine-synthesizing protein 1 homolog Q9NV66 TYW1_HUMAN false false Metal Binding Homo_sapiens TYW1 732 83701.7 6.87 Involved in iron ion binding Probable component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA ["None"] ["None"] NM_018264.2 50726981 TYW1 Chromosome:7 7q11.21 TYW1 HGNC:25598 true 2020-06-12T23:07:15Z 2020-07-28T02:32:04Z 0 1 0 3512 CDBP03511 tRNA wybutosine-synthesizing protein 1 homolog B Q6NUM6 TYW1B_HUMAN false false Metal Binding Homo_sapiens TYW1B 668 76945.9 6.22 Involved in iron ion binding Probable component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA ["None"] ["None"] NM_001145440.1 224282123 TYW1B Chromosome:7 7q11.23 TYW1B HGNC:33908 true 2020-06-12T23:07:15Z 2020-07-28T02:32:04Z 0 1 0 3513 CDBP03512 Active breakpoint cluster region-related protein Q12979 ABR_HUMAN false false Enzyme Homo_sapiens ABR 859 97696.1 6.59 Involved in Rho guanyl-nucleotide exchange factor activity GTPase-activating protein for RAC and CDC42. Promotes the exchange of RAC or CDC42-bound GDP by GTP, thereby activating them ["None"] ["None"] NM_021962.2 38679957 ABR Chromosome:1 17p13.3 ABR HGNC:81 true 2020-06-12T23:07:15Z 2020-07-28T02:33:59Z 0 0 0 3514 CDBP03513 Acyl-coenzyme A synthetase ACSM6, mitochondrial Q6P461 ACSM6_HUMAN true false Enzyme Homo_sapiens ACSM6 480 53584.545 8.409 Involved in catalytic activity NM_207321.2 195947378 ACSM6 10 10q23.33 ACSM6 HGNC:31665 true hsa:142827 NP_997204.2:NM_207321.2 Magnesium Monomer 2020-06-12T23:07:15Z 2020-07-28T02:28:52Z 0 1 0 3515 CDBP03514 ADP-ribosylation factor-like protein 2-binding protein Q9Y2Y0 AR2BP_HUMAN false false Enzyme Homo_sapiens ARL2BP 163 18821.9 3.97 Involved in small GTPase regulator activity May play a role as an effector of the ADP-ribosylation factor-like protein 2, ARL2 ["None"] ["None"] AF126062 4426962 ARL2BP Chromosome:1 16q13 ARL2BP HGNC:17146 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3516 CDBP03515 ADP-ribosylation factor 3 P61204 ARF3_HUMAN false false Enzyme Homo_sapiens ARF3 181 20600.6 7.59 Involved in GTP binding GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP- ribosyltransferase. Involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus ["None"] ["None"] 1R8Q AF493882 20147657 ARF3 Chromosome:1 12q13 ARF3 HGNC:654 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3517 CDBP03516 ADP-ribosylation factor 4 P18085 ARF4_HUMAN false false Enzyme Homo_sapiens ARF4 180 20510.6 7.25 Involved in GTP binding GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP- ribosyltransferase. Involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus ["None"] ["None"] 1Z6X M36341 178985 ARF4 Chromosome:3 3p21.2-p21.1 ARF4 HGNC:655 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3518 CDBP03517 ADP-ribosylation factor 5 P84085 ARF5_HUMAN false false Enzyme Homo_sapiens ARF5 180 20529.5 6.79 Involved in GTP binding GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP- ribosyltransferase. Involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus ["None"] ["None"] 1Z6X AF493884 20147661 ARF5 Chromosome:7 7q31.3 ARF5 HGNC:658 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3519 CDBP03518 ADP-ribosylation factor 6 P62330 ARF6_HUMAN false false Enzyme Homo_sapiens ARF6 175 20082.0 9.32 Involved in GTP binding GTP-binding protein involved in protein trafficking; regulates endocytic recycling and cytoskeleton remodeling. May modulate vesicle budding and uncoating within the Golgi apparatus. Functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase ["None"] ["None"] 1E0S M57763 ARF6 Chromosome:1 14q21.3 ARF6 HGNC:659 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3520 CDBP03519 ADP-ribosylation factor GTPase-activating protein 1 Q8N6T3 ARFG1_HUMAN true false Enzyme Homo_sapiens ARFGAP1 406 44667.6 5.34 Involved in ARF GTPase activator activity GTPase-activating protein (GAP) for the ADP ribosylation factor 1 (ARF1). Involved in membrane trafficking and /or vesicle transport. Promotes hydrolysis of the ARF1-bound GTP and thus, is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles, a prerequisite for vesicle's fusion with target compartment. Probably regulates ARF1-mediated transport via its interaction with the KDELR proteins and RNP24. Overexpression induces the redistribution of the entire Golgi complex to the endoplasmic reticulum, as when ARF1 is deactivated. Its activity is stimulated by phosphoinosides and inhibited by phosphatidylcholine ["None"] ["None"] NM_018209.2 8922652 ARFGAP1 Chromosome:2 20q13.33 ARFGAP1 HGNC:15852 true 2020-06-12T23:07:15Z 2020-07-28T02:28:53Z 0 1 0 3521 CDBP03520 ADP-ribosylation factor GTPase-activating protein 2 Q8N6H7 ARFG2_HUMAN true false Enzyme Homo_sapiens ARFGAP2 521 56719.9 8.13 Involved in ARF GTPase activator activity GTPase-activating protein (GAP) for ADP ribosylation factor 1 (ARF1). Implicated in coatomer-mediated protein transport between the Golgi complex and the endoplasmic reticulum. Hydrolysis of ARF1-bound GTP may lead to dissociation of coatomer from Golgi-derived membranes to allow fusion with target membranes ["None"] ["None"] NM_032389.3 31543983 ARFGAP2 Chromosome:1 11p11.2-p11.12 ARFGAP2 HGNC:13504 true 2020-06-12T23:07:15Z 2020-07-28T02:28:53Z 0 1 0 3522 CDBP03521 ADP-ribosylation factor GTPase-activating protein 3 Q9NP61 ARFG3_HUMAN true false Enzyme Homo_sapiens ARFGAP3 516 56927.9 7.41 Involved in ARF GTPase activator activity GTPase-activating protein (GAP) for ADP ribosylation factor 1 (ARF1). Hydrolysis of ARF1-bound GTP may lead to dissociation of coatomer from Golgi-derived membranes to allow fusion with target membranes ["None"] ["None"] AF111847 7211442 ARFGAP3 Chromosome:2 22q13.2 ARFGAP3 HGNC:661 true 2020-06-12T23:07:15Z 2020-07-28T02:28:53Z 0 1 0 3523 CDBP03522 Arfaptin-1 P53367 ARFP1_HUMAN false false Enzyme Homo_sapiens ARFIP1 373 41737.9 6.69 Involved in intracellular protein transport Putative target protein of ADP-ribosylation factor ["None"] ["None"] AF124489 4761516 ARFIP1 Chromosome:4 4q31.3 ARFIP1 HGNC:21496 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3524 CDBP03523 Arfaptin-2 P53365 ARFP2_HUMAN false false Enzyme Homo_sapiens ARFIP2 341 37855.5 5.91 Involved in GTP binding Putative target protein of ADP-ribosylation factor. Involved in membrane ruffling ["None"] ["None"] 1I4T BC000392 12653247 ARFIP2 Chromosome:1 11p15 ARFIP2 HGNC:17160 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3525 CDBP03524 Rho guanine nucleotide exchange factor 2 Q92974 ARHG2_HUMAN false false Enzyme Homo_sapiens ARHGEF2 986 111541.3 7.27 Involved in Rho guanyl-nucleotide exchange factor activity Activates Rho-GTPases by promoting the exchange of GDP for GTP. May be involved in epithelial barrier permeability, cell motility and polarization, dendritic spine morphology, antigen presentation, leukemic cell differentiation, cell cycle regulation, and cancer. Binds Rac-GTPases, but does not seem to promote nucleotide exchange activity toward Rac-GTPases, which was uniquely reported in PubMed:9857026. May stimulate instead the cortical activity of Rac. Inactive toward CDC42, TC10, or Ras- GTPases. Forms an intracellular sensing system along with NOD1 for the detection of microbial effectors during cell invasion by pathogens. Required for RHOA and RIP2 dependent NF-kappaB signaling pathways activation upon S.flexneri cell invasion. Involved not only in sensing peptidoglycan (PGN)-derived muropeptides through NOD1 that is independent of its GEF activity, but also in the activation of NF-kappaB by Shigella effector proteins (IpgB2 and OspB) which requires its GEF activity and the activation of RhoA ["None"] ["None"] NM_001162383.1 253735775 ARHGEF2 Chromosome:1 1q21-q22 ARHGEF2 HGNC:682 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3526 CDBP03525 Neuroepithelial cell-transforming gene 1 protein Q7Z628 ARHG8_HUMAN false false Enzyme Homo_sapiens NET1 596 67739.3 9.7 Involved in Rho guanyl-nucleotide exchange factor activity Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase. May be involved in activation of the SAPK/JNK pathway ["None"] ["None"] NM_001047160.1 114145479 NET1 Chromosome:1 10p15 NET1 HGNC:14592 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3527 CDBP03526 ADP-ribosylation factor-like protein 17 Q8IVW1 ARL17_HUMAN false false Enzyme Homo_sapiens ARL17A 177 19387.4 10.52 Involved in GTP binding GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP- ribosyltransferase. Involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus ["None"] ["None"] NM_001039083.3 156938237 ARL17A Chromosome:1 17q21.31 ARL17A HGNC:24096 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3528 CDBP03527 ADP-ribosylation factor-like protein 4C P56559 ARL4C_HUMAN false false Enzyme Homo_sapiens ARL4C 192 21486.8 9.59 Involved in GTP binding May be involved in transport between a perinuclear compartment and the plasma membrane, apparently linked to the ABCA1-mediated cholesterol secretion pathway ["None"] ["None"] NM_005737.3 6552296 ARL4C Chromosome:2 2q37.1 ARL4C HGNC:698 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3529 CDBP03528 ADP-ribosylation factor-like protein 5B Q96KC2 ARL5B_HUMAN false false Enzyme Homo_sapiens ARL5B 179 20374.4 6.5 Involved in GTP binding Binds and exchanges GTP and GDP ["None"] ["None"] 1YZG AF494061 21667501 ARL5B Chromosome:1 10p12.31 ARL5B HGNC:23052 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3530 CDBP03529 Putative ADP-ribosylation factor-like protein 5C A6NH57 ARL5C_HUMAN false false Enzyme Homo_sapiens ARL5C 179 20590.6 5.53 Involved in GTP binding Binds and exchanges GTP and GDP ["None"] ["None"] NM_001143968.1 221219071 ARL5C Chromosome:1 17q12 ARL5C HGNC:31111 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3531 CDBP03530 Brain-specific angiogenesis inhibitor 1-associated protein 2 Q9UQB8 BAIP2_HUMAN false false Enzyme Homo_sapiens BAIAP2 552 60867.1 9.29 Involved in cytoskeletal adaptor activity Adapter protein that links membrane-bound small G- proteins to cytoplasmic effector proteins. Necessary for CDC42- mediated reorganization of the actin cytoskeleton and for RAC1- mediated membrane ruffling. Involved in the regulation of the actin cytoskeleton by WASF family members and the Arp2/3 complex. Plays a role in neurite growth. Acts syngeristically with ENAH to promote filipodia formation ["None"] ["None"] 1Y2O NM_017451.2 9257199 BAIAP2 Chromosome:1 17q25 BAIAP2 HGNC:947 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3532 CDBP03531 Brefeldin A-inhibited guanine nucleotide-exchange protein 1 Q9Y6D6 BIG1_HUMAN false false Enzyme Homo_sapiens ARFGEF1 1849 208765.2 5.65 Involved in binding Promotes guanine-nucleotide exchange on ARF1 and ARF3. Promotes the activation of ARF1/ARF3 through replacement of GDP with GTP ["None"] ["None"] AF084520 5052121 ARFGEF1 Chromosome:8 8q13 ARFGEF1 HGNC:15772 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3533 CDBP03532 Brefeldin A-inhibited guanine nucleotide-exchange protein 2 Q9Y6D5 BIG2_HUMAN false false Enzyme Homo_sapiens ARFGEF2 1785 202036.5 6.28 Involved in binding Promotes guanine-nucleotide exchange on ARF1, ARF5 and ARF6. Promotes the activation of ARF1/ARF5/ARF6 through replacement of GDP with GTP ["None"] ["None"] AF084521 5052123 ARFGEF2 Chromosome:2 20q13.13 ARFGEF2 HGNC:15853 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3534 CDBP03533 Cdc42 effector protein 2 O14613 BORG1_HUMAN false false Enzyme Homo_sapiens CDC42EP2 210 22483.3 4.73 Involved in GTP-Rho binding Probably involved in the organization of the actin cytoskeleton. May act downstream of CDC42 to induce actin filament assembly leading to cell shape changes. Induces pseudopodia formation in fibroblasts in a CDC42-dependent manner ["None"] ["None"] AF001436 2529711 CDC42EP2 Chromosome:1 11q13 CDC42EP2 HGNC:16263 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3535 CDBP03534 Cdc42 effector protein 3 Q9UKI2 BORG2_HUMAN false false Enzyme Homo_sapiens CDC42EP3 254 27677.8 5.58 Involved in cytoskeletal regulatory protein binding Probably involved in the organization of the actin cytoskeleton. May act downstream of CDC42 to induce actin filament assembly leading to cell shape changes. Induces pseudopodia formation in fibroblasts ["None"] ["None"] AC006369 62702145 CDC42EP3 Chromosome:2 2p21 CDC42EP3 HGNC:16943 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3536 CDBP03535 Cdc42 effector protein 5 Q6NZY7 BORG3_HUMAN false false Enzyme Homo_sapiens CDC42EP5 148 15207.1 7.69 Involved in GTP-Rho binding Probably involved in the organization of the actin cytoskeleton. May act downstream of CDC42 to induce actin filament assembly leading to cell shape changes. Induces pseudopodia formation in fibroblasts. Inhibits MAPK8 independently of CDC42 binding. Controls septin organization and this effect is negatively regulated by CDC42 ["None"] ["None"] BC024327 19354244 CDC42EP5 Chromosome:1 19q13.42 CDC42EP5 HGNC:17408 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3537 CDBP03536 Cdc42 effector protein 4 Q9H3Q1 BORG4_HUMAN false false Enzyme Homo_sapiens CDC42EP4 356 37979.4 4.82 Involved in GTP-Rho binding Probably involved in the organization of the actin cytoskeleton. May act downstream of CDC42 to induce actin filament assembly leading to cell shape changes. Induces pseudopodia formation, when overexpressed in fibroblasts ["None"] ["None"] AB042237 11036449 CDC42EP4 Chromosome:1 17q24-q25 CDC42EP4 HGNC:17147 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3538 CDBP03537 Cdc42 effector protein 1 Q00587 BORG5_HUMAN false false Enzyme Homo_sapiens CDC42EP1 391 40294.4 7.17 Transcription Probably involved in the organization of the actin cytoskeleton. Induced membrane extensions in fibroblasts ["None"] ["None"] NM_152243.2 23238226 CDC42EP1 Chromosome:2 22q13.1 CDC42EP1 HGNC:17014 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3539 CDBP03538 CDC42 small effector protein 1 Q9NRR8 C42S1_HUMAN false false Enzyme Homo_sapiens CDC42SE1 79 8925.3 10.76 Involved in GTPase inhibitor activity Probably involved in the organization of the actin cytoskeleton by acting downstream of CDC42, inducing actin filament assembly. Alters CDC42-induced cell shape changes. In activated T-cells, may play a role in CDC42-mediated F-actin accumulation at the immunological synapse. May play a role in early contractile events in phagocytosis in macrophages ["None"] ["None"] AF187845 9453924 CDC42SE1 Chromosome:1 1q21.3 CDC42SE1 HGNC:17719 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3540 CDBP03539 CDC42 small effector protein 2 Q9NRR3 C42S2_HUMAN false false Enzyme Homo_sapiens CDC42SE2 84 9223.5 8.52 Involved in protein binding Probably involved in the organization of the actin cytoskeleton by acting downstream of CDC42, inducing actin filament assembly. Alters CDC42-induced cell shape changes. In activated T-cells, may play a role in CDC42-mediated F-actin accumulation at the immunological synapse. May play a role in early contractile events in phagocytosis in macrophages ["None"] ["None"] AF189692 9453926 CDC42SE2 Chromosome:5 5q31.1 CDC42SE2 HGNC:18547 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3541 CDBP03540 Cell cycle progression protein 1 Q9ULG6 CCPG1_HUMAN false false Enzyme Homo_sapiens CCPG1 757 87339.7 5.78 Replication, recombination and repair Acts as an assembly platform for Rho protein signaling complexes. Limits guanine nucleotide exchange activity of MCF2L toward RHOA, which results in an inhibition of both its transcriptional activation ability and its transforming activity. Does not inhibit activity of MCF2L toward CDC42, or activity of MCF2 toward either RHOA or CDC42. May be involved in cell cycle regulation ["None"] ["218-238"] NM_004748.3 75677585 CCPG1 Chromosome:1 15q21.1 CCPG1 HGNC:24227 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3542 CDBP03541 Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1 Q15027 ACAP1_HUMAN false false Metal Binding Homo_sapiens ACAP1 740 81535.1 7.7 Involved in ARF GTPase activator activity GTPase-activating protein (GAP) for ADP ribosylation factor 6 (ARF6) required for clathrin-dependent export of proteins from recycling endosomes to trans-Golgi network and cell surface ["None"] ["None"] BC018543 17391289 ACAP1 Chromosome:1 17p13.1 ACAP1 HGNC:16467 true 2020-06-12T23:07:15Z 2020-07-28T02:32:04Z 0 1 0 3543 CDBP03542 Cdc42-interacting protein 4 Q15642 CIP4_HUMAN false false Enzyme Homo_sapiens TRIP10 601 68351.7 5.45 Involved in identical protein binding Required for translocation of GLUT4 to the plasma membrane in response to insulin signaling. Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during endocytosis. Binds to lipids such as phosphatidylinositol 4,5-bisphosphate and phosphatidylserine and promotes membrane invagination and the formation of tubules. Also promotes CDC42-induced actin polymerization by recruiting WASL/N- WASP which in turn activates the Arp2/3 complex. Actin polymerization may promote the fission of membrane tubules to form endocytic vesicles. Required for the formation of podosomes, actin-rich adhesion structures specific to monocyte-derived cells. May be required for the lysosomal retention of FASLG/FASL ["None"] ["None"] AF502289 21311785 TRIP10 Chromosome:1 19p13.3 TRIP10 HGNC:12304 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3544 CDBP03543 Coatomer subunit alpha P53621 COPA_HUMAN false false Metal Binding Homo_sapiens COPA 1224 138344.6 7.71 Involved in structural molecule activity Xenin stimulates exocrine pancreatic secretion. It inhibits pentagastrin-stimulated secretion of acid, to induce exocrine pancreatic secretion and to affect small and large intestinal motility. In the gut, xenin interacts with the neurotensin receptor ["None"] ["None"] AL445230 55959859 COPA Chromosome:1 1q23-q25 COPA HGNC:2230 true 2020-06-12T23:07:15Z 2020-07-28T02:32:04Z 0 1 0 3545 CDBP03544 Coatomer subunit beta' P35606 COPB2_HUMAN false false Enzyme Homo_sapiens COPB2 906 102486.4 4.93 Involved in structural molecule activity This coatomer complex protein, essential for Golgi budding and vesicular trafficking, is a selective binding protein (RACK) for protein kinase C, epsilon type. It binds to Golgi membranes in a GTP-dependent manner ["None"] ["None"] BC000326 12653119 COPB2 Chromosome:3 3q23 COPB2 HGNC:2232 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3546 CDBP03545 Coatomer subunit beta P53618 COPB_HUMAN false false Enzyme Homo_sapiens COPB1 953 107141.1 5.92 Involved in binding The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non- clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors ["None"] ["None"] AF084457 5257007 COPB1 Chromosome:1 11p15.2 COPB1 HGNC:2231 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3547 CDBP03546 Coatomer subunit delta P48444 COPD_HUMAN false false Enzyme Homo_sapiens ARCN1 511 57209.9 6.11 Involved in protein binding The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non- clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors ["None"] ["None"] BC093636 62739405 ARCN1 Chromosome:1 11q23.3 ARCN1 HGNC:649 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3548 CDBP03547 Coatomer subunit epsilon O14579 COPE_HUMAN false false Enzyme Homo_sapiens COPE 308 34481.6 4.75 Involved in structural molecule activity The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non- clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors ["None"] ["None"] NM_007263.3 31542319 COPE Chromosome:1 19p13.11 COPE HGNC:2234 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3549 CDBP03548 Coatomer subunit gamma-2 Q9UBF2 COPG2_HUMAN false false Enzyme Homo_sapiens COPG2 871 97621.3 5.58 Involved in binding The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non- clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors ["None"] ["None"] AB047847 11094285 COPG2 Chromosome:7 7q32 COPG2 HGNC:2237 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3550 CDBP03549 Coatomer subunit gamma Q9Y678 COPG_HUMAN false false Enzyme Homo_sapiens COPG 874 97717.3 5.14 Involved in binding The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non- clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors ["None"] ["None"] 1PZD AF100756 COPG Chromosome:3 3q21.3 COPG HGNC:2236 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3551 CDBP03550 Coatomer subunit zeta-1 P61923 COPZ1_HUMAN false false Enzyme Homo_sapiens COPZ1 177 20198.0 4.43 Involved in protein binding The zeta subunit may be involved in regulating the coat assembly and, hence, the rate of biosynthetic protein transport due to its association-dissociation properties with the coatomer complex ["None"] ["None"] AB047848 11094287 COPZ1 Chromosome:1 12q13.2-q13.3 COPZ1 HGNC:2243 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3552 CDBP03551 Cytoplasmic FMR1-interacting protein 1 Q7L576 CYFP1_HUMAN false false Enzyme Homo_sapiens CYFIP1 1253 145181.2 6.9 Involved in actin filament binding Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit is an adapter between EIF4E and FMR1. Promotes the translation repression activity of FMR1 in brain probably by mediating its association with EIF4E and mRNA. Involved in formation of membrane ruffles and lamellipodia protrusions and in axon outgrowth. Binds to F-actin but not to RNA. Regulator of epithelial morphogenesis. May act as an invasion suppressor in cancers ["None"] ["None"] NM_014608.2 24307969 CYFIP1 Chromosome:1 15q11 CYFIP1 HGNC:13759 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3553 CDBP03552 Cytohesin-1 Q15438 CYH1_HUMAN false false Enzyme Homo_sapiens CYTH1 398 46412.3 5.21 Involved in ARF guanyl-nucleotide exchange factor activity Promotes guanine-nucleotide exchange on ARF1 and ARF5. Promotes the activation of ARF through replacement of GDP with GTP ["None"] ["None"] 1BC9 NM_004762.2 4758964 CYTH1 Chromosome:1 17q25 CYTH1 HGNC:9501 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3554 CDBP03553 Cytohesin-2 Q99418 CYH2_HUMAN false false Enzyme Homo_sapiens CYTH2 400 46545.7 5.21 Involved in ARF guanyl-nucleotide exchange factor activity Promotes guanine-nucleotide exchange on ARF1, ARF3 and ARF6. Promotes the activation of ARF through replacement of GDP with GTP ["None"] ["None"] 1R8Q X99753 1834466 CYTH2 Chromosome:1 19q13.33 CYTH2 HGNC:9502 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3555 CDBP03554 Cytohesin-3 O43739 CYH3_HUMAN false false Enzyme Homo_sapiens CYTH3 400 46348.2 5.13 Involved in ARF guanyl-nucleotide exchange factor activity Promotes guanine-nucleotide exchange on ARF1. Promotes the activation of ARF through replacement of GDP with GTP ["None"] ["None"] AJ005197 3297789 CYTH3 Chromosome:7 7p22.1 CYTH3 HGNC:9504 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3556 CDBP03555 Cytohesin-4 Q9UIA0 CYH4_HUMAN false false Enzyme Homo_sapiens CYTH4 394 45671.6 6.41 Involved in ARF guanyl-nucleotide exchange factor activity Promotes guanine-nucleotide exchange on ARF1 and ARF5. Promotes the activation of ARF through replacement of GDP with GTP ["None"] ["None"] AF075458 6531383 CYTH4 Chromosome:2 22q12.3-q13.1 CYTH4 HGNC:9505 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3557 CDBP03556 Disheveled-associated activator of morphogenesis 1 Q9Y4D1 DAAM1_HUMAN false false Enzyme Homo_sapiens DAAM1 1078 123472.4 7.24 Involved in actin binding Binds to disheveled (Dvl) and Rho, and mediates Wnt- induced Dvl-Rho complex formation. May play a role as a scaffolding protein to recruit Rho-GDP and Rho-GEF, thereby enhancing Rho-GTP formation. Can direct nucleation and elongation of new actin filaments ["None"] ["None"] NM_014992.1 21071077 DAAM1 Chromosome:1 14q23.1 DAAM1 HGNC:18142 true 2020-06-12T23:07:15Z 2020-07-28T02:34:00Z 0 0 0 3558 CDBP03557 Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein Q70Z35 PREX2_HUMAN false false Enzyme Homo_sapiens PREX2 1606 182620.5 7.46 Involved in intracellular signaling pathway Functions as a RAC1 guanine nucleotide exchange factor (GEF), activating Rac proteins by exchanging bound GDP for free GTP. Its activity is synergistically activated by phosphatidylinositol-3,4,5-triphosphate and the beta gamma subunits of heterotrimeric G protein. Mediates the activation of RAC1 in a PI3K-dependent manner. May be an important mediator of Rac signaling, acting directly downstream of both G protein- coupled receptors and phosphoinositide 3-kinase ["None"] ["None"] NM_024870.2 47578115 PREX2 Chromosome:8 8q13.2 PREX2 HGNC:22950 true 2020-06-12T23:07:15Z 2020-07-28T02:34:01Z 0 0 0 3559 CDBP03558 Protein diaphanous homolog 1 O60610 DIAP1_HUMAN false false Enzyme Homo_sapiens DIAPH1 1272 141346.0 5.07 Involved in actin binding Acts in a Rho-dependent manner to recruit PFY1 to the membrane. Required for the assembly of F-actin structures, such as actin cables and stress fibers. Nucleates actin filaments. Binds to the barbed end of the actin filament and slows down actin polymerization and depolymerization. Required for cytokinesis, and transcriptional activation of the serum response factor. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics. Functions as a scaffold protein for MAPRE1 and APC to stabilize microtubules and promote cell migration. Has neurite outgrowth promoting activity. In hear cells, it may play a role in the regulation of actin polymerization in hair cells ["None"] ["None"] 1V9D NM_005219.4 119395758 DIAPH1 Chromosome:5 5q31 DIAPH1 HGNC:2876 true 2020-06-12T23:07:15Z 2020-07-28T02:34:01Z 0 0 0 3560 CDBP03559 Protein diaphanous homolog 2 O60879 DIAP2_HUMAN false false Enzyme Homo_sapiens DIAPH2 1101 125568.0 6.54 Involved in actin binding Could be involved in oogenesis. Involved in the regulation of endosome dynamics. Implicated in a novel signal transduction pathway, in which isoform 3 and CSK are sequentially activated by RHOD to regulate the motility of early endosomes through interactions with the actin cytoskeleton ["None"] ["None"] AL031053 57208221 DIAPH2 DIAPH2 HGNC:2877 true 2020-06-12T23:07:15Z 2020-07-28T02:34:01Z 0 0 0 3561 CDBP03560 Protein diaphanous homolog 3 Q9NSV4 DIAP3_HUMAN false false Enzyme Homo_sapiens DIAPH3 1193 136924.6 7.04 Involved in actin binding Binds to GTP-bound form of Rho and to profilin. Acts in a Rho-dependent manner to recruit profilin to the membrane, where it promotes actin polymerization. It is required for cytokinesis, stress fiber formation, and transcriptional activation of the serum response factor. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics ["None"] ["None"] NM_001042517.1 110225351 DIAPH3 Chromosome:1 13q21.2 DIAPH3 HGNC:15480 true 2020-06-12T23:07:15Z 2020-07-28T02:34:01Z 0 0 0 3562 CDBP03561 GTP-binding protein Di-Ras1 O95057 DIRA1_HUMAN false false Enzyme Homo_sapiens DIRAS1 198 22328.6 8.97 Involved in GTP binding Displays low GTPase activity and exist predominantly in the GTP-bound form ["None"] ["None"] AB076888 21624248 DIRAS1 Chromosome:1 19p13.3 DIRAS1 HGNC:19127 true 2020-06-12T23:07:15Z 2020-07-28T02:34:01Z 0 0 0 3563 CDBP03562 GTP-binding protein Di-Ras2 Q96HU8 DIRA2_HUMAN false false Enzyme Homo_sapiens DIRAS2 199 22484.8 9.02 Involved in GTP binding Displays low GTPase activity and exist predominantly in the GTP-bound form ["None"] ["None"] AB076889 21624250 DIRAS2 Chromosome:9 9q22.2 DIRAS2 HGNC:19323 true 2020-06-12T23:07:15Z 2020-07-28T02:34:01Z 0 0 0 3564 CDBP03563 Dynamin-1-like protein O00429 DNM1L_HUMAN false false Enzyme Homo_sapiens DNM1L 736 78099.3 6.811 Involved in GTP binding Functions in mitochondrial and peroxisomal division. Mediates membrane fission through oligomerization into ring-like structures which wrap around the scission site to constict and sever the mitochondrial membrane through a GTP hydrolysis-dependent mechanism. Required for normal brain development. Facilitates developmentally-regulated apoptosis during neural tube development. Required for a normal rate of cytochrome c release and caspase activation during apoptosis. Also required for mitochondrial fission during mitosis. Required for programmed necrosis execution. May be involved in vesicle transport. Isoform 1 and isoform 4 inhibit peroxisomal division when overexpressed. AB006965 DNM1L 12 12p11.21 DNM1L HGNC:2973 true hsa:10059 NP_005681.2:NM_005690.3;NP_036192.2:NM_012062.3;NP_036193.2:NM_012063.2 Ubiquitously expressed with highest levels found in skeletal muscles, heart, kidney and brain. Isoform 1 is brain-specific. Isoform 2 and isoform 3 are predominantly expressed in testis and skeletal muscles respectively. Isoform 4 is weakly expressed in brain, heart and kidney. Isoform 5 is dominantly expressed in liver, heart and kidney. Isoform 6 is expressed in neurons. Homotetramer; dimerizes through the N-terminal GTP-middle region of one molecule binding to the GED domain of another DNM1L molecule. Can self-assemble in multimeric ring-like structures. Interacts with BCL2L1; the interaction stimulates the GTPase activity of DMN1L in synapses and increases the number of axonal mitochondria and the size and number of synaptic vesicle clusters. Interacts with FIS1 . Interacts with GSK3B and MARCH5. Interacts (via the GTPase and B domains) with UBE2I; the interaction promotes sumoylation of DNM1L, mainly in ite B domain. Interacts with PPP3CA; the interaction dephosphorylates DNM1L and regulates its transition to mitochondria. Interacts witn MID49 and MID51. Interacts with PGAM5; this interaction leads to dephosphorylation at Ser-637 and activation of GTPase activity and eventually to mitochondria fragmentation 2020-06-12T23:07:15Z 2020-07-28T02:34:01Z 0 0 0 3565 CDBP03564 Dedicator of cytokinesis protein 10 Q96BY6 DOC10_HUMAN false false Enzyme Homo_sapiens DOCK10 2183 249310.2 6.93 Involved in guanyl-nucleotide exchange factor activity Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging bound GDP for free GTP ["None"] ["None"] 154146189 DOCK10 Chromosome:2 2q36.2 DOCK10 HGNC:23479 true 2020-06-12T23:07:15Z 2020-07-28T02:34:01Z 0 0 0 3566 CDBP03565 Dedicator of cytokinesis protein 11 Q5JSL3 DOC11_HUMAN false false Enzyme Homo_sapiens DOCK11 2073 237668.7 7.79 Involved in guanyl-nucleotide exchange factor activity Guanine nucleotide-exchange factor (GEF) that activates CDC42 by exchanging bound GDP for free GTP ["None"] ["None"] NM_144658.3 145699123 DOCK11 DOCK11 HGNC:23483 true 2020-06-12T23:07:15Z 2020-07-28T02:34:01Z 0 0 0 3567 CDBP03566 Dedicator of cytokinesis protein 1 Q14185 DOCK1_HUMAN false false Enzyme Homo_sapiens DOCK1 1865 215344.1 7.61 Involved in guanyl-nucleotide exchange factor activity Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Functions as a guanine nucleotide exchange factor (GEF), which activates Rac Rho small GTPases by exchanging bound GDP for free GTP. Its GEF activity may be enhanced by ELMO1 ["None"] ["None"] AL157711 122889127 DOCK1 Chromosome:1 10q26.13-q26.3 DOCK1 HGNC:2987 true 2020-06-12T23:07:15Z 2020-07-28T02:34:01Z 0 0 0 3568 CDBP03567 Dedicator of cytokinesis protein 2 Q92608 DOCK2_HUMAN false false Metal Binding Homo_sapiens DOCK2 1830 211946.7 6.87 Involved in iron ion binding Involved in cytoskeletal rearrangements required for lymphocyte migration in response of chemokines. Activates RAC1 and RAC2 small GTPases, probably by functioning as a guanine nucleotide exchange factor (GEF), which exchanges bound GDP for free GTP. May also participate in IL2 transcriptional activation via the activation of RAC2 ["None"] ["None"] NM_004946.2 31377468 DOCK2 Chromosome:5 5q35.1 DOCK2 HGNC:2988 true 2020-06-12T23:07:15Z 2020-07-28T02:32:04Z 0 1 0 3569 CDBP03568 Dedicator of cytokinesis protein 3 Q8IZD9 DOCK3_HUMAN false false Enzyme Homo_sapiens DOCK3 2030 233101.1 6.97 Involved in guanyl-nucleotide exchange factor activity Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging bound GDP for free GTP. Its interaction with presenilin proteins as well as its ability to stimulate Tau/MAPT phosphorylation suggest that it may be involved in Alzheimer disease. Ectopic expression in nerve cells decreases the secretion of beta-amyloid APBA1 protein and lowers the rate of cell-substratum adhesion, suggesting that it may affect the function of some small GTPase involved in the regulation of actin cytoskeleton or cell adhesion receptors ["None"] ["None"] NM_004947.4 31415870 DOCK3 Chromosome:3 3p21.2 DOCK3 HGNC:2989 true 2020-06-12T23:07:15Z 2020-07-28T02:34:01Z 0 0 0 3570 CDBP03569 Dedicator of cytokinesis protein 4 Q8N1I0 DOCK4_HUMAN false false Enzyme Homo_sapiens DOCK4 1966 225204.3 7.68 Involved in guanyl-nucleotide exchange factor activity Involved in regulation of adherens junction between cells. Functions as a guanine nucleotide exchange factor (GEF), which activates Rap1 small GTPase by exchanging bound GDP for free GTP ["None"] ["None"] NM_014705.3 92091572 DOCK4 Chromosome:7 7q31.1 DOCK4 HGNC:19192 true 2020-06-12T23:07:15Z 2020-07-28T02:34:01Z 0 0 0 3571 CDBP03570 Dedicator of cytokinesis protein 5 Q9H7D0 DOCK5_HUMAN false false Enzyme Homo_sapiens DOCK5 1870 215306.9 8.08 Involved in binding Guanine nucleotide exchange factor (GEF) for Rho and Rac. GEF proteins activate small GTPases by exchanging bound GDP for free GTP ["None"] ["None"] NM_024940.6 117553586 DOCK5 Chromosome:8 8p21.2 DOCK5 HGNC:23476 true 2020-06-12T23:07:15Z 2020-07-28T02:34:01Z 0 0 0 3572 CDBP03571 Dedicator of cytokinesis protein 6 Q96HP0 DOCK6_HUMAN false false Enzyme Homo_sapiens DOCK6 2047 229555.6 6.72 Involved in guanyl-nucleotide exchange factor activity Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging bound GDP for free GTP ["None"] ["None"] NM_020812.2 157426887 DOCK6 Chromosome:1 19p13.2 DOCK6 HGNC:19189 true 2020-06-12T23:07:15Z 2020-07-28T02:34:01Z 0 0 0 3573 CDBP03572 Dedicator of cytokinesis protein 7 Q96N67 DOCK7_HUMAN false false Enzyme Homo_sapiens DOCK7 2140 242558.3 6.78 Involved in guanyl-nucleotide exchange factor activity Functions as a guanine nucleotide exchange factor (GEF), which activates Rac1 and Rac3 Rho small GTPases by exchanging bound GDP for free GTP. Does not have a GEF activity for CDC42. Required for STMN1 'Ser-15' phosphorylation during axon formation and consequently for neuronal polarization ["None"] ["None"] 54112429 DOCK7 Chromosome:1 1p31.3 DOCK7 HGNC:19190 true 2020-06-12T23:07:16Z 2020-07-28T02:34:01Z 0 0 0 3574 CDBP03573 Dedicator of cytokinesis protein 8 Q8NF50 DOCK8_HUMAN false false Enzyme Homo_sapiens DOCK8 2099 238526.7 6.86 Involved in binding Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging bound GDP for free GTP ["None"] ["None"] AB191037 76150613 DOCK8 Chromosome:9 9p24.3 DOCK8 HGNC:19191 true 2020-06-12T23:07:16Z 2020-07-28T02:34:01Z 0 0 0 3575 CDBP03574 Dedicator of cytokinesis protein 9 Q9BZ29 DOCK9_HUMAN false false Enzyme Homo_sapiens DOCK9 2069 236443.6 7.51 Involved in guanyl-nucleotide exchange factor activity Guanine nucleotide-exchange factor (GEF) that activates CDC42 by exchanging bound GDP for free GTP. Overexpression induces filopodia formation ["None"] ["None"] 1WG7 NM_015296.2 24308029 DOCK9 Chromosome:1 13q32.3 DOCK9 HGNC:14132 true 2020-06-12T23:07:16Z 2020-07-28T02:34:01Z 0 0 0 3576 CDBP03575 Developmentally-regulated GTP-binding protein 1 Q9Y295 DRG1_HUMAN false false Enzyme Homo_sapiens DRG1 367 40541.8 9.31 Involved in GTP binding May play a role in cell proliferation, differentiation and death ["None"] ["None"] AF078103 4218945 DRG1 Chromosome:2 22q12.2 DRG1 HGNC:3029 true 2020-06-12T23:07:16Z 2020-07-28T02:34:01Z 0 0 0 3577 CDBP03576 Developmentally-regulated GTP-binding protein 2 P55039 DRG2_HUMAN false false Enzyme Homo_sapiens DRG2 364 40746.1 9.2 Involved in GTP binding May play a role in cell proliferation, differentiation and death ["None"] ["None"] AK313362 189066615 DRG2 Chromosome:1 17p11.2 DRG2 HGNC:3030 true 2020-06-12T23:07:16Z 2020-07-28T02:34:01Z 0 0 0 3578 CDBP03577 Dynamin-1 Q05193 DYN1_HUMAN false false Receptor Homo_sapiens DNM1 864 96040.03 7.005 Involved in GTP binding Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Most probably involved in vesicular trafficking processes. Involved in receptor-mediated endocytosis. 1DYN;2DYN;2X2E;2X2F;3SNH;3ZYC;3ZYS AL590708 55961114 DNM1 9 9q34 DNM1 HGNC:2972 true hsa:1759 NP_001005336.1:NM_001005336.1;NP_004399.2:NM_004408.2 Interacts with CAV1 and SH3GLB1. Binds SH3GL1, SH3GL2 and SH3GL3 . Interacts with PHOCN (By similarity). Interacts with SNX9. Interacts with MYO1E (via SH3 domain) 2020-06-12T23:07:16Z 2020-07-28T02:32:20Z 1 0 0 3579 CDBP03578 Dynamin-2 P50570 DYN2_HUMAN false false Enzyme Homo_sapiens DNM2 870 98063.335 7.451 Involved in GTP binding Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Most probably involved in vesicular trafficking processes, in particular endocytosis. Involved in cytokinesis. 2YS1 NM_001005360.2 56549121 DNM2 19 19p13.2 DNM2 HGNC:2974 true hsa:1785 NP_001005360.1:NM_001005360.2;NP_001005361.1:NM_001005361.2;NP_001005362.1:NM_001005362.2;NP_001177645.1:NM_001190716.1;NP_004936.2:NM_004945.3 Ubiquitously expressed. Interacts with MYOF . Interacts with SHANK1, SHANK2, SH3BP4 and NOSTRIN. Interacts with SNX9. Interacts with MYO1E (via SH3 domain) 2020-06-12T23:07:16Z 2020-07-28T02:34:01Z 1 0 1 3580 CDBP03579 Dynamin-3 Q9UQ16 DYN3_HUMAN false false Enzyme Homo_sapiens DNM3 869 96681.0 8.228 Involved in GTP binding Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Most probably involved in vesicular trafficking processes, in particular endocytosis (By similarity). 3L43 NM_001136127 209915561 DNM3 1 1q24.3 DNM3 HGNC:29125 true hsa:26052 NP_001129599.1:NM_001136127.1;NP_056384.2:NM_015569.3 2020-06-12T23:07:16Z 2020-07-28T02:34:01Z 0 0 0 3581 CDBP03580 Putative elongation factor 1-alpha-like 3 Q5VTE0 EF1A3_HUMAN false false Enzyme Homo_sapiens EEF1AL3 462 50184.7 9.58 Involved in GTPase activity This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis ["None"] ["None"] NM_001402 4503471 EEF1AL3 EEF1AL3 HGNC:3200 true 2020-06-12T23:07:16Z 2020-07-28T02:34:01Z 0 0 0 3582 CDBP03581 Elongation factor 1-beta P24534 EF1B_HUMAN false false Enzyme Homo_sapiens EEF1B2 225 24763.5 4.26 Involved in translation elongation factor activity EF-1-beta and EF-1-delta stimulate the exchange of GDP bound to EF-1-alpha to GTP ["None"] ["None"] 1B64 AC007383 62822514 EEF1B2 Chromosome:2 2q33.3 EEF1B2 HGNC:3208 true 2020-06-12T23:07:16Z 2020-07-28T02:34:01Z 0 0 0 3583 CDBP03582 Elongation factor 1-delta P29692 EF1D_HUMAN false false Enzyme Homo_sapiens EEF1D 281 31121.6 4.63 Involved in translation elongation factor activity EF-1-beta and EF-1-delta stimulate the exchange of GDP bound to EF-1-alpha to GTP ["None"] ["None"] 1B64 NM_001130055.2 194239727 EEF1D Chromosome:8 8q24.3 EEF1D HGNC:3211 true 2020-06-12T23:07:16Z 2020-07-28T02:34:01Z 0 0 0 3584 CDBP03583 Elongation factor G, mitochondrial Q96RP9 EFGM_HUMAN false false Enzyme Homo_sapiens GFM1 751 83470.9 7.01 Involved in GTPase activity Mitochondrial GTPase that plays a central role in protein elongation by promoting the GTP-dependent translocation of the nascent protein chain from the A-site to the P-site of the ribosome. Does not mediate the disassembly of ribosomes from messenger RNA at the termination of mitochondrial protein biosynthesis ["None"] ["None"] NM_024996.5 18390331 GFM1 Chromosome:3 3q25 GFM1 HGNC:13780 true 2020-06-12T23:07:16Z 2020-07-28T02:34:01Z 0 0 0 3585 CDBP03584 Ribosome-releasing factor 2, mitochondrial Q969S9 RRF2M_HUMAN false false Enzyme Homo_sapiens GFM2 779 86599.7 6.47 Involved in GTPase activity Mitochondrial GTPase that mediates the disassembly of ribosomes from messenger RNA at the termination of mitochondrial protein biosynthesis. Acts in collaboration with MRRF. GTP hydrolysis follows the ribosome disassembly and probably occurs on the ribosome large subunit. Not involved in protein elongation and does not promote the GTP-dependent translocation of the nascent protein chain from the A-site to the P-site of the ribosome ["None"] ["None"] NM_032380.3 19923640 GFM2 Chromosome:5 5q13 GFM2 HGNC:29682 true 2020-06-12T23:07:16Z 2020-07-28T02:34:01Z 0 0 0 3586 CDBP03585 Elongation factor Ts, mitochondrial P43897 EFTS_HUMAN false false Enzyme Homo_sapiens TSFM 325 35390.4 8.56 Involved in translation elongation factor activity Associates with the EF-Tu.GDP complex and induces the exchange of GDP to GTP. It remains bound to the aminoacyl-tRNA.EF- Tu.GTP complex up to the GTP hydrolysis stage on the ribosome ["None"] ["None"] 1XB2 AF110399 4416086 TSFM Chromosome:1 12q14.1 TSFM HGNC:12367 true 2020-06-12T23:07:16Z 2020-07-28T02:34:01Z 0 0 0 3587 CDBP03586 Elongation factor Tu, mitochondrial P49411 EFTU_HUMAN false false Enzyme Homo_sapiens TUFM 452 49541.1 7.68 Involved in GTPase activity This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis ["None"] ["None"] 1D2E L38995 704416 TUFM Chromosome:1 16p11.2 TUFM HGNC:12420 true 2020-06-12T23:07:16Z 2020-07-28T02:34:01Z 0 0 0 3588 CDBP03587 EH domain-containing protein 2 Q9NZN4 EHD2_HUMAN false false Metal Binding Homo_sapiens EHD2 543 61160.9 6.42 Involved in GTPase activity Plays a role in membrane reorganization in response to nucleotide hydrolysis. Binds to liposomes and deforms them into tubules. Plays a role in membrane trafficking between the plasma membrane and endosomes. Important for the internalization of GLUT4. Required for normal fusion of myoblasts to skeletal muscle myotubes. Binds ATP; does not bind GTP ["None"] ["None"] AF181263 7212807 EHD2 Chromosome:1 19q13.3 EHD2 HGNC:3243 true 2020-06-12T23:07:16Z 2020-07-28T02:32:04Z 0 1 0 3589 CDBP03588 Translation initiation factor eIF-2B subunit alpha Q14232 EI2BA_HUMAN false false Enzyme Homo_sapiens EIF2B1 305 33711.8 7.4 Involved in cellular metabolic process Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP ["None"] ["None"] NM_001414.3 4503503 EIF2B1 Chromosome:1 12q24.31 EIF2B1 HGNC:3257 true 2020-06-12T23:07:16Z 2020-07-28T02:34:01Z 0 0 0 3590 CDBP03589 Translation initiation factor eIF-2B subunit beta P49770 EI2BB_HUMAN false false Enzyme Homo_sapiens EIF2B2 351 38989.3 6.12 Involved in cellular metabolic process Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP ["None"] ["None"] AC006530 4809338 EIF2B2 Chromosome:1 14q24.3 EIF2B2 HGNC:3258 true 2020-06-12T23:07:16Z 2020-07-28T02:34:01Z 0 0 0 3591 CDBP03590 Translation initiation factor eIF-2B subunit delta Q9UI10 EI2BD_HUMAN false false Enzyme Homo_sapiens EIF2B4 523 57556.7 9.87 Involved in cellular metabolic process Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP ["None"] ["None"] AF112207 6563202 EIF2B4 Chromosome:2 2p23.3 EIF2B4 HGNC:3260 true 2020-06-12T23:07:16Z 2020-07-28T02:34:01Z 0 0 0 3592 CDBP03591 Translation initiation factor eIF-2B subunit epsilon Q13144 EI2BE_HUMAN false false Enzyme Homo_sapiens EIF2B5 721 80379.2 4.72 Involved in binding Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP ["None"] ["None"] NM_003907.2 83267879 EIF2B5 Chromosome:3 3q27.1 EIF2B5 HGNC:3261 true 2020-06-12T23:07:16Z 2020-07-28T02:34:01Z 0 0 0 3593 CDBP03592 Translation initiation factor eIF-2B subunit gamma Q9NR50 EI2BG_HUMAN false false Enzyme Homo_sapiens EIF2B3 452 50239.8 6.41 Involved in nucleotidyltransferase activity Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP ["None"] ["None"] AF257077 9651997 EIF2B3 Chromosome:1 1p34.1 EIF2B3 HGNC:3259 true 2020-06-12T23:07:16Z 2020-07-28T02:34:01Z 0 0 0 3594 CDBP03593 Eukaryotic translation initiation factor 2A Q9BY44 EIF2A_HUMAN false false Enzyme Homo_sapiens EIF2A 585 64989.7 9.22 Involved in ribosome binding Functions in the early steps of protein synthesis of a small number of specific mRNAs. Acts by directing the binding of methionyl-tRNAi to 40S ribosomal subunits. In contrast to the eIF- 2 complex, it binds methionyl-tRNAi to 40 S subunits in a codon- dependent manner, whereas the eIF-2 complex binds methionyl-tRNAi to 40 S subunits in a GTP-dependent manner. May act by impiging the expression of specific proteins ["None"] ["None"] NM_032025.3 54873624 EIF2A Chromosome:3 3q25.1 EIF2A HGNC:3254 true 2020-06-12T23:07:16Z 2020-07-28T02:34:01Z 0 0 0 3595 CDBP03594 GTP-binding protein era homolog O75616 ERAL_HUMAN false false Enzyme Homo_sapiens ERAL1 437 48349.7 9.12 Involved in RNA binding ["None"] ["None"] AB049388 14211570 ERAL1 Chromosome:1 17q11.2 ERAL1 HGNC:3424 true 2020-06-12T23:07:16Z 2020-07-28T02:34:01Z 0 0 0 3596 CDBP03595 Eukaryotic peptide chain release factor subunit 1 P62495 ERF1_HUMAN true false Enzyme Homo_sapiens ETF1 437 49030.5 5.41 Involved in translation release factor activity, codon specific Directs the termination of nascent peptide synthesis (translation) in response to the termination codons UAA, UAG and UGA ["None"] ["None"] 1DT9 AF095901 5499721 ETF1 Chromosome:5 5q31.1 ETF1 HGNC:3477 true 2020-06-12T23:07:16Z 2020-07-28T02:28:56Z 0 0 0 3597 CDBP03596 Eukaryotic peptide chain release factor GTP-binding subunit ERF3A P15170 ERF3A_HUMAN true false Enzyme Homo_sapiens GSPT1 499 55755.6 5.34 Involved in GTPase activity Involved in translation termination in response to the termination codons UAA, UAG and UGA. Stimulates the activity of ERF1. Involved in regulation of mammalian cell growth ["None"] ["None"] X17644 31921 GSPT1 Chromosome:1 16p13.1 GSPT1 HGNC:4621 true 2020-06-12T23:07:16Z 2020-07-28T02:28:56Z 0 0 0 3598 CDBP03597 Eukaryotic peptide chain release factor GTP-binding subunit ERF3B Q8IYD1 ERF3B_HUMAN true false Enzyme Homo_sapiens GSPT2 628 68882.7 5.11 Involved in GTPase activity Involved in translation termination in response to the termination codons UAA, UAG and UGA. May play a role as a potent stimulator of the release factor activity of ETF1. Exhibits GTPase activity, which is ribosome- and ETF1-dependent. May play a role in cell cycle progression ["None"] ["None"] AJ251548 7799910 GSPT2 GSPT2 HGNC:4622 true 2020-06-12T23:07:16Z 2020-07-28T02:28:57Z 0 0 0 3599 CDBP03598 Elongation factor Tu GTP-binding domain-containing protein 1 Q7Z2Z2 ETUD1_HUMAN false false Enzyme Homo_sapiens EFTUD1 1120 125428.7 5.72 Involved in GTPase activity ["None"] ["None"] NM_024580.5 94966754 EFTUD1 Chromosome:1 15q25.2 EFTUD1 HGNC:25789 true 2020-06-12T23:07:16Z 2020-07-28T02:34:02Z 0 0 0 3600 CDBP03599 Exocyst complex component 2 Q96KP1 EXOC2_HUMAN false false Enzyme Homo_sapiens EXOC2 924 104065.3 6.89 Involved in exocytosis Component of the exocyst complex involved in the docking of exocystic vesicles with fusion sites on the plasma membrane ["None"] ["None"] 1UAD AJ414403 15982242 EXOC2 Chromosome:6 6p25.3 EXOC2 HGNC:24968 true 2020-06-12T23:07:16Z 2020-07-28T02:34:02Z 0 0 0 3601 CDBP03600 Exocyst complex component 7 Q9UPT5 EXOC7_HUMAN false false Enzyme Homo_sapiens EXOC7 735 83381.2 6.77 Involved in exocytosis Component of the exocyst complex involved in the docking of exocystic vesicles with fusion sites on the plasma membrane. In adipocytes, plays a crucial role in targeting SLC2A4 vesicle to the plasma membrane in response to insulin, perhaps directing the vesicle to the precise site of fusion ["None"] ["None"] NM_001145297.2 223718046 EXOC7 Chromosome:1 17q25.1 EXOC7 HGNC:23214 true 2020-06-12T23:07:16Z 2020-07-28T02:34:02Z 0 0 0 3602 CDBP03601 Exocyst complex component 8 Q8IYI6 EXOC8_HUMAN false false Enzyme Homo_sapiens EXOC8 725 81798.4 5.17 Involved in protein binding Component of the exocyst complex involved in the docking of exocystic vesicles with fusion sites on the plasma membrane ["None"] ["None"] AK096460 193788401 EXOC8 Chromosome:1 1q42.2 EXOC8 HGNC:24659 true 2020-06-12T23:07:16Z 2020-07-28T02:34:02Z 0 0 0 3603 CDBP03602 Formin-binding protein 1-like Q5T0N5 FBP1L_HUMAN false false Enzyme Homo_sapiens FNBP1L 605 69977.0 6.52 Involved in lipid binding Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during endocytosis. May bind to lipids such as phosphatidylinositol 4,5-bisphosphate and phosphatidylserine and promote membrane invagination and the formation of tubules. Also promotes CDC42-induced actin polymerization by activating the WASL/N-WASP-WASPIP/WIP complex, the predominant form of WASL/N-WASP in cells. Actin polymerization may promote the fission of membrane tubules to form endocytic vesicles ["None"] ["None"] NM_001164473.2 256600192 FNBP1L Chromosome:1 1p22.1 FNBP1L HGNC:20851 true 2020-06-12T23:07:16Z 2020-07-28T02:34:02Z 0 0 0 3604 CDBP03603 F-box only protein 8 Q9NRD0 FBX8_HUMAN false false Enzyme Homo_sapiens FBXO8 319 37068.0 7.78 Involved in ARF guanyl-nucleotide exchange factor activity May promote guanine-nucleotide exchange on an ARF. Promotes the activation of ARF through replacement of GDP with GTP (Potential) ["None"] ["None"] NM_012180.2 48928044 FBXO8 Chromosome:4 4q34.1 FBXO8 HGNC:13587 true 2020-06-12T23:07:16Z 2020-07-28T02:34:02Z 0 0 0 3605 CDBP03604 FYVE, RhoGEF and PH domain-containing protein 1 P98174 FGD1_HUMAN false false Metal Binding Homo_sapiens FGD1 961 106559.9 6.56 Involved in Rho guanyl-nucleotide exchange factor activity Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape ["None"] ["None"] BC034530 21961608 FGD1 FGD1 HGNC:3663 true 2020-06-12T23:07:16Z 2020-07-28T02:32:04Z 0 1 0 3606 CDBP03605 FYVE, RhoGEF and PH domain-containing protein 2 Q7Z6J4 FGD2_HUMAN false false Metal Binding Homo_sapiens FGD2 655 74891.7 6.93 Involved in Rho guanyl-nucleotide exchange factor activity Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Activates JNK1 via CDC42 but not RAC1. Binds to phosphatidylinositol 4,5- bisphosphate, phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 5-monophosphate, phosphatidylinositol 4- monophosphate and phosphatidylinositol 3-monophosphate ["None"] ["None"] NM_173558.3 189217917 FGD2 Chromosome:6 6p21.2 FGD2 HGNC:3664 true 2020-06-12T23:07:16Z 2020-07-28T02:32:04Z 0 1 0 3607 CDBP03606 FYVE, RhoGEF and PH domain-containing protein 3 Q5JSP0 FGD3_HUMAN false false Metal Binding Homo_sapiens FGD3 725 79400.1 6.08 Involved in Rho guanyl-nucleotide exchange factor activity Promotes the formation of filopodia. May activate CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape ["None"] ["None"] AL389924 57209237 FGD3 FGD3 HGNC:16027 true 2020-06-12T23:07:16Z 2020-07-28T02:32:04Z 0 1 0 3608 CDBP03607 FYVE, RhoGEF and PH domain-containing protein 4 Q96M96 FGD4_HUMAN false false Metal Binding Homo_sapiens FGD4 766 86625.6 6.03 Involved in Rho guanyl-nucleotide exchange factor activity Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape. Activates MAPK8 ["None"] ["None"] AK057294 16552927 FGD4 Chromosome:1 12p11.21 FGD4 HGNC:19125 true 2020-06-12T23:07:16Z 2020-07-28T02:32:04Z 0 1 0 3609 CDBP03608 FYVE, RhoGEF and PH domain-containing protein 5 Q6ZNL6 FGD5_HUMAN false false Metal Binding Homo_sapiens FGD5 1462 159889.4 4.66 Involved in Rho guanyl-nucleotide exchange factor activity May activate CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. May play a role in regulating the actin cytoskeleton and cell shape ["None"] ["None"] NM_152536.3 194018497 FGD5 Chromosome:3 3p25.1 FGD5 HGNC:19117 true 2020-06-12T23:07:16Z 2020-07-28T02:32:04Z 0 1 0 3610 CDBP03609 FYVE, RhoGEF and PH domain-containing protein 6 Q6ZV73 FGD6_HUMAN false false Metal Binding Homo_sapiens FGD6 1430 160814.9 7.03 Involved in Rho guanyl-nucleotide exchange factor activity May activate CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. May play a role in regulating the actin cytoskeleton and cell shape ["None"] ["None"] NM_018351.3 154240686 FGD6 Chromosome:1 12q22 FGD6 HGNC:21740 true 2020-06-12T23:07:16Z 2020-07-28T02:32:04Z 0 1 0 3611 CDBP03610 Formin-binding protein 1 Q96RU3 FNBP1_HUMAN false false Enzyme Homo_sapiens FNBP1 617 71306.3 5.44 Involved in identical protein binding May act as a link between RND2 signaling and regulation of the actin cytoskeleton. Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during endocytosis. Binds to lipids such as phosphatidylinositol 4,5-bisphosphate and phosphatidylserine and promotes membrane invagination and the formation of tubules. Also enhances actin polymerization via the recruitment of WASL/N-WASP, which in turn activates the Arp2/3 complex. Actin polymerization may promote the fission of membrane tubules to form endocytic vesicles. May be required for the lysosomal retention of FASLG/FASL ["None"] ["None"] NM_015033.2 38524622 FNBP1 Chromosome:9 9q34 FNBP1 HGNC:17069 true 2020-06-12T23:07:16Z 2020-07-28T02:34:02Z 0 0 0 3612 CDBP03611 GTPase-activating protein and VPS9 domain-containing protein 1 Q14C86 GAPD1_HUMAN true false Enzyme Homo_sapiens GAPVD1 1478 164978.1 4.86 Involved in GTPase activator activity Acts both as a GTPase-activating protein (GAP) and a guanine nucleotide exchange factor (GEF), and participates in various processes such as endocytosis, insulin receptor internalization or LC2A4/GLUT4 trafficking. Acts as a GEF for the Ras-related protein RAB31 by exchanging bound GDP for free GTP, leading to regulate LC2A4/GLUT4 trafficking. In the absence of insulin, it maintains RAB31 in an active state and promotes a futile cycle between LC2A4/GLUT4 storage vesicles and early endosomes, retaining LC2A4/GLUT4 inside the cells. Upon insulin stimulation, it is translocated to the plasma membrane, releasing LC2A4/GLUT4 from intracellular storage vesicles. Also involved in EGFR trafficking and degradation, possibly by promoting EGFR ubiquitination and subsequent degradation by the proteasome. Has GEF activity for Rab5 and GAP activity for Ras ["None"] ["None"] 51093832 GAPVD1 Chromosome:9 9q33.3 GAPVD1 HGNC:23375 true 2020-06-12T23:07:16Z 2020-07-28T02:28:57Z 0 0 0 3613 CDBP03612 Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 P62873 GBB1_HUMAN false false Enzyme Homo_sapiens GNB1 340 37376.6 5.85 Involved in GTPase activity Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction ["None"] ["None"] 1OMW X04526 31669 GNB1 Chromosome:1 1p36.33 GNB1 HGNC:4396 true 2020-06-12T23:07:16Z 2020-07-28T02:34:02Z 0 0 0 3614 CDBP03613 Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-2 P62879 GBB2_HUMAN false false Enzyme Homo_sapiens GNB2 340 37330.6 5.85 Involved in GTPase activity Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction ["None"] ["None"] AF053356 3135310 GNB2 Chromosome:7 7q21.3-q22.1|7q22 GNB2 HGNC:4398 true 2020-06-12T23:07:16Z 2020-07-28T02:34:02Z 0 0 0 3615 CDBP03614 Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 P16520 GBB3_HUMAN false false Enzyme Homo_sapiens GNB3 340 37220.8 5.38 Involved in GTPase activity Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction ["None"] ["None"] AF501884 20257502 GNB3 Chromosome:1 12p13 GNB3 HGNC:4400 true 2020-06-12T23:07:16Z 2020-07-28T02:34:02Z 0 0 0 3616 CDBP03615 Guanine nucleotide-binding protein subunit beta-4 Q9HAV0 GBB4_HUMAN false false Enzyme Homo_sapiens GNB4 340 37566.8 5.85 Involved in signal transducer activity Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction ["None"] ["None"] 1OMW AF501886 20257506 GNB4 Chromosome:3 3q26.33 GNB4 HGNC:20731 true 2020-06-12T23:07:16Z 2020-07-28T02:34:02Z 0 0 0 3617 CDBP03616 Guanine nucleotide-binding protein subunit beta-5 O14775 GBB5_HUMAN false false Enzyme Homo_sapiens GNB5 395 43565.9 6.42 Involved in GTPase activity Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction ["None"] ["None"] NM_016194.3 20336270 GNB5 Chromosome:1 15q21.2 GNB5 HGNC:4401 true 2020-06-12T23:07:16Z 2020-07-28T02:34:02Z 0 0 0 3618 CDBP03617 Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 Q92538 GBF1_HUMAN false false Enzyme Homo_sapiens GBF1 1859 206443.8 5.5 Involved in ARF guanyl-nucleotide exchange factor activity Promotes guanine-nucleotide exchange on ARF5. Promotes the activation of ARF5 through replacement of GDP with GTP ["None"] ["None"] AF068755 4321980 GBF1 Chromosome:1 10q24 GBF1 HGNC:4181 true 2020-06-12T23:07:16Z 2020-07-28T02:34:02Z 0 0 0 3619 CDBP03618 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-10 P50151 GBG10_HUMAN false false Receptor Homo_sapiens GNG10 68 7205.2 8.04 Involved in signal transducer activity Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction. Interacts with beta-1 and beta-2, but not with beta-3 ["None"] ["None"] AF493877 20147647 GNG10 Chromosome:9 9q31.3 GNG10 HGNC:4402 true 2020-06-12T23:07:16Z 2020-07-28T02:32:20Z 1 0 0 3620 CDBP03619 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12 Q9UBI6 GBG12_HUMAN false false Receptor Homo_sapiens GNG12 72 8006.1 9.38 Involved in signal transducer activity Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction ["None"] ["None"] AF119663 6563252 GNG12 Chromosome:1 1p31.3 GNG12 HGNC:19663 true 2020-06-12T23:07:16Z 2020-07-28T02:32:20Z 1 0 0 3621 CDBP03620 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-13 Q9P2W3 GBG13_HUMAN false false Receptor Homo_sapiens GNG13 67 7949.3 4.76 Involved in signal transducer activity Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction ["None"] ["None"] AB030207 7259306 GNG13 Chromosome:1 16p13.3 GNG13 HGNC:14131 true 2020-06-12T23:07:16Z 2020-07-28T02:32:20Z 1 0 0 3622 CDBP03621 Guanine nucleotide-binding protein G(T) subunit gamma-T1 P63211 GBG1_HUMAN false false Receptor Homo_sapiens GNGT1 74 8495.8 4.47 Involved in signal transducer activity Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction ["None"] ["None"] 1B9Y AC002076 41393496 GNGT1 Chromosome:7 7q21.3 GNGT1 HGNC:4411 true 2020-06-12T23:07:16Z 2020-07-28T02:32:20Z 1 0 0 3623 CDBP03622 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-3 P63215 GBG3_HUMAN false false Receptor Homo_sapiens GNG3 75 8304.7 7.93 Involved in signal transducer activity Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction ["None"] ["None"] AF087900 33150642 GNG3 Chromosome:1 11p11 GNG3 HGNC:4405 true 2020-06-12T23:07:16Z 2020-07-28T02:32:20Z 1 0 0 3624 CDBP03623 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-4 P50150 GBG4_HUMAN false false Receptor Homo_sapiens GNG4 75 8388.6 7.19 Involved in signal transducer activity Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction ["None"] ["None"] AF493872 20147637 GNG4 Chromosome:1 1q42.3 GNG4 HGNC:4407 true 2020-06-12T23:07:16Z 2020-07-28T02:32:20Z 1 0 0 3625 CDBP03624 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-5 P63218 GBG5_HUMAN false false Receptor Homo_sapiens GNG5 68 7318.4 10.62 Involved in signal transducer activity Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction ["None"] ["None"] AF038955 3329380 GNG5 Chromosome:1 1p22 GNG5 HGNC:4408 true 2020-06-12T23:07:16Z 2020-07-28T02:32:20Z 1 0 0 3626 CDBP03625 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-7 O60262 GBG7_HUMAN false false Receptor Homo_sapiens GNG7 68 7521.7 8.77 Involved in signal transducer activity Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction. Plays a role in the regulation of adenylyl cyclase signaling in certain regions of the brain. Plays a role in the formation or stabilzation of a G protein heterotrimer (G(olf) subunit alpha-beta-gamma-7) that is required for adenylyl cyclase activity in the striatum ["None"] ["None"] AB010414 3149954 GNG7 Chromosome:1 19p13.3 GNG7 HGNC:4410 true 2020-06-12T23:07:16Z 2020-07-28T02:32:20Z 1 0 0 3627 CDBP03626 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-8 Q9UK08 GBG8_HUMAN false false Receptor Homo_sapiens GNG8 70 7841.1 7.27 Involved in signal transducer activity Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction ["None"] ["None"] AF188179 6164867 GNG8 Chromosome:1 19q13.32 GNG8 HGNC:19664 true 2020-06-12T23:07:16Z 2020-07-28T02:32:20Z 1 0 0 3628 CDBP03627 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2 O14610 GBGT2_HUMAN false false Receptor Homo_sapiens GNGT2 69 7746.9 6.73 Involved in signal transducer activity Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction ["None"] ["None"] AF001160 2392823 GNGT2 Chromosome:1 17q21 GNGT2 HGNC:4412 true 2020-06-12T23:07:16Z 2020-07-28T02:32:20Z 1 0 0 3629 CDBP03628 Interferon-induced guanylate-binding protein 1 P32455 GBP1_HUMAN false false Enzyme Homo_sapiens GBP1 592 67902.2 6.23 Involved in GTPase activity Binds GTP, GDP and GMP ["None"] ["None"] 1F5N AK291783 158256998 GBP1 Chromosome:1 1p22.2 GBP1 HGNC:4182 true 2020-06-12T23:07:16Z 2020-07-28T02:34:02Z 0 0 0 3630 CDBP03629 Interferon-induced guanylate-binding protein 2 P32456 GBP2_HUMAN false false Enzyme Homo_sapiens GBP2 591 67208.5 5.41 Involved in GTPase activity Binds GTP, GDP and GMP. Hydrolyzes GTP very efficiently; GDP rather than GMP is the major reaction product ["None"] ["None"] NM_004120.3 38327558 GBP2 Chromosome:1 1p22.2 GBP2 HGNC:4183 true 2020-06-12T23:07:16Z 2020-07-28T02:34:02Z 0 0 0 3631 CDBP03630 Guanylate-binding protein 3 Q9H0R5 GBP3_HUMAN false false Enzyme Homo_sapiens GBP3 595 68113.6 6.46 Involved in GTPase activity Binds GTP, GDP and GMP ["None"] ["27-47", "114-134"] NM_018284.2 112382372 GBP3 Chromosome:1 1p22.2 GBP3 HGNC:4184 true 2020-06-12T23:07:16Z 2020-07-28T02:34:02Z 0 0 0 3632 CDBP03631 Guanylate-binding protein 4 Q96PP9 GBP4_HUMAN false false Enzyme Homo_sapiens GBP4 640 73164.2 5.89 Involved in GTPase activity Binds GTP, GDP and GMP. Hydrolyzes GTP very efficiently; GDP rather than GMP is the major reaction product. Plays a role in erythroid differentiation ["None"] ["None"] AF288814 15558943 GBP4 Chromosome:1 1p22.2 GBP4 HGNC:20480 true 2020-06-12T23:07:16Z 2020-07-28T02:34:02Z 0 0 0 3633 CDBP03632 Guanylate-binding protein 6 Q6ZN66 GBP6_HUMAN false false Enzyme Homo_sapiens GBP6 633 72426.3 6.32 Involved in GTPase activity Binds GTP, GDP and GMP ["None"] ["None"] NM_198460.2 157671915 GBP6 Chromosome:1 1p22.2 GBP6 HGNC:25395 true 2020-06-12T23:07:16Z 2020-07-28T02:34:02Z 0 0 0 3634 CDBP03633 Guanylate-binding protein 7 Q8N8V2 GBP7_HUMAN false false Enzyme Homo_sapiens GBP7 638 72524.7 5.84 Involved in GTPase activity Binds GTP, GDP and GMP ["None"] ["27-47", "114-134"] NM_207398.2 148234215 GBP7 Chromosome:1 1p22.2 GBP7 HGNC:29606 true 2020-06-12T23:07:16Z 2020-07-28T02:34:02Z 0 0 0 3635 CDBP03634 ADP-ribosylation factor-binding protein GGA1 Q9UJY5 GGA1_HUMAN false false Enzyme Homo_sapiens GGA1 639 70383.5 4.93 Involved in protein binding Plays a role in protein sorting and trafficking between the trans-Golgi network (TGN) and endosomes. Mediates the ARF- dependent recruitment of clathrin to the TGN and binds ubiquitinated proteins and membrane cargo molecules with a cytosolic acidic cluster-dileucine (AC-LL) motif ["None"] ["None"] 1OXZ AF190862 6179912 GGA1 Chromosome:2 22q13.31 GGA1 HGNC:17842 true 2020-06-12T23:07:16Z 2020-07-28T02:34:02Z 0 0 0 3636 CDBP03635 ADP-ribosylation factor-binding protein GGA2 Q9UJY4 GGA2_HUMAN false false Enzyme Homo_sapiens GGA2 613 67149.7 6.52 Involved in protein binding Plays a role in protein sorting and trafficking between the trans-Golgi network (TGN) and endosomes. Mediates the ARF- dependent recruitment of clathrin to the TGN and binds ubiquitinated proteins and membrane cargo molecules with a cytosolic acidic cluster-dileucine (AC-LL) motif ["None"] ["None"] 1MHQ NM_015044.4 9558751 GGA2 Chromosome:1 16p12 GGA2 HGNC:16064 true 2020-06-12T23:07:16Z 2020-07-28T02:34:02Z 0 0 0 3637 CDBP03636 ADP-ribosylation factor-binding protein GGA3 Q9NZ52 GGA3_HUMAN false false Enzyme Homo_sapiens GGA3 723 78314.5 5.27 Involved in protein binding Plays a role in protein sorting and trafficking between the trans-Golgi network (TGN) and endosomes. Mediates the ARF- dependent recruitment of clathrin to the TGN and binds ubiquitinated proteins and membrane cargo molecules with a cytosolic acidic cluster-dileucine (AC-LL) motif ["None"] ["None"] 1LF8 NM_138619.2 20336267 GGA3 Chromosome:1 17q25.1 GGA3 HGNC:17079 true 2020-06-12T23:07:16Z 2020-07-28T02:34:02Z 0 0 0 3638 CDBP03637 GTPase IMAP family member 1 Q8WWP7 GIMA1_HUMAN true false Enzyme Homo_sapiens GIMAP1 306 34368.9 9.06 Involved in GTP binding ["None"] ["273-292"] AJ306287 18477214 GIMAP1 Chromosome:7 7q36.1 GIMAP1 HGNC:23237 true 2020-06-12T23:07:16Z 2020-07-28T02:28:58Z 0 0 0 3639 CDBP03638 GTPase IMAP family member 2 Q9UG22 GIMA2_HUMAN true false Enzyme Homo_sapiens GIMAP2 337 38016.9 8.3 Involved in GTP binding ["None"] ["271-291", "297-317"] AL110151 57997028 GIMAP2 Chromosome:7 7q36.1 GIMAP2 HGNC:21789 true 2020-06-12T23:07:16Z 2020-07-28T02:28:58Z 0 0 0 3640 CDBP03639 GTPase IMAP family member 4 Q9NUV9 GIMA4_HUMAN true false Enzyme Homo_sapiens GIMAP4 329 37533.5 7.97 Involved in GTP binding Exhibits intrisinic GTPase activity. Shows a higher affinity for GDP over GTP (about 12-fold higher), and binding shows an absolute requirement for magnesium ["None"] ["None"] AF117333 27462082 GIMAP4 Chromosome:7 7q36.1 GIMAP4 HGNC:21872 true 2020-06-12T23:07:16Z 2020-07-28T02:28:58Z 0 0 0 3641 CDBP03640 GTPase IMAP family member 5 Q96F15 GIMA5_HUMAN true false Enzyme Homo_sapiens GIMAP5 307 34845.7 7.76 Involved in GTP binding Required for mitochondrial integrity and T-cell survival. May contribute to T-cell quiescence ["None"] ["285-305"] AK002158 7023868 GIMAP5 Chromosome:7 7q36.1 GIMAP5 HGNC:18005 true 2020-06-12T23:07:16Z 2020-07-28T02:28:58Z 0 0 0 3642 CDBP03641 GTPase IMAP family member 6 Q6P9H5 GIMA6_HUMAN true false Enzyme Homo_sapiens GIMAP6 292 32948.6 4.56 Involved in GTP binding ["None"] ["None"] NM_024711.4 56119214 GIMAP6 GIMAP6 HGNC:21918 true 2020-06-12T23:07:16Z 2020-07-28T02:28:58Z 0 0 0 3643 CDBP03642 GTPase IMAP family member 7 Q8NHV1 GIMA7_HUMAN true false Enzyme Homo_sapiens GIMAP7 300 34508.2 6.39 Involved in GTP binding ["None"] ["None"] BC027613 20379665 GIMAP7 Chromosome:7 7q36.1 GIMAP7 HGNC:22404 true 2020-06-12T23:07:16Z 2020-07-28T02:28:58Z 0 0 0 3644 CDBP03643 GTPase IMAP family member 8 Q8ND71 GIMA8_HUMAN true false Enzyme Homo_sapiens GIMAP8 665 74889.6 8.47 Involved in GTP binding Exerts an anti-apoptotic effect in the immune system and is involved in responses to infections ["None"] ["None"] AJ633686 77680753 GIMAP8 Chromosome:7 7q36.1 GIMAP8 HGNC:21792 true 2020-06-12T23:07:16Z 2020-07-28T02:28:58Z 0 0 0 3645 CDBP03644 Ral guanine nucleotide dissociation stimulator Q12967 GNDS_HUMAN false false Enzyme Homo_sapiens RALGDS 914 100605.7 5.45 Involved in signal transduction Stimulates the dissociation of GDP from the Ras-related RalA and RalB GTPases which allows GTP binding and activation of the GTPases. Interacts and acts as an effector molecule for R-Ras, H-Ras, K-Ras, and Rap ["None"] ["None"] 1RAX NM_006266.2 24307909 RALGDS Chromosome:9 9q34.3 RALGDS HGNC:9842 true 2020-06-12T23:07:16Z 2020-07-28T02:34:02Z 0 0 0 3646 CDBP03645 Guanine nucleotide-binding protein-like 1 P36915 GNL1_HUMAN false false Enzyme Homo_sapiens GNL1 607 68660.3 5.58 Involved in GTP binding Possible regulatory or functional link with the histocompatibility cluster ["None"] ["None"] AL662800 55961299 GNL1 Chromosome:6 6p21.3 GNL1 HGNC:4413 true 2020-06-12T23:07:16Z 2020-07-28T02:34:02Z 0 0 0 3647 CDBP03646 Guanine nucleotide-binding protein-like 3 Q9BVP2 GNL3_HUMAN false false Enzyme Homo_sapiens GNL3 549 61992.7 9.75 Involved in GTP binding May be required to maintain the proliferative capacity of stem cells and may play an important role in tumorigenesis ["None"] ["None"] NM_014366.4 45593130 GNL3 Chromosome:3 3p21.1 GNL3 HGNC:29931 true 2020-06-12T23:07:16Z 2020-07-28T02:34:02Z 0 0 0 3648 CDBP03647 Guanine nucleotide-binding protein-like 3-like protein Q9NVN8 GNL3L_HUMAN false false Enzyme Homo_sapiens GNL3L 582 65572.7 8.62 Involved in GTP binding Required for normal processing of ribosomal pre-rRNA. Required for cell proliferation. Binds GTP ["None"] ["None"] AK001475 7022755 GNL3L GNL3L HGNC:25553 true 2020-06-12T23:07:16Z 2020-07-28T02:34:02Z 0 0 0 3649 CDBP03648 Golgin-45 Q9H2G9 GO45_HUMAN false false Enzyme Homo_sapiens BLZF1 400 44909.9 8.79 Involved in transcription factor activity Required for normal Golgi structure and for protein transport from the endoplasmic reticulum (ER) through the Golgi apparatus to the cell surface ["None"] ["None"] AF272386 11545323 BLZF1 Chromosome:1 1q24 BLZF1 HGNC:1065 true 2020-06-12T23:07:16Z 2020-07-28T02:34:02Z 0 0 0 3650 CDBP03649 Golgin subfamily A member 2 Q08379 GOGA2_HUMAN false false Enzyme Homo_sapiens GOLGA2 1002 113085.5 4.7 Replication, recombination and repair Golgi auto-antigen; probably involved in maintaining cis-Golgi structure ["None"] ["None"] NM_004486.4 194097392 GOLGA2 Chromosome:9 9q34.11 GOLGA2 HGNC:4425 true 2020-06-12T23:07:16Z 2020-07-28T02:34:02Z 0 0 0 3651 CDBP03650 Golgin subfamily A member 5 Q8TBA6 GOGA5_HUMAN false false Enzyme Homo_sapiens GOLGA5 731 83023.7 5.62 Replication, recombination and repair Involved in maintaining Golgi structure. Stimulates the formation of Golgi stacks and ribbons. Involved in intra-Golgi retrograde transport ["None"] ["699-719"] AF085199 4191344 GOLGA5 Chromosome:1 14q GOLGA5 HGNC:4428 true 2020-06-12T23:07:16Z 2020-07-28T02:34:02Z 0 0 0 3652 CDBP03651 RAS guanyl-releasing protein 4 Q8TDF6 GRP4_HUMAN false false Enzyme Homo_sapiens RASGRP4 673 74881.7 8.06 Involved in intracellular signaling pathway Functions as a cation- and diacylglycerol (DAG)- regulated nucleotide exchange factor activating Ras through the exchange of bound GDP for GTP. May function in mast cells differentiation ["None"] ["None"] NM_170604.2 26051258 RASGRP4 Chromosome:1 19q13.1 RASGRP4 HGNC:18958 true 2020-06-12T23:07:16Z 2020-07-28T02:34:02Z 0 0 0 3653 CDBP03652 GTP-binding protein 1 O00178 GTPB1_HUMAN false false Enzyme Homo_sapiens GTPBP1 669 72453.3 8.47 Involved in GTPase activity ["None"] ["None"] AL021707 123228951 GTPBP1 Chromosome:2 22q13.1 GTPBP1 HGNC:4669 true 2020-06-12T23:07:16Z 2020-07-28T02:34:02Z 0 0 0 3654 CDBP03653 GTP-binding protein 2 Q9BX10 GTPB2_HUMAN false false Enzyme Homo_sapiens GTPBP2 602 65768.0 8.13 Involved in GTPase activity ["None"] ["None"] NM_019096.3 45593140 GTPBP2 Chromosome:6 6p21 GTPBP2 HGNC:4670 true 2020-06-12T23:07:16Z 2020-07-28T02:34:02Z 0 0 0 3655 CDBP03654 tRNA modification GTPase GTPBP3, mitochondrial Q969Y2 GTPB3_HUMAN true false Enzyme Homo_sapiens GTPBP3 492 52029.5 6.46 Involved in GTP binding GTPase involved in the 5-carboxymethylaminomethyl modification (mnm(5)s(2)U34) of the wobble uridine base in mitochondrial tRNAs (Probable) ["None"] ["None"] NM_032620.3 193082991 GTPBP3 Chromosome:1 19p13.11 GTPBP3 HGNC:14880 true 2020-06-12T23:07:16Z 2020-07-28T02:28:59Z 0 0 0 3656 CDBP03655 GTP-binding protein 5 Q9H4K7 GTPB5_HUMAN false false Metal Binding Homo_sapiens GTPBP5 406 43955.1 9.89 Involved in magnesium ion binding Involved in the ribosome maturation process. Plays a role of GTPase in vitro. When missing, mitochondria elongation and abnormal nuclear morphology are observed ["None"] ["None"] NM_015666.3 24308117 GTPBP5 Chromosome:2 20q13.33 GTPBP5 HGNC:16239 true 2020-06-12T23:07:16Z 2020-07-28T02:32:04Z 0 1 0 3657 CDBP03656 Putative GTP-binding protein 6 O43824 GTPB6_HUMAN false false Enzyme Homo_sapiens GTPBP6 516 56882.9 9.97 Involved in GTP binding ["None"] ["None"] GTPBP6 GTPBP6 HGNC:30189 true 2020-06-12T23:07:16Z 2020-07-28T02:34:03Z 0 0 0 3658 CDBP03657 GTP-binding protein 10 A4D1E9 GTPBA_HUMAN false false Metal Binding Homo_sapiens GTPBP10 387 42932.6 9.55 Involved in magnesium ion binding May be involved in the ribosome maturation process. Complements an ObgE(CgtA) function in E.coli ribosome maturation. Plays a role of GTPase in vitro. When missing, disorganization of the nuceleolar architecture is observed ["None"] ["None"] NM_033107.2 111955139 GTPBP10 Chromosome:7 7q21.13 GTPBP10 HGNC:25106 true 2020-06-12T23:07:16Z 2020-07-28T02:32:04Z 0 1 0 3659 CDBP03658 Translation factor GUF1, mitochondrial Q8N442 GUF1_HUMAN false false Enzyme Homo_sapiens GUF1 669 74327.2 8.59 Involved in GTP binding Promotes mitochondrial protein synthesis. May act as a fidelity factor of the translation reaction, by catalyzing a one-codon backward translocation of tRNAs on improperly translocated ribosomes. Binds to mitochondrial ribosomes in a GTP-dependent manner (By similarity). AK023282 10435150 GUF1 4 4p12 GUF1 HGNC:25799 true hsa:60558 NP_068746.2:NM_021927.2 2020-06-12T23:07:16Z 2020-07-28T02:34:03Z 0 0 0 3660 CDBP03659 PTB domain-containing engulfment adapter protein 1 Q9UBP9 GULP1_HUMAN false false Enzyme Homo_sapiens GULP1 304 34490.2 8.0 Involved in signal transducer activity May function as an adapter protein. Required for efficient phagocytosis of apoptotic cells. Modulates cellular glycosphingolipid and cholesterol transport. May play a role in the internalization and endosomal trafficking of various LRP1 ligands, such as PSAP. Increases cellular levels of GTP-bound ARF6 ["None"] ["None"] NM_016315.2 7705318 GULP1 Chromosome:2 2q32.3-q33 GULP1 HGNC:18649 true 2020-06-12T23:07:16Z 2020-07-28T02:34:03Z 0 0 0 3661 CDBP03660 HBS1-like protein Q9Y450 HBS1L_HUMAN false false Enzyme Homo_sapiens HBS1L 684 75472.4 6.57 Involved in GTPase activity ["None"] ["None"] NM_006620.3 5729864 HBS1L Chromosome:6 6q23.3 HBS1L HGNC:4834 true 2020-06-12T23:07:16Z 2020-07-28T02:34:03Z 0 0 0 3662 CDBP03661 Probable E3 ubiquitin-protein ligase HERC1 Q15751 HERC1_HUMAN true false Enzyme Homo_sapiens HERC1 4861 532223.1 5.93 Involved in acid-amino acid ligase activity Involved in membrane trafficking via some guanine nucleotide exchange factor (GEF) activity and its ability to bind clathrin. Acts as a GEF for Arf and Rab, by exchanging bound GDP for free GTP. Binds phosphatidylinositol-4,5-bisphosphate, which is required for GEF activity. May also act as a E3 ubiquitin- protein ligase which accepts ubiquitin from an E2 ubiquitin- conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates ["None"] ["None"] NM_003922.3 126131099 HERC1 Chromosome:1 15q22 HERC1 HGNC:4867 true 2020-06-12T23:07:16Z 2020-07-28T02:28:59Z 0 0 0 3663 CDBP03662 Protein-cysteine N-palmitoyltransferase HHAT Q5VTY9 HHAT_HUMAN true false Enzyme Homo_sapiens HHAT 493 57312.6 7.3 Cell wall/membrane/envelope biogenesis Catalyzes N-terminal palmitoylation of SHH; which is required for SHH signaling. May bind GTP ["None"] ["5-25", "69-89", "95-115", "133-152", "200-220", "251-271", "290-310", "360-380", "429-449", "467-487"] AK001586 7022931 HHAT Chromosome:1 1q32 HHAT HGNC:18270 true 2020-06-12T23:07:16Z 2020-07-28T02:28:59Z 0 0 0 3664 CDBP03663 Eukaryotic translation initiation factor 2 subunit 2 P20042 IF2B_HUMAN false false Enzyme Homo_sapiens EIF2S2 333 38388.1 5.46 Involved in translation initiation factor activity eIF-2 functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA. This complex binds to a 40S ribosomal subunit, followed by mRNA binding to form a 43S preinitiation complex. Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF-2 and release of an eIF-2-GDP binary complex. In order for eIF-2 to recycle and catalyze another round of initiation, the GDP bound to eIF-2 must exchange with GTP by way of a reaction catalyzed by eIF-2B ["None"] ["None"] AL031668 4938295 EIF2S2 Chromosome:2 20pter-q12 EIF2S2 HGNC:3266 true 2020-06-12T23:07:16Z 2020-07-28T02:34:03Z 0 0 0 3665 CDBP03664 Eukaryotic translation initiation factor 2 subunit 3 P41091 IF2G_HUMAN false false Enzyme Homo_sapiens EIF2S3 472 51109.1 8.54 Involved in GTPase activity eIF-2 functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA. This complex binds to a 40S ribosomal subunit, followed by mRNA binding to form a 43S preinitiation complex. Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF-2 and release of an eIF-2-GDP binary complex. In order for eIF-2 to recycle and catalyze another round of initiation, the GDP bound to eIF-2 must exchange with GTP by way of a reaction catalyzed by eIF-2B ["None"] ["None"] L19161 EIF2S3 EIF2S3 HGNC:3267 true 2020-06-12T23:07:16Z 2020-07-28T02:34:03Z 0 0 0 3666 CDBP03665 Eukaryotic translation initiation factor 2 subunit 3-like protein Q2VIR3 IF2GL_HUMAN false false Enzyme Homo_sapiens EIF2S3L 472 51228.2 8.54 Involved in GTPase activity eIF-2 functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA. This complex binds to a 40S ribosomal subunit, followed by mRNA binding to form a 43S preinitiation complex. Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF-2 and release of an eIF-2-GDP binary complex. In order for eIF-2 to recycle and catalyze another round of initiation, the GDP bound to eIF-2 must exchange with GTP by way of a reaction catalyzed by eIF-2B ["None"] ["None"] NM_001415 4503507 EIF2S3L true 2020-06-12T23:07:16Z 2020-07-28T02:34:03Z 0 0 0 3667 CDBP03666 Translation initiation factor IF-2, mitochondrial P46199 IF2M_HUMAN false false Enzyme Homo_sapiens MTIF2 727 81316.8 7.16 Involved in GTPase activity One of the essential components for the initiation of protein synthesis. Protects formylmethionyl-tRNA from spontaneous hydrolysis and promotes its binding to the 30S ribosomal subunits. Also involved in the hydrolysis of GTP during the formation of the 70S ribosomal complex ["None"] ["None"] NM_001005369.1 53729339 MTIF2 Chromosome:2 2p16.1 MTIF2 HGNC:7441 true 2020-06-12T23:07:16Z 2020-07-28T02:34:03Z 0 0 0 3668 CDBP03667 Eukaryotic translation initiation factor 5 P55010 IF5_HUMAN false false Enzyme Homo_sapiens EIF5 431 49222.4 5.26 Involved in binding Catalyzes the hydrolysis of GTP bound to the 40S ribosomal initiation complex (40S.mRNA.Met-tRNA[F].eIF-2.GTP) with the subsequent joining of a 60S ribosomal subunit resulting in the release of eIF-2 and the guanine nucleotide. The subsequent joining of a 60S ribosomal subunit results in the formation of a functional 80S initiation complex (80S.mRNA.Met-tRNA[F]) ["None"] ["None"] AK026933 10439908 EIF5 Chromosome:1 14q32.32 EIF5 HGNC:3299 true 2020-06-12T23:07:16Z 2020-07-28T02:34:03Z 0 0 0 3669 CDBP03668 Interferon-inducible GTPase 5 Q6NXR0 IIGP5_HUMAN true false Enzyme Homo_sapiens IRGC 463 50287.62 5.354 Involved in GTP binding AC005622 3548787 IRGC 19 19q13.31 IRGC HGNC:28835 true hsa:56269 NP_062558.1:NM_019612.3 2020-06-12T23:07:16Z 2020-07-28T02:29:00Z 0 0 0 3670 CDBP03669 Importin subunit alpha-1 P52294 IMA1_HUMAN false true Transporter Homo_sapiens KPNA1 538 60221.2 4.65 Involved in binding Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non- classical NLS ["None"] ["None"] NM_002264.3 222144293 KPNA1 Chromosome:3 3q21 KPNA1 HGNC:6394 true 2020-06-12T23:07:16Z 2020-07-28T02:32:12Z 0 0 0 3671 CDBP03670 Importin subunit alpha-2 P52292 IMA2_HUMAN false true Transporter Homo_sapiens KPNA2 529 57861.4 5.05 Involved in binding Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus ["None"] ["None"] 1Q1T AJ303086 15865453 KPNA2 Chromosome:1 17q24.2 KPNA2 HGNC:6395 true 2020-06-12T23:07:16Z 2020-07-28T02:32:12Z 0 0 0 3672 CDBP03671 Importin subunit alpha-3 O00505 IMA3_HUMAN false true Transporter Homo_sapiens KPNA3 521 57810.4 4.55 Involved in binding Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non- classical NLS. Recognizes NLSs of influenza A virus nucleoprotein probably through ARM repeats 7-9 ["None"] ["None"] AF034756 2654139 KPNA3 Chromosome:1 13q14.3 KPNA3 HGNC:6396 true 2020-06-12T23:07:17Z 2020-07-28T02:32:12Z 0 0 0 3673 CDBP03672 Importin subunit alpha-4 O00629 IMA4_HUMAN false true Transporter Homo_sapiens KPNA4 521 57886.3 4.56 Involved in binding Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non- classical NLS. In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a nonclassical NLS ["None"] ["None"] AB002533 1944125 KPNA4 Chromosome:3 3q25.33 KPNA4 HGNC:6397 true 2020-06-12T23:07:17Z 2020-07-28T02:32:12Z 0 0 0 3674 CDBP03673 Importin subunit alpha-6 O15131 IMA5_HUMAN false true Transporter Homo_sapiens KPNA5 536 60348.4 4.8 Involved in binding Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Mediates nuclear import of STAT1 homodimers and STAT1/STAT2 heterodimers by recognizing non- classical NLSs of STAT1 and STAT2 through ARM repeats 8-9. Recognizes influenza A virus nucleoprotein through ARM repeat 7-9 In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non-classical NLS ["None"] ["None"] AF005361 2343116 KPNA5 Chromosome:6 6q22.1 KPNA5 HGNC:6398 true 2020-06-12T23:07:17Z 2020-07-28T02:32:12Z 0 0 0 3675 CDBP03674 Importin subunit alpha-7 O60684 IMA7_HUMAN false true Transporter Homo_sapiens KPNA6 536 60028.9 4.62 Involved in binding Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus ["None"] ["None"] AF060543 3091280 KPNA6 Chromosome:1 1p35.1 KPNA6 HGNC:6399 true 2020-06-12T23:07:17Z 2020-07-28T02:32:12Z 0 0 0 3676 CDBP03675 Importin subunit beta-1 Q14974 IMB1_HUMAN false true Transporter Homo_sapiens KPNB1 876 97169.2 4.41 Involved in binding Functions in nuclear protein import, either in association with an adapter protein, like an importin-alpha subunit, which binds to nuclear localization signals (NLS) in cargo substrates, or by acting as autonomous nuclear transport receptor. Acting autonomously, serves itself as NLS receptor. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re- exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Mediates autonomously the nuclear import of ribosomal proteins RPL23A, RPS7 and RPL5. Binds to a beta-like import receptor binding (BIB) domain of RPL23A. In association with IPO7 mediates the nuclear import of H1 histone. In vitro, mediates nuclear import of H2A, H2B, H3 and H4 histones. In case of HIV-1 infection, binds and mediates the nuclear import of HIV-1 Rev. Imports PRKCI into the nucleus ["None"] ["None"] 1QGR BC003572 13097744 KPNB1 Chromosome:1 17q21.32 KPNB1 HGNC:6400 true 2020-06-12T23:07:17Z 2020-07-28T02:32:12Z 0 0 0 3677 CDBP03676 Importin-11 Q9UI26 IPO11_HUMAN false true Transporter Homo_sapiens IPO11 975 112534.4 4.91 Involved in binding Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Mediates the nuclear import of UBE2E3, and of RPL12 ["None"] ["None"] NM_016338.4 39725950 IPO11 Chromosome:5 5q12.1 IPO11 HGNC:20628 true 2020-06-12T23:07:17Z 2020-07-28T02:32:12Z 0 0 0 3678 CDBP03677 Importin-13 O94829 IPO13_HUMAN false true Transporter Homo_sapiens IPO13 963 108194.1 4.95 Involved in binding Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Mediates the nuclear import of UBC9, the RBM8A/MAGOH complex, PAX6 and probably other members of the paired homeobox family. Also mediates nuclear export of eIF-1A, and the cytoplasmic release of eIF-1A is triggered by the loading of import substrates onto IPO13 ["None"] ["None"] NM_014652.3 224831257 IPO13 Chromosome:1 1p34.1 IPO13 HGNC:16853 true 2020-06-12T23:07:17Z 2020-07-28T02:32:12Z 0 0 0 3679 CDBP03678 Importin-4 Q8TEX9 IPO4_HUMAN false true Transporter Homo_sapiens IPO4 1081 118713.8 4.6 Involved in binding Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Mediates the nuclear import of RPS3A. In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non-classical NLS ["None"] ["None"] AF411122 18700635 IPO4 Chromosome:1 14q12 IPO4 HGNC:19426 true 2020-06-12T23:07:17Z 2020-07-28T02:32:12Z 0 0 0 3680 CDBP03679 Importin-5 O00410 IPO5_HUMAN false true Transporter Homo_sapiens IPO5 1097 123628.9 4.57 Involved in binding Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Mediates the nuclear import of ribosomal proteins RPL23A, RPS7 and RPL5. Binds to a beta-like import receptor binding (BIB) domain of RPL23A. In vitro, mediates nuclear import of H2A, H2B, H3 and H4 histones. In case of HIV-1 infection, binds and mediates the nuclear import of HIV-1 Rev ["None"] ["None"] NM_002271 24797086 IPO5 Chromosome:1 13q32.2 IPO5 HGNC:6402 true 2020-06-12T23:07:17Z 2020-07-28T02:32:12Z 0 0 0 3681 CDBP03680 Importin-7 O95373 IPO7_HUMAN false true Transporter Homo_sapiens IPO7 1038 119515.5 4.44 Involved in binding Functions in nuclear protein import, either by acting as autonomous nuclear transport receptor or as an adapter-like protein in association with the importin-beta subunit KPNB1. Acting autonomously, is thought to serve itself as receptor for nuclear localization signals (NLS) and to promote translocation of import substrates through the nuclear pore complex (NPC) by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Mediates autonomously the nuclear import of ribosomal proteins RPL23A, RPS7 and RPL5. Binds to a beta-like import receptor binding (BIB) domain of RPL23A. In association with KPNB1 mediates the nuclear import of H1 histone and the Ran-binding site of IPO7 is not required but synergizes with that of KPNB1 in importin/substrate complex dissociation. In vitro, mediates nuclear import of H2A, H2B, H3 and H4 histones. In vitro, mediates the nuclear import of HIV-1 reverse transcription complex (RTC) integrase. In case of HIV-1 infection, binds and mediates the nuclear import of HIV-1 Rev ["None"] ["None"] NM_006391.2 5453998 IPO7 Chromosome:1 11p15.4 IPO7 HGNC:9852 true 2020-06-12T23:07:17Z 2020-07-28T02:32:12Z 0 0 0 3682 CDBP03681 Importin-8 O15397 IPO8_HUMAN false true Transporter Homo_sapiens IPO8 1037 119937.0 4.8 Involved in binding Seems to function in nuclear protein import, either by acting as autonomous nuclear transport receptor or as an adapter- like protein in association with the importin-beta subunit KPNB1. Acting autonomously, is thought to serve itself as receptor for nuclear localization signals (NLS) and to promote translocation of import substrates through the nuclear pore complex (NPC) by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. In vitro mediates the nuclear import of SRP19 ["None"] ["None"] NM_006390.3 53759103 IPO8 Chromosome:1 12p11.21 IPO8 HGNC:9853 true 2020-06-12T23:07:17Z 2020-07-28T02:32:12Z 0 0 0 3683 CDBP03682 Importin-9 Q96P70 IPO9_HUMAN false true Transporter Homo_sapiens IPO9 1041 115961.8 4.44 Involved in binding Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Mediates the nuclear import of H2B histone, RPS7 and RPL18A. Prevents the cytoplasmic aggregation of RPS7 and RPL18A by shielding exposed basic domains. May also import H2A, H3, H4 histones, RPL4 and RPL6 ["None"] ["None"] NM_018085.4 21361659 IPO9 Chromosome:1 1q32.1 IPO9 HGNC:19425 true 2020-06-12T23:07:17Z 2020-07-28T02:32:12Z 0 0 0 3684 CDBP03683 IQ motif and SEC7 domain-containing protein 1 Q6DN90 IQEC1_HUMAN false false Enzyme Homo_sapiens IQSEC1 963 108313.3 6.93 Involved in ARF guanyl-nucleotide exchange factor activity In addition to accelerate GTP gamma S binding by ARFs of all three classes, it appears to function preferentially as a guanine nucleotide exchange protein for ARF6, mediating internalisation of beta-1 integrin ["None"] ["None"] NM_014869.4 50582989 IQSEC1 Chromosome:3 3p25.2 IQSEC1 HGNC:29112 true 2020-06-12T23:07:17Z 2020-07-28T02:34:03Z 0 0 0 3685 CDBP03684 Ras GTPase-activating-like protein IQGAP1 P46940 IQGA1_HUMAN true false Enzyme Homo_sapiens IQGAP1 1657 189250.4 6.43 Involved in GTPase activator activity Binds to activated CDC42 but does not stimulate its GTPase activity. It associates with calmodulin. Could serve as an assembly scaffold for the organization of a multimolecular complex that would interface incoming signals to the reorganization of the actin cytoskeleton at the plasma membrane. May promote neurite outgrowth ["None"] ["None"] BC151834 156230796 IQGAP1 Chromosome:1 15q26.1 IQGAP1 HGNC:6110 true 2020-06-12T23:07:17Z 2020-07-28T02:29:01Z 0 0 0 3686 CDBP03685 Kalirin O60229 KALRN_HUMAN false false Enzyme Homo_sapiens KALRN 2985 340171.2 5.97 Involved in Rho guanyl-nucleotide exchange factor activity Promotes the exchange of GDP by GTP. Activates specific Rho GTPase family members, thereby inducing various signaling mechanisms that regulate neuronal shape, growth, and plasticity, through their effects on the actin cytoskeleton. Induces lamellipodia independent of its GEF activity ["None"] ["None"] 1NTY NM_001024660 148839466 KALRN Chromosome:3 3q21.2 KALRN HGNC:4814 true 2020-06-12T23:07:17Z 2020-07-28T02:34:03Z 0 0 0 3687 CDBP03686 NF-kappa-B inhibitor-interacting Ras-like protein 1 Q9NYS0 KBRS1_HUMAN false false Enzyme Homo_sapiens NKIRAS1 192 21642.7 6.28 Involved in GTP binding Atypical Ras-like protein that acts as a potent regulator of NF-kappa-B activity by preventing the degradation of NF-kappa-B inhibitor beta (NFKBIB) by most signals, explaining why NFKBIB is more resistant to degradation. May act by blocking phosphorylation of NFKBIB and mediating cytoplasmic retention of p65/RELA NF-kappa-B subunit. It is unclear whether it acts as a GTPase. Both GTP- and GDP-bound forms block phosphorylation of NFKBIB ["None"] ["None"] AF229839 7008402 NKIRAS1 Chromosome:3 3p24.2 NKIRAS1 HGNC:17899 true 2020-06-12T23:07:17Z 2020-07-28T02:34:03Z 0 0 0 3688 CDBP03687 NF-kappa-B inhibitor-interacting Ras-like protein 2 Q9NYR9 KBRS2_HUMAN false false Enzyme Homo_sapiens NKIRAS2 191 21508.3 8.2 Involved in GTP binding Atypical Ras-like protein that acts as a potent regulator of NF-kappa-B activity by preventing the degradation of NF-kappa-B inhibitor beta (NFKBIB) by most signals, explaining why NFKBIB is more resistant to degradation. May act by blocking phosphorylation of NFKBIB and nuclear localization of p65/RELA NF- kappa-B subunit. It is unclear whether it acts as a GTPase. Both GTP- and GDP-bound forms block phosphorylation of NFKBIB ["None"] ["None"] NM_001001349.2 47777758 NKIRAS2 Chromosome:1 17q21.2 NKIRAS2 HGNC:17898 true 2020-06-12T23:07:17Z 2020-07-28T02:34:03Z 0 0 0 3689 CDBP03688 Kinesin-like protein KIF20A O95235 KI20A_HUMAN false false Enzyme Homo_sapiens KIF20A 890 100277.1 6.91 Involved in microtubule motor activity Interacts with guanosine triphosphate (GTP)-bound forms of RAB6A and RAB6B. May act as a motor required for the retrograde RAB6 regulated transport of Golgi membranes and associated vesicles along microtubules. Has a microtubule plus end-directed motility ["None"] ["None"] AF070672 KIF20A Chromosome:5 5q31 KIF20A HGNC:9787 true 2020-06-12T23:07:17Z 2020-07-28T02:34:03Z 0 0 0 3690 CDBP03689 Leucine-rich repeat serine/threonine-protein kinase 1 Q38SD2 LRRK1_HUMAN true false Enzyme Homo_sapiens LRRK1 2038 227841.2 6.58 Involved in protein binding ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] 90991702 LRRK1 Chromosome:1 15q26.3 LRRK1 HGNC:18608 true 2020-06-12T23:07:17Z 2020-07-28T02:29:01Z 0 0 0 3691 CDBP03690 Large subunit GTPase 1 homolog Q9H089 LSG1_HUMAN true false Enzyme Homo_sapiens LSG1 658 75224.8 6.34 Involved in GTP binding GTPase required for the XPO1/CRM1-mediated nuclear export of the 60S ribosomal subunit. Probably acts by mediating the release of NMD3 from the 60S ribosomal subunit after export into the cytoplasm (Probable) ["None"] ["None"] NM_018385.2 223029424 LSG1 Chromosome:3 3q29 LSG1 HGNC:25652 true 2020-06-12T23:07:17Z 2020-07-28T02:29:01Z 0 0 0 3692 CDBP03691 MAP kinase-activating death domain protein Q8WXG6 MADD_HUMAN true false Enzyme Homo_sapiens MADD 1647 183301.5 5.9 Involved in death receptor binding Plays a significant role in regulating cell proliferation, survival and death through alternative mRNA splicing. Isoform 5 shows increased cell proliferation and isoform 2 shows decreased. Converts GDP-bound inactive form of RAB3A, RAB3C and RAB3D to the GTP-bound active forms. Component of the TNFRSF1A signaling complex:MADD links TNFRSF1A with MAP kinase activation. Plays an important regulatory role in physiological cell death (TNF-alpha-induced, caspase-mediated apoptosis); isoform 1 is susceptible to inducing apoptosis, isoform 5 is resistant and isoform 3 and isoform 4 have no effect ["None"] ["336-356", "366-386"] NM_003682.3 209862994 MADD Chromosome:1 11p11.2 MADD HGNC:6766 true 2020-06-12T23:07:17Z 2020-07-28T02:29:01Z 0 0 0 3693 CDBP03692 Guanine nucleotide exchange factor DBS O15068 MCF2L_HUMAN false false Enzyme Homo_sapiens MCF2L 1137 128107.9 6.39 Involved in Rho guanyl-nucleotide exchange factor activity Guanine nucleotide exchange factor that potentially links pathways that signal through RAC1, RHOA and CDC42. Catalyzes guanine nucleotide exchange on RHOA and CDC42 and interacts specifically with the GTP-bound form of RAC1, suggesting that it functions as an effector of RAC1. May also participate in axonal transport in the brain. Becomes activated and highly tumorigenic by truncation of the N-terminus. Isoform 5 activates CDC42 ["None"] ["None"] 1RJ2 NM_024979 163644323 MCF2L Chromosome:1 13q34 MCF2L HGNC:14576 true 2020-06-12T23:07:17Z 2020-07-28T02:34:03Z 0 0 0 3694 CDBP03693 Melanophilin Q9BV36 MELPH_HUMAN false false Metal Binding Homo_sapiens MLPH 600 65948.5 5.98 Involved in Rab GTPase binding Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A ["None"] ["None"] NM_024101.5 13129108 MLPH Chromosome:2 2q37.3 MLPH HGNC:29643 true 2020-06-12T23:07:17Z 2020-07-28T02:32:04Z 0 1 0 3695 CDBP03694 Mitofusin-1 Q8IWA4 MFN1_HUMAN false false Enzyme Homo_sapiens MFN1 741 84158.78 6.329 Involved in GTPase activity Essential transmembrane GTPase, which mediates mitochondrial fusion. Fusion of mitochondria occurs in many cell types and constitutes an important step in mitochondria morphology, which is balanced between fusion and fission. MFN1 acts independently of the cytoskeleton. Overexpression induces the formation of mitochondrial networks. NM_033540.2 45269137 MFN1 3 3q26.33 MFN1 HGNC:18262 true hsa:55669 NP_284941.2:NM_033540.2 Ubiquitous. Expressed at slightly higher level in kidney and heart. Isoform 2 may be overexpressed in some tumors, such as lung cancers. Forms homomultimers and heteromultimers with MFN2. Multimerization, which is mediated by the second coiled coil region, may play an essential role in mitochondrion fusion . Participates in a high molecular weight multiprotein complex. Interacts with VAT1 (By similarity) 2020-06-12T23:07:17Z 2020-07-28T02:34:03Z 0 0 0 3696 CDBP03695 Mitofusin-2 O95140 MFN2_HUMAN false false Enzyme Homo_sapiens MFN2 757 86401.45 6.976 Involved in GTPase activity Essential transmembrane GTPase, which mediates mitochondrial fusion. Fusion of mitochondria occurs in many cell types and constitutes an important step in mitochondria morphology, which is balanced between fusion and fission. MFN2 acts independently of the cytoskeleton. It therefore plays a central role in mitochondrial metabolism and may be associated with obesity and/or apoptosis processes. Overexpression induces the formation of mitochondrial networks. Plays an important role in the regulation of vascular smooth muscle cell proliferation. AF036536 16168681 MFN2 1 1p36.22 MFN2 HGNC:16877 true hsa:9927 NP_001121132.1:NM_001127660.1;NP_055689.1:NM_014874.3 Ubiquitous; expressed at low level. Highly expressed in heart and kidney. Forms homomultimers and heteromultimers with MFN1. Oligomerization, which is mediated by the second coiled coil region, may play an essential role in mitochondrion fusion. Interacts with VAT1 2020-06-12T23:07:17Z 2020-07-28T02:34:03Z 0 0 0 3697 CDBP03696 Ran guanine nucleotide release factor Q9HD47 MOG1_HUMAN true false Enzyme Homo_sapiens RANGRF 186 20447.9 4.57 Involved in guanyl-nucleotide exchange factor activity May regulate the intracellular trafficking of RAN. In cardiac cells seems to regulate the cell surface localization of SCN5A ["None"] ["None"] NM_016492.4 41462397 RANGRF Chromosome:1 17p13.1 RANGRF HGNC:17679 true 2020-06-12T23:07:17Z 2020-07-28T02:29:01Z 0 0 0 3698 CDBP03697 Serine/threonine-protein kinase MRCK alpha Q5VT25 MRCKA_HUMAN true false Enzyme Homo_sapiens CDC42BPA 1732 197305.2 6.55 Involved in protein serine/threonine kinase activity May act as a downstream effector of CDC42 in cytoskeletal reorganization. Contributes to the actomyosin contractility required for cell invasion, through the regulation of MYPT1 and thus MLC2 phosphorylation ["None"] ["None"] NM_003607 30089962 CDC42BPA Chromosome:1 1q42.11 CDC42BPA HGNC:1737 true 2020-06-12T23:07:17Z 2020-07-28T02:29:01Z 0 0 0 3699 CDBP03698 Serine/threonine-protein kinase MRCK beta Q9Y5S2 MRCKB_HUMAN true false Enzyme Homo_sapiens CDC42BPB 1711 194313.6 6.31 Involved in protein serine/threonine kinase activity May act as a downstream effector of CDC42 in cytoskeletal reorganization. Contributes to the actomyosin contractility required for cell invasion, through the regulation of MYPT1 and thus MLC2 phosphorylation ["None"] ["None"] NM_006035.3 115527097 CDC42BPB Chromosome:1 14q32.3 CDC42BPB HGNC:1738 true 2020-06-12T23:07:17Z 2020-07-28T02:29:02Z 0 0 0 3700 CDBP03699 Serine/threonine-protein kinase MRCK gamma Q6DT37 MRCKG_HUMAN true false Enzyme Homo_sapiens CDC42BPG 1551 172457.6 6.21 Involved in protein serine/threonine kinase activity May act as a downstream effector of CDC42 in cytoskeletal reorganization. Contributes to the actomyosin contractility required for cell invasion, through the regulation of MYPT1 and thus MLC2 phosphorylation ["None"] ["None"] NM_017525.2 156766068 CDC42BPG Chromosome:1 11q13.1 CDC42BPG HGNC:29829 true 2020-06-12T23:07:17Z 2020-07-28T02:29:02Z 0 0 0 3701 CDBP03700 Mitochondrial GTPase 1 Q9BT17 MTG1_HUMAN true false Enzyme Homo_sapiens MTG1 334 37236.4 10.01 Involved in GTP binding Mitochondrial GTPase. May be involved in assembly of the large ribosomal subunit ["None"] ["None"] NM_138384.2 93277113 MTG1 Chromosome:1 10q26.3 MTG1 HGNC:32159 true 2020-06-12T23:07:17Z 2020-07-28T02:29:02Z 0 0 0 3702 CDBP03701 Rab effector MyRIP Q8NFW9 MYRIP_HUMAN false false Metal Binding Homo_sapiens MYRIP 859 95705.3 5.3 Involved in Rab GTPase binding Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor proteins MYO5A and MYO7A. May link RAB27A-containing vesicles to actin filaments ["None"] ["None"] AB083783 22779206 MYRIP Chromosome:3 3p22.1 MYRIP HGNC:19156 true 2020-06-12T23:07:17Z 2020-07-28T02:32:04Z 0 1 0 3703 CDBP03702 Nucleolar GTP-binding protein 1 Q9BZE4 NOG1_HUMAN false false Enzyme Homo_sapiens GTPBP4 634 73963.9 10.07 Involved in GTP binding Involved in the biogenesis of the 60S ribosomal subunit ["None"] ["None"] NM_012341.2 55953087 GTPBP4 Chromosome:1 10p15-p14 GTPBP4 HGNC:21535 true 2020-06-12T23:07:17Z 2020-07-28T02:34:03Z 0 0 0 3704 CDBP03703 Nucleolar GTP-binding protein 2 Q13823 NOG2_HUMAN false false Enzyme Homo_sapiens GNL2 731 83654.4 9.85 Involved in GTP binding GTPase that associates with pre-60S ribosomal subunits in the nucleolus and is required for their nuclear export and maturation ["None"] ["None"] BC000107 12652715 GNL2 Chromosome:1 1p34.3 GNL2 HGNC:29925 true 2020-06-12T23:07:17Z 2020-07-28T02:34:03Z 0 0 0 3705 CDBP03704 Nucleolar protein 8 Q76FK4 NOL8_HUMAN false false Enzyme Homo_sapiens NOL8 1167 131615.5 7.09 Involved in nucleotide binding Plays an essential role in the survival of diffuse-type gastric cancer cells. May be involved in regulation of gene expression at the post-transcriptional level or in ribosome biogenesis in cancer cells ["None"] ["None"] AB105104 45259447 NOL8 Chromosome:9 9q22.31 NOL8 HGNC:23387 true 2020-06-12T23:07:17Z 2020-07-28T02:34:03Z 0 0 0 3706 CDBP03705 NTF2-related export protein 1 Q9UKK6 NXT1_HUMAN false false Enzyme Homo_sapiens NXT1 140 15846.7 4.66 Involved in transport Stimulator of protein export for NES-containing proteins. Also plays a role in the nuclear export of U1 snRNA, tRNA, and mRNA. The NXF1-NXT1 heterodimer is involved in the export of HSP70 mRNA in conjunction with THOC4 and THOC5 ["None"] ["None"] 1JN5 AF156957 5880865 NXT1 Chromosome:2 20p12-p11.2 NXT1 HGNC:15913 true 2020-06-12T23:07:17Z 2020-07-28T02:34:03Z 0 0 0 3707 CDBP03706 2'-5'-oligoadenylate synthase 3 Q9Y6K5 OAS3_HUMAN true false Enzyme Homo_sapiens OAS3 1087 121164.1 8.47 Involved in RNA binding May play a role in mediating resistance to virus infection, control of cell growth, differentiation, and apoptosis. OAS3 synthesizes preferentially dimeric 2',5'-oligoadenylate molecules. GTP can be an alternative substrate ["None"] ["None"] AB044545 11527773 OAS3 Chromosome:1 12q24.2 OAS3 HGNC:8088 true 2020-06-12T23:07:17Z 2020-07-28T02:29:02Z 0 0 0 3708 CDBP03707 Obg-like ATPase 1 Q9NTK5 OLA1_HUMAN true false Enzyme Homo_sapiens OLA1 396 27583.925 9.279 Involved in GTP binding Hydrolyzes ATP, and can also hydrolyze GTP with lower efficiency. Has lower affinity for GTP. 2OHF AF078859 5531833 OLA1 2 2q31.1 OLA1 HGNC:28833 true hsa:29789 NP_001011708.1:NM_001011708.1;NP_037473.3:NM_013341.3 Expressed in all tissues tested but its expression is more abundant in testis, liver, lung, and brain. Overexpressed in several malignancies, including cancers of the colon, rectum, ovary, lung, stomach, and uterus. Monomer 2020-06-12T23:07:17Z 2020-07-28T02:29:02Z 0 0 0 3709 CDBP03708 Oligophrenin-1 O60890 OPHN1_HUMAN false false Enzyme Homo_sapiens OPHN1 802 91639.9 8.07 Involved in cytoskeletal adaptor activity Stimulates GTP hydrolysis of members of the Rho family. Its action on RHOA activity and signaling is implicated in growth and stabilization of dendritic spines, and therefore in synaptic function. Critical for the stabilization of AMPA receptors at post-synaptic sites. Critical for the regulation of synaptic vesicle endocytosis at pre-synaptic terminals ["None"] ["None"] AB102656 33354083 OPHN1 OPHN1 HGNC:8148 true 2020-06-12T23:07:17Z 2020-07-28T02:34:03Z 0 0 0 3710 CDBP03709 Phosphatidylinositol 4-kinase type 2-beta Q8TCG2 P4K2B_HUMAN true false Enzyme Homo_sapiens PI4K2B 481 54743.7 5.77 Involved in phosphotransferase activity, alcohol group as acceptor Together with PI4K2A and the type III PI4Ks (PIK4CA and PIK4CB) it contributes to the overall PI4-kinase activity of the cell. This contribution may be especially significant in plasma membrane, endosomal and Golgi compartments. The phosphorylation of phosphatidylinositol (PI) to PI4P is the first committed step in the generation of phosphatidylinositol 4,5-bisphosphate (PIP2), a precursor of the second messenger inositol 1,4,5-trisphosphate (InsP3). Contributes to the production of InsP3 in stimulated cells and is likely to be involved in the regulation of vesicular trafficking ["None"] ["None"] AF411320 15625544 PI4K2B Chromosome:4 4p15.2 PI4K2B HGNC:18215 true 2020-06-12T23:07:17Z 2020-07-28T02:29:02Z 0 0 0 3711 CDBP03710 Polyadenylate-binding protein 2 Q86U42 PABP2_HUMAN false false Enzyme Homo_sapiens PABPN1 306 32748.8 4.73 Involved in nucleotide binding Involved in the 3'-end formation of mRNA precursors (pre-mRNA) by the addition of a poly(A) tail of 200-250 nt to the upstream cleavage product. Stimulates poly(A) polymerase (PAPOLA) conferring processivity on the poly(A) tail elongation reaction and controls also the poly(A) tail length. Increases the affinity of poly(A) polymerase for RNA. Is also present at various stages of mRNA metabolism including nucleocytoplasmic trafficking and nonsense-mediated decay (NMD) of mRNA. Cooperates with SKIP to synergistically activate E-box-mediated transcription through MYOD1 and may regulate the expression of muscle-specific genes. Binds to poly(A) and to poly(G) with high affinity. May protect the poly(A) tail from degradation ["None"] ["None"] AF026029 2895276 PABPN1 Chromosome:1 14q11.2-q13 PABPN1 HGNC:8565 true 2020-06-12T23:07:17Z 2020-07-28T02:34:03Z 0 0 0 3712 CDBP03711 Serine/threonine-protein kinase PAK 1 Q13153 PAK1_HUMAN true false Enzyme Homo_sapiens PAK1 545 60646.4 5.47 Involved in protein kinase activity The activated kinase acts on a variety of targets. Likely to be the GTPase effector that links the Rho-related GTPases to the JNK MAP kinase pathway. Activated by CDC42 and RAC1. Involved in dissolution of stress fibers and reorganization of focal complexes. Involved in regulation of microtubule biogenesis through phosphorylation of TBCB. Activity is inhibited in cells undergoing apoptosis, potentially due to binding of CDC2L1 and CDC2L2 ["None"] ["None"] 1F3M NM_002576.4 42794769 PAK1 Chromosome:1 11q13-q14 PAK1 HGNC:8590 true 2020-06-12T23:07:17Z 2020-07-28T02:29:02Z 0 0 0 3713 CDBP03712 Partitioning defective 6 homolog alpha Q9NPB6 PAR6A_HUMAN false false Enzyme Homo_sapiens PARD6A 346 37387.9 9.7 Involved in protein binding Adapter protein involved in asymmetrical cell division and cell polarization processes. Probably involved in the formation of epithelial tight junctions. Association with PARD3 may prevent the interaction of PARD3 with F11R/JAM1, thereby preventing tight junction assembly. The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins ["None"] ["None"] NM_016948.2 8394417 PARD6A Chromosome:1 16q22.1 PARD6A HGNC:15943 true 2020-06-12T23:07:17Z 2020-07-28T02:34:03Z 0 0 0 3714 CDBP03713 Partitioning defective 6 homolog beta Q9BYG5 PAR6B_HUMAN false false Enzyme Homo_sapiens PARD6B 372 41181.9 5.3 Involved in protein binding Adapter protein involved in asymmetrical cell division and cell polarization processes. Probably involved in formation of epithelial tight junctions. Association with PARD3 may prevent the interaction of PARD3 with F11R/JAM1, thereby preventing tight junction assembly. The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins ["None"] ["None"] 1NF3 AB044555 13537117 PARD6B Chromosome:2 20q13.13 PARD6B HGNC:16245 true 2020-06-12T23:07:17Z 2020-07-28T02:34:03Z 0 0 0 3715 CDBP03714 Partitioning defective 6 homolog gamma Q9BYG4 PAR6G_HUMAN false false Enzyme Homo_sapiens PARD6G 376 40882.9 8.37 Involved in protein binding Adapter protein involved in asymmetrical cell division and cell polarization processes. May play a role in the formation of epithelial tight junctions. The PARD6-PARD3 complex links GTP- bound Rho small GTPases to atypical protein kinase C proteins ["None"] ["None"] 1NF3 AB044556 13537119 PARD6G Chromosome:1 18q23 PARD6G HGNC:16076 true 2020-06-12T23:07:17Z 2020-07-28T02:34:03Z 0 0 0 3716 CDBP03715 Partitioning defective 3 homolog Q8TEW0 PARD3_HUMAN false false Enzyme Homo_sapiens PARD3 1356 151422.0 7.75 Involved in protein binding Adapter protein involved in asymmetrical cell division and cell polarization processes. Seems to play a central role in the formation of epithelial tight junctions. Targets the phosphatase PTEN to cell junctions. Association with PARD6B may prevent the interaction of PARD3 with F11R/JAM1, thereby preventing tight junction assembly. The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins. Required for establishment of neuronal polarity and normal axon formation in cultured hippocampal neurons ["None"] ["None"] NM_019619.3 21361831 PARD3 Chromosome:1 10p11.21 PARD3 HGNC:16051 true 2020-06-12T23:07:17Z 2020-07-28T02:34:03Z 0 0 0 3717 CDBP03716 Phosducin-like protein Q13371 PHLP_HUMAN false false Enzyme Homo_sapiens PDCL 301 34281.3 4.37 Involved in response to stimulus ["None"] ["None"] AF031463 4104075 PDCL Chromosome:9 9q12-q13 PDCL HGNC:8770 true 2020-06-12T23:07:17Z 2020-07-28T02:34:03Z 0 0 0 3718 CDBP03717 PRKCA-binding protein Q9NRD5 PICK1_HUMAN false false Enzyme Homo_sapiens PICK1 415 46599.7 4.94 Involved in protein binding Probable adapter protein that bind to and organize the subcellular localization of a variety of membrane proteins containing some PDZ recognition sequence. Involved in the clustering of various receptors, possibly by acting at the receptor internalization level. May be regulated upon PRKCA activation. May regulate ACCN3-ACCN2 heteromeric cation channel ["None"] ["None"] AB026491 6691439 PICK1 Chromosome:2 22q13.1 PICK1 HGNC:9394 true 2020-06-12T23:07:17Z 2020-07-28T02:34:03Z 0 0 0 3719 CDBP03718 Plexin-B1 O43157 PLXB1_HUMAN false false Receptor Homo_sapiens PLXNB1 2135 232295.5 5.17 Involved in receptor activity Receptor for SEMA4D. Plays a role in RHOA activation and subsequent changes of the actin cytoskeleton. Plays a role in axon guidance, invasive growth and cell migration ["1-19"] ["1491-1511"] NM_001130082.1 194272180 PLXNB1 Chromosome:3 3p21.31 PLXNB1 HGNC:9103 true 2020-06-12T23:07:17Z 2020-07-28T02:32:20Z 1 0 0 3720 CDBP03719 DENN domain-containing protein 5A Q6IQ26 DEN5A_HUMAN false false Enzyme Homo_sapiens DENND5A 1287 147093.3 6.68 May be involved in Rab6-mediated GTPase signaling ["None"] ["None"] NM_015213.2 44889475 DENND5A Chromosome:1 11p15.4 DENND5A HGNC:19344 true 2020-06-12T23:07:17Z 2020-07-28T02:34:03Z 0 0 0 3721 CDBP03720 Ras-related protein Rab-15 P59190 RAB15_HUMAN false false Enzyme Homo_sapiens RAB15 212 24390.5 5.43 Involved in GTP binding May act in concert with RAB3A in regulating aspects of synaptic vesicle membrane flow within the nerve terminal ["None"] ["None"] 38371739 RAB15 Chromosome:1 14q23.3 RAB15 HGNC:20150 true 2020-06-12T23:07:17Z 2020-07-28T02:34:03Z 0 0 0 3722 CDBP03721 Ras-related protein Rab-1B Q9H0U4 RAB1B_HUMAN false false Enzyme Homo_sapiens RAB1B 201 22171.0 5.37 Involved in GTP binding Protein transport. Regulates vesicular transport between the endoplasmic reticulum and successive Golgi compartments ["None"] ["None"] AF092437 33150668 RAB1B Chromosome:1 11q12 RAB1B HGNC:18370 true 2020-06-12T23:07:17Z 2020-07-28T02:34:03Z 0 0 0 3723 CDBP03722 Ras-related protein Rab-5A P20339 RAB5A_HUMAN false false Enzyme Homo_sapiens RAB5A 215 23658.5 8.31 Involved in GTP binding Required for the fusion of plasma membranes and early endosomes ["None"] ["None"] 1R2Q AF498936 20379048 RAB5A Chromosome:3 3p24-p22 RAB5A HGNC:9783 true 2020-06-12T23:07:17Z 2020-07-28T02:34:03Z 0 0 0 3724 CDBP03723 Ras-related protein Rab-5B P61020 RAB5B_HUMAN false false Enzyme Homo_sapiens RAB5B 215 23706.6 8.3 Involved in GTP binding Protein transport. Probably involved in vesicular traffic ["None"] ["None"] 1R2Q AF498937 20379050 RAB5B Chromosome:1 12q13 RAB5B HGNC:9784 true 2020-06-12T23:07:17Z 2020-07-28T02:34:04Z 0 0 0 3725 CDBP03724 Rab GTPase-binding effector protein 1 Q15276 RABE1_HUMAN true false Enzyme Homo_sapiens RABEP1 862 99289.7 4.66 Involved in GTPase activator activity Rab effector protein acting as linker between gamma- adaptin, RAB4A and RAB5A. Involved in endocytic membrane fusion and membrane trafficking of recycling endosomes. Stimulates RABGEF1 mediated nucleotide exchange on RAB5A ["None"] ["None"] 1X79 NM_004703.4 31377798 RABEP1 Chromosome:1 17p13.2 RABEP1 HGNC:17677 true 2020-06-12T23:07:17Z 2020-07-28T02:29:02Z 1 0 0 3726 CDBP03725 Rab GTPase-binding effector protein 2 Q9H5N1 RABE2_HUMAN true false Enzyme Homo_sapiens RABEP2 569 63542.2 4.45 Involved in GTPase activator activity Plays a role in membrane trafficking and in homotypic early endosome fusion ["None"] ["None"] NM_024816.2 117956403 RABEP2 Chromosome:1 16p11.2 RABEP2 HGNC:24817 true 2020-06-12T23:07:17Z 2020-07-28T02:29:02Z 1 0 0 3727 CDBP03726 Rab9 effector protein with kelch motifs Q7Z6M1 RABEK_HUMAN false false Enzyme Homo_sapiens RABEPK 372 40564.4 6.22 Involved in protein binding Rab9 effector required for endosome to trans-Golgi network (TGN) transport ["None"] ["None"] AL445930 55959876 RABEPK Chromosome:9 9q33.3 RABEPK HGNC:16896 true 2020-06-12T23:07:17Z 2020-07-28T02:34:04Z 0 0 0 3728 CDBP03727 Rab5 GDP/GTP exchange factor Q9UJ41 RABX5_HUMAN false false Metal Binding Homo_sapiens RABGEF1 708 79370.5 6.81 Involved in DNA binding Rab effector protein acting as linker between gamma- adaptin, RAB4A or RAB5A. Involved in endocytic membrane fusion and membrane trafficking of recycling endosomes. Stimulates nucleotide exchange on RAB5A. Can act as a ubiquitin ligase ["None"] ["None"] AK127790 34534860 RABGEF1 Chromosome:7 7q11.21 RABGEF1 HGNC:17676 true 2020-06-12T23:07:17Z 2020-07-28T02:32:04Z 0 1 0 3729 CDBP03728 Ras-related C3 botulinum toxin substrate 3 P60763 RAC3_HUMAN false false Enzyme Homo_sapiens RAC3 192 21378.7 8.27 Involved in GTP binding Plasma membrane-associated small GTPase which cycles between an active GTP-bound and inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses, such as cell spreading and the formation of actin-based protusions including lamellipodia and membrane ruffles ["None"] ["None"] 1I4L AF008591 2326206 RAC3 Chromosome:1 17q25.3 RAC3 HGNC:9803 true 2020-06-12T23:07:17Z 2020-07-28T02:34:04Z 0 0 0 3730 CDBP03729 Ras-interacting protein 1 Q5U651 RAIN_HUMAN false false Enzyme Homo_sapiens RASIP1 963 103456.3 8.02 Involved in signal transduction May act as effector for Golgi-bound HRAS and other Ras- like proteins. May promote HRAS-mediated transformation ["None"] ["None"] NM_017805.2 38570105 RASIP1 Chromosome:1 19q13.33 RASIP1 HGNC:24716 true 2020-06-12T23:07:17Z 2020-07-28T02:34:04Z 0 0 0 3731 CDBP03730 Ran-binding protein 3 Q9H6Z4 RANB3_HUMAN false false Enzyme Homo_sapiens RANBP3 567 60209.3 4.42 Involved in intracellular transport Acts as a cofactor for XPO1/CRM1-mediated nuclear export, perhaps as export complex scaffolding protein. Bound to XPO1/CRM1, stabilizes the XPO1/CRM1-cargo interaction. In the absence of Ran-bound GTP prevents binding of XPO1/CRM1 to the nuclear pore complex. Binds to CHC1/RCC1 and increases the guanine nucleotide exchange activity of CHC1/RCC1. Recruits XPO1/CRM1 to CHC1/RCC1 in a Ran-dependent manner ["None"] ["None"] NM_007322.2 6466466 RANBP3 Chromosome:1 19p13.3 RANBP3 HGNC:9850 true 2020-06-12T23:07:17Z 2020-07-28T02:34:04Z 0 0 0 3732 CDBP03731 Ran-binding protein 9 Q96S59 RANB9_HUMAN false false Enzyme Homo_sapiens RANBP9 729 77846.7 6.78 Cell cycle control, cell division, chromosome partitioning May act as an adapter protein to couple membrane receptors to intracellular signaling pathways. May be involved in signaling of ITGB2/LFA-1 and other integrins. Enhances HGF-MET signaling by recruiting Sos and activating the Ras pathway. Involved in activation of androgen and glucocorticoid receptor in the presence of their cognate hormones. Stabilizes TP73 isoform Alpha, probably by inhibiting its ubiquitination, and increases its proapoptotic activity. Inhibits the kinase activity of DYRK1A and DYRK1B. Inhibits FMR1 binding to RNA ["None"] ["None"] NM_005493.2 39812378 RANBP9 Chromosome:6 6p23 RANBP9 HGNC:13727 true 2020-06-12T23:07:17Z 2020-07-28T02:34:04Z 0 0 0 3733 CDBP03732 Ran-specific GTPase-activating protein P43487 RANG_HUMAN true false Enzyme Homo_sapiens RANBP1 201 23309.9 4.96 Involved in intracellular transport Inhibits GTP exchange on Ran. Forms a Ran-GTP-RANBP1 trimeric complex. Increase GTP hydrolysis induced by the Ran GTPase activating protein RANGAP1. May act in an intracellular signaling pathway which may control the progression through the cell cycle by regulating the transport of protein and nucleic acids across the nuclear membrane ["None"] ["None"] 1K5G CR456556 47678643 RANBP1 Chromosome:2 22q11.21 RANBP1 HGNC:9847 true 2020-06-12T23:07:17Z 2020-07-28T02:29:03Z 0 0 0 3734 CDBP03733 Ras-related protein Rap-2b P61225 RAP2B_HUMAN false false Enzyme Homo_sapiens RAP2B 183 20504.2 4.44 Involved in GTP binding ["None"] ["None"] 3RAP AF493915 20147723 RAP2B Chromosome:3 3q25.2 RAP2B HGNC:9862 true 2020-06-12T23:07:17Z 2020-07-28T02:34:04Z 0 0 0 3735 CDBP03734 GTPase ERas Q7Z444 RASE_HUMAN true false Enzyme Homo_sapiens ERAS 233 25286.5 6.57 Involved in GTP binding Ras proteins bind GDP/GTP and possess intrinsic GTPase activity. Plays an important role in the tumor-like growth properties of embryonic stem cells ["None"] ["None"] AB093575 31158278 ERAS ERAS HGNC:5174 true 2020-06-12T23:07:17Z 2020-07-28T02:29:03Z 0 0 0 3736 CDBP03735 Ras and EF-hand domain-containing protein Q8IZ41 RASEF_HUMAN false false Metal Binding Homo_sapiens RASEF 740 82878.3 4.73 Involved in calcium ion binding Binds predominantly GDP, and also GTP ["None"] ["None"] NM_152573.2 40255119 RASEF Chromosome:9 9q21.32 RASEF HGNC:26464 true 2020-06-12T23:07:17Z 2020-07-28T02:32:04Z 0 1 0 3737 CDBP03736 Ras association domain-containing protein 2 P50749 RASF2_HUMAN false false Enzyme Homo_sapiens RASSF2 326 37789.9 9.17 Involved in signal transduction Potential tumor suppressor. Acts as a KRAS-specific effector protein. May promote apoptosis and cell cycle arrest ["None"] ["None"] AK222650 62896859 RASSF2 Chromosome:2 20p13 RASSF2 HGNC:9883 true 2020-06-12T23:07:17Z 2020-07-28T02:34:04Z 0 0 0 3738 CDBP03737 Ras association domain-containing protein 4 Q9H2L5 RASF4_HUMAN false false Enzyme Homo_sapiens RASSF4 321 36747.9 7.85 Involved in signal transduction Potential tumor suppressor. May act as a KRAS effector protein. May promote apoptosis and cell cycle arrest ["None"] ["None"] AF260335 12005908 RASSF4 Chromosome:1 10q11.21 RASSF4 HGNC:20793 true 2020-06-12T23:07:17Z 2020-07-28T02:34:04Z 0 0 0 3739 CDBP03738 GTPase KRas P01116 RASK_HUMAN true false Enzyme Homo_sapiens KRAS 189 21655.7 6.76 Involved in GTP binding Ras proteins bind GDP/GTP and possess intrinsic GTPase activity ["None"] ["None"] M54968 186764 KRAS Chromosome:1 12p12.1 KRAS HGNC:6407 true 2020-06-12T23:07:17Z 2020-07-28T02:29:03Z 0 0 0 3740 CDBP03739 GTPase NRas P01111 RASN_HUMAN true false Enzyme Homo_sapiens NRAS 189 21229.0 4.78 Involved in GTP binding Ras proteins bind GDP/GTP and possess intrinsic GTPase activity ["None"] ["None"] AF493919 20147731 NRAS Chromosome:1 1p13.2 NRAS HGNC:7989 true 2020-06-12T23:07:17Z 2020-07-28T02:29:03Z 0 0 0 3741 CDBP03740 Rab3 GTPase-activating protein catalytic subunit Q15042 RB3GP_HUMAN true false Enzyme Homo_sapiens RAB3GAP1 981 110522.6 5.26 Involved in Rab GTPase activator activity Probable catalytic subunit of a GTPase activating protein that has specificity for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Specifically converts active Rab3-GTP to the inactive form Rab3-GDP. Required for normal eye and brain development. May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters ["None"] ["None"] NM_012233.2 55743118 RAB3GAP1 Chromosome:2 2q21.3 RAB3GAP1 HGNC:17063 true 2020-06-12T23:07:17Z 2020-07-28T02:29:03Z 0 0 0 3742 CDBP03741 ELKS/Rab6-interacting/CAST family member 1 Q8IUD2 RB6I2_HUMAN false false Enzyme Homo_sapiens ERC1 1116 128085.4 5.8 Involved in protein transport Regulatory subunit of the IKK complex. Probably recruits IkappaBalpha/NFKBIA to the complex. May be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. May be involved in vesicle trafficking at the CAZ. May be involved in Rab-6 regulated endosomes to Golgi transport ["None"] ["None"] NM_178040.2 38045898 ERC1 Chromosome:1 12p13.3 ERC1 HGNC:17072 true 2020-06-12T23:07:17Z 2020-07-28T02:34:04Z 0 0 0 3743 CDBP03742 Rab3 GTPase-activating protein non-catalytic subunit Q9H2M9 RBGPR_HUMAN true false Enzyme Homo_sapiens RAB3GAP2 1393 155983.3 5.34 Involved in GTPase activator activity Regulatory subunit of a GTPase activating protein that has specificity for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Rab3 GTPase-activating complex specifically converts active Rab3-GTP to the inactive form Rab3- GDP. Required for normal eye and brain development. May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non- synaptic vesicular release of neurotransmitters ["None"] ["None"] AB020646 20521672 RAB3GAP2 Chromosome:1 1q41 RAB3GAP2 HGNC:17168 true 2020-06-12T23:07:17Z 2020-07-28T02:29:03Z 0 0 0 3744 CDBP03743 RNA-binding protein 4 Q9BWF3 RBM4_HUMAN false false Metal Binding Homo_sapiens RBM4 364 40313.4 7.08 Involved in nucleotide binding May play a role in alternative splice site selection during pre-mRNA processing ["None"] ["None"] AK097592 193783581 RBM4 Chromosome:1 11q13 RBM4 HGNC:9901 true 2020-06-12T23:07:17Z 2020-07-28T02:32:04Z 0 1 0 3745 CDBP03744 Rabenosyn-5 Q9H1K0 RBNS5_HUMAN false false Metal Binding Homo_sapiens ZFYVE20 784 88868.8 5.19 Involved in zinc ion binding Rab4/Rab5 effector protein acting in early endocytic membrane fusion and membrane trafficking of recycling endosomes. Required for endosome fusion either homotypically or with clathrin coated vesicles. Plays a role in the lysosomal trafficking of CTSD/cathepsin D from the Golgi to lysosomes. Also promotes the recycling of transferrin directly from early endosomes to the plasma membrane. Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate (PtdInsP3) ["None"] ["None"] NM_022340.2 70980547 ZFYVE20 Chromosome:3 3p25.1 ZFYVE20 HGNC:20759 true 2020-06-12T23:07:17Z 2020-07-28T02:32:04Z 0 1 0 3746 CDBP03745 Ran-binding protein 17 Q9H2T7 RBP17_HUMAN false true Transporter Homo_sapiens RANBP17 1088 124374.1 6.4 Involved in binding May function as a nuclear transport receptor ["None"] ["None"] AF222747 12004990 RANBP17 Chromosome:5 5q34 RANBP17 HGNC:14428 true 2020-06-12T23:07:17Z 2020-07-28T02:32:12Z 0 0 0 3747 CDBP03746 E3 SUMO-protein ligase RanBP2 P49792 RBP2_HUMAN true false Enzyme Homo_sapiens RANBP2 3224 358196.4 6.1 Involved in peptidyl-prolyl cis-trans isomerase activity E3 SUMO-protein ligase which facilitates SUMO1 and SUMO2 conjugation by UBE2I. Involved in transport factor (Ran-GTP, karyopherin)-mediated protein import via the F-G repeat-containing domain which acts as a docking site for substrates. Could also have isomerase or chaperone activity and may bind RNA or DNA. Component of the nuclear export pathway. Specific docking site for the nuclear export factor exportin-1 ["None"] ["None"] 1RRP NM_006267.4 150418007 RANBP2 Chromosome:2 2q12.3 RANBP2 HGNC:9848 true 2020-06-12T23:07:17Z 2020-07-28T02:29:03Z 0 1 0 3748 CDBP03747 Regulator of chromosome condensation P18754 RCC1_HUMAN false false Enzyme Homo_sapiens RCC1 421 44968.9 7.57 Involved in histone binding Guanine-nucleotide releasing factor that promotes the exchange of Ran-bound GDP by GTP. Involved in the regulation of onset of chromosome condensation in the S phase. Binds both to the nucleosomes and double-stranded DNA. RCC1-Ran complex (together with other proteins) acts as a component of a signal transmission pathway that detects unreplicated DNA. Plays a key role in nucleo- cytoplasmic transport, mitosis and nuclear-envelope assembly ["None"] ["None"] 1A12 AF498924 20379024 RCC1 Chromosome:1 1p36.1 RCC1 HGNC:1913 true 2020-06-12T23:07:17Z 2020-07-28T02:34:04Z 0 0 0 3749 CDBP03748 GTPase RhebL1 Q8TAI7 REBL1_HUMAN true false Enzyme Homo_sapiens RHEBL1 183 20681.5 6.72 Involved in GTP binding Binds GTP and exhibits intrinsic GTPase activity. May activate NF-kappa-B-mediated gene transcription. Promotes signal transduction through FRAP1, activates RPS6KB1, and is a downstream target of the small GTPase-activating proteins TSC1 and TSC2 ["None"] ["None"] AK098663 21758740 RHEBL1 Chromosome:1 12q13.12 RHEBL1 HGNC:21166 true 2020-06-12T23:07:17Z 2020-07-28T02:29:03Z 0 0 0 3750 CDBP03749 GTP-binding protein REM 2 Q8IYK8 REM2_HUMAN false false Transcription Factor Homo_sapiens REM2 340 37138.4 8.36 Involved in GTP binding Binds GTP saturably and exhibits a low intrinsic rate of GTP hydrolysis ["None"] ["None"] AK096283 21755736 REM2 Chromosome:1 14q11.2 REM2 HGNC:20248 true 2020-06-12T23:07:17Z 2020-07-28T02:32:06Z 0 0 1 3751 CDBP03750 Rab15 effector protein Q6BDI9 REP15_HUMAN false false Enzyme Homo_sapiens REP15 236 26571.7 6.88 Regulates transferrin receptor recycling from the endocytic recycling compartment ["None"] ["None"] BC140921 187954585 REP15 Chromosome:1 12p11.22 REP15 HGNC:33748 true 2020-06-12T23:07:17Z 2020-07-28T02:34:04Z 0 0 0 3752 CDBP03751 Ras-related and estrogen-regulated growth inhibitor Q96A58 RERG_HUMAN false false Enzyme Homo_sapiens RERG 199 22607.7 7.45 Involved in GTP binding Binds GDP/GTP and possesses intrinsic GTPase activity. Has higher affinity for GDP than for GTP. In cell lines overexpression leads to a reduction in the rate of proliferation, colony formation and in tumorigenic potential ["None"] ["None"] AF339750 15430701 RERG Chromosome:1 12p12.3 RERG HGNC:15980 true 2020-06-12T23:07:17Z 2020-07-28T02:34:04Z 0 0 0 3753 CDBP03752 Rab11 family-interacting protein 2 Q7L804 RFIP2_HUMAN false false Enzyme Homo_sapiens RAB11FIP2 512 58278.6 9.95 Involved in protein transport A Rab11 effector protein acting in the regulation of the transport of vesicles from the endosomal recycling compartment (ERC) to the plasma membrane. Also involved in receptor-mediated endocytosis and membrane trafficking of recycling endosomes, probably originating from clathrin-coated vesicles. Binds preferentially to phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and phosphatidic acid (PA) ["None"] ["None"] NM_014904.2 7662394 RAB11FIP2 Chromosome:1 10q26.11 RAB11FIP2 HGNC:29152 true 2020-06-12T23:07:17Z 2020-07-28T02:34:04Z 0 0 0 3754 CDBP03753 Rab11 family-interacting protein 4 Q86YS3 RFIP4_HUMAN false false Metal Binding Homo_sapiens RAB11FIP4 637 71927.5 4.5 Involved in calcium ion binding Acts as a regulator of endocytic traffic by participating in membrane delivery. Required for the abcission step in cytokinesis, possibly by acting as an 'address tag' delivering recycling endosome membranes to the cleavage furrow during late cytokinesis. In case of infection by HCMV (human cytomegalovirus), may participate in egress of the virus out of nucleus; this function is independent of ARF6 ["None"] ["None"] NM_032932.3 28195388 RAB11FIP4 Chromosome:1 17q11.2 RAB11FIP4 HGNC:30267 true 2020-06-12T23:07:17Z 2020-07-28T02:32:04Z 0 1 0 3755 CDBP03754 Rab11 family-interacting protein 5 Q9BXF6 RFIP5_HUMAN false false Enzyme Homo_sapiens RAB11FIP5 653 70414.4 9.8 Involved in protein transport Rab effector involved in protein trafficking from apical recycling endosomes to the apical plasma membrane ["None"] ["None"] NM_015470.2 24308075 RAB11FIP5 Chromosome:2 2p13 RAB11FIP5 HGNC:24845 true 2020-06-12T23:07:17Z 2020-07-28T02:34:04Z 0 0 0 3756 CDBP03755 Ral guanine nucleotide dissociation stimulator-like 2 O15211 RGL2_HUMAN false false Enzyme Homo_sapiens RGL2 777 83548.1 6.09 Involved in signal transduction Probable guanine nucleotide exchange factor. Putative effector of Ras and/or Rap. Associates with the GTP-bound form of Rap 1A and H-Ras in vitro ["None"] ["None"] 1RLF AL050259 4886477 RGL2 Chromosome:6 6p21.3 RGL2 HGNC:9769 true 2020-06-12T23:07:17Z 2020-07-28T02:34:04Z 0 0 0 3757 CDBP03756 Ral guanine nucleotide dissociation stimulator-like 3 Q3MIN7 RGL3_HUMAN false false Enzyme Homo_sapiens RGL3 710 78078.5 7.76 Involved in signal transduction Guanine nucleotide exchange factor (GEF) for Ral-A. Potential effector of GTPase HRas and Ras-related protein M-Ras. Negatively regulates Elk-1-dependent gene induction downstream of HRas and MEKK1 ["None"] ["None"] NM_001035223.2 239582763 RGL3 Chromosome:1 19p13.2 RGL3 HGNC:30282 true 2020-06-12T23:07:17Z 2020-07-28T02:34:04Z 0 0 0 3758 CDBP03757 RANBP2-like and GRIP domain-containing protein 8 O14715 RGPD8_HUMAN false false Enzyme Homo_sapiens RGPD8 1765 198991.1 6.44 Involved in intracellular transport ["None"] ["None"] 1XKE NM_001164463.1 256600210 RGPD8 Chromosome:2 2q13 RGPD8 HGNC:9849 true 2020-06-12T23:07:17Z 2020-07-28T02:34:04Z 0 0 0 3759 CDBP03758 Ras-specific guanine nucleotide-releasing factor 1 Q13972 RGRF1_HUMAN false false Enzyme Homo_sapiens RASGRF1 1275 145381.4 7.3 Involved in Rho guanyl-nucleotide exchange factor activity Promotes the exchange of Ras-bound GDP by GTP ["None"] ["None"] L26584 433720 RASGRF1 Chromosome:1 15q24.2 RASGRF1 HGNC:9875 true 2020-06-12T23:07:17Z 2020-07-28T02:34:04Z 0 0 0 3760 CDBP03759 GTP-binding protein Rheb Q15382 RHEB_HUMAN false false Enzyme Homo_sapiens RHEB 184 20497.3 5.73 Involved in GTP binding Stimulates the phosphorylation of S6K1 and EIF4EBP1 through activation of mTORC1 signaling. Activates the protein kinase activity of mTORC1. Has low intrinsic GTPase activity ["None"] ["None"] 1XTS Z29677 453470 RHEB Chromosome:7 7q36 RHEB HGNC:10011 true 2020-06-12T23:07:17Z 2020-07-28T02:34:04Z 0 0 0 3761 CDBP03760 GTP-binding protein Rhes Q96D21 RHES_HUMAN false false Enzyme Homo_sapiens RASD2 266 30365.8 9.18 Involved in GTP binding GTPase signaling protein that binds to and hydrolyzes GTP. Regulates signaling pathways involving G-proteins-coupled receptor and heterotrimeric proteins such as GNB1, GNB2 and GNB3. May be involved in selected striatal competencies, mainly locomotor activity and motor coordination ["None"] ["None"] NM_014310.3 22027486 RASD2 Chromosome:2 22q13.1 RASD2 HGNC:18229 true 2020-06-12T23:07:17Z 2020-07-28T02:34:04Z 0 0 0 3762 CDBP03761 Rho GTPase-activating protein 21 Q5T5U3 RHG21_HUMAN true false Enzyme Homo_sapiens ARHGAP21 1957 217328.9 7.87 Involved in protein binding Functions as a GTPase-activating protein (GAP) for RHOA and CDC42. Downstream partner of ARF1 which may control Golgi apparatus structure and function. Also required for CTNNA1 recruitment to adherens junctions ["None"] ["None"] AF480466 20514209 ARHGAP21 Chromosome:1 10p12.1|10p12.3 ARHGAP21 HGNC:23725 true 2020-06-12T23:07:17Z 2020-07-28T02:29:04Z 0 0 0 3763 CDBP03762 Rho-related GTP-binding protein RhoD O00212 RHOD_HUMAN false false Enzyme Homo_sapiens RHOD 210 23412.7 8.06 Involved in GTP binding Involved in endosome dynamics. May coordinate membrane transport with the function of the cytoskeleton. Participates in reorganization of actin cytoskeleton ["None"] ["None"] AF498973 20379120 RHOD Chromosome:1 11q14.3 RHOD HGNC:670 true 2020-06-12T23:07:17Z 2020-07-28T02:34:04Z 0 0 0 3764 CDBP03763 Rho-related GTP-binding protein RhoF Q9HBH0 RHOF_HUMAN false false Enzyme Homo_sapiens RHOF 211 23625.2 8.82 Involved in GTP binding Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. Causes the formation of thin, actin-rich surface projections called filopodia. Functions cooperatively with CDC42 and Rac to generate additional structures, increasing the diversity of actin- based morphology ["None"] ["None"] AF239923 RHOF Chromosome:1 12q24.31 RHOF HGNC:15703 true 2020-06-12T23:07:17Z 2020-07-28T02:34:04Z 0 0 0 3765 CDBP03764 Rho-related GTP-binding protein RhoJ Q9H4E5 RHOJ_HUMAN false false Enzyme Homo_sapiens RHOJ 214 23820.3 6.83 Involved in GTP binding GTP-binding protein with GTPase activity. Elicits the formation of F-actin-rich structures in fibroblasts and is involved in the regulation of cell morphology ["None"] ["None"] AJ276567 9968292 RHOJ Chromosome:1 14q23.2 RHOJ HGNC:688 true 2020-06-12T23:07:17Z 2020-07-28T02:34:04Z 0 0 0 3766 CDBP03765 Rhophilin-1 Q8TCX5 RHPN1_HUMAN false false Enzyme Homo_sapiens RHPN1 695 76291.4 7.82 Involved in signal transduction Has no enzymatic activity. May serve as a target for Rho, and interact with some cytoskeletal component upon Rho binding or relay a Rho signal to other molecules ["None"] ["None"] AY082588 19697913 RHPN1 Chromosome:8 8q24.3 RHPN1 HGNC:19973 true 2020-06-12T23:07:17Z 2020-07-28T02:34:04Z 0 0 0 3767 CDBP03766 Synembryn-A Q9NPQ8 RIC8A_HUMAN false false Enzyme Homo_sapiens RIC8A 531 59708.9 4.98 Involved in binding Guanine nucleotide exchange factor (GEF), which can activate some, but not all, G-alpha proteins. Able to activate GNAI1, GNAO1 and GNAQ, but not GNAS by exchanging bound GDP for free GTP. Involved in regulation of microtubule pulling forces during mitotic movement of chromosomes by stimulating G(i)-alpha protein, possibly leading to release G(i)-alpha-GTP and NuMA proteins from the NuMA-GPSM2-G(i)-alpha-GDP complex. Also acts as an activator for G(q)-alpha (GNAQ) protein by enhancing the G(q)-coupled receptor-mediated ERK activation ["None"] ["None"] AL390088 9368538 RIC8A Chromosome:1 11p15.5 RIC8A HGNC:29550 true 2020-06-12T23:07:18Z 2020-07-28T02:34:04Z 0 0 0 3768 CDBP03767 Regulating synaptic membrane exocytosis protein 2 Q9UQ26 RIMS2_HUMAN false false Metal Binding Homo_sapiens RIMS2 1411 160401.6 9.47 Involved in protein binding Rab effector involved in exocytosis. May act as scaffold protein ["None"] ["None"] 1V27 154354981 RIMS2 Chromosome:8 8q22.3 RIMS2 HGNC:17283 true 2020-06-12T23:07:18Z 2020-07-28T02:32:04Z 0 1 0 3769 CDBP03768 Ras and Rab interactor 1 Q13671 RIN1_HUMAN false false Enzyme Homo_sapiens RIN1 783 84098.0 8.08 Involved in signal transduction Ras effector protein, which may serve as an inhibitory modulator of neuronal plasticity in aversive memory formation. Can affect Ras signaling at different levels. First, by competing with RAF1 protein for binding to activated Ras. Second, by enhancing signaling from ABL1 and ABL2, which regulate cytoskeletal remodeling. Third, by activating RAB5A, possibly by functioning as a guanine nucleotide exchange factor (GEF) for RAB5A, by exchanging bound GDP for free GTP, and facilitating Ras-activated receptor endocytosis ["None"] ["None"] BC014417 15680148 RIN1 Chromosome:1 11q13.2 RIN1 HGNC:18749 true 2020-06-12T23:07:18Z 2020-07-28T02:34:04Z 0 0 0 3770 CDBP03769 Ras and Rab interactor 2 Q8WYP3 RIN2_HUMAN false false Enzyme Homo_sapiens RIN2 895 100162.3 6.55 Involved in signal transduction Ras effector protein. May function as an upstream activator and/or downstream effector for RAB5B in endocytic pathway. May function as a guanine nucleotide exchange (GEF) of RAB5B, required for activating the RAB5 proteins by exchanging bound GDP for free GTP ["None"] ["None"] AB060339 18413654 RIN2 Chromosome:2 20p11.22 RIN2 HGNC:18750 true 2020-06-12T23:07:18Z 2020-07-28T02:34:04Z 0 0 0 3771 CDBP03770 Ras and Rab interactor 3 Q8TB24 RIN3_HUMAN false false Enzyme Homo_sapiens RIN3 985 107852.4 6.58 Involved in signal transduction Potential Ras effector protein. May function as a guanine nucleotide exchange (GEF), by exchanging bound GDP for free GTP ["None"] ["None"] NM_024832.3 40353729 RIN3 Chromosome:1 14q32.12 RIN3 HGNC:18751 true 2020-06-12T23:07:18Z 2020-07-28T02:34:04Z 0 0 0 3772 CDBP03771 GTP-binding protein Rit1 Q92963 RIT1_HUMAN false false Enzyme Homo_sapiens RIT1 219 25144.6 9.5 Involved in GTP binding Plays a crucial role in coupling NGF stimulation to the activation of both EPHB2 and MAPK14 signaling pathways and in NGF- dependent neuronal differentiation ["None"] ["None"] AF084462 4234918 RIT1 Chromosome:1 1q22 RIT1 HGNC:10023 true 2020-06-12T23:07:18Z 2020-07-28T02:34:04Z 0 0 0 3773 CDBP03772 GTP-binding protein Rit2 Q99578 RIT2_HUMAN false false Enzyme Homo_sapiens RIT2 217 24667.9 6.52 Involved in GTP binding Binds and exchanges GTP and GDP ["None"] ["None"] AF493922 20147737 RIT2 Chromosome:1 18q12.3 RIT2 HGNC:10017 true 2020-06-12T23:07:18Z 2020-07-28T02:34:04Z 0 0 0 3774 CDBP03773 Rho-related GTP-binding protein RhoE P61587 RND3_HUMAN false false Enzyme Homo_sapiens RND3 244 27368.0 8.63 Involved in GTP binding Binds GTP but lacks intrinsic GTPase activity and is resistant to Rho-specific GTPase-activating proteins ["None"] ["None"] 1GWN X95282 1171566 RND3 Chromosome:2 2q23.3 RND3 HGNC:671 true 2020-06-12T23:07:18Z 2020-07-28T02:34:04Z 0 0 0 3775 CDBP03774 Phosphorylated adapter RNA export protein Q9H814 PHAX_HUMAN false false Enzyme Homo_sapiens PHAX 394 44402.2 5.05 Involved in RNA binding A phosphoprotein adapter involved in the XPO1-mediated U snRNA export from the nucleus. Bridge components required for U snRNA export, the cap binding complex (CBC)-bound snRNA on the one hand and the GTPase Ran in its active GTP-bound form together with the export receptor XPO1 on the other. Its phosphorylation in the nucleus is required for U snRNA export complex assembly and export, while its dephosphorylation in the cytoplasm causes export complex disassembly. It is recycled back to the nucleus via the importin alpha/beta heterodimeric import receptor. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Its compartmentalized phosphorylation cycle may also contribute to the directionality of export. Binds strongly to m7G-capped U1 and U5 small nuclear RNAs (snRNAs) in a sequence-unspecific manner and phosphorylation- independent manner. Plays also a role in the biogenesis of U3 small nucleolar RNA (snoRNA). Involved in the U3 snoRNA transport from nucleoplasm to Cajal bodies. Binds strongly to m7G-capped U3, U8 and U13 precursor snoRNAs and weakly to trimethylated (TMG)-capped U3, U8 and U13 snoRNAs. Binds also to telomerase RNA ["None"] ["None"] AK023255 10435105 PHAX Chromosome:5 5q23.2 PHAX HGNC:10241 true 2020-06-12T23:07:18Z 2020-07-28T02:34:04Z 0 0 0 3776 CDBP03775 Rap guanine nucleotide exchange factor 5 Q92565 RPGF5_HUMAN false false Enzyme Homo_sapiens RAPGEF5 580 67732.6 6.27 Involved in guanyl-nucleotide exchange factor activity Guanine nucleotide exchange factor (GEF) for RAP1A, RAP2A and MRAS/M-Ras-GTP. Its association with MRAS inhibits Rap1 activation ["None"] ["None"] 1WGY D87467 40788937 RAPGEF5 Chromosome:7 7p15.3 RAPGEF5 HGNC:16862 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3777 CDBP03776 Rab effector Noc2 Q9UNE2 RPH3L_HUMAN false false Metal Binding Homo_sapiens RPH3AL 315 34463.7 9.23 Involved in Rab GTPase binding Rab GTPase effector involved in the late steps of regulated exocytosis, both in endocrine and exocrine cells. Acts as a potential RAB3B effector protein in epithelial cells ["None"] ["None"] AF129812 5596433 RPH3AL Chromosome:1 17p13.3 RPH3AL HGNC:10296 true 2020-06-12T23:07:18Z 2020-07-28T02:32:04Z 0 1 0 3778 CDBP03777 Ras-related GTP-binding protein A Q7L523 RRAGA_HUMAN false false Enzyme Homo_sapiens RRAGA 313 36565.8 7.81 Involved in GTP binding Involved in the RCC1/Ran-GTPase pathway. May play a direct role in a TNF-alpha signaling pathway leading to induction of cell death. May alternatively act as a cellular target for adenovirus E3-14.7K, an inhibitor of TNF-alpha functions, thereby affecting cell death. Has guanine nucleotide-binding activity but undetectable intrinsic GTPase activity ["None"] ["None"] AK313023 189053606 RRAGA Chromosome:9 9p22.1 RRAGA HGNC:16963 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3779 CDBP03778 Ras-related GTP-binding protein B Q5VZM2 RRAGB_HUMAN false false Enzyme Homo_sapiens RRAGB 374 43250.0 6.13 Involved in GTP binding Involved in the RCC1/Ran-GTPase pathway. Has guanine nucleotide-binding activity but undetectable intrinsic GTPase activity ["None"] ["None"] NM_016656.3 46249397 RRAGB RRAGB HGNC:19901 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3780 CDBP03779 Ras-related GTP-binding protein C Q9HB90 RRAGC_HUMAN false false Enzyme Homo_sapiens RRAGC 399 44223.5 4.72 Involved in GTP binding Has guanine nucleotide-binding activity but weak intrinsic GTPase activity ["None"] ["None"] AF272035 11181618 RRAGC Chromosome:1 1p34 RRAGC HGNC:19902 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3781 CDBP03780 Ras-related GTP-binding protein D Q9NQL2 RRAGD_HUMAN false false Enzyme Homo_sapiens RRAGD 400 45587.2 4.52 Involved in GTP binding Has guanine nucleotide-binding activity but lacks intrinsic GTPase activity ["None"] ["None"] AF272036 11181620 RRAGD Chromosome:6 6q15-q16 RRAGD HGNC:19903 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3782 CDBP03781 Ras-related protein R-Ras2 P62070 RRAS2_HUMAN false false Enzyme Homo_sapiens RRAS2 204 23399.4 5.81 Involved in GTP binding It is a plasma membrane-associated GTP-binding protein with GTPase activity. Might transduce growth inhibitory signals across the cell membrane, exerting its effect through an effector shared with the Ras proteins but in an antagonistic fashion ["None"] ["None"] NM_012250.5 21361416 RRAS2 Chromosome:1 11p15.2 RRAS2 HGNC:17271 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3783 CDBP03782 Rhotekin Q9BST9 RTKN_HUMAN false false Enzyme Homo_sapiens RTKN 563 62666.8 7.47 Involved in signal transduction Mediates Rho signaling to activate NF-kappa-B and may confer increased resistance to apoptosis to cells in gastric tumorigenesis. May play a novel role in the organization of septin structures ["None"] ["None"] NM_001015055.1 62739179 RTKN Chromosome:2 2p13.1 RTKN HGNC:10466 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3784 CDBP03783 RUN and FYVE domain-containing protein 1 Q96T51 RUFY1_HUMAN false false Metal Binding Homo_sapiens RUFY1 708 79817.2 5.52 Involved in zinc ion binding Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate and participates in early endosomal trafficking ["None"] ["None"] NM_025158.3 94721336 RUFY1 Chromosome:5 5q35.3 RUFY1 HGNC:19760 true 2020-06-12T23:07:18Z 2020-07-28T02:32:04Z 0 1 0 3785 CDBP03784 RUN domain-containing protein 3A Q59EK9 RUN3A_HUMAN false false Enzyme Homo_sapiens RUNDC3A 446 49746.5 4.94 Involved in small GTPase regulator activity May act as an effector of RAP2A in neuronal cells ["None"] ["None"] NM_001144825.1 221307578 RUNDC3A Chromosome:1 17q21.31 RUNDC3A HGNC:16984 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3786 CDBP03785 GTP-binding protein SAR1a Q9NR31 SAR1A_HUMAN false false Enzyme Homo_sapiens SAR1A 198 22366.6 6.68 Involved in GTP binding Involved in transport from the endoplasmic reticulum to the Golgi apparatus. Required to maintain SEC16A localization at discrete locations on the ER membrane perhaps by preventing its dissociation. SAR1A-GTP-dependent assembly of SEC16A on the ER membrane forms an organized scaffold defining endoplasmic reticulum exit sites (ERES) ["None"] ["None"] 1F6B AF261717 8926205 SAR1A Chromosome:1 10q22.1 SAR1A HGNC:10534 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3787 CDBP03786 Ribosome maturation protein SBDS Q9Y3A5 SBDS_HUMAN false false Enzyme Homo_sapiens SBDS 250 28763.3 9.15 Involved in ribosome biogenesis May be involved in the biogenesis of the 60S ribosomal subunit and translational activation of ribosomes. May trigger the GTP-dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export ["None"] ["None"] AF151855 4929663 SBDS Chromosome:7 7q11.21 SBDS HGNC:19440 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3788 CDBP03787 Protein transport protein Sec16A O15027 SC16A_HUMAN false false Enzyme Homo_sapiens SEC16A 2179 233515.1 5.37 Involved in protein transport Defines endoplasmic reticulum exit sites (ERES) and is required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus. SAR1A-GTP-dependent assembly of SEC16A on the ER membrane forms an organized scaffold defining an ERES. Required for normal transitional endoplasmic reticulum (tER) organization ["None"] ["None"] 124378039 SEC16A Chromosome:9 9q34.3 SEC16A HGNC:29006 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3789 CDBP03788 Sterol regulatory element-binding protein cleavage-activating protein Q12770 SCAP_HUMAN false false Enzyme Homo_sapiens SCAP 1279 139727.6 6.85 Involved in unfolded protein binding Escort protein required for cholesterol as well as lipid homeostasis. Regulates export of the SCAP/SREBF complex from the ER upon low cholesterol. Formation of a ternary complex with INSIG at high sterol concentrations leads to masking of an ER-export signal in SCAP and retention of the complex in the ER. Low sterol concentrations trigger release of INSIG, a conformational change in the SSC domain of SCAP, unmasking of the ER export signal, recruitment into COPII-coated vesicles, transport to the Golgi complex, proteolytic cleavage of SREBF in the Golgi, release of the transcription factor fragment of SREBF from the membrane, its import into the nucleus and up-regulation of LDLR, INSIG1 and the mevalonate pathway ["None"] ["19-39", "280-300", "313-333", "345-365", "402-422", "424-444", "519-539", "710-730"] NM_012235.2 66932902 SCAP Chromosome:3 3p21.31 SCAP HGNC:30634 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3790 CDBP03789 Septin-10 Q9P0V9 SEP10_HUMAN false false Enzyme Homo_sapiens SEPT10 454 52592.7 6.79 Involved in GTP binding Filament-forming cytoskeletal GTPase. May play a role in cytokinesis (Potential) ["None"] ["None"] AC140485 62988755 SEPT10 Chromosome:2 2q13 SEPT10 HGNC:14349 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3791 CDBP03790 SH3 domain-containing guanine exchange factor Q96DR7 SGEF_HUMAN false false Enzyme Homo_sapiens SGEF 871 97358.7 9.38 Involved in Rho guanyl-nucleotide exchange factor activity Activates RhoG GTPase by promoting the exchange of GDP by GTP. Required for the formation of membrane ruffles during macropinocytosis. Required for the formation of cup-like structures during trans-endothelial migration of leukocytes. In case of Salmonella enterica infection, activated by SopB, which induces cytoskeleton rearrangements and promotes bacterial entry ["None"] ["None"] NM_015595.3 194473700 SGEF ARHGEF26 HGNC:24490 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3792 CDBP03791 Putative E3 ubiquitin-protein ligase SH3RF1 Q7Z6J0 SH3R1_HUMAN true false Enzyme Homo_sapiens SH3RF1 888 93128.1 8.66 Involved in protein binding Might act as an E3 ubiquitin-protein ligase, or as part of E3 complex, which accepts ubiquitin from specific E2 ubiquitin- conjugating enzymes such as UBE2D1 or UBE2N and then transfers it to substrates. In the absence of an external substrate, it can catalyze self-ubiquitination ["None"] ["None"] NM_020870.3 51988887 SH3RF1 Chromosome:4 4q32.3 SH3RF1 HGNC:17650 true 2020-06-12T23:07:18Z 2020-07-28T02:29:06Z 0 1 0 3793 CDBP03792 Son of sevenless homolog 1 Q07889 SOS1_HUMAN false false Enzyme Homo_sapiens SOS1 1333 152462.7 6.83 Involved in Rho guanyl-nucleotide exchange factor activity Promotes the exchange of Ras-bound GDP by GTP ["None"] ["None"] 1XD4 AK290228 158261479 SOS1 Chromosome:2 2p21 SOS1 HGNC:11187 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3794 CDBP03793 Son of sevenless homolog 2 Q07890 SOS2_HUMAN false false Enzyme Homo_sapiens SOS2 1332 152977.7 6.84 Involved in Rho guanyl-nucleotide exchange factor activity Promotes the exchange of Ras-bound GDP by GTP ["None"] ["None"] BC117261 109659010 SOS2 Chromosome:1 14q21 SOS2 HGNC:11188 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3795 CDBP03794 Sperm-associated antigen 1 Q07617 SPAG1_HUMAN false false Enzyme Homo_sapiens SPAG1 926 103637.5 6.85 Involved in binding Plays a role in fertilization. Binds GTP and has GTPase activity ["None"] ["None"] NM_003114.3 27262636 SPAG1 Chromosome:8 8q22.2 SPAG1 HGNC:11212 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3796 CDBP03795 Protein sprouty homolog 4 Q9C004 SPY4_HUMAN false false Enzyme Homo_sapiens SPRY4 299 32541.0 7.92 Involved in multicellular organismal development Suppresses the insulin receptor and EGFR-transduced MAPK signaling pathway, but does not inhibit MAPK activation by a constitutively active mutant Ras. Probably impairs the formation of GTP-Ras ["None"] ["None"] NM_001127496.1 188595697 SPRY4 Chromosome:5 5q31.3 SPRY4 HGNC:15533 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3797 CDBP03796 Secretion-regulating guanine nucleotide exchange factor Q9UGK8 SRGEF_HUMAN false false Enzyme Homo_sapiens SERGEF 458 48981.0 6.44 Involved in protein binding Probable guanine nucleotide exchange factor (GEF), which may be involved in the secretion process ["None"] ["None"] AJ243950 6434157 SERGEF Chromosome:1 11p14.3 SERGEF HGNC:17499 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3798 CDBP03797 Signal recognition particle 54 kDa protein P61011 SRP54_HUMAN false false Enzyme Homo_sapiens SRP54 504 55704.4 9.19 Involved in nucleotide binding Binds to the signal sequence of presecretory protein when they emerge from the ribosomes and transfers them to TRAM (translocating chain-associating membrane protein) ["None"] ["None"] AK312853 189053540 SRP54 Chromosome:1 14q13.2 SRP54 HGNC:11301 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3799 CDBP03798 Signal recognition particle receptor subunit alpha P08240 SRPR_HUMAN false false Receptor Homo_sapiens SRPR 638 69810.6 9.46 Involved in nucleotide binding Component of the SRP (signal recognition particle) receptor. Ensures, in conjunction with the signal recognition particle, the correct targeting of the nascent secretory proteins to the endoplasmic reticulum membrane system ["None"] ["None"] AK312377 189065456 SRPR Chromosome:1 11q24.2 SRPR HGNC:11307 true 2020-06-12T23:07:18Z 2020-07-28T02:29:06Z 1 0 0 3800 CDBP03799 Sex-determining region Y protein Q05066 SRY_HUMAN false false Transcription Factor Homo_sapiens SRY 204 23884.0 9.91 Involved in DNA binding Transcriptional regulator that controls a genetic switch in male development. It is necessary and sufficient for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells. In male adult brain involved in the maintenance of motor functions of dopaminergic neurons. Involved in different aspects of gene regulation including promoter activation or repression. Promotes DNA bending. SRY HMG box recognizes DNA by partial intercalation in the minor groove. Also involved in pre-mRNA splicing. Binds to the DNA consensus sequence 5'-[AT]AACAA[AT]-3' ["None"] ["None"] 1J46 BC074923 49902356 SRY SRY HGNC:11311 true 2020-06-12T23:07:18Z 2020-07-28T02:32:06Z 0 0 1 3801 CDBP03800 Double-stranded RNA-binding protein Staufen homolog 2 Q9NUL3 STAU2_HUMAN false false Enzyme Homo_sapiens STAU2 570 62640.1 10.24 Involved in double-stranded RNA binding RNA-binding protein required for the microtubule- dependent transport of neuronal RNA from the cell body to the dendrite. As protein synthesis occurs within the dendrite, the localization of specific mRNAs to dendrites may be a prerequisite for neurite outgrowth and plasticity at sites distant from the cell body ["None"] ["None"] 1UHZ AF459097 23507039 STAU2 Chromosome:8 8q21.11 STAU2 HGNC:11371 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3802 CDBP03801 Syntaxin-binding protein 1 P61764 STXB1_HUMAN false false Enzyme Homo_sapiens STXBP1 594 67568.0 6.96 Involved in vesicle docking involved in exocytosis May participate in the regulation of synaptic vesicle docking and fusion, possibly through interaction with GTP-binding proteins. Essential for neurotransmission and binds syntaxin, a component of the synaptic vesicle fusion machinery probably in a 1:1 ratio. Can interact with syntaxins 1, 2, and 3 but not syntaxin 4. May play a role in determining the specificity of intracellular fusion reactions ["None"] ["None"] 1DN1 AF004562 3041873 STXBP1 Chromosome:9 9q34.1 STXBP1 HGNC:11444 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3803 CDBP03802 Synaptotagmin-like protein 1 Q8IYJ3 SYTL1_HUMAN false false Enzyme Homo_sapiens SYTL1 562 61856.5 5.16 Involved in Rab GTPase binding May play a role in vesicle trafficking. Binds phosphatidylinositol 3,4,5-triphosphate. Acts as a RAB27A effector protein and may play a role in cytotoxic granule exocytosis in lymphocytes ["None"] ["None"] NM_001193308.1 300863107 SYTL1 Chromosome:1 1p36.11 SYTL1 HGNC:15584 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3804 CDBP03803 Synaptotagmin-like protein 2 Q9HCH5 SYTL2_HUMAN false false Metal Binding Homo_sapiens SYTL2 934 104929.0 8.21 Involved in Rab GTPase binding Isoform 1 acts as a RAB27A effector protein and plays a role in cytotoxic granule exocytosis in lymphocytes. It is required for cytotoxic granule docking at the immunologic synapse. Isoform 4 binds phosphatidylserine (PS) and phosphatidylinositol- 4,5-bisphosphate (PIP2) and promotes the recruitment of glucagon- containing granules to the cell membrane in pancreatic alpha cells. Binding to PS is inhibited by Ca(2+) while binding to PIP2 is Ca(2+) insensitive ["None"] ["None"] NM_001162951.1 244790013 SYTL2 Chromosome:1 11q14 SYTL2 HGNC:15585 true 2020-06-12T23:07:18Z 2020-07-28T02:32:04Z 0 1 0 3805 CDBP03804 Synaptotagmin-like protein 5 Q8TDW5 SYTL5_HUMAN false false Metal Binding Homo_sapiens SYTL5 730 81522.3 9.11 Involved in Rab GTPase binding May act as Rab effector protein and play a role in vesicle trafficking. Binds phospholipids ["None"] ["None"] AB080222 20126681 SYTL5 SYTL5 HGNC:15589 true 2020-06-12T23:07:18Z 2020-07-28T02:32:04Z 0 1 0 3806 CDBP03805 Tubulin alpha-1A chain Q71U36 TBA1A_HUMAN false false Enzyme Homo_sapiens TUBA1A 451 50135.2 4.7 Involved in structural molecule activity Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha-chain ["None"] ["None"] 1SA1 AF141347 TUBA1A Chromosome:1 12q13.12 TUBA1A HGNC:20766 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3807 CDBP03806 Tubulin alpha-1B chain P68363 TBA1B_HUMAN false false Enzyme Homo_sapiens TUBA1B 451 50151.2 4.7 Involved in structural molecule activity Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha-chain ["None"] ["None"] 1SA1 AF081484 3420929 TUBA1B Chromosome:1 12q13.12 TUBA1B HGNC:18809 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3808 CDBP03807 Tubulin alpha-1C chain Q9BQE3 TBA1C_HUMAN false false Enzyme Homo_sapiens TUBA1C 449 49894.9 4.73 Involved in structural molecule activity Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha-chain ["None"] ["None"] 1SA1 BC004949 13436317 TUBA1C Chromosome:1 12q13.12 TUBA1C HGNC:20768 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3809 CDBP03808 Tubulin alpha-3C/D chain Q13748 TBA3C_HUMAN false false Enzyme Homo_sapiens TUBA3C 450 49959.1 4.74 Involved in structural molecule activity Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha-chain ["None"] ["None"] 1SA1 NM_006001.1 17921993 TUBA3C Chromosome:1 13q11 TUBA3C HGNC:12408 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3810 CDBP03809 Tubulin alpha-3E chain Q6PEY2 TBA3E_HUMAN false false Enzyme Homo_sapiens TUBA3E 450 49858.1 4.77 Involved in structural molecule activity Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha-chain ["None"] ["None"] 1SA1 BC057811 34785523 TUBA3E Chromosome:2 2q21.1 TUBA3E HGNC:20765 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3811 CDBP03810 Tubulin alpha-4A chain P68366 TBA4A_HUMAN false false Enzyme Homo_sapiens TUBA4A 448 49924.0 4.69 Involved in structural molecule activity Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha-chain ["None"] ["None"] 1SA1 BT006731 TUBA4A Chromosome:2 2q35 TUBA4A HGNC:12407 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3812 CDBP03811 Tubulin alpha-8 chain Q9NY65 TBA8_HUMAN false false Enzyme Homo_sapiens TUBA8 449 50093.1 4.7 Involved in structural molecule activity Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha-chain ["None"] ["None"] AJ245922 7594610 TUBA8 Chromosome:2 22q11.1 TUBA8 HGNC:12410 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3813 CDBP03812 Tubulin alpha chain-like 3 A6NHL2 TBAL3_HUMAN false false Enzyme Homo_sapiens TUBAL3 446 49908.3 5.96 Involved in structural molecule activity Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha-chain ["None"] ["None"] AK025318 TUBAL3 Chromosome:1 10p15.1 TUBAL3 HGNC:23534 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3814 CDBP03813 Tubulin beta-1 chain Q9H4B7 TBB1_HUMAN false false Enzyme Homo_sapiens TUBB1 451 50326.6 4.82 Involved in structural molecule activity Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha-chain ["None"] ["None"] AJ292757 11230445 TUBB1 Chromosome:2 20q13.32 TUBB1 HGNC:16257 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3815 CDBP03814 Tubulin beta-2A chain Q13885 TBB2A_HUMAN false false Enzyme Homo_sapiens TUBB2A 445 49906.7 4.52 Involved in structural molecule activity Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha-chain ["None"] ["None"] 1SA1 X79535 496887 TUBB2A Chromosome:6 6p25 TUBB2A HGNC:12412 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3816 CDBP03815 Tubulin beta-2B chain Q9BVA1 TBB2B_HUMAN false false Enzyme Homo_sapiens TUBB2B 445 49952.8 4.52 Involved in structural molecule activity Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha-chain. TUBB2B is implicated in neuronal migration ["None"] ["None"] 1SA1 BT019930 TUBB2B Chromosome:6 6p25 TUBB2B HGNC:30829 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3817 CDBP03816 Tubulin beta-8 chain Q3ZCM7 TBB8_HUMAN false false Enzyme Homo_sapiens TUBB8 444 49775.7 4.52 Involved in structural molecule activity Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha-chain ["None"] ["None"] 1SA1 AF355127 16974658 TUBB8 Chromosome:1 10p15.3 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3818 CDBP03817 Tubulin beta-8 chain B A6NNZ2 TBB8B_HUMAN false false Enzyme Homo_sapiens 444 49572.3 4.49 Involved in structural molecule activity Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha-chain ["None"] ["None"] NM_177987 42558279 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3819 CDBP03818 Tubulin-specific chaperone D Q9BTW9 TBCD_HUMAN false false Enzyme Homo_sapiens TBCD 1192 132598.5 6.11 Involved in binding Tubulin-folding protein; involved in the first step of the tubulin folding pathway. Modulates microtubule dynamics by capturing GTP-bound beta-tubulin (TUBB) ["None"] ["None"] NM_005993.4 41350333 TBCD Chromosome:1 17q25.3 TBCD HGNC:11581 true 2020-06-12T23:07:18Z 2020-07-28T02:34:05Z 0 0 0 3820 CDBP03819 T-lymphoma invasion and metastasis-inducing protein 1 Q13009 TIAM1_HUMAN false false Receptor Homo_sapiens TIAM1 1591 177506.5 6.58 Involved in Rho guanyl-nucleotide exchange factor activity Modulates the activity of RHO-like proteins and connects extracellular signals to cytoskeletal activities. Acts as a GDP- dissociation stimulator protein that stimulates the GDP-GTP exchange activity of RHO-like GTPases and activates them. Activates RAC1, CDC42, and to a lesser extent RHOA ["None"] ["None"] 1FOE NM_003253.2 115583670 TIAM1 Chromosome:2 21q22.1|21q22.11 TIAM1 HGNC:11805 true 2020-06-12T23:07:18Z 2020-07-28T02:32:20Z 1 0 0 3821 CDBP03820 T-lymphoma invasion and metastasis-inducing protein 2 Q8IVF5 TIAM2_HUMAN false false Receptor Homo_sapiens TIAM2 1701 190101.0 7.21 Involved in Rho guanyl-nucleotide exchange factor activity Modulates the activity of RHO-like proteins and connects extracellular signals to cytoskeletal activities. Acts as a GDP- dissociation stimulator protein that stimulates the GDP-GTP exchange activity of RHO-like GTPases and activates them. Mediates extracellular laminin signals to activate Rac1, contributing to neurite growth. Involved in lamellipodial formation and advancement of the growth cone of embryonic hippocampal neurons. Promotes migration of neurons in the cerebral cortex. When overexpressed, induces membrane ruffling accompanied by the accumulation of actin filaments along the altered plasma membrane. Activates specifically RAC1, but not CDC42 and RHOA ["None"] ["None"] NM_012454.3 58331187 TIAM2 Chromosome:6 6q25.2 TIAM2 HGNC:11806 true 2020-06-12T23:07:18Z 2020-07-28T02:32:20Z 1 0 0 3822 CDBP03821 Transportin-1 Q92973 TNPO1_HUMAN false true Transporter Homo_sapiens TNPO1 898 102354.0 4.59 Involved in binding Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Involved in nuclear import of M9- containing proteins. In vitro, binds directly to the M9 region of the heterogeneous nuclear ribonucleoproteins (hnRNP), A1 and A2 and mediates their nuclear import. Appears also to be involved in hnRNP A1/A2 nuclear export. Mediates the nuclear import of ribosomal proteins RPL23A, RPS7 and RPL5. Binds to a beta-like import receptor binding (BIB) domain of RPL23A. In vitro, mediates nuclear import of H2A, H2B, H3 and H4 histones, and SRP19. In case of HIV-1 infection, binds and mediates the nuclear import of HIV-1 Rev ["None"] ["None"] 1QBK NM_002270.3 133925811 TNPO1 Chromosome:5 5q13.2 TNPO1 HGNC:6401 true 2020-06-12T23:07:18Z 2020-07-28T02:32:12Z 0 0 0 3823 CDBP03822 Transportin-2 O14787 TNPO2_HUMAN false true Transporter Homo_sapiens TNPO2 897 101387.1 4.63 Involved in binding Probably functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus ["None"] ["None"] NM_001136196.1 209969838 TNPO2 Chromosome:1 19p13.2 TNPO2 HGNC:19998 true 2020-06-12T23:07:18Z 2020-07-28T02:32:12Z 0 0 0 3824 CDBP03823 Tubulin polymerization-promoting protein O94811 TPPP_HUMAN false false Enzyme Homo_sapiens TPPP 219 23693.5 10.12 Involved in calcium ion binding May play a role in the polymerization of tubulin into microtubules, microtubule bundling and the stabilization of existing microtubules, thus maintaining the integrity of the microtubule network. May play a role in mitotic spindle assembly and nuclear envelope breakdown ["None"] ["None"] AB017016 4062852 TPPP Chromosome:5 5p15.3 TPPP HGNC:24164 true 2020-06-12T23:07:18Z 2020-07-28T02:34:06Z 0 0 0 3825 CDBP03824 Triple functional domain protein O75962 TRIO_HUMAN false false Enzyme Homo_sapiens TRIO 3097 346897.2 6.32 Involved in Rho guanyl-nucleotide exchange factor activity Promotes the exchange of GDP by GTP. Together with leukocyte antigen-related (LAR) protein, it could play a role in coordinating cell-matrix and cytoskeletal rearrangements necessary for cell migration and cell growth ["None"] ["None"] 1NTY NM_007118.2 45439359 TRIO Chromosome:5 5p15.2 TRIO HGNC:12303 true 2020-06-12T23:07:18Z 2020-07-28T02:34:06Z 0 0 0 3826 CDBP03825 116 kDa U5 small nuclear ribonucleoprotein component Q15029 U5S1_HUMAN false false Enzyme Homo_sapiens EFTUD2 972 109434.8 4.6 Involved in GTPase activity Component of the U5 snRNP complex required for pre-mRNA splicing ["None"] ["None"] BC002360 12803113 EFTUD2 Chromosome:1 17q21.31 EFTUD2 HGNC:30858 true 2020-06-12T23:07:18Z 2020-07-28T02:34:06Z 0 0 0 3827 CDBP03826 Guanine nucleotide exchange factor VAV3 Q9UKW4 VAV3_HUMAN false false Enzyme Homo_sapiens VAV3 847 97775.1 7.06 Involved in Rho guanyl-nucleotide exchange factor activity Exchange factor for GTP-binding proteins RhoA, RhoG and, to a lesser extent, Rac1. Binds physically to the nucleotide-free states of those GTPases. Plays an important role in angiogenesis. Its recruitement by phosphorylated EPHA2 is critical for EFNA1- induced RAC1 GTPase activation and vascular endothelial cell migration and assembly ["None"] ["None"] AF067817 3928847 VAV3 Chromosome:1 1p13.3 VAV3 HGNC:12659 true 2020-06-12T23:07:18Z 2020-07-28T02:34:06Z 0 0 0 3828 CDBP03827 WD repeat-containing protein 44 Q5JSH3 WDR44_HUMAN false false Enzyme Homo_sapiens WDR44 913 101365.4 5.1 Downstream effector for RAB11. May be involved in vesicle recycling ["None"] ["None"] NM_019045.4 45238858 WDR44 WDR44 HGNC:30512 true 2020-06-12T23:07:18Z 2020-07-28T02:34:06Z 0 0 0 3829 CDBP03828 Exportin-1 O14980 XPO1_HUMAN false true Transporter Homo_sapiens XPO1 1071 123385.0 5.98 Involved in binding Mediates the nuclear export of cellular proteins (cargos) bearing a leucine-rich nuclear export signal (NES) and of RNAs. In the nucleus, in association with RANBP3, binds cooperatively to the NES on its target protein and to the GTPase RAN in its active GTP-bound form (Ran-GTP). Docking of this complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of an nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the cargo from the export receptor. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Involved in U3 snoRNA transport from Cajal bodies to nucleoli. Binds to late precursor U3 snoRNA bearing a TMG cap. Several viruses, among them HIV-1, HTLV-1 and influenza A use it to export their unspliced or incompletely spliced RNAs out of the nucleus. Interacts with, and mediates the nuclear export of HIV-1 Rev and HTLV-1 Rex proteins. Involved in HTLV-1 Rex multimerization ["None"] ["None"] 1W9C AC016727 62822401 XPO1 Chromosome:2 2p16 XPO1 HGNC:12825 true 2020-06-12T23:07:18Z 2020-07-28T02:32:12Z 0 0 0 3830 CDBP03829 Exportin-2 P55060 XPO2_HUMAN false true Enzyme Homo_sapiens CSE1L 971 110415.5 5.55 Involved in binding Export receptor for importin-alpha. Mediates importin- alpha re-export from the nucleus to the cytoplasm after import substrates (cargos) have been released into the nucleoplasm. In the nucleus binds cooperatively to importin-alpha and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the importin-alpha from the export receptor. CSE1L/XPO2 then return to the nuclear compartment and mediate another round of transport. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus ["None"] ["None"] NM_001316.2 29029559 CSE1L Chromosome:2 20q13 CSE1L HGNC:2431 true 2020-06-12T23:07:18Z 2020-07-28T02:34:06Z 1 0 0 3831 CDBP03830 Exportin-4 Q9C0E2 XPO4_HUMAN false false Enzyme Homo_sapiens XPO4 1151 130138.1 4.69 Involved in binding Mediates the nuclear export of proteins (cargos) with broad substrate specificity. In the nucleus binds cooperatively to its cargo and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the cargo from the export receptor. XPO4 then return to the nuclear compartment and mediate another round of transport. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus ["None"] ["None"] NM_022459.4 148886661 XPO4 Chromosome:1 13q11 XPO4 HGNC:17796 true 2020-06-12T23:07:18Z 2020-07-28T02:34:06Z 0 0 0 3832 CDBP03831 Exportin-5 Q9HAV4 XPO5_HUMAN false false Enzyme Homo_sapiens XPO5 1204 136309.9 5.55 Involved in binding Mediates the nuclear export of micro-RNA precursors, which form short hairpins. Also mediates the nuclear export of synthetic short hairpin RNAs used for RNA interference, and adenovirus VA1 dsRNA. In some circumstances can also mediate the nuclear export of deacylated and aminoacylated tRNAs. Specifically recognizes dsRNAs that lack a 5'-overhang in a sequence- independent manner, have only a short 3'-overhang, and that have a double-stranded length of at least 15 base-pairs. Binding is dependent on Ran-GTP ["None"] ["None"] NM_020750.2 22748937 XPO5 Chromosome:6 6p21.1 XPO5 HGNC:17675 true 2020-06-12T23:07:18Z 2020-07-28T02:34:06Z 0 0 0 3833 CDBP03832 Exportin-7 Q9UIA9 XPO7_HUMAN false true Transporter Homo_sapiens XPO7 1087 123906.1 6.27 Involved in binding Mediates the nuclear export of proteins (cargos) with broad substrate specificity. In the nucleus binds cooperatively to its cargo and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the cargo from the export receptor. XPO7 then return to the nuclear compartment and mediate another round of transport. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus ["None"] ["None"] NM_015024.4 154448892 XPO7 Chromosome:8 8p21 XPO7 HGNC:14108 true 2020-06-12T23:07:18Z 2020-07-28T02:32:12Z 0 0 0 3834 CDBP03833 Exportin-T O43592 XPOT_HUMAN false true Transporter Homo_sapiens XPOT 962 109963.2 5.05 Involved in binding Mediates the nuclear export of aminoacylated tRNAs. In the nucleus binds to tRNA and to the GTPase Ran in its active GTP- bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the tRNA from the export receptor. XPOT then return to the nuclear compartment and mediate another round of transport. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus ["None"] ["None"] NM_007235.3 8051636 XPOT Chromosome:1 12q14.2 XPOT HGNC:12826 true 2020-06-12T23:07:18Z 2020-07-28T02:32:12Z 0 0 0 3835 CDBP03834 Protein XRP2 O75695 XRP2_HUMAN false false Enzyme Homo_sapiens RP2 350 39640.7 4.73 Involved in cell morphogenesis Stimulates the GTPase activity of tubulin, but does not enhance tubulin heterodimerization. Acts as guanine nucleotide dissociation inhibitor for ARL3 ["None"] ["None"] AJ007590 3550283 RP2 RP2 HGNC:10274 true 2020-06-12T23:07:18Z 2020-07-28T02:34:06Z 0 0 0 3836 CDBP03835 Putative tubulin beta chain-like protein ENSP00000290377 A6NKZ8 YI016_HUMAN false false Enzyme Homo_sapiens 372 41774.7 4.5 Involved in structural molecule activity Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha-chain ["None"] ["None"] NM_001164154 255918171 true 2020-06-12T23:07:18Z 2020-07-28T02:34:06Z 0 0 0 3837 CDBP03836 ATP-binding cassette sub-family B member 6, mitochondrial Q9NP58 ABCB6_HUMAN false true Transporter Homo_sapiens ABCB6 842 93884.7 8.61 Involved in ATP binding Binds heme and porphyrins and functions in their ATP- dependent uptake into the mitochondria. Plays a crucial role in heme synthesis ["None"] ["27-47", "73-93", "107-127", "148-168", "186-206", "265-285", "376-396", "409-431", "502-522", "530-550"] AB039371 8547018 ABCB6 Chromosome:2 2q36 ABCB6 HGNC:47 true 2020-06-12T23:07:18Z 2020-07-28T02:32:12Z 0 0 0 3838 CDBP03837 ATP-binding cassette sub-family B member 7, mitochondrial O75027 ABCB7_HUMAN false true Transporter Homo_sapiens ABCB7 752 82640.6 9.79 Involved in ATP binding Could be involved in the transport of heme from the mitochondria to the cytosol. Plays a central role in the maturation of cytosolic iron-sulfur (Fe/S) cluster-containing proteins ["None"] ["141-161", "186-206", "260-280", "291-311", "383-403", "410-430"] AB005289 3228279 ABCB7 ABCB7 HGNC:48 true 2020-06-12T23:07:18Z 2020-07-28T02:32:12Z 0 0 0 3839 CDBP03838 ATP-binding cassette sub-family B member 10, mitochondrial Q9NRK6 ABCBA_HUMAN false true Transporter Homo_sapiens ABCB10 738 79146.9 10.37 Involved in ATP binding May mediate critical mitochondrial transport functions related to heme biosynthesis ["None"] ["171-191", "216-236", "313-333", "408-428", "431-451"] NM_012089.2 171184400 ABCB10 Chromosome:1 1q42.13 ABCB10 HGNC:41 true 2020-06-12T23:07:18Z 2020-07-28T02:32:12Z 0 0 0 3840 CDBP03839 Cytochrome P450 27C1 Q4G0S4 C27C1_HUMAN false false Metal Binding Homo_sapiens CYP27C1 372 42632.1 9.6 Involved in monooxygenase activity ["None"] ["None"] NM_001001665.3 167466231 CYP27C1 Chromosome:2 2q14.3 CYP27C1 HGNC:33480 true 2020-06-12T23:07:18Z 2020-07-28T02:32:04Z 0 1 0 3841 CDBP03840 Cytochrome b561 domain-containing protein 1 Q8N8Q1 C56D1_HUMAN false false Enzyme Homo_sapiens CYB561D1 229 25423.4 10.33 Involved in metal ion binding ["None"] ["25-45", "54-74", "92-112", "129-149", "170-190", "194-214"] AK096354 21755828 CYB561D1 Chromosome:1 1p13.3 CYB561D1 HGNC:26804 true 2020-06-12T23:07:18Z 2020-07-28T02:34:06Z 0 0 0 3842 CDBP03841 Cytochrome b5 domain-containing protein 1 Q6P9G0 CB5D1_HUMAN false false Metal Binding Homo_sapiens CYB5D1 228 26688.8 5.34 Involved in heme binding ["None"] ["None"] NM_144607.4 40255060 CYB5D1 Chromosome:1 17p13.1 CYB5D1 HGNC:26516 true 2020-06-12T23:07:18Z 2020-07-28T02:32:04Z 0 1 0 3843 CDBP03842 Neuferricin Q8WUJ1 NEUFC_HUMAN false false Metal Binding Homo_sapiens CYB5D2 264 28689.4 8.47 Involved in heme binding Heme-binding protein which promotes neuronal but not astrocyte differentiation ["1-22"] ["None"] AK172844 47077880 CYB5D2 Chromosome:1 17p13.2 CYB5D2 HGNC:28471 true 2020-06-12T23:07:18Z 2020-07-28T02:32:04Z 0 1 0 3844 CDBP03843 Hsp90 co-chaperone Cdc37 Q16543 CDC37_HUMAN false false Enzyme Homo_sapiens CDC37 378 44468.0 4.9 Involved in heat shock protein binding Co-chaperone that binds to numerous kinases and promotes their interaction with the Hsp90 complex, resulting in stabilization and promotion of their activity ["None"] ["None"] 1US7 AY864824 57165048 CDC37 Chromosome:1 19p13.2 CDC37 HGNC:1735 true 2020-06-12T23:07:18Z 2020-07-28T02:34:06Z 0 0 0 3845 CDBP03844 Cytochrome c oxidase assembly protein COX15 homolog Q7KZN9 COX15_HUMAN true false Enzyme Homo_sapiens COX15 410 Involved in protein complex assembly May be involved in the biosynthesis of heme A. AF026850 3603230 COX15 COX15 HGNC:2263 true hsa:1355 NP_004367.2:NM_004376.5;NP_510870.1:NM_078470.4 Predominantly found in tissues characterized by high rates of oxidative phosphorylation (OxPhos), including muscle, heart, and brain. 2020-06-12T23:07:18Z 2020-07-28T02:29:09Z 0 0 0 3846 CDBP03845 Cytochrome P450 20A1 Q6UW02 CP20A_HUMAN false false Metal Binding Homo_sapiens CYP20A1 462 52431.955 6.219 Involved in monooxygenase activity NM_177538.2 29171730 CYP20A1 2 2q33.2 CYP20A1 HGNC:20576 true hsa:57404 NP_803882.1:NM_177538.2 Heme group 2020-06-12T23:07:18Z 2020-07-28T02:32:04Z 0 1 0 3847 CDBP03846 Cytochrome P450 26B1 Q9NR63 CP26B_HUMAN false false Metal Binding Homo_sapiens CYP26B1 512 57512.1 8.63 Involved in monooxygenase activity Plays a key role in retinoic acid metabolism. Involved in the specific inactivation of all-trans-retinoic acid (RA). Responsible for generation of several hydroxylated forms of RA, including 4-OH-RA, 4-oxo-RA, and 18-OH-RA ["None"] ["None"] AC007002 62822141 CYP26B1 Chromosome:2 2p13.2 CYP26B1 HGNC:20581 true 2020-06-12T23:07:18Z 2020-07-28T02:32:04Z 0 1 0 3848 CDBP03847 Cytochrome P450 26C1 Q6V0L0 CP26C_HUMAN false false Metal Binding Homo_sapiens CYP26C1 522 57110.4 9.17 Involved in monooxygenase activity Plays a role in retinoic acid metabolism. Acts on retinoids, including all-trans-retinoic acid (RA) and its stereoisomer 9-cis-RA (preferred substrate) ["None"] ["9-29"] AL358613 123227365 CYP26C1 Chromosome:1 10q23.33 CYP26C1 HGNC:20577 true 2020-06-12T23:07:18Z 2020-07-28T02:32:04Z 0 1 0 3849 CDBP03848 Cytochrome P450 2U1 Q7Z449 CP2U1_HUMAN false false Metal Binding Homo_sapiens CYP2U1 544 61986.525 8.391 Involved in monooxygenase activity Catalyzes the hydroxylation of arachidonic acid, docosahexaenoic acid and other long chain fatty acids. May modulate the arachidonic acid signaling pathway and play a role in other fatty acid signaling processes. AY343323 33521674 CYP2U1 4 4q25 CYP2U1 HGNC:20582 true hsa:113612 NP_898898.1:NM_183075.2 Widely expressed with stronger expression in thymus, heart and cerebellum. Heme group 2020-06-12T23:07:18Z 2020-07-28T02:32:04Z 0 1 0 3850 CDBP03849 Cytochrome P450 2W1 Q8TAV3 CP2W1_HUMAN false false Metal Binding Homo_sapiens CYP2W1 490 53843.2 8.81 Involved in monooxygenase activity ["None"] ["None"] BC025761 68086539 CYP2W1 Chromosome:7 7p22.3 CYP2W1 HGNC:20243 true 2020-06-12T23:07:18Z 2020-07-28T02:32:04Z 0 1 0 3851 CDBP03850 Cytochrome P450 4F22 Q6NT55 CP4FN_HUMAN false false Metal Binding Homo_sapiens CYP4F22 531 Involved in monooxygenase activity AK096820 21756395 CYP4F22 CYP4F22 HGNC:26820 true hsa:126410 NP_775754.2:NM_173483.3 Heme group 2020-06-12T23:07:18Z 2020-07-28T02:32:04Z 0 1 0 3852 CDBP03851 Cytochrome P450 4V2 Q6ZWL3 CP4V2_HUMAN false false Metal Binding Homo_sapiens CYP4V2 525 60723.5 7.56 Involved in monooxygenase activity Unknown. May have a role in fatty acid and steroid metabolism ["None"] ["13-33"] NM_207352.3 187960086 CYP4V2 Chromosome:4 4q35.2 CYP4V2 HGNC:23198 true 2020-06-12T23:07:18Z 2020-07-28T02:32:04Z 0 1 0 3853 CDBP03852 Cytochrome b5 type B O43169 CYB5B_HUMAN false false Metal Binding Homo_sapiens CYB5B 146 16332.0 4.61 Involved in heme binding Cytochrome b5 is a membrane bound hemoprotein which function as an electron carrier for several membrane bound oxygenases ["None"] ["119-136"] AB009282 2662291 CYB5B Chromosome:1 16q22.1 CYB5B HGNC:24374 true 2020-06-12T23:07:18Z 2020-07-28T02:32:04Z 0 1 0 3854 CDBP03853 Cytoglobin Q8WWM9 CYGB_HUMAN false false Metal Binding Homo_sapiens CYGB 190 21404.5 6.8 Involved in iron ion binding May have a protective function during conditions of oxidative stress. May be involved in intracellular oxygen storage or transfer ["None"] ["None"] 1V5H AB057769 19910939 CYGB Chromosome:1 17q25.3 CYGB HGNC:16505 true 2020-06-12T23:07:18Z 2020-07-28T02:32:04Z 0 1 0 3855 CDBP03854 Eukaryotic translation initiation factor 2-alpha kinase 1 Q9BQI3 E2AK1_HUMAN true false Enzyme Homo_sapiens EIF2AK1 630 71105.9 5.86 Involved in protein serine/threonine kinase activity Mediates down-regulation of protein synthesis in response to various stress conditions by the phosphorylation of EIF2S1 at 'Ser-48' and 'Ser-51'. Protein synthesis is inhibited at the level of initiation ["None"] ["None"] NM_014413.3 11125768 EIF2AK1 Chromosome:7 7p22 EIF2AK1 HGNC:24921 true 2020-06-12T23:07:18Z 2020-07-28T02:29:10Z 0 0 0 3856 CDBP03855 Fatty acid 2-hydroxylase Q7L5A8 FA2H_HUMAN true false Enzyme Homo_sapiens FA2H 372 42791.0 8.88 Involved in heme binding Required for alpha-hydroxylation of free fatty acids and the formation of alpha-hydroxylated sphingolipids ["None"] ["168-188", "213-233", "268-288", "290-310"] NM_024306.4 205360949 FA2H Chromosome:1 16q23 FA2H HGNC:21197 true 2020-06-12T23:07:18Z 2020-07-28T02:29:10Z 0 1 0 3857 CDBP03856 Fatty acid desaturase 2-like protein A8MWK0 FAD2L_HUMAN true false Enzyme Homo_sapiens 482 56357.8 8.07 Involved in heme binding ["None"] ["168-188", "191-211", "306-326", "344-364"] true 2020-06-12T23:07:18Z 2020-07-28T02:29:10Z 0 1 0 3858 CDBP03857 Fatty acid desaturase 3 Q9Y5Q0 FADS3_HUMAN true false Enzyme Homo_sapiens FADS3 445 51144.6 7.84 Involved in heme binding ["None"] ["134-154", "160-180", "264-284", "307-327"] AF084560 10798853 FADS3 Chromosome:1 11q12-q13.1 FADS3 HGNC:3576 true 2020-06-12T23:07:18Z 2020-07-28T02:29:10Z 0 1 0 3859 CDBP03858 Ferric-chelate reductase 1 Q6ZNA5 FRRS1_HUMAN true false Enzyme Homo_sapiens FRRS1 592 66113.9 7.51 Involved in dopamine beta-monooxygenase activity Ferric-chelate reductases reduce Fe(3+) to Fe(2+) before its transport from the endosome to the cytoplasm ["None"] ["2-22", "372-392", "415-435", "446-466", "491-511", "515-535", "569-589"] 147900821 FRRS1 Chromosome:1 1p21.2 FRRS1 HGNC:27622 true 2020-06-12T23:07:18Z 2020-07-28T02:29:10Z 0 0 0 3860 CDBP03859 Hemoglobin subunit theta-1 P09105 HBAT_HUMAN false false Metal Binding Homo_sapiens HBQ1 142 15507.6 7.74 Involved in iron ion binding ["None"] ["None"] BC056686 34785077 HBQ1 Chromosome:1 16p13.3 HBQ1 HGNC:4833 true 2020-06-12T23:07:18Z 2020-07-28T02:32:04Z 0 1 0 3861 CDBP03860 Hemoglobin subunit zeta P02008 HBAZ_HUMAN false false Metal Binding Homo_sapiens HBZ 142 15636.8 8.51 Involved in iron ion binding The zeta chain is an alpha-type chain of mammalian embryonic hemoglobin, synthesized primarily in the yolk sac ["None"] ["None"] 1JEB M24173 340392 HBZ Chromosome:1 16p13.3 HBZ HGNC:4835 true 2020-06-12T23:07:18Z 2020-07-28T02:32:04Z 0 1 0 3862 CDBP03861 Hemoglobin subunit delta P02042 HBD_HUMAN false false Metal Binding Homo_sapiens HBD 147 16055.4 8.26 Involved in iron ion binding Involved in oxygen transport from the lung to the various peripheral tissues ["None"] ["None"] 1SI4 AY034468 HBD Chromosome:1 11p15.5 HBD HGNC:4829 true 2020-06-12T23:07:19Z 2020-07-28T02:32:04Z 0 1 0 3863 CDBP03862 Hemoglobin subunit epsilon P02100 HBE_HUMAN false false Metal Binding Homo_sapiens HBE1 147 16202.7 9.1 Involved in iron ion binding The epsilon chain is a beta-type chain of early mammalian embryonic hemoglobin ["None"] ["None"] 1A9W CR541912 49456779 HBE1 Chromosome:1 11p15.5 HBE1 HGNC:4830 true 2020-06-12T23:07:19Z 2020-07-28T02:32:04Z 0 1 0 3864 CDBP03863 Hemoglobin subunit mu Q6B0K9 HBM_HUMAN false false Metal Binding Homo_sapiens HBM 141 15618.0 6.62 Involved in iron ion binding ["None"] ["None"] AY698022 51012361 HBM Chromosome:1 16p13.3 HBM HGNC:4826 true 2020-06-12T23:07:19Z 2020-07-28T02:32:05Z 0 1 0 3865 CDBP03864 Heme-binding protein 1 Q9NRV9 HEBP1_HUMAN false false Enzyme Homo_sapiens HEBP1 189 21096.9 5.44 Involved in circadian rhythm May act in the binding of free porphyrinogens that may be present in the cell and thus facilitate removal of these potentially toxic compound. Binds with a high affinity to one molecule of heme or porphyrins. It binds metalloporphyrins, free porphyrins and N-methylprotoporphyrin with similar affinities ["None"] ["None"] AF117615 4886908 HEBP1 Chromosome:1 12p13.1 HEBP1 HGNC:17176 true 2020-06-12T23:07:19Z 2020-07-28T02:34:06Z 0 0 0 3866 CDBP03865 Heme-binding protein 2 Q9Y5Z4 HEBP2_HUMAN false false Enzyme Homo_sapiens HEBP2 205 22875.3 4.27 Can promote mitochondrial permeability transition and facilitate necrotic cell death under different types of stress conditions ["None"] ["None"] AF117616 4886910 HEBP2 Chromosome:6 6q24 HEBP2 HGNC:15716 true 2020-06-12T23:07:19Z 2020-07-28T02:34:06Z 0 0 0 3867 CDBP03866 E3 ubiquitin-protein ligase HERC2 O95714 HERC2_HUMAN true false Enzyme Homo_sapiens HERC2 4834 527223.0 6.22 Involved in protein binding E3 ubiquitin-protein ligase that regulates ubiquitin- dependent retention of repair proteins on damaged chromosomes. Recruited to sites of DNA damage in response to ionizing radiation (IR) and facilitates the assembly of UBE2N and RNF8 promoting DNA damage-induced formation of 'Lys-63'-linked ubiquitin chains. Acts as a mediator of binding specificity between UBE2N and RNF8. Involved in the maintainance of RNF168 levels. E3 ubiquitin- protein ligase that promotes the ubiquitination and proteosomal degradation of XPA which influences the circadian oscillation of DNA excision repair activity ["None"] ["None"] NM_004667.4 126032348 HERC2 Chromosome:1 15q13 HERC2 HGNC:4868 true 2020-06-12T23:07:19Z 2020-07-28T02:29:10Z 0 1 0 3868 CDBP03867 Heme transporter HRG1 Q6P1K1 HRG1_HUMAN false true Transporter Homo_sapiens SLC48A1 146 16419.045 9.644 Involved in transport Heme transporter that regulates intracellular heme availability through the endosomal or lysosomal compartment. NM_017842.2 209862796 SLC48A1 12 12q13.11 SLC48A1 HGNC:26035 true hsa:55652 NP_060312.2:NM_017842.2 Highly expressed in the brain, kidney, heart and skeletal muscle. Moderately expressed in the liver, lung, placenta and small intestine. 2020-06-12T23:07:19Z 2020-07-28T02:32:12Z 0 0 0 3869 CDBP03868 Mitoferrin-1 Q9NYZ2 MFRN1_HUMAN false false Enzyme Homo_sapiens SLC25A37 338 37322.3 9.55 Involved in binding Mitochondrial iron transporter that specifically mediates iron uptake in developing erythroid cells, thereby playing an essential role in heme biosynthesis. The iron delivered into the mitochondria, presumably as Fe(2+), is then probably delivered to ferrochelatase to catalyze Fe(2+) incorporation into protoprophyrin IX to make heme ["None"] ["45-64", "106-125", "143-162", "200-219", "234-253", "301-320"] NM_016612.2 82775373 SLC25A37 Chromosome:8 8p21.2 SLC25A37 HGNC:29786 true 2020-06-12T23:07:19Z 2020-07-28T02:34:06Z 0 0 0 3870 CDBP03869 Mitoferrin-2 Q96A46 MFRN2_HUMAN false false Enzyme Homo_sapiens SLC25A28 364 39271.5 8.69 Involved in binding Mitochondrial iron transporter that mediates iron uptake. Probably required for heme synthesis of hemoproteins and Fe-S cluster assembly in non-erythroid cells. The iron delivered into the mitochondria, presumably as Fe(2+), is then probably delivered to ferrochelatase to catalyze Fe(2+) incorporation into protoprophyrin IX to make heme ["None"] ["72-91", "133-152", "170-189", "227-246", "261-280", "327-346"] NM_031212.3 149274643 SLC25A28 Chromosome:1 10q24.2 SLC25A28 HGNC:23472 true 2020-06-12T23:07:19Z 2020-07-28T02:34:06Z 0 0 0 3871 CDBP03870 Neudesin Q9UMX5 NENF_HUMAN false false Metal Binding Homo_sapiens NENF 172 18856.2 5.36 Involved in heme binding Displays neurotrophic activity and activates phosphorylation of MAPK1/ERK2, MAPK3/ERK1 and AKT1/AKT in primary cultured neurons. Does not have mitogenic activity in primary cultured astrocytes. May play a role on neuronal differentiation and may have a transient effect on neural cell proliferation in neural precursor cells. Neurotrophic activity is enhanced by binding to heme ["1-31"] ["None"] AB126219 55771070 NENF Chromosome:1 1q32.3 NENF HGNC:30384 true 2020-06-12T23:07:19Z 2020-07-28T02:32:05Z 0 1 0 3872 CDBP03871 Nuclear factor erythroid 2-related factor 1 Q14494 NF2L1_HUMAN false false Transcription Factor Homo_sapiens NFE2L1 772 84702.8 4.25 Involved in sequence-specific DNA binding transcription factor activity Activates erythroid-specific, globin gene expression ["None"] ["None"] NM_003204.2 4505379 NFE2L1 Chromosome:1 17q21.3 NFE2L1 HGNC:7781 true 2020-06-12T23:07:19Z 2020-07-28T02:32:06Z 0 0 1 3873 CDBP03872 Neuroglobin Q9NPG2 NGB_HUMAN false false Metal Binding Homo_sapiens NGB 151 16933.2 5.24 Involved in iron ion binding Involved in oxygen transport in the brain ["None"] ["None"] 1OJ6 AC007375 7527761 NGB Chromosome:1 14q24.3 NGB HGNC:14077 true 2020-06-12T23:07:19Z 2020-07-28T02:32:05Z 0 1 0 3874 CDBP03873 Nuclear respiratory factor 1 Q16656 NRF1_HUMAN false false Enzyme Homo_sapiens NRF1 503 53540.7 4.69 Involved in DNA binding Transcription factor that activates the expression of the EIF2S1 (EIF2-alpha) gene. Links the transcriptional modulation of key metabolic genes to cellular growth and development. Implicated in the control of nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication ["None"] ["None"] L22454 347960 NRF1 Chromosome:7 7q32 NRF1 HGNC:7996 true 2020-06-12T23:07:19Z 2020-07-28T02:34:06Z 0 0 0 3875 CDBP03874 Membrane-associated progesterone receptor component 1 O00264 PGRC1_HUMAN false false Receptor Homo_sapiens PGRMC1 195 21670.9 4.3 Involved in heme binding Receptor for progesterone ["None"] ["25-43"] NM_006667.3 5729875 PGRMC1 PGRMC1 HGNC:16090 true 2020-06-12T23:07:19Z 2020-07-28T02:29:11Z 1 1 0 3876 CDBP03875 Membrane-associated progesterone receptor component 2 O15173 PGRC2_HUMAN false false Receptor Homo_sapiens PGRMC2 223 23818.2 4.48 Involved in heme binding Receptor for steroids (Potential) ["None"] ["42-66"] AJ002030 2570007 PGRMC2 Chromosome:4 4q26 PGRMC2 HGNC:16089 true 2020-06-12T23:07:19Z 2020-07-28T02:29:11Z 1 1 0 3877 CDBP03876 Radical S-adenosyl methionine domain-containing protein 2 Q8WXG1 RSAD2_HUMAN false false Enzyme Homo_sapiens RSAD2 361 42169.3 8.33 Involved in catalytic activity Involved in antiviral defense. May impair virus budding by disrupting lipid rafts at the plasma membrane, a feature which is essential for the budding process of many viruses. Acts through binding with and inactivating FPPS, an enzyme involved in synthesis of cholesterol, farnesylated and geranylated proteins, ubiquinones dolichol and heme. Plays a major role in the cell antiviral state induced by type I and type II interferon. Displays antiviral effect against HIV-1 virus, hepatitis C virus, human cytomegalovirus, and aphaviruses, but not vesiculovirus ["None"] ["None"] AC017076 62822253 RSAD2 Chromosome:2 2p25.2 RSAD2 HGNC:30908 true 2020-06-12T23:07:19Z 2020-07-28T02:34:06Z 0 0 0 3878 CDBP03877 2-aminoethanethiol dioxygenase Q96SZ5 AEDO_HUMAN true false Enzyme Homo_sapiens ADO 270 29750.535 6.03 Involved in cysteamine dioxygenase activity NM_032804.5 62177110 ADO 10 10q21.3 ADO HGNC:23506 true hsa:84890 NP_116193.2:NM_032804.5 Iron 2020-06-12T23:07:19Z 2020-07-28T02:29:11Z 0 1 0 3879 CDBP03878 Alpha-ketoglutarate-dependent dioxygenase alkB homolog 2 Q6NS38 ALKB2_HUMAN true false Enzyme Homo_sapiens ALKBH2 261 29322.22 9.652 Involved in oxidoreductase activity Dioxygenase that repairs alkylated DNA and RNA containing 1-methyladenine and 3-methylcytosine by oxidative demethylation. Can also repair alkylated DNA containing 1-ethenoadenine (in vitro). Has strong preference for double-stranded DNA. Has low efficiency with single-stranded substrates. Requires molecular oxygen, alpha-ketoglutarate and iron. 3BTX;3BTY;3BTZ;3BU0;3BUC;3H8O;3H8R;3H8X;3RZG;3RZH;3RZJ;3RZK;3RZL;3RZM;3S57;3S5A AY754389 53988530 ALKBH2 12 12q24.11 ALKBH2 HGNC:32487 true hsa:121642 NP_001001655.1:NM_001001655.2;NP_001138846.1:NM_001145374.1;NP_001138847.1:NM_001145375.1;NP_001192108.1:NM_001205179.1;NP_001192109.1:NM_001205180.1 Detected in colon, small intestine, ovary, testis, prostate, skeletal muscle, heart, liver and urinary bladder. Fe(2+) ion 2020-06-12T23:07:19Z 2020-07-28T02:29:11Z 0 0 0 3880 CDBP03879 Alpha-ketoglutarate-dependent dioxygenase alkB homolog 3 Q96Q83 ALKB3_HUMAN true false Enzyme Homo_sapiens ALKBH3 286 33374.5 8.58 Involved in oxidoreductase activity Dioxygenase that repairs alkylated DNA containing 1- methyladenine and 3-methylcytosine by oxidative demethylation. Has a strong preference for single-stranded DNA. May also act on RNA. Requires molecular oxygen, alpha-ketoglutarate and iron ["None"] ["None"] AB042029 ALKBH3 Chromosome:1 11p11.2 ALKBH3 HGNC:30141 true 2020-06-12T23:07:19Z 2020-07-28T02:29:11Z 0 0 0 3881 CDBP03880 Beta,beta-carotene 9',10'-oxygenase Q9BYV7 BCDO2_HUMAN true false Enzyme Homo_sapiens BCO2 579 61509.65 7.964 Secondary metabolites biosynthesis, transport and catabolism Asymmetrically cleaves beta-carotene at the 9',10' double bond resulting in the formation of beta-apo-10'-carotenal and beta-ionone. Besides beta-carotene, lycopene is also oxidatively cleaved. The apocarotenals formed by this enzyme may be the precursors for the biosynthesis of retinoic acid or exert unknown physiological effects. NM_031938.4 82617624 BCO2 11 11q23.1 BCO2 HGNC:18503 true hsa:83875 G66-33846-MONOMER NP_001032367.2:NM_001037290.2;NP_001243326.1:NM_001256397.1 Highly expressed in retinal pigment epithelium. Also expressed in stomach, small intestine, liver, testis, kidney, adrenal gland, pancreas, heart, skeletal muscle and prostate (at protein level). Fe(2+) ion 2020-06-12T23:07:19Z 2020-07-28T02:29:11Z 0 1 0 3882 CDBP03881 Mitochondrial chaperone BCS1 Q9Y276 BCS1_HUMAN false false Enzyme Homo_sapiens BCS1L 419 47533.8 8.68 Involved in nucleotide binding Chaperone necessary for the assembly of mitochondrial respiratory chain complex III. Plays an important role in the maintenance of mitochondrial tubular networks, respiratory chain assembly and formation of the LETM1 complex ["None"] ["16-32"] AF026849 3599962 BCS1L Chromosome:2 2q33 BCS1L HGNC:1020 true 2020-06-12T23:07:19Z 2020-07-28T02:34:06Z 0 0 0 3883 CDBP03882 Ferritin heavy chain P02794 FRIH_HUMAN false false Metal Binding Homo_sapiens FTH1 183 21225.47 5.556 Involved in oxidoreductase activity Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Has ferroxidase activity. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney (By similarity). 1FHA;2CEI;2CHI;2CIH;2CLU;2CN6;2CN7;2FHA;2IU2;2Z6M;3AJO;3AJP;3AJQ;3ERZ;3ES3 AB062402 21104438 FTH1 11 11q13 FTH1 HGNC:3976 true hsa:2495 NP_002023.2:NM_002032.2 Oligomer of 24 subunits. There are two types of subunits: L (light) chain and H (heavy) chain. The major chain can be light or heavy, depending on the species and tissue type. The functional molecule forms a roughly spherical shell with a diameter of 12 nm and contains a central cavity into which the insoluble mineral iron core is deposited 2020-06-12T23:07:19Z 2020-07-28T02:32:05Z 0 1 0 3884 CDBP03883 Iron-sulfur cluster co-chaperone protein HscB, mitochondrial Q8IWL3 HSC20_HUMAN false false Enzyme Homo_sapiens HSCB 235 27422.0 7.8 Involved in heat shock protein binding May act as a co-chaperone in iron-sulfur cluster assembly in mitochondria ["None"] ["None"] AL023494 56203009 HSCB Chromosome:2 22q12.1 HSCB HGNC:28913 true 2020-06-12T23:07:19Z 2020-07-28T02:34:06Z 0 0 0 3885 CDBP03884 Probable imidazolonepropionase Q96NU7 HUTI_HUMAN true false Enzyme Homo_sapiens AMDHD1 426 46742.505 6.611 Involved in hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides AK054617 AMDHD1 12 12q23.1 AMDHD1 HGNC:28577 true hsa:144193 NP_689648.2:NM_152435.2 zinc or iron ion 2020-06-12T23:07:19Z 2020-07-28T02:29:11Z 0 1 0 3886 CDBP03885 Iron-sulfur cluster assembly 1 homolog, mitochondrial Q9BUE6 ISCA1_HUMAN false false Enzyme Homo_sapiens ISCA1 129 14179.2 9.55 Involved in structural molecule activity Involved in the assembly of mitochondrial iron-sulfur proteins. Probably involved in the binding of an intermediate of Fe/S cluster assembly ["None"] ["None"] NM_030940.3 52426768 ISCA1 Chromosome:9 9q21.33 ISCA1 HGNC:28660 true 2020-06-12T23:07:19Z 2020-07-28T02:34:06Z 0 0 0 3887 CDBP03886 Iron-sulfur cluster assembly 2 homolog, mitochondrial Q86U28 ISCA2_HUMAN false false Enzyme Homo_sapiens ISCA2 154 16476.2 4.88 Involved in structural molecule activity Involved in the assembly of mitochondrial iron-sulfur proteins. Probably involved in the binding of an intermediate of Fe/S cluster assembly ["None"] ["None"] NM_194279.2 160420328 ISCA2 Chromosome:1 14q24.3 ISCA2 HGNC:19857 true 2020-06-12T23:07:19Z 2020-07-28T02:34:06Z 0 0 0 3888 CDBP03887 Iron-sulfur cluster assembly enzyme ISCU, mitochondrial Q9H1K1 ISCU_HUMAN false false Metal Binding Homo_sapiens ISCU 167 17936.7 10.13 Involved in iron ion binding Involved in the assembly or repair of the [Fe-S] clusters present in iron-sulfur proteins. Binds iron ["None"] ["None"] 1WFZ NM_213595.2 56699456 ISCU Chromosome:1 12q24.1 ISCU HGNC:29882 true 2020-06-12T23:07:19Z 2020-07-28T02:32:05Z 0 1 0 3889 CDBP03888 Epidermis-type lipoxygenase 3 Q9BYJ1 LOXE3_HUMAN true false Enzyme Homo_sapiens ALOXE3 711 80542.6 6.96 Involved in metal ion binding Introduces molecular oxygen into polyunsaturated fatty acids. Exact substrate is not known ["None"] ["None"] AF182218 10441004 ALOXE3 Chromosome:1 17p13.1 ALOXE3 HGNC:13743 true 2020-06-12T23:07:19Z 2020-07-28T02:29:11Z 0 1 0 3890 CDBP03889 NFU1 iron-sulfur cluster scaffold homolog, mitochondrial Q9UMS0 NFU1_HUMAN false false Metal Binding Homo_sapiens NFU1 254 28462.3 4.71 Involved in iron ion binding Iron-sulfur cluster scaffold protein which can assemble [4Fe-2S] clusters and deliver them to target proteins ["None"] ["None"] NM_001002755.1 50593021 NFU1 Chromosome:2 2p15-p13 NFU1 HGNC:16287 true 2020-06-12T23:07:19Z 2020-07-28T02:32:05Z 0 1 0 3891 CDBP03890 Natural resistance-associated macrophage protein 1 P49279 NRAM1_HUMAN false true Transporter Homo_sapiens SLC11A1 550 59871.6 7.72 Involved in transporter activity Divalent transition metal (iron and manganese) transporter involved in iron metabolism and host resistance to certain pathogens. Macrophage-specific membrane transport function. Controls natural resistance to infection with intracellular parasites. Pathogen resistance involves sequestration of Fe(2+) and Mn(2+), cofactors of both prokaryotic and eukaryotic catalases and superoxide dismutases, not only to protect the macrophage against its own generation of reactive oxygen species, but to deny the cations to the pathogen for synthesis of its protective enzymes ["None"] ["59-76", "86-105", "143-163", "168-187", "197-217", "241-259", "288-307", "350-369", "401-418", "430-450", "467-488", "497-516"] AF229163 10257411 SLC11A1 Chromosome:2 2q35 SLC11A1 HGNC:10907 true 2020-06-12T23:07:19Z 2020-07-28T02:32:12Z 0 0 0 3892 CDBP03891 Prolyl 3-hydroxylase 1 Q32P28 P3H1_HUMAN true false Enzyme Homo_sapiens LEPRE1 736 78921.41 5.583 Involved in oxidoreductase activity Basement membrane-associated chondroitin sulfate proteoglycan (CSPG). Has prolyl 3-hydroxylase activity catalyzing the post-translational formation of 3-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens, especially types IV and V. May be involved in the secretory pathway of cells. Has growth suppressive activity in fibroblasts. NM_022356.3 186928835 LEPRE1 1 1p34.1 LEPRE1 HGNC:19316 true hsa:64175 NP_001139761.1:NM_001146289.1;NP_001230175.1:NM_001243246.1;NP_071751.3:NM_022356.3 Iron;Ascorbate 2020-06-12T23:07:19Z 2020-07-28T02:29:11Z 0 1 0 3893 CDBP03892 Prolyl 3-hydroxylase 2 Q8IVL5 P3H2_HUMAN true false Enzyme Homo_sapiens LEPREL1 708 60386.32 5.073 Involved in oxidoreductase activity Shows prolyl 3-hydroxylase activity catalyzing the post-translational formation of 3-hydroxyproline in -Xaa-Pro-Gly-sequences in collagens, especially types II, IV and V (By similarity). AJ430351 27526730 LEPREL1 3 3q28 LEPREL1 HGNC:19317 true hsa:55214 NP_001127890.1:NM_001134418.1;NP_060662.2:NM_018192.3 Expressed in heart, placenta, lung, liver, skeletal muscle and kidney. Expression localized to the epithelia of bile ducts and to the sacroplasm of heart muscle and skeletal muscle. In the pancreas, localized to a subpopulation of Langerhans islet cells and in the salivary gland, expressed in acinar cells. Iron;Ascorbate 2020-06-12T23:07:19Z 2020-07-28T02:29:12Z 0 1 0 3894 CDBP03893 Prolyl 3-hydroxylase 3 Q8IVL6 P3H3_HUMAN true false Enzyme Homo_sapiens LEPREL2 736 81835.705 6.314 Involved in iron ion binding Has prolyl 3-hydroxylase activity catalyzing the post-translational formation of 3-hydroxyproline in -Xaa-Pro-Gly-sequences in collagens, especially types IV and V (By similarity). AJ430349 27526728 LEPREL2 12 12q13 LEPREL2 HGNC:19318 true hsa:10536 NP_055077.2:NM_014262.3 Weak expression in heart, lung, ovary and skeletal muscle. Iron;Ascorbate 2020-06-12T23:07:19Z 2020-07-28T02:29:12Z 0 1 0 3895 CDBP03894 Serine/threonine-protein phosphatase PP1-alpha catalytic subunit P62136 PP1A_HUMAN true false Enzyme Homo_sapiens PPP1CA 330 38630.99 6.629 Involved in hydrolase activity Protein phosphatase that associates with over 200 regulatory proteins to form highly specific holoenzymes which dephosphorylate hundreds of biological targets. Protein phosphatase 1 (PP1) is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Involved in regulation of ionic conductances and long-term synaptic plasticity. May play an important role in dephosphorylating substrates such as the postsynaptic density-associated Ca(2+)/calmodulin dependent protein kinase II. Component of the PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase. Regulates NEK2 function in terms of kinase activity and centrosome number and splitting, both in the presence and absence of radiation-induced DNA damage. Regulator of neural tube and optic fissure closure, and enteric neural crest cell (ENCCs) migration during development. 3E7A;3E7B;3EGG;3EGH;3HVQ;3N5U;3V4Y;4G9J X70848 35451 PPP1CA 11 11q13 PPP1CA HGNC:9281 true hsa:5499 NP_001008709.1:NM_001008709.1;NP_002699.1:NM_002708.3;NP_996756.1:NM_206873.1 iron ion;manganese ion PP1 comprises a catalytic subunit, PPP1CA, PPP1CB or PPP1CC, which is folded into its native form by inhibitor 2 and glycogen synthetase kinase 3, and then complexed to one or several targeting or regulatory subunits. PPP1R12A, PPP1R12B and PPP1R12C mediate binding to myosin. PPP1R3A (in skeletal muscle), PPP1R3B (in liver), PPP1R3C, PPP1R3D and PPP1R3F (in brain) mediate binding to glycogen. Interacts with PPP1R39 . Interacts with PPP1R9A and PPP1R9B. Part of a complex containing PPP1R15B, PP1 and NCK1/2. Interacts with PHACTR4; which acts as an activator of PP1 activity (By similarity). Interacts with PPP1R15A and PPP1R15B; the interactions mediate binding to EIF2S1. Component of the MLL5-L complex, at least composed of MLL5, STK38, PPP1CA, PPP1CB, PPP1CC, HCFC1, ACTB and OGT. Interacts with PPP1R7. Interacts with YLPM1. Forms a complex with ILF2, ILF3, YLPM1, KHDRBS1, RBMX and NCOA5. Interacts with NOM1 and PPP1R8. Interacts with HHV-1 ICP34.5. Interacts with PPP1R16B. Interacts with RPSA only in the presence of PPP1R16B. Component of the PTW/PP1 phosphatase complex, composed of PPP1R10/PNUTS, TOX4, WDR82, and PPP1CA or PPP1CB or PPP1CC. Interacts with PPP1R10/PNUTS and PPP1R8. Interacts with WDR82 in the presence of PPP1R10/PNUTS. Interacts with TRIM28; the interaction dephosphorylates TRIM28 on 'Ser-824' and forms a complex at the p21 promoter site. Interacts with isoform 1 and isoform 4 of NEK2. Interacts with FER; this promotes phosphorylation at Thr-320. Interacts with DAB2; the interaction is mutually exclusive with the AXIN1:PPP1CA interaction 2020-06-12T23:07:19Z 2020-07-28T02:29:12Z 1 1 0 3896 CDBP03895 Serine/threonine-protein phosphatase 2A catalytic subunit beta isoform P62714 PP2AB_HUMAN true false Enzyme Homo_sapiens PPP2CB 309 35574.85 5.426 Involved in hydrolase activity PP2A can modulate the activity of phosphorylase B kinase casein kinase 2, mitogen-stimulated S6 kinase, and MAP-2 kinase. X12656 35581 PPP2CB 8 8p12 PPP2CB HGNC:9300 true hsa:5516 NP_001009552.1:NM_001009552.1 iron ion;manganese ion Found in a complex with at least ARL2, PPP2CB, PPP2R1A, PPP2R2A, PPP2R5E and TBCD. Interacts with TBCD . PP2A consists of a common heterodimeric core enzyme (composed of a 36 kDa catalytic subunit (subunit C) and a 65 kDa constant regulatory subunit (PR65) (subunit A)) that associates with a variety of regulatory subunits. Proteins that associate with the core dimer include three families of regulatory subunits B (the R2/B/PR55/B55, R3/B''/PR72/PR130/PR59 and R5/B'/B56 families), the 48 kDa variable regulatory subunit, viral proteins, and cell signaling molecules. Binds PPME1. May indirectly interact with SGOL1, most probably through regulatory B56 subunits 2020-06-12T23:07:19Z 2020-07-28T02:29:12Z 1 1 0 3897 CDBP03896 Serine/threonine-protein phosphatase 4 catalytic subunit P60510 PP4C_HUMAN true false Enzyme Homo_sapiens PPP4C 307 35079.6 5.061 Involved in hydrolase activity Protein phosphatase that is involved in many processes such as microtubule organization at centrosomes, maturation of spliceosomal snRNPs, apoptosis, DNA repair, tumor necrosis factor (TNF)-alpha signaling, activation of c-Jun N-terminal kinase MAPK8, regulation of histone acetylation, DNA damage checkpoint signaling, NF-kappa-B activation and cell migration. The PPP4C-PPP4R1 PP4 complex may play a role in dephosphorylation and regulation of HDAC3. The PPP4C-PPP4R2-PPP4R3A PP4 complex specifically dephosphorylates H2AFX phosphorylated on Ser-140 (gamma-H2AFX) generated during DNA replication and required for DNA double strand break repair. Dephosphorylates NDEL1 at CDK1 phosphorylation sites and negatively regulates CDK1 activity in interphase (By similarity). In response to DNA damage, catalyzes RPA2 dephosphorylation, an essential step for DNA repair since it allows the efficient RPA2-mediated recruitment of RAD51 to chromatin. AF097996 4028575 PPP4C 16 16p11.2 PPP4C HGNC:9319 true hsa:5531 NP_002711.1:NM_002720.1 iron ion;manganese ion Serine/threonine-protein phosphatase 4 (PP4) occurs in different assemblies of the catalytic and one or more regulatory subunits. Component of the PP4 complexes PPP4C-PPP4R1, PPP4C-PPP4R2, PPP4C-PPP4R2-PPP4R3A, PPP4C-PPP4R2-PPP4R3B and PPP4C-PPP4R4. The PPP4C-PPP4R2 complex appears to be a tetramer composed of 2 molecules of PPP4C and 2 molecules of PPP4R2. Interacts with REL, NFKB1/p50 and RELA. Interacts with SMN1 AND GEMIN4. Interacts with IRS4 (phosphorylated). Interacts with SMEK1/PPP4R3A; the interaction requires PP4R2. Interacts with HDAC3 2020-06-12T23:07:19Z 2020-07-28T02:29:12Z 0 1 0 3898 CDBP03897 Serine/threonine-protein phosphatase 5 P53041 PPP5_HUMAN true false Enzyme Homo_sapiens PPP5C 499 56878.22 6.274 Involved in hydrolase activity May play a role in the regulation of RNA biogenesis and/or mitosis. In vitro, dephosphorylates serine residues of skeletal muscle phosphorylase and histone H1. 1A17;1S95;1WAO;2BUG;3H60;3H61;3H62;3H63;3H64;3H66;3H67;3H68;3H69 BT007275 PPP5C 19 19q13.3 PPP5C HGNC:9322 true hsa:5536 NP_006238.1:NM_006247.3 Ubiquitous. iron ion;manganese ion Interacts with CDC16 and CDC27 2020-06-12T23:07:19Z 2020-07-28T02:29:12Z 0 1 1 3899 CDBP03898 Serine/threonine-protein phosphatase 6 catalytic subunit O00743 PPP6_HUMAN true false Enzyme Homo_sapiens PPP6C 305 38946.415 6.179 Involved in hydrolase activity Catalytic subunit of protein phosphatase 6 (PP6). PP6 is a component of a signaling pathway regulating cell cycle progression in response to IL2 receptor stimulation. N-terminal domain restricts G1 to S phase progression in cancer cells, in part through control of cyclin D1. Downregulates MAP3K7 kinase activation of the IL1 signaling pathway by dephosphorylation of MAP3K7. NM_002721.4 4506029 PPP6C 9 9q33.3 PPP6C HGNC:9323 true hsa:5537 NP_001116827.1:NM_001123355.1;NP_001116841.1:NM_001123369.1;NP_002712.1:NM_002721.4 Ubiquitously expressed in all tissues tested with highest expression levels in testis, heart, kidney, brain, stomach, liver and skeletal muscle and lowest in placenta, lung colon and spleen. iron ion;manganese ion Protein phosphatase 6 (PP6) holoenzyme is proposed to be a heterotrimeric complex formed by the catalytic subunit, a SAPS domain-containing subunit (PP6R) and an ankyrin repeat-domain containing regulatory subunit (ARS). Interacts with IGBP1, MAP3K7, NFKBIE, PPP6R1, PPP6R2 and PPP6R3 2020-06-12T23:07:19Z 2020-07-28T02:29:12Z 0 1 0 3900 CDBP03899 Hemojuvelin Q6ZVN8 RGMC_HUMAN false false Enzyme Homo_sapiens HFE2 426 45079.7 7.64 Member of the repulsive guidance molecule (RGM) family. Involved in iron metabolism. Acts as a bone morphogenetic protein (BMP) coreceptor. Enhancement of BMP signaling regulates hepcidin (HAMP) expression and iron metabolism. May cooperate with hepcidin to restrict iron absorption in the gut. Could represent the cellular receptor for hepcidin ["1-35"] ["None"] NM_213653.3 47458048 HFE2 Chromosome:1 1q21.1 HFE2 HGNC:4887 true 2020-06-12T23:07:19Z 2020-07-28T02:34:06Z 0 0 0 3901 CDBP03900 Zinc transporter ZIP14 Q15043 S39AE_HUMAN false true Transporter Homo_sapiens SLC39A14 492 54211.785 5.327 Involved in metal ion transmembrane transporter activity May mediate cellular uptake of nontransferrin-bound iron (By similarity). Broad-scope metal ion transporter with a preference for zinc uptake. NM_001128431.2 190360568 SLC39A14 8 8p21.3 SLC39A14 HGNC:20858 true hsa:23516 NP_001121903.1:NM_001128431.2;NP_001128625.1:NM_001135153.1;NP_001128626.1:NM_001135154.1;NP_056174.2:NM_015359.4 Ubiquitously expressed, with increased expression in liver, pancreas, fetal liver, thyroid gland, left and right ventricle, right atrium and fetal heart. Weakly expressed in spleen, thymus, and peripheral blood leukocytes. Homotrimer 2020-06-12T23:07:19Z 2020-07-28T02:32:13Z 0 0 0 3902 CDBP03901 Sideroflexin-1 Q9H9B4 SFXN1_HUMAN false true Transporter Homo_sapiens SFXN1 322 35619.1 9.41 Involved in cation transmembrane transporter activity Might be involved in the transport of a component required for iron utilization into or out of the mitochondria ["None"] ["103-120", "147-167", "175-195", "229-249", "267-287"] NM_022754.5 23618867 SFXN1 SFXN1 HGNC:16085 true 2020-06-12T23:07:19Z 2020-07-28T02:32:13Z 0 0 0 3903 CDBP03902 Sideroflexin-2 Q96NB2 SFXN2_HUMAN false true Transporter Homo_sapiens SFXN2 322 36231.5 9.87 Involved in cation transmembrane transporter activity Potential iron transporter ["None"] ["100-122", "142-164", "174-192", "228-250", "265-287"] NM_178858.4 30578418 SFXN2 Chromosome:1 10q24.32 SFXN2 HGNC:16086 true 2020-06-12T23:07:19Z 2020-07-28T02:32:13Z 0 0 0 3904 CDBP03903 Sideroflexin-3 Q9BWM7 SFXN3_HUMAN false true Transporter Homo_sapiens SFXN3 325 35978.6 9.37 Involved in cation transmembrane transporter activity Potential iron transporter ["None"] ["150-168", "178-198", "230-250", "270-290"] AK074707 22760324 SFXN3 Chromosome:1 10q24.31 SFXN3 HGNC:16087 true 2020-06-12T23:07:19Z 2020-07-28T02:32:13Z 0 0 0 3905 CDBP03904 Sideroflexin-4 Q6P4A7 SFXN4_HUMAN false true Transporter Homo_sapiens SFXN4 337 37998.0 9.55 Involved in cation transmembrane transporter activity Potential iron transporter ["None"] ["111-131", "133-153", "165-185", "251-271", "293-313"] NM_213649.1 47458811 SFXN4 Chromosome:1 10q26.11 SFXN4 HGNC:16088 true 2020-06-12T23:07:19Z 2020-07-28T02:32:13Z 0 0 0 3906 CDBP03905 Sideroflexin-5 Q8TD22 SFXN5_HUMAN false true Transporter Homo_sapiens SFXN5 340 37123.8 9.76 Involved in cation transmembrane transporter activity Transports citrate. Potential iron transporter ["None"] ["103-123", "163-183", "254-274", "287-307"] AC012366 62822196 SFXN5 SFXN5 HGNC:16073 true 2020-06-12T23:07:19Z 2020-07-28T02:32:13Z 0 0 0 3907 CDBP03906 Beta-synuclein Q16143 SYUB_HUMAN false false Enzyme Homo_sapiens SNCB 134 14287.8 4.09 Involved in calcium ion binding Non-amyloid component of senile plaques found in Alzheimer disease. Could act as a regulator of SNCA aggregation process. Protects neurons from staurosporine and 6-hydroxy dopamine (6OHDA)-stimulated caspase activation in a TP53/p53- dependent manner. Contributes to restore the SNCA anti-apoptotic function abolished by 6OHDA. Not found in the Lewy bodies associated with Parkinson disease ["None"] ["None"] AF053136 3930222 SNCB Chromosome:5 5q35 SNCB HGNC:11140 true 2020-06-12T23:07:19Z 2020-07-28T02:34:06Z 0 0 0 3908 CDBP03907 Transmembrane protease serine 6 Q8IU80 TMPS6_HUMAN true false Enzyme Homo_sapiens TMPRSS6 811 89999.3 6.66 Involved in serine-type endopeptidase activity Serine protease which hydrolyzes a range of proteins including type I collagen, fibronectin and fibrinogen. Can also activate urokinase-type plasminogen activator with low efficiency. May play a specialized role in matrix remodeling processes in liver. Required to sense iron deficiency. Overexpression suppresses activation of the HAMP promoter ["None"] ["56-76"] NM_153609.2 23957702 TMPRSS6 Chromosome:2 22q12.3 TMPRSS6 HGNC:16517 true 2020-06-12T23:07:19Z 2020-07-28T02:29:12Z 0 0 0 3909 CDBP03908 Melanotransferrin P08582 TRFM_HUMAN false false Metal Binding Homo_sapiens MFI2 738 80240.9 5.9 Involved in ferric iron binding Involved in iron cellular uptake. Seems to be internalized and then recycled back to the cell membrane. Binds a single atom of iron per subunit. Could also bind zinc ["1-19"] ["None"] NM_005929.5 134244281 MFI2 Chromosome:3 3q28-q29 MFI2 HGNC:7037 true 2020-06-12T23:07:19Z 2020-07-28T02:32:05Z 0 1 0 3910 CDBP03909 Acyl-coenzyme A synthetase ACSM2A, mitochondrial Q08AH3 ACS2A_HUMAN true false Enzyme Homo_sapiens ACSM2A 577 64223.7 7.955 Involved in catalytic activity Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C(4) to C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4-unsaturated acids (in vitro) (By similarity). 2VZE;2WD9;3B7W;3C5E;3DAY;3EQ6;3GPC NM_001010845.2 58082049 ACSM2A 16 16p12.3 ACSM2A HGNC:32017 true hsa:123876 NP_001010845.1:NM_001010845.2 Magnesium or manganese Monomer 2020-06-12T23:07:19Z 2020-07-28T02:29:13Z 0 1 0 3911 CDBP03910 Acyl-coenzyme A synthetase ACSM2B, mitochondrial Q68CK6 ACS2B_HUMAN true false Enzyme Homo_sapiens ACSM2B 577 64270.78 8.252 Involved in catalytic activity Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C(4) to C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4-unsaturated acids (in vitro). AB073604 51555772 ACSM2B 16 16p12.3 ACSM2B HGNC:30931 true hsa:348158 NP_001098539.1:NM_001105069.1;NP_872423.3:NM_182617.3 Detected in liver. Magnesium or manganese Monomer 2020-06-12T23:07:19Z 2020-07-28T02:29:13Z 0 1 0 3912 CDBP03911 Acyl-coenzyme A synthetase ACSM3, mitochondrial Q53FZ2 ACSM3_HUMAN true false Enzyme Homo_sapiens ACSM3 586 66152.235 9.041 Involved in catalytic activity Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C(4) to C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4-unsaturated acids (in vitro) (By similarity). NM_005622.3 42544132 ACSM3 16 16p13.11 ACSM3 HGNC:10522 true hsa:6296 NP_005613.2:NM_005622.3;NP_973729.1:NM_202000.2 Magnesium 2020-06-12T23:07:19Z 2020-07-28T02:29:13Z 0 1 0 3913 CDBP03912 Acyl-coenzyme A synthetase ACSM5, mitochondrial Q6NUN0 ACSM5_HUMAN true false Enzyme Homo_sapiens ACSM5 579 64759.55 8.402 Involved in catalytic activity Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C(4) to C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4-unsaturated acids (in vitro) (By similarity). NM_017888.2 38505220 ACSM5 16 16p12.3 ACSM5 HGNC:26060 true hsa:54988 NP_060358.2:NM_017888.2 Detected in kidney and liver. Magnesium or manganese 2020-06-12T23:07:19Z 2020-07-28T02:29:13Z 0 1 0 3914 CDBP03913 Activin receptor type-1C Q8NER5 ACV1C_HUMAN false false Receptor Homo_sapiens ACVR1C 493 54870.2 7.92 Involved in transmembrane receptor protein serine/threonine kinase activity Serine/threonine protein kinase which forms a receptor complex on ligand binding. The receptor complex consisting of 2 type II and 2 type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators, SMAD2 and SMAD3. Receptor for activin AB, activin B and NODAL. Plays a role in cell differentiation, growth arrest and apoptosis ["1-20"] ["114-134"] NM_145259.2 161333833 ACVR1C Chromosome:2 2q24.1 ACVR1C HGNC:18123 true 2020-06-12T23:07:19Z 2020-07-28T02:29:13Z 1 0 0 3915 CDBP03914 Acylglycerol kinase, mitochondrial Q53H12 AGK_HUMAN true false Enzyme Homo_sapiens AGK 422 47136.8 8.21 Involved in NAD+ kinase activity Lipid kinase that can phosphorylate both monoacylglycerol and diacylglycerol to form lysophosphatidic acid (LPA) and phosphatidic acid (PA), respectively. Does not phosphorylate sphingosine. Overexpression increases the formation and secretion of LPA, resulting in transactivation of EGFR and activation of the downstream MAPK signaling pathway, leading to increased cell growth ["None"] ["None"] NM_018238.3 8922701 AGK Chromosome:7 7q34 AGK HGNC:21869 true 2020-06-12T23:07:19Z 2020-07-28T02:29:13Z 1 0 0 3916 CDBP03915 Bloom syndrome protein P54132 BLM_HUMAN false false Transcription Factor Homo_sapiens BLM 1417 158998.92 7.491 Involved in DNA binding Participates in DNA replication and repair. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction. Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA. 2KV2;2RRD AY886902 58003498 BLM 15 15q26.1 BLM HGNC:1058 true hsa:641 NP_000048.1:NM_000057.2 Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with ubiquitinated FANCD2. Interacts with RMI complex. Interacts directly with RMI1 component of RMI complex. Interacts with SUPV3L1 2020-06-12T23:07:19Z 2020-07-28T02:32:06Z 0 0 1 3917 CDBP03916 Cell division protein kinase 11A Q9UQ88 CD11A_HUMAN true false Enzyme Homo_sapiens CDK11A 780 90973.5 5.12 Involved in protein kinase activity Appears to play multiple roles in cell cycle progression, cytokinesis and apoptosis. The p110 isoforms have been suggested to be involved in pre-mRNA splicing, potentially by phosphorylating the splicing protein SFRS7. The p58 isoform may act as a negative regulator of normal cell cycle progression ["None"] ["None"] NM_024011.2 148763347 CDK11A Chromosome:1 1p36.33 CDK11A HGNC:1730 true 2020-06-12T23:07:19Z 2020-07-28T02:29:13Z 0 0 0 3918 CDBP03917 Putative ATP-dependent Clp protease proteolytic subunit, mitochondrial Q16740 CLPP_HUMAN true false Enzyme Homo_sapiens CLPP 277 30179.8 8.21 Involved in serine-type endopeptidase activity Clp cleaves peptides in various proteins in a process that requires ATP hydrolysis. Clp may be responsible for a fairly general and central housekeeping function rather than for the degradation of specific substrates ["None"] ["None"] 1TG6 Z50853 963048 CLPP Chromosome:1 19p13.3 CLPP HGNC:2084 true 2020-06-12T23:07:19Z 2020-07-28T02:29:13Z 0 0 0 3919 CDBP03918 CCR4-NOT transcription complex subunit 6 Q9ULM6 CNOT6_HUMAN false false Enzyme Homo_sapiens CNOT6 557 63306.0 7.29 Involved in protein binding Poly(A) nuclease involved in mRNA decay mediated by the major-protein-coding determinant of instability (mCRD) of the FOS gene in the cytoplasm. Has 3'-5' RNase activity. The CCR4-NOT complex functions as general transcription regulation complex ["None"] ["None"] NM_015455.3 28872863 CNOT6 Chromosome:5 5q35.3 CNOT6 HGNC:14099 true 2020-06-12T23:07:19Z 2020-07-28T02:34:07Z 0 0 0 3920 CDBP03919 Peripheral plasma membrane protein CASK O14936 CSKP_HUMAN false false Enzyme Homo_sapiens CASK 926 105121.9 6.4 Involved in protein binding Multidomain scaffolding protein with a role in synaptic transmembrane protein anchoring and ion channel trafficking. Contributes to neural development and regulation of gene expression via interaction with the transcription factor TRB1. Binds to cell-surface proteins, including amyloid precursor protein, neurexins and syndecans. May mediate a link between the extracellular matrix and the actin cytoskeleton via its interaction with syndecan and with the actin/spectrin-binding protein 4.1 ["None"] ["None"] 1KGD NM_003688 186972120 CASK CASK HGNC:1497 true 2020-06-12T23:07:19Z 2020-07-28T02:34:07Z 0 0 0 3921 CDBP03920 m7GpppN-mRNA hydrolase Q8IU60 DCP2_HUMAN true false Enzyme Homo_sapiens DCP2 420 44408.25 6.936 Involved in RNA binding Necessary for the degradation of mRNAs, both in normal mRNA turnover and in nonsense-mediated mRNA decay. Plays a role in replication-dependent histone mRNA degradation. Removes the 7-methyl guanine cap structure from mRNA molecules, yielding a 5'-phosphorylated mRNA fragment and 7m-GDP. Has higher activity towards mRNAs that lack a poly(A) tail. Has no activity towards a cap structure lacking a RNA moiety. NM_152624.4 31542498 DCP2 5 5q22.2 DCP2 HGNC:24452 true hsa:167227 NP_001229306.1:NM_001242377.1;NP_689837.2:NM_152624.5 Manganese. Required for highest activity. Can also utilize magnesium ions Found in a mRNA decay complex with LSM1, LSM3, LSM4, EXOSC2, EXOSC4, EXOSC10, PARN, XRN1, CNOT6, UPF1, UPF2 and UPF3B. Forms a complex with DCP1A, EDC3, DDX6 and EDC4/HEDLS, within this complex directly interacts with EDC4/HEDLS. Interacts with DPC1B, UPF1, UPF2 and UPF3B. Interacts (via N-terminus and C-terminus) with TRIM21 (via N-terminus and C-terminus). Associates with polysomes. Interacts with LIMD1, WTIP and AJUBA. Interacts with DDX17 in an RNA-dependent manner. Interacts with ZC3HAV1 2020-06-12T23:07:19Z 2020-07-28T02:29:13Z 0 1 0 3922 CDBP03921 Myotonin-protein kinase Q09013 DMPK_HUMAN true false Enzyme Homo_sapiens DMPK 639 70370.4 4.83 Involved in protein serine/threonine kinase activity Critical to the modulation of cardiac contractility and to the maintenance of proper cardiac conduction activity. Phosphorylates phospholamban ["None"] ["None"] NM_001081563.1 126091095 DMPK Chromosome:1 19q13.3 DMPK HGNC:2933 true 2020-06-12T23:07:19Z 2020-07-28T02:29:13Z 0 0 0 3923 CDBP03922 Dual specificity tyrosine-phosphorylation-regulated kinase 3 O43781 DYRK3_HUMAN true false Enzyme Homo_sapiens DYRK3 588 65713.2 9.78 Involved in protein kinase activity Negative regulator of EPO-dependent erythropoiesis, may place an upper limit on red cell production during stress erythropoiesis. Inhibits cell death due to cytokine withdrawal in hematopoietic progenitor cells. May act by regulating CREB/CRE signaling ["None"] ["None"] AF186773 10441415 DYRK3 Chromosome:1 1q32.1 DYRK3 HGNC:3094 true 2020-06-12T23:07:19Z 2020-07-28T02:29:13Z 0 0 0 3924 CDBP03923 Dual specificity tyrosine-phosphorylation-regulated kinase 4 Q9NR20 DYRK4_HUMAN true false Enzyme Homo_sapiens DYRK4 520 59608.0 9.26 Involved in protein kinase activity Possible non-essential role in spermiogenesis ["None"] ["None"] NM_003845.1 28827774 DYRK4 Chromosome:1 12p13.32 DYRK4 HGNC:3095 true 2020-06-12T23:07:19Z 2020-07-28T02:29:13Z 0 0 0 3925 CDBP03924 Crossover junction endonuclease EME1 Q96AY2 EME1_HUMAN true false Enzyme Homo_sapiens EME1 570 63251.3 7.06 Involved in DNA binding Interacts with MUS81 to form a DNA structure-specific endonuclease with substrate preference for branched DNA structures with a 5'-end at the branch nick. Typical substrates include 3'- flap structures, replication forks and nicked Holliday junctions. May be required in mitosis for the processing of stalled or collapsed replication forks ["None"] ["None"] AK055926 16550776 EME1 Chromosome:1 17q21.33 EME1 HGNC:24965 true 2020-06-12T23:07:19Z 2020-07-28T02:29:13Z 0 0 0 3926 CDBP03925 Mitochondrial enolase superfamily member 1 Q7L5Y1 ENOF1_HUMAN true false Enzyme Homo_sapiens ENOSF1 443 49786.1 6.45 Involved in cellular amino acid catabolic process May regulate thymidylate synthase activity ["None"] ["None"] NM_017512.4 42544119 ENOSF1 Chromosome:1 18p11.32 ENOSF1 HGNC:30365 true 2020-06-12T23:07:19Z 2020-07-28T02:29:13Z 0 0 0 3927 CDBP03926 Enolase-phosphatase E1 Q9UHY7 ENOPH_HUMAN true false Enzyme Homo_sapiens ENOPH1 261 28932.44 4.778 Involved in catalytic activity Bifunctional enzyme that catalyzes the enolization of 2,3-diketo-5-methylthiopentyl-1-phosphate (DK-MTP-1-P) into the intermediate 2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate (HK-MTPenyl-1-P), which is then dephosphorylated to form the acireductone 1,2-dihydroxy-3-keto-5-methylthiopentene (DHK-MTPene). 1YNS;1ZS9 AF113125 ENOPH1 4 4q21.22 ENOPH1 HGNC:24599 true hsa:58478 NP_067027.1:NM_021204.3 magnesium ion Monomer 2020-06-12T23:07:19Z 2020-07-28T02:29:14Z 0 1 0 3928 CDBP03927 TFIIH basal transcription factor complex helicase XPD subunit P18074 ERCC2_HUMAN true false Enzyme Homo_sapiens ERCC2 760 86908.305 7.151 Involved in DNA binding ATP-dependent 5'-3' DNA helicase, component of the core-TFIIH basal transcription factor. Involved in nucleotide excision repair (NER) of DNA by opening DNA around the damage, and in RNA transcription by RNA polymerase II by anchoring the CDK-activating kinase (CAK) complex, composed of CDK7, cyclin H and MAT1, to the core-TFIIH complex. Involved in the regulation of vitamin-D receptor activity. As part of the mitotic spindle-associated MMXD complex it plays a role in chromosome segregation. Might have a role in aging process and could play a causative role in the generation of skin cancers. BC108255 82568960 ERCC2 19 19q13.3 ERCC2 HGNC:3434 true hsa:2068 NP_000391.1:NM_000400.3;NP_001124339.1:NM_001130867.1 Magnesium;4Fe-4S cluster One of the six subunits forming the core-TFIIH basal transcription factor which associates with the CAK complex composed of CDK7, CCNH/cyclin H and MNAT1 to form the TFIIH basal transcription factor. The interaction with GTF2H2 results in the stimulation of the 5'-->3' helicase activity. Component of the MMXD complex, which includes CIAO1, ERCC2, FAM96B, MMS19 and SLC25A5. Interacts with FAM196B; the interaction is direct. Interacts with ATF7IP. Interacts with Epstein-Barr virus EBNA2 2020-06-12T23:07:19Z 2020-07-28T02:29:14Z 0 1 1 3929 CDBP03928 Serine/threonine-protein kinase/endoribonuclease IRE1 O75460 ERN1_HUMAN true false Enzyme Homo_sapiens ERN1 977 109734.1 6.39 Involved in endoribonuclease activity, producing 5'-phosphomonoesters Senses unfolded proteins in the lumen of the endoplasmic reticulum via its N-terminal domain which leads to enzyme auto- activation. The active endoribonuclease domain splices XBP1 mRNA to generate a new C-terminus, converting it into a potent unfolded-protein response transcriptional activator and triggering growth arrest and apoptosis ["1-18"] ["444-464"] NM_001433.3 153946421 ERN1 Chromosome:1 17q24.2 ERN1 HGNC:3449 true 2020-06-12T23:07:19Z 2020-07-28T02:29:14Z 0 0 0 3930 CDBP03929 Serine/threonine-protein kinase/endoribonuclease IRE2 Q76MJ5 ERN2_HUMAN true false Enzyme Homo_sapiens ERN2 926 102465.2 7.13 Involved in endoribonuclease activity, producing 5'-phosphomonoesters Induces translational repression through 28S ribosomal RNA cleavage in response to ER stress. Pro-apoptotic. Appears to play no role in the unfolded-protein response, unlike closely related proteins ["1-34"] ["431-451"] 145312265 ERN2 Chromosome:1 16p12.2 ERN2 HGNC:16942 true 2020-06-12T23:07:19Z 2020-07-28T02:29:14Z 0 0 0 3931 CDBP03930 Eyes absent homolog 1 Q99502 EYA1_HUMAN false false Enzyme Homo_sapiens EYA1 592 64592.905 6.21 Involved in catalytic activity Tyrosine phosphatase that specifically dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph). 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1. Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. Seems to coactivate SIX2, SIX4 and SIX5. May be required for normal development of branchial arches, ear and kidney. NM_000503.4 19923100 EYA1 8 8q13.3 EYA1 HGNC:3519 true hsa:2138 NP_000494.2:NM_000503.4;NP_742055.1:NM_172058.2;NP_742057.1:NM_172060.2 In the embryo, highly expressed in kidney with lower levels in brain. Weakly expressed in lung. In the adult, highly expressed in heart and skeletal muscle. Weakly expressed in brain and liver. No expression in eye or kidney. Mg(2+) ion Probably interacts with SIX2, SIX4 and SIX5 2020-06-12T23:07:19Z 2020-07-28T02:34:07Z 0 1 1 3932 CDBP03931 Eyes absent homolog 2 O00167 EYA2_HUMAN false false Transcription Factor Homo_sapiens EYA2 538 59231.645 6.479 Involved in catalytic activity Tyrosine phosphatase that specifically dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph). 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1. Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. Coactivates SIX1. Seems to coactivate SIX2, SIX4 and SIX5. Together with SIX1 and DACH2 seem to be involved in myogenesis. May be involved in development of the eye. Interaction with GNAZ and GNAI2 prevents nuclear translocation and transcriptional activity. 3GEB;3HB0;3HB1 NM_005244.4 26667227 EYA2 20 20q13.1 EYA2 HGNC:3520 true hsa:2139 NP_005235.3:NM_005244.4;NP_742108.2:NM_172110.3 Highest expression in muscle with lower levels in kidney, placenta, pancreas, brain and heart. Mg(2+) ion Interacts with GNAZ and GNAI2. Interacts with DACH2 and SIX1, and probably with SIX2, SIX4 and SIX5. Interacts with CAPN8 2020-06-12T23:07:19Z 2020-07-28T02:32:07Z 0 0 1 3933 CDBP03932 Eyes absent homolog 3 Q99504 EYA3_HUMAN false false Enzyme Homo_sapiens EYA3 573 62662.3 5.213 Involved in catalytic activity Tyrosine phosphatase that specifically dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph). 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1. Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. Coactivates SIX1, and seems to coactivate SIX2, SIX4 and SIX5. The repression of precursor cell proliferation in myoblasts by SIX1 is switched to activation through recruitment of EYA3 to the SIX1-DACH1 complex and seems to be dependent on EYA3 phosphatase activity (By similarity). May be involved in development of the eye. NM_001990.2 26667243 EYA3 1 1p36 EYA3 HGNC:3521 true hsa:2140 NP_001981.2:NM_001990.3 Mg(2+) ion Interacts with SIX1 and DACH1, and probably SIX2, SIX4, SIX5 2020-06-12T23:07:19Z 2020-07-28T02:34:07Z 0 1 1 3934 CDBP03933 Eyes absent homolog 4 O95677 EYA4_HUMAN false false Enzyme Homo_sapiens EYA4 639 69504.46 5.2 Involved in catalytic activity Tyrosine phosphatase that specifically dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph). 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1. Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. May be involved in development of the eye (By similarity). NM_004100.4 98991760 EYA4 6 6q23 EYA4 HGNC:3522 true hsa:2070 NP_004091.3:NM_004100.4;NP_742101.2:NM_172103.3;NP_742103.1:NM_172105.3 Highly expressed in heart and skeletal muscle. Mg(2+) ion 2020-06-12T23:07:19Z 2020-07-28T02:34:07Z 0 1 1 3935 CDBP03934 Fidgetin-like protein 1 Q6PIW4 FIGL1_HUMAN false false Enzyme Homo_sapiens FIGNL1 674 74076.355 7.851 Involved in nucleotide binding May regulate osteoblast proliferation and differentiation (By similarity). 3D8B AC018705 41393465 FIGNL1 7 7p12.1 FIGNL1 HGNC:13286 true hsa:63979 NP_001036227.1:NM_001042762.1;NP_071399.2:NM_022116.3 Magnesium Hexamer 2020-06-12T23:07:19Z 2020-07-28T02:34:07Z 0 0 0 3936 CDBP03935 Forkhead box protein K2 Q01167 FOXK2_HUMAN false false Transcription Factor Homo_sapiens FOXK2 660 69061.5 10.06 Involved in sequence-specific DNA binding transcription factor activity Recognizes the core sequence 5'-TAAACA-3'. Binds to NFAT-like motifs (purine-rich) in the IL2 promoter. Also binds to HIV-1 long terminal repeat. May be involved in both positive and negative regulation of important viral and cellular promoter elements ["None"] ["None"] 1JXS NM_004514.3 31563338 FOXK2 Chromosome:1 17q25 FOXK2 HGNC:6036 true 2020-06-12T23:07:19Z 2020-07-28T02:32:07Z 0 0 1 3937 CDBP03936 Ras GTPase-activating protein-binding protein 1 Q13283 G3BP1_HUMAN true false Enzyme Homo_sapiens G3BP1 466 52164.045 5.515 Involved in nucleotide binding May be a regulated effector of stress granule assembly. Phosphorylation-dependent sequence-specific endoribonuclease in vitro. Cleaves exclusively between cytosine and adenine and cleaves MYC mRNA preferentially at the 3'-UTR. ATP- and magnesium-dependent helicase. Unwinds preferentially partial DNA and RNA duplexes having a 17 bp annealed portion and either a hanging 3' tail or hanging tails at both 5'- and 3'-ends. Unwinds DNA/DNA, RNA/DNA, and RNA/RNA substrates with comparable efficiency. Acts unidirectionally by moving in the 5' to 3' direction along the bound single-stranded DNA. 3Q90 BC006997 13937794 G3BP1 5 5q33.1 G3BP1 HGNC:30292 true hsa:10146 NP_005745.1:NM_005754.2;NP_938405.1:NM_198395.1 Ubiquitous. Magnesium. Required for helicase activity Binds to the SH3 domain of Ras GTPase-activating protein (RASA1) in proliferating cells. No interaction in quiescent cells Component of a TAU mRNP complex, at least composed of IGF2BP1, ELAVL4 and G3BP1 . Interacts with USP10, and may regulate it. Forms homodimers and oligomers 2020-06-12T23:07:19Z 2020-07-28T02:29:15Z 0 0 0 3938 CDBP03937 Galactose-3-O-sulfotransferase 3 Q96A11 G3ST3_HUMAN true false Enzyme Homo_sapiens GAL3ST3 431 48955.1 10.31 Involved in galactosylceramide sulfotransferase activity Transfers a sulfate to position 3 of non-reducing beta- galactosyl residues in N-glycans and core2-branched O-glycans. Has high activity towards Gal-beta-1,4-GlcNAc, Gal-beta-1,4(Fuc-alpha- 1,3)GlcNAc and lower activity towards Gal-beta-1,3(Fuc-alpha- 1,4)GlcNAc ["None"] ["20-40"] AB053232 14625435 GAL3ST3 Chromosome:1 11q13.1 GAL3ST3 HGNC:24144 true 2020-06-12T23:07:19Z 2020-07-28T02:29:15Z 0 0 0 3939 CDBP03938 Flap endonuclease GEN homolog 1 Q17RS7 GEN_HUMAN true false Enzyme Homo_sapiens GEN1 908 102883.6 7.85 Involved in DNA binding Endonuclease which cleaves flap structures at the junction between single-stranded DNA and double-stranded DNA. Specific for 5'-overhanging flap structures in which the 5'- upstream of the flap is completely double-stranded. Prefers the blocked-flap structures similar to those occurring at replication forks, in which the 5' single-strand overhang of the flap is double-stranded ["None"] ["None"] NM_001130009.1 194018535 GEN1 Chromosome:2 2p24.2 GEN1 HGNC:26881 true 2020-06-12T23:07:19Z 2020-07-28T02:29:15Z 0 0 0 3940 CDBP03939 2-hydroxyacyl-CoA lyase 1 Q9UJ83 HACL1_HUMAN true false Enzyme Homo_sapiens HACL1 578 63728.095 7.354 Involved in magnesium ion binding Catalyzes a carbon-carbon cleavage reaction; cleaves a 2-hydroxy-3-methylacyl-CoA into formyl-CoA and a 2-methyl-branched fatty aldehyde. NM_012260.2 93004078 HACL1 3 3p25.1 HACL1 HGNC:17856 true hsa:26061 HS05516-MONOMER NP_036392.2:NM_012260.2 Expressed in high levels in liver, also expressed in kidney, heart and skeletal muscle. magnesium ion;thiamine pyrophosphate Homotetramer 2020-06-12T23:07:19Z 2020-07-28T02:29:15Z 0 1 0 3941 CDBP03940 DNA helicase B Q8NG08 HELB_HUMAN true false Enzyme Homo_sapiens HELB 1087 123251.38 5.867 Replication, recombination and repair Unwinds duplex DNA with 5'-3' polarity. Has single-strand DNA-dependent ATPase and DNA helicase activities. Prefers ATP and dATP as substrates. During S phase, may facilitate cellular recovery from replication stress. AF319995 21666081 HELB 12 12q HELB HGNC:17196 true hsa:92797 NP_387467.2:NM_033647.3 Highly expressed in testis and thymus and weakly in liver, spleen, kidney and brain. Binds to RPA1; this interaction promotes HELB recruitment to chromatin following DNA damage. Interacts with at least two subunits of pol-prim 2020-06-12T23:07:19Z 2020-07-28T02:29:15Z 0 0 0 3942 CDBP03941 Integrin-linked kinase-associated serine/threonine phosphatase 2C Q9H0C8 ILKAP_HUMAN true false Enzyme Homo_sapiens ILKAP 392 42906.105 7.094 Involved in catalytic activity Protein phosphatase that may play a role in regulation of cell cycle progression via dephosphorylation of its substrates whose appropriate phosphorylation states might be crucial for cell proliferation. Selectively associates with integrin linked kinase (ILK), to modulate cell adhesion and growth factor signaling. Inhibits the ILK-GSK3B signaling axis and may play an important role in inhibiting oncogenic transformation. AC016757 62988949 ILKAP 2 2q37.3 ILKAP HGNC:15566 true hsa:80895 NP_110395.1:NM_030768.2 Widely expressed. Highest levels expressed in striated muscle. Much lower levels evident in various smooth muscle tissues. magnesium or manganese ions Interacts with ILK. Specific association with ILK is independent of the catalytic activity of either partner 2020-06-12T23:07:19Z 2020-07-28T02:29:15Z 0 1 0 3943 CDBP03942 Inositol monophosphatase 3 Q9NX62 IMPA3_HUMAN true false Enzyme Homo_sapiens IMPAD1 359 38681.15 6.864 Involved in inositol or phosphatidylinositol phosphatase activity May play a role in the formation of skeletal elements derived through endochondral ossification, possibly by clearing adenosine 3',5'-bisphosphate produced by Golgi sulfotransferases during glycosaminoglycan sulfation (By similarity). AK000428 7020510 IMPAD1 8 8q12.1 IMPAD1 HGNC:26019 true hsa:54928 HS02567-MONOMER NP_060283.3:NM_017813.4 Magnesium 2020-06-12T23:07:19Z 2020-07-28T02:29:15Z 0 1 0 3944 CDBP03943 Interleukin-1 receptor-associated kinase 1 P51617 IRAK1_HUMAN false false Receptor Homo_sapiens IRAK1 712 76535.9 6.6 Involved in protein binding Binds to the IL-1 type I receptor following IL-1 engagement, triggering intracellular signaling cascades leading to transcriptional up-regulation and mRNA stabilization. Isoform 1 binds rapidly but is then degraded allowing isoform 2 to mediate a slower, more sustained response to the cytokine. Isoform 2 is inactive suggesting that the kinase activity of this enzyme is not required for IL-1 signaling. Once phosphorylated, IRAK1 recruits the adapter protein PELI1 ["None"] ["None"] AF030876 3002590 IRAK1 IRAK1 HGNC:6112 true 2020-06-12T23:07:19Z 2020-07-28T02:29:15Z 1 0 0 3945 CDBP03944 Interleukin-1 receptor-associated kinase 3 Q9Y616 IRAK3_HUMAN false false Receptor Homo_sapiens IRAK3 596 67752.0 6.68 Involved in protein binding Inhibits dissociation of IRAK1 and IRAK4 from the Toll- like receptor signaling complex by either inhibiting the phosphorylation of IRAK1 and IRAK4 or stabilizing the receptor complex ["None"] ["None"] AF113136 5225378 IRAK3 Chromosome:1 12q14.3 IRAK3 HGNC:17020 true 2020-06-12T23:07:19Z 2020-07-28T02:29:15Z 1 0 0 3946 CDBP03945 ATP-sensitive inward rectifier potassium channel 10 P78508 IRK10_HUMAN false true Transporter Homo_sapiens KCNJ10 379 42507.7 8.2 Involved in inward rectifier potassium channel activity May be responsible for potassium buffering action of glial cells in the brain. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium and cesium ["None"] ["65-89", "143-164"] AL513302 55665330 KCNJ10 Chromosome:1 1q23.2 KCNJ10 HGNC:6256 true 2020-06-12T23:07:19Z 2020-07-28T02:32:13Z 0 0 0 3947 CDBP03946 ATP-sensitive inward rectifier potassium channel 12 Q14500 IRK12_HUMAN false true Transporter Homo_sapiens KCNJ12 433 49000.6 5.79 Involved in inward rectifier potassium channel activity Probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium and cesium ["None"] ["81-105", "158-179"] AB074970 21693122 KCNJ12 Chromosome:1 17p11.2 KCNJ12 HGNC:6258 true 2020-06-12T23:07:19Z 2020-07-28T02:32:13Z 0 0 0 3948 CDBP03947 Inward rectifier potassium channel 13 O60928 IRK13_HUMAN false true Transporter Homo_sapiens KCNJ13 360 40529.2 6.23 Involved in inward rectifier potassium channel activity Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. KCNJ13 has a very low single channel conductance, low sensitivity to block by external barium and cesium, and no dependence of its inward rectification properties on the internal blocking particle magnesium ["None"] ["54-78", "134-155"] AJ007557 3650320 KCNJ13 Chromosome:2 2q37 KCNJ13 HGNC:6259 true 2020-06-12T23:07:19Z 2020-07-28T02:32:13Z 0 0 0 3949 CDBP03948 ATP-sensitive inward rectifier potassium channel 14 Q9UNX9 IRK14_HUMAN false true Transporter Homo_sapiens KCNJ14 436 47845.0 5.1 Involved in inward rectifier potassium channel activity Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. KCNJ14 gives rise to low-conductance channels with a low affinity to the channel blockers Barium and Cesium ["None"] ["87-111", "162-183"] AF081466 KCNJ14 Chromosome:1 19q13 KCNJ14 HGNC:6260 true 2020-06-12T23:07:19Z 2020-07-28T02:32:13Z 0 0 0 3950 CDBP03949 ATP-sensitive inward rectifier potassium channel 15 Q99712 IRK15_HUMAN false true Transporter Homo_sapiens KCNJ15 375 42577.0 7.78 Involved in inward rectifier potassium channel activity Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium ["None"] ["64-88", "142-163"] BC013327 15426450 KCNJ15 Chromosome:2 21q22.2 KCNJ15 HGNC:6261 true 2020-06-12T23:07:19Z 2020-07-28T02:32:13Z 0 0 0 3951 CDBP03950 Inward rectifier potassium channel 16 Q9NPI9 IRK16_HUMAN false true Transporter Homo_sapiens KCNJ16 418 47948.6 7.94 Involved in inward rectifier potassium channel activity Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. KCNJ16 may be involved in the regulation of fluid and pH balance ["None"] ["71-95", "146-167"] AF179353 9957532 KCNJ16 Chromosome:1 17q24.3 KCNJ16 HGNC:6262 true 2020-06-12T23:07:19Z 2020-07-28T02:32:13Z 0 0 0 3952 CDBP03951 G protein-activated inward rectifier potassium channel 1 P48549 IRK3_HUMAN false true Transporter Homo_sapiens KCNJ3 501 56602.8 8.36 Involved in inward rectifier potassium channel activity This potassium channel is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. This receptor plays a crucial role in regulating the heartbeat ["None"] ["81-105", "158-179"] 1U4E U39196 KCNJ3 Chromosome:2 2q24.1 KCNJ3 HGNC:6264 true 2020-06-12T23:07:19Z 2020-07-28T02:32:13Z 0 0 0 3953 CDBP03952 Inward rectifier potassium channel 4 P48050 IRK4_HUMAN false true Transporter Homo_sapiens KCNJ4 445 49499.6 6.15 Involved in inward rectifier potassium channel activity This receptor is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium and cesium ["None"] ["56-80", "149-170"] U07364 KCNJ4 Chromosome:2 22q13.1 KCNJ4 HGNC:6265 true 2020-06-12T23:07:20Z 2020-07-28T02:32:13Z 0 0 0 3954 CDBP03953 G protein-activated inward rectifier potassium channel 4 P48544 IRK5_HUMAN false true Transporter Homo_sapiens KCNJ5 419 47667.3 5.03 Involved in inward rectifier potassium channel activity This potassium channel is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by external barium ["None"] ["87-111", "164-185"] NM_000890.3 24797141 KCNJ5 Chromosome:1 11q24 KCNJ5 HGNC:6266 true 2020-06-12T23:07:20Z 2020-07-28T02:32:13Z 0 0 0 3955 CDBP03954 G protein-activated inward rectifier potassium channel 2 P48051 IRK6_HUMAN false true Transporter Homo_sapiens KCNJ6 423 48451.0 5.04 Involved in inward rectifier potassium channel activity This potassium channel may be involved in the regulation of insulin secretion by glucose and/or neurotransmitters acting through G-protein-coupled receptors. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium ["None"] ["90-114", "167-188"] U24660 KCNJ6 Chromosome:2 21q22.1|21q22.1 KCNJ6 HGNC:6267 true 2020-06-12T23:07:20Z 2020-07-28T02:32:13Z 0 0 0 3956 CDBP03955 ATP-sensitive inward rectifier potassium channel 8 Q15842 IRK8_HUMAN false true Transporter Homo_sapiens KCNJ8 424 47967.5 9.7 Involved in inward rectifier potassium channel activity This potassium channel is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by external barium ["None"] ["70-94", "155-176"] D50312 1109634 KCNJ8 Chromosome:1 12p11.23 KCNJ8 HGNC:6269 true 2020-06-12T23:07:20Z 2020-07-28T02:32:13Z 0 0 0 3957 CDBP03956 G protein-activated inward rectifier potassium channel 3 Q92806 IRK9_HUMAN false true Transporter Homo_sapiens KCNJ9 393 44019.4 4.59 Involved in inward rectifier potassium channel activity This receptor is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium ["None"] ["58-82", "135-156"] AF193615 9581856 KCNJ9 Chromosome:1 1q23.2 KCNJ9 HGNC:6270 true 2020-06-12T23:07:20Z 2020-07-28T02:32:13Z 0 0 0 3958 CDBP03957 Mitogen-activated protein kinase kinase kinase 11 Q16584 M3K11_HUMAN true false Enzyme Homo_sapiens MAP3K11 847 92687.0 8.21 Involved in protein kinase activity Activates the JUN N-terminal pathway. Required for serum-stimulated cell proliferation and for mitogen and cytokine activation of MAPK14 (p38), MAPK3 (ERK) and MAPK8 (JNK1). Plays a role in mitogen-stimulated phosphorylation and activation of BRAF, but does not phosphorylate BRAF directly. Influences microtubule organization during the cell cycle ["None"] ["None"] NM_002419.3 4505195 MAP3K11 Chromosome:1 11q13.1-q13.3 MAP3K11 HGNC:6850 true 2020-06-12T23:07:20Z 2020-07-28T02:29:16Z 0 0 0 3959 CDBP03958 Mitogen-activated protein kinase kinase kinase 13 O43283 M3K13_HUMAN true false Enzyme Homo_sapiens MAP3K13 966 108295.1 6.47 Involved in magnesium ion binding Activates the JUN N-terminal pathway through activation of the MAP kinase kinase MAP2K7. Acts synergistically with PRDX3 to regulate the activation of NF-kappa-B in the cytosol. This activation is kinase-dependent and involves activating the IKK complex, the IKBKB-containing complex that phosphorylates inhibitors of NF-kappa-B ["None"] ["None"] AB001872 MAP3K13 Chromosome:3 3q27 MAP3K13 HGNC:6852 true 2020-06-12T23:07:20Z 2020-07-28T02:29:16Z 1 1 0 3960 CDBP03959 Mitogen-activated protein kinase kinase kinase 15 Q6ZN16 M3K15_HUMAN true false Enzyme Homo_sapiens MAP3K15 1313 147435.7 5.35 Involved in protein kinase activity Component of a protein kinase signal transduction cascade ["None"] ["None"] NM_001001671.3 282847398 MAP3K15 MAP3K15 HGNC:31689 true 2020-06-12T23:07:20Z 2020-07-28T02:29:16Z 0 0 0 3961 CDBP03960 Mitogen-activated protein kinase kinase kinase 2 Q9Y2U5 M3K2_HUMAN true false Enzyme Homo_sapiens MAP3K2 619 69740.2 8.14 Involved in protein serine/threonine kinase activity Component of a protein kinase signal transduction cascade. Regulates the JNK and ERK5 pathways by phosphorylating and activating MAP2K5 and MAP2K7. Plays a role in caveolae kiss-and-run dynamics ["None"] ["None"] NM_006609.3 85838511 MAP3K2 Chromosome:2 2q14.3 MAP3K2 HGNC:6854 true 2020-06-12T23:07:20Z 2020-07-28T02:29:16Z 0 0 0 3962 CDBP03961 Mitogen-activated protein kinase kinase kinase 5 Q99683 M3K5_HUMAN true false Enzyme Homo_sapiens MAP3K5 1374 154535.4 5.55 Involved in protein kinase activity Component of a protein kinase signal transduction cascade. Phosphorylates and activates MAP2K4 and MAP2K6, which in turn activate the JNK and p38 MAP kinases, respectively. Overexpression induces apoptotic cell death ["None"] ["None"] AL024508 56202652 MAP3K5 Chromosome:6 6q22.33 MAP3K5 HGNC:6857 true 2020-06-12T23:07:20Z 2020-07-28T02:29:16Z 0 0 0 3963 CDBP03962 Mitogen-activated protein kinase kinase kinase 6 O95382 M3K6_HUMAN true false Enzyme Homo_sapiens MAP3K6 1288 142594.6 7.11 Involved in protein kinase activity Component of a protein kinase signal transduction cascade. Activates the JNK, but not ERK or p38 kinase pathways ["None"] ["None"] AB167411 45421836 MAP3K6 Chromosome:1 1p36.11 MAP3K6 HGNC:6858 true 2020-06-12T23:07:20Z 2020-07-28T02:29:16Z 0 0 0 3964 CDBP03963 Mitogen-activated protein kinase kinase kinase 8 P41279 M3K8_HUMAN true false Enzyme Homo_sapiens MAP3K8 467 52924.0 5.62 Involved in magnesium ion binding Required for TLR4 activation of the MEK/ERK pathway. Able to activate NF-kappa-B 1 by stimulating proteasome-mediated proteolysis of NF-kappa-B 1/p105. Plays a role in the cell cycle. The longer form has some transforming activity, although it is much weaker than the activated cot oncoprotein ["None"] ["None"] NM_005204.2 22035598 MAP3K8 Chromosome:1 10p11.23 MAP3K8 HGNC:6860 true 2020-06-12T23:07:20Z 2020-07-28T02:29:16Z 1 1 0 3965 CDBP03964 Mitogen-activated protein kinase kinase kinase 9 P80192 M3K9_HUMAN true false Enzyme Homo_sapiens MAP3K9 1104 121893.2 5.65 Involved in protein kinase activity Activates the JUN N-terminal pathway ["None"] ["None"] AY327900 33591094 MAP3K9 Chromosome:1 14q24.3-q31 MAP3K9 HGNC:6861 true 2020-06-12T23:07:20Z 2020-07-28T02:29:16Z 0 0 0 3966 CDBP03965 Mitogen-activated protein kinase kinase kinase MLK4 Q5TCX8 M3KL4_HUMAN true false Enzyme Homo_sapiens MLK4 1036 113955.4 8.94 Involved in protein kinase activity Activates the JUN N-terminal pathway ["None"] ["None"] NM_032435.2 155723000 MLK4 true 2020-06-12T23:07:20Z 2020-07-28T02:29:16Z 0 0 0 3967 CDBP03966 Microtubule-associated serine/threonine-protein kinase 3 O60307 MAST3_HUMAN true false Enzyme Homo_sapiens MAST3 1309 143135.6 8.13 Involved in protein serine/threonine kinase activity ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] NM_015016.1 150170729 MAST3 Chromosome:1 19p13.11 MAST3 HGNC:19036 true 2020-06-12T23:07:20Z 2020-07-28T02:29:16Z 0 1 0 3968 CDBP03967 Microtubule-associated serine/threonine-protein kinase 4 O15021 MAST4_HUMAN true false Enzyme Homo_sapiens MAST4 2626 284374.7 8.84 Involved in protein serine/threonine kinase activity ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] 38488767 MAST4 Chromosome:5 5q12.3 MAST4 HGNC:19037 true 2020-06-12T23:07:20Z 2020-07-28T02:29:17Z 0 1 0 3969 CDBP03968 Misshapen-like kinase 1 Q8N4C8 MINK1_HUMAN true false Enzyme Homo_sapiens MINK1 1332 149820.6 7.95 Involved in small GTPase regulator activity Serine/threonine kinase that may play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway. May play a role in the development of the brain ["None"] ["None"] NM_153827.4 27436917 MINK1 Chromosome:1 17p13.2 MINK1 HGNC:17565 true 2020-06-12T23:07:20Z 2020-07-28T02:29:17Z 0 0 0 3970 CDBP03969 Mitogen-activated protein kinase kinase kinase MLT Q9NYL2 MLTK_HUMAN true false Enzyme Homo_sapiens MLTK 800 91180.4 7.95 Involved in protein kinase activity Stress-activated component of a protein kinase signal transduction cascade. Regulates the JNK and p38 pathways. Pro- apoptotic. Role in regulation of S and G2 cell cycle checkpoint by direct phosphorylation of CHEK2. Isoform 1, but not isoform 2, causes cell shrinkage and disruption of actin stress fibers. Isoform 1 may have role in neoplastic cell transformation and cancer development. Isoform 1, but not isoform 2, phosphorylates histone H3 at 'Ser-28' ["None"] ["None"] AB030034 9927293 MLTK true 2020-06-12T23:07:20Z 2020-07-28T02:29:17Z 0 0 0 3971 CDBP03970 Dual specificity mitogen-activated protein kinase kinase 5 Q13163 MP2K5_HUMAN true false Enzyme Homo_sapiens MAP2K5 448 50111.4 6.35 Involved in protein kinase activity Acts as a scaffold for the formation of a ternary MAP3K2/MAP3K3-MAP3K5-MAPK7 signaling complex. Activation of this pathway appear to play a critical role in protecting cells from stress-induced apopotosis, neuronal survival and cardiac development and angiogenesis ["None"] ["None"] BC008838 14250738 MAP2K5 Chromosome:1 15q23 MAP2K5 HGNC:6845 true 2020-06-12T23:07:20Z 2020-07-28T02:29:17Z 0 0 0 3972 CDBP03971 Dual specificity mitogen-activated protein kinase kinase 7 O14733 MP2K7_HUMAN true false Enzyme Homo_sapiens MAP2K7 419 47484.5 9.62 Involved in protein kinase activity Stress activated, dual specificity kinase that activates the JUN kinases MAPK8/JNK1, MAPK9/JNK2 and MAPK10/JNK3 ["None"] ["None"] NM_145185.2 21735544 MAP2K7 Chromosome:1 19p13.3-p13.2 MAP2K7 HGNC:6847 true 2020-06-12T23:07:20Z 2020-07-28T02:29:17Z 0 0 0 3973 CDBP03972 Magnesium transporter MRS2 homolog, mitochondrial Q9HD23 MRS2_HUMAN false true Transporter Homo_sapiens MRS2 443 50317.01 6.877 Involved in ion transport Magnesium transporter that may mediate the influx of magnesium into the mitochondrial matrix. AF288288 9858855 MRS2 6 6p22.3-p22.1 MRS2 HGNC:13785 true hsa:57380 NP_065713.1:NM_020662.2 2020-06-12T23:07:20Z 2020-07-28T02:32:13Z 0 0 0 3974 CDBP03973 Serine/threonine-protein kinase MST4 Q9P289 MST4_HUMAN true false Enzyme Homo_sapiens MST4 416 46528.4 4.93 Involved in protein kinase activity Mediator of cell growth. Modulates apoptosis ["None"] ["None"] AF231012 13702675 MST4 MST4 HGNC:11406 true 2020-06-12T23:07:20Z 2020-07-28T02:29:17Z 0 0 0 3975 CDBP03974 Crossover junction endonuclease MUS81 Q96NY9 MUS81_HUMAN true false Enzyme Homo_sapiens MUS81 551 61172.4 10.22 Involved in DNA binding Interacts with EME1 and EME2 to form a DNA structure- specific endonuclease with substrate preference for branched DNA structures with a 5'-end at the branch nick. Typical substrates include 3'-flap structures, replication forks and nicked Holliday junctions. May be required in mitosis for the processing of stalled or collapsed replication forks ["None"] ["None"] AF425646 16755672 MUS81 Chromosome:1 11q13 MUS81 HGNC:29814 true 2020-06-12T23:07:20Z 2020-07-28T02:29:17Z 0 0 0 3976 CDBP03975 Putative myosin light chain kinase 3 Q32MK0 MYLK3_HUMAN true false Enzyme Homo_sapiens MYLK3 819 88392.2 6.03 Involved in protein serine/threonine kinase activity May play a role in smooth muscle contraction ["None"] ["None"] NM_182493.2 146219832 MYLK3 Chromosome:1 16q11.2 MYLK3 HGNC:29826 true 2020-06-12T23:07:20Z 2020-07-28T02:29:17Z 0 0 0 3977 CDBP03976 Putative nucleoside diphosphate kinase O60361 NDK8_HUMAN true false Enzyme Homo_sapiens NME2P1 137 15529.0 8.83 Involved in nucleoside diphosphate kinase activity Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate ["None"] ["None"] 1NSK AC004263 2935619 NME2P1 Chromosome:1 12q24.31 NME2P1 HGNC:31358 true 2020-06-12T23:07:20Z 2020-07-28T02:29:17Z 0 0 0 3978 CDBP03977 Serine/threonine-protein kinase Nek10 Q6ZWH5 NEK10_HUMAN true false Enzyme Homo_sapiens NEK10 1172 133227.6 6.8 Involved in binding ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] 207029299 NEK10 Chromosome:3 3p24.1 NEK10 HGNC:18592 true 2020-06-12T23:07:20Z 2020-07-28T02:29:17Z 0 0 0 3979 CDBP03978 Serine/threonine-protein kinase Nek11 Q8NG66 NEK11_HUMAN true false Enzyme Homo_sapiens NEK11 645 74161.6 4.74 Involved in protein kinase activity Possible role in S-phase checkpoint mechanism ["None"] ["None"] AB071996 21955952 NEK11 Chromosome:3 3q22.1 NEK11 HGNC:18593 true 2020-06-12T23:07:20Z 2020-07-28T02:29:17Z 0 0 0 3980 CDBP03979 Serine/threonine-protein kinase Nek5 Q6P3R8 NEK5_HUMAN true false Enzyme Homo_sapiens NEK5 708 81444.9 9.18 Involved in protein kinase activity ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] AL139082 123247885 NEK5 Chromosome:1 13q14.3 NEK5 HGNC:7748 true 2020-06-12T23:07:20Z 2020-07-28T02:29:17Z 0 0 0 3981 CDBP03980 Serine/threonine-protein kinase NIM1 Q8IY84 NIM1_HUMAN true false Enzyme Homo_sapiens NIM1 436 49605.7 8.53 Involved in protein kinase activity ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] AK122985 193784680 NIM1 true 2020-06-12T23:07:20Z 2020-07-28T02:29:17Z 0 0 0 3982 CDBP03981 Sphingomyelin phosphodiesterase 4 Q9NXE4 NSMA3_HUMAN true false Enzyme Homo_sapiens SMPD4 827 86192.575 8.646 Involved in metal ion binding Catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide. 102467481 SMPD4 2 2q21.1 SMPD4 HGNC:32949 true hsa:55627 NP_001164554.1:NM_001171083.2;NP_060221.2:NM_017751.4 Widely expressed, with highest levels in heart and skeletal muscle. Magnesium 2020-06-12T23:07:20Z 2020-07-28T02:29:18Z 0 1 0 3983 CDBP03982 5'-nucleotidase domain-containing protein 3 Q86UY8 NT5D3_HUMAN true false Enzyme Homo_sapiens NT5DC3 548 63419.3 8.47 Involved in hydrolase activity ["None"] ["None"] NM_001031701.2 72534692 NT5DC3 Chromosome:1 12q22-q23.1 NT5DC3 HGNC:30826 true 2020-06-12T23:07:20Z 2020-07-28T02:29:18Z 0 0 0 3984 CDBP03983 NUAK family SNF1-like kinase 2 Q9H093 NUAK2_HUMAN true false Enzyme Homo_sapiens NUAK2 628 69611.5 9.2 Involved in protein kinase activity Stress-activated kinase involved in tolerance to glucose starvation. Induces cell-cell detachment by increasing F-actin conversion to G-actin. Expression is induced by CD95 or TNF-alpha, via NF-kappa-B. Protects cells from CD95-mediated apoptosis and is required for the increased motility and invasiveness of CD95- activated tumor cells ["None"] ["None"] AK074830 22760532 NUAK2 Chromosome:1 1q32.1 NUAK2 HGNC:29558 true 2020-06-12T23:07:20Z 2020-07-28T02:29:18Z 0 0 0 3985 CDBP03984 Endonuclease G, mitochondrial Q14249 NUCG_HUMAN true false Enzyme Homo_sapiens ENDOG 297 32646.0 9.83 Involved in nucleic acid binding Cleaves DNA at double-stranded (DG)n.(DC)n and at single-stranded (DC)n tracts. In addition to deoxyribonuclease activities, also has ribonuclease (RNase) and RNase H activities. Capable of generating the RNA primers required by DNA polymerase gamma to initiate replication of mitochondrial DNA ["None"] ["None"] AL441992 55960038 ENDOG Chromosome:9 9q34.1 ENDOG HGNC:3346 true 2020-06-12T23:07:20Z 2020-07-28T02:29:18Z 0 1 0 3986 CDBP03985 Diphosphoinositol polyphosphate phosphohydrolase 3-alpha Q8NFP7 NUD10_HUMAN true false Enzyme Homo_sapiens NUDT10 164 18499.765 5.678 Involved in hydrolase activity Cleaves a beta-phosphate from the diphosphate groups in PP-InsP5 (diphosphoinositol pentakisphosphate), suggesting that it may play a role in signal transduction. Also able to catalyze the hydrolysis of dinucleoside oligophosphates, with Ap6A and Ap5A being the preferred substrates. The major reaction products are ADP and p4a from Ap6A and ADP and ATP from Ap5A. Also able to hydrolyze 5-phosphoribose 1-diphosphate. 3MCF AF469196 21591549 NUDT10 X Xp11.23 NUDT10 HGNC:17621 true hsa:170685 HS04604-MONOMER NP_694853.1:NM_153183.2 Mainly expressed in testis and, at lower level in brain. According to PubMed:12121577, it is widely expressed. magnesium or manganese ions . Manganese may be the true cofactor in vivo 2020-06-12T23:07:20Z 2020-07-28T02:29:18Z 0 1 0 3987 CDBP03986 Diphosphoinositol polyphosphate phosphohydrolase 3-beta Q96G61 NUD11_HUMAN true false Enzyme Homo_sapiens NUDT11 164 18558.835 5.98 Involved in hydrolase activity Cleaves a beta-phosphate from the diphosphate groups in PP-InsP5 (diphosphoinositol pentakisphosphate), suggesting that it may play a role in signal transduction. Also able to catalyze the hydrolysis of dinucleoside oligophosphates, with Ap6A and Ap5A being the preferred substrates. The major reaction products are ADP and p4a from Ap6A and ADP and ATP from Ap5A. Also able to hydrolyze 5-phosphoribose 1-diphosphate. AK001490 7022779 NUDT11 X Xp11.22 NUDT11 HGNC:18011 true hsa:55190 HS05381-MONOMER NP_060629.2:NM_018159.3 Mainly expressed in testis and, at lower level in brain. According to PubMed:12121577, it is also expressed in pancreas and weakly expressed in thymus, prostate, ovary, lung, small intestine and heart. magnesium or manganese ions . Manganese may be the true cofactor in vivo 2020-06-12T23:07:20Z 2020-07-28T02:29:18Z 0 1 0 3988 CDBP03987 Probable 8-oxo-dGTP diphosphatase NUDT15 Q9NV35 NUD15_HUMAN true false Enzyme Homo_sapiens NUDT15 164 18608.965 6.133 Involved in hydrolase activity Mediates the hydrolysis of some nucleoside diphosphate derivatives. Can degrade 8-oxo-dGTP in vitro, suggesting that it may remove an oxidatively damaged form of guanine (7,8-dihydro-8-oxoguanine) from DNA and the nucleotide pool, thereby preventing misincorporation of 8-oxo-dGTP into DNA thus preventing A:T to C:G transversions. Its substrate specificity in vivo however remains unclear (By similarity). May have a role in DNA synthesis and cell cycle progression through the interaction with PCNA. AK001818 7023325 NUDT15 13 13q14.2 NUDT15 HGNC:23063 true hsa:55270 NP_060753.1:NM_018283.1 Magnesium or manganese. Magnesium may be the real cofactor in vivo Interacts with PCNA; interaction is disrupted in response to UV irradiation 2020-06-12T23:07:20Z 2020-07-28T02:29:18Z 0 1 0 3989 CDBP03988 Nucleoside diphosphate-linked moiety X motif 17 P0C025 NUD17_HUMAN false false Enzyme Homo_sapiens NUDT17 328 35923.1 6.63 Involved in hydrolase activity Probably mediates the hydrolysis of some nucleoside diphosphate derivatives ["None"] ["None"] NM_001012758.2 62543567 NUDT17 Chromosome:1 1q21.1 NUDT17 HGNC:26618 true 2020-06-12T23:07:20Z 2020-07-28T02:34:08Z 0 0 0 3990 CDBP03989 8-oxo-dGDP phosphatase NUDT18 Q6ZVK8 NUD18_HUMAN true false Enzyme Homo_sapiens NUDT18 323 35500.76 6.227 Involved in hydrolase activity Mediates the hydrolyzis of oxidized nucleoside diphosphate derivatives. Hydrolyzes 8-oxo-7,8-dihydroguanine (8-oxo-Gua)-containing deoxyribo- and ribonucleoside diphosphates to the monophosphates. Hydrolyzes 8-oxo-dGDP and 8-oxo-GDP with the same efficiencies. Hydrolyzes also 8-OH-dADP and 2-OH-dADP. Exhibited no or minimal hydrolyzis activity against 8-oxo-dGTP, 8-oxo-GTP, dGTP, GTP, dGDP and GDP. Probably removes oxidized guanine nucleotides from both the DNA and RNA precursor pools. 3GG6 NM_024815.3 118026927 NUDT18 8 8p21.3 NUDT18 HGNC:26194 true hsa:79873 NP_079091.3:NM_024815.3 Manganese . Magnesium 2020-06-12T23:07:20Z 2020-07-28T02:29:18Z 0 0 0 3991 CDBP03990 Nucleoside diphosphate-linked moiety X motif 19, mitochondrial A8MXV4 NUD19_HUMAN false false Enzyme Homo_sapiens NUDT19 375 42232.8 7.7 Involved in hydrolase activity Coenzyme A diphosphatase that mediates the hydrolysis of a wide range of CoA esters, including choloyl-CoA and branched- chain fatty-acyl-CoA esters. At low substrate concentrations medium and long-chain fatty-acyl-CoA esters are the primary substrates ["None"] ["None"] NM_001105570.1 157739940 NUDT19 Chromosome:1 19q13.11 NUDT19 HGNC:32036 true 2020-06-12T23:07:20Z 2020-07-28T02:34:08Z 0 0 0 3992 CDBP03991 Diphosphoinositol polyphosphate phosphohydrolase 1 O95989 NUDT3_HUMAN true false Enzyme Homo_sapiens NUDT3 172 19470.855 6.345 Involved in hydrolase activity Cleaves a beta-phosphate from the diphosphate groups in PP-InsP5 (diphosphoinositol pentakisphosphate) and [PP]2-InsP4 (bisdiphosphoinositol tetrakisphosphate), suggesting that it may play a role in signal transduction. InsP6 (inositol hexakisphophate) is not a substrate. Acts as a negative regulator of the ERK1/2 pathway. Also able to catalyze the hydrolysis of dinucleoside oligophosphates, with Ap6A and Ap5A being the preferred substrates. The major reaction products are ADP and p4a from Ap6A and ADP and ATP from Ap5A. Also able to hydrolyze 5-phosphoribose 1-diphosphate. 2FVV;2Q9P AF062529 NUDT3 6 6p21.2 NUDT3 HGNC:8050 true hsa:11165 HS03602-MONOMER NP_006694.1:NM_006703.3 Widely expressed. Expressed at higher level in brain, heart, pancreas and liver. Also expressed in placenta, lung and kidney. magnesium ions Monomer 2020-06-12T23:07:20Z 2020-07-28T02:29:18Z 0 0 0 3993 CDBP03992 Diphosphoinositol polyphosphate phosphohydrolase 2 Q9NZJ9 NUDT4_HUMAN true false Enzyme Homo_sapiens NUDT4 180 20305.895 6.351 Involved in hydrolase activity Cleaves a beta-phosphate from the diphosphate groups in PP-InsP5 (diphosphoinositol pentakisphosphate), PP-InsP4 and [PP]2-InsP4 (bisdiphosphoinositol tetrakisphosphate), suggesting that it may play a role in signal transduction. Also able to catalyze the hydrolysis of dinucleoside oligophosphate Ap6A, but not Ap5A. The major reaction products are ADP and p4a from Ap6A. Also able to hydrolyze 5-phosphoribose 1-diphosphate. NM_019094.4 40317632 NUDT4 12 12q21 NUDT4 HGNC:8051 true hsa:11163 HS10696-MONOMER NP_061967.3:NM_019094.4;NP_950241.1:NM_199040.2;XP_003846564.2:XM_003846516.2 Expressed in heart and, at lower level in skeletal muscle, pancreas and kidney. magnesium or manganese ions 2020-06-12T23:07:20Z 2020-07-28T02:29:18Z 0 1 0 3994 CDBP03993 Peroxisomal coenzyme A diphosphatase NUDT7 P0C024 NUDT7_HUMAN true false Enzyme Homo_sapiens NUDT7 238 26941.9 7.06 Involved in hydrolase activity Coenzyme A diphosphatase which mediates the cleavage of CoA, CoA esters and oxidized CoA with similar efficiencies, yielding 3',5'-ADP and the corresponding 4'-phosphopantetheine derivative as products. CoA into 3',5'-ADP and 4'- phosphopantetheine. Has no activity toward NDP-sugars, CDP- alcohols, (deoxy)nucleoside 5'-triphosphates, nucleoside 5'-di or monophosphates, diadenosine polyphosphates, NAD, NADH, NADP, NADPH or thymidine-5'-monophospho-p-nitrophenyl ester. May be required to eliminate oxidized CoA from peroxisomes, or regulate CoA and acyl-CoA levels in this organelle in response to metabolic demand ["None"] ["None"] NM_001105663.1 157785656 NUDT7 Chromosome:1 16q23.1 NUDT7 HGNC:8054 true 2020-06-12T23:07:20Z 2020-07-28T02:29:18Z 0 1 0 3995 CDBP03994 Nucleoside diphosphate-linked moiety X motif 8, mitochondrial Q8WV74 NUDT8_HUMAN false false Enzyme Homo_sapiens NUDT8 236 25370.0 8.5 Involved in hydrolase activity Probably mediates the hydrolysis of some nucleoside diphosphate derivatives ["None"] ["None"] AK123561 34529139 NUDT8 Chromosome:1 11q13.2 NUDT8 HGNC:8055 true 2020-06-12T23:07:20Z 2020-07-28T02:34:08Z 0 0 0 3996 CDBP03995 Obscurin Q5VST9 OBSCN_HUMAN false false Enzyme Homo_sapiens OBSCN 7968 868476.2 5.85 Involved in Rho guanyl-nucleotide exchange factor activity Involved in myofibrillogenesis. Seems to be involved in assembly of myosin into sarcomeric A bands in striated muscle. Isoform 3 together with ANK1 isoform Mu17/Ank1.5 may provide a molecular link between the sarcoplasmic reticulum and myofibrils ["None"] ["None"] NM_001098623.1 148833506 OBSCN Chromosome:1 1q42.13 OBSCN HGNC:15719 true 2020-06-12T23:07:20Z 2020-07-28T02:34:08Z 0 0 0 3997 CDBP03996 [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial Q9P0J1 PDP1_HUMAN true false Enzyme Homo_sapiens PDP1 537 63694.735 6.822 Involved in catalytic activity Catalyzes the dephosphorylation and concomitant reactivation of the alpha subunit of the E1 component of the pyruvate dehydrogenase complex (By similarity). NM_001161781.1 239985428 PDP1 8 8q22.1 PDP1 HGNC:9279 true hsa:54704 NP_001155251.1:NM_001161779.1;NP_001155252.1:NM_001161780.1;NP_001155253.1:NM_001161781.1;NP_060914.2:NM_018444.3 magnesium ions Heterodimer of a catalytic (PDP1) and a regulatory (PDPR) subunit 2020-06-12T23:07:20Z 2020-07-28T02:29:18Z 0 0 0 3998 CDBP03997 Pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial Q8NCN5 PDPR_HUMAN true false Enzyme Homo_sapiens PDPR 879 99363.7 6.31 Involved in oxidoreductase activity Decreases the sensitivity of PDP1 to magnesium ions, and this inhibition is reversed by the polyamine spermine ["None"] ["None"] NM_017990.3 194306651 PDPR Chromosome:1 16q22.1 PDPR HGNC:55066 true 2020-06-12T23:07:20Z 2020-07-28T02:29:18Z 0 0 0 3999 CDBP03998 Phosphoglucomutase-like protein 5 Q15124 PGM5_HUMAN true false Enzyme Homo_sapiens PGM5 567 62224.6 7.23 Involved in intramolecular transferase activity, phosphotransferases Component of adherens-type cell-cell and cell-matrix junctions. Lacks phosphoglucomutase activity ["None"] ["None"] AK297108 194386108 PGM5 Chromosome:9 9q13 PGM5 HGNC:8908 true 2020-06-12T23:07:20Z 2020-07-28T02:29:18Z 0 1 0 4000 CDBP03999 Pyridoxal phosphate phosphatase PHOSPHO2 Q8TCD6 PHOP2_HUMAN true false Enzyme Homo_sapiens PHOSPHO2 241 27768.72 6.781 Involved in phosphatase activity Phosphatase that has high activity toward pyridoxal 5'-phosphate (PLP). Also active at much lower level toward pyrophosphate, phosphoethanolamine (PEA), phosphocholine (PCho), phospho-l-tyrosine, fructose-6-phosphate, p-nitrophenyl phosphate, and h-glycerophosphate. NM_001008489.2 56606064 PHOSPHO2 2 2q31.1 PHOSPHO2 HGNC:28316 true hsa:493911 NP_001008489.1:NM_001008489.3;NP_001186214.1:NM_001199285.1;NP_001186215.1:NM_001199286.1;NP_001186216.1:NM_001199287.1;NP_001186217.1:NM_001199288.1 Magnesium 2020-06-12T23:07:20Z 2020-07-28T02:29:19Z 0 1 0 4001 CDBP04000 Nuclear inhibitor of protein phosphatase 1 Q12972 PP1R8_HUMAN true false Enzyme Homo_sapiens PPP1R8 351 38478.5 7.42 Involved in DNA binding Isoform Gamma is a site-specific single-strand endoribonuclease that cleaves single strand RNA 3' to purines and pyrimidines in A+U-rich regions. It generates 5'-phosphate termini at the site of cleavage. This isoform does not inhibit PP-1. May be implicated in mRNA splicing ["None"] ["None"] AF061958 4883485 PPP1R8 Chromosome:1 1p35 PPP1R8 HGNC:9296 true 2020-06-12T23:07:20Z 2020-07-28T02:29:19Z 0 0 0 4002 CDBP04001 Protein phosphatase 1A P35813 PPM1A_HUMAN true false Enzyme Homo_sapiens PPM1A 382 42447.455 5.363 Involved in catalytic activity Enzyme with a broad specificity. Negatively regulates TGF-beta signaling through dephosphorylating SMAD2 and SMAD3, resulting in their dissociation from SMAD4, nuclear export of the SMADs and termination of the TGF-beta-mediated signaling. 1A6Q;3FXJ;3FXK;3FXL;3FXM;3FXO AB451247 197692195 PPM1A 14 14q23.1 PPM1A HGNC:9275 true hsa:5494 NP_066283.1:NM_021003.4;NP_808820.1:NM_177951.2;NP_808821.2:NM_177952.2 magnesium or manganese ions Monomer. Interacts with SMAD2; the interaction dephosphorylates SMAD2 in its C-terminal SXS motif resulting in disruption of the SMAD2/SMAD4 complex, SMAD2 nuclear export and termination of the TGF-beta-mediated signaling. Interacts with SMAD2; the interaction dephosphorylates SMAD2 in its C-terminal SXS motif resulting in disruption of the SMAD2/SMAD4 complex, SMAD2 nuclear export and termination of the TGF-beta-mediated signaling 2020-06-12T23:07:20Z 2020-07-28T02:29:19Z 1 1 1 4003 CDBP04002 Protein phosphatase 1B O75688 PPM1B_HUMAN true false Enzyme Homo_sapiens PPM1B 479 36312.44 5.468 Involved in catalytic activity Enzyme with a broad specificity. Dephosphorylates CDK2 and CDK6 in vitro. 2P8E NM_002706.4 4505995 PPM1B 2 2p21 PPM1B HGNC:9276 true hsa:5495 NP_001028728.1:NM_001033556.1;NP_001028729.1:NM_001033557.1;NP_002697.1:NM_002706.4;NP_808907.1:NM_177968.2;NP_808908.1:NM_177969.2 Highly expressed in heart and skeletal muscle. magnesium or manganese ions Monomer . Interacts with PAK6 2020-06-12T23:07:20Z 2020-07-28T02:29:19Z 0 1 0 4004 CDBP04003 Protein phosphatase 1D O15297 PPM1D_HUMAN true false Enzyme Homo_sapiens PPM1D 605 66674.59 8.938 Involved in catalytic activity Required for the relief of p53-dependent checkpoint mediated cell cycle arrest. Binds to and dephosphorylates 'Ser-15' of TP53 and 'Ser-345' of CHEK1 which contributes to the functional inactivation of these proteins. BC016480 16741289 PPM1D 17 17q23.2 PPM1D HGNC:9277 true hsa:8493 NP_003611.1:NM_003620.3 magnesium or manganese ions Interacts with CHEK1 and CHEK2; dephosphorylates them 2020-06-12T23:07:20Z 2020-07-28T02:29:19Z 0 1 0 4005 CDBP04004 Protein phosphatase 1E Q8WY54 PPM1E_HUMAN true false Enzyme Homo_sapiens PPM1E 766 Involved in catalytic activity Protein phosphatase that inactivates multifunctional CaM kinases such as CAMK4 and CAMK2 (By similarity). Dephosphorylates and inactivates PAK. May play a role in the inhibition of actin fiber stress breakdown and in morphological changes driven by TNK2/CDC42. AF260269 7839557 PPM1E PPM1E HGNC:19322 true magnesium or manganese ions Heterotrimer. Interacts with PAX1 and ARHGEF6 (or ARHGEF7) 2020-06-12T23:07:20Z 2020-07-28T02:29:19Z 0 1 0 4006 CDBP04005 Protein phosphatase 1F P49593 PPM1F_HUMAN true false Enzyme Homo_sapiens PPM1F 454 49830.435 5.094 Involved in catalytic activity Dephosphorylates and concomitantly deactivates CaM-kinase II activated upon autophosphorylation, and CaM-kinases IV and I activated upon phosphorylation by CaM-kinase kinase. Promotes apoptosis. AF305840 16223994 PPM1F 22 22q11.22 PPM1F HGNC:19388 true hsa:9647 NP_055449.1:NM_014634.3 magnesium or manganese ions Associates with FEM1B 2020-06-12T23:07:20Z 2020-07-28T02:29:19Z 0 1 1 4007 CDBP04006 Protein phosphatase 1G O15355 PPM1G_HUMAN true false Enzyme Homo_sapiens PPM1G 546 59271.115 4.359 Involved in catalytic activity BC000057 12652623 PPM1G 2 2p23.3 PPM1G HGNC:9278 true hsa:5496 NP_817092.1:NM_177983.2 Widely expressed. Most abundant in testis, skeletal muscle, and heart. magnesium or manganese ions 2020-06-12T23:07:20Z 2020-07-28T02:29:19Z 0 1 0 4008 CDBP04007 Protein phosphatase 1K, mitochondrial Q8N3J5 PPM1K_HUMAN true false Enzyme Homo_sapiens PPM1K 372 40996.965 6.742 Involved in catalytic activity Regulates the mitochondrial permeability transition pore and is essential for cellular survival and development. 2IQ1;4DA1 NM_152542.3 167466276 PPM1K 4 4q22.1 PPM1K HGNC:25415 true hsa:152926 NP_689755.3:NM_152542.4 magnesium or manganese ion 2020-06-12T23:07:20Z 2020-07-28T02:29:19Z 0 1 0 4009 CDBP04008 Protein phosphatase 1L Q5SGD2 PPM1L_HUMAN true false Enzyme Homo_sapiens PPM1L 360 41052.605 5.876 Involved in catalytic activity Acts as a suppressor of the SAPK signaling pathways by associating with and dephosphorylating MAP3K7/TAK1 and MAP3K5, and by attenuating the association between MAP3K7/TAK1 and MAP2K4 or MAP2K6. NM_139245.2 63003905 PPM1L 3 3q26.1 PPM1L HGNC:16381 true hsa:151742 NP_640338.2:NM_139245.2 Ubiquitous. Highly expressed in heart, placenta, lung, liver, kidney and pancreas. magnesium or manganese ions Interacts with MAP3K7/TAK1 . Interacts with MAP3K5 2020-06-12T23:07:20Z 2020-07-28T02:29:19Z 1 1 0 4010 CDBP04009 Protein phosphatase 1M Q96MI6 PPM1M_HUMAN true false Enzyme Homo_sapiens PPM1M 270 27922.48 5.629 Involved in catalytic activity AK056894 16552416 PPM1M 3 3p21.2 PPM1M HGNC:26506 true hsa:132160 NP_001116342.1:NM_001122870.2;NP_653242.3:NM_144641.3 Magnesium or manganese 2020-06-12T23:07:20Z 2020-07-28T02:29:19Z 0 0 0 4011 CDBP04010 Protein phosphatase PTC7 homolog Q8NI37 PPTC7_HUMAN true false Enzyme Homo_sapiens PPTC7 304 32645.405 5.18 Involved in catalytic activity AF385435 21205864 PPTC7 12 12q24.11 PPTC7 HGNC:30695 true hsa:160760 NP_644812.1:NM_139283.1 Magnesium or manganese 2020-06-12T23:07:20Z 2020-07-28T02:29:19Z 0 1 0 4012 CDBP04011 L-seryl-tRNA(Sec) kinase Q8IV42 PSTK_HUMAN true false Enzyme Homo_sapiens PSTK 348 39526.2 8.36 Involved in ATP binding Specifically phosphorylates seryl-tRNA(Sec) to O- phosphoseryl-tRNA(Sec), an activated intermediate for selenocysteine biosynthesis ["None"] ["None"] NM_153336.2 224465209 PSTK Chromosome:1 10q26.13 PSTK HGNC:28578 true 2020-06-12T23:07:20Z 2020-07-28T02:29:19Z 0 0 0 4013 CDBP04012 Serine/threonine-protein kinase SIK3 Q9Y2K2 SIK3_HUMAN true false Enzyme Homo_sapiens SIK3 1263 139978.9 6.69 Involved in protein kinase activity ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] NM_025164.3 38569491 SIK3 Chromosome:1 11q23.3 SIK3 HGNC:29165 true 2020-06-12T23:07:20Z 2020-07-28T02:29:19Z 0 0 0 4014 CDBP04013 V(D)J recombination-activating protein 1 P15918 RAG1_HUMAN false false Metal Binding Homo_sapiens RAG1 1043 119115.0 8.88 Involved in zinc ion binding Catalytic component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes in developing B and T lymphocytes through rearrangement of different V (variable), in some cases D (diversity), and J (joining) gene segments. In the RAG complex, RAG1 mediates the DNA-binding to the conserved recombination signal sequences (RSS) and catalyzes the DNA cleavage activities by introducing a double-strand break between the RSS and the adjacent coding segment. RAG2 is not a catalytic component but is required for all known catalytic activities. DNA cleavage occurs in 2 steps:a first nick is introduced in the top strand immediately upstream of the heptamer, generating a 3'- hydroxyl group that can attack the phosphodiester bond on the opposite strand in a direct transesterification reaction, thereby creating 4 DNA ends:2 hairpin coding ends and 2 blunt, 5'- phosphorylated ends. The chromatin structure plays an essential role in the V(D)J recombination reactions and the presence of histone H3 trimethylated at 'Lys-4' (H3K4me3) stimulates both the nicking and haipinning steps. The RAG complex also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B lymphocytes. The introduction of DNA breaks by the RAG complex on one immunoglobulin allele induces ATM-dependent repositioning of the other allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. In addition to its endonuclease activity, RAG1 also acts as a E3 ubiquitin-protein ligase that mediates monoubiquitination of histone H3. Histone H3 monoubiquitination is required for the joining step of V(D)J recombination. Mediates polyubiquitination of KPNA1 ["None"] ["None"] 1RMD M29474 190843 RAG1 Chromosome:1 11p13 RAG1 HGNC:9831 true 2020-06-12T23:07:20Z 2020-07-28T02:32:05Z 0 1 0 4015 CDBP04014 ATP-dependent DNA helicase Q1 P46063 RECQ1_HUMAN true false Enzyme Homo_sapiens RECQL 649 73456.78 7.89 Involved in nucleic acid binding DNA helicase that may play a role in the repair of DNA that is damaged by ultraviolet light or other mutagens. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction. 2V1X;2WWY NM_002907.3 14591904 RECQL 12 12p12 RECQL HGNC:9948 true hsa:5965 NP_002898.2:NM_002907.3;NP_116559.1:NM_032941.2 High expression in heart, lung, skeletal muscle and kidney, low expression in brain. Interacts with EXO1 and MLH1 2020-06-12T23:07:20Z 2020-07-28T02:29:20Z 0 0 0 4016 CDBP04015 Rho-related GTP-binding protein RhoV Q96L33 RHOV_HUMAN false false Enzyme Homo_sapiens RHOV 236 26216.9 8.14 Involved in GTP binding Plays a role in the control of the actin cytoskeleton via activation of the JNK pathway ["None"] ["None"] AB079131 19570848 RHOV Chromosome:1 15q13.3 RHOV HGNC:18313 true 2020-06-12T23:07:20Z 2020-07-28T02:34:08Z 0 0 0 4017 CDBP04016 2-5A-dependent ribonuclease Q05823 RN5A_HUMAN true false Enzyme Homo_sapiens RNASEL 741 83532.1 6.64 Involved in endoribonuclease activity, producing 5'-phosphomonoesters Endoribonuclease that functions in the interferon (IFN) antiviral response. In INF treated and virus infected cells, RNASEL probably mediates its antiviral effects through a combination of direct cleavage of single-stranded viral RNAs, inhibition of protein synthesis through the degradation of rRNA, induction of apoptosis, and induction of other antiviral genes. RNASEL mediated apoptosis is the result of a JNK-dependent stress- response pathway leading to cytochrome c release from mitochondria and caspase-dependent apoptosis. Therefore, activation of RNASEL could lead to elimination of virus infected cells under some circumstances. Might play a central role in the regulation of mRNA. turnover ["None"] ["None"] 1WDY L10381 RNASEL Chromosome:1 1q25 RNASEL HGNC:10050 true 2020-06-12T23:07:20Z 2020-07-28T02:29:20Z 0 0 0 4018 CDBP04017 Ribonuclease H1 O60930 RNH1_HUMAN true false Enzyme Homo_sapiens RNASEH1 286 32064.0 9.6 Involved in nucleic acid binding Endonuclease that specifically degrades the RNA of RNA- DNA hybrids ["None"] ["None"] AC108488 62420309 RNASEH1 Chromosome:2 2p25 RNASEH1 HGNC:18466 true 2020-06-12T23:07:20Z 2020-07-28T02:29:20Z 0 1 0 4019 CDBP04018 Solute carrier family 41 member 1 Q8IVJ1 S41A1_HUMAN false true Transporter Homo_sapiens SLC41A1 513 54900.3 4.95 Involved in cation transmembrane transporter activity Acts as a magnesium transporter that is responsive to magnesium balance ["None"] ["102-122", "185-205", "222-242", "257-277", "286-306", "316-336", "346-366", "411-431", "439-459", "484-504"] AJ514402 27527024 SLC41A1 Chromosome:1 1q32.1 SLC41A1 HGNC:19429 true 2020-06-12T23:07:20Z 2020-07-28T02:32:13Z 0 0 0 4020 CDBP04019 Solute carrier family 41 member 2 Q96JW4 S41A2_HUMAN false true Transporter Homo_sapiens SLC41A2 573 62472.6 6.04 Involved in cation transmembrane transporter activity Acts as a plasma-membrane magnesium transporter ["None"] ["163-183", "196-216", "246-266", "283-303", "314-334", "348-368", "377-397", "407-427", "470-490", "499-519", "544-564"] NM_032148.3 207444687 SLC41A2 Chromosome:1 12q23.3 SLC41A2 HGNC:31045 true 2020-06-12T23:07:20Z 2020-07-28T02:32:13Z 0 0 0 4021 CDBP04020 Serine/threonine-protein kinase SIK2 Q9H0K1 SIK2_HUMAN true false Enzyme Homo_sapiens SIK2 926 103914.4 5.91 Involved in protein kinase activity Phosphorylates 'Ser-794' of IRS1 in insulin-stimulated adipocytes, potentially modulating the efficiency of insulin signal transduction. Inhibits CREB activity by phosphorylating and repressing TORCs, the CREB-specific coactivators ["None"] ["None"] NM_015191.1 38569460 SIK2 Chromosome:1 11q23.1 SIK2 HGNC:21680 true 2020-06-12T23:07:20Z 2020-07-28T02:29:20Z 0 1 0 4022 CDBP04021 SNF-related serine/threonine-protein kinase Q9NRH2 SNRK_HUMAN true false Enzyme Homo_sapiens SNRK 765 84275.5 7.06 Involved in protein kinase activity May play a role in hematopoietic cell proliferation or differentiation. Potential mediator of neuronal apoptosis ["None"] ["None"] AF226044 9295327 SNRK Chromosome:3 3p22.1 SNRK HGNC:30598 true 2020-06-12T23:07:20Z 2020-07-28T02:29:20Z 0 0 0 4023 CDBP04022 Serine/threonine-protein kinase SRPK1 Q96SB4 SRPK1_HUMAN true false Enzyme Homo_sapiens SRPK1 655 74324.3 6.09 Involved in protein kinase activity Plays a central role in the regulatory network for splicing, controlling the intranuclear distribution of splicing factors in interphase cells and the reorganization of nuclear speckles during mitosis. Hyperphosphorylates RS domain-containing proteins such as SFRS1 and SFRS2 on serine residues during metaphase but at lower levels during interphase. Locks onto SFRS1 to form a stable complex and processively phosphorylates the RS domain. Appears to mediate HBV core protein phosphorylation which is a prerequisite for pregenomic RNA encapsidation into viral capsids ["None"] ["None"] NM_003137.4 47419936 SRPK1 Chromosome:6 6p21.31 SRPK1 HGNC:11305 true 2020-06-12T23:07:20Z 2020-07-28T02:29:20Z 0 0 0 4024 CDBP04023 Serine/threonine-protein kinase SRPK2 P78362 SRPK2_HUMAN true false Enzyme Homo_sapiens SRPK2 688 77526.0 4.61 Involved in protein kinase activity Phosphorylates RS domain-containing proteins, such as SFRS1 and SFRS2 on serine residues. Role in spliceosome assembly and in mediating the trafficking of splicing factors. Appears to mediate HBV core protein phosphorylation which is a prerequisite for pregenomic RNA encapsidation into viral capsids ["None"] ["None"] NM_182691.1 33188447 SRPK2 Chromosome:7 7q22-q31.1 SRPK2 HGNC:11306 true 2020-06-12T23:07:20Z 2020-07-28T02:29:20Z 0 0 0 4025 CDBP04024 Sulfiredoxin-1 Q9BYN0 SRXN1_HUMAN false false Enzyme Homo_sapiens SRXN1 137 14259.0 8.46 Involved in DNA binding Contributes to oxidative stress resistance by reducing cysteine-sulfinic acid formed under exposure to oxidants in the peroxiredoxins PRDX1, PRDX2, PRDX3 and PRDX4. Does not act on PRDX5 or PRDX6. May catalyze the reduction in a multi-step process by acting both as a specific phosphotransferase and a thioltransferase ["None"] ["None"] 1YZS AK312054 189065267 SRXN1 Chromosome:2 20p13 SRXN1 HGNC:16132 true 2020-06-12T23:07:20Z 2020-07-28T02:34:09Z 0 0 0 4026 CDBP04025 Serine/threonine-protein kinase 32A Q8WU08 ST32A_HUMAN true false Enzyme Homo_sapiens STK32A 396 46368.9 7.36 Involved in protein kinase activity ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] NM_001112724.1 163310763 STK32A Chromosome:5 5q32 STK32A HGNC:28317 true 2020-06-12T23:07:20Z 2020-07-28T02:29:20Z 0 0 0 4027 CDBP04026 Serine/threonine-protein kinase 32B Q9NY57 ST32B_HUMAN true false Enzyme Homo_sapiens STK32B 414 47882.6 7.79 Involved in protein kinase activity ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] AJ250839 7160989 STK32B Chromosome:4 4p16.2 STK32B HGNC:14217 true 2020-06-12T23:07:20Z 2020-07-28T02:29:20Z 0 0 0 4028 CDBP04027 Serine/threonine-protein kinase 32C Q86UX6 ST32C_HUMAN true false Enzyme Homo_sapiens STK32C 486 54993.9 6.58 Involved in protein kinase activity ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] AL512622 55960341 STK32C Chromosome:1 10q26.3 STK32C HGNC:21332 true 2020-06-12T23:07:20Z 2020-07-28T02:29:20Z 0 0 0 4029 CDBP04028 Serine/threonine-protein kinase 36 Q9NRP7 STK36_HUMAN true false Enzyme Homo_sapiens STK36 1315 143993.6 5.77 Involved in binding Serine/threonine protein kinase required for postnatal development, possibly by regulating the homeostasis of cerebral spinal fluid or ciliary function. Controls the activity of the transcriptional regulators GLI1, GLI2 and GLI3 by opposing the effect of SUFU and promoting their nuclear localization. GLI2 requires an additional function of STK36 to become transcriptionally active, but the enzyme does not need to possess an active kinase catalytic site for this to occur ["None"] ["None"] NM_015690.3 217330634 STK36 Chromosome:2 2q35 STK36 HGNC:17209 true 2020-06-12T23:07:20Z 2020-07-28T02:29:20Z 0 0 0 4030 CDBP04029 ATP-dependent RNA helicase SUPV3L1, mitochondrial Q8IYB8 SUV3_HUMAN true false Enzyme Homo_sapiens SUPV3L1 786 87990.315 7.989 Involved in nucleic acid binding Major helicase player in mitochondrial RNA metabolism. Component of the mitochondrial degradosome (mtEXO) complex, that degrades 3' overhang double-stranded RNA with a 3'-to-5' directionality in an ATP-dependent manner. ATPase and ATP-dependent multisubstrate helicase, able to unwind double stranded (ds) DNA and RNA, and RNA/DNA heteroduplexes in the 5'-to-3' direction. Plays a role in the RNA surveillance system in mitochondria; regulates the stability of mature mRNAs, the removal of aberrantly formed mRNAs and the rapid degradation of non coding processing intermediates. Also implicated in recombination and chromatin maintenance pathways. May protect cells from apoptosis. Associates with mitochondrial DNA. 3RC3;3RC8 AF042169 2801555 SUPV3L1 10 10q22.1 SUPV3L1 HGNC:11471 true hsa:6832 NP_003162.2:NM_003171.3 Broadly expressed. Magnesium or manganese Homodimer; in free form. Component of the mitochondrial degradosome (mtEXO) complex which is a heteropentamer containing 2 copies of SUPV3L1 and 3 copies of PNPT1. Interacts with HBXIP, WRN and BLM 2020-06-12T23:07:20Z 2020-07-28T02:29:20Z 0 0 0 4031 CDBP04030 Transcription initiation factor TFIID subunit 1 P21675 TAF1_HUMAN false false Transcription Factor Homo_sapiens TAF1 1872 212675.5 4.7 Involved in DNA binding Largest component and core scaffold of the TFIID basal transcription factor complex. Contains novel N- and C-terminal Ser/Thr kinase domains which can autophosphorylate or transphosphorylate other transcription factors. Phosphorylates TP53 on 'Thr-55' which leads to MDM2-mediated degradation of TP53. Phosphorylates GTF2A1 and GTF2F1 on Ser residues. Possesses DNA- binding activity. Essential for progression of the G1 phase of the cell cycle ["None"] ["None"] 1EQF NM_138923.2 20357588 TAF1 TAF1 HGNC:11535 true 2020-06-12T23:07:20Z 2020-07-28T02:32:07Z 0 0 1 4032 CDBP04031 Serine/threonine-protein kinase TAO2 Q9UL54 TAOK2_HUMAN true false Enzyme Homo_sapiens TAOK2 1235 138250.2 7.27 Involved in protein kinase activity Isoform 1, but not isoform 2, plays a role in apoptotic morphological changes, including cell contraction, membrane blebbing and apoptotic bodies formation. This function, which requires the activation of MAPK8/JNK and nuclear localization of C-terminally truncated isoform 1, may be linked to the mitochondrial CASP9-associated death pathway. Isoform 1, but not isoform 2, activates the JNK MAP kinase pathway through the specific activation of the upstream MKK3 and MKK6 kinases. Isoform 1 binds to microtubules and affects their organization and stability independently of its kinase activity. Prevents MAP3K7- mediated activation of IKKA, and thus NF-kappa-B activation, but not that of JNK. Phosphorylates itself, MBP, activated MAPK8 and tubulins. May play a role in the osmotic stress-MAPK8 pathway ["None"] ["965-985", "987-1007", "1012-1032", "1043-1063"] 1U5R NM_016151.2 45505130 TAOK2 Chromosome:1 16p11.2 TAOK2 HGNC:16835 true 2020-06-12T23:07:20Z 2020-07-28T02:29:21Z 0 0 0 4033 CDBP04032 Dual specificity testis-specific protein kinase 1 Q15569 TESK1_HUMAN true false Enzyme Homo_sapiens TESK1 626 67683.7 8.15 Involved in protein kinase activity Dual specificity protein kinase activity catalyzing autophosphorylation and phosphorylation of exogenous substrates on both serine/threonine and tyrosine residues. Probably plays a central role at and after the meiotic phase of spermatogenesis ["None"] ["None"] AL357874 55958923 TESK1 Chromosome:9 9p13 TESK1 HGNC:11731 true 2020-06-12T23:07:20Z 2020-07-28T02:29:21Z 0 1 0 4034 CDBP04033 3'-5' exoribonuclease 1 Q8IV48 ERI1_HUMAN true false Enzyme Homo_sapiens ERI1 349 40063.6 6.67 Involved in exonuclease activity RNA exonuclease that binds to the 3'-end of histone mRNAs and degrades them, suggesting that it plays an essential role in histone mRNA decay after replication. A 2' and 3'-hydroxyl groups at the last nucleotide of the histone 3'-end is required for efficient degradation of RNA substrates. Also able to degrade the 3'-overhangs of short interfering RNAs (siRNAs) in vitro, suggesting a possible role as regulator of RNA interference (RNAi). Requires for binding the 5'-ACCCA-3' sequence present in stem-loop structure. Able to bind other mRNAs. Required for 5.8S rRNA 3'-end processing. Also binds to 5.8s ribosomal RNA. Binds with high affinity to the stem-loop structure of replication- dependent histone pre-mRNAs ["None"] ["None"] 1W0H AY310909 ERI1 Chromosome:8 8p23.1 ERI1 HGNC:23994 true 2020-06-12T23:07:20Z 2020-07-28T02:29:21Z 0 0 0 4035 CDBP04034 Titin Q8WZ42 TITIN_HUMAN false false Enzyme Homo_sapiens TTN 34350 3816158.8 6.25 Involved in nucleic acid binding Key component in the assembly and functioning of vertebrate striated muscles. By providing connections at the level of individual microfilaments, it contributes to the fine balance of forces between the two halves of the sarcomere. The size and extensibility of the cross-links are the main determinants of sarcomere extensibility properties of muscle. In non-muscle cells, seems to play a role in chromosome condensation and chromosome segregation during mitosis. Might link the lamina network to chromatin or nuclear actin, or both during interphase ["None"] ["None"] 1TKI AJ277892 17066105 TTN Chromosome:2 2q31 TTN HGNC:12403 true 2020-06-12T23:07:20Z 2020-07-28T02:34:09Z 0 0 0 4036 CDBP04035 Serine/threonine-protein kinase TNNI3K Q59H18 TNI3K_HUMAN true false Enzyme Homo_sapiens TNNI3K 835 92849.7 6.74 Involved in protein kinase activity May play a role in cardiac physiology ["None"] ["None"] AF116826 4768829 TNNI3K Chromosome:1 1p31.1 TNNI3K HGNC:19661 true 2020-06-12T23:07:20Z 2020-07-28T02:29:21Z 0 0 0 4037 CDBP04036 Three prime repair exonuclease 1 Q9NSU2 TREX1_HUMAN true false Enzyme Homo_sapiens TREX1 369 38922.5 8.49 Involved in nucleic acid binding Exonuclease with a preference for double stranded DNA with mismatched 3' termini. May play a role in DNA repair ["None"] ["None"] NM_016381.3 7705353 TREX1 Chromosome:3 3p21.31 TREX1 HGNC:12269 true 2020-06-12T23:07:20Z 2020-07-28T02:29:21Z 0 0 0 4038 CDBP04037 Three prime repair exonuclease 2 Q9BQ50 TREX2_HUMAN true false Enzyme Homo_sapiens TREX2 279 30620.4 6.83 Involved in exonuclease activity Exonuclease with a preference for double stranded DNA with mismatched 3' termini. May play a role in DNA repair ["None"] ["None"] 1Y97 AF319571 12751319 TREX2 TREX2 HGNC:12270 true 2020-06-12T23:07:20Z 2020-07-28T02:29:21Z 0 0 0 4039 CDBP04038 CCA tRNA nucleotidyltransferase 1, mitochondrial Q96Q11 TRNT1_HUMAN true false Enzyme Homo_sapiens TRNT1 434 50143.185 8.102 Involved in RNA binding Isoform 1: Adds and repairs the conserved 3'-CCA sequence necessary for the attachment of amino acids to the 3' terminus of tRNA molecules, using CTP and ATP as substrates. Isoform 2: Adds 2 C residues (CC-) to the 3' terminus of tRNA molecules instead of a complete CCA end as isoform 1 does (in vitro). 1OU5 AB063105 16416451 TRNT1 3 3p25.1 TRNT1 HGNC:17341 true hsa:51095 NP_886552.2:NM_182916.2 Magnesium Monomer, and homodimer; disulfide-linked 2020-06-12T23:07:20Z 2020-07-28T02:29:21Z 0 0 0 4040 CDBP04039 Testis-specific serine/threonine-protein kinase 6 Q9BXA6 TSSK6_HUMAN true false Enzyme Homo_sapiens TSSK6 273 30330.8 9.43 Involved in protein kinase activity Required for sperm production and function. Plays a role in DNA condensation during postmeiotic chromatin remodeling ["None"] ["None"] AF329483 TSSK6 Chromosome:1 19p13.11 TSSK6 HGNC:30410 true 2020-06-12T23:07:20Z 2020-07-28T02:29:21Z 0 1 0 4041 CDBP04040 Tubulin--tyrosine ligase Q8NG68 TTL_HUMAN true false Enzyme Homo_sapiens TTL 377 43211.94 6.744 Involved in catalytic activity Catalyzes the post-translational addition of a tyrosine to the C-terminal end of detyrosinated alpha-tubulin (By similarity). AB071393 40363527 TTL 2 2q13 TTL HGNC:21586 true hsa:150465 NP_714923.1:NM_153712.4 Magnesium;Potassium Monomer 2020-06-12T23:07:20Z 2020-07-28T02:29:21Z 0 0 0 4042 CDBP04041 Ubiquitin-like domain-containing CTD phosphatase 1 Q8WVY7 UBCP1_HUMAN true false Enzyme Homo_sapiens UBLCP1 318 36804.355 6.461 Involved in phosphoprotein phosphatase activity Dephosphorylates 26S nuclear proteasomes, thereby decreasing their proteolytic activity. The dephosphorylation may prevent assembly of the core and regulatory particles (CP and RP) into mature 26S proteasome. 2KX3;2LGD AK057996 16553992 UBLCP1 5 5q33.3 UBLCP1 HGNC:28110 true hsa:134510 NP_659486.2:NM_145049.3 Broadly expressed, with highest levels in placenta, lung, testis and ovary. Up-regulated in tumor tissues. Magnesium 2020-06-12T23:07:20Z 2020-07-28T02:29:21Z 0 0 0 4043 CDBP04042 Serine/threonine-protein kinase WNK3 Q9BYP7 WNK3_HUMAN true false Enzyme Homo_sapiens WNK3 1743 191787.4 5.39 Involved in protein kinase activity ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] NM_001002838.3 50845416 WNK3 WNK3 HGNC:14543 true 2020-06-12T23:07:21Z 2020-07-28T02:29:22Z 0 0 0 4044 CDBP04043 Werner syndrome ATP-dependent helicase Q14191 WRN_HUMAN true false Enzyme Homo_sapiens WRN 1432 162459.405 6.345 Involved in nucleic acid binding Multifunctional enzyme that has both magnesium and ATP-dependent DNA-helicase activity and 3'->5' exonuclease activity towards double-stranded DNA with a 5'-overhang. Has no nuclease activity towards single-stranded DNA or blunt-ended double-stranded DNA. Binds preferentially to DNA substrates containing alternate secondary structures, such as replication forks and Holliday junctions. May play an important role in the dissociation of joint DNA molecules that can arise as products of homologous recombination, at stalled replication forks or during DNA repair. Alleviates stalling of DNA polymerases at the site of DNA lesions. Important for genomic integrity. Plays a role in the formation of DNA replication focal centers; stably associates with foci elements generating binding sites for RP-A (By similarity). 2AXL;2DGZ;2E1E;2E1F;2FBT;2FBV;2FBX;2FBY;2FC0;3AAF AF091214 3719421 WRN 8 8p12 WRN HGNC:12791 true hsa:7486 NP_000544.2:NM_000553.4 magnesium ions . Has high activity with manganese and zinc ions (in vitro) Monomer, and homooligomer. May exist as homodimer, homotrimer, homotetramer and/or homohexamer. Homotetramer, or homohexamer, when bound to DNA. Interacts via its N-terminal domain with WRNIP1 . Interacts with EXO1, PCNA and SUPV3L1 2020-06-12T23:07:21Z 2020-07-28T02:29:22Z 0 0 0 4045 CDBP04044 DNA repair endonuclease XPF Q92889 XPF_HUMAN true false Enzyme Homo_sapiens ERCC4 916 104484.9 6.92 Involved in DNA binding Structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair. Involved in homologous recombination that assists in removing interstrand cross-link ["None"] ["None"] AF491814 19550957 ERCC4 Chromosome:1 16p13.12 ERCC4 HGNC:3436 true 2020-06-12T23:07:21Z 2020-07-28T02:29:22Z 0 0 0 4046 CDBP04045 Beta-1,3-galactosyltransferase 1 Q9Y5Z6 B3GT1_HUMAN true false Enzyme Homo_sapiens B3GALT1 326 37992.7 9.65 Involved in galactosyltransferase activity Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-N- acetylglucosamine (beta-GlcNAc) residue. Involved in the biosynthesis of the carbohydrate moieties of glycolipids and glycoproteins. Inactive towards substrates with terminal alpha-N- acetylglucosamine (alpha-GlcNAc) or alpha-N-acetylgalactosamine (alpha-GalNAc) residues ["None"] ["7-26"] AB041407 7593005 B3GALT1 Chromosome:2 2q24.3 B3GALT1 HGNC:916 true 2020-06-12T23:07:21Z 2020-07-28T02:29:22Z 0 0 0 4047 CDBP04046 PP2C-like domain-containing protein C3orf48 A8MPX8 CC048_HUMAN false false Enzyme Homo_sapiens C3orf48 630 71642.3 8.95 Involved in catalytic activity ["None"] ["None"] C3orf48 Chromosome:3 3p24.3 C3orf48 HGNC:28406 true 2020-06-12T23:07:21Z 2020-07-28T02:34:09Z 0 0 0 4048 CDBP04047 Dermcidin P81605 DCD_HUMAN false false Enzyme Homo_sapiens DCD 110 11283.7 6.52 Involved in protein binding Survival-promoting peptide promotes survival of neurons and displays phosphatase activity. It may bind IgG ["1-19"] ["None"] AF144011 16416649 DCD Chromosome:1 12q13.1 DCD HGNC:14669 true 2020-06-12T23:07:21Z 2020-07-28T02:34:09Z 0 0 0 4049 CDBP04048 Dual specificity protein phosphatase 18 Q8NEJ0 DUS18_HUMAN true false Enzyme Homo_sapiens DUSP18 188 21066.315 7.468 Involved in phosphatase activity Can dephosphorylate single and diphosphorylated synthetic MAPK peptides, with preference for the phosphotyrosine and diphosphorylated forms over phosphothreonine. In vitro, dephosphorylates p-nitrophenyl phosphate (pNPP). 2ESB AF461689 26050104 DUSP18 22 22q12.2 DUSP18 HGNC:18484 true hsa:150290 NP_689724.3:NM_152511.3 Widely expressed with highest levels in liver, brain, ovary and testis. 2020-06-12T23:07:21Z 2020-07-28T02:29:22Z 0 0 0 4050 CDBP04049 Interferon-induced, double-stranded RNA-activated protein kinase P19525 E2AK2_HUMAN true false Enzyme Homo_sapiens EIF2AK2 551 62093.7 8.63 Involved in double-stranded RNA binding Following activation by double-stranded RNA in the presence of ATP, the kinase becomes autophosphorylated and can catalyze the phosphorylation of the translation initiation factor EIF2S1, which leads to an inhibition of the initiation of protein synthesis. Double-stranded RNA is generated during the course of a viral infection ["None"] ["None"] 1QU6 M35663 EIF2AK2 Chromosome:2 2p22-p21 EIF2AK2 HGNC:9437 true 2020-06-12T23:07:21Z 2020-07-28T02:29:22Z 0 0 0 4051 CDBP04050 Telomerase-binding protein EST1A Q86US8 EST1A_HUMAN true false Enzyme Homo_sapiens SMG6 1419 160460.3 7.03 Involved in binding Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. May have a general role in telomere regulation. Promotes in vitro the ability of TERT to elongate telomeres. Overexpression induces telomere uncapping, chromosomal end-to-end fusions (telomeric DNA persists at the fusion points) and did not perturb TRF2 telomeric localization. Dephosphorylates RENT1. Plays a role in nonsense-mediated mRNA decay. May function as endonuclease. Degrades single-stranded RNA (ssRNA), but not ssDNA or dsRNA ["None"] ["None"] NM_017575.4 115511020 SMG6 Chromosome:1 17p13.3 SMG6 HGNC:17809 true 2020-06-12T23:07:21Z 2020-07-28T02:29:22Z 0 0 0 4052 CDBP04051 Galactose-3-O-sulfotransferase 4 Q96RP7 G3ST4_HUMAN true false Enzyme Homo_sapiens GAL3ST4 486 54165.6 10.71 Involved in galactosylceramide sulfotransferase activity Catalyzes the transfer of sulfate to beta-1,3-linked galactose residues in O-linked glycoproteins. Good substrates include asialofetuin, Gal-beta-1,3-GalNAc and Gal-beta-1,3 (GlcNAc-beta-1,6)GalNAc ["None"] ["19-39"] AF289575 18027354 GAL3ST4 Chromosome:7 7q22.1 GAL3ST4 HGNC:24145 true 2020-06-12T23:07:21Z 2020-07-28T02:29:22Z 0 0 0 4053 CDBP04052 Interferon-stimulated gene 20 kDa protein Q96AZ6 ISG20_HUMAN false false Enzyme Homo_sapiens ISG20 181 20363.3 9.19 Involved in exonuclease activity Exonuclease with specificity for single-stranded RNA and, to a lesser extent for DNA. Degrades RNA at a rate that is approximately 35-fold higher than its rate for single-stranded DNA. Involved in the antiviral function of IFN against RNA viruses ["None"] ["None"] 1WLJ X89773 6759541 ISG20 Chromosome:1 15q26 ISG20 HGNC:6130 true 2020-06-12T23:07:21Z 2020-07-28T02:34:10Z 0 0 0 4054 CDBP04053 Carnosine synthase 1 A5YM72 CRNS1_HUMAN true false Enzyme Homo_sapiens CARNS1 827 101318.725 5.69 Involved in catalytic activity Catalyzes the synthesis of carnosine and homocarnosine. Carnosine is synthesized more efficiently than homocarnosine. NM_020811.1 148839342 CARNS1 11 11q13.2 CARNS1 HGNC:29268 true hsa:57571 NP_001159694.1:NM_001166222.1;NP_065862.1:NM_020811.1 manganese ions Homotetramer 2020-06-12T23:07:21Z 2020-07-28T02:29:22Z 0 1 0 4055 CDBP04054 Double-strand break repair protein MRE11A P49959 MRE11_HUMAN false false Metal Binding Homo_sapiens MRE11A 708 80592.6 5.69 Involved in exonuclease activity Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The complex possesses single-strand endonuclease activity and double-strand- specific 3'-5' exonuclease activity, which are provided by MRE11A. RAD50 may be required to bind DNA ends and hold them in close proximity. This could facilitate searches for short or long regions of sequence homology in the recombining DNA templates, and may also stimulate the activity of DNA ligases and/or restrict the nuclease activity of MRE11A to prevent nucleolytic degradation past a given point. The complex may also be required for DNA damage signaling via activation of the ATM kinase. In telomeres the MRN complex may modulate t-loop formation ["None"] ["None"] AF022778 2827086 MRE11A Chromosome:1 11q21 MRE11A HGNC:7230 true 2020-06-12T23:07:21Z 2020-07-28T02:32:05Z 0 1 0 4056 CDBP04055 GDP-fucose protein O-fucosyltransferase 1 Q9H488 OFUT1_HUMAN true false Enzyme Homo_sapiens POFUT1 388 43955.4 8.69 Involved in peptide-O-fucosyltransferase activity Catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue in EGF domains. Plays a crucial role in Notch signaling ["1-26"] ["None"] AF375884 15825114 POFUT1 Chromosome:2 20q11 POFUT1 HGNC:14988 true 2020-06-12T23:07:21Z 2020-07-28T02:29:22Z 0 0 0 4057 CDBP04056 Oligoribonuclease, mitochondrial Q9Y3B8 ORN_HUMAN true false Enzyme Homo_sapiens REXO2 237 26832.5 6.88 Involved in exonuclease activity 3'-to-5' exoribonuclease specific for small oligoribonucleotides. Active on small (primarily </=5 nucleotides in length) single-stranded RNA and DNA oligomers. May have a role for cellular nucleotide recycling ["None"] ["None"] NM_015523.3 224496106 REXO2 Chromosome:1 11q23.2 REXO2 HGNC:17851 true 2020-06-12T23:07:21Z 2020-07-28T02:29:22Z 0 0 0 4058 CDBP04057 Probable aminopeptidase NPEPL1 Q8NDH3 PEPL1_HUMAN true false Enzyme Homo_sapiens NPEPL1 523 55860.3 6.88 Involved in aminopeptidase activity Probably catalyzes the removal of unsubstituted N- terminal amino acids from various peptides ["None"] ["None"] NM_024663.3 47155554 NPEPL1 Chromosome:2 20q13.32 NPEPL1 HGNC:16244 true 2020-06-12T23:07:21Z 2020-07-28T02:29:22Z 0 0 0 4059 CDBP04058 PH domain leucine-rich repeat-containing protein phosphatase 2 Q6ZVD8 PHLP2_HUMAN true false Enzyme Homo_sapiens PHLPP2 1323 146749.61 5.707 Involved in protein binding Protein phosphatase that mediates dephosphorylation of 'Ser-473' of AKT1, 'Ser-660' of PRKCB isoform beta-II and 'Ser-657' of PRKCA. AKT1 regulates the balance between cell survival and apoptosis through a cascade that primarily alters the function of transcription factors that regulate pro- and antiapoptotic genes. Dephosphorylation of 'Ser-473' of AKT1 triggers apoptosis and decreases cell proliferation. Also controls the phosphorylation of AKT3. Dephosphorylation of PRKCA and PRKCB leads to their destabilization and degradation. Inhibits cancer cell proliferation and may act as a tumor suppressor. NM_015020.2 65301141 PHLPP2 16 16q22.2 PHLPP2 HGNC:29149 true hsa:23035 NP_055835.2:NM_015020.2 In colorectal cancer tissue, expression is highest in the surface epithelium of normal colonic mucosa adjacent to the cancer tissue but is largely excluded from the crypt bases. Expression is lost or significantly decreased in 80% of tested tumors (at protein level). manganese ions Interacts with AKT1, AKT3 and PRKCB isoform beta-II 2020-06-12T23:07:21Z 2020-07-28T02:29:22Z 0 1 0 4060 CDBP04059 PH domain leucine-rich repeat-containing protein phosphatase 1 O60346 PHLP1_HUMAN true false Enzyme Homo_sapiens PHLPP1 1717 184670.48 6.281 Involved in protein binding Protein phosphatase that mediates dephosphorylation of 'Ser-473' of AKT1, 'Ser-660' of PRKCB isoform beta-II and 'Ser-657' of PRKCA. AKT1 regulates the balance between cell survival and apoptosis through a cascade that primarily alters the function of transcription factors that regulate pro- and antiapoptotic genes. Dephosphorylation of 'Ser-473' of AKT1 triggers apoptosis and suppression of tumor growth. Controls the phosphorylation of AKT2 and AKT3 more efficiently than that of AKT1. Dephosphorylation of PRKCA and PRKCB leads to their destabilization and degradation. Inhibits cancer cell proliferation and may act as a tumor suppressor. May act as a negative regulator of K-Ras signaling in membrane rafts. NM_194449.2 291219891 PHLPP1 18 18q21.33 PHLPP1 HGNC:20610 true hsa:23239 NP_919431.2:NM_194449.3 In colorectal cancer tissue, expression is highest in the surface epithelium of normal colonic mucosa adjacent to the cancer tissue but is largely excluded from the crypt bases. Expression is lost or significantly decreased in 78% of tested tumors (at protein level). Ubiquitously expressed in non-cancerous tissues. manganese ions Interacts with the nucleotide free form of K-Ras (KRAS) via its LRR repeats . Interacts with AKT2, AKT3 and PRKCB isoform beta-II 2020-06-12T23:07:21Z 2020-07-28T02:29:22Z 1 1 0 4061 CDBP04060 Phosphoinositide 3-kinase regulatory subunit 4 Q99570 PI3R4_HUMAN true false Enzyme Homo_sapiens PIK3R4 1358 153102.1 7.17 Involved in binding Regulatory subunit of the PI3K complex. May regulate membrane trafficking late in the endocytic pathway ["None"] ["None"] BC110318 83759166 PIK3R4 Chromosome:3 3q22.1 PIK3R4 HGNC:8982 true 2020-06-12T23:07:21Z 2020-07-28T02:29:22Z 0 0 0 4062 CDBP04061 Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 Q8WZA1 PMGT1_HUMAN true false Enzyme Homo_sapiens POMGNT1 660 75219.255 6.837 Involved in alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity Participates in O-mannosyl glycosylation. May be responsible for the synthesis of the GlcNAc(beta1-2)Man(alpha1-)O-Ser/Thr moiety on alpha-dystroglycan and other O-mannosylated proteins. Is specific for alpha linked terminal mannose and does not have MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity. AB057356 16904640 POMGNT1 1 1p34.1 POMGNT1 HGNC:19139 true hsa:55624 NP_060209.3:NM_017739.3 Constitutively expressed. An additional weaker band is also detected in spinal cord, lymph node, and trachea. Expressed especially in astrocytes. Also expressed in immature and mature neurons. Manganese 2020-06-12T23:07:21Z 2020-07-28T02:29:22Z 0 0 0 4063 CDBP04062 N-acetylaspartyl-glutamate synthetase A Q8IXN7 RIMKA_HUMAN true false Enzyme Homo_sapiens RIMKLA 391 42863.8 6.675 Involved in catalytic activity Catalyzes the synthesis of N-acetylaspartyl-glutamate (NAAG). AL513331 187761273 RIMKLA 1 1p34.2 RIMKLA HGNC:28725 true hsa:284716 NP_775913.2:NM_173642.3 manganese ions 2020-06-12T23:07:21Z 2020-07-28T02:29:23Z 0 1 0 4064 CDBP04063 Beta-citryl-glutamate synthase B Q9ULI2 RIMKB_HUMAN true false Enzyme Homo_sapiens RIMKLB 386 42463.575 5.995 Involved in catalytic activity Catalyzes the synthesis of beta-citryl-glutamate and N-acetyl-aspartyl-glutamate. Beta-citryl-glutamate is synthesized more efficiently than N-acetyl-aspartyl-glutamate (By similarity). NM_020734.2 134254462 RIMKLB 12 12p13.31 RIMKLB HGNC:29228 true hsa:57494 NP_065785.2:NM_020734.2 manganese ions 2020-06-12T23:07:21Z 2020-07-28T02:29:23Z 0 1 0 4065 CDBP04064 Serine/threonine-protein kinase SMG1 Q96Q15 SMG1_HUMAN true false Enzyme Homo_sapiens SMG1 3657 410257.6 6.43 Involved in binding Serine/threonine protein kinase involved in both mRNA surveillance and genotoxic stress response pathways. Recognizes the substrate consensus sequence [ST]-Q. Plays a central role in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by phosphorylating UPF1/RENT1. Acts as part of the SMG1C complex, a mRNA surveillance complex that recognizes and degrades mRNAs containing premature translation termination codons (PTCs). The complex probably acts by associating with ribosomes during tranlation termination on mRNPs. If an exon junction complex (EJC) is located 50-55 or more nucleotides downstream from the termination codon, it phosphorylates UPF1/RENT1, triggering nonsense-mediated decay (NMD). Also acts as a genotoxic stress- activated protein kinase that displays some functional overlap with ATM. Can phosphorylate TP53/p53 and is required for optimal TP53/p53 activation after cellular exposure to genotoxic stress. Its depletion leads to spontaneous DNA damage and increased sensitivity to ionizing radiation (IR). May activate PRKCI but not PRKCZ ["None"] ["None"] AB061371 16506130 SMG1 Chromosome:1 16p12.3 SMG1 HGNC:30045 true 2020-06-12T23:07:21Z 2020-07-28T02:29:23Z 0 0 0 4066 CDBP04065 Xaa-Pro aminopeptidase 1 Q9NQW7 XPP1_HUMAN true false Enzyme Homo_sapiens XPNPEP1 623 69917.2 5.41 Involved in hydrolase activity Contributes to the degradation of bradykinin. Catalyzes the removal of a penultimate prolyl residue from the N-termini of peptides, such as Arg-Pro-Pro ["None"] ["None"] AF195530 9739017 XPNPEP1 Chromosome:1 10q25.3 XPNPEP1 HGNC:12822 true 2020-06-12T23:07:21Z 2020-07-28T02:29:23Z 0 0 0 4067 CDBP04066 Xaa-Pro aminopeptidase 2 O43895 XPP2_HUMAN true false Enzyme Homo_sapiens XPNPEP2 674 75624.2 5.91 Involved in hydrolase activity A metalloprotease that may play a role in the inflammatory process and other reactions produced in response to injury or infection. May also play a role in the metabolism of the vasodilator bradykinin ["1-21"] ["None"] AF195953 11066157 XPNPEP2 XPNPEP2 HGNC:12823 true 2020-06-12T23:07:21Z 2020-07-28T02:29:23Z 0 0 0 4068 CDBP04067 Probable Xaa-Pro aminopeptidase 3 Q9NQH7 XPP3_HUMAN true false Enzyme Homo_sapiens XPNPEP3 507 57033.1 6.83 Involved in cellular process Release of any N-terminal amino acid, including proline, that is linked to proline, even from a dipeptide or tripeptide ["None"] ["None"] CR457396 48146909 XPNPEP3 Chromosome:2 22q13.2 XPNPEP3 HGNC:28052 true 2020-06-12T23:07:21Z 2020-07-28T02:29:23Z 0 1 0 4069 CDBP04068 Aldehyde dehydrogenase family 8 member A1 Q9H2A2 AL8A1_HUMAN true false Enzyme Homo_sapiens ALDH8A1 487 53400.9 7.16 Involved in oxidoreductase activity Converts 9-cis-retinal to 9-cis-retinoic acid. Has lower activity towards 13-cis-retinal. Has much lower activity towards all-trans-retinal. Has highest activity with benzaldehyde and decanal (in vitro). Has a preference for NAD, but shows considerable activity with NADP (in vitro) ["None"] ["None"] AF303134 ALDH8A1 Chromosome:6 6q23.2 ALDH8A1 HGNC:15471 true 2020-06-12T23:07:21Z 2020-07-28T02:29:23Z 0 0 0 4070 CDBP04069 Putative L-aspartate dehydrogenase A6ND91 ASPD_HUMAN true false Enzyme Homo_sapiens ASPDH 283 18655.255 8.147 Involved in oxidoreductase activity Specifically catalyzes the NAD or NADP-dependent dehydrogenation of L-aspartate to iminoaspartate (By similarity). NM_001114598.1 167736378 ASPDH 19 19q13.33 ASPDH HGNC:33856 true hsa:554235 NP_001019827.2:NM_001024656.2;NP_001108070.1:NM_001114598.1 2020-06-12T23:07:21Z 2020-07-28T02:29:23Z 0 0 0 4071 CDBP04070 Estradiol 17-beta-dehydrogenase 12 Q53GQ0 DHB12_HUMAN true false Enzyme Homo_sapiens HSD17B12 312 34323.875 9.323 Involved in oxidoreductase activity Catalyzes the transformation of estrone (E1) into estradiol (E2), suggesting a central role in estrogen formation. Its strong expression in ovary and mammary gland suggest that it may constitute the major enzyme responsible for the conversion of E1 to E2 in women. Also has 3-ketoacyl-CoA reductase activity, reducing both long chain 3-ketoacyl-CoAs and long chain fatty acyl-CoAs, suggesting a role in long fatty acid elongation. AF078850 5531815 HSD17B12 11 11p11.2 HSD17B12 HGNC:18646 true hsa:51144 NP_057226.1:NM_016142.2 Expressed in most tissues tested. Highly expressed in the ovary and mammary. Expressed in platelets. Interacts with ELOVL1 and LASS2 2020-06-12T23:07:21Z 2020-07-28T02:29:23Z 0 0 0 4072 CDBP04071 17-beta-hydroxysteroid dehydrogenase 14 Q9BPX1 DHB14_HUMAN true false Enzyme Homo_sapiens HSD17B14 270 28317.2 5.86 Involved in oxidoreductase activity Has NAD-dependent 17-beta-hydroxysteroid dehydrogenase activity. Converts oestradiol to oestrone. The physiological substrate is not known. Acts on oestradiol and 5-androstene-3- beta,17-beta-diol (in vitro) ["None"] ["None"] 1YDE AF126781 6318546 HSD17B14 Chromosome:1 19q13.33 HSD17B14 HGNC:23238 true 2020-06-12T23:07:21Z 2020-07-28T02:29:23Z 0 0 0 4073 CDBP04072 Forkhead box protein O4 P98177 FOXO4_HUMAN false false Transcription Factor Homo_sapiens FOXO4 505 53683.8 4.89 Involved in sequence-specific DNA binding transcription factor activity Transcription factor involved in the regulation of the insulin signaling pathway. Binds to insulin-response elements (IREs) and can activate transcription of IGFBP1. Down-regulates expression of HIF1A and suppresses hypoxia-induced transcriptional activation of HIF1A-modulated genes. Also involved in negative regulation of the cell cycle ["None"] ["None"] 1E17 NM_005938.3 103472003 FOXO4 FOXO4 HGNC:7139 true 2020-06-12T23:07:21Z 2020-07-28T02:32:07Z 0 0 1 4074 CDBP04073 Nicotinamide phosphoribosyltransferase P43490 NAMPT_HUMAN true false Enzyme Homo_sapiens NAMPT 491 55520.8 7.158 Involved in nicotinate phosphoribosyltransferase activity Catalyzes the condensation of nicotinamide with 5-phosphoribosyl-1-pyrophosphate to yield nicotinamide mononucleotide, an intermediate in the biosynthesis of NAD. It is the rate limiting component in the mammalian NAD biosynthesis pathway (By similarity). 2E5B;2E5C;2E5D;2GVG;2GVJ;3DGR;3DHD;3DHF;3DKJ;3DKL U02020 NAMPT 7 7q22.3 NAMPT HGNC:30092 true hsa:10135 NP_005737.1:NM_005746.2 Expressed in large amounts in bone marrow, liver tissue, and muscle. Also present in heart, placenta, lung, and kidney tissues. Homodimer 2020-06-12T23:07:21Z 2020-07-28T02:29:23Z 0 0 1 4075 CDBP04074 Nicotinamide riboside kinase 2 Q9NPI5 NRK2_HUMAN true false Enzyme Homo_sapiens NMRK2 230 26045.335 6.131 Nucleotide transport and metabolism Catalyzes the phosphorylation of nicotinamide riboside (NR) and nicotinic acid riboside (NaR) to form nicotinamide mononucleotide (NMN) and nicotinic acid mononucleotide (NaMN). Reduces laminin matrix deposition and cell adhesion to laminin, but not to fibronectin. Involved in the regulation of PXN at the protein level and of PXN tyrosine phosphorylation. May play a role in the regulation of terminal myogenesis. NM_170678.2 24762248 ITGB1BP3 19 19p13.3 ITGB1BP3 HGNC:17871 true hsa:27231 NP_733778.1:NM_170678.2 Predominantly expressed in skeletal muscle and, at a much lower level, in the heart (at protein level). No expression in brain, kidney, liver, lung, pancreas nor placenta. Monomer . Interacts with ITGB1 alone or when associated with alpha-7, but not with alpha-5 2020-06-12T23:07:21Z 2020-07-28T02:29:23Z 0 1 0 4076 CDBP04075 Nucleoredoxin Q6DKJ4 NXN_HUMAN false false Enzyme Homo_sapiens NXN 435 48391.6 4.6 Involved in antioxidant activity Functions as a redox-dependent negative regulator of the Wnt signaling pathway. May function as a transcriptional regulator. May regulate phosphatase 2A ["None"] ["None"] NM_022463.3 33149331 NXN Chromosome:1 17p13.3 NXN HGNC:18008 true 2020-06-12T23:07:21Z 2020-07-28T02:34:10Z 0 0 0 4077 CDBP04076 Poly [ADP-ribose] polymerase 10 Q53GL7 PAR10_HUMAN true false Enzyme Homo_sapiens PARP10 1025 109997.35 4.968 Involved in nucleotide binding May play a role in cell proliferation. May be required for the maintenance of cell cycle progression. 2DHX;3HKV AK222914 62897387 PARP10 8 8q24.3 PARP10 HGNC:25895 true hsa:84875 NP_116178.2:NM_032789.3 Highly expressed in spleen and thymus. Intermediate levels in liver, kidney, pancreas, prostate, testis, ovary, intestine, and leukocytes. Low expression in heart, brain, placenta, lung, skeletal muscle, and colon. Interacts with MYC 2020-06-12T23:07:21Z 2020-07-28T02:29:23Z 0 0 0 4078 CDBP04077 Poly [ADP-ribose] polymerase 11 Q9NR21 PAR11_HUMAN true false Enzyme Homo_sapiens PARP11 331 39596.545 7.295 Involved in NAD+ ADP-ribosyltransferase activity 2DK6 AF263540 9652076 PARP11 12 12p13.3 PARP11 HGNC:1186 true hsa:57097 NP_065100.2:NM_020367.4 2020-06-12T23:07:21Z 2020-07-28T02:29:23Z 0 0 0 4079 CDBP04078 Poly [ADP-ribose] polymerase 12 Q9H0J9 PAR12_HUMAN true false Enzyme Homo_sapiens PARP12 701 79063.08 8.521 Involved in NAD+ ADP-ribosyltransferase activity 2PQF NM_022750.2 12232413 PARP12 7 7q34 PARP12 HGNC:21919 true hsa:64761 NP_073587.1:NM_022750.2 2020-06-12T23:07:21Z 2020-07-28T02:29:23Z 0 1 0 4080 CDBP04079 Poly [ADP-ribose] polymerase 14 Q460N5 PAR14_HUMAN true false Enzyme Homo_sapiens PARP14 1720 202798.68 7.181 Involved in NAD+ ADP-ribosyltransferase activity Enhances STAT6-dependent transcription (By similarity). Has ADP-ribosyltransferase activity. 3GOY;3Q6Z;3Q71;3SE2;3SMI;3SMJ;4ABK;4ABL;4F1L;4F1Q 154813199 PARP14 3 3q21.1 PARP14 HGNC:29232 true hsa:54625 NP_060024.2:NM_017554.2 Interacts with STAT6 2020-06-12T23:07:21Z 2020-07-28T02:29:23Z 0 0 1 4081 CDBP04080 Poly [ADP-ribose] polymerase 15 Q460N3 PAR15_HUMAN true false Enzyme Homo_sapiens PARP15 656 74575.465 8.815 Involved in NAD+ ADP-ribosyltransferase activity Transcriptional repressor. Has ADP-ribosyltransferase activity. 3BLJ;3GEY;3KH6;3V2B;4F0E DQ063586 PARP15 3 3q21.1 PARP15 HGNC:26876 true hsa:165631 NP_001106995.1:NM_001113523.1;NP_689828.1:NM_152615.1 2020-06-12T23:07:21Z 2020-07-28T02:29:23Z 0 0 1 4082 CDBP04081 Mono [ADP-ribose] polymerase PARP16 Q8N5Y8 PAR16_HUMAN true false Enzyme Homo_sapiens PARP16 322 36469.41 9.049 Involved in NAD+ ADP-ribosyltransferase activity Mono-ADP-ribosyltransferase targeting the karyopherin KPNB1. Plays a role in unfolded protein response (UPR), by ADP-ribosylating and activating EIF2AK3 and ERN1, two important UPR effectors. 4F0D BC031074 21411003 PARP16 15 15q22.31 PARP16 HGNC:26040 true hsa:54956 NP_060321.3:NM_017851.4 Interacts with KPNB1 2020-06-12T23:07:21Z 2020-07-28T02:29:23Z 0 0 0 4083 CDBP04082 Poly [ADP-ribose] polymerase 6 Q2NL67 PARP6_HUMAN true false Enzyme Homo_sapiens PARP6 630 71114.175 8.332 Involved in NAD+ ADP-ribosyltransferase activity NM_020214.2 94536838 PARP6 15 15q23 PARP6 HGNC:26921 true hsa:56965 NP_064599.2:NM_020214.2 2020-06-12T23:07:21Z 2020-07-28T02:29:23Z 0 0 0 4084 CDBP04083 Poly [ADP-ribose] polymerase 8 Q8N3A8 PARP8_HUMAN true false Enzyme Homo_sapiens PARP8 854 95870.105 8.279 Involved in NAD+ ADP-ribosyltransferase activity NM_001178055.1 295844829 PARP8 5 5q11.1 PARP8 HGNC:26124 true hsa:79668 NP_001171526.1:NM_001178055.1;NP_001171527.1:NM_001178056.1;NP_078891.2:NM_024615.3 2020-06-12T23:07:21Z 2020-07-28T02:29:24Z 0 0 0 4085 CDBP04084 Poly [ADP-ribose] polymerase 9 Q8IXQ6 PARP9_HUMAN true false Enzyme Homo_sapiens PARP9 854 96342.655 7.916 Involved in NAD+ ADP-ribosyltransferase activity Involved in inducing the expression of IFN-gamma-responsive genes. AF307338 12751139 PARP9 3 3q21 PARP9 HGNC:24118 true hsa:83666 NP_001139574.1:NM_001146102.1;NP_001139575.1:NM_001146103.1;NP_001139576.1:NM_001146104.1;NP_001139577.1:NM_001146105.1;NP_113646.2:NM_031458.2 Expressed in lymphocyte-rich tissues, spleen, lymph nodes, peripheral blood lymphocytes and colonic mucosa. Also expressed in nonhematopoietic tissues such as heart and skeletal muscle. Isoform 2 is the predominant form. Most abundantly expressed in lymphomas with a brisk host inflammatory response. In diffuse large B-cell lymphomas tumors, expressed specifically by malignant B-cells. Interacts with DTX3L 2020-06-12T23:07:21Z 2020-07-28T02:29:24Z 0 0 0 4086 CDBP04085 TCDD-inducible poly [ADP-ribose] polymerase Q7Z3E1 PARPT_HUMAN true false Enzyme Homo_sapiens TIPARP 657 76226.74 6.658 Involved in NAD+ ADP-ribosyltransferase activity Poly [ADP-ribose] polymerase using NAD(+) as a substrate to transfer ADP-ribose onto glutamic acid residues of a protein acceptor; repeated rounds of ADP-ribosylation leads to the formation of poly(ADPribose) chains on the protein, thereby altering the function of the target protein. May play a role in the adaptative response to chemical exposure (TCDD) and thereby mediates certain effects of the chemicals (By similarity). NM_001184717.1 296080688 TIPARP 3 3q25.31 TIPARP HGNC:23696 true hsa:25976 NP_001171646.1:NM_001184717.1;NP_001171647.1:NM_001184718.1;NP_056323.2:NM_015508.4 2020-06-12T23:07:21Z 2020-07-28T02:29:24Z 1 1 0 4087 CDBP04086 Nicotinate phosphoribosyltransferase Q6XQN6 PNCB_HUMAN true false Enzyme Homo_sapiens NAPRT1 538 57577.575 5.675 Involved in nicotinate phosphoribosyltransferase activity Catalyzes the conversion of nicotinic acid (NA) to NA mononucleotide (NaMN). Essential for NA to increase cellular NAD levels and prevent oxidative stress of the cells. AB242230 154936864 NAPRT1 8 8q24.3 NAPRT1 HGNC:30450 true hsa:93100 NP_660202.3:NM_145201.4 2020-06-12T23:07:21Z 2020-07-28T02:29:24Z 0 0 0 4088 CDBP04087 Prostaglandin reductase 2 Q8N8N7 PTGR2_HUMAN true false Enzyme Homo_sapiens PTGR2 351 38498.7 5.08 Involved in zinc ion binding Functions as 15-oxo-prostaglandin 13-reductase and acts on 15-keto-PGE1, 15-keto-PGE2, 15-keto-PGE1-alpha and 15-keto- PGE2-alpha with highest activity towards 15-keto-PGE2. Overexpression represses transcriptional activity of PPARG and inhibits adipocyte differentiation ["None"] ["None"] AY346133 PTGR2 Chromosome:1 14q24.3 PTGR2 HGNC:20149 true 2020-06-12T23:07:21Z 2020-07-28T02:29:24Z 0 1 0 4089 CDBP04088 NAD-dependent protein deacetylase sirtuin-1 Q96EB6 SIRT1_HUMAN true false Enzyme Homo_sapiens SIRT1 747 50496.105 4.775 Involved in zinc ion binding NAD-dependent protein deacetylase that links transcriptional regulation directly to intracellular energetics and participates in the coordination of several separated cellular functions such as cell cycle, response to DNA damage, metobolism, apoptosis and autophagy. Can modulate chromatin function through deacetylation of histones and can promote alterations in the methylation of histones and DNA, leading to transcriptional repression. Deacetylates a broad range of transcription factors and coregulators, thereby regulating target gene expression positively and negatively. Serves as a sensor of the cytosolic ratio of NAD(+)/NADH which is altered by glucose deprivation and metabolic changes associated with caloric restriction. Is essential in skeletal muscle cell differentiation and in response to low nutrients mediates the inhibitory effect on skeletal myoblast differentiation which also involves 5'-AMP-activated protein kinase (AMPK) and nicotinamide phosphoribosyltransferase (NAMPT). Component of the eNoSC (energy-dependent nucleolar silencing) complex, a complex that mediates silencing of rDNA in response to intracellular energy status and acts by recruiting histone-modifying enzymes. The eNoSC complex is able to sense the energy status of cell: upon glucose starvation, elevation of NAD(+)/NADP(+) ratio activates SIRT1, leading to histone H3 deacetylation followed by dimethylation of H3 at 'Lys-9' (H3K9me2) by SUV39H1 and the formation of silent chromatin in the rDNA locus. Deacetylates 'Lys-266' of SUV39H1, leading to its activation. Inhibits skeletal muscle differentiation by deacetylating PCAF and MYOD1. Deacetylates H2A and 'Lys-26' of HIST1H1E. Deacetylates 'Lys-16' of histone H4 (in vitro). Involved in NR0B2/SHP corepression function through chromatin remodeling: Recruited to LRH1 target gene promoters by NR0B2/SHP thereby stimulating histone H3 and H4 deacetylation leading to transcriptional repression. Proposed to contribute to genomic integrity via positive regulation of telomere length; however, reports on localization to pericentromeric heterochromatin are conflicting. Proposed to play a role in constitutive heterochromatin (CH) formation and/or maintenance through regulation of the available pool of nuclear SUV39H1. Upon oxidative/metabolic stress decreases SUV39H1 degradation by inhibiting SUV39H1 polyubiquitination by MDM2. This increase in SUV39H1 levels enhances SUV39H1 turnover in CH, which in turn seems to accelerate renewal of the heterochromatin which correlates with greater genomic integrity during stress response. Deacetylates 'Lys-382' of p53/TP53 and impairs its ability to induce transcription-dependent proapoptotic program and modulate cell senescence. Deacetylates TAF1B and thereby represses rDNA transcription by the RNA polymerase I. Deacetylates MYC, promotes the association of MYC with MAX and decreases MYC stability leading to compromised transformational capability. Deacetylates FOXO3 in response to oxidative stress thereby increasing its ability to induce cell cycle arrest and resistance to oxidative stress but inhibiting FOXO3-mediated induction of apoptosis transcriptional activity; also leading to FOXO3 ubiquitination and protesomal degradation. Appears to have a similar effect on MLLT7/FOXO4 in regulation of transcriptional activity and apoptosis. Deacetylates DNMT1; thereby impairs DNMT1 methyltransferase-independent transcription repressor activity, modulates DNMT1 cell cycle regulatory function and DNMT1-mediated gene silencing. Deacetylates RELA/NF-kappa-B p65 thereby inhibiting its transactivating potential and augments apoptosis in response to TNF-alpha. Deacetylates HIF1A, KAT5/TIP60, RB1 and HIC1. Deacetylates FOXO1 resulting in its nuclear retention and enhancement of its transcriptional activity leading to increased gluconeogenesis in liver. Inhibits E2F1 transcriptional activity and apoptotic function, possibly by deacetylation. Involved in HES1- and HEY2-mediated transcriptional repression. In cooperation with MYCN seems to be involved in transcriptional repression of DUSP6/MAPK3 leading to MYCN stabilization by phosphorylation at 'Ser-62'. Deacetylates MEF2D. Required for antagonist-mediated transcription suppression of AR-dependent genes which may be linked to local deacetylation of histone H3. Represses HNF1A-mediated transcription. Required for the repression of ESRRG by CREBZF. Modulates AP-1 transcription factor activity. Deacetylates NR1H3 AND NR1H2 and deacetylation of NR1H3 at 'Lys-434' positively regulates transcription of NR1H3:RXR target genes, promotes NR1H3 proteosomal degradation and results in cholesterol efflux; a promoter clearing mechanism after reach round of transcription is proposed. Involved in lipid metabolism. Implicated in regulation of adipogenesis and fat mobilization in white adipocytes by repression of PPARG which probably involves association with NCOR1 and SMRT/NCOR2. Deacetylates ACSS2 leading to its activation, and HMGCS1. Involved in liver and muscle metabolism. Through deacteylation and activation of PPARGC1A is required to activate fatty acid oxidation in skeletel muscle under low-glucose conditions and is involved in glucose homeostasis. Involved in regulation of PPARA and fatty acid beta-oxidation in liver. Involved in positive regulation of insulin secretion in pancreatic beta cells in response to glucose; the function seems to imply transcriptional repression of UCP2. Proposed to deacetylate IRS2 thereby facilitating its insuline-induced tyrosine phosphorylation. Deacetylates SREBF1 isoform SREBP-1C thereby decreasing its stability and transactivation in lipogenic gene expression. Involved in DNA damage response by repressing genes which are involved in DNA repair, such as XPC and TP73, deacetylating XRCC6/Ku70, and faciliting recruitment of additional factors to sites of damaged DNA, such as SIRT1-deacetylated NBN can recruit ATM to initiate DNA repair and SIRT1-deacetylated XPA interacts with RPA2. Also involved in DNA repair of DNA double-strand breaks by homologous recombination and specifically single-strand annealing independently of XRCC6/Ku70 and NBN. Transcriptional suppression of XPC probably involves an E2F4:RBL2 suppressor complex and protein kinase B (AKT) signaling. Transcriptional suppression of TP73 probably involves E2F4 and PCAF. Deacetylates WRN thereby regulating its helicase and exonuclease activities and regulates WRN nuclear translocation in response to DNA damage. Deacetylates APEX1 at 'Lys-6' and 'Lys-7' and stimulates cellular AP endonuclease activity by promoting the association of APEX1 to XRCC1. Increases p53/TP53-mediated transcription-independent apoptosis by blocking nuclear translocation of cytoplasmic p53/TP53 and probably redirecting it to mitochondria. Deacetylates XRCC6/Ku70 at 'Lys-539' and 'Lys-542' causing it to sequester BAX away from mitochondria thereby inhibiting stress-induced apoptosis. Is involved in autophagy, presumably by deacetylating ATG5, ATG7 and MAP1LC3B/ATG8. Deacetylates AKT1 which leads to enhanced binding of AKT1 and PDK1 to PIP3 and promotes their activation. Proposed to play role in regulation of STK11/LBK1-dependent AMPK signaling pathways implicated in cellular senescence which seems to involve the regulation of the acetylation status of STK11/LBK1. Can deacetylate STK11/LBK1 and thereby increase its activity, cytoplasmic localization and association with STRAD; however, the relevance of such activity in normal cells is unclear. In endothelial cells is shown to inhibit STK11/LBK1 activity and to promote its degradation. Deacetylates SMAD7 at 'Lys-64' and 'Lys-70' thereby promoting its degradation. Deacetylates CIITA and augments its MHC class II transacivation and contributes to its stability. Deacteylates MECOM/EVI1. Isoform 2 is shown to deacetylate 'Lys-382' of p53/TP53, however with lower activity than isoform 1. In combination, the two isoforms exert an additive effect. Isoform 2 regulates p53/TP53 expression and cellular stress response and is in turn repressed by p53/TP53 presenting a SIRT1 isoform-dependent auto-regulatory loop. In case of HIV-1 infection, interacts with and deacetylates the viral Tat protein. The viral Tat protein inhibits SIRT1 deacetylation activity toward RELA/NF-kappa-B p65, thereby potentiates its transcriptional activity and SIRT1 is proposed to contribute to T-cell hyperactivation during infection. SirtT1 75 kDa fragment: catalytically inactive 75SirT1 may be involved in regulation of apoptosis. May be involved in protecting chondrocytes from apoptotic death by associating with cytochrome C and interfering with apoptosome assembly. AF083106 7555471 SIRT1 10 10q21.3 SIRT1 HGNC:14929 true hsa:23411 NP_001135970.1:NM_001142498.1;NP_036370.2:NM_012238.4 Widely expressed. zinc ion Found in a complex with PCAF and MYOD1. Interacts with FOXO1; the interaction deacetylates FOXO1, resulting in its nuclear retention and promotion of its transcriptional activity Component of the eNoSC complex, composed of SIRT1, SUV39H1 and RRP8. Interacts with HES1, HEY2 and PML. Interacts with RPS19BP1/AROS. Interacts with KIAA1967/DBC1 (via N-terminus); the interaction disrupts the interaction between SIRT1 and p53/TP53. Interacts with SETD7; the interaction induces the dissociation of SIRT1 from p53/TP53 and increases p53/TP53 activity. Interacts with MYCN, NR1I2, CREBZF, TSC2, TLE1, FOS, JUN, NR0B2, PPARG, NCOR, IRS1, IRS2 and NMNAT1. Interacts with HNF1A; the interaction occurs under nutrient restriction. Interacts with SUZ12; the interaction mediates the association with the PRC4 histone methylation complex which is specific as an association with PCR2 and PCR3 complex variants is not found. Interacts with HIV-1 tat 2020-06-12T23:07:21Z 2020-07-28T02:29:24Z 1 1 1 4090 CDBP04089 NAD-dependent protein deacetylase sirtuin-2 Q8IXJ6 SIRT2_HUMAN true false Enzyme Homo_sapiens SIRT2 389 26711.565 6.524 Involved in zinc ion binding NAD-dependent protein deacetylase, which deacetylates internal lysines on histone and non-histone proteins. Deacetylates 'Lys-40' of alpha-tubulin. Involved in the control of mitotic exit in the cell cycle, probably via its role in the regulation of cytoskeleton. Deacetylates PCK1, opposing proteasomal degradation. Deacetylates 'Lys-310' of RELA. 1J8F AF083107 13400020 SIRT2 19 19q13 SIRT2 HGNC:10886 true hsa:22933 NP_001180215.1:NM_001193286.1;NP_036369.2:NM_012237.3;NP_085096.1:NM_030593.2 Widely expressed. Highly expressed in heart, brain and skeletal muscle, while it is weakly expressed in placenta and lung. Down-regulated in many gliomas suggesting that it may act as a tumor suppressor gene in human gliomas possibly through the regulation of microtubule network. zinc ion Interacts with HDAC6, suggesting that these proteins belong to a large complex that deacetylate the cytoskeleton 2020-06-12T23:07:21Z 2020-07-28T02:29:24Z 0 1 1 4091 CDBP04090 NAD-dependent protein deacetylase sirtuin-3, mitochondrial Q9NTG7 SIRT3_HUMAN true false Enzyme Homo_sapiens SIRT3 399 28566.64 5.802 Involved in zinc ion binding NAD-dependent protein deacetylase. Activates mitochondrial target proteins, including ACSS1, IDH2 and GDH by deacetylating key lysine residues. Contributes to the regulation of the cellular energy metabolism. Important for regulating tissue-specific ATP levels. 3GLR;3GLS;3GLT;3GLU;4FVT;4HD8 AF083108 5225322 SIRT3 11 11p15.5 SIRT3 HGNC:14931 true hsa:23410 NP_001017524.1:NM_001017524.2;NP_036371.1:NM_012239.5 Widely expressed. zinc ion Interacts with NDUFA9, ACSS1, IDH2 and GDH 2020-06-12T23:07:21Z 2020-07-28T02:29:24Z 0 1 1 4092 CDBP04091 NAD-dependent protein deacetylase sirtuin-4 Q9Y6E7 SIRT4_HUMAN true false Enzyme Homo_sapiens SIRT4 314 35187.205 8.775 Involved in zinc ion binding NAD-dependent protein ADP-ribosyl transferase. Catalyzes the transfer of ADP-ribosyl groups onto target proteins, including mitochondrial GLUD1. Inhibits GLUD1 enzyme activity. Down-regulates insulin secretion. Has no detectable protein deacetylase activity. AF083109 5225324 SIRT4 12 12q SIRT4 HGNC:14932 true hsa:23409 NP_036372.1:NM_012240.2 Detected in vascular smooth muscle and striated muscle. Detected in insulin-producing beta-cells in pancreas islets of Langerhans (at protein level). Widely expressed. Weakly expressed in leukocytes and fetal thymus. zinc ion Interacts with GLUD1, IDE and SLC25A5 2020-06-12T23:07:21Z 2020-07-28T02:29:24Z 0 1 1 4093 CDBP04092 NAD-dependent protein deacylase sirtuin-5, mitochondrial Q9NXA8 SIRT5_HUMAN true false Enzyme Homo_sapiens SIRT5 310 31993.505 8.584 Involved in zinc ion binding NAD-dependent lysine demalonylase and desuccinylase that specifically removes malonyl and succinyl groups on target proteins. Activates CPS1 and contributes to the regulation of blood ammonia levels during prolonged fasting: acts by mediating desuccinylation of CPS1, thereby increasing CPS1 activity in response to elevated NAD levels during fasting. Has weak NAD-dependent protein deacetylase activity; however this activity may not be physiologically relevant in vivo. Can deacetylate cytochrome c (CYCS) and a number of other proteins in vitro. 2B4Y;2NYR;3RIG;3RIY;4F4U;4F56;4G1C;4HDA AF083110 5225326 SIRT5 6 6p23 SIRT5 HGNC:14933 true hsa:23408 NP_001180196.1:NM_001193267.2;NP_001229756.1:NM_001242827.1;NP_036373.1:NM_012241.4;NP_112534.1:NM_031244.3 Widely expressed. zinc ion Interacts with CPS1 . Monomer. Homodimer. Forms homodimers upon suramin binding 2020-06-12T23:07:21Z 2020-07-28T02:29:25Z 0 1 1 4094 CDBP04093 NAD-dependent protein deacetylase sirtuin-7 Q9NRC8 SIRT7_HUMAN true false Enzyme Homo_sapiens SIRT7 400 44897.945 9.744 Involved in zinc ion binding NAD-dependent protein deacetylase that specifically mediates deacetylation of histone H3 at 'Lys-18' (H3K18Ac). In contrast to other histone deacetylases, displays selectivity for a single histone mark, H3K18Ac, directly linked to control of gene expression. H3K18Ac is mainly present around the transcription start site of genes and has been linked to activation of nuclear hormone receptors. SIRT7 thereby acts as a transcription repressor. Moreover, H3K18 hypoacetylation has been reported as a marker of malignancy in various cancers and seems to maintain the transformed phenotype of cancer cells. These data suggest that SIRT7 may play a key role in oncogenic transformation by suppresses expression of tumor suppressor genes by locus-specific deacetylation of H3K18Ac at promoter regions. Also required to restore the transcription of ribosomal RNA (rRNA) at the exit from mitosis: promotes the association of RNA polymerase I with the rDNA promoter region and coding region. Stimulates transcription activity of the RNA polymerase I complex. May also deacetylate p53/TP53 and promotes cell survival, however such data need additional confirmation. AF233395 7243747 SIRT7 17 17q25 SIRT7 HGNC:14935 true hsa:51547 NP_057622.1:NM_016538.2 zinc ion Interacts with UBTF and the RNA polymerase I complex. Interacts with components of the B-WICH complex, such as MYBBP1A, SMARCA5/SNF2H and BAZ1B/WSTF. Interacts with ELK4, leading to stabilization at target promoters for H3K18Ac deacetylation. Interacts with histone H2A and/or histone H2B 2020-06-12T23:07:21Z 2020-07-28T02:29:25Z 0 1 1 4095 CDBP04094 tRNA 2'-phosphotransferase 1 Q86TN4 TRPT1_HUMAN true false Enzyme Homo_sapiens TRPT1 253 27741.69 9.985 Involved in transferase activity, transferring phosphorus-containing groups Catalyzes the last step of tRNA splicing, the transfer of the splice junction 2'-phosphate from ligated tRNA to NAD to produce ADP-ribose 1''-2'' cyclic phosphate (Probable). NM_001033678.3 238550153 TRPT1 11 11q13.1 TRPT1 HGNC:20316 true hsa:83707 NP_001028850.2:NM_001033678.3;NP_001153861.1:NM_001160389.1;NP_001153862.1:NM_001160390.1;NP_001153864.1:NM_001160392.1;NP_001153865.1:NM_001160393.1;NP_113660.1:NM_031472.3 Widely expressed. Weakly or not expressed in lung, spleen, small intestine and peripheral blood leukocytes. 2020-06-12T23:07:21Z 2020-07-28T02:29:25Z 0 0 0 4096 CDBP04095 Complex I intermediate-associated protein 30, mitochondrial Q9Y375 CIA30_HUMAN true false Enzyme Homo_sapiens NDUFAF1 327 37763.4 7.8 Involved in unfolded protein binding Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) ["None"] ["None"] AF151823 4929599 NDUFAF1 Chromosome:1 15q11.2-q21.3 NDUFAF1 HGNC:18828 true 2020-06-12T23:07:21Z 2020-06-12T23:07:21Z 0 0 0 4097 CDBP04096 Evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial Q9BQ95 ECSIT_HUMAN true false Enzyme Homo_sapiens ECSIT 431 49147.8 6.25 Involved in oxidoreductase activity, acting on NADH or Adapter protein of the Toll-like and IL-1 receptor signaling pathway that is involved in the activation of NF-kappa-B via MAP3K1. Promotes proteolytic activation of MAP3K1. Involved in the BMP signaling pathway. Required for normal embryonic development. Required for efficient assembly of mitochondrial NADH:ubiquinone oxidoreductase ["None"] ["None"] AF243044 7407498 ECSIT Chromosome:1 19p13.2 ECSIT HGNC:29548 true 2020-06-12T23:07:21Z 2020-06-12T23:07:21Z 0 0 0 4098 CDBP04097 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4 Q9P032 NDUF4_HUMAN true false Enzyme Homo_sapiens NDUFAF4 175 20266.3 9.35 Involved in calmodulin binding Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). May be involved in cell proliferation and survival of hormone-dependent tumor cells. May be a regulator of breast tumor cell invasion ["None"] ["None"] AF060508 12001966 NDUFAF4 Chromosome:6 6q16.1 NDUFAF4 HGNC:21034 true 2020-06-12T23:07:21Z 2020-06-12T23:07:21Z 0 0 0 4099 CDBP04098 Mimitin, mitochondrial Q8N183 MIMIT_HUMAN true false Enzyme Homo_sapiens NDUFAF2 169 19856.2 9.47 Involved in NADH dehydrogenase (ubiquinone) activity Acts as a molecular chaperone for mitochondrial complex I assembly ["None"] ["None"] AB183433 61675561 NDUFAF2 Chromosome:5 5q12.1 NDUFAF2 HGNC:28086 true 2020-06-12T23:07:21Z 2020-06-12T23:07:21Z 0 0 0 4100 CDBP04099 MOSC domain-containing protein 2, mitochondrial Q969Z3 MOSC2_HUMAN true false Enzyme Homo_sapiens MOSC2 335 38023.0 9.5 Involved in catalytic activity Catalytic component of the benzamidoxime prodrug- converting complex, a complex required to reduce N-hydroxylated structures, such as benzamidoxime prodrug. Benzamidoxime is an amidine prodrug produced by N-hydroxylation which is used to enhance bioavailability and increase intestinal absorption. It is then reduced into benzamidine, its active amidine, by the benzamidoxime prodrug-converting complex ["None"] ["None"] NM_017898.3 31542713 MOSC2 Chromosome:1 1q41 MOSC2 HGNC:26064 true 2020-06-12T23:07:21Z 2020-07-28T02:29:25Z 0 1 0 4101 CDBP04100 Thioredoxin domain-containing protein 2 Q86VQ3 TXND2_HUMAN true false Enzyme Homo_sapiens TXNDC2 553 60461.5 4.5 Involved in nutrient reservoir activity Probably plays a regulatory role in sperm development. May participate in regulation of fibrous sheath (FS) assembly by supporting the formation of disulfide bonds during sperm tail morphogenesis. May also be required to rectify incorrect disulfide pairing and generate suitable pairs between the FS constituents. Can reduce disulfide bonds in vitro in the presence of NADP and thioredoxin reductase ["None"] ["None"] NM_001098529.1 148727319 TXNDC2 TXNDC2 HGNC:16470 true 2020-06-12T23:07:21Z 2020-06-12T23:07:21Z 0 0 0 4102 CDBP04101 Short-chain dehydrogenase/reductase 3 O75911 DHRS3_HUMAN true false Enzyme Homo_sapiens DHRS3 302 33548.115 8.838 Involved in oxidoreductase activity Catalyzes the reduction of all-trans-retinal to all-trans-retinol in the presence of NADPH. AF061741 3450828 DHRS3 1 1p36.1 DHRS3 HGNC:17693 true hsa:9249 ENSG00000162496-MONOMER NP_004744.2:NM_004753.4 Widely expressed with highest levels found in heart, placenta, lung, liver, kidney, pancreas, thyroid, testis, stomach, trachea and spinal cord. Lower levels found in skeletal muscle, intestine and lymph node. No expression detected in brain. In the retina, expressed in cone but not rod outer segments. 2020-06-12T23:07:21Z 2020-06-12T23:07:21Z 0 0 0 4103 CDBP04102 Oxidoreductase HTATIP2 Q9BUP3 HTAI2_HUMAN true false Enzyme Homo_sapiens HTATIP2 242 27117.9 8.88 Involved in catalytic activity Oxidoreductase required for tumor suppression. NAPDH- bound form inhibits nuclear import by competing with nuclear import substrates for binding to a subset of nuclear transport receptors. May act as a redox sensor linked to transcription through regulation of nuclear import. Isoform 1 is a metastasis suppressor with proapoptotic as well as antiangiogenic properties. Isoform 2 has an antiapoptotic effect ["None"] ["None"] 2BKA NM_001098521.1 148728168 HTATIP2 Chromosome:1 11p15.1 HTATIP2 HGNC:16637 true 2020-06-12T23:07:21Z 2020-06-12T23:07:21Z 0 0 0 4104 CDBP04103 Putative neutrophil cytosol factor 1B A6NI72 NCF1B_HUMAN true false Enzyme Homo_sapiens NCF1B 391 44816.7 9.54 Involved in protein binding May be required for activation of the latent NADPH oxidase (necessary for superoxide production) ["None"] ["None"] 1UEC NM_000265 115298672 NCF1B Chromosome:7 7q11.23 NCF1B HGNC:32522 true 2020-06-12T23:07:21Z 2020-06-12T23:07:21Z 0 0 0 4105 CDBP04104 Putative neutrophil cytosol factor 1C A8MVU1 NCF1C_HUMAN true false Enzyme Homo_sapiens NCF1C 366 41850.2 9.17 Involved in protein binding May be required for activation of the latent NADPH oxidase (necessary for superoxide production) ["None"] ["None"] 1UEC NM_000265 115298672 NCF1C Chromosome:7 7q11.23 NCF1C HGNC:32523 true 2020-06-12T23:07:21Z 2020-06-12T23:07:21Z 0 0 0 4106 CDBP04105 NADPH oxidase activator 1 Q86UR1 NOXA1_HUMAN true false Enzyme Homo_sapiens NOXA1 476 50933.1 6.5 Involved in binding Functions as an activator of NOX1, a superoxide- producing NADPH oxidase. Functions in the production of reactive oxygen species (ROS) which participate in a variety of biological processes including host defense, hormone biosynthesis, oxygen sensing and signal transduction. May also activate CYBB/gp91phox and NOX3 ["None"] ["None"] AB095031 30844228 NOXA1 Chromosome:9 9q34.3 NOXA1 HGNC:10668 true 2020-06-12T23:07:21Z 2020-06-12T23:07:21Z 0 0 0 4107 CDBP04106 Putative tyrosine-protein phosphatase auxilin O75061 AUXI_HUMAN true false Enzyme Homo_sapiens DNAJC6 913 105673.905 7.471 Involved in heat shock protein binding Recruits HSPA8/HSC70 to clathrin-coated vesicles and promotes uncoating of clathrin-coated vesicles (By similarity). NM_014787.2 7662146 DNAJC6 1 1p31.3 DNAJC6 HGNC:15469 true hsa:9829 NP_001243793.1:NM_001256864.1;NP_001243794.1:NM_001256865.1;NP_055602.1:NM_014787.3 Interacts with HSPA8/HSC70. Interacts with CLTC. Interacts with AP2A2 2020-06-12T23:07:21Z 2020-06-12T23:07:21Z 0 0 0 4108 CDBP04107 Dual specificity protein phosphatase CDC14A Q9UNH5 CC14A_HUMAN true false Enzyme Homo_sapiens CDC14A 594 66573.305 9.1 Involved in phosphatase activity Dual-specificity phosphatase. Required for centrosome separation and productive cytokinesis during cell division. May dephosphorylate the APC subunit FZR1/CDH1, thereby promoting APC-FZR1 dependent degradation of mitotic cyclins and subsequent exit from mitosis. NM_003672.3 15451929 CDC14A 1 1p21 CDC14A HGNC:1718 true hsa:8556 NP_003663.2:NM_003672.3;NP_201569.1:NM_033312.2;NP_201570.1:NM_033313.2 Interacts with KIF20A, which is required to localize CDC14 to the midzone of the mitotic spindle 2020-06-12T23:07:21Z 2020-06-12T23:07:21Z 0 0 0 4109 CDBP04108 Dual specificity protein phosphatase CDC14B O60729 CC14B_HUMAN true false Enzyme Homo_sapiens CDC14B 498 52310.04 8.651 Involved in phosphatase activity Dual-specificity phosphatase involved in DNA damage response. Essential regulator of the G2 DNA damage checkpoint: following DNA damage, translocates to the nucleus and dephosphorylates FZR1/CDH1, a key activator of the anaphase promoting complex/cyclosome (APC/C). Dephosphorylation of FZR1/CDH1 activates the APC/C, leading to the ubiquitination of PLK1, preventing entry into mitosis. Preferentially dephosphorylates proteins modified by proline-directed kinases. 1OHC;1OHD;1OHE NM_033331.2 15451936 CDC14B 9 9q22.3 CDC14B HGNC:1719 true hsa:8555 NP_001070649.1:NM_001077181.1;NP_003662.1:NM_003671.3;NP_201588.1:NM_033331.2 Interacts with FZR1/CDH1 2020-06-12T23:07:21Z 2020-06-12T23:07:21Z 0 0 0 4110 CDBP04109 Cyclin-dependent kinase inhibitor 3 Q16667 CDKN3_HUMAN true false Enzyme Homo_sapiens CDKN3 212 19358.945 8.021 Involved in phosphatase activity May play a role in cell cycle regulation. Dual specificity phosphatase active toward substrates containing either phosphotyrosine or phosphoserine residues. Dephosphorylates CDK2 at 'Thr-160' in a cyclin-dependent manner. 1FPZ;1FQ1 AF213033 12734644 CDKN3 14 14q22 CDKN3 HGNC:1791 true hsa:1033 NP_001124323.1:NM_001130851.1;NP_005183.2:NM_005192.3 Interacts with cyclin-dependent kinases such as CDK1, CDK2 and CDK3. Does not interact with CDK4. Interacts (via C-terminus) with phosphorylated CDK2 (via C-terminal helix). Interacts with MS4A3 (via C-terminus); the interaction enhances CDKN3 enzymatic activity 2020-06-12T23:07:21Z 2020-06-12T23:07:21Z 0 0 0 4111 CDBP04110 RNA polymerase II subunit A C-terminal domain phosphatase Q9Y5B0 CTDP1_HUMAN true false Enzyme Homo_sapiens CTDP1 961 92376.475 5.112 Involved in phosphoprotein phosphatase activity Processively dephosphorylates 'Ser-2' and 'Ser-5' of the heptad repeats YSPTSPS in the C-terminal domain of the largest RNA polymerase II subunit. This promotes the activity of RNA polymerase II. Plays a role in the exit from mitosis by dephosphorylating crucial mitotic substrates (USP44, CDC20 and WEE1) that are required for M-phase-promoting factor (MPF)/CDK1 inactivation. 1J2X;1ONV;2K7L NM_004715.3 67188445 CTDP1 18 18q23 CTDP1 HGNC:2498 true hsa:9150 NP_001189433.1:NM_001202504.1;NP_004706.3:NM_004715.4;NP_430255.2:NM_048368.3 Ubiquitously expressed. Isoform 3 is expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and placenta. Homodimer. Interacts with GTF2F1. Interacts with WDR77, SNRPB and SNRNP70 2020-06-12T23:07:21Z 2020-07-28T02:29:25Z 0 0 1 4112 CDBP04111 CTD nuclear envelope phosphatase 1 O95476 DULRD_HUMAN true false Enzyme Homo_sapiens CTDNEP1 244 28376.745 9.766 Involved in phosphatase activity Serine/threonine protein phosphatase forming with CNEP1R1 an active phosphatase complex that dephosphorylates and may activate LPIN1 and LPIN2. LPIN1 and LPIN2 are phosphatidate phosphatases that catalyze the conversion of phosphatidic acid to diacylglycerol and control the metabolism of fatty acids at differents levels. May indirectly modulate the lipid composition of nuclear and/or endoplasmic reticulum membranes and be required for proper nuclear membrane morphology and/or dynamics. May also indirectly regulate the production of lipid droplets and triacylglycerol. May antagonize BMP signaling. NM_001143775.1 219555649 DULLARD 17 17p13 DULLARD HGNC:19085 true hsa:23399 NP_001137247.1:NM_001143775.1;NP_056158.2:NM_015343.4 Muscle specific with lower expression in other metabolic tissues. Interacts with CNEP1R1; the complex dephosphorylates LPIN1 and LPIN2 2020-06-12T23:07:21Z 2020-06-12T23:07:21Z 0 0 0 4113 CDBP04112 Dual specificity protein phosphatase 10 Q9Y6W6 DUS10_HUMAN true false Enzyme Homo_sapiens DUSP10 482 52641.635 7.736 Involved in phosphatase activity Protein phosphatase involved in the inactivation of MAP kinases. Has a specificity for the MAPK11/MAPK12/MAPK13/MAPK14 subfamily. 1ZZW;2OUC;2OUD;3TG1 AB026436 5138995 DUSP10 1 1q41 DUSP10 HGNC:3065 true hsa:11221 NP_009138.1:NM_007207.4;NP_653329.1:NM_144728.2;NP_653330.1:NM_144729.2 Detected in brain. Monomer. Interacts with MAPK14 2020-06-12T23:07:21Z 2020-06-12T23:07:21Z 0 0 0 4114 CDBP04113 Dual specificity protein phosphatase 12 Q9UNI6 DUS12_HUMAN true false Enzyme Homo_sapiens DUSP12 340 37687.015 6.844 Involved in phosphatase activity AF119226 5764099 DUSP12 1 1q21-q22 DUSP12 HGNC:3067 true hsa:11266 NP_009171.1:NM_007240.1 Ubiquitous, highest expression in spleen, testis, ovary, and peripheral blood leukocytes and lower expression in liver and lung. zinc ions 2020-06-12T23:07:21Z 2020-07-28T02:29:26Z 0 1 0 4115 CDBP04114 Dual specificity protein phosphatase 13 Q9UII6 DUS13_HUMAN true false Enzyme Homo_sapiens DUSP13 198 20657.415 7.505 Involved in phosphatase activity May be involved in the regulation of meiosis and/or differentiation of testicular germ cells during spermatogenesis. Exhibits intrinsic phosphatase activity towards both phospho-seryl/threonyl and -tyrosyl residues of myelin basic protein, with similar specific activities in vitro. 2GWO;2PQ5 AB027004 DUSP13 10 10q22.2 DUSP13 HGNC:19681 true hsa:51207 NP_001007272.1:NM_001007271.1;NP_001007273.1:NM_001007272.1;NP_001007274.1:NM_001007273.1;NP_057448.3:NM_016364.3 Most abundantly expressed in the testis. Also found in the skeletal muscle. Testis-specific (at protein level). 2020-06-12T23:07:21Z 2020-06-12T23:07:21Z 0 0 0 4116 CDBP04115 Dual specificity protein phosphatase 16 Q9BY84 DUS16_HUMAN true false Enzyme Homo_sapiens DUSP16 665 73100.95 7.463 Involved in phosphatase activity Dual specificity protein phosphatase involved in the inactivation of MAP kinases. Dephosphorylates MAPK10 bound to ARRB2. 2VSW;3TG3 NM_030640.2 38372911 DUSP16 12 12p13 DUSP16 HGNC:17909 true hsa:80824 NP_085143.1:NM_030640.2 Interacts with ARRB2 2020-06-12T23:07:21Z 2020-06-12T23:07:21Z 0 0 0 4117 CDBP04116 Dual specificity protein phosphatase 19 Q8WTR2 DUS19_HUMAN true false Enzyme Homo_sapiens DUSP19 217 18295.625 8.074 Involved in phosphatase activity Has a dual specificity toward Ser/Thr and Tyr-containing proteins. 3S4E AB038770 18146956 DUSP19 2 2q32.1 DUSP19 HGNC:18894 true hsa:142679 NP_001135786.1:NM_001142314.1;NP_543152.1:NM_080876.3 Expressed in the heart, lung, liver, and pancreas. The expression level in the pancreas is the highest. 2020-06-12T23:07:21Z 2020-06-12T23:07:21Z 0 0 0 4118 CDBP04117 Dual specificity protein phosphatase 1 P28562 DUS1_HUMAN true false Enzyme Homo_sapiens DUSP1 367 39297.37 7.195 Involved in phosphatase activity Dual specificity phosphatase that dephosphorylates MAP kinase MAPK1/ERK2 on both 'Thr-183' and 'Tyr-185', regulating its activity during the meiotic cell cycle (By similarity). BC022463 18490273 DUSP1 5 5q34 DUSP1 HGNC:3064 true hsa:1843 NP_004408.1:NM_004417.3 Expressed at high levels in the lung, liver placenta and pancreas. Moderate levels seen in the heart and skeletal muscle. Lower levels found in the brain and kidney. 2020-06-12T23:07:21Z 2020-06-12T23:07:21Z 0 0 0 4119 CDBP04118 Dual specificity phosphatase 28 Q4G0W2 DUS28_HUMAN true false Enzyme Homo_sapiens DUSP28 176 18323.885 8.277 Involved in phosphatase activity BC036198 71051533 DUSP28 2 2q37.3 DUSP28 HGNC:33237 true hsa:285193 NP_001028747.1:NM_001033575.1 2020-06-12T23:07:21Z 2020-06-12T23:07:21Z 0 0 0 4120 CDBP04119 Dual specificity protein phosphatase 3 P51452 DUS3_HUMAN true false Enzyme Homo_sapiens DUSP3 185 20478.1 7.796 Involved in phosphatase activity Shows activity both for tyrosine-protein phosphate and serine-protein phosphate, but displays a strong preference toward phosphotyrosines. Specifically dephosphorylates and inactivates ERK1 and ERK2. 1J4X;1VHR;3F81 BC002682 12803693 DUSP3 17 17q21 DUSP3 HGNC:3069 true hsa:1845 NP_004081.1:NM_004090.3 Interacts with VRK3, which seems to activate it's phosphatase activity 2020-06-12T23:07:21Z 2020-07-28T02:29:26Z 1 0 0 4121 CDBP04120 Dual specificity protein phosphatase 4 Q13115 DUS4_HUMAN true false Enzyme Homo_sapiens DUSP4 394 42952.635 7.36 Involved in phosphatase activity Regulates mitogenic signal transduction by dephosphorylating both Thr and Tyr residues on MAP kinases ERK1 and ERK2. 3EZZ AK314820 189054566 DUSP4 8 8p12-p11 DUSP4 HGNC:3070 true hsa:1846 NP_001385.1:NM_001394.6;NP_476499.1:NM_057158.3 Hollow spherical complex composed of 24 subunits with pseudooctahedral symmetry, has a tetramer as the basic unit 2020-06-12T23:07:21Z 2020-07-28T02:29:27Z 1 0 0 4122 CDBP04121 Dual specificity protein phosphatase 5 Q16690 DUS5_HUMAN true false Enzyme Homo_sapiens DUSP5 384 42046.885 8.346 Involved in phosphatase activity Displays phosphatase activity toward several substrates. The highest relative activity is toward ERK1. 2G6Z AL355512 55958676 DUSP5 10 10q25 DUSP5 HGNC:3071 true hsa:1847 NP_004410.3:NM_004419.3 2020-06-12T23:07:21Z 2020-07-28T02:29:27Z 0 0 1 4123 CDBP04122 Dual specificity protein phosphatase 6 Q16828 DUS6_HUMAN true false Enzyme Homo_sapiens DUSP6 381 42319.27 4.885 Involved in phosphatase activity Inactivates MAP kinases. Has a specificity for the ERK family. 1HZM;1MKP X93920 1418934 DUSP6 12 12q22-q23 DUSP6 HGNC:3072 true hsa:1848 NP_001937.2:NM_001946.2;NP_073143.2:NM_022652.2 2020-06-12T23:07:21Z 2020-07-28T02:29:27Z 1 0 0 4124 CDBP04123 Dual specificity protein phosphatase 7 Q16829 DUS7_HUMAN true false Enzyme Homo_sapiens DUSP7 368 44956.0 6.091 Involved in phosphatase activity Regulates the activity of the MAP kinase family in response to changes in the cellular environment. PYST2-S may act as a negative regulator of PYST2-L although it is unclear whether this is by competing for transcription, translation or activation factors. AF508727 21779999 DUSP7 3 3p21 DUSP7 HGNC:3073 true hsa:1849 NP_001938.2:NM_001947.3 Expressed at significantly higher levels in malignant hematopoietic cells than in corresponding non-malignant cells. 2020-06-12T23:07:21Z 2020-07-28T02:29:27Z 1 0 0 4125 CDBP04124 Dual specificity protein phosphatase 8 Q13202 DUS8_HUMAN true false Enzyme Homo_sapiens DUSP8 625 65825.96 8.234 Involved in phosphatase activity This protein shows both activity toward tyrosine-protein phosphate as well as with serine/threonine-protein phosphate (By similarity). BC038231 54887329 DUSP8 11 11p15.5 DUSP8 HGNC:3074 true hsa:1850 NP_004411.2:NM_004420.2 Abundant in brain, heart and skeletal muscle. 2020-06-12T23:07:21Z 2020-06-12T23:07:21Z 0 0 0 4126 CDBP04125 Dual specificity protein phosphatase 9 Q99956 DUS9_HUMAN true false Enzyme Homo_sapiens DUSP9 384 41867.055 6.117 Involved in phosphatase activity Inactivates MAP kinases. Has a specificity for the ERK family. 2HXP;3LJ8 NM_001395.2 4503421 DUSP9 X Xq28 DUSP9 HGNC:3076 true hsa:1852 NP_001386.1:NM_001395.2 2020-06-12T23:07:21Z 2020-06-12T23:07:21Z 0 0 0 4127 CDBP04126 Lipid phosphate phosphatase-related protein type 2 Q96GM1 LPPR2_HUMAN true false Enzyme Homo_sapiens LPPR2 343 45575.37 9.528 Involved in catalytic activity AK023117 10434892 LPPR2 19 19p13.2 true hsa:64748 NP_001164106.1:NM_001170635.1;NP_073574.2:NM_022737.2 2020-06-12T23:07:21Z 2020-06-12T23:07:21Z 0 0 0 4128 CDBP04127 Lipid phosphate phosphatase-related protein type 3 Q6T4P5 LPPR3_HUMAN true false Enzyme Homo_sapiens LPPR3 718 76036.385 5.97 Involved in catalytic activity AY436785 38073393 LPPR3 19 19p13.3 true hsa:79948 NP_001257295.1:NM_001270366.1;NP_079164.1:NM_024888.2 2020-06-12T23:07:21Z 2020-06-12T23:07:21Z 0 0 0 4129 CDBP04128 M-phase inducer phosphatase 1 P30304 MPIP1_HUMAN true false Enzyme Homo_sapiens CDC25A 524 59086.235 6.944 Involved in protein tyrosine phosphatase activity Tyrosine protein phosphatase which functions as a dosage-dependent inducer of mitotic progression. Directly dephosphorylates CDK1 and stimulates its kinase activity. Also dephosphorylates CDK2 in complex with cyclin E, in vitro. 1C25 NM_001789.2 42490758 CDC25A 3 3p21 CDC25A HGNC:1725 true hsa:993 NP_001780.2:NM_001789.2;NP_963861.1:NM_201567.1 Interacts with CCNB1/cyclin B1. Interacts with YWHAE/14-3-3 epsilon when phosphorylated. Interacts with CUL1 specifically when CUL1 is neddylated and active. Interacts with BTRC/BTRCP1 and FBXW11/BTRCP2. Interactions with CUL1, BTRC and FBXW11 are enhanced upon DNA damage. Interacts with PIM1. Interacts with CHEK2; mediates CDC25A phosphorylation and degradation in response to infrared-induced DNA damages 2020-06-12T23:07:21Z 2020-06-12T23:07:21Z 0 0 0 4130 CDBP04129 M-phase inducer phosphatase 2 P30305 MPIP2_HUMAN true false Enzyme Homo_sapiens CDC25B 580 63441.985 6.313 Involved in protein tyrosine phosphatase activity Tyrosine protein phosphatase which functions as a dosage-dependent inducer of mitotic progression. Required for G2/M phases of the cell cycle progression and abscission during cytokinesis in a ECT2-dependent manner. Directly dephosphorylates CDK1 and stimulates its kinase activity. The three isoforms seem to have a different level of activity. 1CWR;1CWS;1CWT;1QB0;1YM9;1YMD;1YMK;1YML;1YS0;2A2K;2IFD;2IFV;2UZQ;3FQT;3FQU NM_021873.2 11641413 CDC25B 20 20p13 CDC25B HGNC:1726 true hsa:994 NP_004349.1:NM_004358.3;NP_068658.1:NM_021872.2;NP_068659.1:NM_021873.2 Interacts with MAPK14 and 14-3-3 proteins 2020-06-12T23:07:21Z 2020-06-12T23:07:21Z 0 0 0 4131 CDBP04130 M-phase inducer phosphatase 3 P30307 MPIP3_HUMAN true false Enzyme Homo_sapiens CDC25C 473 53364.17 6.784 Involved in protein tyrosine phosphatase activity Functions as a dosage-dependent inducer in mitotic control. Tyrosine protein phosphatase required for progression of the cell cycle. When phosphorylated, highly effective in activating G2 cells into prophase. Directly dephosphorylates CDK1 and activates its kinase activity. 3BZI;3OP3 NM_001790.3 125625350 CDC25C 5 5q31 CDC25C HGNC:1727 true hsa:995 NP_001781.2:NM_001790.3;NP_073720.1:NM_022809.2 Interacts with HIV-1 Vpr, thereby inactivating CDC25C phosphatase activity. Interacts with MAPK14 and 14-3-3 proteins. When phosphorylated on Ser-129 and/or Thr-130, interacts with PLK1 2020-06-12T23:07:21Z 2020-06-12T23:07:21Z 0 0 0 4132 CDBP04131 Myotubularin-related protein 4 Q9NYA4 MTMR4_HUMAN false false Enzyme Homo_sapiens MTMR4 1195 133352.17 6.043 Involved in phosphatase activity Dephosphorylates proteins phosphorylated on Ser, Thr, and Tyr residues and low molecular weight phosphatase substrate para-nitrophenylphosphate. Phosphorylates phosphatidylinositol 3,4,5-trisphosphate (PIP3). AB014547 20521119 MTMR4 17 17q22-q23 MTMR4 HGNC:7452 true hsa:9110 NP_004678.3:NM_004687.4 Expressed in brain, heart, kidney, spleen, liver, colon, testis, muscle, placenta, thyroid gland, pancreas, ovary, prostate, skin, peripheral blood, and bone marrow. 2020-06-12T23:07:22Z 2020-07-28T02:34:11Z 1 1 0 4133 CDBP04132 Myotubularin-related protein 14 Q8NCE2 MTMRE_HUMAN true false Enzyme Homo_sapiens MTMR14 650 72202.6 6.17 Involved in protein tyrosine phosphatase activity Lipid phosphatase which efficiently dephosphorylates phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns(3,5)P2; inactive toward PtdIns4P, PtdIns(3,4)P2, PtdIns(4,5)P2 and PtdIns(3,4,5)P3 ["None"] ["None"] NM_001077525.2 117938270 MTMR14 Chromosome:3 3p26 MTMR14 HGNC:26190 true 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4134 CDBP04133 Protein phosphatase 1H Q9ULR3 PPM1H_HUMAN true false Enzyme Homo_sapiens PPM1H 514 56447.455 6.588 Involved in catalytic activity NM_020700.1 149944715 PPM1H 12 12q14.1 PPM1H HGNC:18583 true hsa:57460 NP_065751.1:NM_020700.1 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4135 CDBP04134 Protein phosphatase 1J Q5JR12 PPM1J_HUMAN true false Enzyme Homo_sapiens PPM1J 505 54833.76 7.464 Involved in catalytic activity AK093270 193787473 PPM1J 1 1p13.2 PPM1J HGNC:20785 true hsa:333926 NP_005158.5:NM_005167.5 Interacts with UBE2I/UBC9 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4136 CDBP04135 Tyrosine-protein phosphatase non-receptor type 11 Q06124 PTN11_HUMAN true false Enzyme Homo_sapiens PTPN11 597 68010.48 7.293 Involved in phosphatase activity Acts downstream of various receptor and cytoplasmic protein tyrosine kinases to participate in the signal transduction from the cell surface to the nucleus. Dephosphorylates ROCK2 at Tyr-722 resulting in stimulatation of its RhoA binding activity. 2SHP;3B7O;3MOW;3O5X;3TKZ;3TL0 33356177 PTPN11 12 12q24 PTPN11 HGNC:9644 true hsa:5781 NP_002825.3:NM_002834.3;NP_542168.1:NM_080601.1 Widely expressed, with highest levels in heart, brain, and skeletal muscle. Interacts with phosphorylated LIME1 and BCAR3. Interacts with SHB and INPP5D/SHIP1 . Interacts with MILR1 (tyrosine-phosphorylated). Interacts with FLT1 (tyrosine-phosphorylated), FLT3 (tyrosine-phosphorylated), FLT4 (tyrosine-phosphorylated), KIT and GRB2. Interacts with PDGFRA (tyrosine phosphorylated). Interacts (via SH2 domain) with TEK/TIE2 (tyrosine phosphorylated) (By similarity). Interacts with PTPNS1 and CD84. Interacts with phosphorylated SIT1 and MPZL1. Interacts with FCRL3, FCRL4, FCRL6 and ANKHD1. Interacts with KIR2DL1; the interaction is enhanced by ARRB2. Interacts with GAB2. Interacts with TERT; the interaction retains TERT in the nucleus. Interacts with PECAM1 and FER. Interacts with EPHA2 (activated); participates in PTK2/FAK1 dephosphorylation in EPHA2 downstream signaling. Interacts with ROS1; mediates PTPN11 phosphorylation. Interacts with PDGFRB (tyrosine phosphorylated); this interaction increases the PTPN11 phosphatase activity. Interacts with GAREM isoform 1 (tyrosine phosphorylated); the interaction increases MAPK/ERK activity and does not affect the GRB2/SOS complex formation 2020-06-12T23:07:22Z 2020-07-28T02:29:28Z 1 0 0 4137 CDBP04136 Tyrosine-protein phosphatase non-receptor type 12 Q05209 PTN12_HUMAN true false Enzyme Homo_sapiens PTPN12 780 74137.81 5.194 Involved in phosphatase activity Dephosphorylates cellular tyrosine kinases, including PTK2B/PYK2, and thereby regulates signaling via PTK2B/PYK2. NM_002835.3 196114951 PTPN12 7 7q11.23 PTPN12 HGNC:9645 true hsa:5782 NP_001124480.1:NM_001131008.1;NP_001124481.1:NM_001131009.1;NP_002826.3:NM_002835.3 Interacts with TGFB1I1 . Interacts with PSTPIP1. Interacts with PTK2B/PYK2. Interacts with LPXN (By similarity) 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4138 CDBP04137 Tyrosine-protein phosphatase non-receptor type 13 Q12923 PTN13_HUMAN true false Enzyme Homo_sapiens PTPN13 2485 274930.055 6.401 Involved in phosphatase activity Tyrosine phosphatase which regulates negatively FAS-induced apoptosis and NGFR-mediated pro-apoptotic signaling. 1D5G;1Q7X;1WCH;3LNX;3LNY;3PDZ NM_080683.2 18375646 PTPN13 4 4q21.3 PTPN13 HGNC:9646 true hsa:5783 NP_006255.1:NM_006264.2;NP_542414.1:NM_080683.2;NP_542415.1:NM_080684.2;NP_542416.1:NM_080685.2 Present in most tissues with the exception of the liver and skeletal muscle. Most abundant in lung, kidney and fetal brain. Interacts with TRIP6 and TNFRSF6 (Fas receptor) through its second PDZ domain. Interacts with the C-terminal SVP motif of NGFR through its third PDZ domain. Interacts with the LIM domain of PDLIM4 through its second and fourth PDZ domains. Binds PLEKHA1 and PLEKHA2 through its first PDZ domain. Interacts with BRD7 and ARHGAP29. Interacts (via PDZ 3 domain) with PKN2 (via C-terminus) 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4139 CDBP04138 Tyrosine-protein phosphatase non-receptor type 14 Q15678 PTN14_HUMAN true false Enzyme Homo_sapiens PTPN14 1187 135260.15 8.316 Involved in phosphatase activity Protein tyrosine phosphatase which may play a role in the regulation of lymphangiogenesis, cell-cell adhesion, cell-matrix adhesion, cell migration, cell growth and also regulates TGF-beta gene expression, thereby modulating epithelial-mesenchymal transition. Mediates beta-catenin dephosphorylation at adhesion junctions. Acts as a negative regulator of the oncogenic property of YAP, a downstream target of the hippo pathway, in a cell density-dependent manner. May function as a tumor suppressor. 2BZL X82676 809029 PTPN14 1 1q32.2 PTPN14 HGNC:9647 true hsa:5784 NP_005392.2:NM_005401.4 Ubiquitous. Interacts with FLT4; the interaction is enhanced by stimulation with VEGFC. Interacts (via PPxY motifs) with YAP1 (via WW domains); this interaction leads to the cytoplasmic sequestration of YAP1 and inhibits its transcriptional co-activator activity 2020-06-12T23:07:22Z 2020-07-28T02:29:28Z 0 0 1 4140 CDBP04139 Tyrosine-protein phosphatase non-receptor type 18 Q99952 PTN18_HUMAN true false Enzyme Homo_sapiens PTPN18 460 38475.43 8.591 Involved in phosphatase activity Differentially dephosphorylate autophosphorylated tyrosine kinases which are known to be overexpressed in tumor tissues. 2OC3 X79568 1871531 PTPN18 2 2q21.1 PTPN18 HGNC:9649 true hsa:26469 NP_001135842.1:NM_001142370.1;NP_055184.2:NM_014369.3 Expressed in brain, colon and several tumor-derived cell lines. Interacts with PSTPIP1 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4141 CDBP04140 Tyrosine-protein phosphatase non-receptor type 1 P18031 PTN1_HUMAN true false Enzyme Homo_sapiens PTPN1 435 49966.44 6.264 Involved in phosphatase activity Tyrosine-protein phosphatase which acts as a regulator of endoplasmic reticulum unfolded protein response. Mediates dephosphorylation of EIF2AK3/PERK; inactivating the protein kinase activity of EIF2AK3/PERK. May play an important role in CKII- and p60c-src-induced signal transduction cascades. May regulate the EFNA5-EPHA3 signaling pathway which modulates cell reorganization and cell-cell repulsion. 1A5Y;1AAX;1BZC;1BZH;1BZJ;1C83;1C84;1C85;1C86;1C87;1C88;1ECV;1EEN;1EEO;1G1F;1G1G;1G1H;1G7F;1G7G;1GFY;1I57;1JF7;1KAK;1KAV;1L8G;1LQF;1NL9;1NNY;1NO6;1NWE;1NWL;1NZ7;1OEM;1OEO;1OES;1OET;1OEU;1OEV;1ONY;1ONZ;1PA1;1PH0;1PTT;1PTU;1PTV;1PTY;1PXH;1PYN;1Q1M;1Q6J;1Q6M;1Q6N;1Q6P;1Q6S;1Q6T;1QXK;1SUG;1T48;1T49;1T4J;1WAX;1XBO;2AZR;2B07;2B4S;2BGD;2BGE;2CM2;2CM3;2CM7;2CM8;2CMA;2CMB;2CMC;2CNE;2CNF;2CNG;2CNH;2CNI;2F6F;2F6T;2F6V;2F6W;2F6Y;2F6Z;2F70;2F71;2FJM;2FJN;2H4G;2H4K;2HB1;2HNP;2HNQ;2NT7;2NTA;2QBP;2QBQ;2QBR;2QBS;2VEU;2VEV;2VEW;2VEX;2VEY;2ZMM;2ZN7;3A5J;3A5K;3CWE;3D9C;3EAX;3EB1;3EU0;3I7Z;3I80;3QKP;3QKQ;3SME;3ZV2;4I8N M31724 190742 PTPN1 20 20q13.1-q13.2 PTPN1 HGNC:9642 true hsa:5770 NP_002818.1:NM_002827.2 Interacts with EPHA3 (phosphorylated); dephosphorylates EPHA3 and may regulate its trafficking and function 2020-06-12T23:07:22Z 2020-07-28T02:29:28Z 1 0 0 4142 CDBP04141 Tyrosine-protein phosphatase non-receptor type 21 Q16825 PTN21_HUMAN true false Enzyme Homo_sapiens PTPN21 1174 133279.965 7.897 Involved in phosphatase activity X79510 532056 PTPN21 14 14q31.3 PTPN21 HGNC:9651 true hsa:11099 NP_008970.2:NM_007039.3 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4143 CDBP04142 Tyrosine-protein phosphatase non-receptor type 22 Q9Y2R2 PTN22_HUMAN true false Enzyme Homo_sapiens PTPN22 807 88646.45 7.445 Involved in phosphatase activity Acts as negative regulator of T-cell receptor (TCR) signaling by direct dephosphorylation of the Src family kinases LCK and FYN, ITAMs of the TCRz/CD3 complex, as well as ZAP70, VAV, VCP and other key signaling molecules. Associates with and probably dephosphorylates CBL. Dephosphorylates LCK at its activating 'Tyr-394' residue. Dephosphorylates ZAP70 at its activating 'Tyr-493' residue. Dephosphorylates the immune system activator SKAP2. 2P6X;2QCJ;2QCT;3BRH;3H2X;3OLR;3OMH NM_015967.5 224586929 PTPN22 1 1p13.2 PTPN22 HGNC:9652 true hsa:26191 NP_001180360.1:NM_001193431.1;NP_036543.4:NM_012411.4;NP_057051.3:NM_015967.5 Predominantly expressed in lymphoid tissues and cells. Isoform 1 is expressed in thymocytes and both mature B and T-cells. Interacts with CSK. Interacts with LPXN . Interacts with CBL 2020-06-12T23:07:22Z 2020-07-28T02:29:28Z 1 0 0 4144 CDBP04143 Tyrosine-protein phosphatase non-receptor type 2 P17706 PTN2_HUMAN true false Enzyme Homo_sapiens PTPN2 415 48472.94 8.291 Involved in phosphatase activity 1L8K AK292570 158258577 PTPN2 18 18p11.3-p11.2 PTPN2 HGNC:9650 true hsa:5771 NP_002819.2:NM_002828.3;NP_536347.1:NM_080422.2;NP_536348.1:NM_080423.2 Isoform PTPA is probably the major isoform. Isoform PTPB is expressed in T-cells and in placenta. Interacts with RMDN3. Isoform PTPB interacts with TMED9 2020-06-12T23:07:22Z 2020-07-28T02:29:28Z 1 0 0 4145 CDBP04144 Tyrosine-protein phosphatase non-receptor type 3 P26045 PTN3_HUMAN true false Enzyme Homo_sapiens PTPN3 913 98897.235 6.798 Involved in phosphatase activity May act at junctions between the membrane and the cytoskeleton. Possesses tyrosine phosphatase activity. 2B49 NM_002829 223941876 PTPN3 9 9q31 PTPN3 HGNC:9655 true hsa:5774 NP_001138840.1:NM_001145368.1;NP_001138843.1:NM_001145371.1;NP_002820.3:NM_002829.3 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4146 CDBP04145 Tyrosine-protein phosphatase non-receptor type 4 P29074 PTN4_HUMAN true false Enzyme Homo_sapiens PTPN4 926 105910.315 7.451 Involved in phosphatase activity May act at junctions between the membrane and the cytoskeleton. 2CS5;2I75;2VPH;3NFK;3NFL M68941 PTPN4 2 2q14.2 PTPN4 HGNC:9656 true hsa:5775 NP_002821.1:NM_002830.3 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4147 CDBP04146 Tyrosine-protein phosphatase non-receptor type 5 P54829 PTN5_HUMAN true false Enzyme Homo_sapiens PTPN5 565 60034.48 4.841 Involved in phosphatase activity May regulate the activity of several effector molecules involved in synaptic plasticity and neuronal cell survival, including MAPKs, Src family kinases and NMDA receptors. 2BIJ;2BV5;2CJZ NM_006906.1 90652859 PTPN5 11 11p15.1 PTPN5 HGNC:9657 true hsa:84867 NP_001035059.1:NM_001039970.1;NP_008837.1:NM_006906.1;NP_116170.3:NM_032781.3 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4148 CDBP04147 Tyrosine-protein phosphatase non-receptor type 9 P43378 PTN9_HUMAN true false Enzyme Homo_sapiens PTPN9 593 68019.58 8.009 Involved in phosphatase activity Protein-tyrosine phosphatase that could participate in the transfer of hydrophobic ligands or in functions of the Golgi apparatus. 2PA5;4GE2;4GE5;4GE6 M83738 PTPN9 15 15q24.2 PTPN9 HGNC:9661 true hsa:5780 NP_002824.1:NM_002833.2 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4149 CDBP04148 Receptor-type tyrosine-protein phosphatase N2 Q92932 PTPR2_HUMAN true false Enzyme Homo_sapiens PTPRN2 1015 111270.29 5.828 Involved in phosphatase activity Implicated in development of nervous system and pancreatic endocrine cells. 2QEP;4HTI;4HTJ NM_002847.3 194097440 PTPRN2 7 7q36 PTPRN2 HGNC:9677 true hsa:5799 NP_002838.2:NM_002847.3;NP_570857.2:NM_130842.2;NP_570858.2:NM_130843.2 Highest levels in brain and pancreas. Lower levels in trachea, prostate, stomach and spinal chord. 2020-06-12T23:07:22Z 2020-07-28T02:29:28Z 1 0 0 4150 CDBP04149 Receptor-type tyrosine-protein phosphatase beta P23467 PTPRB_HUMAN true false Enzyme Homo_sapiens PTPRB 1997 249141.73 7.739 Involved in phosphatase activity Plays an important role in blood vessel remodeling and angiogenesis. Not necessary for the initial formation of blood vessels, but is essential for their maintenance and remodeling. Can induce dephosphorylation of TEK/TIE2, CDH5/VE-cadherin and KDR/VEGFR-2. Regulates angiopoietin-TIE2 signaling in endothelial cells. Acts as a negative regulator of TIE2, and controls TIE2 driven endothelial cell proliferation, which in turn affects blood vessel remodeling during embryonic development and determines blood vessel size during perinatal growth. Essential for the maintenance of endothelial cell contact integrity and for the adhesive function of VE-cadherin in endothelial cells and this requires the presence of plakoglobin (By similarity). 2AHS;2H02;2H03;2H04;2HC1;2HC2;2I3R;2I3U;2I4E;2I4G;2I4H;2I5X X54131 35788 PTPRB 12 12q15-q21 PTPRB HGNC:9665 true hsa:5787 NP_001103224.1:NM_001109754.2;NP_001193900.1:NM_001206971.1;NP_001193901.1:NM_001206972.1;NP_002828.3:NM_002837.4 Monomer. Interacts with TEK. Interacts via fibronectin type-III 17 domain with CDH5 2020-06-12T23:07:22Z 2020-07-28T02:29:28Z 1 0 0 4151 CDBP04150 Receptor-type tyrosine-protein phosphatase delta P23468 PTPRD_HUMAN true false Enzyme Homo_sapiens PTPRD 1912 169472.32 6.674 Involved in phosphatase activity 1X5Z;2DLH;2YD6;2YD7 L38929 PTPRD 9 9p23-p24.3 PTPRD HGNC:9668 true hsa:5789 NP_001164496.1:NM_001171025.1;NP_002830.1:NM_002839.3;NP_569075.2:NM_130391.3;NP_569076.2:NM_130392.3 Interacts with IL1RAPL1 (via extracellular region); interaction is required for IL1RAPL1-mediated synapse formation . Interacts with PPFIA1, PPFIA2 and PPFIA3 2020-06-12T23:07:22Z 2020-07-28T02:29:29Z 1 0 0 4152 CDBP04151 Receptor-type tyrosine-protein phosphatase epsilon P23469 PTPRE_HUMAN true false Enzyme Homo_sapiens PTPRE 700 80641.165 7.023 Involved in phosphatase activity Isoform 1 plays a critical role in signaling transduction pathways and phosphoprotein network topology in red blood cells. May play a role in osteoclast formation and function (By similarity). Isoform 2 acts as a negative regulator of insulin receptor (IR) signaling in skeletal muscle. Regulates insulin-induced tyrosine phosphorylation of insulin receptor (IR) and insulin receptor substrate 1 (IRS-1), phosphorylation of protein kinase B and glycogen synthase kinase-3 and insulin induced stimulation of glucose uptake (By similarity). Isoform 1 and isoform 2 act as a negative regulator of FceRI-mediated signal transduction leading to cytokine production and degranulation, most likely by acting at the level of SYK to affect downstream events such as phosphorylation of SLP76 and LAT and mobilization of Ca(2+) (By similarity). 2JJD X54134 35792 PTPRE 10 10q26 PTPRE HGNC:9669 true hsa:5791 NP_006495.1:NM_006504.4;NP_569119.1:NM_130435.3 Expressed in giant cell tumor (osteoclastoma rich in multinucleated osteoclastic cells). Monomer. Isoform 2: Homodimer. Can form oligomers. Dimerization is increased by oxidative stress and decreased by EGFR. Isoform 2 interacts with GRB2 2020-06-12T23:07:22Z 2020-07-28T02:29:29Z 1 0 0 4153 CDBP04152 Receptor-type tyrosine-protein phosphatase F P10586 PTPRF_HUMAN true false Enzyme Homo_sapiens PTPRF 1907 212877.35 6.302 Involved in phosphatase activity Possible cell adhesion receptor. It possesses an intrinsic protein tyrosine phosphatase activity (PTPase). The first PTPase domain has enzymatic activity, while the second one seems to affect the substrate specificity of the first one. 1LAR;2DJU;2DN7;2EDX;2EDY;2YD5;2YD8 NM_002840.3 109633041 PTPRF 1 1p34 PTPRF HGNC:9670 true hsa:5792 NP_002831.2:NM_002840.3;NP_569707.2:NM_130440.2 Interacts with GRIP1 . Interacts with PPFIA1, PPFIA2 and PPFIA3. Interacts with INSR 2020-06-12T23:07:22Z 2020-07-28T02:29:29Z 1 0 0 4154 CDBP04153 Receptor-type tyrosine-protein phosphatase gamma P23470 PTPRG_HUMAN true false Enzyme Homo_sapiens PTPRG 1445 162002.3 6.418 Involved in phosphatase activity Possesses tyrosine phosphatase activity. 2H4V;2HY3;2NLK;2PBN;3JXH;3QCB;3QCC;3QCD;3QCE;3QCF;3QCG;3QCH;3QCI;3QCJ;3QCK;3QCL;3QCM;3QCN NM_002841.3 194097398 PTPRG 3 3p21-p14 PTPRG HGNC:9671 true hsa:5793 NP_002832.3:NM_002841.3 Found in a variety of tissues. Monomer; active form. Homodimer; inactive form (Probable) 2020-06-12T23:07:22Z 2020-07-28T02:29:29Z 1 0 0 4155 CDBP04154 Receptor-type tyrosine-protein phosphatase eta Q12913 PTPRJ_HUMAN true false Enzyme Homo_sapiens PTPRJ 1337 57189.34 5.608 Involved in phosphatase activity Tyrosine phosphatase which dephosphorylates or contributes to the dephosphorylation of CTNND1, FLT3, PDGFRB, MET, RET (variant MEN2A), KDR, LYN, SRC, MAPK1, MAPK3, EGFR, TJP1, OCLN, PIK3R1 and PIK3R2. Plays a role in cell adhesion, migration, proliferation and differentiation. Involved in vascular development. Regulator of macrophage adhesion and spreading. Positively affects cell-matrix adhesion. Positive regulator of platelet activation and thrombosis. Negative regulator of cell proliferation. Negative regulator of PDGF-stimulated cell migration; through dephosphorylation of PDGFR. Positive regulator of endothelial cell survival, as well as of VEGF-induced SRC and AKT activation; through KDR dephosphorylation. Negative regulator of EGFR signaling pathway; through EGFR dephosphorylation. Enhances the barrier function of epithelial junctions during reassembly. Negatively regulates T-cell receptor (TCR) signaling. Upon T-cell TCR activation, it is up-regulated and excluded from the immunological synapses, while upon T-cell-antigen presenting cells (APC) disengagement, it is no longer excluded and can dephosphorylate PLCG1 and LAT to down-regulate prolongation of signaling. 2CFV;2DLE;2NZ6 NM_002843.3 148728162 PTPRJ 11 11p11.2 PTPRJ HGNC:9673 true hsa:5795 NP_001091973.1:NM_001098503.1;NP_002834.3:NM_002843.3 Expressed in the promyelocytic cell line HL-60, the granulocyte-macrophage colony-stimulating factor-dependent leukemic cell line F-36P, and the IL3 and erythropoietin-dependent leukemic cell line F-36E. Expressed predominantly in epithelial cells and lymphocytes. Enhanced expression at high cell density. Monomer. Interacts with CTNNB1 (phosphorylated) and JUP (phosphorylated). Interacts with FLT3 (phosphorylated). Interacts with GAB1 and GRB2 2020-06-12T23:07:22Z 2020-07-28T02:29:29Z 1 0 0 4156 CDBP04155 Receptor-type tyrosine-protein phosphatase kappa Q15262 PTPRK_HUMAN true false Enzyme Homo_sapiens PTPRK 1439 163018.915 5.904 Involved in phosphatase activity Regulation of processes involving cell contact and adhesion such as growth control, tumor invasion, and metastasis. Negative regulator of EGFR signaling pathway. Forms complexes with beta-catenin and gamma-catenin/plakoglobin. Beta-catenin may be a substrate for the catalytic activity of PTPRK/PTP-kappa. 2C7S Z70660 1418932 PTPRK 6 6q22.2-q22.3 PTPRK HGNC:9674 true hsa:5796 NP_001129120.1:NM_001135648.1;NP_002835.2:NM_002844.3 High levels in lung, brain and colon; less in liver, pancreas, stomach, kidney, placenta and mammary carcinoma. 2020-06-12T23:07:22Z 2020-07-28T02:29:29Z 1 0 1 4157 CDBP04156 Receptor-type tyrosine-protein phosphatase mu P28827 PTPRM_HUMAN true false Enzyme Homo_sapiens PTPRM 1452 165058.91 6.615 Involved in phosphatase activity Involved in cell-cell adhesion through homophilic interactions. May play a key role in signal transduction and growth control. 1RPM;2C9A;2V5Y X58288 32456 PTPRM 18 18p11.2 PTPRM HGNC:9675 true hsa:5797 NP_001098714.1:NM_001105244.1;NP_002836.3:NM_002845.3 2020-06-12T23:07:22Z 2020-07-28T02:29:29Z 1 0 0 4158 CDBP04157 Receptor-type tyrosine-protein phosphatase O Q16827 PTPRO_HUMAN true false Enzyme Homo_sapiens PTPRO 1216 134939.865 5.955 Involved in phosphatase activity Possesses tyrosine phosphatase activity. Plays a role in regulating the glomerular pressure/filtration rate relationship through an effect on podocyte structure and function (By similarity). 2G59;2GJT Z48541 963059 PTPRO 12 12p13-p12 PTPRO HGNC:9678 true hsa:5800 NP_002839.1:NM_002848.3;NP_109592.1:NM_030667.2;NP_109593.1:NM_030668.2;NP_109594.1:NM_030669.2;NP_109595.1:NM_030670.2;NP_109596.1:NM_030671.2 Glomerulus of kidney. Also detected in brain, lung and placenta. 2020-06-12T23:07:22Z 2020-07-28T02:29:29Z 1 0 0 4159 CDBP04158 Receptor-type tyrosine-protein phosphatase R Q15256 PTPRR_HUMAN true false Enzyme Homo_sapiens PTPRR 657 51045.62 8.009 Involved in phosphatase activity Sequesters mitogen-activated protein kinases (MAPKs) such as MAPK1, MAPK3 and MAPK14 in the cytoplasm in an inactive form. The MAPKs bind to a dephosphorylated kinase interacting motif, phosphorylation of which by the protein kinase A complex releases the MAPKs for activation and translocation into the nucleus (By similarity). 2A8B NM_002849.2 4506325 PTPRR 12 12q15 PTPRR HGNC:9680 true hsa:5801 NP_001193945.1:NM_001207016.1;NP_002840.2:NM_002849.3;NP_570897.2:NM_130846.2 Expressed in brain, placenta, small intestine, stomach, uterus and weakly in the prostate. Isoform alpha has been observed only in the brain. Isoform gamma is expressed in brain, placenta and uterus. Isoform delta is expressed in brain, kidney, placenta, prostate, small intestine and uterus. Interacts with MAPKs 2020-06-12T23:07:22Z 2020-07-28T02:29:29Z 1 0 0 4160 CDBP04159 Receptor-type tyrosine-protein phosphatase S Q13332 PTPRS_HUMAN true false Enzyme Homo_sapiens PTPRS 1948 217039.825 6.46 Involved in phosphatase activity Interacts with LAR-interacting protein LIP.1. 2FH7;2YD2;2YD3;2YD9 NM_002850.3 104487006 PTPRS 19 19p13.3 PTPRS HGNC:9681 true hsa:5802 NP_002841.3:NM_002850.3;NP_570923.2:NM_130853.2;NP_570924.2:NM_130854.2;NP_570925.2:NM_130855.2 Detected in all tissues tested except for placenta and liver. Interacts with PPFIA1, PPFIA2 and PPFIA3 2020-06-12T23:07:22Z 2020-07-28T02:29:29Z 1 0 0 4161 CDBP04160 Receptor-type tyrosine-protein phosphatase T O14522 PTPRT_HUMAN true false Enzyme Homo_sapiens PTPRT 1463 162132.92 6.893 Involved in phosphatase activity May be involved in both signal transduction and cellular adhesion in the CNS. 2OOQ AF043644 6554165 PTPRT 20 20q12-q13 PTPRT HGNC:9682 true hsa:11122 NP_008981.4:NM_007050.5;NP_573400.3:NM_133170.3 Expressed in colon, lung, heart and testis, as well as in fetal and adult brain. Not detected in muscle and peripheral blood leukocytes. 2020-06-12T23:07:22Z 2020-07-28T02:29:29Z 1 0 0 4162 CDBP04161 Receptor-type tyrosine-protein phosphatase U Q92729 PTPRU_HUMAN true false Enzyme Homo_sapiens PTPRU 1446 160793.34 6.861 Involved in phosphatase activity Tyrosine-protein phosphatase which dephosphorylates CTNNB1. Regulates CTNNB1 function both in cell adhesion and signaling. May function in cell proliferation and migration and play a role in the maintenance of epithelial integrity. May play a role in megakaryocytopoiesis. NM_005704.4 110735402 PTPRU 1 1p35.3 PTPRU HGNC:9683 true hsa:10076 NP_001181930.1:NM_001195001.1;NP_005695.3:NM_005704.4;NP_573438.3:NM_133177.3;NP_573439.2:NM_133178.3 High levels in brain, pancreas, and skeletal muscle; less in colon, kidney, liver, stomach, and uterus; not expressed in placenta and spleen. Also detected in heart, prostate, lung, thymus, testis and ovary. Ubiquitously expressed in brain. Expressed by hematopoietic stem cells. Forms homooligomeric complexes which mediate cell homotypic adhesion (Probable). Interacts (via the cytoplasmic juxtamembrane domain) with CTNNB1; may mediate interaction with the cadherin/catenin adhesion complex. Interacts with KIT. May interact with AP3B1 2020-06-12T23:07:22Z 2020-07-28T02:29:29Z 1 0 0 4163 CDBP04162 Receptor-type tyrosine-protein phosphatase zeta P23471 PTPRZ_HUMAN true false Enzyme Homo_sapiens PTPRZ1 2315 163571.6 5.19 Involved in phosphatase activity May be involved in the regulation of specific developmental processes in the CNS. 3JXF;3S97 NM_002851.2 91208428 PTPRZ1 7 7q31.3 PTPRZ1 HGNC:9685 true hsa:5803 NP_001193767.1:NM_001206838.1;NP_001193768.1:NM_001206839.1;NP_002842.2:NM_002851.2 Specifically expressed in the central nervous system, where it is localized in the Purkinje cell layer of the cerebellum, the dentate gyrus, and the subependymal layer of the anterior horn of the lateral ventricle. Developmentally regulated in the brain. The carbonic-anhydrase like domain binds to contactin 2020-06-12T23:07:22Z 2020-07-28T02:29:30Z 1 0 0 4164 CDBP04163 Putative RNA polymerase II subunit A C-terminal domain phosphatase SSU72-like protein 1 A6NK39 S72L1_HUMAN true false Enzyme Homo_sapiens 194 Involved in phosphoprotein phosphatase activity May be involved in the C-terminal domain of RNA polymerase II dephosphorylation, RNA processing and termination (By similarity). true 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4165 CDBP04164 Putative RNA polymerase II subunit A C-terminal domain phosphatase SSU72-like protein 3 A6NG73 S72L3_HUMAN true false Enzyme Homo_sapiens 194 Involved in phosphoprotein phosphatase activity May be involved in the C-terminal domain of RNA polymerase II dephosphorylation, RNA processing and termination (By similarity). true 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4166 CDBP04165 Protein phosphatase Slingshot homolog 1 Q8WYL5 SSH1_HUMAN true false Enzyme Homo_sapiens SSH1 1049 77429.595 6.128 Involved in phosphatase activity Protein phosphatase which regulates actin filament dynamics. Dephosphorylates and activates the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly. Inhibitory phosphorylation of cofilin is mediated by LIMK1, which may also be dephosphorylated and inactivated by this protein. NM_018984.3 239047414 SSH1 12 12q24.11 SSH1 HGNC:30579 true hsa:54434 NP_001154802.1:NM_001161330.1;NP_001154803.1:NM_001161331.1;NP_061857.3:NM_018984.3 Interacts with actin and this stimulates phosphatase activity. Also interacts with LIMK1 and with the 14-3-3 proteins YWHAB, YWHAG, YWHAQ, and YWHAZ. Interaction with 14-3-3 proteins inhibits phosphatase activity and also blocks recruitment to lamellipodia and stimulation by actin 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4167 CDBP04166 Protein phosphatase Slingshot homolog 2 Q76I76 SSH2_HUMAN true false Enzyme Homo_sapiens SSH2 1423 158214.49 5.419 Involved in phosphatase activity Protein phosphatase which regulates actin filament dynamics. Dephosphorylates and activates the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly. Inhibitory phosphorylation of cofilin is mediated by LIMK1, which may also be dephosphorylated and inactivated by this protein. 2NT2 NM_033389.2 37674210 SSH2 17 17q11.2 SSH2 HGNC:30580 true hsa:85464 NP_203747.2:NM_033389.2 Interacts with filamentous actin 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4168 CDBP04167 Protein tyrosine phosphatase type IVA 1 Q93096 TP4A1_HUMAN true false Enzyme Homo_sapiens PTP4A1 173 19814.93 8.969 Involved in phosphatase activity Protein tyrosine phosphatase which stimulates progression from G1 into S phase during mitosis. May play a role in the development and maintenance of differentiating epithelial tissues. Enhances cell proliferation, cell motility and invasive activity, and promotes cancer metastasis. 1RXD;1XM2 U48296 PTP4A1 6 6q12 PTP4A1 HGNC:9634 true hsa:7803 NP_003454.1:NM_003463.3 Expressed in bone marrow, lymph nodes, T lymphocytes, spleen, thymus and tonsil. Overexpressed in tumor cell lines. Homotrimer. Interacts with ATF5 . Interacts with tubulin 2020-06-12T23:07:22Z 2020-07-28T02:29:30Z 0 0 0 4169 CDBP04168 Protein tyrosine phosphatase type IVA 2 Q12974 TP4A2_HUMAN true false Enzyme Homo_sapiens PTP4A2 167 16366.775 8.652 Involved in phosphatase activity Protein tyrosine phosphatase which stimulates progression from G1 into S phase during mitosis. Promotes tumors. Inhibits geranylgeranyl transferase type II activity by blocking the association between RABGGTA and RABGGTB. U14603 PTP4A2 1 1p35 PTP4A2 HGNC:9635 true hsa:8073 NP_001182029.1:NM_001195100.1;NP_001182030.1:NM_001195101.1;NP_536316.1:NM_080391.3 Ubiquitously expressed, with highest levels in skeletal muscle, heart and thymus. Overexpressed in prostate tumor tissue. In contrast to PTP4A1 and PTP4A3, does not interact with tubulin. Interacts with RABGGTB 2020-06-12T23:07:22Z 2020-07-28T02:29:30Z 0 0 0 4170 CDBP04169 Putative tyrosine-protein phosphatase TPTE P56180 TPTE_HUMAN true true Enzyme Homo_sapiens TPTE 551 62440.68 8.452 Involved in protein tyrosine/serine/threonine phosphatase activity Could be involved in signal transduction. AF007118 3549240 TPTE 21 21p11 TPTE HGNC:12023 true hsa:7179 NP_954868.1:NM_199259.2;NP_954869.1:NM_199260.2;NP_954870.2:NM_199261.2 Exclusively expressed in testis. 2020-06-12T23:07:22Z 2020-07-28T02:29:30Z 0 0 0 4171 CDBP04170 Pyruvate kinase Q16715 Q16715_HUMAN true false Enzyme Homo_sapiens 587 63260.1 7.6 Involved in magnesium ion binding ATP + pyruvate = ADP + phosphoenolpyruvate ["None"] ["None"] 1LIU U47654 1230589 HGNC:9020 true 2020-06-12T23:07:22Z 2020-07-28T02:29:30Z 0 1 0 4172 CDBP04171 Putative aspartate aminotransferase, cytoplasmic 2 Q8NHS2 AATC2_HUMAN true false Enzyme Homo_sapiens GOT1L1 421 47304.72 7.011 Involved in transferase activity, transferring nitrogenous groups NM_152413.2 117414139 GOT1L1 8 8p11.23 GOT1L1 HGNC:28487 true hsa:137362 NP_689626.2:NM_152413.2 Pyridoxal phosphate Homodimer 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4173 CDBP04172 5-phosphohydroxy-L-lysine phospho-lyase Q8IUZ5 AT2L2_HUMAN true false Enzyme Homo_sapiens AGXT2L2 450 49710.245 6.763 Involved in transaminase activity Catalyzes the pyridoxal-phosphate-dependent breakdown of 5-phosphohydroxy-L-lysine, converting it to ammonia, inorganic phosphate and 2-aminoadipate semialdehyde. NM_153373.2 24119277 AGXT2L2 5 5q35.3 AGXT2L2 HGNC:28249 true hsa:85007 NP_699204.1:NM_153373.2 Pyridoxal phosphate Homotetramer 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4174 CDBP04173 Glutamate decarboxylase-like protein 1 Q6ZQY3 GADL1_HUMAN true false Enzyme Homo_sapiens GADL1 521 59245.9 6.3 Involved in carboxy-lyase activity ["None"] ["None"] NM_207359.2 197383062 GADL1 Chromosome:3 3p24.1-p23 GADL1 HGNC:27949 true 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4175 CDBP04174 Kynurenine--oxoglutarate transaminase 3 Q6YP21 KAT3_HUMAN true false Enzyme Homo_sapiens CCBL2 454 51399.855 8.188 Involved in transferase activity, transferring nitrogenous groups Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid (KA). May catalyze the beta-elimination of S-conjugates and Se-conjugates of L-(seleno)cysteine, resulting in the cleavage of the C-S or C-Se bond (By similarity). Has transaminase activity towards L-kynurenine, tryptophan, phenylalanine, serine, cysteine, methionine, histidine, glutamine and asparagine with glyoxylate as an amino group acceptor (in vitro). Has lower activity with 2-oxoglutarate as amino group acceptor (in vitro) (By similarity). AY028624 CCBL2 1 1p22.2 CCBL2 HGNC:33238 true hsa:56267 NP_001008661.1:NM_001008661.2;NP_001008662.1:NM_001008662.2 Pyridoxal phosphate Homodimer 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4176 CDBP04175 Molybdenum cofactor sulfurase Q96EN8 MOCOS_HUMAN true false Enzyme Homo_sapiens MOCOS 888 98118.965 6.696 Involved in metabolic process Sulfurates the molybdenum cofactor. Sulfation of molybdenum is essential for xanthine dehydrogenase (XDH) and aldehyde oxidase (ADO) enzymes in which molybdenum cofactor is liganded by 1 oxygen and 1 sulfur atom in active form. In vitro, the C-terminal domain is able to reduce N-hydroxylated prodrugs, such as benzamidoxime. NM_017947.2 157388923 MOCOS 18 18q12 MOCOS HGNC:18234 true hsa:55034 NP_060417.2:NM_017947.2 Pyridoxal phosphate 2020-06-12T23:07:22Z 2020-07-28T02:29:30Z 0 1 0 4177 CDBP04176 Pyridoxal-dependent decarboxylase domain-containing protein 1 Q6P996 PDXD1_HUMAN true false Enzyme Homo_sapiens PDXDC1 788 86706.1 5.05 Involved in carboxy-lyase activity ["None"] ["None"] NM_015027.2 190341074 PDXDC1 Chromosome:1 16p13.11 PDXDC1 HGNC:28995 true 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4178 CDBP04177 Pyridoxal-dependent decarboxylase domain-containing protein 2 Q6P474 PDXD2_HUMAN true false Enzyme Homo_sapiens PDXDC2 469 51809.5 5.81 Involved in carboxy-lyase activity ["None"] ["None"] AK292860 158259181 PDXDC2 Chromosome:1 16q22.1 PDXDC2 HGNC:27559 true 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4179 CDBP04178 Serine dehydratase-like Q96GA7 SDSL_HUMAN true false Enzyme Homo_sapiens SDSL 329 34674.01 6.883 Involved in catalytic activity Has low serine dehydratase and threonine dehydratase activity. 2RKB AF134473 SDSL 12 12q24.13 SDSL HGNC:30404 true hsa:113675 NP_612441.1:NM_138432.2 Pyridoxal phosphate Homodimer (Probable) 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4180 CDBP04179 O-phosphoseryl-tRNA(Sec) selenium transferase Q9HD40 SPCS_HUMAN true false Enzyme Homo_sapiens SEPSECS 501 55725.69 8.047 Involved in catalytic activity Converts O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec) required for selenoprotein biosynthesis. 3HL2 NM_016955.3 267844904 SEPSECS 4 4p15.2 SEPSECS HGNC:30605 true hsa:51091 NP_058651.3:NM_016955.3 Primarily expressed in liver, pancreas, kidney and lung. Overexpressed in PHA-stimulated T-cells. Pyridoxal phosphate Homotetramer formed by a catalytic dimer and a non-catalytic dimer serving as a binding platform that orients tRNASec for catalysis. Each tetramer binds the CCA ends of two tRNAs which point to the active sites of the catalytic dimer 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4181 CDBP04180 Serine palmitoyltransferase 3 Q9NUV7 SPTC3_HUMAN true false Enzyme Homo_sapiens SPTLC3 552 62049.035 8.773 Involved in transferase activity Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, while the SPTLC1-SPTLC3-SPTSSB has the ability to use a broader range of acyl-CoAs without apparent preference. NM_018327.2 119220554 SPTLC3 20 20p12.1 SPTLC3 HGNC:16253 true hsa:55304 NP_060797.2:NM_018327.2 Expressed in most tissues, except peripheral blood cells and bone marrow, with highest levels in heart, kidney, liver, uterus and skin. Pyridoxal phosphate Heterodimer with SPTLC1. Component of the serine palmitoyltransferase (SPT) complex, composed of LCB1/SPTLC1, LCB2 (SPTLC2 or SPTLC3) and ssPT (SPTSSA and SPTSSB) 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4182 CDBP04181 Serine racemase Q9GZT4 SRR_HUMAN true false Enzyme Homo_sapiens SRR 340 36565.905 6.534 Involved in catalytic activity Catalyzes the synthesis of D-serine from L-serine. D-serine is a key coagonist with glutamate at NMDA receptors. Has dehydratase activity towards both L-serine and D-serine. 3L6B;3L6R AF169974 SRR 17 17p13 SRR HGNC:14398 true hsa:63826 NP_068766.1:NM_021947.1 Brain: expressed at high levels in hippocampus and corpus callosum, intermediate levels in substantia nigra and caudate, and low levels in amygdala, thalamus, and subthalamic nuclei. Expressed in heart, skeletal muscle, kidney and liver. Pyridoxal phosphate Homodimer 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4183 CDBP04182 Threonine synthase-like 2 Q86YJ6 THNS2_HUMAN true false Enzyme Homo_sapiens THNSL2 484 54187.6 6.41 Involved in catalytic activity Acts as a catabolic phospho-lyase on both gamma- and beta-phosphorylated substrates. Degrades O-phospho-threonine (PThr) to alpha-ketobutyrate, ammonia and phosphate ["None"] ["None"] NM_018271.3 149193323 THNSL2 Chromosome:2 2p11.2 THNSL2 HGNC:25602 true 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4184 CDBP04183 Serine hydroxymethyltransferase A8MYA6 A8MYA6_HUMAN true false Enzyme Homo_sapiens SHMT1 446 48998.5 7.01 Involved in catalytic activity Interconversion of serine and glycine ["None"] ["None"] NM_004169 22547186 SHMT1 Chromosome:1 17p11.2 SHMT1 HGNC:10850 true 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4185 CDBP04184 Aspartate aminotransferase Q2TU84 Q2TU84_HUMAN true false Enzyme Homo_sapiens GIG18 413 46319.2 6.8 Involved in transferase activity, transferring nitrogenous groups L-aspartate + 2-oxoglutarate = oxaloacetate + L-glutamate ["None"] ["None"] 1AJS AY513279 46981967 GIG18 GIG18 HGNC:4432 true 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4186 CDBP04185 GAD1 protein Q49AK1 Q49AK1_HUMAN true false Enzyme Homo_sapiens GAD1 425 47439.6 7.3 Involved in carboxy-lyase activity ["None"] ["None"] BC036552 71297135 GAD1 Chromosome:2 2q31 GAD1 HGNC:4092 true 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4187 CDBP04186 Dopa decarboxylase (Aromatic L-amino acid decarboxylase) Q53Y41 Q53Y41_HUMAN true false Enzyme Homo_sapiens DDC 480 53893.8 7.21 Involved in carboxy-lyase activity ["None"] ["None"] 1JS3 BT007009 30582857 DDC Chromosome:7 7p12.2 DDC HGNC:2719 true 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4188 CDBP04187 Phosphorylase Q59GM9 Q59GM9_HUMAN true false Enzyme Homo_sapiens 865 98828.6 6.95 Involved in phosphorylase activity Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties ["None"] ["None"] AB209080 62087740 HGNC:9723 true 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4189 CDBP04188 Aminolevulinate, delta-, synthase 1, isoform CRA_a Q5JAM2 Q5JAM2_HUMAN true false Enzyme Homo_sapiens ALAS1 640 70580.3 8.57 Involved in 5-aminolevulinate synthase activity ["None"] ["None"] AY260745 ALAS1 Chromosome:3 3p21.1 ALAS1 HGNC:396 true 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4190 CDBP04189 Aminolevulinate, delta-, synthase 2 Q5JZF5 Q5JZF5_HUMAN true false Enzyme Homo_sapiens ALAS2 574 63486.7 8.52 Involved in 5-aminolevulinate synthase activity ["None"] ["None"] AL020991 220732257 ALAS2 ALAS2 HGNC:397 true 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4191 CDBP04190 Glutamate decarboxylase 2 (Pancreatic islets and brain, 65kDa) Q5VZ29 Q5VZ29_HUMAN true false Enzyme Homo_sapiens GAD2 129 14754.8 4.8 Involved in carboxy-lyase activity ["None"] ["None"] AL162503 55662654 GAD2 Chromosome:1 10p11.23 GAD2 HGNC:4093 true 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4192 CDBP04191 Putative L-Dopa decarboxylase Q5W5T9 Q5W5T9_HUMAN true false Enzyme Homo_sapiens DDC 338 37085.4 5.41 Involved in carboxy-lyase activity ["None"] ["None"] 1JS3 AJ310724 54969713 DDC Chromosome:7 7p12.2 DDC HGNC:2719 true 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4193 CDBP04192 DDC protein Q6IBS8 Q6IBS8_HUMAN true false Enzyme Homo_sapiens DDC 480 53879.7 7.21 Involved in carboxy-lyase activity ["None"] ["None"] 1JS3 CR456724 48145565 DDC Chromosome:7 7p12.2 DDC HGNC:2719 true 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4194 CDBP04193 CSAD protein Q86V02 Q86V02_HUMAN true false Enzyme Homo_sapiens CSAD 582 64252.3 7.5 Involved in carboxy-lyase activity ["None"] ["None"] BC052249 30354461 CSAD Chromosome:1 12q13.11-q14.3 CSAD HGNC:18966 true 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4195 CDBP04194 PDXDC1 protein Q86XE2 Q86XE2_HUMAN true false Enzyme Homo_sapiens PDXDC1 498 54981.9 6.64 Involved in carboxy-lyase activity ["None"] ["None"] BC045554 71052052 PDXDC1 Chromosome:1 16p13.11 PDXDC1 HGNC:28995 true 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4196 CDBP04195 Glutamate decarboxylase 1 (Brain, 67kDa) Q8IVA8 Q8IVA8_HUMAN true false Enzyme Homo_sapiens GAD1 594 66916.0 7.48 Involved in carboxy-lyase activity ["None"] ["None"] BC037780 23138819 GAD1 Chromosome:2 2q31 GAD1 HGNC:4092 true 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4197 CDBP04196 P-selectin cytoplasmic tail-associated protein (PCAP) Q96JQ3 Q96JQ3_HUMAN true false Enzyme Homo_sapiens pcap 260 29222.5 6.71 Involved in carboxy-lyase activity ["None"] ["None"] AB044561 14495153 pcap Chromosome:1 1q42.2-q43 pcap HGNC:18966 true 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4198 CDBP04197 Glutamic acid decarboxylase Q9UGI5 Q9UGI5_HUMAN true false Enzyme Homo_sapiens GAD65 419 47343.7 8.44 Involved in carboxy-lyase activity ["None"] ["None"] AJ251501 6562440 GAD65 GAD65 HGNC:4093 true 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4199 CDBP04198 Cysteine sulfinic acid decarboxylase, isoform CRA_c Q9Y602 Q9Y602_HUMAN true false Enzyme Homo_sapiens CSAD 267 30263.8 9.85 Involved in carboxy-lyase activity ["None"] ["None"] AF116545 4894556 CSAD Chromosome:1 12q13.11-q14.3 true 2020-06-12T23:07:22Z 2020-06-12T23:07:22Z 0 0 0 4200 CDBP04199 Histone-lysine N-methyltransferase ASH1L Q9NR48 ASH1L_HUMAN true false Enzyme Homo_sapiens ASH1L 2969 332207.495 9.392 Involved in DNA binding Histone methyltransferase specifically methylating 'Lys-36' of histone H3 (H3K36me). 3MQM;3OPE AF257305 7739725 ASH1L 1 1q22 ASH1L HGNC:19088 true hsa:55870 NP_060959.2:NM_018489.2 Widely expressed, with highest level in brain, heart and kidney. 2020-06-12T23:07:22Z 2020-07-28T02:29:32Z 0 1 1 4201 CDBP04200 N-acetylserotonin O-methyltransferase-like protein O95671 ASML_HUMAN true false Enzyme Homo_sapiens ASMTL 621 68856.1 5.98 Involved in O-methyltransferase activity Unknown. The presence of the putative catalytic domain of S-adenosyl-L-methionine binding argues for a methyltransferase activity ["None"] ["None"] NM_004192.3 117553627 ASMTL ASMTL HGNC:751 true 2020-06-12T23:07:22Z 2020-07-28T02:29:32Z 0 0 0 4202 CDBP04201 Histone-arginine methyltransferase CARM1 Q86X55 CARM1_HUMAN true false Enzyme Homo_sapiens CARM1 608 65853.185 6.733 Involved in pathogenesis Methylates (mono- and asymmetric dimethylation) the guanidino nitrogens of arginyl residues in several proteins involved in DNA packaging, transcription regulation, pre-mRNA splicing, and mRNA stability. Recruited to promoters upon gene activation together with histone acetyltransferases from EP300/P300 and p160 families, methylates histone H3 at 'Arg-17' (H3R17me), forming mainly asymmetric dimethylarginine (H3R17me2a), leading to activate transcription via chromatin remodeling. During nuclear hormone receptor activation and TCF7L2/TCF4 activation, acts synergically with EP300/P300 and either one of the p160 histone acetyltransferases NCOA1/SRC1, NCOA2/GRIP1 and NCOA3/ACTR or CTNNB1/beta-catenin to activate transcription. During myogenic transcriptional activation, acts together with NCOA3/ACTR as a coactivator for MEF2C. During monocyte inflammatory stimulation, acts together with EP300/P300 as a coactivator for NF-kappa-B. Acts as coactivator for PPARG, promotes adipocyte differentiation and the accumulation of brown fat tissue. Plays a role in the regulation of pre-mRNA alternative splicing by methylation of splicing factors. Also seems to be involved in p53/TP53 transcriptional activation. Methylates EP300/P300, both at 'Arg-2142', which may loosen its interaction with NCOA2/GRIP1, and at 'Arg-580' and 'Arg-604' in the KIX domain, which impairs its interaction with CREB and inhibits CREB-dependent transcriptional activation. Also methylates arginine residues in RNA-binding proteins PABPC1, ELAVL1 and ELAV4, which may affect their mRNA-stabilizing properties and the half-life of their target mRNAs. 2Y1W;2Y1X NM_199141.1 40288288 CARM1 19 19p13.2 CARM1 HGNC:23393 true hsa:10498 NP_954592.1:NM_199141.1 Overexpressed in prostate adenocarcinomas and high-grade prostatic intraepithelial neoplasia. Homodimer (Probable). Interacts with the C-terminus of NCOA2/GRIP1, NCO3/ACTR and NCOA1/SRC1. Part of a complex consisting of CARM1, EP300/P300 and NCOA2/GRIP1. Interacts with FLII, TP53, myogenic factor MEF2, EP300/P300, TRIM24, CREBBP and CTNNB1. Identified in a complex containing CARM1, TRIM24 and NCOA2/GRIP1. Interacts with NCOA3/SRC3. Interacts with SNRPC . Interacts with NR1H4. Interacts with RELA. Interacts with HTLV-1 Tax-1 2020-06-12T23:07:22Z 2020-07-28T02:29:32Z 1 0 1 4203 CDBP04202 CDK5 regulatory subunit-associated protein 1-like 1 Q5VV42 CDKAL_HUMAN false false Enzyme Homo_sapiens CDKAL1 579 65111.0 7.51 Involved in catalytic activity ["None"] ["556-578"] AK000349 7020375 CDKAL1 Chromosome:6 6p22.3 CDKAL1 HGNC:21050 true 2020-06-12T23:07:22Z 2020-07-28T02:34:13Z 0 0 0 4204 CDBP04203 CDK5 regulatory subunit-associated protein 1 Q96SZ6 CK5P1_HUMAN false false Enzyme Homo_sapiens CDK5RAP1 601 67687.9 8.28 Involved in catalytic activity Specifically inhibits CDK5 activation by CDK5R1 ["None"] ["None"] AL355392 56205140 CDK5RAP1 Chromosome:2 20pter-q11.23 CDK5RAP1 HGNC:15880 true 2020-06-12T23:07:22Z 2020-07-28T02:34:13Z 0 0 0 4205 CDBP04204 Elongator complex protein 3 Q9H9T3 ELP3_HUMAN false false Enzyme Homo_sapiens ELP3 547 62258.44 8.876 Involved in N-acetyltransferase activity Catalytic histone acetyltransferase subunit of the RNA polymerase II elongator complex, which is a component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. Elongator may play a role in chromatin remodeling and is involved in acetylation of histones H3 and probably H4. May also have a methyltransferase activity. Involved in cell migration. NM_018091.5 23510283 ELP3 8 8p21.1 ELP3 HGNC:20696 true hsa:55140 NP_060561.3:NM_018091.5 4Fe-4S cluster. The cluster is coordinated with 3 cysteines and an exchangeable S-adenosyl-L-methionine Component of the RNA polymerase II elongator complex (Elongator), which consists of IKBKAP/ELP1, STIP1/ELP2, ELP3, ELP4, ELP5 and ELP6. IKBKAP/ELP1, STIP1/ELP2 and ELP3 form the Elongator core complex. Elongator associates with the C-terminal domain (CTD) of Pol II largest subunit. Interacts with IKBKAP/ELP1 2020-06-12T23:07:22Z 2020-07-28T02:34:13Z 0 1 1 4206 CDBP04205 Histone-lysine N-methyltransferase EZH2 Q15910 EZH2_HUMAN true false Enzyme Homo_sapiens EZH2 746 85362.435 7.015 Involved in DNA binding Polycomb group (PcG) protein. Catalytic subunit of the PRC2/EED-EZH2 complex, which methylates 'Lys-9' (H3K9me) and 'Lys-27' (H3K27me) of histone H3, leading to transcriptional repression of the affected target gene. Able to mono-, di- and trimethylate 'Lys-27' of histone H3 to form H3K27me1, H3K27me2 and H3K27me3, respectively. Compared to EZH2-containing complexes, it is more abundant in embryonic stem cells and plays a major role in forming H3K27me3, which is required for embryonic stem cell identity and proper differentiation. The PRC2/EED-EZH2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two epigenetic repression systems. Genes repressed by the PRC2/EED-EZH2 complex include HOXC8, HOXA9, MYT1, CDKN2A and retinoic acid target genes. EZH2 can also methylate non-histone proteins such as the transcription factor GATA4. 2C6V U61145 1575349 EZH2 7 7q35-q36 EZH2 HGNC:3527 true hsa:2146 NP_001190176.1:NM_001203247.1;NP_001190177.1:NM_001203248.1;NP_001190178.1:NM_001203249.1;NP_004447.2:NM_004456.4;NP_694543.1:NM_152998.2 Expressed in many tissues. Overexpressed in numerous tumor types including carcinomas of the breast, colon, larynx, lymphoma and testis. Binds ATRX via the SET domain (Probable). Component of the PRC2/EED-EZH2 complex, which includes EED, EZH2, SUZ12, RBBP4 and RBBP7 and possibly AEBP2. The minimum components required for methyltransferase activity of the PRC2/EED-EZH2 complex are EED, EZH2 and SUZ12. The PRC2 complex may also interact with DNMT1, DNMT3A, DNMT3B and PHF1 via the EZH2 subunit and with SIRT1 via the SUZ12 subunit. Interacts with HDAC1 and HDAC2. Interacts with PRAME 2020-06-12T23:07:22Z 2020-07-28T02:29:32Z 1 0 1 4207 CDBP04206 rRNA/tRNA 2'-O-methyltransferase fibrillarin-like protein 1 A6NHQ2 FBLL1_HUMAN true false Enzyme Homo_sapiens FBLL1 333 34675.1 10.95 Involved in RNA binding Involved in pre-rRNA processing. Utilizes the methyl donor S-adenosyl-L-methionine to catalyze the site-specific 2'- hydroxyl methylation of ribose moieties in pre-ribosomal RNA ["None"] ["None"] FBLL1 Chromosome:5 5q34 FBLL1 HGNC:35458 true 2020-06-12T23:07:22Z 2020-07-28T02:29:32Z 0 0 0 4208 CDBP04207 Leucine carboxyl methyltransferase 2 O60294 LCMT2_HUMAN true false Enzyme Homo_sapiens LCMT2 686 75601.1 6.71 Involved in methyltransferase activity Probable S-adenosyl-L-methionine-dependent methyltransferase that acts as a component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA. May methylate the carboxyl group of leucine residues to form alpha- leucine ester residues ["None"] ["None"] NM_014793.3 25188199 LCMT2 Chromosome:1 15q15.3 LCMT2 HGNC:17558 true 2020-06-12T23:07:22Z 2020-07-28T02:29:32Z 0 0 0 4209 CDBP04208 mRNA cap guanine-N7 methyltransferase O43148 MCES_HUMAN true false Enzyme Homo_sapiens RNMT 476 54843.655 6.614 Involved in mRNA capping mRNA-capping methyltransferase that methylates the N7 position of the added guanosine to the 5'-cap structure of mRNAs. Binds RNA containing 5'-terminal GpppC. 3BGV;3EPP AB007858 2662077 RNMT 18 18p11.21 RNMT HGNC:10075 true hsa:8731 NP_003790.1:NM_003799.1 Widely expressed. Interacts with importin alpha, leading to stimulate both RNA-binding and methyltransferase activity. Interaction with importin alpha and beta is required for its nuclear localization, importin beta dissociating in response to RanGTP, allowing RNMT-importin alpha to bind RNA substrates. Interacts with elongating form of polymerase II and RNGTT. Interacts with RAM/FAM103A1, the interaction significantly enhances RNA-binding and cap methyltransferase activity 2020-06-12T23:07:22Z 2020-07-28T02:29:32Z 0 0 1 4210 CDBP04209 Probable S-adenosyl-L-methionine-dependent methyltransferase METT5D1 A6NJ78 ME5D1_HUMAN true false Enzyme Homo_sapiens METT5D1 407 46120.6 8.85 Involved in methyltransferase activity Probable S-adenosyl-L-methionine-dependent methyltransferase ["None"] ["None"] NM_001113528.1 165377209 METT5D1 Chromosome:1 11p14.1 METT5D1 HGNC:26606 true 2020-06-12T23:07:22Z 2020-07-28T02:29:32Z 0 0 0 4211 CDBP04210 7SK snRNA methylphosphate capping enzyme Q7L2J0 MEPCE_HUMAN false false Enzyme Homo_sapiens MEPCE 689 74354.7 10.01 Involved in methyltransferase activity S-adenosyl-L-methionine-dependent methyltransferase that adds a methylphosphate cap at the 5'-end of 7SK snRNA, leading to stabilize it ["None"] ["None"] NM_019606.5 47271406 MEPCE Chromosome:7 7q22.1 MEPCE HGNC:20247 true 2020-06-12T23:07:22Z 2020-07-28T02:34:13Z 0 0 0 4212 CDBP04211 Histone-lysine N-methyltransferase MLL2 O14686 MLL2_HUMAN true false Enzyme Homo_sapiens MLL2 5262 593384.62 5.582 Involved in DNA binding Histone methyltransferase. Methylates 'Lys-4' of histone H3 (H3K4me). H3K4me represents a specific tag for epigenetic transcriptional activation. Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription. 3UVK;4ERQ AF010403 2358285 MLL2 12 12q13.12 MLL2 HGNC:7133 true hsa:8085 NP_003473.3:NM_003482.3 Expressed in most adult tissues, including a variety of hematoipoietic cells, with the exception of the liver. Component of the MLL2/3 complex (also named ASCOM complex), at least composed of MLL2/ALR or MLL3, ASH2L, RBBP5, WDR5, NCOA6, DPY30, KDM6A, PAXIP1/PTIP, PAGR1 and alpha- and beta-tubulin. Interacts with ESR1; interaction is direct 2020-06-12T23:07:22Z 2020-07-28T02:29:32Z 1 1 1 4213 CDBP04212 Histone-lysine N-methyltransferase MLL4 Q9UMN6 MLL4_HUMAN true false Enzyme Homo_sapiens WBP7 2715 293512.14 8.218 Involved in DNA binding Histone methyltransferase. Methylates 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Plays a central role in beta-globin locus transcription regulation by being recruited by NFE2. Plays an important role in controlling bulk H3K4me during oocyte growth and preimplantation development. Required during the transcriptionally active period of oocyte growth for the establishment and/or maintenance of bulk H3K4 trimethylation (H3K4me3), global transcriptional silencing that preceeds resumption of meiosis, oocyte survival and normal zygotic genome activation. 3UVM;4ERZ NM_014727.1 7662046 WBP7 19 19q13.1 true hsa:9757 NP_055542.1:NM_014727.1 Widely expressed. Highest levels in testis. Also found in brain, bone marrow, heart, muscle, kidney, placenta, spleen, thymus, prostate, ovary, intestine, colon, peripheral blood lymphocytes and pancreas. Often amplified in pancreatic carcinomas. Component of the menin-associated histone methyltransferase complex, at least composed of MLL4/WBP7, ASH2L, RBBP5, WDR5, DPY30, MEN1; the complex interacts with POLR2A and POLR2B via MEN1. Interacts with NFE2. Interacts with KDM6B 2020-06-12T23:07:23Z 2020-07-28T02:29:33Z 0 1 1 4214 CDBP04213 Histone-lysine N-methyltransferase MLL5 Q8IZD2 MLL5_HUMAN true false Enzyme Homo_sapiens MLL5 1858 204963.565 7.601 Involved in zinc ion binding Histone methyltransferase that specifically mono- and dimethylates 'Lys-4' of histone H3 (H3K4me1 and H3K4me2). H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Key regulator of hematopoiesis involved in terminal myeloid differentiation and in the regulation of hematopoietic stem cell (HSCs) self-renewal by a mechanism that involves DNA methylation. Plays an essential role in retinoic-acid-induced granulopoiesis by acting as a coactivator of RAR-alpha (RARA) in target gene promoters. Also acts as an important cell cycle regulator, participating in cell cycle regulatory network machinery at multiple cell cycle stages. Required to suppress inappropriate expression of S-phase-promoting genes and maintain expression of determination genes in quiescent cells. Overexpression inhibits cell cycle progression, while knockdown induces cell cycle arrest at both the G1 and G2/M phases. 2LV9 NM_018682.3 91199543 MLL5 7 7q22.1 MLL5 HGNC:18541 true hsa:55904 NP_061152.3:NM_018682.3;NP_891847.1:NM_182931.2 Widely expressed in both adult and fetal tissues. Highest levels of expression observed in fetal thymus and kidney and in adult hematopoietic tissues, jejunum and cerebellum. Component of the MLL5-L complex, at least composed of MLL5, STK38, PPP1CA, PPP1CB, PPP1CC, HCFC1, ACTB and OGT. Interacts with RARA 2020-06-12T23:07:23Z 2020-07-28T02:29:33Z 1 1 1 4215 CDBP04214 Histone-lysine N-methyltransferase NSD2 O96028 NSD2_HUMAN true false Enzyme Homo_sapiens WHSC1 1365 152257.02 8.685 Involved in histone-lysine N-methyltransferase activity Histone methyltransferase with histone H3 'Lys-27' (H3K27me) methyltransferase activity. Isoform RE-IIBP may act as a transcription regulator that binds DNA and suppresses IL5 transcription through HDAC recruitment. NM_001042424.2 109633019 WHSC1 4 4p16.3 WHSC1 HGNC:12766 true hsa:7468 NP_001035889.1:NM_001042424.2;NP_015627.1:NM_007331.1;NP_579877.1:NM_133330.2;NP_579878.1:NM_133331.2;NP_579889.1:NM_133334.2;NP_579890.1:NM_133335.3 Widely expressed. 2020-06-12T23:07:23Z 2020-07-28T02:29:33Z 0 1 1 4216 CDBP04215 Histone-lysine N-methyltransferase NSD3 Q9BZ95 NSD3_HUMAN true false Enzyme Homo_sapiens WHSC1L1 1437 72620.72 9.072 Involved in histone-lysine N-methyltransferase activity Histone methyltransferase. Preferentially methylates 'Lys-4' and 'Lys-27' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation, while 'Lys-27' is a mark for transcriptional repression. 2DAQ;4GND;4GNE;4GNF;4GNG NM_023034.1 13699811 WHSC1L1 8 8p11.2 WHSC1L1 HGNC:12767 true hsa:54904 NP_060248.2:NM_017778.2;NP_075447.1:NM_023034.1 Highly expressed in brain, heart and skeletal muscle. Expressed at lower level in liver and lung. 2020-06-12T23:07:23Z 2020-07-28T02:29:33Z 0 1 1 4217 CDBP04216 Putative methyltransferase NSUN5C Q63ZY6 NSN5C_HUMAN true false Enzyme Homo_sapiens NSUN5P2 315 34346.3 8.77 Translation, ribosomal structure and biogenesis May have S-adenosyl-L-methionine-dependent methyl- transferase activity (Potential) ["None"] ["None"] AF420250 16226075 NSUN5P2 Chromosome:7 7q11.23 NSUN5P2 HGNC:16609 true 2020-06-12T23:07:23Z 2020-07-28T02:29:33Z 0 0 0 4218 CDBP04217 Putative methyltransferase NSUN3 Q9H649 NSUN3_HUMAN true false Enzyme Homo_sapiens NSUN3 340 38244.0 9.1 Translation, ribosomal structure and biogenesis May have S-adenosyl-L-methionine-dependent methyl- transferase activity (Potential) ["None"] ["None"] NM_022072.3 11545785 NSUN3 Chromosome:3 3q11.1 NSUN3 HGNC:26208 true 2020-06-12T23:07:23Z 2020-07-28T02:29:33Z 0 0 0 4219 CDBP04218 Putative methyltransferase NSUN4 Q96CB9 NSUN4_HUMAN true false Enzyme Homo_sapiens NSUN4 384 43088.2 8.26 Translation, ribosomal structure and biogenesis May have S-adenosyl-L-methionine-dependent methyl- transferase activity (Potential) ["None"] ["None"] NM_199044.2 40316918 NSUN4 Chromosome:1 1p34 NSUN4 HGNC:31802 true 2020-06-12T23:07:23Z 2020-07-28T02:29:33Z 0 0 0 4220 CDBP04219 Putative methyltransferase NSUN5 Q96P11 NSUN5_HUMAN true false Enzyme Homo_sapiens NSUN5 429 46691.2 8.73 Translation, ribosomal structure and biogenesis May have S-adenosyl-L-methionine-dependent methyl- transferase activity (Potential) ["None"] ["None"] AC073841 37674385 NSUN5 Chromosome:7 7q11.23 NSUN5 HGNC:16385 true 2020-06-12T23:07:23Z 2020-07-28T02:29:33Z 0 0 0 4221 CDBP04220 Putative methyltransferase NSUN6 Q8TEA1 NSUN6_HUMAN true false Enzyme Homo_sapiens NSUN6 469 51769.8 8.05 Involved in RNA binding May have S-adenosyl-L-methionine-dependent methyl- transferase activity (Potential) ["None"] ["None"] AK074323 18676896 NSUN6 Chromosome:1 10p12.31 NSUN6 HGNC:23529 true 2020-06-12T23:07:23Z 2020-07-28T02:29:33Z 0 0 0 4222 CDBP04221 Putative methyltransferase NSUN7 Q8NE18 NSUN7_HUMAN true false Enzyme Homo_sapiens NSUN7 718 81022.7 9.04 Translation, ribosomal structure and biogenesis May have S-adenosyl-L-methionine-dependent methyl- transferase activity (Potential) ["None"] ["None"] NM_024677 187828635 NSUN7 Chromosome:4 4p14 NSUN7 HGNC:25857 true 2020-06-12T23:07:23Z 2020-07-28T02:29:33Z 0 0 0 4223 CDBP04222 Putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase Q9UET6 RRMJ1_HUMAN true false Enzyme Homo_sapiens FTSJ1 329 36078.76 5.695 Involved in methyltransferase activity Methylates the 2'-O-ribose of nucleotides at positions 32 and 34 of the tRNA anticodon loop of substrate tRNAs (By similarity). NM_012280.2 7110661 FTSJ1 X Xp11.23 FTSJ1 HGNC:13254 true hsa:24140 NP_036412.1:NM_012280.2;NP_803183.1:NM_177434.1;NP_803188.1:NM_177439.1 Found in fetal brain, lung, liver and kidney. In the adult brain, expressed in amygdala, caudate nucleus, corpus callosum, hippocampus and thalamus. 2020-06-12T23:07:23Z 2020-07-28T02:29:33Z 0 0 0 4224 CDBP04223 Putative ribosomal RNA methyltransferase 2 Q9UI43 RRMJ2_HUMAN true false Enzyme Homo_sapiens FTSJ2 246 27423.365 9.5 Involved in methyltransferase activity Probable methyltransferase. 2NYU AF093415 6652820 FTSJ2 7 7p22 FTSJ2 HGNC:16352 true hsa:29960 NP_037525.1:NM_013393.1 Widely expressed, with highest expression in muscle, placenta, and heart. 2020-06-12T23:07:23Z 2020-07-28T02:29:33Z 0 0 0 4225 CDBP04224 pre-rRNA processing protein FTSJ3 Q8IY81 RRMJ3_HUMAN false false Enzyme Homo_sapiens FTSJ3 847 96557.73 8.393 Involved in methyltransferase activity Probable methyltransferase involved in the processing of the 34S pre-rRNA to 18S rRNA and in 40S ribosomal subunit formation. NM_017647.3 194097365 FTSJ3 17 17q23.3 FTSJ3 HGNC:17136 true hsa:117246 NP_060117.3:NM_017647.3 Interacts with NIP7 2020-06-12T23:07:23Z 2020-07-28T02:34:13Z 0 0 0 4226 CDBP04225 Radical S-adenosyl methionine domain-containing protein 1, mitochondrial Q9HA92 RSAD1_HUMAN false false Enzyme Homo_sapiens RSAD1 442 48713.1 7.84 Involved in coproporphyrinogen oxidase activity May be involved in porphyrin cofactor biosynthesis ["None"] ["None"] AK002026 RSAD1 Chromosome:1 17q21.33 RSAD1 HGNC:25634 true 2020-06-12T23:07:23Z 2020-07-28T02:34:13Z 0 0 0 4227 CDBP04226 Histone-lysine N-methyltransferase SETD1B Q9UPS6 SET1B_HUMAN true false Enzyme Homo_sapiens SETD1B 1923 208729.73 4.954 Involved in nucleotide binding Histone methyltransferase that specifically methylates 'Lys-4' of histone H3, when part of the SET1 histone methyltransferase (HMT) complex, but not if the neighboring 'Lys-9' residue is already methylated. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. The non-overalpping localization with SETD1A suggests that SETD1A and SETD1B make non-redundant contributions to the epigenetic control of chromatin structure and gene expression. Specifically tri-methylates 'Lys-4' of histone H3 in vitro. 3UVO;4ES0 NM_015048.1 210032580 SETD1B 12 12q24.31 SETD1B HGNC:29187 true hsa:23067 NP_055863.1:NM_015048.1 Component of the SET1 complex, at least composed of the catalytic subunit (SETD1A or SETD1B), WDR5, WDR82, RBBP5, ASH2L/ASH2, CXXC1/CFP1, HCFC1 and DPY30. Interacts with HCFC1 and ASH2L/ASH2. Interacts (via the RRM domain) with WDR82. Interacts (via the RRM domain) with hyperphosphorylated C-terminal domain (CTD) of RNA polymerase II large subunit (POLR2A) only in the presence of WDR82. Binds specifically to CTD heptad repeats phosphorylated on 'Ser-5' of each heptad 2020-06-12T23:07:23Z 2020-07-28T02:29:33Z 0 0 1 4228 CDBP04227 Histone-lysine N-methyltransferase SETD2 Q9BYW2 SETD2_HUMAN true false Enzyme Homo_sapiens SETD2 2564 287594.195 6.137 Involved in histone-lysine N-methyltransferase activity Histone methyltransferase that methylates 'Lys-36' of histone H3. H3 'Lys-36' methylation represents a specific tag for epigenetic transcriptional activation. Probably plays a role in chromatin structure modulation during elongation via its interaction with hyperphosphorylated POLR2A. Binds DNA at promoters. May also act as a transcription activator that binds to promoters. Binds to the promoters of adenovirus 12 E1A gene in case of infection, possibly leading to regulate its expression. 2A7O;4FMU;4H12 NM_014159.6 197313748 SETD2 3 3p21.31 SETD2 HGNC:18420 true hsa:29072 NP_054878.5:NM_014159.6 Ubiquitously expressed. Specifically interacts with hyperphosphorylated C-terminal domain (CTD) of RNA polymerase II large subunit (POLR2A). Binds specifically to CTD heptad repeats doubly phosphorylated on 'Ser-2' and 'Ser-5' of each heptad. Interacts with HTT 2020-06-12T23:07:23Z 2020-07-28T02:29:33Z 0 1 1 4229 CDBP04228 Histone-lysine N-methyltransferase SETMAR Q53H47 SETMR_HUMAN true false Enzyme Homo_sapiens SETMAR 671 62123.24 7.435 Involved in zinc ion binding Histone methyltransferase that methylates 'Lys-4' and 'Lys-36' of histone H3, 2 specific tags for epigenetic transcriptional activation. Specifically mediates dimethylation of H3 'Lys-36'. Has sequence-specific DNA-binding activity and recognizes the 19-mer core of the 5'-terminal inverted repeats (TIRs) of the Hsmar1 element. Has DNA nicking activity. Has in vivo end joining activity and may mediate genomic integration of foreign DNA. 3BO5;3F2K;3K9J;3K9K AK222734 62897027 SETMAR 3 3p26.1 SETMAR HGNC:10762 true hsa:6419 NP_001230652.1:NM_001243723.1;NP_006506.3:NM_006515.3 Widely expressed, with highest expression in placenta and ovary and lowest expression in skeletal muscle. magnesium ion 2020-06-12T23:07:23Z 2020-07-28T02:29:33Z 0 1 0 4230 CDBP04229 Histone-lysine N-methyltransferase SMYD3 Q9H7B4 SMYD3_HUMAN true false Enzyme Homo_sapiens SMYD3 428 49096.665 7.249 Involved in zinc ion binding Histone methyltransferase. Specifically methylates 'Lys-4' and 'Lys-5' of histone H3, inducing di- and tri-methylation, but not monomethylation. Plays an important role in transcriptional activation as a member of an RNA polymerase complex. Binds DNA containing 5'-CCCTCC-3' or 5'-GAGGGG-3' sequences. 3MEK;3OXF;3OXG;3OXL;3PDN;3QWP;3RU0 AB057595 19570495 SMYD3 1 1q44 SMYD3 HGNC:15513 true hsa:64754 NP_001161212.1:NM_001167740.1;NP_073580.1:NM_022743.2 Expressed in skeletal muscles and testis. Overexpressed in a majority of colorectal and hepatocellular carcinomas. Interacts with HSPCA. Interacts with HELZ. Interacts with POLR2A; the interaction may be indirect and may be mediated by HELZ 2020-06-12T23:07:23Z 2020-07-28T02:29:33Z 0 1 0 4231 CDBP04230 Histone-lysine N-methyltransferase SUV420H1 Q4FZB7 SV421_HUMAN true false Enzyme Homo_sapiens SUV420H1 885 44617.75 8.708 Involved in protein binding Histone methyltransferase that specifically trimethylates 'Lys-20' of histone H4. H4 'Lys-20' trimethylation represents a specific tag for epigenetic transcriptional repression. Mainly functions in pericentric heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin in these regions. SUV420H1 is targeted to histone H3 via its interaction with RB1 family proteins (RB1, RBL1 and RBL2) (By similarity). 3S8P NM_017635.3 50659082 SUV420H1 11 11q13.2 SUV420H1 HGNC:24283 true hsa:51111 NP_057112.3:NM_016028.4;NP_060105.3:NM_017635.3 Interacts with HP1 proteins CBX1, CBX3 and CBX5. Interacts with RB1 family proteins RB1, RBL1 and RBL2 2020-06-12T23:07:23Z 2020-07-28T02:29:34Z 0 0 1 4232 CDBP04231 Histone-lysine N-methyltransferase SUV420H2 Q86Y97 SV422_HUMAN true false Enzyme Homo_sapiens SUV420H2 462 52112.445 9.834 Involved in protein binding Histone methyltransferase that specifically trimethylates 'Lys-20' of histone H4. H4 'Lys-20' trimethylation represents a specific tag for epigenetic transcriptional repression. Mainly functions in pericentric heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin in these regions. SUV420H1 is targeted to histone H3 via its interaction with RB1 family proteins (RB1, RBL1 and RBL2) (By similarity). 3RQ4 NM_032701.3 31543169 SUV420H2 19 19q13.42 SUV420H2 HGNC:28405 true hsa:84787 NP_116090.2:NM_032701.3 Interacts with HP1 proteins CBX1, CBX3 and CBX5. Interacts with RB1 family proteins RB1, RBL1 and RBL2 2020-06-12T23:07:23Z 2020-07-28T02:29:34Z 0 0 1 4233 CDBP04232 Probable methyltransferase TARBP1 Q13395 TARB1_HUMAN true false Enzyme Homo_sapiens TARBP1 1621 181672.8 7.05 Involved in binding Probable S-adenosyl-L-methionine-dependent methyltransferase which methylates RNA molecules such as tRNAs. In case of infection by HIV-1, it binds to the loop region of TAR RNA, a region also bound by RNA polymerase II. Binding of TARBP1 and RNA polymerase II to HIV-1 TAR RNA is mutually exclusive, suggesting that TARBP1 may function alone or in conjunction with HIV-1 Tat to disengage RNA polymerase II from HIV-1 TAR RNA. May act by methylating HIV-1 TAR RNA ["None"] ["None"] AL136124 56204383 TARBP1 Chromosome:1 1q42.3 TARBP1 HGNC:11568 true 2020-06-12T23:07:23Z 2020-07-28T02:29:34Z 0 0 0 4234 CDBP04233 Dimethyladenosine transferase 1, mitochondrial Q8WVM0 TFB1M_HUMAN true false Enzyme Homo_sapiens TFB1M 346 39542.6 9.74 Involved in rRNA (adenine-N6,N6-)-dimethyltransferase activity S-adenosyl-L-methionine-dependent methyltransferase which specifically dimethylates mitochondrial 12S rRNA at the conserved stem loop. Also required for basal transcription of mitochondrial DNA, probably via its interaction with POLRMT and TFAM. Stimulates transcription independently of the methyltransferase activity ["None"] ["None"] AF151833 4929619 TFB1M Chromosome:6 6q25.1-q25.3 TFB1M HGNC:17037 true 2020-06-12T23:07:23Z 2020-07-28T02:29:34Z 0 0 0 4235 CDBP04234 Dimethyladenosine transferase 2, mitochondrial Q9H5Q4 TFB2M_HUMAN true false Enzyme Homo_sapiens TFB2M 396 45348.4 9.63 Involved in rRNA (adenine-N6,N6-)-dimethyltransferase activity S-adenosyl-L-methionine-dependent methyltransferase which specifically dimethylates mitochondrial 12S rRNA at the conserved stem loop. Also required for basal transcription of mitochondrial DNA, probably via its interaction with POLRMT and TFAM. Stimulates transcription independently of the methyltransferase activity. Compared to TFB1M, it activates transcription of mitochondrial DNA more efficiently, while it has less methyltransferase activity ["None"] ["None"] AF529366 33328300 TFB2M Chromosome:1 1q44 TFB2M HGNC:18559 true 2020-06-12T23:07:23Z 2020-07-28T02:29:34Z 0 0 1 4236 CDBP04235 tRNA guanosine-2'-O-methyltransferase TRM11 homolog Q7Z4G4 TRM11_HUMAN true false Enzyme Homo_sapiens TRMT11 463 53420.6 7.88 Involved in nucleic acid binding Catalytic subunit of an S-adenosyl-L-methionine- dependent tRNA methyltransferase complex that mediates the methylation of the guanosine nucleotide at position 10 (m2G10) in tRNAs ["None"] ["None"] NM_001031712.2 94420683 TRMT11 Chromosome:6 6q11.1-q22.33 TRMT11 HGNC:21080 true 2020-06-12T23:07:23Z 2020-07-28T02:29:34Z 0 0 0 4237 CDBP04236 tRNA:m(4)X modification enzyme TRM13 homolog Q9NUP7 TRM13_HUMAN false false Metal Binding Homo_sapiens TRMT13 481 54246.57 8.093 Involved in methyltransferase activity tRNA methylase which 2'-O-methylates cytidine(4) in tRNA(Pro) and tRNA(Gly)(GCC), and adenosine(4) in tRNA(His) (By similarity). NM_019083.2 226493203 CCDC76 1 1p21.2 CCDC76 HGNC:25502 true hsa:54482 NP_061956.2:NM_019083.2 2020-06-12T23:07:23Z 2020-07-28T02:32:05Z 0 1 0 4238 CDBP04237 tRNA (guanine(26)-N(2))-dimethyltransferase Q9NXH9 TRM1_HUMAN true false Enzyme Homo_sapiens TRMT1 659 72233.35 7.638 Involved in RNA binding Dimethylates a single guanine residue at position 26 of most tRNAs using S-adenosyl-L-methionine as donor of the methyl groups. NM_001136035.2 209862871 TRMT1 19 19p13.2 TRMT1 HGNC:25980 true hsa:55621 NP_001129507.1:NM_001136035.2;NP_001136026.1:NM_001142554.1;NP_060192.1:NM_017722.3 2020-06-12T23:07:23Z 2020-07-28T02:29:34Z 0 1 0 4239 CDBP04238 tRNA (adenine(58)-N(1))-methyltransferase catalytic subunit TRMT61A Q96FX7 TRM61_HUMAN true false Enzyme Homo_sapiens TRMT61A 289 31381.48 7.358 Involved in tRNA (adenine-N1-)-methyltransferase activity Catalytic subunit of tRNA (adenine-N(1)-)-methyltransferase, which catalyzes the formation of N(1)-methyladenine at position 58 (m1A58) in initiator methionyl-tRNA. NM_152307.2 123173772 TRMT61A 14 14q32 TRMT61A HGNC:23790 true hsa:115708 NP_689520.2:NM_152307.2 tRNA (adenine-N(1)-)-methyltransferase is a heterodimer of TRM6 and TRM61 2020-06-12T23:07:23Z 2020-07-28T02:29:34Z 0 0 0 4240 CDBP04239 tRNA (guanine-N(7)-)-methyltransferase Q9UBP6 TRMB_HUMAN true false Enzyme Homo_sapiens METTL1 276 31470.775 7.634 Involved in tRNA (guanine-N7-)-methyltransferase activity Catalyzes the formation of N(7)-methylguanine at position 46 (m7G46) in tRNA. 3CKK AK314851 189054580 METTL1 12 12q13 METTL1 HGNC:7030 true hsa:4234 NP_005362.3:NM_005371.5;NP_075422.3:NM_023033.3 Ubiquitous. Forms a complex with WDR4 2020-06-12T23:07:23Z 2020-07-28T02:29:34Z 0 0 0 4241 CDBP04240 tRNA (adenine(58)-N(1))-methyltransferase, mitochondrial Q9BVS5 TR61B_HUMAN true false Enzyme Homo_sapiens TRMT61B 477 52964.87 6.626 Involved in tRNA (adenine-N1-)-methyltransferase activity Methyltransferase that catalyzes the formation of N(1)-methyladenine at position 58 (m1A58) in various tRNAs in mitochondrion, including tRNA(Leu) (decephering codons UUA or UUG), tRNA(Lys) and tRNA(Ser) (decephering codons UCA, UCU, UCG or UCC). 2B25 AC097720 62988627 TRMT61B 2 2p23.2 TRMT61B HGNC:26070 true hsa:55006 NP_060380.3:NM_017910.3 Homooligomer; in contrast to TRMT61A, does not for a heterotetramer 2020-06-12T23:07:23Z 2020-07-28T02:29:34Z 0 0 0 4242 CDBP04241 tRNA (guanine(37)-N1)-methyltransferase Q32P41 TRMT5_HUMAN true false Enzyme Homo_sapiens TRMT5 509 58245.73 8.61 Involved in tRNA (guanine-N1-)-methyltransferase activity Specifically methylates the N1 position of guanosine-37 in various cytoplasmic and mitochondrial tRNAs. Methylation is not dependent on the nature of the nucleoside 5' of the target nucleoside. This is the first step in the biosynthesis of wybutosine (yW), a modified base adjacent to the anticodon of tRNAs and required for accurate decoding. NM_020810.2 145275187 TRMT5 14 14q23.1 TRMT5 HGNC:23141 true hsa:57570 NP_065861.2:NM_020810.2 Monomer 2020-06-12T23:07:23Z 2020-07-28T02:29:34Z 0 0 0 4243 CDBP04242 tRNA wybutosine-synthesizing protein 2 homolog Q53H54 TYW2_HUMAN false false Enzyme Homo_sapiens TRMT12 448 50235.3 8.05 Involved in methyltransferase activity Probable S-adenosyl-L-methionine-dependent methyltransferase that acts as a component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA ["None"] ["None"] AK000779 7021077 TRMT12 Chromosome:8 8q24.13 TRMT12 HGNC:26091 true 2020-06-12T23:07:23Z 2020-07-28T02:34:14Z 0 0 0 4244 CDBP04243 tRNA wybutosine-synthesizing protein 3 homolog Q6IPR3 TYW3_HUMAN false false Enzyme Homo_sapiens TYW3 259 29793.9 7.77 Involved in methyltransferase activity Probable S-adenosyl-L-methionine-dependent methyltransferase that acts as a component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA ["None"] ["None"] NM_138467.2 42734381 TYW3 Chromosome:1 1p31.1 TYW3 HGNC:24757 true 2020-06-12T23:07:23Z 2020-07-28T02:34:14Z 0 0 0 4245 CDBP04244 Amiloride-sensitive cation channel 1, neuronal Q16515 ACCN1_HUMAN false true Transporter Homo_sapiens ACCN1 512 57708.5 4.84 Involved in ligand-gated sodium channel activity Cation channel with high affinity for sodium, which is gated by extracellular protons and inhibited by the diuretic amiloride. Also permeable for Li(+) and K(+). Generates a biphasic current with a fast inactivating and a slow sustained phase. Heteromeric channel assembly seems to modulate ["None"] ["38-58", "428-448"] NM_001094.4 9998944 ACCN1 Chromosome:1 17q12 ACCN1 HGNC:99 true 2020-06-12T23:07:23Z 2020-07-28T02:32:13Z 0 0 0 4246 CDBP04245 Amiloride-sensitive cation channel 2, neuronal P78348 ACCN2_HUMAN false true Transporter Homo_sapiens ACCN2 528 59908.9 5.5 Involved in ligand-gated sodium channel activity Cation channel with high affinity for sodium, which is gated by extracellular protons and inhibited by the diuretic amiloride. Also permeable for Ca(2+), Li(+) and K(+). Generates a biphasic current with a fast inactivating and a slow sustained phase. Mediates glutamate-independent Ca(2+) entry into neurons upon acidosis. This Ca(2+) overloading is toxic for cortical neurons and may be in part responsible for ischemic brain injury. Heteromeric channel assembly seems to modulate channel properties. Functions as a postsynaptic proton receptor that influences intracellular Ca(2+) concentration and calmodulin-dependent protein kinase II phosphorylation and thereby the density of dendritic spines. Modulates activity in the circuits underlying innate fear ["None"] ["45-65", "428-448"] NM_001095.2 21536349 ACCN2 Chromosome:1 12q12 ACCN2 HGNC:100 true 2020-06-12T23:07:23Z 2020-07-28T02:32:13Z 0 0 0 4247 CDBP04246 Amiloride-sensitive cation channel 3 Q9UHC3 ACCN3_HUMAN false true Transporter Homo_sapiens ACCN3 531 58904.7 7.14 Involved in ligand-gated sodium channel activity Cation channel with high affinity for sodium, which is gated by extracellular protons and inhibited by the diuretic amiloride. Generates a biphasic current with a fast inactivating and a slow sustained phase. In sensory neurons is proposed to mediate the pain induced by acidosis that occurs in ischemic, damaged or inflamed tissue. May be involved in hyperalgesia. May play a role in mechanoreception. Heteromeric channel assembly seems to modulate channel properties ["None"] ["44-61", "442-460"] NM_004769.2 4757710 ACCN3 Chromosome:7 7q35 ACCN3 HGNC:101 true 2020-06-12T23:07:23Z 2020-07-28T02:32:13Z 0 0 0 4248 CDBP04247 Amiloride-sensitive cation channel 4 Q96FT7 ACCN4_HUMAN false true Transporter Homo_sapiens ACCN4 647 70103.9 7.87 Involved in sodium channel activity Probable cation channel with high affinity for sodium. In vitro, has no proton-gated channel activity ["None"] ["196-216", "547-567"] BC010439 14714604 ACCN4 Chromosome:2 2q35 ACCN4 HGNC:21263 true 2020-06-12T23:07:23Z 2020-07-28T02:32:13Z 0 0 0 4249 CDBP04248 Amiloride-sensitive cation channel 5 Q9NY37 ACCN5_HUMAN false true Transporter Homo_sapiens ACCN5 505 57463.8 8.26 Involved in sodium channel activity Cation channel that gives rise to very low constitutive currents in the absence of activation. The activated channel exhibits selectivity for sodium, and is inhibited by amiloride ["None"] ["62-82", "460-480"] AJ252011 7406623 ACCN5 Chromosome:4 4q31.3-q32 ACCN5 HGNC:17537 true 2020-06-12T23:07:23Z 2020-07-28T02:32:13Z 0 0 0 4250 CDBP04249 Arginine vasopressin-induced protein 1 Q5T686 AVPI1_HUMAN false false Enzyme Homo_sapiens AVPI1 147 16758.9 11.43 Involved in cell cycle May be involved in MAP kinase activation, epithelial sodium channel (ENaC) down-regulation and cell cycling ["None"] ["None"] AF218019 10441968 AVPI1 Chromosome:1 10q24.2 AVPI1 HGNC:30898 true 2020-06-12T23:07:23Z 2020-07-28T02:34:14Z 0 0 0 4251 CDBP04250 Cyclin-D1-binding protein 1 O95273 CCDB1_HUMAN false false Enzyme Homo_sapiens CCNDBP1 360 40261.5 4.45 Involved in protein binding May negatively regulate cell cycle progression. May act at least in part via inhibition of the cyclin-D1/CDK4 complex, thereby preventing phosphorylation of RB1 and blocking E2F- dependent transcription ["None"] ["None"] NM_012142.3 227500367 CCNDBP1 Chromosome:1 15q14-q15 CCNDBP1 HGNC:1587 true 2020-06-12T23:07:23Z 2020-07-28T02:34:14Z 0 0 0 4252 CDBP04251 Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3 Q9P1Z3 HCN3_HUMAN false true Transporter Homo_sapiens HCN3 774 86031.0 10.12 Involved in ion channel activity Putative hyperpolarization-activated ion channel exhibiting weak selectivity for potassium over sodium ions ["None"] ["98-118", "125-145", "172-192", "202-222", "254-274", "330-350"] NM_020897.1 38327037 HCN3 Chromosome:1 1q22 HCN3 HGNC:19183 true 2020-06-12T23:07:23Z 2020-07-28T02:32:13Z 0 0 0 4253 CDBP04252 Sodium-dependent glucose transporter 1 Q5TF39 NAGT1_HUMAN false false Enzyme Homo_sapiens NAGLT1 518 56217.055 5.427 Involved in transmembrane transport May function as a sodium-dependent glucose transporter (By similarity). NM_153369.2 154937330 NAGLT1 6 6q22 NAGLT1 HGNC:21053 true hsa:91749 NP_699200.2:NM_153369.2 2020-06-12T23:07:23Z 2020-07-28T02:34:14Z 0 0 0 4254 CDBP04253 Neurofascin O94856 NFASC_HUMAN false false Enzyme Homo_sapiens NFASC 1347 150025.7 6.61 Posttranslational modification, protein turnover, chaperones Cell adhesion, ankyrin-binding protein which may be involved in neurite extension, axonal guidance, synaptogenesis, myelination and neuron-glial cell interactions ["1-24"] ["1218-1238"] NM_001005388 237858675 NFASC Chromosome:1 1q32.1 NFASC HGNC:29866 true 2020-06-12T23:07:23Z 2020-07-28T02:34:14Z 0 0 0 4255 CDBP04254 Sodium/bile acid cotransporter 4 Q96EP9 NTCP4_HUMAN false true Transporter Homo_sapiens SLC10A4 437 46503.19 5.277 Involved in bile acid:sodium symporter activity AY704414 56790800 SLC10A4 4 4p11 SLC10A4 HGNC:22980 true hsa:201780 NP_689892.1:NM_152679.3 2020-06-12T23:07:23Z 2020-07-28T02:32:13Z 0 0 0 4256 CDBP04255 Sodium/bile acid cotransporter 5 Q5PT55 NTCP5_HUMAN false true Transporter Homo_sapiens SLC10A5 438 48870.335 8.775 Involved in bile acid:sodium symporter activity AK095808 193788240 SLC10A5 8 8q21.13 SLC10A5 HGNC:22981 true hsa:347051 NP_001010893.1:NM_001010893.2 2020-06-12T23:07:23Z 2020-07-28T02:32:13Z 0 0 0 4257 CDBP04256 Sodium/bile acid cotransporter 7 Q0GE19 NTCP7_HUMAN false true Transporter Homo_sapiens SLC10A7 358 37431.475 9.651 Involved in bile acid:sodium symporter activity DQ871036 113196587 SLC10A7 4 4q31.22 SLC10A7 HGNC:23088 true hsa:84068 NP_001025169.1:NM_001029998.3;NP_115504.1:NM_032128.3 2020-06-12T23:07:23Z 2020-07-28T02:32:13Z 0 0 0 4258 CDBP04257 Protein OSCP1 Q8WVF1 OSCP1_HUMAN false false Enzyme Homo_sapiens OSCP1 389 44586.0 5.58 Involved in transport May be involved in drug clearance in the placenta ["None"] ["None"] NM_145047 268370167 OSCP1 Chromosome:1 1p34.3 OSCP1 HGNC:29971 true 2020-06-12T23:07:23Z 2020-07-28T02:34:14Z 0 0 0 4259 CDBP04258 Very-long-chain (3R)-3-hydroxyacyl-[acyl-carrier protein] dehydratase 3 Q9P035 HACD3_HUMAN true false Enzyme Homo_sapiens PTPLAD1 362 43159.225 8.946 Involved in GTPase activator activity Responsible for the dehydration step in very long-chain fatty acid (VLCFA) synthesis. Involved in Rac1-signaling pathways leading to the modulation of gene expression. NM_016395.2 117168248 PTPLAD1 15 15q22.2 PTPLAD1 HGNC:24175 true hsa:51495 NP_057479.2:NM_016395.2 Highly expressed in testis, kidney, brain, liver and weakly in skeletal muscle, spleen and heart. No expression detected in leukocytes. Interacts with the condensation enzymes of the ELOVL family. Interacts with RAC1 2020-06-12T23:07:23Z 2020-07-28T02:29:35Z 0 0 0 4260 CDBP04259 Regulator of differentiation 1 O95758 ROD1_HUMAN false false Enzyme Homo_sapiens ROD1 552 59689.0 9.46 Involved in nucleotide binding May play a role in regulation of differentiation. In vitro, binds RNA, preferentially to both poly(G) and poly(U). Overexpressed, blocks differentiation of K562 leukemia cells following treatment with phorbol esters or sodium butyrate without affecting proliferation ["None"] ["None"] NM_005156.5 38569466 ROD1 Chromosome:9 9q32 ROD1 HGNC:10253 true 2020-06-12T23:07:23Z 2020-07-28T02:34:14Z 0 0 0 4261 CDBP04260 Solute carrier family 22 member 7 Q9Y694 S22A7_HUMAN false true Transporter Homo_sapiens SLC22A7 548 60025.0 7.03 Involved in transmembrane transport Mediates sodium-independent multispecific organic anion transport. Transport of prostaglandin E2, prostaglandin F2, tetracycline, bumetanide, estrone sulfate, glutarate, dehydroepiandrosterone sulfate, allopurinol, 5-fluorouracil, paclitaxel, L-ascorbic acid, salicylate, ethotrexate, and alpha- ketoglutarate ["None"] ["21-41", "146-166", "180-200", "204-224", "234-254", "259-279", "346-366", "376-397", "404-423", "432-452", "466-486", "493-513"] AF097518 SLC22A7 Chromosome:6 6p21.1 SLC22A7 HGNC:10971 true 2020-06-12T23:07:23Z 2020-06-12T23:07:23Z 0 0 0 4262 CDBP04261 Probable sodium-coupled neutral amino acid transporter 6 Q8IZM9 S38A6_HUMAN false false Enzyme Homo_sapiens SLC38A6 456 50927.9 7.98 Amino acid transport and metabolism Probable sodium-dependent amino acid/proton antiporter ["None"] ["42-62", "85-105", "111-131", "170-190", "191-211", "250-270", "288-308", "327-347", "371-391", "394-414", "431-451"] AF543422 24181971 SLC38A6 Chromosome:1 14q23.1 SLC38A6 HGNC:19863 true 2020-06-12T23:07:23Z 2020-07-28T02:34:14Z 0 0 0 4263 CDBP04262 Putative sodium-coupled neutral amino acid transporter 8 A6NNN8 S38A8_HUMAN false false Enzyme Homo_sapiens SLC38A8 435 46730.1 7.47 Amino acid transport and metabolism Putative sodium-dependent amino acid/proton antiporter ["None"] ["29-49", "55-75", "100-120", "151-171", "178-198", "218-240", "250-270", "295-315", "348-368", "374-394", "410-430"] NM_001080442.1 122937281 SLC38A8 Chromosome:1 16q23.3 SLC38A8 HGNC:32434 true 2020-06-12T23:07:23Z 2020-07-28T02:34:14Z 0 0 0 4264 CDBP04263 Putative sodium-coupled neutral amino acid transporter 10 Q9HBR0 S38AA_HUMAN false false Enzyme Homo_sapiens SLC38A10 1119 119761.5 5.48 Amino acid transport and metabolism Putative sodium-dependent amino acid/proton antiporter ["None"] ["4-24", "36-58", "84-104", "120-140", "153-173", "229-249", "272-292", "323-343", "345-365", "378-398"] NM_001037984.1 83921602 SLC38A10 Chromosome:1 17q25.3 SLC38A10 HGNC:28237 true 2020-06-12T23:07:23Z 2020-07-28T02:34:14Z 0 0 0 4265 CDBP04264 Putative sodium-coupled neutral amino acid transporter 11 Q08AI6 S38AB_HUMAN false false Enzyme Homo_sapiens SLC38A11 406 44824.4 6.58 Amino acid transport and metabolism Putative sodium-dependent amino acid/proton antiporter ["None"] ["8-28", "48-68", "93-113", "121-141", "156-176", "202-222", "241-263", "279-299", "301-321", "340-360"] NM_001199148.1 312433996 SLC38A11 Chromosome:2 2q24.3 SLC38A11 HGNC:26836 true 2020-06-12T23:07:23Z 2020-07-28T02:34:14Z 0 0 0 4266 CDBP04265 Sodium-dependent neutral amino acid transporter B(0)AT2 Q9H2J7 S6A15_HUMAN false true Transporter Homo_sapiens SLC6A15 730 69885.24 6.007 Involved in neurotransmitter:sodium symporter activity Functions as a sodium-dependent neutral amino acid transporter. Exhibits preference for the branched-chain amino acids, particularly leucine, valine and isoleucine and methionine. Mediates the saturable, pH-sensitive and electrogenic cotransport of proline and sodium ions with a stoichiometry of 1:1. May have a role as transporter for neurotransmitter precursors into neurons. In contrast to other members of the neurotransmitter transporter family, does not appear to be chloride-dependent. AF265577 11907841 SLC6A15 12 12q21.3 SLC6A15 HGNC:13621 true hsa:55117 NP_001139807.1:NM_001146335.2;NP_060527.2:NM_018057.6;NP_877499.1:NM_182767.5 Almost exclusively expressed in the brain. 2020-06-12T23:07:23Z 2020-07-28T02:32:13Z 0 0 0 4267 CDBP04266 Orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 Q9GZN6 S6A16_HUMAN false true Transporter Homo_sapiens SLC6A16 736 82199.1 8.33 Involved in neurotransmitter:sodium symporter activity ["None"] ["139-159", "177-197", "199-219", "264-284", "290-310", "338-358", "383-403", "496-516", "534-554", "568-588", "609-629", "659-679"] NM_014037.2 55749589 SLC6A16 Chromosome:1 19q13.1-q13.4 SLC6A16 HGNC:13622 true 2020-06-12T23:07:23Z 2020-07-28T02:32:13Z 0 0 0 4268 CDBP04267 Sodium-dependent neutral amino acid transporter SLC6A17 Q9H1V8 S6A17_HUMAN false true Transporter Homo_sapiens SLC6A17 727 81000.71 5.981 Involved in neurotransmitter:sodium symporter activity Functions as a sodium-dependent vesicular transporter selective for proline, glycine, leucine and alanine. In contrast to other members of this neurotransmitter transporter family, does not appear to be chloride-dependent (By similarity). AL137790 56204187 SLC6A17 1 1p13.3 SLC6A17 HGNC:31399 true hsa:388662 NP_001010898.1:NM_001010898.2 2020-06-12T23:07:23Z 2020-07-28T02:32:13Z 0 0 0 4269 CDBP04268 Sodium-dependent neutral amino acid transporter B(0)AT3 Q96N87 S6A18_HUMAN false true Transporter Homo_sapiens SLC6A18 628 70896.005 7.291 Involved in neurotransmitter:sodium symporter activity Functions as a sodium and chloride-dependent neutral amino acid transporter (By similarity). AK055798 16550619 SLC6A18 5 5p15.33 SLC6A18 HGNC:26441 true hsa:348932 NP_872438.2:NM_182632.2 Abundantly expressed in kidney, but not in intestine. Associates with TMEM27 . TMEM27 association is required for functional expression in kidney (By similarity) 2020-06-12T23:07:23Z 2020-07-28T02:32:13Z 0 0 0 4270 CDBP04269 Solute carrier family 7 member 13 Q8TCU3 S7A13_HUMAN false true Transporter Homo_sapiens SLC7A13 470 52113.5 9.04 Involved in transport Mediates the transport L-aspartate and L-glutamate in a sodium-independent manner ["None"] ["12-32", "46-66", "88-108", "129-149", "163-183", "207-227", "241-261", "288-308", "337-357", "359-379", "394-414", "422-442"] AJ417661 20146067 SLC7A13 Chromosome:8 8q21.3 SLC7A13 HGNC:23092 true 2020-06-12T23:07:23Z 2020-07-28T02:32:13Z 0 0 0 4271 CDBP04270 Sodium channel protein type 1 subunit alpha P35498 SCN1A_HUMAN false true Transporter Homo_sapiens SCN1A 2009 228969.5 5.53 Involved in ion channel activity Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient ["None"] ["124-147", "156-175", "189-207", "214-233", "250-273", "400-425", "763-787", "799-822", "831-850", "857-876", "893-913", "967-992", "1214-1237", "1251-1276", "1283-1304", "1309-1330", "1350-1377", "1457-1483", "1537-1560", "1572-1595", "1602-1625", "1636-1657", "1673-1695", "1762-1786"] 1BYY AB093548 23978418 SCN1A Chromosome:2 2q24.3 SCN1A HGNC:10585 true 2020-06-12T23:07:23Z 2020-07-28T02:32:13Z 0 0 0 4272 CDBP04271 Sodium channel subunit beta-1 Q07699 SCN1B_HUMAN false false Enzyme Homo_sapiens SCN1B 218 24707.0 4.56 Involved in voltage-gated sodium channel activity Crucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the sodium channel. The subunit beta-1 can modulate multiple alpha subunit isoforms from brain, skeletal muscle, and heart. Its association with neurofascin may target the sodium channels to the nodes of Ranvier of developing axons and retain these channels at the nodes in mature myelinated axons ["1-18"] ["161-182"] L10338 307415 SCN1B Chromosome:1 19q13.1 SCN1B HGNC:10586 true 2020-06-12T23:07:23Z 2020-07-28T02:34:14Z 0 0 0 4273 CDBP04272 Sodium channel protein type 2 subunit alpha Q99250 SCN2A_HUMAN false true Transporter Homo_sapiens SCN2A 2005 227972.6 5.42 Involved in ion channel activity Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient ["None"] ["125-148", "157-176", "190-208", "215-234", "251-274", "402-427", "754-778", "790-813", "822-841", "848-867", "884-904", "958-983", "1204-1227", "1241-1266", "1273-1294", "1299-1320", "1340-1367", "1447-1473", "1527-1550", "1562-1585", "1592-1615", "1626-1647", "1663-1685", "1752-1776"] 1BYY AC011303 62822423 SCN2A Chromosome:2 2q24.3 SCN2A HGNC:10588 true 2020-06-12T23:07:23Z 2020-07-28T02:32:13Z 0 0 0 4274 CDBP04273 Sodium channel subunit beta-2 O60939 SCN2B_HUMAN false false Enzyme Homo_sapiens SCN2B 215 24325.7 6.35 Involved in voltage-gated sodium channel activity Crucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the sodium channel. The subunit beta-2 causes an increase in the plasma membrane surface area and in its folding into microvilli. Interacts with TNR may play a crucial role in clustering and regulation of activity of sodium channels at nodes of Ranvier ["1-29"] ["160-180"] AF007783 3309111 SCN2B Chromosome:1 11q23 SCN2B HGNC:10589 true 2020-06-12T23:07:23Z 2020-07-28T02:34:14Z 0 0 0 4275 CDBP04274 Sodium channel protein type 3 subunit alpha Q9NY46 SCN3A_HUMAN false true Transporter Homo_sapiens SCN3A 2000 226291.9 5.49 Involved in ion channel activity Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient ["None"] ["124-147", "156-175", "189-207", "214-233", "249-273", "401-426", "755-779", "791-814", "823-842", "849-869", "885-905", "959-984", "1202-1225", "1239-1264", "1271-1292", "1297-1318", "1338-1359", "1442-1468", "1522-1545", "1557-1580", "1587-1610", "1621-1642", "1658-1680", "1747-1771"] 1BYY NM_006922.3 126362949 SCN3A Chromosome:2 2q24 SCN3A HGNC:10590 true 2020-06-12T23:07:23Z 2020-07-28T02:32:13Z 0 0 0 4276 CDBP04275 Sodium channel subunit beta-3 Q9NY72 SCN3B_HUMAN false false Enzyme Homo_sapiens SCN3B 215 24702.1 4.35 Involved in voltage-gated sodium channel activity Modulates channel gating kinetics. Causes unique persistent sodium currents. Inactivates the sodium channel opening more slowly than the subunit beta-1. Its association with neurofascin may target the sodium channels to the nodes of Ranvier of developing axons and retain these channels at the nodes in mature myelinated axons ["1-22"] ["160-180"] AJ243396 7160975 SCN3B Chromosome:1 11q23.3 SCN3B HGNC:20665 true 2020-06-12T23:07:23Z 2020-07-28T02:34:14Z 0 0 0 4277 CDBP04276 Sodium channel protein type 4 subunit alpha P35499 SCN4A_HUMAN false true Transporter Homo_sapiens SCN4A 1836 208059.2 4.73 Involved in ion channel activity This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. This sodium channel may be present in both denervated and innervated skeletal muscle ["None"] ["129-150", "159-178", "191-210", "217-236", "253-266", "424-449", "574-597", "609-632", "641-660", "667-686", "702-724", "777-802", "1027-1049", "1064-1089", "1096-1116", "1122-1143", "1163-1184", "1269-1295", "1349-1372", "1384-1407", "1414-1437", "1447-1469", "1485-1507", "1574-1598"] NM_000334.4 93587342 SCN4A Chromosome:1 17q23.3 SCN4A HGNC:10591 true 2020-06-12T23:07:23Z 2020-07-28T02:32:13Z 0 0 0 4278 CDBP04277 Sodium channel subunit beta-4 Q8IWT1 SCN4B_HUMAN false false Enzyme Homo_sapiens SCN4B 228 24968.8 7.45 Involved in voltage-gated sodium channel activity Modulates channel gating kinetics. Causes negative shifts in the voltage dependence of activation of certain alpha sodium channels, but does not affect the voltage dependence of inactivation ["1-30"] ["163-183"] AY149967 27465047 SCN4B Chromosome:1 11q23.3 SCN4B HGNC:10592 true 2020-06-12T23:07:23Z 2020-07-28T02:34:14Z 0 0 0 4279 CDBP04278 Sodium channel protein type 5 subunit alpha Q14524 SCN5A_HUMAN false true Transporter Homo_sapiens SCN5A 2016 226937.5 5.15 Involved in ion channel activity This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. It is a tetrodotoxin-resistant Na(+) channel isoform. This channel is responsible for the initial upstroke of the action potential in the electrocardiogram ["None"] ["127-150", "159-178", "192-210", "217-236", "253-276", "390-415", "712-736", "748-771", "780-799", "806-825", "842-862", "914-939", "1201-1224", "1238-1263", "1270-1291", "1296-1317", "1337-1359", "1444-1470", "1524-1547", "1559-1582", "1589-1612", "1623-1644", "1660-1682", "1748-1772"] AB158469 44886082 SCN5A Chromosome:3 3p21 SCN5A HGNC:10593 true 2020-06-12T23:07:23Z 2020-07-28T02:32:13Z 0 0 0 4280 CDBP04279 Sodium channel protein type 7 subunit alpha Q01118 SCN7A_HUMAN false true Transporter Homo_sapiens SCN7A 1682 193491.6 8.02 Involved in ion channel activity Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient ["None"] ["114-140", "143-168", "180-202", "204-223", "240-264", "369-395", "501-524", "536-559", "567-590", "593-609", "630-650", "705-728", "930-958", "966-991", "997-1019", "1022-1040", "1060-1080", "1167-1193", "1248-1270", "1281-1305", "1312-1335", "1345-1369", "1379-1405", "1470-1496"] NM_002976.2 111378393 SCN7A Chromosome:2 2q21-q23 SCN7A HGNC:10594 true 2020-06-12T23:07:23Z 2020-07-28T02:32:13Z 0 0 0 4281 CDBP04280 Sodium channel protein type 8 subunit alpha Q9UQD0 SCN8A_HUMAN false true Transporter Homo_sapiens SCN8A 1980 225278.0 6.18 Involved in ion channel activity Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. In macrophages and melanoma cells, isoform 5 may participate in the control of podosome and invadopodia formation ["None"] ["128-151", "160-179", "193-211", "218-237", "253-277", "388-413", "748-772", "784-807", "816-835", "842-862", "878-898", "952-977", "1194-1217", "1231-1256", "1263-1284", "1289-1310", "1330-1351", "1438-1464", "1518-1541", "1553-1576", "1583-1606", "1617-1638", "1654-1676", "1742-1766"] 1BYY AB027567 4958860 SCN8A Chromosome:1 12q13 SCN8A HGNC:10596 true 2020-06-12T23:07:23Z 2020-07-28T02:32:13Z 0 0 0 4282 CDBP04281 Sodium channel protein type 9 subunit alpha Q15858 SCN9A_HUMAN false true Transporter Homo_sapiens SCN9A 1988 226340.1 6.98 Involved in ion channel activity Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. It is a tetrodotoxin-sensitive Na(+) channel isoform. Plays a role in pain mechanisms, especially in the development of inflammatory pain ["None"] ["122-145", "154-173", "187-205", "212-231", "248-271", "379-404", "739-763", "775-798", "807-826", "833-852", "869-889", "943-968", "1188-1211", "1225-1250", "1257-1278", "1283-1304", "1324-1351", "1431-1457", "1511-1534", "1546-1569", "1576-1599", "1610-1631", "1647-1669", "1736-1760"] 4506813 SCN9A Chromosome:2 2q24 SCN9A HGNC:10597 true 2020-06-12T23:07:23Z 2020-07-28T02:32:13Z 0 0 0 4283 CDBP04282 Sodium channel protein type 10 subunit alpha Q9Y5Y9 SCNAA_HUMAN false true Transporter Homo_sapiens SCN10A 1956 220623.6 5.77 Involved in ion channel activity This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which sodium ions may pass in accordance with their electrochemical gradient. It is a tetrodotoxin-resistant sodium channel isoform. Its electrophysiological properties vary depending on the type of the associated beta subunits (in vitro). Plays a role in neuropathic pain mechanisms ["None"] ["126-149", "155-174", "188-206", "213-232", "249-272", "374-399", "660-684", "696-719", "728-747", "754-773", "790-810", "865-890", "1148-1171", "1185-1210", "1217-1238", "1243-1264", "1284-1311", "1392-1418", "1472-1495", "1507-1530", "1537-1560", "1573-1594", "1610-1632", "1698-1722"] AF117907 4838145 SCN10A Chromosome:3 3p22.2 SCN10A HGNC:10582 true 2020-06-12T23:07:23Z 2020-07-28T02:32:13Z 0 0 0 4284 CDBP04283 Sodium channel protein type 11 subunit alpha Q9UI33 SCNBA_HUMAN false true Transporter Homo_sapiens SCN11A 1791 204919.7 8.04 Involved in ion channel activity This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which sodium ions may pass in accordance with their electrochemical gradient. It is a tetrodotoxin-resistant sodium channel isoform. Also involved, with the contribution of the receptor tyrosine kinase NTRK2, in rapid BDNF-evoked neuronal depolarization ["None"] ["127-148", "157-180", "193-212", "220-239", "256-269", "377-402", "573-596", "608-631", "640-659", "668-687", "703-725", "786-811", "1052-1074", "1089-1114", "1121-1138", "1140-1161", "1181-1202", "1282-1308", "1362-1385", "1397-1420", "1427-1450", "1462-1484", "1500-1522", "1580-1604"] AF188679 6572950 SCN11A Chromosome:3 3p22.2 SCN11A HGNC:10583 true 2020-06-12T23:07:23Z 2020-07-28T02:32:14Z 0 0 0 4285 CDBP04284 Amiloride-sensitive sodium channel subunit beta P51168 SCNNB_HUMAN false true Transporter Homo_sapiens SCNN1B 640 72658.5 6.26 Involved in ligand-gated sodium channel activity Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception ["None"] ["51-71", "533-553"] 1I5H X87159 1004271 SCNN1B Chromosome:1 16p12.2-p12.1 SCNN1B HGNC:10600 true 2020-06-12T23:07:23Z 2020-07-28T02:32:14Z 0 0 0 4286 CDBP04285 Amiloride-sensitive sodium channel subunit delta P51172 SCNND_HUMAN false true Transporter Homo_sapiens SCNN1D 638 70214.2 7.9 Involved in ligand-gated sodium channel activity Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception ["None"] ["87-107", "531-551"] NM_002978.2 34101282 SCNN1D Chromosome:1 1p36.3-p36.2 SCNN1D HGNC:10601 true 2020-06-12T23:07:23Z 2020-07-28T02:32:14Z 0 0 0 4287 CDBP04286 Secreted frizzled-related protein 4 Q6FHJ7 SFRP4_HUMAN false false Enzyme Homo_sapiens SFRP4 346 39826.3 8.99 Involved in protein binding Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types. SFRP4 may act as a regulator of adult uterine morphology and function. Increases apoptosis during ovulation possibly through modulation of FZ1/FZ4/WNT4 signaling. Has phosphaturic effects by specifically inhibiting sodium-dependent phosphate uptake ["1-18"] ["None"] AF026692 2920804 SFRP4 Chromosome:7 7p14.1 SFRP4 HGNC:10778 true 2020-06-12T23:07:23Z 2020-07-28T02:34:14Z 0 0 0 4288 CDBP04287 Solute carrier family 10 member 6 Q3KNW5 SOAT_HUMAN false true Transporter Homo_sapiens SLC10A6 377 41258.2 7.91 Involved in bile acid:sodium symporter activity Transports sulfoconjugated steroid hormones, as well as taurolithocholic acid-3-sulfate and sulfoconjugated pyrenes in a sodium-dependent manner ["None"] ["30-50", "68-88", "98-118", "134-154", "160-180", "196-216", "227-247", "267-285", "291-311"] AJ583502 35208821 SLC10A6 Chromosome:4 4q21.3 SLC10A6 HGNC:30603 true 2020-06-12T23:07:23Z 2020-07-28T02:32:14Z 0 0 0 4289 CDBP04288 Sorbin and SH3 domain-containing protein 2 O94875 SRBS2_HUMAN false false Metal Binding Homo_sapiens SORBS2 1100 124106.3 8.42 Involved in zinc ion binding Adapter protein that plays a role in the assembling of signaling complexes, being a link between ABL kinases and actin cytoskeleton. Can form complex with ABL1 and CBL, thus promoting ubiquitination and degradation of ABL1 or with AKT1 and PAK1, thus mediating AKT1-mediated activation of PAK1. Isoform 6 increases water and sodium absorption in the intestine and gall-bladder ["None"] ["None"] NM_021069.4 10947118 SORBS2 Chromosome:4 4q35.1 SORBS2 HGNC:24098 true 2020-06-12T23:07:23Z 2020-07-28T02:32:05Z 0 1 0 4290 CDBP04289 Membrane transport protein XK P51811 XK_HUMAN false false Enzyme Homo_sapiens XK 444 50901.6 8.32 Involved in protein binding May be involved in sodium-dependent transport of neutral amino acids or oligopeptides ["None"] ["3-23", "38-58", "69-89", "141-161", "172-192", "209-229", "236-256", "278-298", "318-338", "350-370"] AY534238 46948351 XK XK HGNC:12811 true 2020-06-12T23:07:23Z 2020-07-28T02:34:14Z 0 0 0 4291 CDBP04290 Y+L amino acid transporter 2 Q92536 YLAT2_HUMAN false true Transporter Homo_sapiens SLC7A6 515 56826.9 5.69 Involved in transport Involved in the sodium-independent uptake of dibasic amino acids and sodium-dependent uptake of some neutral amino acids. Requires co-expression with SLC3A2/4F2hc to mediate the uptake of arginine, leucine and glutamine. Also acts as an arginine/glutamine exchanger, following an antiport mechanism for amino acid transport, influencing arginine release in exchange for extracellular amino acids. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Involved in the transport of L-arginine in monocytes. Reduces uptake of ornithine in retinal pigment epithelial (RPE) cells ["None"] ["45-65", "79-99", "115-135", "168-188", "195-215", "236-256", "267-287", "312-332", "364-384", "386-406", "426-446", "452-472"] BC028216 20381372 SLC7A6 Chromosome:1 16q22.1 SLC7A6 HGNC:11064 true 2020-06-12T23:07:23Z 2020-07-28T02:32:14Z 0 0 0 4292 CDBP04291 Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial Q96HY7 DHTK1_HUMAN true false Enzyme Homo_sapiens DHTKD1 919 103042.15 6.936 Involved in oxoglutarate dehydrogenase (succinyl-transferring) activity The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). It contains multiple copies of three enzymatic components: 2-oxoglutarate dehydrogenase (E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3) (By similarity). NM_018706.5 38788380 DHTKD1 10 10p14 DHTKD1 HGNC:23537 true hsa:55526 NP_061176.3:NM_018706.5 Thiamine pyrophosphate 2020-06-12T23:07:23Z 2020-06-12T23:07:23Z 0 0 0 4293 CDBP04292 2-oxoglutarate dehydrogenase-like, mitochondrial Q9ULD0 OGDHL_HUMAN true false Enzyme Homo_sapiens OGDHL 1010 Involved in oxoglutarate dehydrogenase (succinyl-transferring) activity NM_018245.2 221316661 OGDHL OGDHL HGNC:25590 true hsa:55753 NP_001137468.1:NM_001143996.1;NP_001137469.1:NM_001143997.1;NP_060715.2:NM_018245.2 Thiamine pyrophosphate 2020-06-12T23:07:23Z 2020-06-12T23:07:23Z 0 0 0 4294 CDBP04293 2-oxoglutarate receptor 1 Q96P68 OXGR1_HUMAN false false Receptor Homo_sapiens OXGR1 337 38250.6 8.23 Involved in G-protein coupled receptor protein signaling pathway Receptor for alpha-ketoglutarate. Seems to act exclusively through a G(q)-mediated pathway ["None"] ["35-55", "70-90", "117-137", "152-172", "202-222", "243-263", "285-305"] AB065877 21929019 OXGR1 Chromosome:1 13q32.1 OXGR1 HGNC:4531 true 2020-06-12T23:07:23Z 2020-07-28T02:29:37Z 1 0 0 4295 CDBP04294 Novel protein similar to 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (Hydroxymethylglutaricaciduria) Q9NT06 Q9NT06_HUMAN true false Enzyme Homo_sapiens DKFZp434G1411 157 16899.1 5.69 Involved in catalytic activity ["None"] ["None"] AL137605 6808353 DKFZp434G1411 DKFZp434G1411 HGNC:21359 true 2020-06-12T23:07:23Z 2020-06-12T23:07:23Z 0 0 0 4296 CDBP04295 Laminin subunit alpha-1 P25391 LAMA1_HUMAN false false Receptor Homo_sapiens LAMA1 3075 337080.9 6.31 Involved in cell adhesion Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components ["1-17"] ["None"] NM_005559.2 38788416 LAMA1 Chromosome:1 18p11.3 LAMA1 HGNC:6481 true 2020-06-12T23:07:23Z 2020-07-28T02:32:20Z 1 0 0 4297 CDBP04296 Histone deacetylase 2 Q92769 HDAC2_HUMAN true false Enzyme Homo_sapiens HDAC2 488 55363.9 5.75 Involved in histone deacetylase activity Forms transcriptional repressor complexes by associating with MAD, SIN3, YY1 and N-COR. Interacts in the late S-phase of DNA-replication with DNMT1 in the other transcriptional repressor complex composed of DNMT1, DMAP1, PCNA, CAF1. Deacetylates TSHZ3 and regulates its transcriptional repressor activity ["None"] ["None"] NM_001527.3 293336691 HDAC2 Chromosome:6 6q21 HDAC2 HGNC:4853 true 2020-06-12T23:07:23Z 2020-07-28T02:29:37Z 0 0 0 4298 CDBP04297 Histone deacetylase 3 O15379 HDAC3_HUMAN true false Enzyme Homo_sapiens HDAC3 428 48847.4 4.79 Involved in histone deacetylase activity Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Probably participates in the regulation of transcription through its binding to the zinc-finger transcription factor YY1; increases YY1 repression activity. Required to repress transcription of the POU1F1 transcription factor ["None"] ["None"] U66914 2326173 HDAC3 Chromosome:5 5q31 HDAC3 HGNC:4854 true 2020-06-12T23:07:24Z 2020-07-28T02:29:37Z 0 0 0 4299 CDBP04298 Histone deacetylase 5 Q9UQL6 HDAC5_HUMAN true false Enzyme Homo_sapiens HDAC5 1122 121976.9 6.19 Involved in histone deacetylase activity Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Involved in muscle maturation by repressing transcription of myocyte enhancer MEF2C. During muscle differentiation, it shuttles into the cytoplasm, allowing the expression of myocyte enhancer factors ["None"] ["None"] NM_005474.4 62750347 HDAC5 Chromosome:1 17q21 HDAC5 HGNC:14068 true 2020-06-12T23:07:24Z 2020-07-28T02:29:37Z 0 0 0 4300 CDBP04299 Solute carrier family 23 member 3 Q6PIS1 S23A3_HUMAN false true Transporter Homo_sapiens SLC23A3 610 64529.9 7.46 Involved in transporter activity ["None"] ["50-70", "86-106", "165-185", "188-208", "212-232", "267-287", "317-337", "356-376", "395-414", "424-446", "453-472", "487-507"] NM_001144889.1 222080105 SLC23A3 Chromosome:2 2q35 SLC23A3 HGNC:20601 true 2020-06-12T23:07:24Z 2020-07-28T02:32:14Z 0 0 0 4301 CDBP04300 Prolyl 4-hydroxylase subunit alpha-3 Q7Z4N8 P4HA3_HUMAN true false Enzyme Homo_sapiens P4HA3 544 61125.675 6.492 Involved in oxidoreductase activity Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins. AY313448 36962719 P4HA3 11 11q13.4 P4HA3 HGNC:30135 true hsa:283208 NP_878907.1:NM_182904.3 Highly expressed in placenta, liver and fetal skin. Weakly expressed in fetal epiphyseal cartilage, fetal liver, fibroblast, lung and skeletal muscle. Expressed also in fibrous cap of carotid atherosclerotic lesions. Fe(2+) ion;Ascorbate Heterotetramer of two alpha-3 chains and two beta chains (the beta chain is the multi-functional PDI) 2020-06-12T23:07:24Z 2020-07-28T02:29:37Z 0 1 0 4302 CDBP04301 HSD17B3 protein Q6FH62 Q6FH62_HUMAN true false Enzyme Homo_sapiens HSD17B3 310 34515.3 8.84 Involved in oxidoreductase activity ["None"] ["None"] AL160269 55661902 HSD17B3 Chromosome:9 9q22 HSD17B3 HGNC:5212 true 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4303 CDBP04302 Mutated cytochrome P-450c11 protein Q8TDD0 Q8TDD0_HUMAN true false Enzyme Homo_sapiens 503 57604.5 9.65 Involved in monooxygenase activity ["None"] ["None"] AF478474 19073433 HGNC:2591 true 2020-06-12T23:07:24Z 2020-07-28T02:29:37Z 0 1 0 4304 CDBP04303 Cytochrome P450, family 17, subfamily A, polypeptide 1 Q1HB44 Q1HB44_HUMAN true false Enzyme Homo_sapiens CYP17A1 508 57370.0 8.87 Involved in monooxygenase activity ["None"] ["None"] AK289898 158260819 CYP17A1 Chromosome:1 10q24.3 CYP17A1 HGNC:2593 true 2020-06-12T23:07:24Z 2020-07-28T02:29:37Z 0 1 0 4305 CDBP04304 Gastrotropin P51161 FABP6_HUMAN false true Transporter Homo_sapiens FABP6 128 14371.2 6.81 Involved in binding Ileal protein which stimulates gastric acid and pepsinogen secretion. Seems to be able to bind to bile salts and bilirubins. Isoform 2 is essential for the survival of colon cancer cells to bile acid-induced apoptosis ["None"] ["None"] 1O1V NM_001445.2 4557583 FABP6 Chromosome:5 5q33.3-q34 FABP6 HGNC:3561 true 2020-06-12T23:07:24Z 2020-07-28T02:32:14Z 0 0 0 4306 CDBP04305 Cytosolic phospholipase A2 beta P0C869 PA24B_HUMAN true false Enzyme Homo_sapiens PLA2G4B 781 87977.02 5.965 Involved in metabolic process Calcium-dependent phospholipase A2 that selectively hydrolyzes glycerophospholipids in the sn-2 position with a preference for arachidonoyl phospholipids. Has a much weaker activity than PLA2G4A. Isoform 3 has calcium-dependent activity against palmitoyl-arachidonyl-phosphatidylethanolamine and low level lysophospholipase activity but no activity against phosphatidylcholine. Isoform 5 does have activity against phosphatidylcholine. AK299419 194387976 PLA2G4B 15 15q11.2-q21.3 PLA2G4B HGNC:9036 true hsa:8681 NP_001108105.1:NM_001114633.1;NP_001185517.1:NM_001198588.1;NP_005081.1:NM_005090.3 Widely expressed. Expressed at higher level in brain, heart, liver, cerebellum and pancreas. Isoform 3 is widely expressed. 2020-06-12T23:07:24Z 2020-07-28T02:29:38Z 0 0 0 4307 CDBP04306 Glycine receptor subunit alpha-4 Q5JXX5 GLRA4_HUMAN false true Receptor Homo_sapiens GLRA4 417 47727.9 8.36 Involved in ion transport The glycine receptor is a neurotransmitter-gated ion channel. Binding of glycine to its receptor increases the chloride conductance and thus produces hyperpolarization (inhibition of neuronal firing) ["1-28"] ["259-279", "322-342"] AL049610 220732272 GLRA4 GLRA4 HGNC:31715 true 2020-06-12T23:07:24Z 2020-07-28T02:29:38Z 1 0 0 4308 CDBP04307 Rho-related GTP-binding protein RhoU Q7L0Q8 RHOU_HUMAN true false Enzyme Homo_sapiens RHOU 258 28218.0 8.14 Involved in GTP binding Acts upstream of PAK1 to regulate the actin cytoskeleton, adhesion turnover and increase cell migration. Stimulates quiescent cells to reenter the cell cycle. Has no detectable GTPase activity but its high intrinsic guanine nucleotide exchange activity suggests it is constitutively GTP- bound ["None"] ["None"] AF378087 RHOU Chromosome:1 1q42.11-q42.3 RHOU HGNC:17794 true 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4309 CDBP04308 Acyl-coenzyme A synthetase ACSM4, mitochondrial P0C7M7 ACSM4_HUMAN true false Enzyme Homo_sapiens ACSM4 580 65702.225 8.589 Involved in catalytic activity Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C(4) to C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4-unsaturated acids (in vitro) (By similarity). NM_001080454.1 122937307 ACSM4 12 12p13.31 ACSM4 HGNC:32016 true hsa:341392 NP_001073923.1:NM_001080454.1 Magnesium or manganese 2020-06-12T23:07:24Z 2020-07-28T02:29:38Z 0 1 0 4310 CDBP04309 Probable S-adenosyl-L-methionine-dependent methyltransferase METT5D2 P0C7V9 ME5D2_HUMAN true false Enzyme Homo_sapiens METT5D2 234 26715.3 5.84 Involved in methyltransferase activity Probable S-adenosyl-L-methionine-dependent methyltransferase ["None"] ["None"] METT5D2 Chromosome:3 3q25.31 METT5D2 HGNC:31926 true 2020-06-12T23:07:24Z 2020-07-28T02:29:38Z 0 0 0 4311 CDBP04310 Arylamine N-acetyltransferase Q400J6 Q400J6_HUMAN true false Enzyme Homo_sapiens NAT1 92 10628.1 5.58 Involved in acetyltransferase activity ["None"] ["None"] AJ581135 73759721 NAT1 Chromosome:8 8p22 NAT1 HGNC:7645 true 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4312 CDBP04311 Arylamine N-acetyltransferase 1 variant Q6U7I7 Q6U7I7_HUMAN true false Enzyme Homo_sapiens NAT1 270 31473.7 6.31 Involved in acetyltransferase activity ["None"] ["None"] AY376850 34555773 NAT1 Chromosome:8 8p22 NAT1 HGNC:7645 true 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4313 CDBP04312 Dipeptidase 2 Q9H4A9 DPEP2_HUMAN true false Enzyme Homo_sapiens DPEP2 486 53305.5 6.37 Involved in metalloexopeptidase activity Probable metalloprotease which hydrolyzes leukotriene D4 (LTD4) into leukotriene E4 (LTE4) ["1-32"] ["None"] NM_022355.2 11641269 DPEP2 Chromosome:1 16q22.1 DPEP2 HGNC:23028 true 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4314 CDBP04313 Beta-1,4-N-acetylgalactosaminyltransferase 3 Q6L9W6 B4GN3_HUMAN true false Enzyme Homo_sapiens B4GALNT3 998 114974.105 7.489 Involved in transferase activity, transferring hexosyl groups Transfers N-acetylgalactosamine (GalNAc) from UDP-GalNAc to N-acetylglucosamine-beta-benzyl with a beta-1,4-linkage to form N,N'-diacetyllactosediamine, GalNAc-beta-1,4-GlcNAc structures in N-linked glycans and probably O-linked glycans. Mediates the N,N'-diacetyllactosediamine formation on gastric mucosa. AB089940 38564141 B4GALNT3 12 12p13.33 B4GALNT3 HGNC:24137 true hsa:283358 NP_775864.3:NM_173593.3 Highly expressed in testis, colon and stomach. Weakly expressed in other tissues. 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4315 CDBP04314 Probable allantoicase Q8N6M5 ALLC_HUMAN true false Enzyme Homo_sapiens ALLC 410 43558.25 6.162 Involved in allantoicase activity The function of this enzyme is unclear as allantoicase activity is not known to exist in mammals. 144953901 ALLC 2 2q35 ALLC HGNC:17377 true hsa:55821 NP_060906.3:NM_018436.3 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4316 CDBP04315 Dolichol kinase Q9UPQ8 DOLK_HUMAN true false Enzyme Homo_sapiens DOLK 538 59267.055 8.602 Lipid transport and metabolism Involved in the synthesis of the sugar donor Dol-P-Man which is required in the synthesis of N-linked and O-linked oligosaccharides and for that of GPI anchors (By similarity). NM_014908.3 7662482 DOLK 9 9q34.11 DOLK HGNC:23406 true hsa:22845 NP_055723.1:NM_014908.3 Ubiquitous. 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4317 CDBP04316 Serine/threonine-protein phosphatase PGAM5, mitochondrial Q96HS1 PGAM5_HUMAN true false Enzyme Homo_sapiens PGAM5 289 32004.11 8.679 Involved in phosphoprotein phosphatase activity Displays phosphatase activity for serine/threonine residues, and, dephosphorylates and activates MAP3K5 kinase. Has apparently no phosphoglycerate mutase activity. May be regulator of mitochondrial dynamics. Substrate for a KEAP1-dependent ubiquitin ligase complex. Contributes to the repression of NFE2L2-dependent gene expression. Acts as a central mediator for programmed necrosis induced by TNF, by reactive oxygen species and by calcium ionophore. 3MXO;3O0T NM_001170543.1 281604136 PGAM5 12 12q24.33 PGAM5 HGNC:28763 true hsa:192111 NP_001164014.1:NM_001170543.1;NP_612642.2:NM_138575.3 Dimer. Forms a ternary complex with NFE2L2 and KEAP1. Interacts with BCL2L1 and MAP3K5. Upon TNF-induced necrosis, forms in complex with RIPK1, RIPK3 and MLKL; the formation of this complex leads to PGAM5 phosphorylation. Isoform 2, but not isoform 1, interacts with DNM1L; this interaction leads to DNM1L dephosphorylation and activation and eventually to mitochondria fragmentation 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4318 CDBP04317 Phosphoglycerate mutase A4D2J6 A4D2J6_HUMAN true false Enzyme Homo_sapiens PGAM2 252 28219.3 10.02 Involved in catalytic activity ["None"] ["None"] PGAM2 Chromosome:7 7p13-p12 PGAM2 HGNC:8889 true 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4319 CDBP04318 Putative neutral ceramidase C P0C7U2 ASA2C_HUMAN true false Enzyme Homo_sapiens ASAH2C 622 Involved in ceramidase activity May hydrolyze the sphingolipid ceramide into sphingosine and free fatty acid (By similarity). AL954360 55962226 ASAH2C ASAH2C HGNC:23457 true 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4320 CDBP04319 Alkaline ceramidase 2 Q5QJU3 ACER2_HUMAN true false Enzyme Homo_sapiens ACER2 275 31308.85 7.654 Involved in hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid. Unsaturated long-chain ceramides are the best substrates, saturated long-chain ceramides and unsaturated very long-chain ceramides are good substrates, whereas saturated very long-chain ceramides and short-chain ceramides were poor substrates. The substrate preference is D-erythro-C(18:1)-, C(20:1)-, C(20:4)-ceramide > D-erythro-C(16:0)-, C(18:0), C(20:0)-ceramide > D-erythro-C(24:1)-ceramide > D-erythro-C(12:0)-ceramide, D-erythro-C(14:0)-ceramides > D-erythro-C(24:0)-ceramide > D-erythro-C(6:0)-ceramide. Inhibits the maturation of protein glycosylation in the Golgi complex, including that of integrin beta-1 (ITGB1) and of LAMP1, by increasing the levels of sphingosine. Inhibits cell adhesion by reducing the level of ITGB1 in the cell surface. May have a role in cell proliferation and apoptosis that seems to depend on the balance between sphingosine and sphingosine-1-phosphate. AY312516 36304156 ACER2 9 9p22.1 ACER2 HGNC:23675 true hsa:340485 NP_001010887.2:NM_001010887.2 Highly expressed in placenta. 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4321 CDBP04320 Neutral ceramidase Q9NR71 ASAH2_HUMAN true false Enzyme Homo_sapiens ASAH2 780 19024.55 9.048 Involved in ceramidase activity Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid at an optimal pH of 6.5-8.5. Acts as a key regulator of sphingolipid signaling metabolites by generating sphingosine at the cell surface. Acts as a repressor of apoptosis both by reducing C16-ceramide, thereby preventing ceramide-induced apoptosis, and generating sphingosine, a precursor of the antiapoptotic factor sphingosine 1-phosphate. Probably involved in the digestion of dietary sphingolipids in intestine by acting as a key enzyme for the catabolism of dietary sphingolipids and regulating the levels of bioactive sphingolipid metabolites in the intestinal tract. AF449759 77862360 ASAH2 10 10q11.23 ASAH2 HGNC:18860 true hsa:653308 NP_001072984.1:NM_001079516.1;NP_001137446.1:NM_001143974.1;NP_063946.2:NM_019893.2 Primarily expressed in the intestine (PubMed:17334805). Ubiquitously expressed with higher levels in kidney, skeletal muscle and heart (PubMed:10781606). According to PubMed:17334805, ubiquitous expression attributed to ASAH2 may be actually that of the paralog ASAH2B. 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4322 CDBP04321 Dermatan-sulfate epimerase Q9UL01 DSE_HUMAN true false Enzyme Homo_sapiens DSE 958 109772.235 8.087 Involved in chondroitin-glucuronate 5-epimerase activity Converts D-glucuronic acid to L-iduronic acid (IdoUA) residues. AF098066 6002669 DSE 6 6q22 DSE HGNC:21144 true hsa:29940 HS03472-MONOMER NP_001074445.1:NM_001080976.1;NP_037484.1:NM_013352.2 Ubiquitously expressed with higher expression in kidney and ovary and lower expression in brain, colon and thymus. Also expressed in renal cell carcinomas, brain tumors, and in a part of melanomas and adenocarcinomas from organs other than the breast. Expressed in squamous cell carcinomas (SCC), glioma, and some adenocarcinoma cell lines, but not in breast cancer cell lines or any normal tissues (at protein level). 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4323 CDBP04322 D-glucuronyl C5-epimerase O94923 GLCE_HUMAN true false Enzyme Homo_sapiens GLCE 617 70100.5 9.32 Involved in racemase and epimerase activity, acting on carbohydrates and derivatives Converts D-glucuronic acid residues adjacent to N- sulfate sugar residues to L-iduronic acids ["None"] ["12-28"] NM_015554.1 51317380 GLCE Chromosome:1 15q23 GLCE HGNC:17855 true 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4324 CDBP04323 Thiosulfate sulfurtransferase/rhodanese-like domain-containing protein 1 Q8NFU3 TSTD1_HUMAN true false Enzyme Homo_sapiens TSTD1 115 12530.1 5.91 Inorganic ion transport and metabolism Possible role in tumorgenesis ["None"] ["None"] AF439442 21636046 TSTD1 Chromosome:1 1q23.3 TSTD1 HGNC:35410 true 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4325 CDBP04324 Non-lysosomal glucosylceramidase Q9HCG7 GBA2_HUMAN true false Enzyme Homo_sapiens GBA2 927 104648.13 5.919 Involved in catalytic activity Non-lysosomal glucosylceramidase that catalyzes the conversion of glucosylceramide to free glucose and ceramide. Involved in sphingomyelin generation and prevention of glycolipid accumulation. May also catalyze the hydrolysis of bile acid 3-O-glucosides, however, the relevance of such activity is unclear in vivo. NM_020944.2 24308251 GBA2 9 9p13.3 GBA2 HGNC:18986 true hsa:57704 NP_065995.1:NM_020944.2 Widely expressed. Highly expressed in brain, heart, skeletal muscle, kidney and placenta and expressed at lower level in liver. 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4326 CDBP04325 Queuine tRNA-ribosyltransferase subunit QTRTD1 Q9H974 QTRD1_HUMAN true false Enzyme Homo_sapiens QTRTD1 415 48203.07 6.617 Involved in queuine tRNA-ribosyltransferase activity Interacts with QTRT1 to form an active queuine tRNA-ribosyltransferase. This enzyme exchanges queuine for the guanine at the wobble position of tRNAs with GU(N) anticodons (tRNA-Asp, -Asn, -His and -Tyr), thereby forming the hypermodified nucleoside queuosine (Q) (7-(((4,5-cis-dihydroxy-2-cyclopenten-1-yl)amino)methyl)-7-deazaguanosine) (By similarity). NM_024638.2 13375872 QTRTD1 3 3q13.31 QTRTD1 HGNC:25771 true hsa:79691 NP_001243764.1:NM_001256835.1;NP_001243765.1:NM_001256836.1;NP_001243766.1:NM_001256837.1;NP_078914.1:NM_024638.3 zinc ion Interacts with QTRT1 2020-06-12T23:07:24Z 2020-07-28T02:29:38Z 0 1 0 4327 CDBP04326 14-3-3 protein beta/alpha P31946 1433B_HUMAN true false Enzyme Homo_sapiens YWHAB 246 28082.2 4.47 Involved in protein domain specific binding Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathway. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. Negative regulator of osteogenesis ["None"] ["None"] AK292717 158258871 YWHAB Chromosome:2 20q13.1 YWHAB HGNC:12849 true 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4328 CDBP04327 14-3-3 protein gamma P61981 1433G_HUMAN true false Enzyme Homo_sapiens YWHAG 247 28302.3 4.52 Involved in protein domain specific binding Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathway. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner ["None"] ["None"] AB024334 6016838 YWHAG Chromosome:7 7q11.23 YWHAG HGNC:12852 true 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4329 CDBP04328 N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 1 Q76KP1 B4GN4_HUMAN true false Enzyme Homo_sapiens B4GALNT4 1039 116512.09 6.975 Involved in transferase activity, transferring hexosyl groups Transfers N-acetylgalactosamine (GalNAc) from UDP-GalNAc to N-acetylglucosamine-beta-benzyl with a beta-1,4-linkage to form N,N'-diacetyllactosediamine, GalNAc-beta-1,4-GlcNAc structures in N-linked glycans and probably O-linked glycans. AB089939 40645106 B4GALNT4 11 11p15.5 B4GALNT4 HGNC:26315 true hsa:338707 NP_848632.2:NM_178537.4 Highly expressed in ovary, adult and fetal brain. Also expressed in fetal kidney and lung. 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4330 CDBP04329 Aflatoxin B1 aldehyde reductase member 3 O95154 ARK73_HUMAN true false Enzyme Homo_sapiens AKR7A3 331 37206.1 7.16 Involved in oxidoreductase activity Can reduce the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. May be involved in protection of liver against the toxic and carcinogenic effects of AFB1, a potent hepatocarcinogen ["None"] ["None"] AF040639 4104867 AKR7A3 Chromosome:1 1p36.13 AKR7A3 HGNC:390 true 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4331 CDBP04330 Aflatoxin B1 aldehyde reductase member 4 Q8NHP1 ARK74_HUMAN true false Enzyme Homo_sapiens AKR7L 331 36963.5 6.75 Involved in oxidoreductase activity Can reduce the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. May be involved in protection of liver against the toxic and carcinogenic effects of AFB1, a potent hepatocarcinogen ["None"] ["None"] NM_201252.3 223718702 AKR7L Chromosome:1 1p36.13|1p35-p36.1 AKR7L HGNC:24056 true 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4332 CDBP04331 Ferrochelatase Q53FU1 Q53FU1_HUMAN true false Enzyme Homo_sapiens 420 47488.3 8.53 Involved in ferrochelatase activity Catalyzes the ferrous insertion into protoporphyrin IX ["None"] ["None"] 1HRK AK223190 62897941 HGNC:3647 true 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4333 CDBP04332 A-kinase anchor protein 10, mitochondrial O43572 AKA10_HUMAN true false Enzyme Homo_sapiens AKAP10 662 73817.5 6.35 Involved in signal transducer activity Differentially targeted protein that binds to type I and II regulatory subunits of protein kinase A and anchors them to the mitochondria or the plasma membrane. Although the physiological relevance between PKA and AKAPS with mitochondria is not fully understood, one idea is that BAD, a proapoptotic member, is phosphorylated and inactivated by mitochondria-anchored PKA. It cannot be excluded too that it may facilitate PKA as well as G protein signal transduction, by acting as an adapter for assembling multiprotein complexes. With its RGS domain, it could lead to the interaction to G-alpha proteins, providing a link between the signaling machinery and the downstream kinase ["None"] ["None"] AF037439 2707344 AKAP10 Chromosome:1 17p11.1 AKAP10 HGNC:368 true 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4334 CDBP04333 Methionine-R-sulfoxide reductase B2, mitochondrial Q9Y3D2 MSRB2_HUMAN true false Enzyme Homo_sapiens MSRB2 182 19536.055 8.634 Involved in peptide-methionine-(S)-S-oxide reductase activity Catalyzes the reduction of free and protein-bound methionine sulfoxide to methionine (By similarity). Upon oxidative stress, may play a role in the preservation of mitochondrial integrity by decreasing the intracellular reactive oxygen species build-up through its scavenging role, hence contributing to cell survival and protein maintenance. AF122004 5059062 MSRB2 10 10p12 MSRB2 HGNC:17061 true hsa:22921 NP_036360.3:NM_012228.3 Ubiquitous. Detected in retina, ocular ciliary body, skeletal muscle, heart, colon, bone marrow, cerebellum, small intestine, fetal brain, fetal liver, kidney, spinal cord, lung, placenta and prostate. zinc ion 2020-06-12T23:07:24Z 2020-07-28T02:29:39Z 0 1 1 4335 CDBP04334 Methionine-R-sulfoxide reductase B3 Q8IXL7 MSRB3_HUMAN true false Enzyme Homo_sapiens MSRB3 185 20010.23 7.152 Involved in peptide-methionine-(S)-S-oxide reductase activity Catalyzes the reduction of free and protein-bound methionine sulfoxide to methionine. Isoform 2 is essential for hearing. AK293084 158259629 MSRB3 12 12q14.3 MSRB3 HGNC:27375 true hsa:253827 NP_001026849.1:NM_001031679.2;NP_001180389.1:NM_001193460.1;NP_001180390.1:NM_001193461.1;NP_932346.1:NM_198080.3 Widely expressed. zinc ion Monomer 2020-06-12T23:07:24Z 2020-07-28T02:29:39Z 0 1 0 4336 CDBP04335 Lysine-specific demethylase 2A Q9Y2K7 KDM2A_HUMAN true false Enzyme Homo_sapiens KDM2A 1162 81677.13 8.752 Involved in DNA binding Histone demethylase that specifically demethylates 'Lys-36' of histone H3, thereby playing a central role in histone code. Preferentially demethylates dimethylated H3 'Lys-36' residue while it has weak or no activity for mono- and tri-methylated H3 'Lys-36'. May also recognize and bind to some phosphorylated proteins and promote their ubiquitination and degradation. Required to maintain the heterochromatic state. Associates with centromeres and represses transcription of small non-coding RNAs that are encoded by the clusters of satellite repeats at the centromere. Required to sustain centromeric integrity and genomic stability, particularly during mitosis. 2YU1;2YU2;4BBQ NM_012308.2 16306580 KDM2A 11 11q13.2 KDM2A HGNC:13606 true hsa:22992 NP_001243334.1:NM_001256405.1;NP_036440.1:NM_012308.2 Widely expressed, with highest levels in brain, testis and ovary, followed by lung. Fe(2+) ion Part of a SCF (SKP1-cullin-F-box) protein ligase complex . Interacts with CBX5/HP1A; the interaction promotes CBX5 localization to chromatin 2020-06-12T23:07:24Z 2020-07-28T02:29:39Z 0 1 1 4337 CDBP04336 Lysine-specific demethylase 2B Q8NHM5 KDM2B_HUMAN true false Enzyme Homo_sapiens KDM2B 1336 144767.43 8.415 Involved in DNA binding Histone demethylase that demethylates 'Lys-4' and 'Lys-36' of histone H3, thereby playing a central role in histone code. Preferentially demethylates trimethylated H3 'Lys-4' and dimethylated H3 'Lys-36' residue while it has weak or no activity for mono- and tri-methylated H3 'Lys-36'. Preferentially binds the transcribed region of ribosomal RNA and represses the transcription of ribosomal RNA genes which inhibits cell growth and proliferation. May also serve as a substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. NM_032590.4 54112382 KDM2B 12 12q24.31 KDM2B HGNC:13610 true hsa:84678 NP_001005366.1:NM_001005366.1;NP_115979.3:NM_032590.4 Fe(2+) ion Directly interacts with SKP1 and CUL1 2020-06-12T23:07:24Z 2020-07-28T02:29:39Z 0 1 1 4338 CDBP04337 Putative Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase Q5I7T1 AG10B_HUMAN true false Enzyme Homo_sapiens ALG10B 473 55433.33 9.19 Involved in transferase activity, transferring hexosyl groups Putative alpha-1,2-glucosyltransferase, which adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc(2)Man(9)GlcNAc(2)-PP-Dol. When coupled to KCNH2 may reduce KCNH2 sensitivity to classic proarrhythmic drug blockade, possibly by mediating glycosylation of KCNH2. NM_001013620.3 61966697 ALG10B 12 12q12 ALG10B HGNC:31088 true hsa:144245 NP_001013642.1:NM_001013620.3 Highly expressed in heart, placenta, liver, kidney and pancreas. Weakly expressed in lung, skeletal muscle and brain. Interacts with KCNH1 and KCNH2 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4339 CDBP04338 Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase Q9Y672 ALG6_HUMAN true false Enzyme Homo_sapiens ALG6 507 58119.89 8.455 Involved in transferase activity, transferring hexosyl groups Adds the first glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Man(9)GlcNAc(2)-PP-Dol. AF102851 5281124 ALG6 1 1p31.3 ALG6 HGNC:23157 true hsa:29929 NP_037471.2:NM_013339.3 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4340 CDBP04339 Polyprenol reductase Q9H8P0 PORED_HUMAN true false Enzyme Homo_sapiens SRD5A3 318 36521.005 9.391 Involved in oxidoreductase activity, acting on the CH-CH group of donors Plays a key role in early steps of protein N-linked glycosylation by being required for the conversion of polyprenol into dolichol. Dolichols are required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-glycosylation. Acts as a polyprenol reductase that promotes the reduction of the alpha-isoprene unit of polyprenols into dolichols in a NADP-dependent mechanism. Also able to convert testosterone (T) into 5-alpha-dihydrotestosterone (DHT). NM_024592.3 13375785 SRD5A3 4 4q12 SRD5A3 HGNC:25812 true hsa:79644 HS13249-MONOMER NP_078868.1:NM_024592.4 Overexpressed in hormone-refractory prostate cancers (HRPC). Almost no or little expression in normal adult organs. 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4341 CDBP04340 Glucose 1,6-bisphosphate synthase Q6PCE3 PGM2L_HUMAN true false Enzyme Homo_sapiens PGM2L1 622 70441.085 7.152 Involved in intramolecular transferase activity, phosphotransferases Glucose 1,6-bisphosphate synthase using 1,3-bisphosphoglycerate as a phosphate donor and a series of 1-phosphate sugars as acceptors, including glucose 1-phosphate, mannose 1-phosphate, ribose 1-phosphate and deoxyribose 1-phosphate. 5 or 6-phosphosugars are bad substrates, with the exception of glucose 6-phosphate. Also synthesizes ribose 1,5-bisphosphate. Has only low phosphopentomutase and phosphoglucomutase activities. AB019210 5688958 PGM2L1 11 11q13.4 PGM2L1 HGNC:20898 true hsa:283209 NP_775853.2:NM_173582.3 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4342 CDBP04341 Fructosamine-3-kinase Q9H479 FN3K_HUMAN true false Enzyme Homo_sapiens FN3K 309 35170.9 7.64 Carbohydrate transport and metabolism May initiate a process leading to the deglycation of fructoselysine and of glycated proteins. May play a role in the phosphorylation of 1-deoxy-1-morpholinofructose (DMF), fructoselysine, fructoseglycine, fructose and glycated lysozyme ["None"] ["None"] AJ404615 11191737 FN3K Chromosome:1 17q25.3 FN3K HGNC:24822 true 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4343 CDBP04342 Ketosamine-3-kinase Q9HA64 KT3K_HUMAN true false Enzyme Homo_sapiens FN3KRP 309 34412.0 7.36 Carbohydrate transport and metabolism Phosphorylates psicosamines and ribulosamines, but not fructosamines, on the third carbon of the sugar moiety. Protein- bound psicosamine 3-phosphates and ribulosamine 3-phosphates are unstable and decompose under physiological conditions. Thus phosphorylation leads to deglycation ["None"] ["None"] AK022233 10433586 FN3KRP Chromosome:1 17q25.3 FN3KRP HGNC:25700 true 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4344 CDBP04343 G/T mismatch-specific thymine DNA glycosylase Q13569 TDG_HUMAN true false Enzyme Homo_sapiens TDG 410 46053.0 6.79 Involved in hydrolase activity, hydrolyzing N-glycosyl compounds In the DNA of higher eukaryotes, hydrolytic deamination of 5-methylcytosine to thymine leads to the formation of G/T mismatches. This enzyme corrects G/T mispairs to G/C pairs. It is capable of hydrolyzing the carbon-nitrogen bond between the sugar- phosphate backbone of the DNA and a mispaired thymine. In addition to the G/T, it can remove thymine also from C/T and T/T mispairs in the order G/T >> C/T > T/T. It has no detectable activity on apyrimidinic sites and does not catalyze the removal of thymine from A/T pairs or from single-stranded DNA. It can also remove uracil and 5-bromouracil from mispairs with guanine ["None"] ["None"] AF545435 23267188 TDG Chromosome:1 12q24.1 TDG HGNC:11700 true 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4345 CDBP04344 Deoxyhypusine hydroxylase Q9BU89 DOHH_HUMAN true false Enzyme Homo_sapiens DOHH 302 32903.885 4.822 Involved in binding Catalyzes the hydroxylation of the N(6)-(4-aminobutyl)-L-lysine intermediate to form hypusine, an essential post-translational modification only found in mature eIF-5A factor. NM_001145165.1 223633884 DOHH 19 19p13.3 DOHH HGNC:28662 true hsa:83475 HS05318-MONOMER NP_001138637.1:NM_001145165.1;NP_112594.1:NM_031304.4 Fe(2+) ions 2020-06-12T23:07:24Z 2020-07-28T02:29:39Z 0 1 0 4346 CDBP04345 Putative tRNA pseudouridine synthase Pus10 Q3MIT2 PUS10_HUMAN true false Enzyme Homo_sapiens PUS10 529 60243.7 6.51 Involved in RNA binding Pseudouridylate synthases catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and splicing RNAs. PUS10 catalyzes the formation of the universal psi55 in the GC loop of transfer RNAs (Probable). Modulator of TRAIL-induced cell death via activation of procaspase 8 and BID cleavage. Required for the progression of the apoptotic signal through intrinsic mitochondrial cell death ["None"] ["None"] AK056874 16552394 PUS10 Chromosome:2 2p16.1 PUS10 HGNC:26505 true 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4347 CDBP04346 tRNA pseudouridine synthase 3 Q9BZE2 PUS3_HUMAN true false Enzyme Homo_sapiens PUS3 481 55647.0 7.53 Involved in RNA binding Formation of pseudouridine at position 39 in the anticodon stem and loop of transfer RNAs ["None"] ["None"] AF325689 12276176 PUS3 Chromosome:1 11q24.2 PUS3 HGNC:25461 true 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4348 CDBP04347 Pseudouridylate synthase 7 homolog Q96PZ0 PUS7_HUMAN true false Enzyme Homo_sapiens PUS7 661 75034.9 6.31 Involved in RNA binding tRNA uridine = tRNA pseudouridine ["None"] ["None"] NM_019042.3 50727002 PUS7 Chromosome:7 7q22.3 PUS7 HGNC:26033 true 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4349 CDBP04348 Pseudouridylate synthase 7 homolog-like protein Q9H0K6 PUS7L_HUMAN true false Enzyme Homo_sapiens PUS7L 701 80699.9 7.61 Involved in RNA binding tRNA uridine = tRNA pseudouridine ["None"] ["None"] AL136759 12053035 PUS7L Chromosome:1 12q12 PUS7L HGNC:25276 true 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4350 CDBP04349 RNA pseudouridylate synthase domain-containing protein 1 Q9UJJ7 RUSD1_HUMAN true false Enzyme Homo_sapiens RPUSD1 312 34755.2 7.06 Involved in RNA binding ["None"] ["None"] NM_058192.2 17158025 RPUSD1 Chromosome:1 16p13.3 RPUSD1 HGNC:14173 true 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4351 CDBP04350 RNA pseudouridylate synthase domain-containing protein 2 Q8IZ73 RUSD2_HUMAN true false Enzyme Homo_sapiens RPUSD2 545 61311.0 7.18 Involved in RNA binding ["None"] ["None"] AK055971 16550833 RPUSD2 Chromosome:1 15q13.3 RPUSD2 HGNC:24180 true 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4352 CDBP04351 RNA pseudouridylate synthase domain-containing protein 3 Q6P087 RUSD3_HUMAN true false Enzyme Homo_sapiens RPUSD3 351 38460.4 10.95 Involved in RNA binding ["None"] ["None"] NM_173659.3 216548145 RPUSD3 Chromosome:3 3p25.3 RPUSD3 HGNC:28437 true 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4353 CDBP04352 RNA pseudouridylate synthase domain-containing protein 4 Q96CM3 RUSD4_HUMAN true false Enzyme Homo_sapiens RPUSD4 377 42204.9 10.53 Involved in RNA binding ["None"] ["None"] AK027400 14042050 RPUSD4 Chromosome:1 11q24.2 RPUSD4 HGNC:25898 true 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4354 CDBP04353 Probable tRNA pseudouridine synthase 1 Q8WWH5 TRUB1_HUMAN true false Enzyme Homo_sapiens TRUB1 349 37252.4 8.45 Involved in RNA processing May be responsible for synthesis of pseudouridine from uracil in transfer RNAs ["None"] ["None"] AF448144 17484109 TRUB1 Chromosome:1 10q25.3 TRUB1 HGNC:16060 true 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4355 CDBP04354 Probable tRNA pseudouridine synthase 2 O95900 TRUB2_HUMAN true false Enzyme Homo_sapiens TRUB2 331 36694.1 9.36 Involved in RNA processing May be responsible for synthesis of pseudouridine from uracil in transfer RNAs ["None"] ["None"] AF131848 4406691 TRUB2 Chromosome:9 9q34.11 TRUB2 HGNC:17170 true 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4356 CDBP04355 Transcription initiation factor TFIID subunit 4 O00268 TAF4_HUMAN true false Enzyme Homo_sapiens TAF4 1085 110113.3 10.64 Involved in DNA binding Makes part of TFIID is a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. Potentiates transcriptional activation by the AF-2S of the retinoic acid, vitamin D3 and thyroid hormone ["None"] ["None"] 1H3O AL109911 56204142 TAF4 Chromosome:2 20q13.33 TAF4 HGNC:11537 true 2020-06-12T23:07:24Z 2020-07-28T02:29:40Z 0 0 1 4357 CDBP04356 NADPH oxidase organizer 1 Q8NFA2 NOXO1_HUMAN true false Enzyme Homo_sapiens NOXO1 376 41252.3 10.23 Involved in protein binding Constitutively potentiates the superoxide-generating activity of NOX1 and NOX3 and is required for the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity. Isoform 3 is more potent than isoform 1 in activating NOX3. Together with NOXA1, may also substitute to NCF1/p47phox and NCF2/p67phox in supporting the phagocyte NOX2/gp91phox superoxide-generating activity ["None"] ["None"] NM_172168.1 41281828 NOXO1 Chromosome:1 16p13.3 NOXO1 HGNC:19404 true 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4358 CDBP04357 Disintegrin and metalloproteinase domain-containing protein 9 Q13443 ADAM9_HUMAN true false Enzyme Homo_sapiens ADAM9 819 90555.3 7.55 Involved in metalloendopeptidase activity Probable zinc protease. May mediate cell-cell or cell- matrix interactions. Isoform 2 displays alpha-secretase activity for APP ["1-28"] ["698-718"] U41766 ADAM9 Chromosome:8 8p11.22 ADAM9 HGNC:216 true 2020-06-12T23:07:24Z 2020-07-28T02:29:40Z 0 1 0 4359 CDBP04358 ATP synthase subunit epsilon-like protein, mitochondrial Q5VTU8 AT5EL_HUMAN true true Enzyme Homo_sapiens ATP5EP2 51 5806.8 10.79 Involved in hydrogen ion transporting ATP synthase activity, rotational mechanism Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(1) domain and of the central stalk which is part of the complex rotary element. Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits ["None"] ["None"] 1E79 AL591024 55665865 ATP5EP2 Chromosome:1 13q12 ATP5EP2 HGNC:34026 true 2020-06-12T23:07:24Z 2020-07-28T02:29:40Z 0 0 0 4360 CDBP04359 Transmembrane O-methyltransferase Q8WZ04 TOMT_HUMAN true false Enzyme Homo_sapiens LRTOMT 291 32154.43 9.082 Involved in O-methyltransferase activity Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones (By similarity). Required for auditory function. NM_001145308.1 223718159 LRTOMT 11 11q13.4 LRTOMT HGNC:25033 true hsa:220074 NP_001138780.1:NM_001145308.4;NP_001138781.1:NM_001145309.3;NP_001138782.1:NM_001145310.3 2020-06-12T23:07:24Z 2020-07-28T02:29:40Z 1 0 0 4361 CDBP04360 3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial Q9NWU1 OXSM_HUMAN true false Enzyme Homo_sapiens OXSM 459 40034.535 7.89 Involved in catalytic activity May play a role in the biosynthesis of lipoic acid as well as longer chain fatty acids required for optimal mitochondrial function. 2C9H;2IWY;2IWZ AK000611 7020821 OXSM 3 3p24.2 OXSM HGNC:26063 true hsa:54995 NP_001138863.1:NM_001145391.1;NP_060367.1:NM_017897.2 Widely expressed. Higher expression in heart, skeletal muscle, liver and kidney which contain high levels of active mitochondria. 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4362 CDBP04361 Egl nine homolog 1 Q9GZT9 EGLN1_HUMAN true false Enzyme Homo_sapiens EGLN1 426 46020.585 8.534 Involved in oxidoreductase activity Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates a specific proline found in each of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A. Also hydroxylates HIF2A. Has a preference for the CODD site for both HIF1A and HIF1B. Hydroxylated HIFs are then targeted for proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Under hypoxic conditions, the hydroxylation reaction is attenuated allowing HIFs to escape degradation resulting in their translocation to the nucleus, heterodimerization with HIF1B, and increased expression of hypoxy-inducible genes. EGLN1 is the most important isozyme under normoxia and, through regulating the stability of HIF1, involved in various hypoxia-influenced processes such as angiogenesis in retinal and cardiac functionality. 2G19;2G1M;2HBT;2HBU;2Y33;2Y34;3HQR;3HQU;3OUH;3OUI;3OUJ AF229245 EGLN1 1 1q42.1 EGLN1 HGNC:1232 true hsa:54583 NP_071334.1:NM_022051.2 According to PubMed:11056053, widely expressed with highest levels in skeletal muscle and heart, moderate levels in pancreas, brain (dopaminergic neurons of adult and fetal substantia nigra) and kidney, and lower levels in lung and liver. According to PubMed:12351678 widely expressed with highest levels in brain, kidney and adrenal gland. Expressed in cardiac myocytes, aortic endothelial cells and coronary artery smooth muscle. According to PubMed:12788921; expressed in adult and fetal heart, brain, liver, lung, skeletal muscle and kidney. Also expressed in placenta. Highest levels in adult heart, brain, lung and liver and fetal brain, heart spleen and skeletal muscle. Fe(2+) ion;Ascorbate Monomer. Interacts with ING4; the interaction inhibits the hydroxylation of HIFs. Interacts with LIMD1. Found in a complex composed of LIMD1, VHL, EGLN1/PHD2, TCEB2 AND CUL2. Interacts with EPAS1 2020-06-12T23:07:24Z 2020-07-28T02:29:40Z 0 1 1 4363 CDBP04362 Egl nine homolog 2 Q96KS0 EGLN2_HUMAN true false Enzyme Homo_sapiens EGLN2 407 43650.03 7.908 Involved in oxidoreductase activity Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates a specific proline found in each of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A. Also hydroxylates HIF2A. Has a preference for the CODD site for both HIF1A and HIF2A. Hydroxylated HIFs are then targeted for proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Under hypoxic conditions, the hydroxylation reaction is attenuated allowing HIFs to escape degradation resulting in their translocation to the nucleus, heterodimerization with HIF1B, and increased expression of hypoxy-inducible genes. EGLN2 is involved in regulating hypoxia tolerance and apoptosis in cardiac and skeletal muscle. Also regulates susceptibility to normoxic oxidative neuronal death. AJ310544 14547148 EGLN2 19 19q13.2 EGLN2 HGNC:14660 true hsa:112398 ENSG00000171570-MONOMER NP_444274.1:NM_053046.3;NP_542770.2:NM_080732.3 Expressed in adult and fetal heart, brain, liver, lung, skeletal muscle, and kidney. Also expressed in testis and placenta. Highest levels in adult brain, placenta, lung, kidney, and testis. Expressed in hormone responsive tissues, including normal and cancerous mammary, ovarian and prostate epithelium. Fe(2+) ion;Ascorbate Interacts (preferably isoform p40) with SIAH2; the interaction targets both SIAH2 isoforms for proteasomal degradation in vitro. Interacts with LIMD1, WTIP and AJUBA 2020-06-12T23:07:24Z 2020-07-28T02:29:40Z 1 1 1 4364 CDBP04363 Egl nine homolog 3 Q9H6Z9 EGLN3_HUMAN true false Enzyme Homo_sapiens EGLN3 239 27261.06 7.636 Involved in oxidoreductase activity Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates a specific proline found in each of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A. Also hydroxylates HIF2A. Has a preference for the CODD site for both HIF1A and HIF2A. Hydroxylation on the NODD site by EGLN3 appears to require prior hydroxylation on the CODD site. Hydroxylated HIFs are then targeted for proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Under hypoxic conditions, the hydroxylation reaction is attenuated allowing HIFs to escape degradation resulting in their translocation to the nucleus, heterodimerization with HIF1B, and increased expression of hypoxy-inducible genes. EGLN3 is the most important isozyme in limiting physiological activation of HIFs (particularly HIF2A) in hypoxia. Also hydroxylates PKM in hypoxia, limiting glycolysis. Under normoxia, hydroxylates and regulates the stability of ADRB2. Regulator of cardiomyocyte and neuronal apoptosis. In cardiomyocytes, inhibits the anti-apoptotic effect of BCL2 by disrupting the BAX-BCL2 complex. In neurons, has a NGF-induced proapoptotic effect, probably through regulating CASP3 activity. Also essential for hypoxic regulation of neutrophilic inflammation. Plays a crucial role in DNA damage response (DDR) by hydroxylating TELO2, promoting its interaction with ATR which is required for activation of the ATR/CHK1/p53 pathway. AJ310545 14547150 EGLN3 14 14q13.1 EGLN3 HGNC:14661 true hsa:112399 NP_071356.1:NM_022073.3 Widely expressed at low levels. Expressed at higher levels in adult heart (cardiac myocytes, aortic endothelial cells and coronary artery smooth muscle), lung and placenta, and in fetal spleen, heart and skeletal muscle. Also expressed in pancreas. Localized to pancreatic acini and islet cells. Fe(2+) ion;Ascorbate Interacts with WDR83; the interaction leads to almost complete elimination of HIF-mediated reporter activity . Interacts with BCL2 (via its BH4 domain); the interaction disrupts the BAX-BCL4 complex inhibiting the anti-apoptotic activity of BCL2. Interacts with ADRB2; the interaction hydroxylates ADRB2 facilitating its ubiquitination by the VHL-E3 ligase complex. Interacts with PAX2; the interaction targets PAX2 for destruction. Interacts with PKM; the interaction hydroxylates PKM in hypoxia 2020-06-12T23:07:24Z 2020-07-28T02:29:40Z 0 1 1 4365 CDBP04364 Transmembrane prolyl 4-hydroxylase Q9NXG6 P4HTM_HUMAN true false Enzyme Homo_sapiens P4HTM 502 63111.98 6.102 Involved in calcium ion binding Catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates HIF1A at 'Pro-402' and 'Pro-564'. May function as a cellular oxygen sensor and, under normoxic conditions, may target HIF through the hydroxylation for proteasomal degradation via the von Hippel-Lindau ubiquitination complex. NM_177939.2 29570771 P4HTM 3 3p21.3 P4HTM HGNC:28858 true hsa:54681 NP_808807.2:NM_177938.2;NP_808808.1:NM_177939.2 Widely expressed with highest levels in adult pancreas, heart, skeletal muscle, brain, placenta, kidney and adrenal gland. Expressed at lower levels in epiphyseal cartilage and in fibroblasts. Fe(2+) ion;Ascorbate Homodimer 2020-06-12T23:07:24Z 2020-07-28T02:29:40Z 0 1 0 4366 CDBP04365 Beta-1,4 N-acetylgalactosaminyltransferase 2 Q8NHY0 B4GN2_HUMAN true false Enzyme Homo_sapiens B4GALNT2 566 63257.6 8.72 Involved in transferase activity, transferring hexosyl groups Involved in the synthesis of the Sd(a) antigen (Sia- alpha2,3-[GalNAc-beta1,4]Gal-beta1,4-GlcNAc), a carbohydrate determinant expressed on erythrocytes, the colonic mucosa and other tissues. Transfers a beta-1,4-linked GalNAc to the galactose residue of an alpha-2,3-sialylated chain ["None"] ["68-88"] NM_153446.2 227497754 B4GALNT2 Chromosome:1 17q21.32 B4GALNT2 HGNC:24136 true 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4367 CDBP04366 N-acetylated-alpha-linked acidic dipeptidase-like protein Q9UQQ1 NALDL_HUMAN true false Enzyme Homo_sapiens NAALADL1 740 80566.9 5.14 Involved in peptidase activity NAALADase-like activity unknown. Has no NAAG hydrolyzing activity. Exhibits a dipeptidyl-peptidase IV type activity. In vitro, cleaves Gly-Pro-AMC ["None"] ["7-28"] NM_005468.2 57232740 NAALADL1 Chromosome:1 11q12 NAALADL1 HGNC:23536 true 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4368 CDBP04367 Cytosolic 5'-nucleotidase III-like protein Q969T7 5NT3L_HUMAN true false Enzyme Homo_sapiens NT5C3L 292 Involved in magnesium ion binding Can act both as nucleotidase and as phosphotransferase (By similarity). BC013742 54035066 NT5C3L NT5C3L HGNC:28300 true 2020-06-12T23:07:24Z 2020-07-28T02:29:40Z 0 1 0 4369 CDBP04368 Probable gluconokinase Q5T6J7 GNTK_HUMAN true false Enzyme Homo_sapiens IDNK 187 20577.63 6.207 Involved in shikimate kinase activity AL354920 55958667 C9orf103 9 9q21.32 C9orf103 HGNC:31367 true hsa:414328 NP_001001551.2:NM_001001551.3;NP_001243844.1:NM_001256915.1 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4370 CDBP04369 Very-long-chain enoyl-CoA reductase Q9NZ01 TECR_HUMAN true false Enzyme Homo_sapiens TECR 308 36034.065 9.445 Involved in oxidoreductase activity, acting on the CH-CH group of donors Reduces trans-2,3-stearoyl-CoA to stearoyl-CoA of long and very long chain fatty acids. 2DZJ AF038958 3329386 TECR 19 19p13.12 TECR HGNC:4551 true hsa:9524 NP_612510.1:NM_138501.5 Expressed in most tissues tested. Highly expressed in skeletal muscle. Interacts with ELOVL1 and LASS2 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4371 CDBP04370 Endoplasmic reticulum aminopeptidase 1 Q9NZ08 ERAP1_HUMAN true false Enzyme Homo_sapiens ERAP1 941 107233.9 6.43 Involved in proteolysis Aminopeptidase that plays a central role in peptide trimming, a step required for the generation of most HLA class I- binding peptides. Peptide trimming is essential to customize longer precursor peptides to fit them to the correct length required for presentation on MHC class I molecules. Strongly prefers substrates 9-16 residues long. Rapidly degrades 13-mer to a 9-mer and then stops. Preferentially hydrolyzes the residue Leu and peptides with a hydrophobic C-terminus, while it has weak activity toward peptides with charged C-terminus. May play a role in the inactivation of peptide hormones. May be involved in the regulation of blood pressure through the inactivation of angiotensin II and/or the generation of bradykinin in the kidney ["None"] ["2-21"] NM_001040458.1 94818891 ERAP1 Chromosome:5 5q15 ERAP1 HGNC:18173 true 2020-06-12T23:07:24Z 2020-07-28T02:29:41Z 0 1 0 4372 CDBP04371 Neurolysin, mitochondrial Q9BYT8 NEUL_HUMAN true false Enzyme Homo_sapiens NLN 704 80651.1 6.62 Involved in metalloendopeptidase activity Hydrolyzes oligopeptides such as neurotensin, bradykinin and dynorphin A ["None"] ["None"] 1I1I AB033052 20521802 NLN Chromosome:5 5q12.3 NLN HGNC:16058 true 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4373 CDBP04372 Dehydrodolichyl diphosphate synthase Q86SQ9 DHDDS_HUMAN true false Enzyme Homo_sapiens DHDDS 333 Involved in transferase activity, transferring alkyl or aryl (other than methyl) groups Catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier-lipid required for the biosynthesis of several classes of glycoprotein. AB090852 28557344 DHDDS DHDDS HGNC:20603 true hsa:79947 NP_001230493.1:NM_001243564.1;NP_001230494.1:NM_001243565.1;NP_079163.2:NM_024887.3;NP_995583.1:NM_205861.2 Expressed at high levels in testis and kidney. Expressed in epididymis (at protein level). Slightly expressed in heart, spleen and thymus. Interacts with NUS1/NgBR, the interaction is required for efficient activity. Interacts with NPC2 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4374 CDBP04373 Nogo-B receptor Q96E22 NGBR_HUMAN true false Enzyme Homo_sapiens NUS1 293 33224.0 8.57 Involved in transferase activity, transferring alkyl or aryl (other than methyl) groups Acts as a specific receptor for the N-terminus of Nogo- B, a neural and cardiovascular regulator. Able to regulate vascular remodeling and angiogenesis. Its similarity with UPP synthase proteins suggests that it may act as a scaffold for the binding of isoprenyl lipids and/or prenylated proteins ["1-23"] ["117-135"] AL590303 55665703 NUS1 Chromosome:6 6q22.1 NUS1 HGNC:21042 true 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4375 CDBP04374 Dihydrouridine synthase 4-like (S. cerevisiae), isoform CRA_c A4D0R5 A4D0R5_HUMAN true false Enzyme Homo_sapiens PP35 317 35816.2 7.37 Involved in catalytic activity ["None"] ["None"] NM_181581.1 31742496 PP35 PP35 HGNC:21517 true 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4376 CDBP04375 Aminopeptidase O Q8N6M6 AMPO_HUMAN true false Enzyme Homo_sapiens AOPEP 819 93571.6 6.13 Involved in binding Aminopeptidases catalyze the hydrolysis of amino acid residues from the N-terminus of peptide or protein substrates. Able to cleave angiotensin III to generate angiotensin IV, a bioactive peptide of the renin-angiotensin pathway. Not able to cleave angiotensin I and angiotensin II. May play a role in the proteolytic processing of bioactive peptides in tissues such as testis and heart ["None"] ["None"] AJ560639 58737696 AOPEP AOPEP HGNC:1361 true 2020-06-12T23:07:24Z 2020-07-28T02:29:41Z 0 1 0 4377 CDBP04376 Fatty-acid amide hydrolase 2 Q6GMR7 FAAH2_HUMAN true false Enzyme Homo_sapiens FAAH2 532 58303.115 9.077 Involved in carbon-nitrogen ligase activity, with glutamine as amido-N-donor Degrades bioactive fatty acid amides like oleamide, the endogenous cannabinoid, anandamide and myristic amide to their corresponding acids, thereby serving to terminate the signaling functions of these molecules. Hydrolyzes monounsaturated substrate anandamide preferentially as compared to polyunsaturated substrates. AK055766 16550576 FAAH2 X Xp11.21 FAAH2 HGNC:26440 true hsa:158584 NP_777572.2:NM_174912.3 Highly expressed in the brain, small intestine and testis. Also expressed in the heart, kidney, liver, lung and prostate. Homodimer 2020-06-12T23:07:24Z 2020-06-12T23:07:24Z 0 0 0 4378 CDBP04377 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 Q7Z7M8 B3GN8_HUMAN true false Enzyme Homo_sapiens B3GNT8 397 43395.4 8.4 Involved in galactosyltransferase activity Beta-1,3-N-acetylglucosaminyltransferase that plays a role in the elongation of specific branch structures of multiantennary N-glycans. Has strong activity towards tetraantennary N-glycans and 2,6 triantennary glycans ["None"] ["7-23"] AB175895 57207880 B3GNT8 Chromosome:1 19q13.2 B3GNT8 HGNC:24139 true 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4379 CDBP04378 HCG2039726, isoform CRA_f Q5DT02 Q5DT02_HUMAN true false Enzyme Homo_sapiens UGT1A10 530 59809.1 7.31 Involved in transferase activity, transferring hexosyl groups ["None"] ["None"] AY435137 40849852 UGT1A10 Chromosome:2 2q37 UGT1A10 HGNC:12531 true 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4380 CDBP04379 HCG2039726, isoform CRA_e Q5DSZ6 Q5DSZ6_HUMAN true false Enzyme Homo_sapiens UGT1A8 530 59741.0 7.73 Involved in transferase activity, transferring hexosyl groups ["None"] ["None"] AY435143 40849864 UGT1A8 Chromosome:2 2q37 UGT1A8 HGNC:12540 true 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4381 CDBP04380 UDP glycosyltransferase 1 family polypeptide A7 Q5DSZ7 Q5DSZ7_HUMAN true false Enzyme Homo_sapiens UGT1A7 530 59818.3 7.85 Involved in transferase activity, transferring hexosyl groups ["None"] ["None"] AY435142 40849862 UGT1A7 Chromosome:2 2q37 UGT1A7 HGNC:12539 true 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4382 CDBP04381 Thymidine kinase Q8IZR3 Q8IZR3_HUMAN true false Enzyme Homo_sapiens 307 35439.6 10.07 Involved in ATP binding ["None"] ["None"] AF521891 25167087 HGNC:11831 true 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4383 CDBP04382 Cytochrome P450, family 21, subfamily A, polypeptide 2 Q08AG9 Q08AG9_HUMAN true false Enzyme Homo_sapiens CYP21A2 495 55972.9 7.68 Involved in monooxygenase activity ["None"] ["None"] BC125181 115528435 CYP21A2 Chromosome:6 6p21.3 CYP21A2 HGNC:2600 true 2020-06-12T23:07:25Z 2020-07-28T02:29:41Z 0 1 0 4384 CDBP04383 Probable threonine--tRNA ligase 2, cytoplasmic A2RTX5 SYTC2_HUMAN true false Enzyme Homo_sapiens TARSL2 802 92644.755 6.054 Involved in nucleotide binding NM_152334.2 38570111 TARSL2 15 15q26.3 TARSL2 HGNC:24728 true hsa:123283 NP_689547.2:NM_152334.2 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4385 CDBP04384 Threonine--tRNA ligase, mitochondrial Q9BW92 SYTM_HUMAN true false Enzyme Homo_sapiens TARS2 718 81035.345 7.299 Involved in nucleotide binding AK222814 62897187 TARS2 1 1q21.3 TARS2 HGNC:30740 true hsa:80222 NP_079426.2:NM_025150.4 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4386 CDBP04385 Methionine--tRNA ligase, mitochondrial Q96GW9 SYMM_HUMAN true false Enzyme Homo_sapiens MARS2 593 66590.29 8.087 Involved in nucleotide binding AB107013 37196758 MARS2 2 2q33.1 MARS2 HGNC:25133 true hsa:92935 NP_612404.1:NM_138395.3 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4387 CDBP04386 Aspartate--tRNA ligase, mitochondrial Q6PI48 SYDM_HUMAN true false Enzyme Homo_sapiens DARS2 645 73562.02 8.011 Involved in nucleotide binding 4AH6 BC045173 34783643 DARS2 1 1q25.1 DARS2 HGNC:25538 true hsa:55157 NP_060592.2:NM_018122.4 Homodimer 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4388 CDBP04387 Cysteine--tRNA ligase, cytoplasmic P49589 Q5HYE4_HUMAN true false Enzyme Homo_sapiens CARS 831 94636.8 6.833 Involved in nucleotide binding AK302644 194380236 DKFZp686F1612 11 11p15.5 DKFZp686F1612 HGNC:1493 true hsa:833 NP_001014437.1:NM_001014437.2;NP_001742.1:NM_001751.5;NP_644802.1:NM_139273.3 zinc ion Monomer 2020-06-12T23:07:25Z 2020-07-28T02:29:42Z 0 1 0 4389 CDBP04388 FARSLA protein Q6IBR2 Q6IBR2_HUMAN true false Enzyme Homo_sapiens FARSLA 508 57563.2 7.96 Involved in nucleotide binding ["None"] ["None"] AK092093 193787275 FARSLA FARSLA HGNC:3592 true 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4390 CDBP04389 Probable asparagine--tRNA ligase, mitochondrial Q96I59 SYNM_HUMAN true false Enzyme Homo_sapiens NARS2 477 54089.64 7.242 Involved in nucleotide binding BC007800 39644781 NARS2 11 11q14.1 NARS2 HGNC:26274 true hsa:79731 NP_078954.4:NM_024678.5 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4391 CDBP04390 SUMO-activating enzyme subunit 2 Q9UBT2 SAE2_HUMAN true false Enzyme Homo_sapiens UBA2 640 71222.9 4.91 Involved in catalytic activity The heterodimer acts as a E1 ligase for SUMO1, SUMO2, SUMO3, and probably SUMO4. It mediates ATP-dependent activation of SUMO proteins followed by formation of a thioester bond between a SUMO protein and a conserved active site cysteine residue on UBA2/SAE2 ["None"] ["None"] 1Y8R NM_005499.2 4885649 UBA2 Chromosome:1 19q12 UBA2 HGNC:30661 true 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4392 CDBP04391 E3 ubiquitin-protein ligase HUWE1 Q7Z6Z7 HUWE1_HUMAN true false Enzyme Homo_sapiens HUWE1 4374 481885.7 4.87 Involved in binding E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of target proteins. Regulates apoptosis by catalyzing the polyubiquitination and degradation of MCL1. Also ubiquitinates the p53 tumor suppressor and core histones including H1, H2A, H2B, H3 and H4. Binds to an upstream initiator-like sequence in the preprodynorphin gene. Regulates neural differentiation and proliferation by catalyzing the polyubiquitination and degradation of MYCN. May regulate abundance of CDC6 after DNA damage by polyubiquitinating and targeting CDC6 to degradation ["None"] ["None"] NM_031407.4 61676188 HUWE1 HUWE1 HGNC:30892 true 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4393 CDBP04392 E3 ubiquitin-protein ligase Topors Q9NS56 TOPRS_HUMAN true false Enzyme Homo_sapiens TOPORS 1045 119196.4 9.99 Involved in protein binding Functions as an E3 ubiquitin-protein ligase and as an E3 SUMO1-protein ligase. Probable tumor suppressor involved in cell growth, cell proliferation and apoptosis that regulates TP53 stability through ubiquitin-dependent degradation. May regulate chromatin modification through sumoylation of several chromatin modification-associated proteins. May be involved in DNA damage- induced cell death through IKBKE sumoylation ["None"] ["None"] AB045732 9664146 TOPORS Chromosome:9 9p21 TOPORS HGNC:21653 true 2020-06-12T23:07:25Z 2020-07-28T02:29:42Z 0 1 0 4394 CDBP04393 STIP1 homology and U-box containing protein 1 (STIP1 homology and U- box containing protein 1, isoform CRA_c) Q9UNE7 A2IDB9_HUMAN true false Enzyme Homo_sapiens STUB1 303 34857.0 5.68 ["None"] ["None"] Z92544 123238982 A2IDB9 Chromosome:16 16p13.3 true 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4395 CDBP04394 Ubiquitin conjugation factor E4 B O95155 UBE4B_HUMAN true false Enzyme Homo_sapiens UBE4B 1302 146183.2 6.52 Involved in protein binding Binds to the ubiquitin moieties of preformed conjugates and catalyzes ubiquitin chain assembly in conjunction with E1, E2, and E3 ["None"] ["None"] NM_001105562.2 157739864 UBE4B Chromosome:1 1p36.3 UBE4B HGNC:12500 true 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4396 CDBP04395 Membrane-associated ring finger (C3HC4) 6 (Membrane-associated ring finger (C3HC4) 6, isoform CRA_a) O60337 A5PKZ4_HUMAN true false Enzyme Homo_sapiens MARCH6 910 102547.0 6.25 ["None"] ["None"] BC142679 148745657 A5PKZ4 true 2020-06-12T23:07:25Z 2020-07-28T02:29:42Z 0 1 0 4397 CDBP04396 TGIF-interacting ubiquitin ligase 1 Q9H0M0 Q5YLC1_HUMAN true false Enzyme Homo_sapiens 922 105201.0 5.71 Involved in acid-amino acid ligase activity ["None"] ["None"] 1ND7 AY345857 33590476 HGNC:17004 true 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4398 CDBP04397 NEDD4-like E3 ubiquitin-protein ligase WWP2 O00308 WWP2_HUMAN true false Enzyme Homo_sapiens WWP2 870 98911.4 7.13 Involved in acid-amino acid ligase activity E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Polyubiquitinates POU5F1 by 'Lys-63'-linked conjugation and promotes it to proteasomal degradation; in embryonic stem cells (ESCs) the ubiquitination is proposed to regulate POU5F1 protein level. Ubiquitinates EGR2 and promotes it to proteasomal degradation; in T-cells the ubiquitination inhibits activation- induced cell death. Ubiquitinates SLC11A2; the ubiquitination is enhanced by presence of NDFIP1 and NDFIP2. Ubiquitinates RPB1 and promotes it to proteasomal degradation ["None"] ["None"] NM_007014.3 40806207 WWP2 Chromosome:1 16q22.1 WWP2 HGNC:16804 true 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4399 CDBP04398 E3 ubiquitin-protein ligase MARCH3 Q86UD3 MARH3_HUMAN true false Enzyme Homo_sapiens MARCH3 253 28503.7 8.26 Involved in zinc ion binding E3 ubiquitin-protein ligase which may be involved in endosomal trafficking. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates ["None"] ["145-165", "182-202"] AK290129 158261281 MARCH3 Chromosome:5 5q23.2 MARCH3 HGNC:28728 true 2020-06-12T23:07:25Z 2020-07-28T02:29:42Z 0 1 0 4400 CDBP04399 NEDD8-conjugating enzyme UBE2F Q969M7 UBE2F_HUMAN true false Enzyme Homo_sapiens UBE2F 185 21076.79 6.785 Involved in acid-amino acid ligase activity Accepts the ubiquitin-like protein NEDD8 from the UBA3-NAE1 E1 complex and catalyzes its covalent attachment to other proteins. The specific interaction with the E3 ubiquitin ligase RBX2, but not RBX1, suggests that the RBX2-UBE2F complex neddylates specific target proteins, such as CUL5. 2EDI;3FN1;4GBA AC016776 62988833 UBE2F 2 2q37.3 UBE2F HGNC:12480 true hsa:140739 NP_542409.1:NM_080678.2 Widely expressed (at protein level). Interacts with UBA3 and RBX2 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4401 CDBP04400 Ubiquitin-conjugating enzyme E2 U Q5VVX9 UBE2U_HUMAN true false Enzyme Homo_sapiens UBE2U 321 26688.485 7.887 Involved in acid-amino acid ligase activity Catalyzes the covalent attachment of ubiquitin to other proteins (By similarity). 1YRV AL161916 56205233 UBE2U 1 1p31.3 UBE2U HGNC:28559 true hsa:148581 NP_689702.1:NM_152489.1 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4402 CDBP04401 Probable E3 ubiquitin-protein ligase MARCH10 Q8NA82 MARHA_HUMAN true false Enzyme Homo_sapiens MARCH10 808 90510.2 6.69 Involved in zinc ion binding E3 ubiquitin-protein ligase (Probable). E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates ["None"] ["None"] NM_001100875.1 154937342 MARCH10 Chromosome:1 17q23.2 MARCH10 HGNC:26655 true 2020-06-12T23:07:25Z 2020-07-28T02:29:43Z 0 1 0 4403 CDBP04402 E3 ubiquitin-protein ligase UBR1 Q8IWV7 UBR1_HUMAN true false Enzyme Homo_sapiens UBR1 1749 200208.8 5.91 Involved in protein catabolic process E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. May be involved in pancreatic homeostasis. Binds leucine and is a negative regulator of the leucine-mTOR signaling pathway, thereby controlling cell growth ["None"] ["None"] NM_174916.2 28372497 UBR1 Chromosome:1 15q13 UBR1 HGNC:16808 true 2020-06-12T23:07:25Z 2020-07-28T02:29:43Z 0 1 0 4404 CDBP04403 E3 ubiquitin-protein ligase MARCH8 Q5T0T0 MARH8_HUMAN true false Enzyme Homo_sapiens MARCH8 291 32964.6 7.9 Involved in zinc ion binding E3 ubiquitin-protein ligase that mediates ubiquitination of CD86 and MHC class II proteins, such as HLA-DR alpha and beta, and promotes their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. May also promote ubiquitination and endocytosis of TFRC and FAS ["None"] ["157-177", "197-217"] AK313340 189053877 MARCH8 Chromosome:1 10q11.21 MARCH8 HGNC:23356 true 2020-06-12T23:07:25Z 2020-07-28T02:29:43Z 0 1 0 4405 CDBP04404 E3 ubiquitin-protein ligase ZNRF2 Q8NHG8 ZNRF2_HUMAN true false Enzyme Homo_sapiens ZNRF2 242 24114.5 7.11 Involved in protein binding May play a role in the establisment and maintenance of neuronal transmission and plasticity via its ubiquitin ligase activity. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates ["None"] ["None"] AF513707 33324891 ZNRF2 Chromosome:7 7p14.3 ZNRF2 HGNC:22316 true 2020-06-12T23:07:25Z 2020-07-28T02:29:43Z 0 1 0 4406 CDBP04405 E3 ubiquitin-protein ligase TRIM32 Q13049 TRI32_HUMAN true false Enzyme Homo_sapiens TRIM32 653 71987.9 6.98 Involved in zinc ion binding Has an E3 ubiquitin ligase activity. Ubiquitinates DTNBP1 (dysbindin) and promotes its degradation. May play a significant role in mediating the biological activity of the HIV-1 Tat protein in vivo. Binds specifically to the activation domain of HIV-1 Tat and can also interact with the HIV-2 and EIAV Tat proteins in vivo ["None"] ["None"] AL133284 8217434 TRIM32 Chromosome:9 9q33.1 TRIM32 HGNC:16380 true 2020-06-12T23:07:25Z 2020-07-28T02:29:43Z 0 1 0 4407 CDBP04406 Probable E3 ubiquitin-protein ligase MYCBP2 O75592 MYCB2_HUMAN true false Enzyme Homo_sapiens MYCBP2 4640 510079.5 7.03 Involved in protein binding Probable E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of target proteins. May function as a facilitator or regulator of transcriptional activation by MYC. May have a role during synaptogenesis ["None"] ["None"] NM_015057 291190787 MYCBP2 Chromosome:1 13q22 MYCBP2 HGNC:23386 true 2020-06-12T23:07:25Z 2020-07-28T02:29:43Z 0 1 0 4408 CDBP04407 E3 ubiquitin-protein ligase MGRN1 O60291 MGRN1_HUMAN true false Enzyme Homo_sapiens MGRN1 552 60752.2 4.77 Involved in protein binding E3 ubiquitin-protein ligase. Mediates monoubiquitination at multiple sites of TSG101 in the presence of UBE2D1, but not of UBE2G1, nor UBE2H. Plays a role in the regulation of endosome-to- lysosome trafficking. Impairs MC1R- and MC4R-signaling by competing with GNAS-binding to MCRs and inhibiting agonist-induced cAMP production. Does not inhibit ADRB2-signaling. Does not promote MC1R ubiquitination ["None"] ["None"] NM_001142290.1 214010236 MGRN1 Chromosome:1 16p13.3 MGRN1 HGNC:20254 true 2020-06-12T23:07:25Z 2020-07-28T02:29:43Z 0 1 0 4409 CDBP04408 E3 ubiquitin-protein ligase UBR2 Q8IWV8 UBR2_HUMAN true false Enzyme Homo_sapiens UBR2 1755 200536.4 6.19 Involved in protein catabolic process E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. Plays a critical role in chromatin inactivation and chromosome-wide transcriptional silencing during meiosis via ubiquitination of histone H2A. Binds leucine and is a negative regulator of the leucine-mTOR signaling pathway, thereby controlling cell growth ["None"] ["None"] NM_015255.2 27597061 UBR2 Chromosome:6 6p21.1 UBR2 HGNC:21289 true 2020-06-12T23:07:25Z 2020-07-28T02:29:43Z 0 1 0 4410 CDBP04409 E3 ubiquitin-protein ligase UBR4 Q5T4S7 UBR4_HUMAN true false Enzyme Homo_sapiens UBR4 5183 573835.3 5.91 Involved in ubiquitin-protein ligase activity E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. Together with clathrin, forms meshwork structures involved in membrane morphogenesis and cytoskeletal organization. Regulates integrin-mediated signaling. May play a role in activation of FAK in response to cell-matrix interactions ["None"] ["850-870", "993-1013"] NM_020765.2 82659109 UBR4 Chromosome:1 1p36.13 UBR4 HGNC:30313 true 2020-06-12T23:07:25Z 2020-07-28T02:29:43Z 0 1 0 4411 CDBP04410 E3 ubiquitin-protein ligase AMFR Q9UKV5 AMFR2_HUMAN true false Enzyme Homo_sapiens AMFR 643 72995.1 6.36 Involved in protein binding E3 ubiquitin-protein ligase which can target both itself and other proteins including CD3D and APOB for proteasomal degradation. Mediates polyubiquitination of CYP3A4. Specific receptor for the autocrine motility factor. Mediates tumor invasion and metastasis. Component of a complex required to couple deglycosylation and proteasome-mediated degradation of misfolded proteins in the endoplasmic reticulun that are retrotranslocated in the cytosol. Promotes ubiquitination of misfolded proteins such as mutant CFTR; proposed to mediate sequential ubiquitination by recognizing already ubiquitin-conjugated substrates and to cooperate with E3 ubiquitin-protein ligase RNF5 ["None"] ["82-102", "122-142", "145-165", "186-206", "215-235", "276-296", "429-449"] AF124145 5931955 AMFR Chromosome:1 16q21 AMFR HGNC:463 true 2020-06-12T23:07:25Z 2020-07-28T02:29:43Z 0 1 0 4412 CDBP04411 Ubiquitin-conjugating enzyme E2 S Q16763 UBE2S_HUMAN true false Enzyme Homo_sapiens UBE2S 222 23845.075 8.378 Involved in acid-amino acid ligase activity Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. Catalyzes 'Lys-11'-linked polyubiquitination. Acts as an essential factor of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated ubiquitin ligase that controls progression through mitosis. Acts by specifically elongating 'Lys-11'-linked polyubiquitin chains initiated by the E2 enzyme UBE2C/UBCH10 on APC/C substrates, enhancing the degradation of APC/C substrates by the proteasome and promoting mitotic exit. Also acts by elongating ubiquitin chains initiated by the E2 enzyme UBE2D1/UBCH5 in vitro; it is however unclear whether UBE2D1/UBCH5 acts as a E2 enzyme for the APC/C in vivo. Also involved in ubiquitination and subsequent degradation of VHL, resulting in an accumulation of HIF1A. In vitro able to promote polyubiquitination using all 7 ubiquitin Lys residues, except 'Lys-48'-linked polyubiquitination. 1ZDN AB062397 21104428 UBE2S 19 19q13.43 UBE2S HGNC:17895 true hsa:27338 NP_055316.2:NM_014501.2 Component of the APC/C complex. Interacts with CDC20, FZR1/CDH1 and VHL 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4413 CDBP04412 Pre-mRNA-processing factor 19 Q9UMS4 PRP19_HUMAN true false Enzyme Homo_sapiens PRPF19 504 55180.3 6.6 Involved in ubiquitin-protein ligase activity Plays a role in DNA double-strand break (DSB) repair and pre-mRNA splicing reaction. Binds double-stranded DNA in a sequence-nonspecific manner. Acts as a structural component of the nuclear framework. May also serve as a support for spliceosome binding and activity. Essential for spliceosome assembly in a oligomerization-dependent manner and might also be important for spliceosome stability. May have E3 ubiquitin ligase activity. The PSO4 complex is required in the DNA interstrand cross-links (ICLs) repair process. Overexpression of PRPF19 might extend the cellular life span by increasing the resistance to stress or by improving the DNA repair capacity of the cells ["None"] ["None"] AJ131186 5689738 PRPF19 Chromosome:1 11q12.2 PRPF19 HGNC:17896 true 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4414 CDBP04413 Myosin regulatory light chain interacting protein (Myosin regulatory light chain interacting protein, isoform CRA_a) Q8WY64 Q5TIA4_HUMAN true false Enzyme Homo_sapiens MYLIP 445 49911.0 7.25 ["None"] ["None"] AL021407 56202482 Q5TIA4 MYLIP HGNC:21155 true 2020-06-12T23:07:25Z 2020-07-28T02:29:43Z 0 1 0 4415 CDBP04414 HNP95 Q96T88 A0JBR2_HUMAN true false Enzyme Homo_sapiens hNp95 793 89813.2 7.59 Involved in zinc ion binding ["None"] ["None"] AB177623 117939141 hNp95 hNp95 HGNC:12556 true 2020-06-12T23:07:25Z 2020-07-28T02:29:44Z 0 1 0 4416 CDBP04415 Putative ubiquitin-conjugating enzyme E2 N-like Q5JXB2 UE2NL_HUMAN true false Enzyme Homo_sapiens UBE2NL 153 17376.8 5.73 Involved in acid-amino acid ligase activity ["None"] ["None"] AL109622 6941766 UBE2NL UBE2NL HGNC:31710 true 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4417 CDBP04416 Midline-1 O15344 TRI18_HUMAN true false Enzyme Homo_sapiens MID1 667 75249.9 6.79 Involved in zinc ion binding May have E3 ubiquitin ligase activity which targets the catalytic subunit of protein phosphatase 2 for degradation ["None"] ["None"] AF035360 2827994 MID1 MID1 HGNC:7095 true 2020-06-12T23:07:25Z 2020-07-28T02:29:44Z 0 1 0 4418 CDBP04417 E3 ubiquitin-protein ligase NEDD4 P46934 NEDD4_HUMAN true false Enzyme Homo_sapiens NEDD4 1319 149058.1 6.51 Involved in acid-amino acid ligase activity E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Involved in the pathway leading to the degradation of VEGFR- 2/KDFR, independently of its ubiquitin-ligase activity. Monoubiquitinates IGF1R at multiple sites, thus leading to receptor internalization and degradation in lysosomes. Polyubiquitinates the tumor suppressor PTEN and thus targets PTEN for proteasomal degradation. Regulates tumorigenesis in a PTEN- dependent manner. Is involved in ubiquitination of ERBB4 intracellular domain E4ICD. Involved in the budding of many viruses ["None"] ["None"] BC136605 223460872 NEDD4 Chromosome:1 15q NEDD4 HGNC:7727 true 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4419 CDBP04418 CCR4-NOT transcription complex subunit 4 O95628 CNOT4_HUMAN true false Enzyme Homo_sapiens CNOT4 575 63509.5 7.04 Involved in nucleotide binding Has E3 ubiquitin ligase activity. The CCR4-NOT complex functions as general transcription regulation complex ["None"] ["None"] 1E4U NM_001190848.1 300069013 CNOT4 Chromosome:7 7q22-qter CNOT4 HGNC:7880 true 2020-06-12T23:07:25Z 2020-07-28T02:29:44Z 0 1 0 4420 CDBP04419 E3 ubiquitin-protein ligase MARCH2 Q9P0N8 MARH2_HUMAN true false Enzyme Homo_sapiens MARCH2 246 26994.9 7.52 Involved in zinc ion binding E3 ubiquitin-protein ligase that may mediate ubiquitination of TFRC and CD86, and promote their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin- conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. May be involved in endosomal trafficking through interaction with STX6 ["None"] ["138-158", "175-195"] AB197929 58652038 MARCH2 Chromosome:1 19p13.2 MARCH2 HGNC:28038 true 2020-06-12T23:07:25Z 2020-07-28T02:29:44Z 0 1 0 4421 CDBP04420 E3 ubiquitin-protein ligase UBR5 O95071 UBR5_HUMAN true false Enzyme Homo_sapiens UBR5 2799 309349.2 5.63 Involved in acid-amino acid ligase activity E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific amino-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. May be involved in maturation and/or transcriptional regulation of mRNA. May play a role in control of cell cycle progression. May have tumor suppressor function. Regulates DNA topoisomerase II binding protein (TopBP1) in the DNA damage response. Plays an essential role in extraembryonic development ["None"] ["None"] 1I2T NM_015902.4 15147337 UBR5 Chromosome:8 8q22 UBR5 HGNC:16806 true 2020-06-12T23:07:25Z 2020-07-28T02:29:44Z 0 1 0 4422 CDBP04421 E3 ubiquitin-protein ligase TRIM33 Q9UPN9 TRI33_HUMAN true false Enzyme Homo_sapiens TRIM33 1127 122520.2 6.65 Involved in zinc ion binding Acts as an E3 ubiquitin-protein ligase. Promotes SMAD4 ubiquitination, nuclear exclusion and degradation via the ubiquitin proteasome pathway. According to PubMed:16751102, does not promote a decrease in the level of endogenous SMAD4. May act as a transcriptional repressor. Inhibits the transcriptional response to TGF-beta/BMP signaling cascade. Plays a role in the control of cell proliferation. Its association with SMAD2 and SMAD3 stimulates erythroid differentiation of hematopoietic stem/progenitor. Monoubiquitinates SMAD4 and acts as an inhibitor of SMAD4-dependent TGF-beta/BMP signaling cascade (Monoubiquitination of SMAD4 hampers its ability to form a stable complex with activated SMAD2/3 resulting in inhibition of TGF- beta/BMP signaling cascade) ["None"] ["None"] NM_015906.3 74027249 TRIM33 Chromosome:1 1p13.1 TRIM33 HGNC:16290 true 2020-06-12T23:07:25Z 2020-07-28T02:29:44Z 0 1 0 4423 CDBP04422 E3 ubiquitin-protein ligase MARCH5 Q9NX47 MARH5_HUMAN true false Enzyme Homo_sapiens MARCH5 278 31231.4 8.83 Involved in zinc ion binding Mitochondrial E3 ubiquitin-protein ligase that plays a crucial role in the control of mitochondrial morphology by acting as a positive regulator of mitochondrial fission. May play a role in the prevention of cell senescence acting as a regulator of mitochondrial quality control. Promotes ubiquitination of FIS1, DNM1L and MFN1 ["None"] ["99-119", "139-159", "209-229", "238-258"] AB191202 110796914 MARCH5 Chromosome:1 10q23.32-q23.33 MARCH5 HGNC:26025 true 2020-06-12T23:07:25Z 2020-07-28T02:29:44Z 0 1 0 4424 CDBP04423 Ubiquitin-conjugating enzyme E2 R2 Q712K3 UB2R2_HUMAN true false Enzyme Homo_sapiens UBE2R2 238 27165.725 4.418 Involved in acid-amino acid ligase activity Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes monoubiquitination and 'Lys-48'-linked polyubiquitination. May be involved in degradation of katenin. AJ240087 17645997 UBE2R2 9 9p13.3 UBE2R2 HGNC:19907 true hsa:54926 NP_060281.2:NM_017811.3 When phosphorylated, interacts with beta-TrCP (BTRC) 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4425 CDBP04424 E3 ubiquitin-protein ligase MARCH1 Q8TCQ1 MARH1_HUMAN true false Enzyme Homo_sapiens MARCH1 289 32307.9 8.44 Involved in zinc ion binding E3 ubiquitin-protein ligase that mediates ubiquitination of TFRC, CD86, FAS and MHC class II proteins, such as HLA-DR alpha and beta, and promotes their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. By constitutively ubiquitinating MHC class II proteins in immature dendritic cells, downregulates their cell surface localization thus sequestering them in the intracellular endosomal system ["None"] ["155-175", "197-217"] NM_001166373.1 261823980 MARCH1 Chromosome:4 4q32.2 MARCH1 HGNC:26077 true 2020-06-12T23:07:25Z 2020-07-28T02:29:44Z 0 1 0 4426 CDBP04425 E3 ubiquitin-protein ligase FANCL Q9NW38 FANCL_HUMAN true false Enzyme Homo_sapiens FANCL 375 42904.2 6.42 Involved in protein binding Ubiquitin ligase protein that mediates ubiquitination of FANCD2, a key step in the DNA damage pathway. May be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth ["None"] ["None"] AC007250 62822472 FANCL Chromosome:2 2p16.1 FANCL HGNC:20748 true 2020-06-12T23:07:25Z 2020-07-28T02:29:44Z 0 1 0 4427 CDBP04426 Ubiquitin-like modifier-activating enzyme 6 A0AVT1 UBA6_HUMAN true false Enzyme Homo_sapiens UBA6 1052 117968.9 6.05 Involved in catalytic activity Activates ubiquitin by first adenylating its C-terminal glycine residue with ATP, and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding an ubiquitin- E1 thioester and free AMP. Specific for ubiquitin, does not activate ubiquitin-like peptides. Differs from UBE1 in its specificity for substrate E2 charging. Does not charge cell cycle E2s, such as CDC34. Essential for embryonic development. Required for UBD/FAT10 conjugation. Isoform 2 may play a key role in ubiquitin system and may influence spermatogenesis and male fertility ["None"] ["None"] AB014773 11990422 UBA6 Chromosome:4 4q13.2 UBA6 HGNC:25581 true 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4428 CDBP04427 Ubiquitin-conjugating enzyme E2 W Q96B02 Q1XBE0_HUMAN true false Enzyme Homo_sapiens UBE2W 162 22018.2 9.148 Involved in acid-amino acid ligase activity Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. Catalyzes monoubiquitination. Involved in degradation of misfolded chaperone substrates by mediating monoubiquitination of STUB1/CHIP, leading to recruitment of ATXN3 to monoubiquitinated STUB1/CHIP, and restriction of the length of ubiquitin chain attached to STUB1/CHIP substrates by ATXN3. After UV irradiation, but not after mitomycin-C (MMC) treatment, acts as a specific E2 ubiquitin-conjugating enzyme for the Fanconi anemia complex by associating with E3 ubiquitin-protein ligase FANCL and catalyzing monoubiquitination of FANCD2, a key step in the DNA damage pathway. In vitro catalyzes 'Lys-11'-linked polyubiquitination. 2A7L AY948289 62997235 UBE2W 8 8q21.11 UBE2W HGNC:25616 true hsa:55284 NP_001001481.2:NM_001001481.2;NP_001257944.1:NM_001271015.1;NP_060769.4:NM_018299.4 Widely expressed, with highest expression in brain, liver, pancreas and heart. Homodimer. Interacts with FANCL. Interacts with STUB1/CHIP 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4429 CDBP04428 Galactosyl transferase-associated protein Q29SN7 Q29SN7_HUMAN true false Enzyme Homo_sapiens GTAP 422 46126.6 4.72 Involved in acid-amino acid ligase activity ["None"] ["None"] AY948200 62955967 GTAP GTAP HGNC:15698 true 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4430 CDBP04429 E3 ubiquitin-protein ligase CHFR Q96EP1 CHFR_HUMAN true false Enzyme Homo_sapiens CHFR 664 73385.8 5.9 Involved in protein binding E3 ubiquitin-protein ligase that functions in the antephase checkpoint by actively delaying passage into mitosis in response to microtubule poisons. Acts in early prophase before chromosome condensation, when the centrosome move apart from each other along the periphery of the nucleus. Probably involved in signaling the presence of mitotic stress caused by microtubule poisons by mediating the 'Lys-48'-linked ubiquitination of target proteins, leading to their degradation by the proteasome. Promotes the ubiquitination and subsequent degradation of AURKA and PLK1. Probably acts as a tumor suppressor, possibly by mediating the polyubiquitination of HDAC1, leading to its degradation. May also promote the formation of 'Lys-63'-linked polyubiquitin chains and functions with the specific ubiquitin-conjugating UBC13-MMS2 (UBE2N-UBE2V2) heterodimer. Substrates that are polyubiquitinated at 'Lys-63' are usually not targeted for degradation, but are rather involved in signaling cellular stress ["None"] ["None"] 1LGP NM_001161344.1 239048792 CHFR Chromosome:1 12q24.33 CHFR HGNC:20455 true 2020-06-12T23:07:25Z 2020-07-28T02:29:44Z 0 1 0 4431 CDBP04430 Ring finger protein 20 Q5VTR2 A7MCT5_HUMAN true false Enzyme Homo_sapiens RNF20 975 113664.0 5.7 Replication, recombination and repair ["None"] ["None"] BC152309 156229689 A7MCT5 true 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4432 CDBP04431 E3 ubiquitin-protein ligase RAD18 Q9NS91 RAD18_HUMAN true false Enzyme Homo_sapiens RAD18 495 56194.0 7.45 Involved in nucleic acid binding E3 ubiquitin-protein ligase involved in postreplication repair of UV-damaged DNA. Postreplication repair functions in gap- filling of a daughter strand on replication of damaged DNA. Associates to the E2 ubiquitin conjugating enzyme UBE2B to form the UBE2B-RAD18 ubiquitin ligase complex involved in mono- ubiquitination of DNA-associated PCNA on 'Lys-164'. Has ssDNA binding activity ["None"] ["None"] AB035274 8980617 RAD18 Chromosome:3 3p25-p24 RAD18 HGNC:18278 true 2020-06-12T23:07:25Z 2020-07-28T02:29:44Z 0 1 0 4433 CDBP04432 E3 ubiquitin ligase SMURF1 Q9HCE7 Q547Q3_HUMAN true false Enzyme Homo_sapiens SMURF1 757 86113.0 7.02 Involved in acid-amino acid ligase activity ["None"] ["None"] AF464850 22087281 SMURF1 Chromosome:7 7q22.1 SMURF1 HGNC:16807 true 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4434 CDBP04433 Baculoviral IAP repeat-containing protein 6 Q9NR09 BIRC6_HUMAN true false Enzyme Homo_sapiens BIRC6 4829 527604.5 5.94 Involved in acid-amino acid ligase activity Protects cells from undergoing apoptosis ["None"] ["None"] AF265555 8489831 BIRC6 Chromosome:2 2p22.3 BIRC6 HGNC:13516 true 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4435 CDBP04434 E3 ubiquitin-protein ligase MARCH4 Q9P2E8 MARH4_HUMAN true false Enzyme Homo_sapiens MARCH4 410 45528.0 7.9 Involved in zinc ion binding E3 ubiquitin-protein ligase that may mediate ubiquitination of MHC-I and CD4, and promote their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin- conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates ["1-18"] ["238-258", "272-292"] NM_020814.2 57977325 MARCH4 Chromosome:2 2q35 MARCH4 HGNC:29269 true 2020-06-12T23:07:25Z 2020-07-28T02:29:45Z 0 1 0 4436 CDBP04435 E3 ubiquitin-protein ligase CCNB1IP1 Q9NPC3 CIP1_HUMAN true false Enzyme Homo_sapiens CCNB1IP1 277 31543.7 8.46 Involved in ligase activity E3 ubiquitin-protein ligase. Modulates cyclin B levels and participates in the regulation of cell cycle progression through the G2 phase. Overexpression causes delayed entry into mitosis ["None"] ["None"] AF216381 7107350 CCNB1IP1 Chromosome:1 14q11.2 CCNB1IP1 HGNC:19437 true 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4437 CDBP04436 E3 ubiquitin-protein ligase RNF5 Q99942 RNF5_HUMAN true false Enzyme Homo_sapiens RNF5 180 19881.3 6.65 Involved in protein binding Has E2-dependent E3 ubiquitin-protein ligase activity. May function together with E2 ubiquitin-conjugating enzymes UBE2D1/UBCH5A and UBE2D2/UBC4. Mediates ubiquitination of PXN/paxillin and Salmonella type III secreted protein sopA. May be involved in regulation of cell motility and localization of PXN/paxillin. Mediates the 'Lys-63'-linked polyubiquitination of JKAMP thereby regulating JKAMP function by decreasing its association with components of the proteasome and ERAD; the ubiquitination appears to involve E2 ubiquitin-conjugating enzyme UBE2N. Mediates the 'Lys-48'-linked polyubiquitination of TMEM173 at 'Lys-150' leading to its proteasomal degradation; the ubiquitination occurrs in mitochondria after viral transfection and regulates antiviral responses ["None"] ["118-138", "160-180"] AB056869 13366064 RNF5 Chromosome:6 6p21.3 RNF5 HGNC:10068 true 2020-06-12T23:07:25Z 2020-07-28T02:29:45Z 0 1 0 4438 CDBP04437 Ubiquitin-conjugating enzyme E2 O Q9C0C9 UBE2O_HUMAN true false Enzyme Homo_sapiens UBE2O 1292 141292.265 5.125 Involved in acid-amino acid ligase activity Catalyzes the covalent attachment of ubiquitin to other proteins (By similarity). NM_022066.3 192449449 UBE2O 17 17q25.1 UBE2O HGNC:29554 true hsa:63893 NP_071349.3:NM_022066.3 Predominantly expressed in skeletal muscle and heart. 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4439 CDBP04438 Praja 1 A2A322 A2A322_HUMAN true false Enzyme Homo_sapiens PJA1 588 64727.9 4.57 Involved in protein binding ["None"] ["None"] AL157699 123254196 PJA1 PJA1 HGNC:16648 true 2020-06-12T23:07:25Z 2020-07-28T02:29:45Z 0 1 0 4440 CDBP04439 RFWD2 protein Q05CT6 Q05CT6_HUMAN true false Enzyme Homo_sapiens RFWD2 257 26952.2 9.32 Involved in protein binding ["None"] ["None"] BC020845 116283971 RFWD2 Chromosome:1 1q25.1-q25.2 RFWD2 HGNC:17440 true 2020-06-12T23:07:25Z 2020-07-28T02:29:45Z 0 1 0 4441 CDBP04440 E3 ubiquitin-protein ligase SMURF2 Q9HAU4 SMUF2_HUMAN true false Enzyme Homo_sapiens SMURF2 748 86195.2 8.02 Involved in acid-amino acid ligase activity E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Interacts with SMAD1 and SMAD7 in order to trigger their ubiquitination and proteasome-dependent degradation. In addition, interaction with SMAD7 activates autocatalytic degradation, which is prevented by interaction with SCYE1. Forms a stable complex with the TGF-beta receptor-mediated phosphorylated SMAD2 and SMAD3. In this way, SMAD2 may recruit substrates, such as SNON, for ubiquitin-mediated degradation. Enhances the inhibitory activity of SMAD7 and reduces the transcriptional activity of SMAD2. Coexpression of SMURF2 with SMAD1 results in considerable decrease in steady-state level of SMAD1 protein and a smaller decrease of SMAD2 level ["None"] ["None"] AF301463 10953883 SMURF2 Chromosome:1 17q22-q23 SMURF2 HGNC:16809 true 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4442 CDBP04441 E3 ubiquitin-protein ligase SIAH1 Q8IUQ4 SIAH1_HUMAN true false Enzyme Homo_sapiens SIAH1 282 31122.6 6.8 Involved in ubiquitin-dependent protein catabolic process E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin- conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates E3 ubiquitin ligase activity either through direct binding to substrates or by functioning as the essential RING domain subunit of larger E3 complexes. Triggers the ubiquitin-mediated degradation of many substrates, including proteins involved in transcription regulation (MYB, POU2AF1, PML and RBBP8), a cell surface receptor (DCC), cytoplasmic signal transduction molecules (KLF10/TIEG1 and NUMB), an antiapoptotic protein (BAG1), a microtubule motor protein (KIF22), a protein involved in synaptic vesicle function in neurons (SYP), a structural protein (CTNNB1) and SNCAIP. It is thereby involved in many cellular processes such as apoptosis, tumor suppression, cell cycle, axon guidance, transcription regulation, spermatogenesis and TNF-alpha signaling. Has some overlapping function with SIAH2. Induces apoptosis in cooperation with PEG3 ["None"] ["None"] 1K2F U63295 SIAH1 Chromosome:1 16q12 SIAH1 HGNC:10857 true 2020-06-12T23:07:25Z 2020-07-28T02:29:45Z 0 1 0 4443 CDBP04442 E3 ubiquitin-protein ligase SIAH2 O43255 SIAH2_HUMAN true false Enzyme Homo_sapiens SIAH2 324 34614.4 7.14 Involved in ubiquitin-dependent protein catabolic process E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin- conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates E3 ubiquitin ligase activity either through direct binding to substrates or by functioning as the essential RING domain subunit of larger E3 complexes. Triggers the ubiquitin-mediated degradation of many substrates, including proteins involved in transcription regulation (POU2AF1, PML, NCOR1), a cell surface receptor (DCC), an antiapoptotic protein (BAG1), and a protein involved in synaptic vesicle function in neurons (SYP). It is thereby involved in apoptosis, tumor suppression, cell cycle, transcription and signaling processes. Has some overlapping function with SIAH1. Triggers the ubiquitin-mediated degradation of TRAF2, whereas SIAH1 can not. Promotes monoubiquitination of SNCA ["None"] ["None"] BC013082 15341820 SIAH2 Chromosome:3 3q25 SIAH2 HGNC:10858 true 2020-06-12T23:07:25Z 2020-07-28T02:29:45Z 0 1 0 4444 CDBP04443 E3 ubiquitin-protein ligase MARCH7 Q9H992 MARH7_HUMAN true false Enzyme Homo_sapiens MARCH7 704 78050.0 6.76 Involved in zinc ion binding E3 ubiquitin-protein ligase which may specifically enhance the E2 activity of HIP2. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates ["None"] ["None"] AC009961 62822392 MARCH7 Chromosome:2 2q24.2 MARCH7 HGNC:17393 true 2020-06-12T23:07:25Z 2020-07-28T02:29:45Z 0 1 0 4445 CDBP04444 Ubiquitin-conjugating enzyme E2 Z Q9H832 UBE2Z_HUMAN true false Enzyme Homo_sapiens UBE2Z 354 38209.875 5.617 Involved in acid-amino acid ligase activity Catalyzes the covalent attachment of ubiquitin to other proteins (By similarity). Specific substrate for UBA6, not charged with ubiquitin by UBE1. May be involved in apoptosis regulation. NM_023079.4 150417999 UBE2Z 17 17q21.32 UBE2Z HGNC:25847 true hsa:65264 NP_075567.2:NM_023079.4 Widely expressed. Highly in placenta, pancreas, spleen and testis. 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4446 CDBP04445 Ubiquitin-like modifier-activating enzyme 7 P41226 UBA7_HUMAN true false Enzyme Homo_sapiens UBA7 1012 111693.3 5.96 Involved in catalytic activity Activates ubiquitin by first adenylating with ATP its C- terminal glycine residue and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding an ubiquitin- E1 thioester and free AMP ["None"] ["None"] NM_003335.2 38045948 UBA7 Chromosome:3 3p21 UBA7 HGNC:12471 true 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4447 CDBP04446 Ubiquitin carrier protein A4D1L5 A4D1L5_HUMAN true false Enzyme Homo_sapiens UBE2H 183 20655.0 4.29 Involved in acid-amino acid ligase activity ["None"] ["None"] 1YH6 AB451490 197692681 UBE2H Chromosome:7 7q32 UBE2H HGNC:12484 true 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4448 CDBP04447 Ubiquitin-protein ligase E3A Q05086 UBE3A_HUMAN true false Enzyme Homo_sapiens UBE3A 875 100686.7 4.86 Involved in acid-amino acid ligase activity E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and transfers it to its substrates. Several substrates have been identified including the RAD23A and RAD23B, MCM7 (which is involved in DNA replication), annexin A1, the PML tumor suppressor, and the cell cycle regulator CDKN1B. Additionally, may function as a cellular quality control ubiquitin ligase by helping the degradation of the cytoplasmic misfolded proteins. Finally, UBE3A also promotes its own degradation in vivo ["None"] ["None"] 1D5F NM_000462.2 19718766 UBE3A Chromosome:1 15q11.2 UBE3A HGNC:12496 true 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4449 CDBP04448 E3 ubiquitin-protein ligase RNF128 Q8TEB7 RN128_HUMAN true false Enzyme Homo_sapiens RNF128 428 46520.4 6.32 Involved in protein binding E3 ubiquitin-protein ligase that catalyzes polyubiquitin chains. Functions as an inhibitor of cytokine gene transcription. Inhibits IL2 and IL4 transcription and this activity is likely to be mediated by E3 ligase activity. Plays an important role in the induction of the anergic phenotype. Functions in the patterning of the dorsal ectoderm; sensitizes ectoderm to respond to neural- inducing signals ["1-38"] ["208-228"] AF394689 15011452 RNF128 RNF128 HGNC:21153 true 2020-06-12T23:07:25Z 2020-07-28T02:29:45Z 0 1 0 4450 CDBP04449 E3 ubiquitin-protein ligase TRIM11 Q96F44 TRI11_HUMAN true false Enzyme Homo_sapiens TRIM11 468 52773.6 5.42 Involved in zinc ion binding E3 ubiquitin-protein ligase that promotes the degradation of insoluble ubiquitinated proteins, including insoluble PAX6, poly-Gln repeat expanded HTT and poly-Ala repeat expanded ARX. Mediates PAX6 ubiquitination leading to proteasomal degradation, thereby modulating cortical neurogenesis. May also inhibit PAX6 transcriptional activity, possibly in part by preventing the binding of PAX6 to its consensus sequences. May contribute to the regulation of the intracellular level of HN (humanin) or HN-containing proteins through the proteasomal degradation pathway. Mediates MED15 ubiquitination leading to proteasomal degradation. May contribute to the innate restriction of retroviruses. Upon overexpression, reduces HIV-1 and murine leukemia virus infectivity, by suppressing viral gene expression. Antiviral activity depends on a functional E3 ubiquitin-protein ligase domain. May regulate TRIM5 turnover via the proteasome pathway, thus counteracting the TRIM5-mediated cross-species restriction of retroviral infection at early stages of the retroviral life cycle ["None"] ["None"] NM_145214.2 21630277 TRIM11 Chromosome:1 1q42.13 TRIM11 HGNC:16281 true 2020-06-12T23:07:25Z 2020-07-28T02:29:45Z 0 1 0 4451 CDBP04450 BRCA1 associated protein variant Q59H81 Q59H81_HUMAN true false Enzyme Homo_sapiens 632 71127.4 5.98 Involved in nucleotide binding ["None"] ["None"] AB208878 62087336 HGNC:1099 true 2020-06-12T23:07:25Z 2020-07-28T02:29:45Z 0 1 0 4452 CDBP04451 E3 ubiquitin-protein ligase synoviolin Q86TM6 SYVN1_HUMAN true false Enzyme Homo_sapiens SYVN1 617 67684.1 6.95 Involved in protein binding Acts as an E3 ubiquitin-protein ligase which accepts ubiquitin specifically from endoplasmic reticulum-associated UBC7 E2 ligase and transfers it to substrates, promoting their degradation. Component of the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins. Also promotes the degradation of normal but naturally short-lived proteins such as SGK. Protects cells from ER stress-induced apoptosis. Protects neurons from apoptosis induced by polyglutamine-expanded huntingtin (HTT) or unfolded GPR37 by promoting their degradation. Sequesters TP53 in the cytoplasm and promotes its degradation, thereby negatively regulating its biological function in transcription, cell cycle regulation and apoptosis ["1-22"] ["42-62", "99-119", "141-161", "170-190", "225-245"] AB024690 28460644 SYVN1 Chromosome:1 11q13 SYVN1 HGNC:20738 true 2020-06-12T23:07:25Z 2020-07-28T02:29:45Z 0 1 0 4453 CDBP04452 E3 ubiquitin-protein ligase TRIM63 Q969Q1 TRI63_HUMAN true false Enzyme Homo_sapiens TRIM63 353 40247.3 4.57 Involved in zinc ion binding E3 ubiquitin ligase. Regulates proteasomal degradation of cardiac troponin I/TNNI3 and probably of other sarcomeric- associated proteins. May play a role in striated muscle atrophy and hypertrophy by regulating an anti-hypertrophic PKC-mediated signaling pathway. May regulate the organization of myofibrils through TTN in muscle cells ["None"] ["None"] AF353673 13785924 TRIM63 Chromosome:1 1p34-p33 TRIM63 HGNC:16007 true 2020-06-12T23:07:25Z 2020-07-28T02:29:45Z 0 1 0 4454 CDBP04453 E3 ubiquitin-protein ligase LNX Q8TBB1 LNX1_HUMAN true false Enzyme Homo_sapiens LNX1 728 80627.7 7.1 Involved in protein binding Isoform 2 provides an endocytic scaffold for IGSF5/JAM4 ["None"] ["None"] NM_001126328.1 187607085 LNX1 Chromosome:4 4q12 LNX1 HGNC:6657 true 2020-06-12T23:07:25Z 2020-07-28T02:29:46Z 0 1 0 4455 CDBP04454 E3 ubiquitin-protein ligase ZNRF1 Q8ND25 ZNRF1_HUMAN true false Enzyme Homo_sapiens ZNRF1 227 23782.4 6.66 Involved in protein binding E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to substrates. May play a role in the establisment and maintenance of neuronal transmission and plasticity via its ubiquitin-protein ligase activity ["None"] ["None"] AF378524 14583079 ZNRF1 Chromosome:1 16q23.1 ZNRF1 HGNC:18452 true 2020-06-12T23:07:25Z 2020-07-28T02:29:46Z 0 1 0 4456 CDBP04455 Tripartite motif-containing protein 5 Q9C035 TRIM5_HUMAN true false Enzyme Homo_sapiens TRIM5 493 56337.9 5.94 Involved in zinc ion binding Isoform Alpha is a retrovirus restriction factor, which mediates species-specific, early block to retrovirus infection. Targets retroviral capsid soon after entry into the cell, and prevents reverse transcription of the virus RNA genome. Isoform Alpha trimers may make multiple contacts with the hexameric lattice of CA proteins which constitute the surface of retrovirion core, and somehow inactivate the virus. Restricts efficiently infection by N-MLV, but not HIV-1. May have E3 ubiquitin-protein ligase activity ["None"] ["None"] NM_033034.2 283046694 TRIM5 Chromosome:1 11p15 TRIM5 HGNC:16276 true 2020-06-12T23:07:25Z 2020-07-28T02:29:46Z 0 1 0 4457 CDBP04456 Ubiquitin-protein ligase E3B Q7Z3V4 UBE3B_HUMAN true false Enzyme Homo_sapiens UBE3B 1068 123096.7 8.27 Involved in acid-amino acid ligase activity E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates ["None"] ["None"] NM_130466.2 35493959 UBE3B Chromosome:1 12q24.11 UBE3B HGNC:13478 true 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4458 CDBP04457 E3 ubiquitin-protein ligase RNF8 O76064 RNF8_HUMAN true false Enzyme Homo_sapiens RNF8 485 55517.2 7.37 Involved in acid-amino acid ligase activity E3 ubiquitin-protein ligase required for assembly of repair proteins to sites of DNA damage. Catalyzes the 'Lys-63'- linked ubiquitination of histone H2A and H2AX. Following DNA double-strand breaks (DSBs), it is recruited to the sites of damage by ATM-phosphorylated MDC1, mediates the ubiquitination of histones H2A and H2AX, thereby promoting the formation of TP53BP1 and BRCA1 ionizing radiation-induced foci (IRIF). Promotes the formation of 'Lys-63'-linked polyubiquitin chains and functions with the specific ubiquitin-conjugating UBE2N/UBC13. Substrates that are polyubiquitinated at 'Lys-63' are usually not targeted for degradation. Enforces the G2/M DNA damage checkpoint. Controls the recruitment of UIMC1-BRCC3 (RAP80-BRCC36) and PAXIP1/PTIP to DNA damage sites following DNA double-strand breaks (DSBs). Ubiquitination of histone H2A requires UBE2N but not MMS2 (UBE2V2). May also ubiquitinate histone H2B. Catalyzes the 'Lys- 63'-linked ubiquitination of PCNA. May be required for proper exit from mitosis after spindle checkpoint activation and may regulate cytokinesis. May play a role in the regulation of RXRA-mediated transcriptional activity. Not involved in RXRA ubiquitination by UBE2E2 ["None"] ["None"] AB012770 3721580 RNF8 Chromosome:6 6p21.3 RNF8 HGNC:10071 true 2020-06-12T23:07:25Z 2020-07-28T02:29:46Z 0 1 0 4459 CDBP04458 E3 ubiquitin-protein ligase LRSAM1 Q6UWE0 LRSM1_HUMAN true false Enzyme Homo_sapiens LRSAM1 723 83593.1 5.75 Involved in hormone activity E3 ubiquitin-protein ligase that mediates monoubiquitination of TSG101 at multiple sites, leading to inactivate the ability of TSG101 to sort endocytic (EGF receptors) and exocytic (HIV-1 viral proteins) cargos ["None"] ["None"] NM_001005373.2 53729361 LRSAM1 Chromosome:9 9q33.3 LRSAM1 HGNC:25135 true 2020-06-12T23:07:25Z 2020-07-28T02:29:46Z 1 1 0 4460 CDBP04459 Ubiquitin-conjugating enzyme E2 Q2 Q8WVN8 UB2Q2_HUMAN true false Enzyme Homo_sapiens UBE2Q2 375 40955.82 4.785 Involved in acid-amino acid ligase activity Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-48'-linked polyubiquitination. 1ZUO AL832429 50949459 UBE2Q2 15 15q24.2 UBE2Q2 HGNC:19248 true hsa:92912 NP_001138807.1:NM_001145335.1;NP_775740.1:NM_173469.2 Detected in hypopharyngeal head and neck squamous cell carcinoma, in tumor masses and invasive epithelium. 2020-06-12T23:07:25Z 2020-06-12T23:07:25Z 0 0 0 4461 CDBP04460 E3 ubiquitin-protein ligase MARCH9 Q86YJ5 MARH9_HUMAN true false Enzyme Homo_sapiens MARCH9 346 37772.1 9.35 Involved in zinc ion binding E3 ubiquitin-protein ligase that may mediate ubiquitination of MHC-I, CD4 and ICAM1, and promote their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates ["None"] ["185-205", "219-239"] NM_138396.4 40255016 MARCH9 Chromosome:1 12q14.1 MARCH9 HGNC:25139 true 2020-06-12T23:07:25Z 2020-07-28T02:29:46Z 0 1 0 4462 CDBP04461 Probable E3 ubiquitin-protein ligase TRIP12 Q14669 TRIPC_HUMAN true false Enzyme Homo_sapiens TRIP12 1992 220431.5 8.64 Involved in binding Component of PA700, an ATP-dependent multisubunit protein that activates the proteolytic activities of the multifunctional proteinase (20S proteasome) of the 26S complex. Specifically interacts with the ligand binding domain of the thyroid hormone receptor (in a thyroid hormone T3-independent manner) and with retinoid X receptor (RXR). Could be E3 ubiquitin- protein ligase which accepts ubiquitin from an E2 ubiquitin- conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates ["None"] ["None"] NM_004238.1 10863903 TRIP12 Chromosome:2 2q36.3 TRIP12 HGNC:12306 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4463 CDBP04462 E3 ubiquitin-protein ligase DZIP3 Q86Y13 DZIP3_HUMAN true false Enzyme Homo_sapiens DZIP3 1208 138603.1 6.87 Involved in protein binding E3 Ubiquitin ligase proteins mediate ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin- conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Able to specifically bind RNA ["None"] ["None"] NM_014648.3 7662244 DZIP3 Chromosome:3 3q13.13 DZIP3 HGNC:30938 true 2020-06-12T23:07:26Z 2020-07-28T02:29:46Z 0 1 0 4464 CDBP04463 Ubiquitin-protein ligase E3C Q15386 UBE3C_HUMAN true false Enzyme Homo_sapiens UBE3C 1083 123921.3 6.69 Involved in acid-amino acid ligase activity E3 ubiquitin-protein ligase that accepts ubiquitin from the E2 ubiquitin-conjugating enzyme UBE2D1 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Can assemble unanchored poly-ubiquitin chains in either 'Lys-29'- or 'Lys-48'-linked polyubiquitin chains. Has preference for 'Lys-48' linkages. It can target itself for ubiquitination in vitro and may promote its own degradation in vivo ["None"] ["None"] NM_014671.2 187960100 UBE3C Chromosome:7 7q36.3 UBE3C HGNC:16803 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4465 CDBP04464 Glucosamine-6-phosphate isomerase 2 Q8TDQ7 GNPI2_HUMAN true false Enzyme Homo_sapiens GNPDA2 276 27090.845 6.525 Involved in carbohydrate metabolic process AF247786 GNPDA2 4 4p12 GNPDA2 HGNC:21526 true hsa:132789 NP_001257809.1:NM_001270880.1;NP_001257810.1:NM_001270881.1;NP_612208.1:NM_138335.2 Homohexamer 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4466 CDBP04465 Tyrosylprotein sulfotransferase 1 A4D2M0 A4D2M0_HUMAN true false Enzyme Homo_sapiens TPST1 370 42188.1 9.49 Involved in sulfotransferase activity ["None"] ["None"] AK313098 189053670 TPST1 Chromosome:7 7q11.21 TPST1 HGNC:12020 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4467 CDBP04466 GGT7 protein A0PJJ9 A0PJJ9_HUMAN true false Enzyme Homo_sapiens GGT7 592 62565.3 4.64 Involved in gamma-glutamyltransferase activity ["None"] ["None"] BC033745 118600847 GGT7 Chromosome:2 20q11.22 GGT7 HGNC:4259 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4468 CDBP04467 Gamma-glutamyltransferase 5 P36269 Q6GMP0_HUMAN true false Enzyme Homo_sapiens GGT5 587 62331.75 7.551 Involved in gamma-glutamyltransferase activity Cleaves the gamma-glutamyl peptide bond of glutathione conjugates, but maybe not glutathione itself. Converts leukotriene C4 (LTC4) to leukotriene D4 (LTD4). BC073999 49256405 GGT5 22 22q11.23 GGT5 HGNC:4260 true hsa:2687 HS01949-MONOMER NP_001093251.1:NM_001099781.1;NP_001093252.1:NM_001099782.1;NP_004112.2:NM_004121.2 Heterodimer composed of the light and heavy chains. The active site is located in the light chain 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4469 CDBP04468 DNA-directed RNA polymerase III subunit RPC1 O14802 RPC1_HUMAN true false Enzyme Homo_sapiens POLR3A 1390 155640.155 8.481 Involved in DNA binding DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Largest and catalytic core component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Forms the polymerase active center together with the second largest subunit. A single stranded DNA template strand of the promoter is positioned within the central active site cleft of Pol III. A bridging helix emanates from RPC1 and crosses the cleft near the catalytic site and is thought to promote translocation of Pol III by acting as a ratchet that moves the RNA-DNA hybrid through the active site by switching from straight to bent conformations at each step of nucleotide addition (By similarity). Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway. NM_007055.3 39725938 POLR3A 10 10q22-q23 POLR3A HGNC:30074 true hsa:11128 NP_008986.2:NM_007055.3 Expressed in the brain, in the cortex and the white matter (at protein level). Component of the RNA polymerase III (Pol III) complex consisting of 17 subunits 2020-06-12T23:07:26Z 2020-07-28T02:29:46Z 0 1 1 4470 CDBP04469 DNA-directed RNA polymerase I subunit RPA1 O95602 RPA1_HUMAN true false Enzyme Homo_sapiens POLR1A 1720 194809.645 7.036 Involved in DNA binding DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Largest and catalytic core component of RNA polymerase I which synthesizes ribosomal RNA precursors. Forms the polymerase active center together with the second largest subunit. A single stranded DNA template strand of the promoter is positioned within the central active site cleft of Pol I. A bridging helix emanates from RPA1 and crosses the cleft near the catalytic site and is thought to promote translocation of Pol I by acting as a ratchet that moves the RNA-DNA hybrid through the active site by switching from straight to bent conformations at each step of nucleotide addition (By similarity). AK302458 221044078 POLR1A 2 2p11.2 POLR1A HGNC:17264 true hsa:25885 NP_056240.2:NM_015425.3 Component of the RNA polymerase I (Pol I) complex consisting of at least 13 subunits. Interacts with MYO1C. Interacts with ERBB2 2020-06-12T23:07:26Z 2020-07-28T02:29:46Z 0 1 1 4471 CDBP04470 Zinc ribbon domain containing 1 Q2L6J2 Q2L6J2_HUMAN true false Enzyme Homo_sapiens ZNRD1 126 13903.6 4.68 Involved in nucleic acid binding ["None"] ["None"] AB202082 86197925 ZNRD1 Chromosome:6 6p21.3 ZNRD1 HGNC:13182 true 2020-06-12T23:07:26Z 2020-07-28T02:29:47Z 0 1 1 4472 CDBP04471 DNA-directed RNA polymerases I and III subunit RPAC2 Q9Y2S0 RPAC2_HUMAN true false Enzyme Homo_sapiens POLR1D 133 11018.355 10.248 Involved in DNA-directed RNA polymerase activity DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common core component of RNA polymerases I and III which synthesize ribosomal RNA precursors and small RNAs, such as 5S rRNA and tRNAs, respectively. AF077044 POLR1D 13 13q12.2 POLR1D HGNC:20422 true hsa:51082 NP_001193488.1:NM_001206559.1;NP_057056.1:NM_015972.3;NP_689918.1:NM_152705.2 Component of the RNA polymerase I (Pol I) and RNA polymerase III (Pol III) complexes consisting of at least 13 and 17 subunits, respectively 2020-06-12T23:07:26Z 2020-07-28T02:29:47Z 0 0 1 4473 CDBP04472 DNA-directed RNA polymerase Q7Z3R8 Q7Z3R8_HUMAN true false Enzyme Homo_sapiens DKFZp686D10173 1133 127818.1 8.64 Involved in DNA-directed RNA polymerase activity Nucleoside triphosphate + RNA(n) = diphosphate + RNA(n+1) ["None"] ["None"] BX537447 31873396 DKFZp686D10173 DKFZp686D10173 HGNC:30348 true 2020-06-12T23:07:26Z 2020-07-28T02:29:47Z 0 0 1 4474 CDBP04473 DNA-directed RNA polymerase III subunit RPC7-like Q9BT43 RPC7L_HUMAN true false Enzyme Homo_sapiens POLR3GL 218 Transcription AK056984 16552536 POLR3GL POLR3GL HGNC:28466 true hsa:84265 NP_115681.1:NM_032305.1;XP_003960229.1:XM_003960180.1 2020-06-12T23:07:26Z 2020-07-28T02:29:47Z 0 0 1 4475 CDBP04474 POLR1C protein Q96HT3 Q96HT3_HUMAN true false Enzyme Homo_sapiens POLR1C 338 38461.5 5.3 Involved in DNA binding ["None"] ["None"] BC008118 14198113 POLR1C Chromosome:6 6p21.1 POLR1C HGNC:20194 true 2020-06-12T23:07:26Z 2020-07-28T02:29:47Z 0 0 1 4476 CDBP04475 Alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase Q9H4F1 Q5T9D0_HUMAN true false Enzyme Homo_sapiens ST6GALNAC4 302 34200.255 8.569 Involved in the biosynthesis of ganglioside GD1A from GM1B. Transfers CMP-NeuAc with an alpha-2,6-linkage to GalNAc residue on NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc of glycoproteins and glycolipids. Prefers glycoproteins to glycolipids (By similarity). AL157935 55958253 Q5T9D0 9 9q34 ST6GALNAC4 HGNC:17846 true hsa:27090 NP_778204.1:NM_175039.3;NP_778205.1:NM_175040.3 Ubiquitous. 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4477 CDBP04476 Phospholipase D1 variant Q59EA4 Q59EA4_HUMAN true false Enzyme Homo_sapiens 1059 122007.8 9.03 Involved in protein binding ["None"] ["None"] AB209907 62089400 HGNC:9067 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4478 CDBP04477 Peptidoglycan recognition protein 3 Q96LB9 PGRP3_HUMAN true false Enzyme Homo_sapiens PGLYRP3 341 Involved in N-acetylmuramoyl-L-alanine amidase activity Pattern receptor that binds to murein peptidoglycans (PGN) of Gram-positive bacteria. Has bactericidal activity towards Gram-positive bacteria. May kill Gram-positive bacteria by interfering with peptidoglycan biosynthesis. Binds also to Gram-negative bacteria, and has bacteriostatic activity towards Gram-negative bacteria. Plays a role in innate immunity. 1SK3;1SK4;1TWQ;2APH AY035376 PGLYRP3 PGLYRP3 HGNC:30014 true hsa:114771 NP_443123.1:NM_052891.1 Detected in skin epidermis, eccrine sweat glands and ducts, ciliary body epithelial cells of the eye, in small intestine, colon, stomach and in mature epithelial cells of the tongue (at protein level). Highly expressed in skin and esophagus, expressed also in tonsils and thymus and to a much lesser extent in the stomach, descending colon, rectum and brain. Monomer. Homodimer; disulfide-linked. Heterodimer with PGLYRP4; disulfide-linked 2020-06-12T23:07:26Z 2020-07-28T02:29:47Z 1 0 0 4479 CDBP04478 Peptidoglycan recognition protein 4 Q96LB8 Q5SY64_HUMAN true false Enzyme Homo_sapiens PGLYRP4 373 Pattern receptor that binds to murein peptidoglycans (PGN) of Gram-positive bacteria. Has bactericidal activity towards Gram-positive bacteria. May kill Gram-positive bacteria by interfering with peptidoglycan biosynthesis. Binds also to Gram-negative bacteria, and has bacteriostatic activity towards Gram-negative bacteria. Plays a role in innate immunity. 2EAV;2EAX BC142636 148744335 Q5SY64 PGLYRP4 HGNC:30015 true hsa:57115 NP_065126.2:NM_020393.2 Detected in skin epidermis, eccrine sweat glands and ducts, mucous cells in the submandibular salivary gland, mucous cells in the throat, ciliary body epithelial cells of the eye, small intestine, colon, stomach and in mature epithelial cells of the tongue (at protein level). High expression in skin and esophagus. Expressed also to a much lesser extent in the tonsils and thymus. Homodimer; disulfide-linked. Hetrodimer with PGLYRP3; disulfide-linked 2020-06-12T23:07:26Z 2020-07-28T02:29:47Z 1 0 0 4480 CDBP04479 Hyaluronidase-1 Q12794 HYAL1_HUMAN true false Enzyme Homo_sapiens HYAL1 435 Involved in catalytic activity May have a role in promoting tumor progression. May block the TGFB1-enhanced cell growth. 2PE4 U03056 HYAL1 HYAL1 HGNC:5320 true hsa:3373 HS03763-MONOMER NP_149349.2:NM_033159.3;NP_695013.1:NM_153281.1;NP_695014.1:NM_153282.2;NP_695015.1:NM_153283.2;NP_695017.1:NM_153285.2 Highly expressed in the liver, kidney and heart. Weakly expressed in lung, placenta and skeletal muscle. No expression detected in adult brain. Isoform 1 is expressed only in bladder and prostate cancer cells, G2/G3 bladder tumor tissues and lymph node specimens showing tumor invasive tumors cells. Isoform 3, isoform 4, isoform 5 and isoform 6 are expressed in normal bladder and bladder tumor tissues. 2020-06-12T23:07:26Z 2020-07-28T02:29:47Z 0 0 1 4481 CDBP04480 Hyaluronidase PH-20 P38567 Q8TC30_HUMAN true false Enzyme Homo_sapiens SPAM1 511 Involved in catalytic activity Involved in sperm-egg adhesion. Upon fertilization sperm must first penetrate a layer of cumulus cells that surrounds the egg before reaching the zona pellucida. The cumulus cells are embedded in a matrix containing hyaluronic acid which is formed prior to ovulation. This protein aids in penetrating the layer of cumulus cells by digesting hyaluronic acid. BC026163 20072878 SPAM1 SPAM1 HGNC:11217 true hsa:6677 HS02884-MONOMER NP_001167515.1:NM_001174044.1;NP_001167516.1:NM_001174045.1;NP_001167517.1:NM_001174046.1;NP_003108.2:NM_003117.4;NP_694859.1:NM_153189.2 Testis. 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4482 CDBP04481 Hyaluronidase-2 Q12891 HYAL2_HUMAN true false Enzyme Homo_sapiens HYAL2 473 Involved in catalytic activity Hydrolyzes high molecular weight hyaluronic acid to produce an intermediate-sized product which is further hydrolyzed by sperm hyaluronidase to give small oligosaccharides. Displays very low levels of activity. Associates with and negatively regulates MST1R. AJ000099 4378959 HYAL2 HYAL2 HGNC:5321 true hsa:8692 HS00926-MONOMER NP_003764.3:NM_003773.4;NP_149348.2:NM_033158.4 Widely expressed. No expression detected in adult brain. Interacts with MST1R 2020-06-12T23:07:26Z 2020-07-28T02:29:48Z 1 0 1 4483 CDBP04482 NEU1 protein Q5JQI0 Q5JQI0_HUMAN true false Enzyme Homo_sapiens NEU1 415 45467.0 5.68 ["None"] ["None"] AK313006 189066592 NEU1 Chromosome:6 6p21.3 NEU1 HGNC:7758 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4484 CDBP04483 Testicular acid phosphatase Q9BZG2 PPAT_HUMAN true false Enzyme Homo_sapiens ACPT 426 46089.015 8.202 Involved in acid phosphatase activity Dephosphorylates receptor tyrosine-protein kinase erbB-4 and inhibits the ligand-induced proteolytic cleavage. AF321918 12958660 ACPT 19 19q13.4 ACPT HGNC:14376 true hsa:93650 NP_149059.1:NM_033068.2 Expressed mainly in the testis. Also expressed in the brain where they are enriched at the postsynaptic sites. Expressed at lower levels in the trachea, prostate, bone marrow, spinal cord, colon, fetal brain, heart, thymus, fetal liver, spleen, leukocytes, ovary, small intestine, pancreas and skeletal muscle. Expression is significantly lower in testicular cancer tissues than in normal testicular tissues. Isoform 3 is expressed in the testis, trachea, prostate and bone marrow. Homodimer (Probable) 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4485 CDBP04484 Type III iodothyronine deiodinase P55073 IOD3_HUMAN true false Enzyme Homo_sapiens DIO3 278 33947.175 6.719 Involved in thyroxine 5'-deiodinase activity Responsible for the deiodination of T4 (3,5,3',5'-tetraiodothyronine) into RT3 (3,3',5'-triiodothyronine) and of T3 (3,5,3'-triiodothyronine) into T2 (3,3'-diiodothyronine). RT3 and T2 are inactive metabolites. May play a role in preventing premature exposure of developing fetal tissues to adult levels of thyroid hormones. Can regulate circulating fetal thyroid hormone concentrations throughout gestation. Essential role for regulation of thyroid hormone inactivation during embryological development. BC017717 56103188 DIO3 14 14q32 DIO3 HGNC:2885 true hsa:1735 HS11928-MONOMER NP_001353.4:NM_001362.3 Expressed in placenta and several fetal tissues. Homodimer. May undergo minor heretodimerization with DIO1 and DIO2 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4486 CDBP04485 tRNA isopentenyltransferase 1 variant Q53F11 Q53F11_HUMAN true false Enzyme Homo_sapiens TRIT1 467 52727.9 8.16 Involved in ATP binding ["None"] ["None"] AK223478 62898688 TRIT1 Chromosome:1 1p34.2 TRIT1 HGNC:20286 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4487 CDBP04486 Myb-binding protein 1A Q9BQG0 MBB1A_HUMAN true false Enzyme Homo_sapiens MYBBP1A 1328 148853.2 9.87 Involved in binding May activate or repress transcription via interactions with sequence specific DNA-binding proteins. Repression may be mediated at least in part by histone deacetylase activity (HDAC activity) ["None"] ["None"] AF147709 6959304 MYBBP1A Chromosome:1 17p13.3 MYBBP1A HGNC:7546 true 2020-06-12T23:07:26Z 2020-07-28T02:29:48Z 0 0 1 4488 CDBP04487 DNA polymerase theta O75417 Q6VMB5_HUMAN true false Enzyme Homo_sapiens POLQ 2590 289616.715 7.361 Involved in DNA binding Has a DNA polymerase activity on nicked double-stranded DNA and on a singly primed DNA template. The enzyme activity is resistant to aphidicolin, and inhibited by dideoxynucleotides. Exhibites a single-stranded DNA-dependent ATPase activity. Could be involved in the repair of interstrand cross-links. AY338826 76364226 POLQ 3 3q13.33 POLQ HGNC:9186 true hsa:10721 NP_955452.3:NM_199420.3 Highly expressed in testis. 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4489 CDBP04488 Poly(A) polymerase beta (Testis specific) A4D1Z6 A4D1Z6_HUMAN true false Enzyme Homo_sapiens PAPOLB 637 71812.0 6.41 Involved in nucleotidyltransferase activity ["None"] ["None"] NM_020144.4 77874206 PAPOLB Chromosome:7 7p22.1 PAPOLB HGNC:15970 true 2020-06-12T23:07:26Z 2020-07-28T02:29:48Z 0 0 1 4490 CDBP04489 Gamma-glutamylcyclotransferase O75223 GGCT_HUMAN true false Enzyme Homo_sapiens GGCT 188 19091.635 9.493 Involved in acyltransferase activity Catalyzes the formation of 5-oxoproline from gamma-glutamyl dipeptides and may play a significant role in glutathione homeostasis. Induces release of cytochrome c from mitochondria with resultant induction of apoptosis. 2I5T;2PN7;2Q53;2RBH;3CRY AK315608 189054993 GGCT 7 7p15-p14 GGCT HGNC:21705 true hsa:79017 NP_001186744.1:NM_001199815.1;NP_001186745.1:NM_001199816.1;NP_001186746.1:NM_001199817.1;NP_076956.1:NM_024051.3 Homodimer (Probable) 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4491 CDBP04490 N-acetylglucosamine-1-phosphotransferase subunits alpha/beta Q3T906 GNPTA_HUMAN true false Enzyme Homo_sapiens GNPTAB 1256 143620.765 7.17 Involved in transcription factor binding Catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. M6P residues are required to bind to the M6P receptors (MPR), which mediate the vesicular transport of lysosomal enzymes to the endosomal/prelysosomal compartment. NM_024312.4 38202211 GNPTAB 12 12q23.2 GNPTAB HGNC:29670 true hsa:79158 NP_077288.2:NM_024312.4 Expressed in the heart, whole brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Hexamer of two alpha, two beta and two gamma subunits; disulfide-linked. It is believed that the alpha and/or the beta subunit of the enzyme contain the catalytic portion and that the gamma subunit functions in recognition of the lysosomal enzymes 2020-06-12T23:07:26Z 2020-07-28T02:29:48Z 0 1 1 4492 CDBP04491 Pp-GalNAc-transferase 20 Q2L4S5 Q2L4S5_HUMAN true false Enzyme Homo_sapiens GALNT20 598 67750.5 9.17 Involved in sugar binding ["None"] ["None"] AJ626726 86475573 GALNT20 GALNT20 HGNC:16347 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4493 CDBP04492 1-acylglycerol-3-phosphate O-acyltransferase 6 (Lysophosphatidic acid acyltransferase, zeta), isoform CRA_b Q2TU73 Q2TU73_HUMAN true false Enzyme Homo_sapiens AGPAT6 456 52070.6 9.56 Involved in acyltransferase activity ["None"] ["None"] AY513610 46241188 AGPAT6 Chromosome:8 8p11.21 AGPAT6 HGNC:20880 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4494 CDBP04493 Diacylglycerol kinase, epsilon 64kDa A1L4Q0 A1L4Q0_HUMAN true false Enzyme Homo_sapiens DGKE 567 63926.6 7.78 Involved in diacylglycerol kinase activity ["None"] ["None"] AK293039 158259539 DGKE Chromosome:1 17q22 DGKE HGNC:2852 true 2020-06-12T23:07:26Z 2020-07-28T02:29:48Z 1 0 0 4495 CDBP04494 Calcium/calmodulin-dependent protein kinase ID Q5SQQ7 Q5SQQ7_HUMAN true false Enzyme Homo_sapiens CAMK1D 357 40189.3 6.52 Involved in protein kinase activity ["None"] ["None"] AK289393 158259809 CAMK1D Chromosome:1 10p13 CAMK1D HGNC:19341 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4496 CDBP04495 Calcium/calmodulin-dependent protein kinase (CaM kinase) II beta A4D2J9 A4D2J9_HUMAN true false Enzyme Homo_sapiens CAMK2B 666 72677.1 7.28 Involved in calmodulin-dependent protein kinase activity ["None"] ["None"] NM_001220.4 26051204 CAMK2B Chromosome:2 22q12|7p14.3-p14.1 CAMK2B HGNC:1461 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4497 CDBP04496 Calcium/calmodulin-dependent protein kinase isoform A Q13555 O00561_HUMAN true false Enzyme Homo_sapiens 306 34523.1 6.7 Involved in calmodulin-dependent protein kinase activity ["None"] ["None"] L07043 2204281 HGNC:1463 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4498 CDBP04497 Dual specificity protein phosphatase 14 O95147 DUS14_HUMAN true false Enzyme Homo_sapiens DUSP14 198 22254.755 9.565 Involved in phosphatase activity Involved in the inactivation of MAP kinases. Dephosphorylates ERK, JNK and p38 MAP-kinases. 2WGP AF038844 4104681 DUSP14 17 17q12 DUSP14 HGNC:17007 true hsa:11072 NP_008957.1:NM_007026.2 Interacts with CD28 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4499 CDBP04498 Dual specificity protein phosphatase 15 Q9H1R2 A8MVC8_HUMAN true false Enzyme Homo_sapiens DUSP15 132 14720.715 10.49 1YZ4 AK091960 193787244 DUSP15 20 20q11.21 DUSP15 HGNC:16236 true hsa:128853 NP_001012662.1:NM_001012644.1;NP_542178.2:NM_080611.3;NP_817130.1:NM_177991.1 Highly expressed in testis. 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4500 CDBP04499 Serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit beta Q9Y5P8 P2R3B_HUMAN true false Enzyme Homo_sapiens PPP2R3B 575 65060.1 4.77 Involved in calcium ion binding The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment ["None"] ["None"] NM_013239.4 33695078 PPP2R3B PPP2R3B HGNC:13417 true 2020-06-12T23:07:26Z 2020-07-28T02:29:49Z 0 1 0 4501 CDBP04500 Carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 1 Q9GZU7 CTDS1_HUMAN true false Enzyme Homo_sapiens CTDSP1 261 29127.765 5.508 Involved in phosphatase activity Preferentially catalyzes the dephosphorylation of 'Ser-5' within the tandem 7 residues repeats in the C-terminal domain (CTD) of the largest RNA polymerase II subunit POLR2A. Negatively regulates RNA polymerase II transcription, possibly by controlling the transition from initiation/capping to processive transcript elongation. Recruited by REST to neuronal genes that contain RE-1 elements, leading to neuronal gene silencing in non-neuronal cells. 1T9Z;1TA0;2GHQ;2GHT;3L0B;3L0C;3L0Y;3PGL AF229162 CTDSP1 2 2q35 CTDSP1 HGNC:21614 true hsa:58190 NP_001193807.1:NM_001206878.1;NP_067021.1:NM_021198.2;NP_872580.1:NM_182642.2 Expression is restricted to non-neuronal tissues. Highest expression in skeletal muscle, spleen, lung and placenta. magnesium ion per monomer Monomer . Interacts with GTF2F1. Interacts with REST 2020-06-12T23:07:26Z 2020-07-28T02:29:49Z 0 1 1 4502 CDBP04501 Dual specificity protein phosphatase 21 Q9H596 DUS21_HUMAN true false Enzyme Homo_sapiens DUSP21 190 21528.525 8.815 Involved in phosphatase activity Can dephosphorylate single and diphosphorylated synthetic MAPK peptides, with preference for the phosphotyrosine and diphosphorylated forms over phosphothreonine. AF533018 24415104 DUSP21 X Xp11.4-p11.23 DUSP21 HGNC:20476 true hsa:63904 NP_071359.3:NM_022076.3 Expressed in testis. 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4503 CDBP04502 Glutamyl aminopeptidase Q07075 AMPE_HUMAN true false Enzyme Homo_sapiens ENPEP 957 109243.6 5.13 Involved in proteolysis Appears to have a role in the catabolic pathway of the renin-angiotensin system. Probably plays a role in regulating growth and differentiation of early B-lineage cells ["None"] ["19-39"] NM_001977.3 132814467 ENPEP Chromosome:4 4q25 ENPEP HGNC:3355 true 2020-06-12T23:07:26Z 2020-07-28T02:29:49Z 0 1 0 4504 CDBP04503 Bone morphogenetic protein 1 P13497 BMP1_HUMAN true false Enzyme Homo_sapiens BMP1 986 111247.8 6.89 Involved in calcium ion binding Cleaves the C-terminal propeptides of procollagen I, II and III. Induces cartilage and bone formation. May participate in dorsoventral patterning during early development by cleaving chordin (CHRD) ["1-22"] ["None"] NM_006129.4 5453579 BMP1 Chromosome:8 8p21.3 BMP1 HGNC:1067 true 2020-06-12T23:07:26Z 2020-07-28T02:29:49Z 0 1 0 4505 CDBP04504 Putative uncharacterized protein DKFZp686I0955 Q5HYC3 Q5HYC3_HUMAN true true Enzyme Homo_sapiens DKFZp686I0955 975 106232.7 5.52 Involved in ATP binding ["None"] ["None"] BX648333 57997567 DKFZp686I0955 DKFZp686I0955 HGNC:29103 true 2020-06-12T23:07:26Z 2020-07-28T02:29:49Z 0 0 0 4506 CDBP04505 Multiple substrate lipid kinase, isoform CRA_a A4D1U5 A4D1U5_HUMAN true false Enzyme Homo_sapiens FLJ10842 422 47136.8 8.21 Involved in NAD+ kinase activity ["None"] ["None"] NM_018238.3 8922701 FLJ10842 FLJ10842 HGNC:21869 true 2020-06-12T23:07:26Z 2020-07-28T02:29:50Z 1 0 0 4507 CDBP04506 Phosphoinositide-3-kinase, class 2, beta polypeptide A2RUF7 A2RUF7_HUMAN true false Enzyme Homo_sapiens PIK3C2B 1634 184766.1 7.3 Involved in binding ["None"] ["None"] BC132876 124376922 PIK3C2B Chromosome:1 1q32 PIK3C2B HGNC:8972 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4508 CDBP04507 Inositol-pentakisphosphate 2-kinase Q9H8X2 IPPK_HUMAN true false Enzyme Homo_sapiens IPPK 491 56016.12 8.364 Involved in ATP binding Phosphorylates Ins(1,3,4,5,6)P5 at position 2 to form Ins(1,2,3,4,5,6)P6 (InsP6 or phytate). InsP6 is involved in many processes such as mRNA export, non-homologous end-joining, endocytosis, ion channel regulation. It also protects cells from TNF-alpha-induced apoptosis. AF351202 14582858 IPPK 9 9q22.31 IPPK HGNC:14645 true hsa:64768 HS05071-MONOMER NP_073592.1:NM_022755.5 Ubiquitously expressed, with high expression in heart, brain, testis and placenta. 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4509 CDBP04508 Inositol hexakisphosphate kinase 3 Q5TAQ4 Q5TAQ4_HUMAN true false Enzyme Homo_sapiens IHPK3 410 46416.3 8.18 Involved in inositol trisphosphate 3-kinase activity ["None"] ["None"] AL139044 55957571 IHPK3 IHPK3 HGNC:17269 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4510 CDBP04509 Putative uncharacterized protein IP6K1 Q92551 A8MUX4_HUMAN true false Enzyme Homo_sapiens IP6K1 276 31523.6 8.7 Involved in inositol trisphosphate 3-kinase activity ["None"] ["None"] NM_001006115.2 55769518 IP6K1 Chromosome:3 3p21.31 IP6K1 HGNC:18360 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4511 CDBP04510 EPH receptor A8 P29322 Q8IUX6_HUMAN true false Enzyme Homo_sapiens EPHA8 495 53899.3 6.79 Involved in ephrin receptor activity ["None"] ["None"] AL035703 56417854 EPHA8 Chromosome:1 1p36.12 EPHA8 HGNC:3391 true 2020-06-12T23:07:26Z 2020-07-28T02:29:50Z 1 0 0 4512 CDBP04511 Ephrin type-B receptor 6 O15197 EPHB6_HUMAN true false Enzyme Homo_sapiens EPHB6 1021 110699.4 6.63 Involved in ephrin receptor activity Kinase-defective receptor for members of the ephrin-B family. Binds to ephrin-B1 and ephrin-B2. Modulates cell adhesion and migration by exerting both positive and negative effects upon stimulation with ephrin-B2. Inhibits JNK activation, T cell receptor-induced IL-2 secretion and CD25 expression upon stimulation with ephrin-B2 ["1-31"] ["595-615"] NM_004445.3 194097332 EPHB6 Chromosome:7 7q33-q35 EPHB6 HGNC:3396 true 2020-06-12T23:07:26Z 2020-07-28T02:29:50Z 1 0 0 4513 CDBP04512 Ephrin type-A receptor 10 Q5JZY3 EPHAA_HUMAN true false Enzyme Homo_sapiens EPHA10 1008 109626.7 7.01 Involved in ephrin receptor activity Receptor for members of the ephrin-A family. Binds to EFNA3, EFNA4 and EFNA5 ["1-33"] ["566-586"] NM_001099439.1 150456460 EPHA10 Chromosome:1 1p34.3 EPHA10 HGNC:19987 true 2020-06-12T23:07:26Z 2020-07-28T02:29:50Z 1 0 0 4514 CDBP04513 Met proto-oncogene (Hepatocyte growth factor receptor) P08581 A1L467_HUMAN true false Enzyme Homo_sapiens MET 1390 155540.0 7.34 Involved in receptor activity ["None"] ["None"] 1SHY BC130420 120660052 MET Chromosome:7 7q31 MET HGNC:7029 true 2020-06-12T23:07:26Z 2020-07-28T02:29:50Z 1 0 0 4515 CDBP04514 Neurotrophic tyrosine kinase, receptor, type 3 Q96CY4 Q96CY4_HUMAN true false Enzyme Homo_sapiens NTRK3 612 68452.0 6.12 Involved in transmembrane receptor protein tyrosine kinase activity ["None"] ["None"] BC013693 15489168 NTRK3 Chromosome:1 15q25 NTRK3 HGNC:8033 true 2020-06-12T23:07:26Z 2020-07-28T02:29:50Z 1 0 0 4516 CDBP04515 ROR1 protein Q01973 Q66K77_HUMAN true false Enzyme Homo_sapiens ROR1 393 43825.1 6.75 Involved in protein binding ["None"] ["None"] AL137859 56204173 ROR1 Chromosome:1 1p32-p31 ROR1 HGNC:10256 true 2020-06-12T23:07:26Z 2020-07-28T02:29:51Z 1 0 0 4517 CDBP04516 AXL receptor tyrosine kinase P30530 Q8N5L2_HUMAN true false Enzyme Homo_sapiens AXL 894 98366.0 5.11 ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate ["None"] ["None"] BC032229 21619004 Q8N5L2 Chromosome:19 19q13.1 AXL HGNC:905 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4518 CDBP04517 LYN protein Q6NUK7 Q6NUK7_HUMAN true false Enzyme Homo_sapiens LYN 582 65807.9 9.48 Involved in protein kinase activity ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate ["None"] ["None"] BC059394 37589566 LYN Chromosome:8 8q13 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4519 CDBP04518 Leucine-rich repeat serine/threonine-protein kinase 2 Q5S007 LRRK2_HUMAN true false Enzyme Homo_sapiens LRRK2 2527 286100.0 6.79 Involved in binding Probable protein kinase whose role is not yet known. May play a role in the phosphorylation of proteins central to Parkinson disease. May also have GTPase activity ["None"] ["None"] NM_198578.3 171846278 LRRK2 Chromosome:1 12q12 LRRK2 HGNC:18618 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4520 CDBP04519 Myosin-IIIb Q8WXR4 MYO3B_HUMAN true false Enzyme Homo_sapiens MYO3B 1341 151827.5 8.23 Involved in motor activity Probable actin-based motor with a protein kinase activity ["None"] ["None"] NM_138995.3 284172512 MYO3B Chromosome:2 2q31.1-q31.2 MYO3B HGNC:15576 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4521 CDBP04520 CSNK1A1 protein Q6PJ06 Q6PJ06_HUMAN true false Enzyme Homo_sapiens CSNK1A1 261 29825.3 10.29 Involved in protein kinase activity ["None"] ["None"] BC021971 33879234 CSNK1A1 Chromosome:5 5q32 CSNK1A1 HGNC:2451 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4522 CDBP04521 Casein kinase I isoform delta P48730 KC1D_HUMAN true false Enzyme Homo_sapiens CSNK1D 415 47329.7 10.2 Involved in protein kinase activity Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling. Central component of the circadian clock. May act as a negative regulator of circadian rhythmicity by phosphorylating PER1 and PER2. Retains PER1 in the cytoplasm ["None"] ["None"] 1CKJ AB091044 22759695 CSNK1D Chromosome:1 17q25 CSNK1D HGNC:2452 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4523 CDBP04522 Casein kinase I isoform epsilon P49674 KC1E_HUMAN true false Enzyme Homo_sapiens CSNK1E 416 47314.7 10.13 Involved in protein kinase activity Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. Can phosphorylate a large number of proteins. Participates in Wnt signaling. Phosphorylates DVL1. Central component of the circadian clock. May act as a negative regulator of circadian rhythmicity by phosphorylating PER1 and PER2. Retains PER1 in the cytoplasm. Inhibits cytokine-induced granuloytic differentiation ["None"] ["None"] 1CKJ L37043 CSNK1E Chromosome:2 22q13.1 CSNK1E HGNC:2453 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4524 CDBP04523 Casein kinase I isoform gamma-3 Q9Y6M4 KC1G3_HUMAN true false Enzyme Homo_sapiens CSNK1G3 447 51388.1 9.63 Involved in protein kinase activity Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling ["None"] ["None"] AF049089 4590040 CSNK1G3 Chromosome:5 5q23 CSNK1G3 HGNC:2456 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4525 CDBP04524 Putative uncharacterized protein Q59H88 Q59H88_HUMAN true false Enzyme Homo_sapiens 1433 160460.1 6.82 Involved in protein binding ["None"] ["None"] 1JKT AB208871 62087322 HGNC:2674 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4526 CDBP04525 Mixed lineage kinase domain-like protein Q8NB16 MLKL_HUMAN true false Enzyme Homo_sapiens MLKL 471 54478.6 9.15 Involved in protein kinase activity ["None"] ["None"] NM_152649.2 22749323 MLKL Chromosome:1 16q23.1 MLKL HGNC:26617 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4527 CDBP04526 AP2-associated protein kinase 1 Q2M2I8 AAK1_HUMAN true false Enzyme Homo_sapiens AAK1 961 103884.3 6.57 Involved in protein kinase activity Phosphorylates the AP2M1/mu2 subunit of the adaptor protein complex 2 (AP-2). May play a role in regulating aspects of clathrin-mediated endocytosis ["None"] ["None"] NM_014911.3 148277037 AAK1 Chromosome:2 2p14 AAK1 HGNC:19679 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4528 CDBP04527 TRAF2 and NCK interacting kinase (TRAF2 and NCK interacting kinase, isoform CRA_g) Q9UKE5 A7E2A3_HUMAN true false Enzyme Homo_sapiens TNIK 1360 154945.0 7.16 ["None"] ["None"] BC150256 152012527 A7E2A3 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4529 CDBP04528 PASK protein Q96RG2 Q05BE4_HUMAN true false Enzyme Homo_sapiens PASK 1143 123076.4 4.65 Involved in signal transducer activity ["None"] ["None"] 1LL8 BC050565 116283959 PASK Chromosome:2 2q37.3 PASK HGNC:17270 true 2020-06-12T23:07:26Z 2020-07-28T02:29:51Z 0 0 1 4530 CDBP04529 HCG1641087 A0ZT99 A0ZT99_HUMAN true false Enzyme Homo_sapiens TSSK2 358 40938.8 9.13 Involved in protein kinase activity ["None"] ["None"] AB284523 119359929 TSSK2 Chromosome:2 22q11.21 TSSK2 HGNC:11401 true 2020-06-12T23:07:26Z 2020-07-28T02:29:51Z 0 1 0 4531 CDBP04530 Dual serine/threonine and tyrosine protein kinase Q6XUX3 DUSTY_HUMAN true false Enzyme Homo_sapiens DSTYK 929 105204.7 6.72 Involved in protein kinase activity May induce both caspase-dependent apoptosis and caspase- independent cell death ["None"] ["None"] NM_015375.2 40806179 DSTYK Chromosome:1 1q32.1 DSTYK HGNC:29043 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4532 CDBP04531 Cyclin-G-associated kinase O14976 GAK_HUMAN true false Enzyme Homo_sapiens GAK 1311 143189.2 5.47 Involved in heat shock protein binding Associates with cyclin G and CDK5. Seems to act as an auxilin homolog that is involved in the uncoating of clathrin- coated vesicles by Hsc70 in non-neuronal cells. Expression oscillates slightly during the cell cycle, peaking at G1 ["None"] ["None"] NM_005255.2 157384971 GAK Chromosome:4 4p16 GAK HGNC:4113 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4533 CDBP04532 Serine/threonine-protein kinase ULK3 Q6PHR2 ULK3_HUMAN true false Enzyme Homo_sapiens ULK3 472 53443.9 7.39 Involved in protein kinase activity ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] NM_001099436.1 150456432 ULK3 Chromosome:1 15q24.1 ULK3 HGNC:19703 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4534 CDBP04533 SFRS protein kinase 3 Q9UPE1 Q562F5_HUMAN true false Enzyme Homo_sapiens SRPK3 567 62013.6 7.27 Involved in protein kinase activity ["None"] ["None"] AK301749 194377696 SRPK3 SRPK3 HGNC:11402 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4535 CDBP04534 Homeodomain-interacting protein kinase 2 Q9H2X6 HIPK2_HUMAN true false Enzyme Homo_sapiens HIPK2 1198 130964.7 8.52 Involved in protein kinase activity Protein kinase acting as a corepressor of several transcription factors, including SMAD1 and POU4F1/Brn3a and probably NK homeodomain transcription factors. Inhibits cell growth and promotes apoptosis. Involved in transcriptional activation of TP53 and TP73. Phosphorylation of TP53 may be mediated by a TP53-HIPK2-AXIN1 complex. In response to TGFB, cooperates with DAXX to activate JNK. Phosphorylates the antiapoptotic factor CTBP1 and promotes its proteasomal degradation. In the Wnt/beta-catenin signaling pathway acts as an intermediate kinase between TAK1 and NLK to promote the proteasomal degradation of MYB. Phosphorylates CBX4 upon DNA damage and promotes its E3 SUMO-protein ligase activity. PML, HIPK2 and FBXO3 may act synergically to activate p53/TP53-dependent transactivation ["None"] ["None"] NM_022740.4 164420685 HIPK2 Chromosome:7 7q32-q34 HIPK2 HGNC:14402 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4536 CDBP04535 Myosin light chain kinase family member 4 Q86YV6 MYLK4_HUMAN true false Enzyme Homo_sapiens MYLK4 388 44507.5 6.2 Involved in protein serine/threonine kinase activity ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] NM_001012418.3 167466233 MYLK4 Chromosome:6 6p25.2 MYLK4 HGNC:27972 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4537 CDBP04536 Interleukin-1 receptor-associated kinase-like 2 O43187 IRAK2_HUMAN true false Enzyme Homo_sapiens IRAK2 625 69432.5 5.45 Involved in protein binding Binds to the IL-1 type I receptor following IL-1 engagement, triggering intracellular signaling cascades leading to transcriptional up-regulation and mRNA stabilization ["None"] ["None"] NM_001570.3 58530886 IRAK2 Chromosome:3 3p25.3 IRAK2 HGNC:6113 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4538 CDBP04537 Serine/threonine-protein kinase SBK1 Q52WX2 SBK1_HUMAN true false Enzyme Homo_sapiens SBK1 424 46251.3 9.47 Involved in protein kinase activity May be involved in signal-transduction pathways related to the control of brain development ["None"] ["None"] AY874862 62005104 SBK1 Chromosome:1 16p11.2 SBK1 HGNC:17699 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4539 CDBP04538 LIM domain kinase 2 P53671 Q7L3H5_HUMAN true false Enzyme Homo_sapiens LIMK2 686 77884.8 7.04 Involved in protein binding ["None"] ["None"] BC013051 15341774 LIMK2 Chromosome:2 22q12.2 LIMK2 HGNC:6614 true 2020-06-12T23:07:26Z 2020-07-28T02:29:52Z 0 1 0 4540 CDBP04539 Eukaryotic translation initiation factor 2-alpha kinase 4 Q9P2K8 E2AK4_HUMAN true false Enzyme Homo_sapiens EIF2AK4 1649 186908.9 6.22 Involved in aminoacyl-tRNA ligase activity Can phosphorylate the alpha subunit of EIF2 and may mediate translational control ["None"] ["None"] NM_001013703.2 65287717 EIF2AK4 Chromosome:1 15q15.1 EIF2AK4 HGNC:19687 true 2020-06-12T23:07:26Z 2020-07-28T02:29:52Z 0 0 1 4541 CDBP04540 Interleukin-1 receptor associated kinase-4 Q69FE3 Q69FE3_HUMAN true false Enzyme Homo_sapiens IRAK4 460 51529.3 5.06 Involved in protein binding ["None"] ["None"] AY340962 37727959 IRAK4 Chromosome:1 12q12 IRAK4 HGNC:17967 true 2020-06-12T23:07:26Z 2020-07-28T02:29:52Z 0 1 0 4542 CDBP04541 Putative uncharacterized protein VRK3 Q8IV63 A6NEG5_HUMAN true false Enzyme Homo_sapiens VRK3 424 47501.1 9.31 Involved in protein kinase activity ["None"] ["None"] NM_001025778.1 71164888 VRK3 Chromosome:1 19q13 VRK3 HGNC:18996 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4543 CDBP04542 Serine/threonine-protein kinase TAO3 Q9H2K8 TAOK3_HUMAN true false Enzyme Homo_sapiens TAOK3 898 105405.2 7.31 Involved in protein kinase activity Inhibits the basal activity of Jun kinase. Negatively regulated by epidermal growth factor (EGF). When overexpressed, may activate ERK1/ERK2 and JNK/SAPK ["None"] ["None"] AF135158 9956930 TAOK3 Chromosome:1 12q TAOK3 HGNC:18133 true 2020-06-12T23:07:26Z 2020-06-12T23:07:26Z 0 0 0 4544 CDBP04543 Putative uncharacterized protein DKFZp547K1617 (Casein kinase 1, gamma 1) (HCG2004507, isoform CRA_a) Q9HCP0 Q5JPH1_HUMAN true false Enzyme Homo_sapiens DKFZp547K1617 422 48512.0 9.34 ["None"] ["None"] BC130613 120660290 Q5JPH1 DKFZp547K1617 HGNC:2454 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4545 CDBP04544 Protein kinase Q9H4D1 Q9H4D1_HUMAN true false Enzyme Homo_sapiens dik 784 86407.0 7.24 Involved in protein kinase activity ["None"] ["None"] AJ278016 9886711 dik dik HGNC:496 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4546 CDBP04545 E3 ubiquitin-protein ligase RFWD3 Q6PCD5 RFWD3_HUMAN true false Enzyme Homo_sapiens RFWD3 774 85093.1 6.43 Involved in protein binding E3 ubiquitin-protein ligase that mediates the ubiquitination of p53/TP53 in the late response to DNA damage, and acts as a positive regulator of p53/TP53 stability, thereby regulating the G1/S DNA damage checkpoint. May act by catalyzing the formation of short polyubiquitin chains on p53/TP53 that are not targeted to the proteasome. In response to ionizing radiation, interacts with MDM2 and enhances p53/TP53 ubiquitination, possibly by restricting MDM2 from extending polyubiquitin chains on ubiquitinated p53/TP53 ["None"] ["None"] NM_018124.3 71143112 RFWD3 Chromosome:1 16q23.1 RFWD3 HGNC:25539 true 2020-06-12T23:07:27Z 2020-07-28T02:29:53Z 0 1 0 4547 CDBP04546 Putative uncharacterized protein BMP2K Q4W5H2 Q4W5H2_HUMAN true false Enzyme Homo_sapiens BMP2K 662 73838.0 8.0 Involved in protein kinase activity ["None"] ["None"] AC098818 63991248 BMP2K Chromosome:4 4q21.21 BMP2K HGNC:18041 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4548 CDBP04547 TAO kinase 1 (TAO kinase 1, isoform CRA_a) Q7L7X3 A2RUT8_HUMAN true false Enzyme Homo_sapiens TAOK1 1001 116072.0 7.71 ["None"] ["None"] 1U5R BC133039 124376680 A2RUT8 Chromosome:17 17q11.2 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4549 CDBP04548 Putative uncharacterized protein RPS6KA1 A6NND1 A6NND1_HUMAN true false Enzyme Homo_sapiens RPS6KA1 18 2089.4 3.78 ["None"] ["None"] RPS6KA1 Chromosome:1 1p RPS6KA1 HGNC:10430 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4550 CDBP04549 Putative uncharacterized protein WNK2 A8MQ23 A8MQ23_HUMAN true false Enzyme Homo_sapiens WNK2 763 79057.6 5.99 Cell cycle control, cell division, chromosome partitioning ["None"] ["None"] WNK2 Chromosome:9 9q22.3 WNK2 HGNC:14542 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4551 CDBP04550 Aurora/Ipl1-related kinase 3 transcript variant 1 Q9UQB9 Q6DLZ0_HUMAN true false Enzyme Homo_sapiens AURKC 290 33671.8 9.05 Involved in protein kinase activity ["None"] ["None"] AY661554 49338210 AURKC Chromosome:1 19q13.43 AURKC HGNC:11391 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4552 CDBP04551 Cell division cycle 7-related protein kinase O00311 CDC7_HUMAN true false Enzyme Homo_sapiens CDC7 574 63887.6 8.99 Involved in protein kinase activity Seems to phosphorylate critical substrates that regulate the G1/S phase transition and/or DNA replication. Can phosphorylates MCM2 and MCM3 ["None"] ["None"] AB003698 2102637 CDC7 Chromosome:1 1p22 CDC7 HGNC:1745 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4553 CDBP04552 Testis-specific serine kinase 1 A0ZT98 A0ZT98_HUMAN true false Enzyme Homo_sapiens TSSK1 367 41617.5 7.79 Involved in protein kinase activity ["None"] ["None"] AB284522 119359927 TSSK1 TSSK1 HGNC:14968 true 2020-06-12T23:07:27Z 2020-07-28T02:29:53Z 0 1 0 4554 CDBP04553 Serine/threonine kinase 24 (STE20 homolog, yeast) Q5U0E6 Q5U0E6_HUMAN true false Enzyme Homo_sapiens STK24 431 47912.9 5.08 Involved in protein kinase activity ["None"] ["None"] AL137249 57160731 STK24 Chromosome:1 13q31.2-q32.3 STK24 HGNC:11403 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4555 CDBP04554 Microtubule-associated serine/threonine-protein kinase-like Q96GX5 MASTL_HUMAN true false Enzyme Homo_sapiens MASTL 879 97318.1 5.84 Involved in protein serine/threonine kinase activity Putative serine/threonine kinase which may be involved in megakaryocyte differentiation ["None"] ["None"] NM_001172303.1 288806587 MASTL Chromosome:1 10p12.1 MASTL HGNC:19042 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4556 CDBP04555 Serine/threonine-protein kinase H2 Q96QS6 KPSH2_HUMAN true false Enzyme Homo_sapiens PSKH2 385 43026.2 10.11 Involved in protein kinase activity ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] AY037806 14346040 PSKH2 Chromosome:8 8q21.3 PSKH2 HGNC:18997 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4557 CDBP04556 Receptor-interacting serine/threonine-protein kinase 1 Q13546 RIPK1_HUMAN true false Enzyme Homo_sapiens RIPK1 671 75930.3 6.29 Involved in protein binding Essential adapter molecule for the activation of NF- kappa-B. Following different upstream signals (binding of inflammatory cytokines, stimulation of pathogen recognition receptors, or DNA damage), particular RIPK1-containing complexes are formed, initiating a limited number of cellular responses. Upon TNFA stimulation RIPK1 is recruited to a TRADD-TRAF complex initiated by TNFR1 trimerization. There, it is ubiquitinated via 'Lys-63'-link chains, inducing its association with the IKK complex, and its activation through NEMO binding of polyubiquitin chains ["None"] ["None"] NM_003804.3 57242761 RIPK1 Chromosome:6 6p25.2 RIPK1 HGNC:10019 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4558 CDBP04557 U4/U6 small nuclear ribonucleoprotein Prp4 O43172 PRP4_HUMAN true false Enzyme Homo_sapiens PRPF4 522 58448.7 7.44 Involved in RNA splicing Involved in pre-mRNA splicing ["None"] ["None"] NM_004697.3 24431950 PRPF4 Chromosome:9 9q31-q33 PRPF4 HGNC:17349 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4559 CDBP04558 TAOK2 protein A0PJ48 A0PJ48_HUMAN true false Enzyme Homo_sapiens TAOK2 762 87758.4 7.74 Involved in protein kinase activity ["None"] ["None"] 1U5R BC015204 118142813 TAOK2 Chromosome:1 16p11.2 TAOK2 HGNC:16835 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4560 CDBP04559 Eukaryotic translation initiation factor 2-alpha kinase 3 Q9NZJ5 A0AVH1_HUMAN true false Enzyme Homo_sapiens EIF2AK3 1116 125261.0 5.12 ["None"] ["None"] BC126354 116497041 A0AVH1 EIF2AK3 HGNC:3255 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4561 CDBP04560 Serine/threonine-protein kinase ULK2 Q8IYT8 ULK2_HUMAN true false Enzyme Homo_sapiens ULK2 1036 112693.2 8.62 Involved in protein kinase activity ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] NM_001142610.1 217330559 ULK2 Chromosome:1 17p11.2 ULK2 HGNC:13480 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4562 CDBP04561 STE20-like serine/threonine-protein kinase Q9H2G2 SLK_HUMAN true false Enzyme Homo_sapiens SLK 1235 142694.0 4.8 Involved in protein kinase activity Mediates apoptosis and actin stress fiber dissolution ["None"] ["None"] NM_014720.2 41281453 SLK Chromosome:1 10q24.33 SLK HGNC:11088 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4563 CDBP04562 Pyruvate dehydrogenase kinase, isoenzyme 4 A4D1H4 A4D1H4_HUMAN true false Enzyme Homo_sapiens PDK4 411 46468.8 6.65 Involved in ATP binding ["None"] ["None"] AK312424 189065495 PDK4 Chromosome:7 7q21.3 PDK4 HGNC:8812 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4564 CDBP04563 Branched chain ketoacid dehydrogenase kinase, isoform CRA_c A8MY43 A8MY43_HUMAN true false Enzyme Homo_sapiens BCKDK 365 41089.1 9.11 Involved in ATP binding ["None"] ["None"] 1GKZ NM_001122957.1 171906593 BCKDK Chromosome:1 16p11.2 BCKDK HGNC:16902 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4565 CDBP04564 Inhibitor of nuclear factor kappa-B kinase subunit epsilon Q14164 IKKE_HUMAN true false Enzyme Homo_sapiens IKBKE 716 80461.7 7.9 Involved in protein kinase activity Phosphorylates inhibitors of NF-kappa-B thus leading to the dissociation of the inhibitor/NF-kappa-B complex and ultimately the degradation of the inhibitor. May play a special role in the immune response. Protects cells against DNA damage- induced cell death ["None"] ["None"] AB016590 6012176 IKBKE Chromosome:1 1q32.1 IKBKE HGNC:14552 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4566 CDBP04565 Serine/threonine-protein kinase N3 Q6P5Z2 PKN3_HUMAN true false Enzyme Homo_sapiens PKN3 889 99419.8 8.56 Involved in protein serine/threonine kinase activity Contributes to invasiveness in malignant prostate cancer ["None"] ["None"] AB019692 6088096 PKN3 Chromosome:9 9q34.11 PKN3 HGNC:17999 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4567 CDBP04566 G protein-coupled receptor kinase 7 Q8WTQ7 GRK7_HUMAN true false Enzyme Homo_sapiens GRK7 553 62211.0 6.52 Involved in protein serine/threonine kinase activity Phosphorylates cone opsins thereby initiating their deactivation ["None"] ["None"] AF282269 17026318 GRK7 Chromosome:3 3q24 GRK7 HGNC:17031 true 2020-06-12T23:07:27Z 2020-07-28T02:29:55Z 1 0 0 4568 CDBP04567 Cyclin-dependent kinase 6 A4D1G0 A4D1G0_HUMAN true false Enzyme Homo_sapiens CDK6 326 36938.0 6.43 Involved in protein kinase activity ["None"] ["None"] 1G3N AK313491 189069241 CDK6 Chromosome:7 7q21-q22 CDK6 HGNC:1777 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4569 CDBP04568 Cell division protein kinase 20 Q8IZL9 CDK20_HUMAN true false Enzyme Homo_sapiens CDK20 346 38694.5 6.75 Involved in protein kinase activity Required for high-level Shh responses in the developing neural tube. Together with BROMI, controls the structure of the primary cilium by coordinating assembly of the ciliary membrane and axoneme, allowing GLI2 to be properly activated in response to SHH signaling. Involved in cell growth. Activates CDK2, a kinase involved in the control of the cell cycle, by phosphorylating residue 'Thr-160' ["None"] ["None"] AF547664 23344742 CDK20 Chromosome:9 9q22.1 CDK20 HGNC:21420 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4570 CDBP04569 Cyclin-dependent kinase-like 4 Q5MAI5 CDKL4_HUMAN true false Enzyme Homo_sapiens CDKL4 315 36222.7 8.87 Involved in protein kinase activity ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] AY845084 56790912 CDKL4 Chromosome:2 2p22.1 CDKL4 HGNC:19287 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4571 CDBP04570 Cyclin-dependent kinase-like 3 Q8IVW4 CDKL3_HUMAN true false Enzyme Homo_sapiens CDKL3 592 67513.3 9.88 Involved in protein kinase activity ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] NM_001113575.1 166064027 CDKL3 Chromosome:5 5q31 CDKL3 HGNC:15483 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4572 CDBP04571 PFTAIRE protein kinase 1 (PFTAIRE protein kinase 1, isoform CRA_c) (cDNA FLJ75582, highly similar to Homo sapiens PFTAIRE protein kinase 1 (PFTK1), mRNA) O94921 A4D1E6_HUMAN true false Enzyme Homo_sapiens PFTK1 451 50662.0 9.07 ["None"] ["None"] BC152436 156230156 A4D1E6 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4573 CDBP04572 MAPK/MAK/MRK overlapping kinase Q9UQ07 MOK_HUMAN true false Enzyme Homo_sapiens RAGE 419 48013.4 10.1 Involved in protein kinase activity Able to phosphorylate several exogenous substrates and to undergo autophosphorylation ["None"] ["None"] AB022694 5139689 RAGE Chromosome:1 14q32 RAGE HGNC:9833 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4574 CDBP04573 Mitogen-activated protein kinase 15 Q8TD08 MK15_HUMAN true false Enzyme Homo_sapiens MAPK15 544 59831.6 9.18 Involved in MAP kinase activity In vitro, phosphorylates MBP ["None"] ["None"] AY065978 MAPK15 MAPK15 HGNC:24667 true 2020-06-12T23:07:27Z 2020-07-28T02:29:55Z 1 0 0 4575 CDBP04574 Tau-tubulin kinase 2 Q6IQ55 TTBK2_HUMAN true false Enzyme Homo_sapiens TTBK2 1244 137411.2 7.0 Involved in protein kinase activity Serine/threonine kinase which is able to phosphorylate tau on serines ["None"] ["None"] NM_173500.3 116812624 TTBK2 Chromosome:1 15q15.2 TTBK2 HGNC:19141 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4576 CDBP04575 Dual specificity tyrosine-phosphorylation-regulated kinase 1A Q13627 DYR1A_HUMAN true false Enzyme Homo_sapiens DYRK1A 763 85583.4 8.98 Involved in protein kinase activity May play a role in a signaling pathway regulating nuclear functions of cell proliferation. Phosphorylates serine, threonine and tyrosine residues in its sequence and in exogenous substrates ["None"] ["None"] NM_001396.3 18765758 DYRK1A Chromosome:2 21q22.13 DYRK1A HGNC:3091 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4577 CDBP04576 Lymphokine-activated killer T-cell-originated protein kinase Q96KB5 TOPK_HUMAN true false Enzyme Homo_sapiens PBK 322 36084.7 4.75 Involved in protein kinase activity Phosphorylates MAP kinase p38. Seems to be active only in mitosis. May also play a role in the activation of lymphoid cells. When phosphorylated, forms a complex with TP53, leading to TP53 destabilization and attenuation of G2/M checkpoint during doxorubicin-induced DNA damage ["None"] ["None"] AB027249 9211008 PBK Chromosome:8 8p21.2 PBK HGNC:18282 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4578 CDBP04577 Mitogen-activated protein kinase kinase 1 A4QPA9 A4QPA9_HUMAN true false Enzyme Homo_sapiens MAP2K1 393 43438.6 6.61 Involved in protein kinase activity ["None"] ["None"] 1S9J AK291500 158256432 MAP2K1 Chromosome:1 15q22.1-q22.33 MAP2K1 HGNC:6840 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4579 CDBP04578 Dual specificity mitogen-activated protein kinase kinase 2 P36507 MP2K2_HUMAN true false Enzyme Homo_sapiens MAP2K2 400 44423.7 6.52 Involved in protein kinase activity Catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in a Thr-Glu-Tyr sequence located in MAP kinases. Activates the ERK1 and ERK2 MAP kinases ["None"] ["None"] 1S9I BC000471 12653403 MAP2K2 Chromosome:1 19p13.3 MAP2K2 HGNC:6842 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4580 CDBP04579 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 (T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3, isoform CRA_c) Q13488 Q8WVC5_HUMAN true false Enzyme Homo_sapiens TCIRG1 830 92969.0 7.13 Energy production and conversion ["None"] ["None"] BC018133 17390298 Q8WVC5 Chromosome:11 11q13.2 TCIRG1 HGNC:11647 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4581 CDBP04580 Putative uncharacterized protein ATP6V1E1 P36543 A8MUE4_HUMAN true true Enzyme Homo_sapiens ATP6V1E1 204 23587.2 9.47 Involved in proton-transporting ATPase activity, rotational mechanism ["None"] ["None"] NM_001039366.1 87159816 ATP6V1E1 Chromosome:2 22pter-q11.2|22q11.1 ATP6V1E1 HGNC:857 true 2020-06-12T23:07:27Z 2020-07-28T02:29:57Z 0 0 0 4582 CDBP04581 Vacuolar-type H(+)-ATPase Q53X12 Q53X12_HUMAN true true Enzyme Homo_sapiens 831 95750.3 6.67 Involved in hydrogen ion transmembrane transporter activity ["None"] ["None"] L78933 18653904 HGNC:865 true 2020-06-12T23:07:27Z 2020-07-28T02:29:57Z 0 0 0 4583 CDBP04582 ATPase, H+ transporting, lysosomal accessory protein 1 (ATPase, H+ transporting, lysosomal accessory protein 1, isoform CRA_d) (cDNA FLJ78461, highly similar to Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 1 (ATP6AP1), mRNA) (Fragment Q15904 A6ZKI4_HUMAN true true Enzyme Homo_sapiens ATP6AP1 470 52026.0 6.05 ["None"] ["None"] AK289452 158259927 A6ZKI4 true 2020-06-12T23:07:27Z 2020-07-28T02:29:57Z 0 0 0 4584 CDBP04583 ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F A4D1K0 A4D1K0_HUMAN true true Enzyme Homo_sapiens ATP6V1F 119 13370.1 5.19 Involved in proton-transporting ATPase activity, rotational mechanism ["None"] ["None"] AK312214 189053355 ATP6V1F Chromosome:7 7q32 ATP6V1F HGNC:16832 true 2020-06-12T23:07:27Z 2020-07-28T02:29:57Z 0 0 0 4585 CDBP04584 NADH dehydrogenase (Ubiquinone) 1 beta subcomplex, 2, 8kDa A4D1T5 A4D1T5_HUMAN true false Enzyme Homo_sapiens NDUFB2 105 12058.4 5.55 ["None"] ["None"] NM_004546.2 4758778 NDUFB2 Chromosome:7 7q34 NDUFB2 HGNC:7697 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4586 CDBP04585 CP protein A5PL27 A5PL27_HUMAN true false Enzyme Homo_sapiens CP 1065 122204.4 5.5 Involved in oxidoreductase activity ["None"] ["None"] 1KCW BC142714 148744392 CP Chromosome:3 3q23-q25 CP HGNC:2295 true 2020-06-12T23:07:27Z 2020-07-28T02:29:57Z 0 1 0 4587 CDBP04586 DNA (cytosine-5)-methyltransferase 3-like Q9UJW3 DNM3L_HUMAN true false Enzyme Homo_sapiens DNMT3L 387 Involved in zinc ion binding Catalytically inactive regulatory factor of DNA methyltransferases. It is essential for the function of DNMT3A and DNMT3B. Activates DNMT3A and DNMT3B by binding to their catalytic domain. Accelerates the binding of DNA and AdoMet to the methyltransferases and dissociates from the complex after DNA binding to the methyltransferases. Recognizes unmethylated histone H3 lysine 4 (H3K4) and induces de novo DNA methylation by recruitment or activation of DNMT3. 2PV0;2PVC;2QRV AF194032 6180116 DNMT3L DNMT3L HGNC:2980 true hsa:29947 NP_037501.2:NM_013369.3;NP_787063.1:NM_175867.2 Expressed at low levels in several tissues including testis, ovary, and thymus. Homodimer. Heterotetramer composed of 1 DNMT3A homodimer and 2 DNMT3L subunits (DNMT3L-DNMT3A-DNMT3A-DNMT3L). Interacts with histone H3 (via N-terminus) 2020-06-12T23:07:27Z 2020-07-28T02:29:57Z 0 1 1 4588 CDBP04587 Histone-lysine N-methyltransferase EZH1 Q92800 EZH1_HUMAN true false Enzyme Homo_sapiens EZH1 747 85270.37 7.729 Involved in DNA binding Polycomb group (PcG) protein. Catalytic subunit of the PRC2/EED-EZH1 complex, which methylates 'Lys-27' of histone H3, leading to transcriptional repression of the affected target gene. Able to mono-, di- and trimethylate 'Lys-27' of histone H3 to form H3K27me1, H3K27me2 and H3K27me3, respectively. Required for embryonic stem cell derivation and self-renewal, suggesting that it is involved in safeguarding embryonic stem cell identity. Compared to EZH1-containing complexes, it is less abundant in embryonic stem cells, has weak methyltransferase activity and plays a less critical role in forming H3K27me3, which is required for embryonic stem cell identity and proper differentiation. NM_001991.3 19923202 EZH1 17 17q21.1-q21.3 EZH1 HGNC:3526 true hsa:2145 NP_001982.2:NM_001991.3 Component of the PRC2/EED-EZH1 complex, which includes EED, EZH1, SUZ12, RBBP4 and AEBP2. The PRC2/EED-EZH1 is less abundant than the PRC2/EED-EZH2 complex, has weak methyltransferase activity and compacts chromatin in the absence of the methyltransferase cofactor S-adenosyl-L-methionine (SAM) 2020-06-12T23:07:27Z 2020-07-28T02:29:58Z 0 0 1 4589 CDBP04588 Histone acetyltransferase KAT6B Q8WYB5 MYST4_HUMAN true false Enzyme Homo_sapiens KAT6B 2073 211535.955 5.357 Involved in DNA binding Histone acetyltransferase which may be involved in both positive and negative regulation of transcription. Required for RUNX2-dependent transcriptional activation. May be involved in cerebral cortex development. Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. NM_012330.2 100816397 MYST4 10 10q22.2 MYST4 HGNC:17582 true hsa:23522 NP_001243397.1:NM_001256468.1;NP_001243398.1:NM_001256469.1;NP_036462.2:NM_012330.3 Ubiquitously expressed, with high levels in heart, pancreas, testis and ovary. Component of the MOZ/MORF complex composed at least of ING5, KAT6A, KAT6B, MEAF6 and one of BRPF1, BRD1/BRPF2 and BRPF3. Interacts with RUNX1 and RUNX2 2020-06-12T23:07:27Z 2020-07-28T02:29:58Z 0 1 1 4590 CDBP04589 MYST3 protein A5PKX7 A5PKX7_HUMAN true false Enzyme Homo_sapiens MYST3 1149 131768.3 8.54 Involved in DNA binding ["None"] ["None"] BC142659 148745647 MYST3 Chromosome:8 8p11 MYST3 HGNC:13013 true 2020-06-12T23:07:27Z 2020-07-28T02:29:58Z 0 1 1 4591 CDBP04590 Histone acetyltransferase KAT8 Q9H7Z6 MYST1_HUMAN true false Enzyme Homo_sapiens KAT8 458 52402.345 8.267 Involved in chromatin binding Histone acetyltransferase which may be involved in transcriptional activation. May influence the function of ATM. As part of the MSL complex it is involved in acetylation of nucleosomal histone H4 producing specifically H4K16ac. As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues. That activity is less specific than the one of the MSL complex. 2GIV;2PQ8;2Y0M;3QAH;3TOA;3TOB;4DNC NM_032188.2 226371636 MYST1 16 16p11.2 MYST1 HGNC:17933 true hsa:84148 NP_115564.2:NM_032188.2;NP_892003.2:NM_182958.2 Component of a multisubunit histone acetyltransferase complex (MSL) at least composed of the MOF/KAT8, MSL1/hampin, MSL2L1 and MSL3L1. Component of the NSL complex at least composed of MOF/KAT8, KANSL1, KANSL2, KANSL3, MCRS1, PHF20, OGT1/OGT, WDR5 and HCFC1. Component of some MLL1/MLL complex, at least composed of the core components MLL, ASH2L, HCFC1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, MOF/KAT8, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Interacts with the chromodomain of MORF4L1/MRG15. Interacts with ATM through the chromodomain. Interacts with KANSL1; the interaction is direct 2020-06-12T23:07:27Z 2020-07-28T02:29:59Z 0 1 1 4592 CDBP04591 Histone acetyltransferase type B catalytic subunit O14929 Q6P594_HUMAN true false Enzyme Homo_sapiens HAT1 334 49512.19 5.699 Involved in histone acetyltransferase activity Acetylates soluble but not nucleosomal histone H4 at 'Lys-5' (H4K5ac) and 'Lys-12' (H4K12ac) and, to a lesser extent, acetylates histone H2A at 'Lys-5' (H2AK5ac). Has intrinsic substrate specificity that modifies lysine in recognition sequence GXGKXG. May be involved in nucleosome assembly during DNA replication and repair as part of the histone H3.1 and H3.3 complexes. May play a role in DNA repair in response to free radical damage. 2P0W BC063003 38614185 HAT1 2 2q31.2-q33.1 HAT1 HGNC:4821 true hsa:8520 NP_003633.1:NM_003642.3 Catalytic subunit of the type B histone acetlytransferase (HAT) complex, composed of RBBP7 and HAT1. Interacts with histones H4 and H2A. The interaction is dependent of the ability of RBBP7 to bind to the N-terminus of histones. Component of the histone H3.1 and H3.3 complexes 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4593 CDBP04592 Aminopeptidase B Q9H4A4 AMPB_HUMAN true false Enzyme Homo_sapiens RNPEP 650 72595.1 5.52 Involved in binding Exopeptidase which selectively removes arginine and/or lysine residues from the N-terminus of several peptide substrates including Arg(0)-Leu-enkephalin, Arg(0)-Met-enkephalin and Arg(- 1)-Lys(0)-somatostatin-14. Can hydrolyze leukotriene A4 (LTA-4) into leukotriene B4 (LTB-4) ["None"] ["None"] NM_020216.3 40316915 RNPEP Chromosome:1 1q32 RNPEP HGNC:10078 true 2020-06-12T23:07:27Z 2020-07-28T02:29:59Z 0 1 0 4594 CDBP04593 Mast cell carboxypeptidase A P15088 CBPA3_HUMAN true false Enzyme Homo_sapiens CPA3 417 48699.5 9.38 Involved in metallocarboxypeptidase activity Release of a C-terminal amino acid, but little or no action with -Asp, -Glu, -Arg, -Lys or -Pro ["1-15"] ["None"] NM_001870.2 221316749 CPA3 Chromosome:3 3q21-q25 CPA3 HGNC:2298 true 2020-06-12T23:07:27Z 2020-07-28T02:29:59Z 0 1 0 4595 CDBP04594 Carboxypeptidase A6 Q8N4T0 CBPA6_HUMAN true false Enzyme Homo_sapiens CPA6 437 51007.5 9.89 Involved in metallocarboxypeptidase activity Release of a C-terminal amino acid, but little or no action with -Asp, -Glu, -Arg, -Lys or -Pro ["1-30"] ["None"] NM_020361.4 188536067 CPA6 Chromosome:8 8q13.2 CPA6 HGNC:17245 true 2020-06-12T23:07:27Z 2020-07-28T02:30:00Z 0 1 0 4596 CDBP04595 Carboxypeptidase A5 A4D1M2 A4D1M2_HUMAN true false Enzyme Homo_sapiens CPA5 436 49035.4 6.71 Involved in metallocarboxypeptidase activity ["None"] ["None"] NM_001127441.1 188536053 CPA5 Chromosome:7 7q32 CPA5 HGNC:15722 true 2020-06-12T23:07:27Z 2020-07-28T02:30:00Z 0 1 0 4597 CDBP04596 Carboxypeptidase B P15086 CBPB1_HUMAN true false Enzyme Homo_sapiens CPB1 417 47367.1 6.59 Involved in metallocarboxypeptidase activity Preferential release of a C-terminal lysine or arginine amino acid ["1-15"] ["None"] 1KWM AJ224866 2960072 CPB1 Chromosome:3 3q24 CPB1 HGNC:2299 true 2020-06-12T23:07:27Z 2020-07-28T02:30:00Z 0 1 0 4598 CDBP04597 Carboxypeptidase B2 Q96IY4 CBPB2_HUMAN true false Enzyme Homo_sapiens CPB2 423 48411.8 7.77 Involved in metallocarboxypeptidase activity Cleaves C-terminal arginine or lysine residues from biologically active peptides such as kinins or anaphylatoxins in the circulation thereby regulating their activities ["1-22"] ["None"] NM_001872.3 126273569 CPB2 Chromosome:1 13q14.11 CPB2 HGNC:2300 true 2020-06-12T23:07:27Z 2020-07-28T02:30:00Z 0 1 0 4599 CDBP04598 Carboxypeptidase D O75976 CBPD_HUMAN true false Enzyme Homo_sapiens CPD 1380 152929.9 5.95 Involved in carboxypeptidase activity Releases C-terminal Arg and Lys from polypeptides ["1-31"] ["1300-1320"] BC045549 28374245 CPD Chromosome:1 17q11.2 CPD HGNC:2301 true 2020-06-12T23:07:27Z 2020-07-28T02:30:00Z 0 1 0 4600 CDBP04599 A disintegrin and metalloproteinase with thrombospondin motifs 2 O95450 ATS2_HUMAN true false Enzyme Homo_sapiens ADAMTS2 1211 134753.7 7.15 Involved in metalloendopeptidase activity Cleaves the propeptides of type I and II collagen prior to fibril assembly. Does not act on type III collagen. May also play a role in development that is independent of its role in collagen biosynthesis ["1-29"] ["None"] NM_014244.4 110825974 ADAMTS2 Chromosome:5 5qter ADAMTS2 HGNC:218 true 2020-06-12T23:07:27Z 2020-07-28T02:30:00Z 0 1 0 4601 CDBP04600 Insulin-degrading enzyme P14735 IDE_HUMAN true false Enzyme Homo_sapiens IDE 1019 117967.5 6.59 Involved in catalytic activity Plays a role in the cellular breakdown of insulin, IAPP, glucagon, bradykinin, kallidin and other peptides, and thereby plays a role in intercellular peptide signaling. Degrades amyloid formed by APP and IAPP. May play a role in the degradation and clearance of naturally secreted amyloid beta-protein by neurons and microglia ["None"] ["None"] M21188 184556 IDE Chromosome:1 10q23-q25 IDE HGNC:5381 true 2020-06-12T23:07:27Z 2020-07-28T02:30:01Z 0 1 0 4602 CDBP04601 Carbonic anhydrase 6 P23280 CAH6_HUMAN true false Enzyme Homo_sapiens CA6 308 35366.615 7.027 Involved in carbonate dehydratase activity Reversible hydration of carbon dioxide. Its role in saliva is unknown. 3FE4 M57892 179732 CA6 1 1p36.2 CA6 HGNC:1380 true hsa:765 NP_001206.2:NM_001215.3 Major constituent of saliva. Zinc 2020-06-12T23:07:27Z 2020-07-28T02:30:01Z 0 1 0 4603 CDBP04602 Putative hydroxypyruvate isomerase Q5T013 HYI_HUMAN true false Enzyme Homo_sapiens HYI 277 30405.4 5.496 Carbohydrate transport and metabolism Catalyzes the reversible isomerization between hydroxypyruvate and 2-hydroxy-3-oxopropanoate (also termed tartronate semialdehyde) (By similarity). NM_001190880.1 300068962 HYI 1 1p34.2 HYI HGNC:26948 true hsa:81888 NP_001177809.1:NM_001190880.2;NP_001230455.1:NM_001243526.1;NP_112484.3:NM_031207.5 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4604 CDBP04603 Protein tyrosine phosphatase domain-containing protein 1 A2A3K4 PTPC1_HUMAN true false Enzyme Homo_sapiens PTPDC1 754 84456.0 7.57 Involved in phosphatase activity ["None"] ["None"] NM_177995.1 30089950 PTPDC1 Chromosome:9 9q22.32 PTPDC1 HGNC:30184 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4605 CDBP04604 Protein tyrosine phosphatase receptor type D Q2HXI4 Q2HXI4_HUMAN true false Enzyme Homo_sapiens PTPRD 1912 214784.5 6.54 Involved in phosphatase activity Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate ["None"] ["None"] 1LAR AB211400 88687760 PTPRD Chromosome:9 9p23-p24.3 PTPRD HGNC:9668 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4606 CDBP04605 Receptor-type tyrosine-protein phosphatase H Q9HD43 PTPRH_HUMAN true false Enzyme Homo_sapiens PTPRH 1115 103411.89 5.513 Involved in phosphatase activity May contribute to contact inhibition of cell growth and motility by mediating the dephosphorylation of focal adhesion-associated substrates and thus negatively regulating integrin-promoted signaling processes. Induces apoptotic cell death by at least two distinct mechanisms: inhibition of cell survival signaling mediated by PI 3-kinase, Akt, and ILK and activation of a caspase-dependent proapoptotic pathway. Inhibits the basal activity of LCK and its activation in response to TCR stimulation and TCR-induced activation of MAP kinase and surface expression of CD69. Inhibits TCR-induced tyrosine phosphorylation of LAT and ZAP70. Inhibits both basal activity of DOK1 and its CD2-induced tyrosine phosphorylation. Induces dephosphorylation of p130cas, focal adhesion kinase and c-Src. Reduces migratory activity of Jurkat cells. NM_002842.3 241896924 PTPRH 19 19q13.4 PTPRH HGNC:9672 true hsa:5794 NP_001154912.1:NM_001161440.1;NP_002833.3:NM_002842.3 Expressed at high levels in the brain, spleen and liver and at lower levels in the heart and stomach. Expressed in pancreatic and colorectal cancer cells, but not in normal pancreas or colon. Expression in hepatocellular carcinoma is related to the differentiation status of the tumor and expression is inversely related to tumor aggressiveness. Homodimer; disulfide-linked (Probable). Interacts with LCK 2020-06-12T23:07:27Z 2020-07-28T02:30:01Z 1 0 0 4607 CDBP04606 PTPRM protein A7MBN1 A7MBN1_HUMAN true false Enzyme Homo_sapiens PTPRM 1465 165074.9 6.59 Involved in phosphatase activity Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate ["None"] ["None"] 1RPM BC151842 156230467 PTPRM Chromosome:1 18p11.2 PTPRM HGNC:9675 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4608 CDBP04607 Receptor-type tyrosine-protein phosphatase-like N Q16849 PTPRN_HUMAN true false Enzyme Homo_sapiens PTPRN 979 105846.5 7.12 Involved in phosphatase activity Implicated in neuroendocrine secretory processes. May be involved in processes specific for neurosecretory granules, such as their biogenesis, trafficking or regulated exocytosis or may have a general role in neuroendocrine functions. Seems to lack intrinsic enzyme activity. May play a role in the regulation of secretory granules via its interaction with SNTB2 ["1-34"] ["576-600"] AC114803 62988650 PTPRN Chromosome:2 2q35-q36.1 PTPRN HGNC:9676 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4609 CDBP04608 Protein tyrosine phosphatase, receptor type, sigma isoform 3 variant Q59FX6 Q59FX6_HUMAN true false Enzyme Homo_sapiens 1560 174654.5 7.02 Involved in phosphatase activity Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate ["None"] ["None"] AB209333 62088246 HGNC:9681 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4610 CDBP04609 Carboxylesterase 5A Q6NT32 EST7_HUMAN true false Enzyme Homo_sapiens CES5A 575 63925.82 6.442 Lipid transport and metabolism Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs (By similarity). NM_001143685.1 219521907 CES7 16 16q12.2 CES7 HGNC:26459 true hsa:221223 NP_001137157.1:NM_001143685.1;NP_001177087.1:NM_001190158.1;NP_659461.1:NM_145024.2 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4611 CDBP04610 D-dopachrome decarboxylase P30046 DOPD_HUMAN true false Enzyme Homo_sapiens DDT 118 12711.605 7.295 Involved in D-dopachrome decarboxylase activity Tautomerization of D-dopachrome with decarboxylation to give 5,6-dihydroxyindole (DHI). 1DPT;3KAN AF012434 2352915 DDT 22 22q11.23 DDT HGNC:2732 true hsa:1652 NP_001077861.1:NM_001084392.1;NP_001346.1:NM_001355.3 Homotrimer 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4612 CDBP04611 Peroxiredoxin-4 Q13162 PRDX4_HUMAN true false Enzyme Homo_sapiens PRDX4 271 30539.6 6.286 Involved in antioxidant activity Probably involved in redox regulation of the cell. Regulates the activation of NF-kappa-B in the cytosol by a modulation of I-kappa-B-alpha phosphorylation. 2PN8;3TJB;3TJF;3TJG;3TJJ;3TJK;3TKP;3TKQ;3TKR;3TKS BC003609 13177646 PRDX4 X Xp22.11 PRDX4 HGNC:17169 true hsa:10549 NP_006397.1:NM_006406.1 Homodimer or heterodimer with PRDX1; disulfide-linked, upon oxidation 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4613 CDBP04612 Carboxymethylenebutenolidase homolog Q96DG6 CMBL_HUMAN true false Enzyme Homo_sapiens CMBL 245 Involved in hydrolase activity Cysteine hydrolase. Can convert the prodrug olmesartan medoxomil into its pharmacologically active metabolite olmerstatan, an angiotensin receptor blocker, in liver and intestine. May also activate beta-lactam antibiotics faropenem medoxomil and lenampicillin. AJ278125 27526513 CMBL CMBL HGNC:25090 true hsa:134147 NP_620164.1:NM_138809.3 Widely expressed, with highest levels in liver, followed by kidney, small intestine and colon. Present in liver and intestine (at protein level). 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4614 CDBP04613 Ubiquitin carboxyl-terminal hydrolase 16 Q9Y5T5 UBP16_HUMAN true false Enzyme Homo_sapiens USP16 823 93569.6 6.93 Involved in ubiquitin thiolesterase activity Specifically deubiquitinates histone H2A, a specific tag for epigenetic transcriptional repression, thereby acting as a coactivator. Deubiquitination of histone H2A is a prerequisite for subsequent phosphorylation at 'Ser-10' of histone H3, and is required for chromosome segregation when cells enter into mitosis. Regulates Hox gene expression via histone H2A deubiquitination. Prefers nucleosomal substrates. Does not deubiquitinate histone H2B ["None"] ["None"] NM_001032410.1 75992941 USP16 Chromosome:2 21q22.11 USP16 HGNC:12614 true 2020-06-12T23:07:27Z 2020-07-28T02:30:03Z 0 1 0 4615 CDBP04614 STAM-binding protein O95630 STABP_HUMAN true false Enzyme Homo_sapiens STAMBP 424 48076.5 6.24 Involved in metal ion binding Zinc metalloprotease that specifically cleaves 'Lys-63'- linked polyubiquitin chains. Does not cleave 'Lys-48'-linked polyubiquitin chains. Functions at the endosome and is able to oppose the ubiquitin-dependent sorting of receptors to lysosomes. Plays a role in signal transduction for cell growth and MYC induction mediated by IL-2 and GM-CSF. Potentiates BMP (bone morphogenetic protein) signaling by antagonizing the inhibitory action of SMAD6 and SMAD7 ["None"] ["None"] AC073046 62630163 STAMBP Chromosome:2 2p13.1 STAMBP HGNC:16950 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4616 CDBP04615 Ubiquitin carboxyl-terminal hydrolase Q53Y90 Q53Y90_HUMAN true false Enzyme Homo_sapiens Em:AC008079.1 372 43010.4 7.84 Involved in ubiquitin thiolesterase activity Ubiquitin C-terminal thioester + H(2)O = ubiquitin + a thiol ["None"] ["None"] AK313385 189066636 Em:AC008079.1 Em:AC008079.1 HGNC:12616 true 2020-06-12T23:07:27Z 2020-06-12T23:07:27Z 0 0 0 4617 CDBP04616 Ubiquitin carboxyl-terminal hydrolase 51 Q70EK9 UBP51_HUMAN true false Enzyme Homo_sapiens USP51 711 79755.2 8.44 Involved in ubiquitin thiolesterase activity Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C- terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal) ["None"] ["None"] AJ583823 40788183 USP51 USP51 HGNC:23086 true 2020-06-12T23:07:27Z 2020-07-28T02:30:03Z 0 1 0 4618 CDBP04617 Ubiquitin carboxyl-terminal hydrolase 33 Q8TEY7 UBP33_HUMAN true false Enzyme Homo_sapiens USP33 942 106726.0 5.91 Involved in ubiquitin thiolesterase activity Deubiquitinating enzyme involved in various processes such as cellular migration and beta-2 adrenergic receptor/ADRB2 recycling. Involved in cell migration via its interaction with intracellular domain of ROBO1, leading to regulate the Slit signaling. Plays a role in commissural axon guidance cross the ventral midline of the neural tube in a Slit-dependent manner, possibly by mediating the deubiquitination of ROBO1. Acts as a regulator of G-protein coupled receptor (GPCR) signaling by mediating the deubiquitination of beta-arrestins (ARRB1 and ARRB2) and beta-2 adrenergic receptor (ADRB2). Plays a central role in ADRB2 recycling and resensitization after prolonged agonist stimulation by constitutively binding ADRB2, mediating deubiquitination of ADRB2 and inhibiting lysosomal trafficking of ADRB2. Upon dissociation, it is probably transferred to the translocated beta-arrestins, leading to beta-arrestins deubiquitination and disengagement from ADRB2. This suggests the existence of a dynamic exchange between the ADRB2 and beta- arrestins. Deubiquitinates DIO2, thereby regulating thyroid hormone regulation. Mediates deubiquitination of both 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains ["None"] ["None"] NM_015017.3 42516567 USP33 Chromosome:1 1p31.1 USP33 HGNC:20059 true 2020-06-12T23:07:27Z 2020-07-28T02:30:03Z 0 1 0 4619 CDBP04618 Ubiquitin carboxyl-terminal hydrolase 22 Q9UPT9 UBP22_HUMAN true false Enzyme Homo_sapiens USP22 525 59960.1 8.09 Involved in ubiquitin thiolesterase activity Histone deubiquitinating component of the transcription regulatory histone acetylation (HAT) complex SAGA. Catalyzes the deubiquitination of both histones H2A and H2B, thereby acting as a coactivator. Recruited to specific gene promoters by activators such as MYC, where it is required for transcription. Required for nuclear receptor-mediated transactivation and cell cycle progression ["None"] ["None"] NM_015276.1 150010639 USP22 Chromosome:1 17p11.2 USP22 HGNC:12621 true 2020-06-12T23:07:28Z 2020-07-28T02:30:04Z 0 1 0 4620 CDBP04619 Ubiquitin carboxyl-terminal hydrolase 47 Q96K76 UBP47_HUMAN true false Enzyme Homo_sapiens USP47 1375 157266.9 4.72 Involved in ubiquitin thiolesterase activity Putative ubiquitin-specific-processing protease that regulates cell growth and survival. Probably regulates CDC25A expression at a transcriptional level. May be catalytically inactive although it seems to have kept all necessary active site residues ["None"] ["None"] 71774197 USP47 Chromosome:1 11p15.3 USP47 HGNC:20076 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4621 CDBP04620 Ubiquitin carboxyl-terminal hydrolase 40 Q9NVE5 UBP40_HUMAN true false Enzyme Homo_sapiens USP40 1235 140128.4 5.4 Involved in ubiquitin thiolesterase activity May be catalytically inactive ["None"] ["None"] 41055953 USP40 Chromosome:2 2q37.1 USP40 HGNC:20069 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4622 CDBP04621 Ubiquitin carboxyl-terminal hydrolase 35 Q9P2H5 UBP35_HUMAN true false Enzyme Homo_sapiens USP35 1017 113346.8 5.28 Involved in binding Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C- terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal) ["None"] ["None"] AJ586137 40788031 USP35 Chromosome:1 11q14.1 USP35 HGNC:20061 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4623 CDBP04622 Ubiquitin carboxyl-terminal hydrolase 36 Q9P275 UBP36_HUMAN true false Enzyme Homo_sapiens USP36 1121 122650.6 10.28 Involved in ubiquitin thiolesterase activity May be required for maintaining multiple types of adult stem cells. May function as a transcriptional repressor by continually deubiquiting histone H2B at the promoters of genes critical for cellular differentiation, thereby preventing histone H3 'Lys-4' trimethylation (H3K4) ["None"] ["None"] 122114651 USP36 Chromosome:1 17q25.3 USP36 HGNC:20062 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4624 CDBP04623 Ubiquitin carboxyl-terminal hydrolase 29 Q9HBJ7 UBP29_HUMAN true false Enzyme Homo_sapiens USP29 922 104155.2 5.74 Involved in ubiquitin thiolesterase activity Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C- terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal) ["None"] ["None"] AF229438 9971757 USP29 Chromosome:1 19q13.43 USP29 HGNC:18563 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4625 CDBP04624 Ubiquitin carboxyl-terminal hydrolase 46 P62068 UBP46_HUMAN true false Enzyme Homo_sapiens USP46 366 42442.1 6.82 Involved in ubiquitin thiolesterase activity Deubiquitinating enzyme that plays a role in behavior, possibly by regulating GABA action. May act by mediating the deubiquitination of GAD1/GAD67. Has almost no deubiquitinating activity by itself and requires the interaction with WDR48 to have a high activity. Not involved in deubiquitination of monoubiquitinated FANCD2 ["None"] ["None"] AK022614 10434108 USP46 Chromosome:4 4q12 USP46 HGNC:20075 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4626 CDBP04625 Ubiquitin carboxyl-terminal hydrolase 1 O94782 UBP1_HUMAN true false Enzyme Homo_sapiens USP1 785 88206.5 5.13 Involved in ubiquitin thiolesterase activity Negative regulator of DNA damage repair which specifically deubiquitinates monoubiquitinated FANCD2. Also involved in PCNA-mediated translesion synthesis (TLS) by deubiquitinating monoubiquitinated PCNA. Has almost no deubiquitinating activity by itself and requires the interaction with WDR48 to have a high activity ["None"] ["None"] AB014458 3928762 USP1 Chromosome:1 1p31.3 USP1 HGNC:12607 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4627 CDBP04626 Ubiquitin carboxyl-terminal hydrolase 7 Q93009 UBP7_HUMAN true false Enzyme Homo_sapiens USP7 1102 128301.3 5.24 Involved in ubiquitin thiolesterase activity Hydrolase that deubiquitinates target proteins such as FOXO4, TP53, MDM2, PTEN and DAXX. Together with DAXX, prevents MDM2 self-ubiquitination and enhances the E3 ligase activity of MDM2 towards TP53, thereby promoting TP53 ubiquitination and proteasomal degradation. Deubiquitinates TP53 and MDM2 and strongly stabilizes TP53 even in the presence of excess MDM2, and also induces TP53-dependent cell growth repression and apoptosis. Deubiquitination of FOXO4 in presence of hydrogen peroxide is not dependent on TP53 and inhibits FOXO4-induced transcriptional activity. In association with DAXX, is involved in the deubiquitination and translocation of PTEN from the nucleus to the cytoplasm, both processes that are counteracted by PML. Involved in cell proliferation during early embryonic development. Contributes to the overall stabilization and trans-activation capability of the herpesvirus 1 trans-acting transcriptional protein ICP0/VMW110 during HSV-1 infection ["None"] ["None"] 1NBF NM_003470.2 150378533 USP7 Chromosome:1 16p13.3 USP7 HGNC:12630 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4628 CDBP04627 Ubiquitin carboxyl-terminal hydrolase 5 P45974 UBP5_HUMAN true false Enzyme Homo_sapiens USP5 858 95785.4 4.65 Involved in ubiquitin thiolesterase activity Cleaves linear and branched multiubiquitin polymers with a marked preference for branched polymers. Involved in unanchored 'Lys-48'-linked polyubiquitin disassembly. Binds linear and 'Lys- 63'-linked polyubiquitin with a lower affinity. Knock-down of USP5 causes the accumulation of TP53/p53 and an increase in TP53/p53 transcriptional activity because the unanchored polyubiquitin that accumulates is able to compete with ubiquitinated TP53/p53 but not with MDM2 for proteasomal recognition ["None"] ["None"] NM_001098536.1 148727331 USP5 Chromosome:1 12p13 USP5 HGNC:12628 true 2020-06-12T23:07:28Z 2020-07-28T02:30:05Z 0 1 0 4629 CDBP04628 Probable ubiquitin carboxyl-terminal hydrolase FAF-X Q93008 USP9X_HUMAN true false Enzyme Homo_sapiens USP9X 2547 289538.0 5.51 Involved in binding Deubiquitinase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins. May therefore play an important role regulatory role at the level of protein turnover by preventing degradation of proteins through the removal of conjugated ubiquitin. Essential component of TGF-beta/BMP signaling cascade. Regulates chromosome alignment and segregation in mitosis by regulating the localization of BIRC5/survivin to mitotic centromeres. Specifically hydrolyzes both 'Lys-29'- and 'Lys-33'-linked polyubiquitins chains. Specifically deubiquitinates monoubiquitinated SMAD4, opposing the activity of E3 ubiquitin-protein ligase TRIM33 ["None"] ["None"] NM_001039591 145309311 USP9X USP9X HGNC:12632 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4630 CDBP04629 Probable ubiquitin carboxyl-terminal hydrolase FAF-Y O00507 USP9Y_HUMAN true false Enzyme Homo_sapiens USP9Y 2555 291074.2 5.68 Involved in binding May function as a ubiquitin-protein or polyubiquitin hydrolase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins. May therefore play an important role regulatory role at the level of protein turnover by preventing degradation of proteins through the removal of conjugated ubiquitin. Essential component of TGF-beta/BMP signaling cascade. Deubiquitinates monoubiquitinated SMAD4, opposing the activity of E3 ubiquitin-protein ligase TRIM33. Monoubiquitination of SMAD4 hampers its ability to form a stable complex with activated SMAD2/3 resulting in inhibition of TGF- beta/BMP signaling cascade. Deubiqitination of SMAD4 by USP9X re- empowers its competence to mediate TGF-beta signaling ["None"] ["None"] NM_004654.3 74319833 USP9Y USP9Y HGNC:12633 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4631 CDBP04630 Ubiquitin carboxyl-terminal hydrolase 26 Q9BXU7 UBP26_HUMAN true false Enzyme Homo_sapiens USP26 913 104046.2 8.96 Involved in ubiquitin thiolesterase activity Involved in the ubiquitin-dependent proteolytic pathway in conjunction with the 26S proteasome. Deubiquinates the androgen receptor and regulates the androgen receptor signaling pathway ["None"] ["None"] AF285593 13603869 USP26 USP26 HGNC:13485 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4632 CDBP04631 Ubiquitin carboxyl-terminal hydrolase 32 Q8NFA0 UBP32_HUMAN true false Enzyme Homo_sapiens USP32 1604 181654.1 6.4 Involved in calcium ion binding Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C- terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal) ["None"] ["None"] AF533230 22532405 USP32 Chromosome:1 17q23.3 USP32 HGNC:19143 true 2020-06-12T23:07:28Z 2020-07-28T02:30:06Z 0 1 0 4633 CDBP04632 Ubiquitin carboxyl-terminal hydrolase 30 Q70CQ3 UBP30_HUMAN true false Enzyme Homo_sapiens USP30 517 58502.4 8.34 Involved in ubiquitin thiolesterase activity May participate in the maintenance of mitochondrial morphology ["None"] ["36-56"] AJ586136 40788029 USP30 Chromosome:1 12q24.11 USP30 HGNC:20065 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4634 CDBP04633 Ubiquitin carboxyl-terminal hydrolase 13 Q92995 UBP13_HUMAN true false Enzyme Homo_sapiens USP13 863 97326.3 5.22 Involved in ubiquitin thiolesterase activity Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C- terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal) ["None"] ["None"] BC016146 16359380 USP13 Chromosome:3 3q26.2-q26.3 USP13 HGNC:12611 true 2020-06-12T23:07:28Z 2020-07-28T02:30:06Z 0 1 0 4635 CDBP04634 Ubiquitin carboxyl-terminal hydrolase 6 P35125 UBP6_HUMAN true false Enzyme Homo_sapiens USP6 1406 158656.8 7.75 Involved in ubiquitin thiolesterase activity Deubiquitinase with an ATP-independent isopeptidase activity, cleaving at the C-terminus of the ubiquitin moiety. Catalyzes its own deubiquitination. In vitro, isoform 2, but not isoform 3, shows deubiquitinating activity. Promotes plasma membrane localization of ARF6 and selectively regulates ARF6- dependent endocytic protein trafficking. Is able to initiate tumorigenesis by inducing the production of matrix metalloproteinases following NF-kappa-B activation ["None"] ["None"] AY143550 24474450 USP6 Chromosome:1 17p13 USP6 HGNC:12629 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4636 CDBP04635 Ubiquitin carboxyl-terminal hydrolase 10 Q14694 UBP10_HUMAN true false Enzyme Homo_sapiens USP10 798 87133.1 4.96 Involved in ubiquitin thiolesterase activity Hydrolase that can remove conjugated ubiquitin from target proteins such as p53/TP53, SNX3 and CFTR. Acts as an essential regulator of p53/TP53 stability:in unstressed cells, specifically deubiquitinates p53/TP53 in the cytoplasm, leading to counteract MDM2 action and stabilize p53/TP53. Following DNA damage, translocates to the nucleus and deubiquitinates p53/TP53, leading to regulate the p53/TP53-dependent DNA damage response. Does not deubiquitinate MDM2. Deubiquitinates CFTR in early endosomes, enhancing its endocytic recycling ["None"] ["None"] NM_005153.2 119220605 USP10 Chromosome:1 16q24.1 USP10 HGNC:12608 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4637 CDBP04636 Ubiquitin carboxyl-terminal hydrolase 8 P40818 UBP8_HUMAN true false Enzyme Homo_sapiens USP8 1118 127522.2 8.75 Involved in ubiquitin thiolesterase activity Hydrolase that can remove conjugated ubiquitin from proteins and therefore plays an important regulatory role at the level of protein turnover by preventing degradation. Converts both 'Lys-48' an 'Lys-63'-linked ubiquitin chains. Catalytic activity is enhanced in the M phase. Involved in cell proliferation. Required to enter into S phase in response to serum stimulation. May regulate T-cell anergy mediated by RNF128 via the formation of a complex containing RNF128 and OTUB1. Probably regulates the stability of STAM2 and RASGRF1. Regulates endosomal ubiquitin dynamics, cargo sorting, membrane traffic at early endosomes, and maintenance of ESCRT-0 stability. The level of protein ubiquitination on endosomes is essential for maintaining the morphology of the organelle. Deubiquitinates EPS15 and controles tyrosine kinase stability. Removes conjugated ubiquitin from EGFR thus regulating EGFR degradation and downstream MAPK signaling. Involved in acrosome biogenesis through interaction with the spermatid ESCRT-0 complex and microtubules ["None"] ["None"] 1WHB BC110590 83405557 USP8 Chromosome:1 15q21.2 USP8 HGNC:12631 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4638 CDBP04637 Ubiquitin carboxyl-terminal hydrolase 15 Q9Y4E8 UBP15_HUMAN true false Enzyme Homo_sapiens USP15 981 112418.1 4.84 Involved in ubiquitin thiolesterase activity Protease that degrades 'Lys-48'-linked polyubiquitin chains. Protects target proteins against proteasomal degradation. Protects APC and human papillomavirus type 16 protein E6 against degradation via the ubiquitin proteasome pathway ["None"] ["None"] AF153604 5231133 USP15 Chromosome:1 12q14 USP15 HGNC:12613 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4639 CDBP04638 Ubiquitin carboxyl-terminal hydrolase 3 Q9Y6I4 UBP3_HUMAN true false Enzyme Homo_sapiens USP3 520 58896.6 8.23 Involved in ubiquitin thiolesterase activity Hydrolase that deubiquitinates monoubiquitinated target proteins such as histone H2A and H2B. Required for proper progression through S phase and subsequent mitotic entry. May regulate the DNA damage response (DDR) checkpoint through deubiquitination of H2A at DNA damage sites. Associates with the chromatin ["None"] ["None"] NM_006537.2 55770886 USP3 Chromosome:1 15q22.3 USP3 HGNC:12626 true 2020-06-12T23:07:28Z 2020-07-28T02:30:07Z 0 1 0 4640 CDBP04639 Lysozyme-like protein 1 Q6UWQ5 LYZL1_HUMAN true false Enzyme Homo_sapiens LYZL1 148 16654.0 8.14 Involved in lysozyme activity Hydrolysis of (1->4)-beta-linkages between N- acetylmuramic acid and N-acetyl-D-glucosamine residues in a peptidoglycan and between N-acetyl-D-glucosamine residues in chitodextrins ["1-19"] ["None"] AY358694 37182510 LYZL1 Chromosome:1 10p12.1 LYZL1 HGNC:30502 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4641 CDBP04640 Pterin-4-alpha-carbinolamine dehydratase 2 Q9H0N5 PHS2_HUMAN true false Enzyme Homo_sapiens PCBD2 130 14365.325 9.115 Involved in 4-alpha-hydroxytetrahydrobiopterin dehydratase activity Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2 (By similarity). Regulates the dimerization of homeodomain protein HNF-1-alpha and enhances its transcriptional activity. NM_032151.4 134133240 PCBD2 5 5q31.1 PCBD2 HGNC:24474 true hsa:84105 NP_115527.3:NM_032151.4 Homotetramer. Interacts with DYRK1B 2020-06-12T23:07:28Z 2020-07-28T02:30:08Z 0 0 1 4642 CDBP04641 NOS1 mutant B3VK56 B3VK56_HUMAN true false Enzyme Homo_sapiens NOS1 1434 160969.1 7.44 Involved in oxidoreductase activity ["None"] ["None"] 1TLL NM_000620.3 10835173 NOS1 Chromosome:1 12q24.2-q24.31 NOS1 HGNC:7872 true 2020-06-12T23:07:28Z 2020-07-28T02:30:08Z 0 1 0 4643 CDBP04642 Putative uncharacterized protein ACP1 B5MCC7 B5MCC7_HUMAN true false Enzyme Homo_sapiens ACP1 112 12230.0 7.85 Involved in protein tyrosine phosphatase activity ["None"] ["None"] NM_001040649.2 96304457 ACP1 Chromosome:2 2p25 ACP1 HGNC:122 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4644 CDBP04643 Calcium/calmodulin-dependent protein kinase I, isoform CRA_a B0YIY3 B0YIY3_HUMAN true false Enzyme Homo_sapiens CAMK1 370 41336.7 4.92 Involved in protein kinase activity ["None"] ["None"] 1A06 AK314917 189067446 CAMK1 Chromosome:3 3p25.3 CAMK1 HGNC:1459 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4645 CDBP04644 Serine/threonine-protein phosphatase B3KUN1 B3KUN1_HUMAN true false Enzyme Homo_sapiens PPP2CA 309 35593.9 5.22 Involved in hydrolase activity A phosphoprotein + H(2)O = a protein + phosphate ["None"] ["None"] AB451240 197692181 PPP2CA Chromosome:5 5q31.1 PPP2CA HGNC:9299 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4646 CDBP04645 Casein kinase 2 beta polypeptide P67870 B0UXA9_HUMAN true false Enzyme Homo_sapiens CSNK2B 215 24942.2 5.29 Involved in protein kinase regulator activity ["None"] ["None"] 1JWH AK311860 189053179 CSNK2B Chromosome:6 6p21-p12|6p21.3 CSNK2B HGNC:2460 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4647 CDBP04646 V-akt murine thymoma viral oncogene homolog 1 B0LPE5 B0LPE5_HUMAN true false Enzyme Homo_sapiens AKT1 480 55686.0 5.96 Involved in protein serine/threonine kinase activity ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] NM_001014431.1 62241013 AKT1 Chromosome:1 14q32.32|14q32.32 AKT1 HGNC:391 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4648 CDBP04647 WNK lysine deficient protein kinase 4 B0LPI0 B0LPI0_HUMAN true false Enzyme Homo_sapiens WNK4 1243 134737.7 5.15 Involved in protein kinase activity ["None"] ["None"] BC136664 223460150 WNK4 Chromosome:1 17q21-q22 WNK4 HGNC:14544 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4649 CDBP04648 Protein kinase, cAMP-dependent, catalytic, beta, isoform CRA_a B2RB89 B2RB89_HUMAN true false Enzyme Homo_sapiens PRKACB 351 40622.4 9.19 Involved in protein serine/threonine kinase activity ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] 1CTP AB451239 197692179 PRKACB Chromosome:1 1p36.1 PRKACB HGNC:9381 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4650 CDBP04649 Malonyl CoA:ACP acyltransferase (Mitochondrial) B0QY72 B0QY72_HUMAN true false Enzyme Homo_sapiens MCAT 180 19175.8 6.11 Involved in transferase activity ["None"] ["None"] AK314059 189054245 MCAT Chromosome:2 22q13.31 MCAT HGNC:29622 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4651 CDBP04650 Carboxypeptidase N, polypeptide 1 B1AP59 B1AP59_HUMAN true false Enzyme Homo_sapiens CPN1 458 52285.9 7.36 Involved in carboxypeptidase activity ["None"] ["None"] AK313972 189054167 CPN1 Chromosome:1 10q24.2 CPN1 HGNC:2312 true 2020-06-12T23:07:28Z 2020-07-28T02:30:09Z 0 1 0 4652 CDBP04651 Methionine-R-sulfoxide reductase B1 Q9NZV6 MSRB1_HUMAN true false Enzyme Homo_sapiens MSRB1 116 12760.095 8.364 Involved in peptide-methionine-(S)-S-oxide reductase activity 3MAO AE006640 14336773 SEPX1 16 16p13.3 SEPX1 HGNC:14133 true hsa:51734 NP_057416.1:NM_016332.2 zinc ion 2020-06-12T23:07:28Z 2020-07-28T02:30:09Z 0 1 0 4653 CDBP04652 Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase Q96IV0 NGLY1_HUMAN true false Enzyme Homo_sapiens NGLY1 654 74389.4 6.88 Involved in protein binding Specifically deglycosylates the denatured form of N- linked glycoproteins in the cytoplasm and assists their proteasome-mediated degradation. Cleaves the beta-aspartyl- glucosamine (GlcNAc) of the glycan and the amide side chain of Asn, converting Asn to Asp. Prefers proteins containing high- mannose over those bearing complex type oligosaccharides. Can recognize misfolded proteins in the endoplasmic reticulun that are exported in the cytosol to be destroyed and deglycosylate them, while it has no activity toward native proteins. Deglycosylation is prerequisite for subsequent proteasome-mediated degradation of some, but not all, misfolded glycoproteins ["None"] ["None"] NM_018297.3 21314690 NGLY1 Chromosome:3 3p24.2 NGLY1 HGNC:17646 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4654 CDBP04653 Glycerol-3-phosphate acyltransferase 2, mitochondrial Q6NUI2 GPAT2_HUMAN true false Enzyme Homo_sapiens GPAT2 795 87834.5 7.602 Involved in acyltransferase activity Esterifies acyl-group from acyl-ACP to the sn-1 position of glycerol-3-phosphate, an essential step in glycerolipid biosynthesis (By similarity). NM_207328.2 116812614 GPAT2 2 2q11.1 GPAT2 HGNC:27168 true hsa:150763 NP_997211.2:NM_207328.2 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4655 CDBP04654 Putative glycerol kinase 5 Q6ZS86 GLPK5_HUMAN true false Enzyme Homo_sapiens GK5 529 59155.64 6.899 Involved in phosphotransferase activity, alcohol group as acceptor NM_001039547.2 88196792 GK5 3 3q23 GK5 HGNC:28635 true hsa:256356 NP_001034636.1:NM_001039547.2 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4656 CDBP04655 Poly(ADP-ribose) glycohydrolase Q86W56 PARG_HUMAN true false Enzyme Homo_sapiens PARG 976 111109.5 6.39 Involved in poly(ADP-ribose) glycohydrolase activity Poly(ADP-ribose) synthesized after DNA damage is only present transiently and is rapidly degraded by poly(ADP-ribose) glycohydrolase. Poly(ADP-ribose) metabolism may be required for maintenance of the normal function of neuronal cells ["None"] ["None"] AF005043 2213922 PARG Chromosome:1 10q11.23 PARG HGNC:8605 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4657 CDBP04656 [Protein ADP-ribosylarginine] hydrolase P54922 ADPRH_HUMAN true false Enzyme Homo_sapiens ADPRH 357 39506.34 6.526 Involved in magnesium ion binding Catalyzes the reverse reaction of mono-ADP-ribosylation. 3HFW L13291 ADPRH 3 3q13.31-q13.33 ADPRH HGNC:269 true hsa:141 NP_001116.1:NM_001125.2 2020-06-12T23:07:28Z 2020-07-28T02:30:10Z 0 1 0 4658 CDBP04657 Cytosine-specific methyltransferase Q59FP7 Q59FP7_HUMAN true false Enzyme Homo_sapiens 1606 182018.2 7.69 Involved in DNA binding S-adenosyl-L-methionine + DNA = S-adenosyl-L- homocysteine + DNA containing 5-methylcytosine ["None"] ["None"] AB209413 62088406 HGNC:2976 true 2020-06-12T23:07:28Z 2020-07-28T02:30:11Z 0 1 1 4659 CDBP04658 Vitamin K epoxide reductase complex subunit 1-like protein 1 Q8N0U8 VKORL_HUMAN true false Enzyme Homo_sapiens VKORC1L1 176 19835.4 9.35 ["None"] ["17-37", "92-112", "114-134", "135-155"] AY423045 40217985 VKORC1L1 Chromosome:7 7q11.21 VKORC1L1 HGNC:21492 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4660 CDBP04659 Lysozyme-like protein 2 Q7Z4W2 LYZL2_HUMAN true false Enzyme Homo_sapiens LYZL2 148 16655.9 7.92 Involved in lysozyme activity Hydrolysis of (1->4)-beta-linkages between N- acetylmuramic acid and N-acetyl-D-glucosamine residues in a peptidoglycan and between N-acetyl-D-glucosamine residues in chitodextrins ["1-19"] ["None"] AF139543 33150788 LYZL2 Chromosome:1 10p11.23 LYZL2 HGNC:29613 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4661 CDBP04660 Sperm acrosome-associated protein 5 Q96QH8 LYZL5_HUMAN true false Enzyme Homo_sapiens SPACA5 159 17896.2 6.4 Involved in lysozyme activity Hydrolysis of (1->4)-beta-linkages between N- acetylmuramic acid and N-acetyl-D-glucosamine residues in a peptidoglycan and between N-acetyl-D-glucosamine residues in chitodextrins ["1-21"] ["None"] AF217622 33338536 SPACA5 SPACA5 HGNC:31353 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4662 CDBP04661 Lysozyme-like protein 6 O75951 LYZL6_HUMAN true false Enzyme Homo_sapiens LYZL6 148 16956.2 6.08 Involved in lysozyme activity Hydrolysis of (1->4)-beta-linkages between N- acetylmuramic acid and N-acetyl-D-glucosamine residues in a peptidoglycan and between N-acetyl-D-glucosamine residues in chitodextrins ["1-19"] ["None"] AF088219 3719367 LYZL6 Chromosome:1 17q11.2 LYZL6 HGNC:29614 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4663 CDBP04662 Protein farnesyltransferase subunit beta P49356 FNTB_HUMAN true false Enzyme Homo_sapiens FNTB 437 48773.2 5.815 Involved in catalytic activity Catalyzes the transfer of a farnesyl moiety from farnesyl pyrophosphate to a cysteine at the fourth position from the C-terminus of several proteins. The beta subunit is responsible for peptide-binding. 1JCQ;1LD7;1LD8;1MZC;1S63;1SA4;1TN6;2F0Y;2H6F;2H6G;2H6H;2H6I;2IEJ;3E37 L00635 FNTB 14 14q23.3 FNTB HGNC:3785 true hsa:2342 NP_002019.1:NM_002028.3 zinc ion Heterodimer of an alpha and a beta subunit 2020-06-12T23:07:28Z 2020-07-28T02:30:11Z 0 1 0 4664 CDBP04663 Alkaline ceramidase 1 Q8TDN7 ACER1_HUMAN true false Enzyme Homo_sapiens ACER1 264 31095.165 7.133 Involved in hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid at an optimal pH of 8.0. Has a highly restricted substrate specificity for the natural stereoisomer of ceramide with D-erythro-sphingosine but not D-ribo-phytosphingosine or D-erythro-dihydrosphingosine as a backbone. May have a role in regulating the levels of bioactive lipids ceramide and sphingosine 1-phosphate, as well as complex sphingolipids (By similarity). AF347024 19070367 ACER1 19 19p13.3 ACER1 HGNC:18356 true hsa:125981 NP_597999.1:NM_133492.2 Mainly expressed in epidermis. 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4665 CDBP04664 Mitochondrial Rho GTPase 1 Q8IXI2 MIRO1_HUMAN true false Enzyme Homo_sapiens RHOT1 618 70783.5 6.21 Involved in calcium ion binding Mitochondrial GTPase involved in mitochondrial trafficking. Probably involved in control of anterograde transport of mitochondria and their subcellular distribution ["None"] ["593-615"] NM_018307.3 75750470 RHOT1 Chromosome:1 17q11.2 RHOT1 HGNC:21168 true 2020-06-12T23:07:28Z 2020-07-28T02:30:12Z 0 1 0 4666 CDBP04665 Ninein Q8N4C6 NIN_HUMAN true false Enzyme Homo_sapiens NIN 2090 243288.5 4.7 Involved in calcium ion binding Centrosomal protein required in the positioning and anchorage of the microtubule minus-end in epithelial cells. May also act as a centrosome maturation factor. May play a role in microtubule nucleation. Overexpression does not perturb nucleation or elongation of microtubules but suppresses release of microtubules ["None"] ["None"] NM_182946.1 33946321 NIN Chromosome:1 14q22.1 NIN HGNC:14906 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4667 CDBP04666 Cancer-related nucleoside-triphosphatase Q9BSD7 CA057_HUMAN true false Enzyme Homo_sapiens NTPCR 190 20712.935 9.535 Involved in nucleotide binding Has nucleotide phosphatase activity towards ATP, GTP, CTP, TTP and UTP. Hydrolyzes nucleoside diphosphates with lower efficiency. 2I3B AF416713 16303796 C1orf57 1 1q42.2 C1orf57 HGNC:28204 true hsa:84284 NP_115700.1:NM_032324.1 Monomer 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4668 CDBP04667 Spliceosome RNA helicase DDX39B Q13838 UAP56_HUMAN true false Enzyme Homo_sapiens DDX39B 428 48990.945 5.668 Involved in nucleic acid binding Component of the THO subcomplex of the TREX complex. The TREX complex specifically associates with spliced mRNA and not with unspliced pre-mRNA. It is recruited to spliced mRNAs by a transcription-independent mechanism. Binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export. The recruitment occurs via an interaction between ALYREF/THOC4 and the cap-binding protein NCBP1. DDX39B functions as a bridge between ALYREF/THOC4 and the THO complex. The TREX complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. The recruitment of the TREX complex to the intronless viral mRNA occurs via an interaction between KSHV ORF57 protein and ALYREF/THOC4. Splice factor that is required for the first ATP-dependent step in spliceosome assembly and for the interaction of U2 snRNP with the branchpoint. Has both RNA-stimulated ATP binding/hydrolysis activity and ATP-dependent RNA unwinding activity. Even with the stimulation of RNA, the ATPase activity is weak. Can only hydrolyze ATP but not other NTPs. The RNA stimulation of ATPase activity does not have a strong preference for the sequence and length of the RNA. However, ssRNA stimulates the ATPase activity much more strongly than dsRNA. Can unwind 5' or 3' overhangs or blunt end RNA duplexes in vitro. The ATPase and helicase activities are not influenced by U2AF2 and ALYREF/THOC4. 1T5I;1T6N;1XTI;1XTJ;1XTK Z37166 587146 BAT1 6 6p21.3 BAT1 HGNC:13917 true hsa:7919 NP_004631.1:NM_004640.6;NP_542165.1:NM_080598.5 Homodimer, and heterodimer with DDX39A. Component of the THO complex, which is composed of THOC1, THOC2, THOC5, THOC6 and THOC7. Together with THOC3, ALYREF/THOC4 and DDX39B, THO forms the transcription/export (TREX) complex. Component of the spliceosome. Interacts directly with U2AF2. Interacts directly with ALYREF/THOC4 and is necessARy for ALYREF/THOC4 recruitment to spliced mRNA. Interacts with RBM8A, RNPS1 and SRRM1. Interacts with FYTTD1/UIF and THOC1. Interacts with human cytomegalovirus/HHV-5 protein UL69. Interacts with MX1 2020-06-12T23:07:28Z 2020-07-28T02:30:12Z 0 0 1 4669 CDBP04668 Putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16 O60231 DHX16_HUMAN true false Enzyme Homo_sapiens DHX16 1041 112453.87 6.92 Involved in nucleic acid binding Probable ATP-binding RNA helicase involved in pre-mRNA splicing. AB001601 3107913 DHX16 6 6p21.3 DHX16 HGNC:2739 true hsa:8449 NP_001157711.1:NM_001164239.1;NP_003578.2:NM_003587.4 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4670 CDBP04669 tRNA pseudouridine synthase-like 1 Q8N0Z8 PUSL1_HUMAN true false Enzyme Homo_sapiens PUSL1 303 33232.5 10.15 Involved in RNA binding tRNA uridine = tRNA pseudouridine ["None"] ["None"] AK075292 22761287 PUSL1 Chromosome:1 1p36.33 PUSL1 HGNC:26914 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4671 CDBP04670 Phospholipase D6 Q8N2A8 PLD6_HUMAN true false Enzyme Homo_sapiens PLD6 252 28272.3 9.67 Involved in catalytic activity A phosphatidylcholine + H(2)O = choline + a phosphatidate ["None"] ["5-27"] AK090899 21749147 PLD6 Chromosome:1 17p11.2 PLD6 HGNC:30447 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4672 CDBP04671 Gamma-aminobutyric acid receptor-associated protein-like 2 P60520 GBRL2_HUMAN true false Enzyme Homo_sapiens GABARAPL2 117 13666.7 8.43 Involved in ATPase binding Involved in intra-Golgi traffic. Modulates intra-Golgi transport through coupling between NSF activity and SNAREs activation. It first stimulates the ATPase activity of NSF which in turn stimulates the association with GOSR1 ["None"] ["None"] 1EO6 AB030710 12641849 GABARAPL2 Chromosome:1 16q22.1 GABARAPL2 HGNC:13291 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4673 CDBP04672 DNA-(apurinic or apyrimidinic site) lyase P27695 APEX1_HUMAN true false Enzyme Homo_sapiens APEX1 318 35554.2 8.26 Involved in DNA binding Repairs oxidative DNA damages in vitro. May have a role in protection against cell lethality and suppression of mutations. Removes the blocking groups from the 3'-termini of the DNA strand breaks generated by ionizing radiations and bleomycin ["None"] ["None"] 1HD7 X59764 32024 APEX1 Chromosome:1 14q11.2 APEX1 HGNC:587 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4674 CDBP04673 Glycylpeptide N-tetradecanoyltransferase Q96HI4 Q96HI4_HUMAN true false Enzyme Homo_sapiens NMT1 494 56603.6 7.91 Involved in glycylpeptide N-tetradecanoyltransferase activity Adds a myristoyl group to the N-terminal glycine residue of certain cellular proteins ["None"] ["None"] 1RXT BC008579 48257074 NMT1 Chromosome:1 17q21.31 NMT1 HGNC:7857 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4675 CDBP04674 2-oxoglutarate and iron-dependent oxygenase domain-containing protein 1 Q8N543 OGFD1_HUMAN true false Enzyme Homo_sapiens OGFOD1 542 63245.7 4.77 Involved in iron ion binding ["None"] ["None"] NM_018233.3 94536836 OGFOD1 Chromosome:1 16q12.2 OGFOD1 HGNC:25585 true 2020-06-12T23:07:28Z 2020-07-28T02:30:13Z 0 1 0 4676 CDBP04675 2-oxoglutarate and iron-dependent oxygenase domain-containing protein 2 Q6N063 OGFD2_HUMAN true false Enzyme Homo_sapiens OGFOD2 350 38996.1 5.44 Involved in iron ion binding ["None"] ["None"] AK094820 193787733 OGFOD2 Chromosome:1 12q24.31 OGFOD2 HGNC:25823 true 2020-06-12T23:07:28Z 2020-07-28T02:30:13Z 0 1 0 4677 CDBP04676 ATPase ASNA1 O43681 ASNA_HUMAN true false Enzyme Homo_sapiens ASNA1 348 38792.4 4.54 Involved in ATP binding ATPase required for the post-translational delivery of tail-anchored (TA) proteins to the endoplasmic reticulum. Recognizes and selectively binds the transmembrane domain of TA proteins in the cytosol. This complex then targets to the endoplasmic reticulum by membrane-bound receptors, where the tail- anchored protein is released for insertion. This process is regulated by ATP binding and hydrolysis. ATP binding drives the homodimer towards the closed dimer state, facilitating recognition of newly synthesized TA membrane proteins. ATP hydolysis is required for insertion. Subsequently, the homodimer reverts towards the open dimer state, lowering its affinity for the membrane-bound receptor, and returning it to the cytosol to initiate a new round of targeting. May be involved in insulin signaling ["None"] ["None"] AF047469 2905657 ASNA1 Chromosome:1 19q13.3 ASNA1 HGNC:752 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4678 CDBP04677 Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial Q9H0R6 QRSL1_HUMAN true false Enzyme Homo_sapiens QRSL1 528 57459.915 5.68 Involved in carbon-nitrogen ligase activity, with glutamine as amido-N-donor Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln). AK001851 7023375 QRSL1 6 6q21 QRSL1 HGNC:21020 true hsa:55278 NP_060762.3:NM_018292.4 Subunit of the heterotrimeric GatCAB amidotransferase (AdT) complex, composed of A (QRSL1), B (PET112) and C (GATC) subunits 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4679 CDBP04678 Aspartyl aminopeptidase Q9ULA0 DNPEP_HUMAN true false Enzyme Homo_sapiens DNPEP 475 52427.9 7.44 Involved in aminopeptidase activity Likely to play an important role in intracellular protein and peptide metabolism ["None"] ["None"] AF005050 DNPEP Chromosome:2 2q35 DNPEP HGNC:2981 true 2020-06-12T23:07:28Z 2020-07-28T02:30:14Z 0 1 0 4680 CDBP04679 Fructose-bisphosphate aldolase Q8NHT3 Q8NHT3_HUMAN true false Enzyme Homo_sapiens 316 34750.6 8.28 Involved in fructose-bisphosphate aldolase activity D-fructose 1,6-bisphosphate = glycerone phosphate + D-glyceraldehyde 3-phosphate ["None"] ["None"] 1QO5 BC029399 20809495 HGNC:417 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4681 CDBP04680 Chitinase family protein 3 Q2VT96 Q2VT96_HUMAN true false Enzyme Homo_sapiens 430 46615.5 4.81 Involved in chitin binding ["None"] ["None"] AY825504 61741895 HGNC:17432 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4682 CDBP04681 Chitinase family protein V2 Q1M0P3 Q1M0P3_HUMAN true false Enzyme Homo_sapiens 315 33762.3 5.26 Involved in chitin binding ["None"] ["None"] AY911311 62361795 HGNC:17432 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4683 CDBP04682 Chitinase family protein V1 Q1M0P4 Q1M0P4_HUMAN true false Enzyme Homo_sapiens 315 33747.3 5.26 Involved in chitin binding ["None"] ["None"] AY911310 62361793 HGNC:17432 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4684 CDBP04683 Putative uncharacterized protein PRPS2 A6NMS2 A6NMS2_HUMAN true false Enzyme Homo_sapiens PRPS2 147 16130.4 7.02 Nucleotide transport and metabolism ["None"] ["None"] PRPS2 PRPS2 HGNC:9465 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4685 CDBP04684 Ribose-phosphate pyrophosphokinase Q53FW2 Q53FW2_HUMAN true false Enzyme Homo_sapiens 318 34863.8 6.78 Involved in magnesium ion binding ATP + D-ribose 5-phosphate = AMP + 5-phospho- alpha-D-ribose 1-diphosphate ["None"] ["None"] AK223169 62897899 HGNC:9462 true 2020-06-12T23:07:28Z 2020-07-28T02:30:15Z 0 1 0 4686 CDBP04685 Ubiquitin carboxyl-terminal hydrolase 17 Q0WX57 UBP17_HUMAN true false Enzyme Homo_sapiens USP17A 530 59710.3 8.14 Involved in ubiquitin thiolesterase activity Functions in cell apoptosis. Cleaves ubiquitin fusion protein substrates. May also bind hyaluronan and RNA ["None"] ["None"] AF544011 33333160 USP17A USP17A HGNC:12615 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4687 CDBP04686 Alanine--tRNA ligase, mitochondrial Q5JTZ9 SYAM_HUMAN true false Enzyme Homo_sapiens AARS2 985 107325.46 6.261 Involved in nucleotide binding Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain (By similarity). NM_020745.2 38569417 AARS2 6 6p21.1 AARS2 HGNC:21022 true hsa:57505 NP_065796.1:NM_020745.3 zinc ion Monomer 2020-06-12T23:07:28Z 2020-07-28T02:30:15Z 0 1 0 4688 CDBP04687 Leucine carboxyl methyltransferase 1 Q9UIC8 LCMT1_HUMAN true false Enzyme Homo_sapiens LCMT1 334 32171.66 6.314 Involved in methyltransferase activity Methylates the carboxyl group of the C-terminal leucine residue of protein phosphatase 2A catalytic subunits to form alpha-leucine ester residues. 3IEI;3O7W;3P71 NM_016309.2 74048434 LCMT1 16 16p12.1 LCMT1 HGNC:17557 true hsa:51451 MONOMER-16510 NP_001027563.1:NM_001032391.1;NP_057393.2:NM_016309.2 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4689 CDBP04688 Peptidyl-prolyl cis-trans isomerase FKBP5 Q13451 FKBP5_HUMAN true false Enzyme Homo_sapiens FKBP5 457 51211.8 5.66 Involved in protein folding Interacts with functionally mature heterooligomeric progesterone receptor complexes along with HSP90 and TEBP ["None"] ["None"] 1KT0 AF194172 17998669 FKBP5 Chromosome:6 6p21.31 FKBP5 HGNC:3721 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4690 CDBP04689 Prostaglandin E synthase 3 Q15185 TEBP_HUMAN true false Enzyme Homo_sapiens PTGES3 160 18697.195 4.531 Involved in prostaglandin-E synthase activity Molecular chaperone that localizes to genomic response elements in a hormone-dependent manner and disrupts receptor-mediated transcriptional activation, by promoting disassembly of transcriptional regulatory complexes. 1EJF;1LG0 AK291945 158257322 PTGES3 12 12 PTGES3 HGNC:16049 true hsa:10728 NP_006592.3:NM_006601.5 Binds to the progesterone receptor. Interacts with TERT; the interaction, together with HSP90AA1, is required for correct assembly and stabilization of the telomerase holoenzyme complex 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4691 CDBP04690 Isoleucine--tRNA ligase, mitochondrial Q9NSE4 SYIM_HUMAN true false Enzyme Homo_sapiens IARS2 1012 113790.565 7.19 Involved in nucleotide binding NM_018060.3 46852147 IARS2 1 1q41 IARS2 HGNC:29685 true hsa:55699 NP_060530.3:NM_018060.3 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4692 CDBP04691 1,2-dihydroxy-3-keto-5-methylthiopentene dioxygenase Q9BV57 MTND_HUMAN true false Enzyme Homo_sapiens ADI1 179 21498.23 5.677 Involved in metal ion binding Catalyzes the formation of formate and 2-keto-4-methylthiobutyrate (KMTB) from 1,2-dihydroxy-3-keto-5-methylthiopentene (DHK-MTPene). Also down-regulates cell migration mediated by MMP14. Necessary for hepatitis C virus replication in an otherwise non-permissive cell line. AB158319 ADI1 2 2p25.3 ADI1 HGNC:30576 true hsa:55256 NP_060739.2:NM_018269.3 Detected in heart, colon, lung, stomach, brain, spleen, liver, skeletal muscle and kidney. iron ion per monomer. Can also use other divalent metal cations Monomer . Interacts with MMP14 2020-06-12T23:07:28Z 2020-07-28T02:30:16Z 0 1 0 4693 CDBP04692 Neuropathy target esterase Q8IY17 PLPL6_HUMAN true false Enzyme Homo_sapiens PNPLA6 1366 150952.43 7.734 Involved in metabolic process Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Its specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy. 116256487 PNPLA6 19 19p13.2 PNPLA6 HGNC:16268 true hsa:10908 NP_001159583.1:NM_001166111.1;NP_001159584.1:NM_001166112.1;NP_001159585.1:NM_001166113.1;NP_001159586.1:NM_001166114.1;NP_006693.3:NM_006702.4 Expressed in brain, placenta, kidney, neuron and skeletal muscle. 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4694 CDBP04693 Protein phosphatase 1 regulatory subunit 3C Q9UQK1 PPR3C_HUMAN true false Enzyme Homo_sapiens PPP1R3C 317 36445.2 7.52 Involved in protein serine/threonine phosphatase activity Acts as a glycogen-targeting subunit for PP1 and regulates its activity. Activates glycogen synthase, reduces glycogen phosphorylase activity and limits glycogen breakdown. Dramatically increases basal and insulin-stimulated glycogen synthesis upon overexpression in a variety of cell types ["None"] ["None"] AK313149 189053715 PPP1R3C Chromosome:1 10q23-q24 PPP1R3C HGNC:9293 true 2020-06-12T23:07:28Z 2020-06-12T23:07:28Z 0 0 0 4695 CDBP04694 Protein phosphatase 1 regulatory subunit 3B Q86XI6 PPR3B_HUMAN true false Enzyme Homo_sapiens PPP1R3B 285 32694.9 5.92 Involved in glycogen metabolic process Acts as a glycogen-targeting subunit for phosphatase PP1. Facilitates interaction of the PP1 with enzymes of the glycogen metabolism and regulates its activity. Suppresses the rate at which PP1 dephosphorylates (inactivates) glycogen phosphorylase and enhances the rate at which it activates glycogen synthase and therefore limits glycogen breakdown. Its activity is inhibited by PYGL, resulting in inhibition of the glycogen synthase and glycogen phosphorylase phosphatase activities of PP1. Dramatically increases basal and insulin-stimulated glycogen synthesis upon overexpression in hepatocytes ["None"] ["None"] AK024067 10436349 PPP1R3B Chromosome:8 8p23.1 PPP1R3B HGNC:14942 true 2020-06-12T23:07:29Z 2020-06-12T23:07:29Z 0 0 0 4696 CDBP04695 Lipoyltransferase 1, mitochondrial Q9Y234 LIPT_HUMAN true false Enzyme Homo_sapiens LIPT1 373 42478.8 8.364 Involved in catalytic activity Catalyzes the transfer of the lipoyl group from lipoyl-AMP to the specific lysine residue of lipoyl domains of lipoate-dependent enzymes (By similarity). AB017566 LIPT1 2 2q11.2 LIPT1 HGNC:29569 true hsa:51601 NP_001191759.1:NM_001204830.1;NP_057013.1:NM_015929.3;NP_660198.1:NM_145197.2;NP_660199.1:NM_145198.2;NP_660200.1:NM_145199.2 Highly expressed in skeletal muscle and heart, moderately in kidney and pancreas, and detected at lower levels in liver, brain, placenta and lung. 2020-06-12T23:07:29Z 2020-06-12T23:07:29Z 0 0 0 4697 CDBP04696 Prolyl endopeptidase P48147 PPCE_HUMAN true false Enzyme Homo_sapiens PREP 710 80698.9 5.68 Involved in serine-type endopeptidase activity Cleaves peptide bonds on the C-terminal side of prolyl residues within peptides that are up to approximately 30 amino acids long ["None"] ["None"] 1H2W X74496 558596 PREP Chromosome:6 6q22 PREP HGNC:9358 true 2020-06-12T23:07:29Z 2020-06-12T23:07:29Z 0 0 0 4698 CDBP04697 Calcium-calmodulin independent nitric oxide synthase iNOS protein Q9UM94 Q9UM94_HUMAN true false Enzyme Homo_sapiens 59 6563.5 8.22 Involved in nitric-oxide synthase activity ["None"] ["None"] 4NOS S76479 4261926 HGNC:7873 true 2020-06-12T23:07:29Z 2020-06-12T23:07:29Z 0 0 0 4699 CDBP04698 DNA dC->dU-editing enzyme APOBEC-3H Q6NTF7 ABC3H_HUMAN true false Enzyme Homo_sapiens APOBEC3H 200 21529.795 8.923 Involved in zinc ion binding DNA cytidine deaminase which may provide cellular innate resistance to a specific panel of genetic invaders including endogenous retroelements and a subset of viruses. AL031846 168984003 APOBEC3H 22 22q13.1 APOBEC3H HGNC:24100 true hsa:164668 NP_001159474.1:NM_001166002.1;NP_001159475.1:NM_001166003.1;NP_861438.2:NM_181773.3 Expressed in lymphoid organs. Also detected in non-lymphoid tissues including lung, testis, ovary, fetal liver and skin. Zinc 2020-06-12T23:07:29Z 2020-07-28T02:30:16Z 0 1 0 4700 CDBP04699 Uracil phosphoribosyltransferase homolog Q96BW1 UPP_HUMAN true false Enzyme Homo_sapiens UPRT 309 Involved in nucleoside metabolic process NM_145052.3 21450816 UPRT UPRT HGNC:28334 true hsa:139596 NP_659489.1:NM_145052.3 Highly expressed in leukocytes, liver, spleen and thymus, with lower expression in brain, lung and skeletal muscle. 2020-06-12T23:07:29Z 2020-06-12T23:07:29Z 0 0 0 4701 CDBP04700 Dynein light chain 1, cytoplasmic P63167 DYL1_HUMAN true false Enzyme Homo_sapiens DYNLL1 89 10365.8 7.5 Involved in microtubule-based process Regulates apoptotic activities of BCL2L11 by sequestering it to microtubules. Upon apoptotic stimuli the BCL2L11-DYNLL1 complex dissociates from cytoplasmic dynein and translocates to mitochondria and sequesters BCL2 thus neutralizing its antiapoptotic activity ["None"] ["None"] 1F96 CR407672 47115281 DYNLL1 Chromosome:1 12q24.23 DYNLL1 HGNC:15476 true 2020-06-12T23:07:29Z 2020-06-12T23:07:29Z 0 0 0 4702 CDBP04701 MOSC domain-containing protein 1, mitochondrial Q5VT66 MOSC1_HUMAN true false Enzyme Homo_sapiens MOSC1 337 37499.0 9.09 Involved in catalytic activity Probable oxidoreductase ["None"] ["None"] NM_022746.3 224600454 MOSC1 Chromosome:1 1q41 MOSC1 HGNC:26189 true 2020-06-12T23:07:29Z 2020-07-28T02:30:16Z 0 1 0 4703 CDBP04702 GDP-fucose protein O-fucosyltransferase 2 Q9Y2G5 OFUT2_HUMAN true false Enzyme Homo_sapiens POFUT2 429 49975.4 6.58 Involved in peptide-O-fucosyltransferase activity Catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue in thrombospondin type 1 repeats ["1-21"] ["None"] NM_133635.4 34147487 POFUT2 Chromosome:2 21q22.3 POFUT2 HGNC:14683 true 2020-06-12T23:07:29Z 2020-06-12T23:07:29Z 0 0 0 4704 CDBP04703 Trans-L-3-hydroxyproline dehydratase Q96EM0 PRCM_HUMAN true false Enzyme Homo_sapiens L3HYPDH 354 38137.395 6.681 Involved in proline racemase activity Catalyzes the dehydration of trans-3-hydroxy-L-proline to delta-1-pyrroline-2-carboxylate (Pyr2C). May be required to degrade trans-3-hydroxy-L-proline from the diet and originating from the degradation of proteins such as collagen-IV that contain it. AK058165 C14orf149 14 14q23.1 C14orf149 HGNC:20488 true hsa:112849 NP_653182.1:NM_144581.1 Ubiquitously expressed. Homodimer 2020-06-12T23:07:29Z 2020-06-12T23:07:29Z 0 0 0 4705 CDBP04704 Peptidyl-prolyl cis-trans isomerase FKBP4 Q02790 FKBP4_HUMAN true false Enzyme Homo_sapiens FKBP4 459 51804.2 5.11 Involved in protein folding Immunophilin protein with PPIase and co-chaperone activities. Component of unliganded steroid receptors heterocomplexes through interaction with heat-shock protein 90 (HSP90). May play a role in the intracellular trafficking of heterooligomeric forms of steroid hormone receptors between cytoplasm and nuclear compartments. The isomerase activity controls neuronal growth cones via regulation of TRPC1 channel opening. Acts also as a regulator of microtubule dynamics by inhibiting MAPT/TAU ability to promote microtubule assembly ["None"] ["None"] 1QZ2 M88279 FKBP4 Chromosome:1 12p13.33 FKBP4 HGNC:3720 true 2020-06-12T23:07:29Z 2020-06-12T23:07:29Z 0 0 0 4706 CDBP04705 Peptidyl-prolyl cis-trans isomerase F, mitochondrial P30405 PPIF_HUMAN true false Enzyme Homo_sapiens PPIF 207 22040.1 9.95 Involved in peptidyl-prolyl cis-trans isomerase activity PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides ["None"] ["None"] 2BIU M80254 PPIF Chromosome:1 10q22-q23 PPIF HGNC:9259 true 2020-06-12T23:07:29Z 2020-06-12T23:07:29Z 0 0 0 4707 CDBP04706 Peptidyl-prolyl cis-trans isomerase A P62937 PPIA_HUMAN true false Enzyme Homo_sapiens PPIA 165 18012.4 7.97 Involved in peptidyl-prolyl cis-trans isomerase activity PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides ["None"] ["None"] 1CWM Y00052 30309 PPIA Chromosome:7 7p13 PPIA HGNC:9253 true 2020-06-12T23:07:29Z 2020-06-12T23:07:29Z 0 0 0 4708 CDBP04707 Peptidyl-prolyl cis-trans isomerase B P23284 PPIB_HUMAN true false Enzyme Homo_sapiens PPIB 216 23742.4 10.07 Involved in peptidyl-prolyl cis-trans isomerase activity PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides ["1-33"] ["None"] 1CYN M63573 PPIB Chromosome:1 15q21-q22 PPIB HGNC:9255 true 2020-06-12T23:07:29Z 2020-06-12T23:07:29Z 0 0 0 4709 CDBP04708 Peptidyl-prolyl cis-trans isomerase G Q13427 PPIG_HUMAN true false Enzyme Homo_sapiens PPIG 754 88616.5 11.01 Involved in peptidyl-prolyl cis-trans isomerase activity PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. May be implicated in the folding, transport, and assembly of proteins. May play an important role in the regulation of pre-mRNA splicing ["None"] ["None"] NM_004792.2 42560244 PPIG Chromosome:2 2q31.1 PPIG HGNC:14650 true 2020-06-12T23:07:29Z 2020-06-12T23:07:29Z 0 0 0 4710 CDBP04709 Probable proline--tRNA ligase, mitochondrial Q7L3T8 SYPM_HUMAN true false Enzyme Homo_sapiens PARS2 475 53262.18 8.108 Involved in nucleotide binding NM_152268.3 34303926 PARS2 1 1p32.2 PARS2 HGNC:30563 true hsa:25973 NP_689481.2:NM_152268.3 2020-06-12T23:07:29Z 2020-06-12T23:07:29Z 0 0 0 4711 CDBP04710 Peptidyl-prolyl cis-trans isomerase H O43447 PPIH_HUMAN true false Enzyme Homo_sapiens PPIH 177 19208.0 8.22 Involved in peptidyl-prolyl cis-trans isomerase activity PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. Participates in pre-mRNA splicing. May play a role in the assembly of the U4/U5/U6 tri-snRNP complex. May act as a chaperone ["None"] ["None"] 1MZW AF016371 PPIH Chromosome:1 1p34.1 PPIH HGNC:14651 true 2020-06-12T23:07:29Z 2020-06-12T23:07:29Z 0 0 0 4712 CDBP04711 Phospholysine phosphohistidine inorganic pyrophosphate phosphatase Q9H008 LHPP_HUMAN true false Enzyme Homo_sapiens LHPP 270 22695.865 7.208 Involved in catalytic activity Phosphatase that hydrolyzes imidodiphosphate, 3-phosphohistidine and 6-phospholysine. Has broad substrate specificity and can also hydrolyze inorganic diphosphate, but with lower efficiency (By similarity). 2X4D AB049629 10716807 LHPP 10 10q26.13 LHPP HGNC:30042 true hsa:64077 NP_001161352.1:NM_001167880.1;NP_071409.3:NM_022126.3 Expressed in brain, and at lower levels in liver and kidney. Detected in thyroid (at protein level). Expressed in liver, kidney and moderately in brain. magnesium ion Homodimer 2020-06-12T23:07:29Z 2020-06-12T23:07:29Z 0 0 0 4713 CDBP04712 DNA topoisomerase 2-alpha P11388 TOP2A_HUMAN true false Enzyme Homo_sapiens TOP2A 1531 174383.9 9.17 Involved in sequence-specific DNA binding transcription factor activity Control of topological states of DNA by transient breakage and subsequent rejoining of DNA strands. Topoisomerase II makes double-strand breaks ["None"] ["None"] J04088 292830 TOP2A Chromosome:1 17q21-q22 TOP2A HGNC:11989 true 2020-06-12T23:07:29Z 2020-06-12T23:07:29Z 0 0 0 4714 CDBP04713 Cysteine dioxygenase Q16857 Q16857_HUMAN true false Enzyme Homo_sapiens CDO-1 56 6589.4 3.93 Involved in iron ion binding L-CYSTEINE + O(2) = 3-SULFINOALANINE ["None"] ["None"] CDO-1 CDO-1 HGNC:1795 true 2020-06-12T23:07:29Z 2020-07-28T02:30:17Z 0 1 0 4715 CDBP04714 N-acetyltransferase 14 Q8WUY8 NAT14_HUMAN true false Enzyme Homo_sapiens NAT14 206 21650.2 11.32 Involved in N-acetyltransferase activity Probable acetyltransferase that binds the 5'-GGACTACAG- 3' sequence of coproporphyrinogen oxidase promoter. Able to activate transcription of a reporter construct in vitro ["None"] ["57-77"] AB038651 9664094 NAT14 Chromosome:1 19q13.42 NAT14 HGNC:28918 true 2020-06-12T23:07:29Z 2020-06-12T23:07:29Z 0 0 0 4716 CDBP04715 HERV-K_5q33.3 provirus ancestral Pro protein P10265 VPK10_HUMAN true false Enzyme Homo_sapiens 156 17107.6 5.9 Involved in nucleic acid binding Retroviral proteases have roles in processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution. This endogenous protein has retained most of the characteristics of retroviral proteases ["None"] ["None"] true 2020-06-12T23:07:29Z 2020-06-12T23:07:29Z 0 0 0 4717 CDBP04716 Chromodomain Y-like protein Q9Y232 CDYL1_HUMAN true false Enzyme Homo_sapiens CDYL 598 45134.635 8.662 Involved in chromatin binding Acts as repressor of transcription (By similarity). Has histone acetyltransferase activity, with a preference for histone H4. 2DNT;2GTR AF081258 4558756 CDYL 6 6p25.1 CDYL HGNC:1811 true hsa:9425 NP_001137442.1:NM_001143970.1;NP_001137443.1:NM_001143971.1;NP_004815.3:NM_004824.3 Ubiquitous. Expressed at moderate levels in all tissues examined. Interacts with HDAC1 and HDAC2 via its C-terminal acetyl-CoA-binding domain 2020-06-12T23:07:29Z 2020-07-28T02:30:18Z 0 0 1 4718 CDBP04717 tRNA (uracil(54)-C(5))-methyltransferase homolog Q96GJ1 TRM2_HUMAN true false Enzyme Homo_sapiens TRMT2B 504 56475.965 8.804 Involved in RNA methyltransferase activity Probable S-adenosyl-L-methionine-dependent methyltransferase that catalyzes the formation of 5-methyl-uridine at position 54 (m5U54) in all tRNA. May also have a role in tRNA stabilization or maturation (By similarity). AK022749 10434333 TRMT2B X Xq22.1 TRMT2B HGNC:25748 true hsa:79979 NP_001161442.1:NM_001167970.1;NP_001161443.1:NM_001167971.1;NP_001161444.1:NM_001167972.1;NP_079193.2:NM_024917.5 2020-06-12T23:07:29Z 2020-06-12T23:07:29Z 0 0 0 4719 CDBP04718 Kallikrein-6 Q92876 KLK6_HUMAN true false Enzyme Homo_sapiens KLK6 244 26855.5 7.48 Involved in serine-type endopeptidase activity Serine protease which exhibits a preference for Arg over Lys in the substrate P1 position and for Ser or Pro in the P2 position. Shows activity against amyloid precursor protein, myelin basic protein, gelatin, casein and extracellular matrix proteins such as fibronectin, laminin, vitronectin and collagen. Degrades alpha-synuclein and prevents its polymerization, indicating that it may be involved in the pathogenesis of Parkinson disease and other synucleinopathies. May be involved in regulation of axon outgrowth following spinal cord injury. Tumor cells treated with a neutralizing KLK6 antibody migrate less than control cells, suggesting a role in invasion and metastasis ["1-16"] ["None"] 1L2E U62801 KLK6 Chromosome:1 19q13.3 KLK6 HGNC:6367 true 2020-06-12T23:07:29Z 2020-06-12T23:07:29Z 0 0 0 4720 CDBP04719 Ornithine decarboxylase antizyme 1 P54368 OAZ1_HUMAN true false Enzyme Homo_sapiens OAZ1 228 25405.3 7.57 Involved in enzyme inhibitor activity Binds to, and destabilizes, ornithine decarboxylase which is then degraded. Also inhibits cellular uptake of polyamines by inactivating the polyamine uptake transporter. SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor SNIP1 ["None"] ["None"] AY865622 57790284 OAZ1 Chromosome:1 19p13.3 OAZ1 HGNC:8095 true 2020-06-12T23:07:29Z 2020-06-12T23:07:29Z 0 0 0 4721 CDBP04720 Ornithine decarboxylase antizyme 2 O95190 OAZ2_HUMAN true false Enzyme Homo_sapiens OAZ2 189 21010.9 5.03 Involved in enzyme inhibitor activity Binds to, and destabilizes, ornithine decarboxylase. Does not accelerate ornithine decarboxylase degeneration ["None"] ["None"] AF057297 3766170 OAZ2 Chromosome:1 15q22.31 OAZ2 HGNC:8096 true 2020-06-12T23:07:29Z 2020-06-12T23:07:29Z 0 0 0 4722 CDBP04721 Ornithine decarboxylase antizyme 3 Q9UMX2 OAZ3_HUMAN true false Enzyme Homo_sapiens OAZ3 187 21374.8 4.67 Involved in enzyme inhibitor activity Binds to, and destabilizes, ornithine decarboxylase. Does not accelerate ornithine decarboxylase degeneration. OAZ3 probably plays a key role in spermatogenesis by regulating the intracellular concentration of polyamines in haploid germ cells ["None"] ["None"] AF175296 5802609 OAZ3 Chromosome:1 1q21.3 OAZ3 HGNC:8097 true 2020-06-12T23:07:29Z 2020-06-12T23:07:29Z 0 0 0 4723 CDBP04722 Antizyme inhibitor 1 O14977 AZIN1_HUMAN true false Enzyme Homo_sapiens AZIN1 448 49534.8 4.4 Involved in catalytic activity Regulates cellular polyamine homeostasis. Inhibits antizyme-dependent ornithine decarboxylase degradation by binding to antizyme ["None"] ["None"] NM_015878.4 21361583 AZIN1 Chromosome:8 8q22.3 AZIN1 HGNC:16432 true 2020-06-12T23:07:29Z 2020-06-12T23:07:29Z 0 0 0 4724 CDBP04723 Thyroid hormone receptor alpha P10827 THA_HUMAN false false Receptor Homo_sapiens THRA 490 54815.1 6.85 Involved in sequence-specific DNA binding transcription factor activity Nuclear hormone receptor. High affinity receptor for triiodothyronine ["None"] ["None"] 1NAV NM_001190919.1 300116309 THRA Chromosome:1 17q11.2 THRA HGNC:11796 true 2020-06-12T23:07:29Z 2020-07-28T02:30:18Z 1 1 1 4725 CDBP04724 NADH:ubiquinone oxidoreductase SDAP subunit A4UCS3 A4UCS3_HUMAN true true Enzyme Homo_sapiens 124 13714.9 7.26 Involved in acyl carrier activity ["None"] ["None"] EF036490 134254692 HGNC:7694 true 2020-06-12T23:07:29Z 2020-07-28T02:30:18Z 0 0 0 4726 CDBP04725 Selenium-binding protein 1 Q13228 SBP1_HUMAN false false Enzyme Homo_sapiens SELENBP1 472 52390.6 6.32 Involved in selenium binding Selenium-binding protein which may be involved in the sensing of reactive xenobiotics in the cytoplasm. May be involved in intra-Golgi protein transport ["None"] ["None"] AK315643 189055026 SELENBP1 Chromosome:1 1q21.3 SELENBP1 HGNC:10719 true 2020-06-12T23:07:29Z 2020-07-28T02:34:24Z 0 0 0 4727 CDBP04726 Selenoprotein P P49908 SEPP1_HUMAN false false Enzyme Homo_sapiens SEPP1 381 43173.4 7.92 Involved in selenium binding Might be responsible for some of the extracellular antioxidant defense properties of selenium or might be involved in the transport of selenium. May supply selenium to tissues such as brain and testis ["1-19"] ["None"] NM_001085486.1 148277018 SEPP1 Chromosome:5 5q31 SEPP1 HGNC:10751 true 2020-06-12T23:07:29Z 2020-07-28T02:34:24Z 0 0 0 4728 CDBP04727 15 kDa selenoprotein O60613 SEP15_HUMAN false false Enzyme Homo_sapiens SEP15 162 17790.2 4.67 Involved in selenium binding May be involved in redox reactions associated with the formation of disulfide bonds. May contribute to the quality control of protein folding in the endoplasmic reticulum ["1-28"] ["None"] AF051894 3095111 SEP15 Chromosome:1 1p31 true 2020-06-12T23:07:29Z 2020-07-28T02:34:24Z 0 0 0 4729 CDBP04728 Selenoprotein N Q9NZV5 SELN_HUMAN false false Enzyme Homo_sapiens SEPN1 590 65826.1 5.27 Involved in protein binding ["1-43"] ["None"] NM_020451.2 47578099 SEPN1 Chromosome:1 1p36.13 SEPN1 HGNC:15999 true 2020-06-12T23:07:29Z 2020-07-28T02:34:24Z 0 0 0 4730 CDBP04729 Selenoprotein W P63302 SELW_HUMAN false false Enzyme Homo_sapiens SEPW1 87 9447.9 9.74 Involved in selenium binding May be involved in a redox-related process. May play a role in the myopathies of selenium deficiency ["None"] ["None"] NM_003009.2 4506887 SEPW1 Chromosome:1 19q13.3 SEPW1 HGNC:10752 true 2020-06-12T23:07:29Z 2020-07-28T02:34:24Z 0 0 0 4731 CDBP04730 Selenoprotein S Q9BQE4 SELS_HUMAN false false Enzyme Homo_sapiens SELS 189 21162.8 10.3 Involved in selenium binding Involved in the degradation process of misfolded endoplasmic reticulum (ER) luminal proteins. Participates in the transfer of misfolded proteins from the ER to the cytosol, where they are destroyed by the proteasome in a ubiquitin-dependent manner. Probably acts by serving as a linker between DERL1, which mediates the retrotranslocation of misfolded proteins into the cytosol, and the ATPase complex VCP, which mediates the translocation and ubiquitination ["None"] ["28-48"] NM_018445.4 33285002 SELS Chromosome:1 15q26.3 true 2020-06-12T23:07:29Z 2020-07-28T02:34:24Z 0 0 0 4732 CDBP04731 Selenoprotein K Q9Y6D0 SELK_HUMAN false false Enzyme Homo_sapiens SELK 94 10644.9 11.38 Involved in response to oxidative stress ["None"] ["None"] AF537132 24431324 SELK Chromosome:3 3p21.31 true 2020-06-12T23:07:29Z 2020-07-28T02:34:24Z 0 0 0 4733 CDBP04732 Selenoprotein M Q8WWX9 SELM_HUMAN false false Enzyme Homo_sapiens SELM 145 16231.5 5.24 May function as a thiol-disulfide oxidoreductase that participates in disulfide bond formation ["1-23"] ["None"] NM_080430.2 17975597 SELM Chromosome:2 22q12.2 true 2020-06-12T23:07:29Z 2020-07-28T02:34:25Z 0 0 0 4734 CDBP04733 Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 Q9ULH1 ASAP1_HUMAN false false Metal Binding Homo_sapiens ASAP1 1129 125496.9 7.34 Involved in ARF GTPase activator activity Possesses phosphatidylinositol 4,5-biphosphate-dependent GTPase-activating protein activity for ARF1 (ADP ribosylation factor 1) and ARF5 and a lesser activity towards ARF6. May coordinate membrane trafficking with cell growth or actin cytoskeleton remodeling by binding to both SRC and PIP2. May function as a signal transduction protein involved in the differentiation of fibroblasts into adipocytes and possibly other cell types ["None"] ["None"] NM_018482.2 46094081 ASAP1 Chromosome:8 8q24.1-q24.2 ASAP1 HGNC:2720 true 2020-06-12T23:07:29Z 2020-07-28T02:32:05Z 0 1 0 4735 CDBP04734 Methylmalonic aciduria and homocystinuria type C protein Q9Y4U1 MMAC_HUMAN false false Enzyme Homo_sapiens MMACHC 282 31728.1 7.92 Involved in cobalamin binding May be involved in the binding and intracellular trafficking of cobalamin (vitamin B12) ["None"] ["None"] AL080062 52545527 MMACHC Chromosome:1 1p34.1 MMACHC HGNC:24525 true 2020-06-12T23:07:29Z 2020-07-28T02:34:25Z 0 0 0 4736 CDBP04735 Protein amnionless Q9BXJ7 AMNLS_HUMAN false true Transporter Homo_sapiens AMN 453 47753.9 6.09 Involved in multicellular organismal development Necessary for efficient absorption of vitamin B12. May direct the production of trunk mesoderm during development by modulating a bone morphogenetic protein (BMP) signaling pathway in the underlying visceral endoderm ["1-19"] ["358-378"] AF328788 13507259 AMN Chromosome:1 14q32.3 AMN HGNC:14604 true 2020-06-12T23:07:29Z 2020-06-12T23:07:29Z 0 0 0 4737 CDBP04736 Azurocidin P20160 CAP7_HUMAN false false Enzyme Homo_sapiens AZU1 251 26885.4 9.65 Involved in serine-type endopeptidase activity This is a neutrophil granule-derived antibacterial and monocyte- and fibroblast-specific chemotactic glycoprotein. Binds heparin. The cytotoxic action is limited to many species of Gram- negative bacteria; this specificity may be explained by a strong affinity of the very basic N-terminal half for the negatively charged lipopolysaccharides that are unique to the Gram-negative bacterial outer envelope. It may play a role in mediating recruitment of monocytes in the second wave of inflammation. Has antibacterial activity against the Gram-nagative bacterium P.aeruginosa, this activity is inhibited by LPS from P.aeruginosa. Acting alone, it does not have antimicrobial activity against the Gram-negative bacteria A.actinomycetemcomitans ATCC 29532, A.actinomycetemcomitans NCTC 9709, A.actinomycetemcomitans FDC-Y4, H.aphrophilus ATCC 13252, E.corrodens ATCC 23834, C.sputigena ATCC 33123, Capnocytophaga sp ATCC 33124, Capnocytophaga sp ATCC 27872 or E.coli ML-35. Has antibacterial activity against C.sputigena ATCC 33123 when acting synergistically with either elastase or cathepsin G ["1-26"] ["None"] 1AE5 NM_001700.3 11342670 AZU1 Chromosome:1 19p13.3 AZU1 HGNC:913 true 2020-06-12T23:07:29Z 2020-07-28T02:34:25Z 0 0 0 4738 CDBP04737 Fibroblast growth factor 4 P08620 FGF4_HUMAN false false Receptor Homo_sapiens FGF4 206 22047.4 10.19 Involved in growth factor activity Can transform NIH 3T3 cells from a human stomach tumor (hst) and from karposi's sarcoma (KS3). It has a mitogenic activity ["1-30"] ["None"] 1IJT J02986 386788 FGF4 Chromosome:1 11q13.3 FGF4 HGNC:3682 true 2020-06-12T23:07:29Z 2020-07-28T02:32:20Z 1 0 0 4739 CDBP04738 60S ribosomal protein L29 P47914 RL29_HUMAN false false Enzyme Homo_sapiens RPL29 159 17751.9 12.22 Involved in structural constituent of ribosome ["None"] ["None"] AK311884 189053203 RPL29 Chromosome:3 3p21.3-p21.2 RPL29 HGNC:10331 true 2020-06-12T23:07:29Z 2020-07-28T02:34:25Z 0 0 0 4740 CDBP04739 60S ribosomal protein L22 P35268 RL22_HUMAN false false Enzyme Homo_sapiens RPL22 128 14786.9 9.75 Involved in structural constituent of ribosome ["None"] ["None"] AK311749 189053070 RPL22 Chromosome:1 1p36.31 RPL22 HGNC:10315 true 2020-06-12T23:07:29Z 2020-07-28T02:34:25Z 0 0 0 4741 CDBP04740 Fibroblast growth factor 5 P12034 FGF5_HUMAN false false Receptor Homo_sapiens FGF5 268 29550.5 11.21 Involved in growth factor activity Functions as an inhibitor of hair elongation by promoting progression from anagen, the growth phase of the hair follicle, into catagen the apoptosis-induced regression phase ["1-17"] ["None"] NM_004464.3 73486655 FGF5 Chromosome:4 4q21 FGF5 HGNC:3683 true 2020-06-12T23:07:29Z 2020-07-28T02:32:20Z 1 0 0 4742 CDBP04741 Fibroblast growth factor 6 P10767 FGF6_HUMAN false false Receptor Homo_sapiens FGF6 208 22904.3 10.39 Involved in growth factor activity Can transform NIH 3T3 cells. Exhibits strong mitogenic and angiogenic properties ["1-37"] ["None"] AY581424 45934424 FGF6 Chromosome:1 12p13 FGF6 HGNC:3684 true 2020-06-12T23:07:29Z 2020-07-28T02:32:20Z 1 0 0 4743 CDBP04742 Fibroblast growth factor-binding protein 1 Q14512 FGFP1_HUMAN false false Enzyme Homo_sapiens FGFBP1 234 26264.1 9.56 Involved in heparin binding Acts as a carrier protein that release fibroblast- binding factors (FGFs) from the extracellular matrix (EM) storage and thus enhance the mitogenic activity of FGFs. Enhances FGF2 signaling during tissue repair, angiogenesis and in tumor growth ["1-23"] ["None"] AF149412 5070624 FGFBP1 Chromosome:4 4p15.32 FGFBP1 HGNC:19695 true 2020-06-12T23:07:29Z 2020-07-28T02:34:25Z 0 0 0 4744 CDBP04743 Hepatoma-derived growth factor P51858 HDGF_HUMAN false false Enzyme Homo_sapiens HDGF 240 26788.1 4.39 Involved in DNA binding Heparin-binding protein, with mitogenic activity for fibroblasts. Acts as a transcriptional repressor ["None"] ["None"] 1RI0 AL590666 55960779 HDGF Chromosome:1 1q21-q23 HDGF HGNC:4856 true 2020-06-12T23:07:29Z 2020-07-28T02:34:25Z 0 0 0 4745 CDBP04744 Fibroblast growth factor 8 P55075 FGF8_HUMAN false false Receptor Homo_sapiens FGF8 233 26525.3 11.04 Involved in growth factor activity Stimulates growth of the cells in an autocrine manner. Mediates hormonal action on the growth of cancer cells ["1-22"] ["None"] NM_033164.3 15147348 FGF8 Chromosome:1 10q24 FGF8 HGNC:3686 true 2020-06-12T23:07:29Z 2020-07-28T02:32:20Z 1 0 0 4746 CDBP04745 Fibroblast growth factor 3 P11487 FGF3_HUMAN false false Receptor Homo_sapiens FGF3 239 26886.5 11.38 Involved in growth factor activity Could be involved in ear development ["1-17"] ["None"] BC113739 111599421 FGF3 Chromosome:1 11q13 FGF3 HGNC:3681 true 2020-06-12T23:07:29Z 2020-07-28T02:32:20Z 1 0 0 4747 CDBP04746 Epididymal sperm-binding protein 1 Q96BH3 ESPB1_HUMAN false false Enzyme Homo_sapiens ELSPBP1 223 26106.1 6.62 Involved in single fertilization Binds to spermatozoa upon ejaculation and may play a role in sperm capacitation. Has phosphorylcholine-binding activity ["1-24"] ["None"] NM_022142.4 301601648 ELSPBP1 Chromosome:1 19q13.33 ELSPBP1 HGNC:14417 true 2020-06-12T23:07:29Z 2020-07-28T02:34:25Z 0 0 0 4748 CDBP04747 Syndecan-2 P34741 SDC2_HUMAN false false Enzyme Homo_sapiens SDC2 201 22159.6 4.48 Involved in cytoskeletal protein binding Cell surface proteoglycan that bears heparan sulfate ["1-18"] ["145-169"] AK025488 10438020 SDC2 Chromosome:8 8q22-q23 SDC2 HGNC:10659 true 2020-06-12T23:07:29Z 2020-07-28T02:34:25Z 0 0 0 4749 CDBP04748 N-arachidonyl glycine receptor Q14330 GPR18_HUMAN false false Receptor Homo_sapiens GPR18 331 38133.3 9.56 Involved in G-protein coupled receptor protein signaling pathway Receptor for N-arachidonyl glycine. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase. May contribute to regulation of the immune system ["None"] ["27-47", "57-77", "96-116", "139-159", "192-212", "233-253", "269-289"] NM_001098200.1 148235349 GPR18 Chromosome:1 13q32 GPR18 HGNC:4472 true 2020-06-12T23:07:29Z 2020-07-28T02:30:19Z 1 0 0 4750 CDBP04749 Paired mesoderm homeobox protein 1 P54821 PRRX1_HUMAN false false Transcription Factor Homo_sapiens PRRX1 245 27296.2 9.91 Involved in DNA binding Acts as a transcriptional regulator of muscle creatine kinase (MCK) and so has a role in the establishment of diverse mesodermal muscle types. The protein binds to an A/T-rich element in the muscle creatine enhancer ["None"] ["None"] AB451463 197692627 PRRX1 Chromosome:1 1q24 PRRX1 HGNC:9142 true 2020-06-12T23:07:29Z 2020-07-28T02:32:07Z 0 0 1 4751 CDBP04750 DNA-binding protein inhibitor ID-3 Q02535 ID3_HUMAN false false Transcription Factor Homo_sapiens ID3 119 12968.8 5.64 Involved in transcription regulator activity ID (inhibitor of DNA binding) HLH proteins lack a basic DNA-binding domain but are able to form heterodimers with other HLH proteins, thereby inhibiting DNA binding. ID-3 inhibits the binding of E2A-containing protein complexes to muscle creatine kinase E-box enhancer. May inhibit other transcription factors ["None"] ["None"] AK290003 158261029 ID3 Chromosome:1 1p36.13-p36.12 ID3 HGNC:5362 true 2020-06-12T23:07:29Z 2020-07-28T02:32:07Z 0 0 1 4752 CDBP04751 Killer cell lectin-like receptor subfamily B member 1 Q12918 KLRB1_HUMAN false false Receptor Homo_sapiens KLRB1 225 25414.6 6.25 Involved in binding Plays an inhibitory role on natural killer (NK) cells cytotoxicity. Activation results in specific acid sphingomyelinase/SMPD1 stimulation with subsequent marked elevation of intracellular ceramide. Activation also leads to AKT1/PKB and RPS6KA1/RSK1 kinases stimulation as well as markedly enhanced T-cell proliferation induced by anti-CD3. Acts as a lectin that binds to the terminal carbohydrate Gal-alpha(1,3)Gal epitope as well as to the N-acetyllactosamine epitope. Binds also to CLEC2D/LLT1 as a ligand and inhibits NK cell-mediated cytotoxicity as well as interferon-gamma secretion in target cells ["None"] ["46-66"] BC113997 89941407 KLRB1 Chromosome:1 12p13 KLRB1 HGNC:6373 true 2020-06-12T23:07:29Z 2020-07-28T02:30:19Z 1 0 0 4753 CDBP04752 Serine incorporator 1 Q9NRX5 SERC1_HUMAN false false Enzyme Homo_sapiens SERINC1 453 50494.4 5.65 Involved in L-serine transmembrane transporter activity Enhances the incorporation of serine into phosphatidylserine and sphingolipids ["None"] ["89-109", "124-144", "152-172", "198-218", "232-252", "260-280", "310-330", "388-408", "427-447"] NM_020755.2 24308213 SERINC1 Chromosome:6 6q22.31 SERINC1 HGNC:13464 true 2020-06-12T23:07:29Z 2020-07-28T02:34:25Z 0 0 0 4754 CDBP04753 CD97 antigen P48960 CD97_HUMAN false false Enzyme Homo_sapiens CD97 835 91868.4 6.87 Involved in calcium ion binding Receptor potentially involved in both adhesion and signaling processes early after leukocyte activation. Plays an essential role in leukocyte migration ["1-20"] ["553-572", "582-601", "621-642", "654-674", "692-712", "740-760", "767-789"] NM_078481.2 17978491 CD97 Chromosome:1 19p13 CD97 HGNC:1711 true 2020-06-12T23:07:29Z 2020-07-28T02:34:25Z 1 1 0 4755 CDBP04754 Sodium bicarbonate transporter-like protein 11 Q8NBS3 S4A11_HUMAN false true Transporter Homo_sapiens SLC4A11 891 98180.24 8.018 Involved in anion transport Transporter which plays an important role in sodium-mediated fluid transport in different organs. Prevents severe morphological changes of the cornea caused by increased sodium chloride concentrations in the stroma. In the inner ear, is involved in transport of potassium through the fibrocyte layer to the stria vascularis and is essential for the generation of the endocochlear potential but not for regulation of potassium concentrations in the endolymph. In the kidney, is essential for urinary concentration, mediates a sodium flux into the thin descending limb of Henle loop to allow countercurrent multiplication by osmotic equilibration (By similarity). Involved in borate homeostasis. In the absence of borate, it functions as a Na(+) and OH(-)(H(+)) channel. In the presence of borate functions as an electrogenic Na(+) coupled borate cotransporter. AF336127 13249297 SLC4A11 20 20p12 SLC4A11 HGNC:16438 true hsa:83959 NP_001167560.1:NM_001174089.1;NP_001167561.1:NM_001174090.1;NP_114423.1:NM_032034.3 Widely expressed. Highly expressed in kidney, testis, salivary gland, thyroid, trachea and corneal endothelium. Not detected in retina and lymphocytes. Homodimer 2020-06-12T23:07:29Z 2020-07-28T02:32:14Z 0 0 0 4756 CDBP04755 Transcription factor MafF Q9ULX9 MAFF_HUMAN false false Transcription Factor Homo_sapiens MAFF 164 17760.2 10.52 Involved in DNA binding Interacts with the upstream promoter region of the oxytocin receptor gene. May be a transcriptional enhancer in the up-regulation of the oxytocin receptor gene at parturition. Since it lacks a putative transactivation domain, it may behave as a transcriptional repressor when it dimerize among himself. May also serve as a transcriptional activator by dimerizing with other (usually larger) basic-zipper proteins and recruiting them to specific DNA-binding sites. May be involved in the cellular stress response ["None"] ["None"] AB025247 6429134 MAFF Chromosome:2 22q13.1 MAFF HGNC:6780 true 2020-06-12T23:07:29Z 2020-07-28T02:32:07Z 0 0 1 4757 CDBP04756 Vasopressin-neurophysin Q9UEW6 Q9UEW6_HUMAN false false Receptor Homo_sapiens 39 4312.0 8.04 Involved in neurohypophyseal hormone activity ["None"] ["None"] 1JK4 AF031475 2625108 HGNC:894 true 2020-06-12T23:07:29Z 2020-07-28T02:32:20Z 1 0 0 4758 CDBP04757 Phosphofurin acidic cluster sorting protein 1 Q6VY07 PACS1_HUMAN false false Enzyme Homo_sapiens PACS1 963 104897.6 7.86 Involved in protein binding Coat protein that is involved in the localization of trans-Golgi network (TGN) membrane proteins that contain acidic cluster sorting motifs. Controls the endosome-to-Golgi trafficking of furin and mannose-6-phosphate receptor by connecting the acidic-cluster-containing cytoplasmic domain of these molecules with the adapter-protein complex-1 (AP-1) of endosomal clathrin- coated membrane pits. Involved in HIV-1 nef-mediated removal of MHC-I from the cell surface to the TGN ["None"] ["None"] NM_018026.2 30089916 PACS1 Chromosome:1 11q13.1-q13.2 PACS1 HGNC:30032 true 2020-06-12T23:07:29Z 2020-07-28T02:34:25Z 0 0 0 4759 CDBP04758 Sortilin Q99523 SORT_HUMAN false false Enzyme Homo_sapiens SORT1 831 92066.9 5.51 Involved in enzyme binding Functions as a sorting receptor in the Golgi compartment and as a clearance receptor on the cell surface. Required for protein transport from the Golgi apparatus to the lysosomes by a pathway that is independent of the mannose-6-phosphate receptor (M6PR). Also required for protein transport from the Golgi apparatus to the endosomes. Promotes neuronal apoptosis by mediating endocytosis of the proapoptotic precursor forms of BDNF (proBDNF) and NGFB (proNGFB). Also acts as a receptor for neurotensin. May promote mineralization of the extracellular matrix during osteogenic differentiation by scavenging extracellular LPL. Probably required in adipocytes for the formation of specialized storage vesicles containing the glucose transporter SLC2A4/GLUT4 (GLUT4 storage vesicles, or GSVs). These vesicles provide a stable pool of SLC2A4 and confer increased responsiveness to insulin. May also mediate transport from the endoplasmic reticulum to the Golgi ["1-33"] ["756-778"] AL390252 55959339 SORT1 Chromosome:1 1p13.3|1p21.3-p13.1 SORT1 HGNC:11186 true 2020-06-12T23:07:29Z 2020-07-28T02:34:25Z 0 0 0 4760 CDBP04759 Kinesin-like protein KIF13A Q9H1H9 KI13A_HUMAN false false Enzyme Homo_sapiens KIF13A 1805 202306.8 5.31 Involved in microtubule motor activity Plus end-directed microtubule-dependent motor protein involved in mannose-6-phosphate receptor (M6PR) transport to the plasma membrane ["None"] ["None"] NM_022113.4 157738621 KIF13A Chromosome:6 6p23 KIF13A HGNC:14566 true 2020-06-12T23:07:29Z 2020-07-28T02:34:25Z 0 0 0 4761 CDBP04760 WD repeat domain phosphoinositide-interacting protein 1 Q5MNZ9 WIPI1_HUMAN false false Enzyme Homo_sapiens WIPI1 446 48672.6 6.58 Involved in androgen receptor binding May play a role in autophagy. May regulate the trafficking of proteins involved in the mannose-6-phosphate receptor (MPR) recycling pathway ["None"] ["None"] NM_017983.5 157388939 WIPI1 Chromosome:1 17q24.2 WIPI1 HGNC:25471 true 2020-06-12T23:07:29Z 2020-07-28T02:34:25Z 0 0 0 4762 CDBP04761 Nucleolar and coiled-body phosphoprotein 1 Q14978 NOLC1_HUMAN false false Enzyme Homo_sapiens NOLC1 699 73602.5 10.23 Translation, ribosomal structure and biogenesis Related to nucleologenesis, may play a role in the maintenance of the fundamental structure of the fibrillar center and dense fibrillar component in the nucleolus. It has intrinsic GTPase and ATPase activities. May play an important role in transcription catalyzed by RNA polymerase I ["None"] ["None"] AL500527 55665422 NOLC1 Chromosome:1 10q24.32 NOLC1 HGNC:15608 true 2020-06-12T23:07:29Z 2020-07-28T02:34:25Z 0 0 0 4763 CDBP04762 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 Q9UPQ3 AGAP1_HUMAN true false Enzyme Homo_sapiens AGAP1 857 94469.2 8.01 Involved in ARF GTPase activator activity GTPase-activating protein for ARF1 and, to a lesser extent, ARF5. Directly and specifically regulates the adapter protein 3 (AP-3)-dependent trafficking of proteins in the endosomal-lysosomal system ["None"] ["None"] NM_001037131.1 80978930 AGAP1 Chromosome:2 2q37 AGAP1 HGNC:16922 true 2020-06-12T23:07:29Z 2020-07-28T02:30:20Z 0 1 0 4764 CDBP04763 Guanine nucleotide-binding protein G(i) subunit alpha-1 P63096 GNAI1_HUMAN false false Receptor Homo_sapiens GNAI1 354 40360.7 5.76 Involved in signal transducer activity Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. The G(i) proteins are involved in hormonal regulation of adenylate cyclase:they inhibit the cyclase in response to beta-adrenergic stimuli ["None"] ["None"] 1CIP AF493905 20147703 GNAI1 Chromosome:7 7q21 GNAI1 HGNC:4384 true 2020-06-12T23:07:29Z 2020-07-28T02:32:20Z 1 0 0 4765 CDBP04764 Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas Q5JWF2 GNAS1_HUMAN false false Receptor Homo_sapiens GNAS 1037 111023.3 4.65 Involved in signal transducer activity Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. The G(s) protein is involved in hormonal regulation of adenylate cyclase:it activates the cyclase in response to beta-adrenergic stimuli. XLas isoforms interact with the same set of receptors as Gnas isoforms ["None"] ["None"] 1U0H NM_080425.2 117938759 GNAS Chromosome:2 20q13.3 GNAS HGNC:4392 true 2020-06-12T23:07:29Z 2020-07-28T02:32:20Z 1 0 0 4766 CDBP04765 Eukaryotic translation initiation factor 5B O60841 IF2P_HUMAN false false Enzyme Homo_sapiens EIF5B 1220 138825.9 5.15 Involved in GTPase activity Function in general translation initiation by promoting the binding of the formylmethionine-tRNA to ribosomes. Seems to function along with eIF-2 ["None"] ["None"] NM_015904.3 84043963 EIF5B Chromosome:2 2q11.2 EIF5B HGNC:30793 true 2020-06-12T23:07:29Z 2020-07-28T02:34:25Z 0 0 0 4767 CDBP04766 Mitochondrial carnitine/acylcarnitine carrier protein CACL Q8N8R3 MCATL_HUMAN false true Transporter Homo_sapiens SLC25A29 303 32061.87 8.755 Involved in binding Has palmitoylcarnitine transporting activity (By similarity). NM_001039355.1 86198310 SLC25A29 14 14q32.2 SLC25A29 HGNC:20116 true hsa:123096 NP_001034444.1:NM_001039355.1 2020-06-12T23:07:29Z 2020-07-28T02:32:14Z 0 0 0 4768 CDBP04767 ATP-binding cassette sub-family C member 8 Q09428 ABCC8_HUMAN false true Enzyme Homo_sapiens ABCC8 1581 177006.4 7.86 Involved in ATP binding Putative subunit of the beta-cell ATP-sensitive potassium channel (KATP). Regulator of ATP-sensitive K(+) channels and insulin release ["None"] ["35-55", "76-96", "102-122", "135-154", "168-194", "312-331", "356-376", "435-455", "459-479", "542-562", "585-605", "1005-1025", "1073-1093", "1138-1158", "1160-1180", "1252-1272", "1277-1297"] NM_000352.3 118582255 ABCC8 Chromosome:1 11p15.1 ABCC8 HGNC:59 true 2020-06-12T23:07:29Z 2020-07-28T02:34:25Z 1 0 0 4769 CDBP04768 ATP-binding cassette sub-family F member 1 Q8NE71 ABCF1_HUMAN false false Enzyme Homo_sapiens ABCF1 845 95925.2 6.77 Involved in ATP binding May function in mRNA translation ["None"] ["None"] NM_001025091.1 69354671 ABCF1 Chromosome:6 6p21.33 ABCF1 HGNC:70 true 2020-06-12T23:07:29Z 2020-07-28T02:34:25Z 0 0 0 4770 CDBP04769 Antigen peptide transporter 1 Q03518 TAP1_HUMAN false true Transporter Homo_sapiens TAP1 808 87216.9 8.11 Involved in ATP binding Involved in the transport of antigens from the cytoplasm to the endoplasmic reticulum for association with MHC class I molecules. Also acts as a molecular scaffold for the final stage of MHC class I folding, namely the binding of peptide. Nascent MHC class I molecules associate with TAP via tapasin. Inhibited by the covalent attachment of herpes simplex virus ICP47 protein, which blocks the peptide-binding site of TAP. Inhibited by human cytomegalovirus US6 glycoprotein, which binds to the lumenal side of the TAP complex and inhibits peptide translocation by specifically blocking ATP-binding to TAP1 and prevents the conformational rearrangement of TAP induced by peptide binding. Inhibited by human adenovirus E3-19K glycoprotein, which binds the TAP complex and acts as a tapasin inhibitor, preventing MHC class I/TAP association. Expression of TAP1 is down-regulated by human Epstein-Barr virus vIL-10 protein, thereby affecting the transport of peptides into the endoplasmic reticulum and subsequent peptide loading by MHC class I molecules ["None"] ["76-96", "114-136", "153-173", "194-214", "247-267", "288-308", "359-379", "389-409", "479-499", "504-524"] 1JJ7 X57522 36061 TAP1 Chromosome:6 6p21.3 TAP1 HGNC:43 true 2020-06-12T23:07:29Z 2020-06-12T23:07:29Z 0 0 0 4771 CDBP04770 Antigen peptide transporter 2 Q03519 TAP2_HUMAN false true Transporter Homo_sapiens TAP2 686 75663.2 8.1 Involved in ATP binding Involved in the transport of antigens from the cytoplasm to the endoplasmic reticulum for association with MHC class I molecules. Also acts as a molecular scaffold for the final stage of MHC class I folding, namely the binding of peptide. Nascent MHC class I molecules associate with TAP via tapasin. Inhibited by the covalent attachment of herpes simplex virus ICP47 protein, which blocks the peptide-binding site of TAP. Inhibited by human cytomegalovirus US6 glycoprotein, which binds to the lumenal side of the TAP complex and inhibits peptide translocation by specifically blocking ATP-binding to TAP1 and prevents the conformational rearrangement of TAP induced by peptide binding. Inhibited by human adenovirus E3-19K glycoprotein, which binds the TAP complex and acts as a tapasin inhibitor, preventing MHC class I/TAP association ["None"] ["7-27", "57-77", "99-119", "149-169", "188-208", "267-287", "294-314", "375-395", "409-429"] CT009502 168983733 TAP2 Chromosome:6 6p21.3 TAP2 HGNC:44 true 2020-06-12T23:07:29Z 2020-07-28T02:32:14Z 0 0 0 4772 CDBP04771 Kinesin-like protein KIFC1 Q9BW19 KIFC1_HUMAN false false Enzyme Homo_sapiens KIFC1 673 73747.1 9.35 Involved in microtubule motor activity Minus end-directed microtubule-dependent motor required for bipolar spindle formation. May contribute to movement of early endocytic vesicles ["None"] ["None"] NM_002263.3 167555110 KIFC1 Chromosome:6 6p21.3 KIFC1 HGNC:6389 true 2020-06-12T23:07:30Z 2020-07-28T02:34:25Z 0 0 0 4773 CDBP04772 Zinc finger protein 638 Q14966 ZN638_HUMAN false false Metal Binding Homo_sapiens ZNF638 1978 220622.9 6.31 Involved in nucleotide binding Binds to cytidine clusters in double-stranded DNA ["None"] ["None"] NM_001014972.1 62526045 ZNF638 Chromosome:2 2p13.1 ZNF638 HGNC:17894 true 2020-06-12T23:07:30Z 2020-07-28T02:32:05Z 0 1 0 4774 CDBP04773 CUGBP Elav-like family member 2 O95319 CELF2_HUMAN false false Enzyme Homo_sapiens CELF2 508 54284.4 9.01 Involved in nucleotide binding RNA-binding protein implicated in the regulation of several post-transcriptional events. Involved in pre-mRNA alternative splicing, mRNA translation and stability. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of TNNT2 in embryonic, but not adult, skeletal muscle. Activates TNNT2 exon 5 inclusion by antagonizing the repressive effect of PTB. Acts as both an activator and repressor of a pair of coregulated exons:promotes inclusion of the smooth muscle (SM) exon but exclusion of the non-muscle (NM) exon in actinin pre-mRNAs. Promotes inclusion of exonS 21 and exclusion of exon 5 of the NMDA receptor R1 pre- mRNA. Involved in the apoB RNA editing activity. Increases COX2 mRNA stability and inhibits COX2 mRNA translation in epithelial cells after radiation injury. Modulates the cellular apoptosis program by regulating COX2-mediated prostaglandin E2 (PGE2) expression. Binds to (CUG)n triplet repeats in the 3'-UTR of transcripts such as DMPK. Binds to the muscle-specific splicing enhancer (MSE) intronic sites flanking the TNNT2 alternative exon 5. Binds preferentially to UG-rich sequences, in particular UG repeat and UGUU motifs. Binds to apoB mRNA, specifically to AU-rich sequences located immediatly upstream of the edited cytidine. Binds AU-rich sequences in the 3'-UTR of COX2 mRNA. Binds to an intronic RNA element responsible for the silencing of exon 21 splicing. Binds to (CUG)n repeats ["None"] ["None"] NM_001025077.2 68303647 CELF2 Chromosome:1 10p13 CELF2 HGNC:2550 true 2020-06-12T23:07:30Z 2020-07-28T02:34:25Z 0 0 0 4775 CDBP04774 Beta-3 adrenergic receptor P13945 ADRB3_HUMAN false false Receptor Homo_sapiens ADRB3 408 43518.6 9.07 Involved in G-protein coupled receptor protein signaling pathway Beta-adrenergic receptors mediate the catecholamine- induced activation of adenylate cyclase through the action of G proteins. Beta-3 is involved in the regulation of lipolysis and thermogenesis ["None"] ["37-63", "73-91", "112-133", "156-178", "204-225", "293-314", "327-347"] X70811 312397 ADRB3 Chromosome:8 8p12 ADRB3 HGNC:288 true 2020-06-12T23:07:30Z 2020-07-28T02:30:21Z 1 0 0 4776 CDBP04775 Norepinephrine transporter isoform 2 Q9Y6W9 Q9Y6W9_HUMAN false true Transporter Homo_sapiens 53 6248.1 10.83 Involved in neurotransmitter:sodium symporter activity ["None"] ["None"] AB022847 5360691 HGNC:11048 true 2020-06-12T23:07:30Z 2020-07-28T02:32:14Z 0 0 0 4777 CDBP04776 Alpha-2C adrenergic receptor P18825 ADA2C_HUMAN false false Receptor Homo_sapiens ADRA2C 462 49521.6 10.69 Involved in G-protein coupled receptor protein signaling pathway Alpha-2 adrenergic receptors mediate the catecholamine- induced inhibition of adenylate cyclase through the action of G proteins ["None"] ["52-76", "89-114", "125-147", "169-191", "208-231", "380-407", "421-441"] 1HOF AF280399 11055419 ADRA2C Chromosome:4 4p16 ADRA2C HGNC:283 true 2020-06-12T23:07:30Z 2020-07-28T02:30:21Z 1 0 0 4778 CDBP04777 Norepinephrine transporter isoform 1 Q9UQ04 Q9UQ04_HUMAN false true Transporter Homo_sapiens 42 5031.7 7.8 Involved in neurotransmitter:sodium symporter activity ["None"] ["None"] AB022846 5360689 HGNC:11048 true 2020-06-12T23:07:30Z 2020-07-28T02:32:14Z 0 0 0 4779 CDBP04778 Norepinephrine transporter Q71UR5 Q71UR5_HUMAN false false Enzyme Homo_sapiens NET 18 1998.3 4.19 ["None"] ["None"] AF061198 4335929 NET true 2020-06-12T23:07:30Z 2020-07-28T02:34:25Z 0 0 0 4780 CDBP04779 APOBEC1 complementation factor Q9NQ94 A1CF_HUMAN false false Enzyme Homo_sapiens A1CF 594 65202.0 8.69 Involved in nucleotide binding Essential component of the apolipoprotein B mRNA editing enzyme complex which is responsible for the postranscriptional editing of a CAA codon for Gln to a UAA codon for stop in APOB mRNA. Binds to APOB mRNA and is probably responsible for docking the catalytic subunit, APOBEC1, to the mRNA to allow it to deaminate its target cytosine. The complex also protects the edited APOB mRNA from nonsense-mediated decay ["None"] ["None"] NM_001198820.1 311771768 A1CF Chromosome:1 10q11.23 A1CF HGNC:24086 true 2020-06-12T23:07:30Z 2020-07-28T02:34:25Z 0 0 0 4781 CDBP04780 Methyl-CpG-binding domain protein 1 Q9UIS9 MBD1_HUMAN false false Metal Binding Homo_sapiens MBD1 605 66606.5 9.25 Involved in DNA binding Transcriptional repressor that binds CpG islands in promoters where the DNA is methylated at position 5 of cytosine within CpG dinucleotides. Binding is abolished by the presence of 7-mG that is produced by DNA damage by methylmethanesulfonate (MMS). Acts as transcriptional repressor and plays a role in gene silencing by recruiting AFT7IP, which in turn recruits factors such as the histone methyltransferase SETDB1. Probably forms a complex with SETDB1 and ATF7IP that represses transcription and couples DNA methylation and histone 'Lys-9' trimethylation. Isoform 1 and isoform 2 can also repress transcription from unmethylated promoters ["None"] ["None"] 1IG4 NM_015846.3 21464117 MBD1 Chromosome:1 18q21 MBD1 HGNC:6916 true 2020-06-12T23:07:30Z 2020-07-28T02:32:05Z 0 1 0 4782 CDBP04781 Uracil nucleotide/cysteinyl leukotriene receptor Q13304 GPR17_HUMAN false false Receptor Homo_sapiens GPR17 367 40989.0 9.82 Involved in G-protein coupled receptor protein signaling pathway Dual specificity receptor for uracil nucleotides and cysteinyl leukotrienes (CysLTs). Signals through G(i) and inhibition of adenylyl cyclase. May mediate brain damage by nucleotides and CysLTs following ischemia ["None"] ["65-85", "93-113", "134-154", "176-196", "224-244", "261-281", "309-329"] NM_001161415.1 238814302 GPR17 Chromosome:2 2q21 GPR17 HGNC:4471 true 2020-06-12T23:07:30Z 2020-07-28T02:30:21Z 1 0 0 4783 CDBP04782 Oxoeicosanoid receptor 1 Q8TDS5 OXER1_HUMAN false false Receptor Homo_sapiens OXER1 423 45810.0 9.97 Involved in G-protein coupled receptor protein signaling pathway Receptor for eicosanoids and polyunsaturated fatty acids such as 5-oxo-6E,8Z,11Z,14Z-eicosatetraenoic acid (5-OXO-ETE), 5(S)-hydroperoxy-6E,8Z,11Z,14Z-eicosatetraenoic acid (5(S)-HPETE) and arachidonic acid. Seems to be coupled to the G(i)/G(o), families of heteromeric G proteins ["None"] ["98-118", "127-147", "169-191", "212-232", "255-275", "296-316", "337-357"] NM_148962.4 22507376 OXER1 Chromosome:2 2p21 OXER1 HGNC:24884 true 2020-06-12T23:07:30Z 2020-07-28T02:30:22Z 1 0 0 4784 CDBP04783 Voltage-gated potassium channel subunit beta-2 Q13303 KCAB2_HUMAN false true Transporter Homo_sapiens KCNAB2 367 40999.9 9.32 Involved in oxidoreductase activity Accessory potassium channel protein which modulates the activity of the pore-forming alpha subunit. Alters functional properties of Kv1.4 ["None"] ["None"] 1EXB AF029749 2599568 KCNAB2 Chromosome:1 1p36.3 KCNAB2 HGNC:6229 true 2020-06-12T23:07:30Z 2020-07-28T02:32:14Z 0 0 0 4785 CDBP04784 Thiamine transporter THTR-1 Q7Z7J1 Q7Z7J1_HUMAN false true Transporter Homo_sapiens SLC19A2 68 7567.7 9.39 Involved in folic acid binding ["None"] ["None"] AY288293 30962027 SLC19A2 Chromosome:1 1q23.3 SLC19A2 HGNC:10938 true 2020-06-12T23:07:30Z 2020-07-28T02:32:14Z 0 0 0 4786 CDBP04785 Solute carrier family 19 thiamine transporter member 2 B0FBR7 B0FBR7_HUMAN false false Enzyme Homo_sapiens SLC19A2 16 1539.7 10.45 ["None"] ["None"] EU302825 164370706 SLC19A2 Chromosome:1 1q23.3 true 2020-06-12T23:07:30Z 2020-07-28T02:34:25Z 0 0 0 4787 CDBP04786 Solute carrier family 19 (Thiamine transporter), member 2 Q5TIE1 Q5TIE1_HUMAN false true Transporter Homo_sapiens SLC19A2 459 51277.0 8.48 Involved in folic acid binding ["None"] ["None"] AL021068 56417731 SLC19A2 Chromosome:1 1q23.3 SLC19A2 HGNC:10938 true 2020-06-12T23:07:30Z 2020-07-28T02:32:14Z 0 0 0 4788 CDBP04787 Aquaporin-1 P29972 AQP1_HUMAN false true Transporter Homo_sapiens AQP1 269 28525.7 7.5 Involved in transporter activity Forms a water-specific channel that provides the plasma membranes of red cells and kidney proximal tubules with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient ["None"] ["8-36", "49-66", "95-115", "137-155", "167-183", "208-228"] 1H6I M77829 AQP1 Chromosome:7 7p14 AQP1 HGNC:633 true 2020-06-12T23:07:30Z 2020-07-28T02:32:14Z 0 0 0 4789 CDBP04788 Aquaporin-4 P55087 AQP4_HUMAN false true Transporter Homo_sapiens AQP4 323 34829.4 7.75 Involved in transporter activity Forms a water-specific channel. Osmoreceptor which regulates body water balance and mediates water flow within the central nervous system ["None"] ["37-57", "65-85", "116-136", "156-176", "185-205", "232-252"] BC022286 18490380 AQP4 Chromosome:1 18q11.2-q12.1 AQP4 HGNC:637 true 2020-06-12T23:07:30Z 2020-07-28T02:32:14Z 0 0 0 4790 CDBP04789 Aquaporin-10 Q96PS8 AQP10_HUMAN false true Transporter Homo_sapiens AQP10 301 31763.0 6.78 Involved in transporter activity Water channel required to promote glycerol permeability and water transport across cell membranes. May contribute to water transport in the upper portion of small intestine. Isoform 2 is not permeable to urea and glycerol ["None"] ["28-48", "53-73", "102-122", "157-177", "188-208"] AB066105 20372965 AQP10 Chromosome:1 1q21.3 AQP10 HGNC:16029 true 2020-06-12T23:07:30Z 2020-07-28T02:32:14Z 0 0 0 4791 CDBP04790 DNA replication licensing factor MCM6 Q14566 MCM6_HUMAN false false Enzyme Homo_sapiens MCM6 821 92888.38 5.418 Involved in DNA binding Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity. 2KLQ;2LE8 D84557 MCM6 2 2q21 MCM6 HGNC:6949 true hsa:4175 NP_005906.2:NM_005915.5 Component of the MCM2-7 complex. The complex forms a toroidal hexameric ring with the proposed subunit order MCM2-MCM6-MCM4-MCM7-MCM3-MCM5 (By simililarity). May interact with MCM10. Interacts with TIPIN. Interacts with CDT1. Interacts with MCMBP 2020-06-12T23:07:30Z 2020-07-28T02:34:25Z 0 0 0 4792 CDBP04791 DNA replication licensing factor MCM7 P33993 MCM7_HUMAN false false Enzyme Homo_sapiens MCM7 719 81307.22 6.454 Involved in nucleotide binding Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity. Required for S-phase checkpoint activation upon UV-induced damage. NM_005916.3 33469968 MCM7 7 7q21.3-q22.1 MCM7 HGNC:6950 true hsa:4176 NP_005907.3:NM_005916.3;NP_877577.1:NM_182776.1 Component of the MCM2-7 complex. The complex forms a toroidal hexameric ring with the proposed subunit order MCM2-MCM6-MCM4-MCM7-MCM3-MCM5 (By simililarity). Interacts with the ATR-ATRIP complex and with RAD17. Interacts with TIPIN. Interacts with MCMBP 2020-06-12T23:07:30Z 2020-07-28T02:34:25Z 0 0 0 4793 CDBP04792 Putative uncharacterized protein DKFZp686B20267 Q68D27 Q68D27_HUMAN false false Enzyme Homo_sapiens DKFZp686B20267 575 63966.5 6.86 Involved in catalytic activity ["None"] ["None"] CR749608 51476873 DKFZp686B20267 DKFZp686B20267 HGNC:6936 true 2020-06-12T23:07:30Z 2020-07-28T02:34:25Z 0 0 0 4794 CDBP04793 HERV-K_1p13.3 provirus ancestral Env polyprotein P61568 ENK13_HUMAN false false Enzyme Homo_sapiens 191 21461.4 6.78 Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution ["None"] ["None"] AK126628 34533179 true 2020-06-12T23:07:30Z 2020-07-28T02:34:25Z 0 0 0 4795 CDBP04794 P protein Q04671 P_HUMAN false true Transporter Homo_sapiens OCA2 838 92848.5 7.28 Involved in arsenite transmembrane transporter activity Could be involved in the transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. Regulates the pH of melanosome and the melanosome maturation. One of the components of the mammalian pigmentary system. Seems to regulate the post-translational processing of tyrosinase, which catalyzes the limiting reaction in melanin synthesis. May serve as a key control point at which ethnic skin color variation is determined. Major determinant of brown and/or blue eye color ["None"] ["180-197", "331-347", "354-370", "385-401", "424-440", "514-530", "621-637", "648-664", "680-696", "721-737", "761-777", "818-834"] NM_000275.2 157266326 OCA2 Chromosome:1 15q OCA2 HGNC:8101 true 2020-06-12T23:07:30Z 2020-07-28T02:32:14Z 0 0 0 4796 CDBP04795 Chondroitin sulfate proteoglycan 4 Q6UVK1 CSPG4_HUMAN false false Enzyme Homo_sapiens CSPG4 2322 250534.7 5.15 Involved in protein binding Proteoglycan playing a role in cell proliferation and migration which stimulates endothelial cells motility during microvascular morphogenesis. May also inhibit neurite outgrowth and growth cone collapse during axon regeneration. Cell surface receptor for collagen alpha 2(VI) which may confer cells ability to migrate on that substrate. Binds through its extracellular N- terminus growth factors, extracellular matrix proteases modulating their activity. May regulate MPP16-dependent degradation and invasion of type I collagen participating in melanoma cells invasion properties. May modulate the plasminogen system by enhancing plasminogen activation and inhibiting angiostatin. Functions also as a signal transducing protein by binding through its cytoplasmic C-terminus scaffolding and signaling proteins. May promote retraction fiber formation and cell polarization through Rho GTPase activation. May stimulate alpha-4, beta-1 integrin- mediated adhesion and spreading by recruiting and activating a signaling cascade through CDC42, ACK1 and BCAR1. May activate FAK and ERK1/ERK2 signaling cascades ["1-29"] ["2225-2245"] NM_001897.4 47419930 CSPG4 Chromosome:1 15q24.2 CSPG4 HGNC:2466 true 2020-06-12T23:07:30Z 2020-07-28T02:34:25Z 0 0 0 4797 CDBP04796 CD320 antigen Q9NPF0 CD320_HUMAN false false Enzyme Homo_sapiens CD320 282 28990.6 4.36 Involved in growth factor activity Germinal center-B (GC-B) cells differentiate into memory B-cells and plasma cells (PC) through interaction with T-cells and follicular dendritic cells (FDC). CD320 augments the proliferation of PC precursors generated by IL-10. Receptor for the cellular uptake of transcobalamin bound cobalamin ["1-35"] ["230-250"] NM_016579.3 7706111 CD320 Chromosome:1 19p13.3-p13.2 CD320 HGNC:16692 true 2020-06-12T23:07:30Z 2020-07-28T02:34:25Z 0 0 0 4798 CDBP04797 Putative uncharacterized protein TCN2 B5MBX2 B5MBX2_HUMAN false false Enzyme Homo_sapiens TCN2 423 47142.1 7.01 Involved in cobalamin binding ["None"] ["None"] NM_000355 21071010 TCN2 Chromosome:2 22q12.2 TCN2 HGNC:11653 true 2020-06-12T23:07:30Z 2020-07-28T02:34:25Z 0 0 0 4799 CDBP04798 Choline transporter-like protein 4 Q53GD3 CTL4_HUMAN false true Transporter Homo_sapiens SLC44A4 710 74503.595 8.728 NM_025257.2 148612887 SLC44A4 6 6p21.3 SLC44A4 HGNC:13941 true hsa:80736 NP_001171515.1:NM_001178044.1;NP_001171516.1:NM_001178045.1;NP_079533.2:NM_025257.2 2020-06-12T23:07:30Z 2020-06-12T23:07:30Z 0 0 0 4800 CDBP04799 Choline transporter-like protein 2 Q8IWA5 CTL2_HUMAN false true Transporter Homo_sapiens SLC44A2 706 79845.355 8.53 Involved in choline transmembrane transporter activity Isoform 1, but not isoform 3, exhibits some choline transporter activity. AJ245621 6996444 SLC44A2 19 19p13.1 SLC44A2 HGNC:17292 true hsa:57153 NP_001138528.1:NM_001145056.1;NP_065161.3:NM_020428.3 Present in supporting cells of the inner ear (at protein level). Only isoform 3 is expressed in inner ear vestibular tissue. Interacts with COCH 2020-06-12T23:07:30Z 2020-06-12T23:07:30Z 0 0 0 4801 CDBP04800 Choline transporter-like protein 3 Q8N4M1 CTL3_HUMAN false true Transporter Homo_sapiens SLC44A3 653 73782.63 7.693 NM_001114106.1 166235173 SLC44A3 1 1p21.3 SLC44A3 HGNC:28689 true hsa:126969 NP_001107578.1:NM_001114106.2;NP_001245269.1:NM_001258340.1;NP_001245271.1:NM_001258342.1;NP_001245272.1:NM_001258343.1;NP_689582.2:NM_152369.4 2020-06-12T23:07:30Z 2020-06-12T23:07:30Z 0 0 0 4802 CDBP04801 Sphingosine 1-phosphate receptor 3 Q99500 S1PR3_HUMAN false false Receptor Homo_sapiens S1PR3 378 42249.8 10.19 Involved in G-protein coupled receptor protein signaling pathway Receptor for the lysosphingolipid sphingosine 1- phosphate (S1P). S1P is a bioactive lysophospholipid that elicits diverse physiological effect on most types of cells and tissues. When expressed in rat HTC4 hepatoma cells, is capable of mediating S1P-induced cell proliferation and suppression of apoptosis ["None"] ["41-65", "73-101", "116-134", "154-179", "196-216", "244-265", "282-302"] AF022139 2668612 S1PR3 Chromosome:9 9q22.1-q22.2 S1PR3 HGNC:3167 true 2020-06-12T23:07:30Z 2020-07-28T02:30:23Z 1 0 0 4803 CDBP04802 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 Q9H1N7 S35B3_HUMAN false false Enzyme Homo_sapiens SLC35B3 401 44592.3 9.58 Involved in transmembrane transport Mediates the transport of adenosine 3'-phospho 5'- phosphosulfate (PAPS), from cytosol into Golgi. PAPS is a universal sulfuryl donor for sulfation events that take place in the Golgi. Compensates for the insufficient expression of SLC35B2/PAPST1 during the synthesis of sulfated glycoconjugates in the colon ["None"] ["78-98", "114-134", "147-167", "170-190", "196-216", "223-243", "267-287", "298-317", "324-346", "349-369"] AB231931 90991129 SLC35B3 Chromosome:6 6p24.3 SLC35B3 HGNC:21601 true 2020-06-12T23:07:30Z 2020-07-28T02:34:25Z 0 0 0 4804 CDBP04803 SEC14-like protein 3 Q9UDX4 S14L3_HUMAN false true Transporter Homo_sapiens SEC14L3 400 46047.8 5.97 Involved in transporter activity Probable hydrophobic ligand-binding protein; may play a role in the transport of hydrophobic ligands like tocopherol, squalene and phospholipids ["None"] ["None"] AY158086 SEC14L3 Chromosome:2 22q12.2 SEC14L3 HGNC:18655 true 2020-06-12T23:07:30Z 2020-07-28T02:32:14Z 0 0 0 4805 CDBP04804 SEC14-like protein 4 Q9UDX3 S14L4_HUMAN false true Transporter Homo_sapiens SEC14L4 406 46643.4 6.52 Involved in transporter activity Probable hydrophobic ligand-binding protein; may play a role in the transport of hydrophobic ligands like tocopherol, squalene and phospholipids ["None"] ["None"] AY158085 SEC14L4 Chromosome:2 22q12.2 SEC14L4 HGNC:20627 true 2020-06-12T23:07:30Z 2020-07-28T02:32:14Z 0 0 0 4806 CDBP04805 Osteomodulin Q99983 OMD_HUMAN false false Enzyme Homo_sapiens OMD 421 49491.7 5.36 Involved in protein binding May be implicated in biomineralization processes. Has a function in binding of osteoblasts via the alpha(V)beta(3)- integrin ["1-20"] ["None"] AB000114 1769800 OMD Chromosome:9 9q22.31 OMD HGNC:8134 true 2020-06-12T23:07:30Z 2020-07-28T02:34:25Z 0 0 0 4807 CDBP04806 Neuroendocrine secretory protein 55 O95467 GNAS3_HUMAN false false Enzyme Homo_sapiens GNAS 245 28028.3 5.2 Involved in female pregnancy ["1-46"] ["None"] AF105253 7532780 GNAS Chromosome:2 20q13.3 GNAS HGNC:4392 true 2020-06-12T23:07:30Z 2020-07-28T02:34:25Z 0 0 0 4808 CDBP04807 Cannabinoid receptor 1 P21554 CNR1_HUMAN false false Receptor Homo_sapiens CNR1 472 52857.4 8.25 Involved in G-protein coupled receptor protein signaling pathway Involved in cannabinoid-induced CNS effects. Acts by inhibiting adenylate cyclase. Could be a receptor for anandamide. Inhibits L-type Ca(2+) channel current. Isoform 2 and isoform 3 have altered ligand binding ["None"] ["117-142", "155-175", "188-212", "233-255", "274-299", "345-365", "378-399"] X54937 29915 CNR1 Chromosome:6 6q14-q15 CNR1 HGNC:2159 true 2020-06-12T23:07:30Z 2020-07-28T02:30:24Z 1 0 0 4809 CDBP04808 Neutrophil defensin 4 P12838 DEF4_HUMAN false false Enzyme Homo_sapiens DEFA4 97 10504.0 8.11 Involved in defense response Has antimicrobial activity against Gram-negative bacteria, and to a lesser extent also against Gram-positive bacteria and fungi. Protects blood cells against infection with HIV-1 (in vitro). Inhibits corticotropin (ACTH)-stimulated corticosterone production ["1-19"] ["None"] U18745 665927 DEFA4 Chromosome:8 8p23 DEFA4 HGNC:2763 true 2020-06-12T23:07:30Z 2020-07-28T02:34:25Z 0 0 0 4810 CDBP04809 Trace amine-associated receptor 1 Q96RJ0 TAAR1_HUMAN false false Receptor Homo_sapiens TAAR1 339 39091.3 8.82 Involved in G-protein coupled receptor protein signaling pathway Receptor for trace amines, including beta- phenylethylamine (b-PEA), p-tyramine (p-TYR), octopamine and tryptamine, with highest affinity for b-PEA and p-TYR. Unresponsive to classical biogenic amines, such as epinephrine and histamine and only partially activated by dopamine and serotonine. Trace amines are biogenic amines present in very low levels in mammalian tissues. Although some trace amines have clearly defined roles as neurotransmitters in invertebrates, the extent to which they function as true neurotransmitters in vertebrates has remained speculative. Trace amines are likely to be involved in a variety of physiological functions that have yet to be fully understood. The signal transduced by this receptor is mediated by the G(s)-class of G-proteins which activate adenylate cyclase ["None"] ["26-46", "60-80", "99-119", "137-157", "189-209", "253-273", "288-308"] AY180374 TAAR1 Chromosome:6 6q23.2 TAAR1 HGNC:17734 true 2020-06-12T23:07:30Z 2020-07-28T02:30:24Z 1 0 0 4811 CDBP04810 D(3) dopamine receptor P35462 DRD3_HUMAN false false Receptor Homo_sapiens DRD3 400 44224.3 9.07 Involved in G-protein coupled receptor protein signaling pathway This is one of the five types (D1 to D5) of receptors for dopamine. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase. Promotes cell proliferation ["None"] ["33-55", "67-92", "105-126", "150-172", "186-209", "330-351", "367-388"] U32499 DRD3 Chromosome:3 3q13.3 DRD3 HGNC:3024 true 2020-06-12T23:07:30Z 2020-07-28T02:30:24Z 1 0 0 4812 CDBP04811 Muscarinic acetylcholine receptor M3 P20309 ACM3_HUMAN false false Receptor Homo_sapiens CHRM3 590 66127.4 9.62 Involved in G-protein coupled receptor protein signaling pathway The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is Pi turnover ["68-91", "105-130", "143-164", "185-206", "230-252", "492-514", "527-546"] 2CSA AF498917 20302973 CHRM3 Chromosome:1 1q43 CHRM3 HGNC:1952 true NP_000731.1:NM_000740.3;NP_001334645.1-NM_001347716.1;XP_005273089.1-XM_005273032.3;XP_011542343.1-XM_011544041.2;XP_011542345.1-XM_011544043.2;XP_011542346.1-XM_011544044.2;XP_011542348.1-XM_011544046.2;XP_011542349.1-XM_011544047.2;XP_016855641.1-XM_017000152.1;XP_016855642.1-XM_017000153.1;XP_016855643.1-XM_017000154.1;XP_016855644.1-XM_017000155.1;XP_016855645.1-XM_017000156.1;XP_016855646.1-XM_017000157.1;XP_016855647.1-XM_017000158.1;XP_016855648.1-XM_017000159.1;XP_016855649.1-XM_017000160.1;XP_016855650.1-XM_017000161.1;XP_016855651.1-XM_017000162.1;XP_016855652.1-XM_017000163.1 Cell membrane; Cell junction; Synapse; Postsynaptic cell membrane; Basolateral cell membrane; Endoplasmic reticulum membrane 2020-06-12T23:07:30Z 2020-07-28T02:30:24Z 1 0 0 4813 CDBP04812 D(1A) dopamine receptor P21728 DRD1_HUMAN false false Receptor Homo_sapiens DRD1 446 49292.8 8.34 Involved in G-protein coupled receptor protein signaling pathway This is one of the five types (D1 to D5) of receptors for dopamine. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase ["None"] ["24-49", "61-87", "97-119", "139-163", "193-218", "273-299", "313-337"] X58987 30399 DRD1 Chromosome:5 5q35.1 DRD1 HGNC:3020 true 2020-06-12T23:07:30Z 2020-07-28T02:30:24Z 1 0 0 4814 CDBP04813 Muscarinic acetylcholine receptor M1 P11229 ACM1_HUMAN false false Receptor Homo_sapiens CHRM1 460 51420.4 9.67 Involved in G-protein coupled receptor protein signaling pathway The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is Pi turnover ["None"] ["25-47", "62-82", "100-121", "142-164", "187-209", "367-387", "402-421"] AF498915 20302969 CHRM1 Chromosome:1 11q13 CHRM1 HGNC:1950 true 2020-06-12T23:07:30Z 2020-07-28T02:30:24Z 1 0 0 4815 CDBP04814 Muscarinic acetylcholine receptor M2 P08172 ACM2_HUMAN false false Receptor Homo_sapiens CHRM2 466 51714.6 9.08 Involved in G-protein coupled receptor protein signaling pathway The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is adenylate cyclase inhibition ["None"] ["23-45", "60-80", "98-119", "140-162", "185-207", "389-409", "424-443"] AF498916 20302971 CHRM2 Chromosome:7 7q31-q35 CHRM2 HGNC:1951 true 2020-06-12T23:07:30Z 2020-07-28T02:30:24Z 1 0 0 4816 CDBP04815 Muscarinic acetylcholine receptor M4 P08173 ACM4_HUMAN false false Receptor Homo_sapiens CHRM4 479 53048.7 10.34 Involved in G-protein coupled receptor protein signaling pathway The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is inhibition of adenylate cyclase ["None"] ["32-54", "69-89", "107-128", "149-171", "194-216", "402-422", "437-456"] AF498918 20302975 CHRM4 Chromosome:1 11p12-p11.2 CHRM4 HGNC:1953 true 2020-06-12T23:07:30Z 2020-07-28T02:30:24Z 1 0 0 4817 CDBP04816 Muscarinic acetylcholine receptor M5 P08912 ACM5_HUMAN false false Receptor Homo_sapiens CHRM5 532 60073.2 9.64 Involved in G-protein coupled receptor protein signaling pathway The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is Pi turnover ["None"] ["30-53", "67-87", "105-126", "147-169", "192-214", "444-464", "479-498"] AF026263 2605722 CHRM5 Chromosome:1 15q26 CHRM5 HGNC:1954 true 2020-06-12T23:07:30Z 2020-07-28T02:30:25Z 1 0 0 4818 CDBP04817 B1 bradykinin receptor P46663 BKRB1_HUMAN false false Receptor Homo_sapiens BDKRB1 353 40494.3 9.57 Involved in G-protein coupled receptor protein signaling pathway This is a receptor for bradykinin. Could be a factor in chronic pain and inflammation ["None"] ["41-64", "74-98", "112-133", "156-178", "200-226", "248-272", "292-314"] AB065896 21929054 BDKRB1 Chromosome:1 14q32.1-q32.2 BDKRB1 HGNC:1029 true 2020-06-12T23:07:30Z 2020-07-28T02:30:25Z 1 0 0 4819 CDBP04818 Bradykinin B1 receptor Q71U72 Q71U72_HUMAN false false Receptor Homo_sapiens 18 2216.5 11.48 Involved in receptor activity ["None"] ["None"] AF117819 true 2020-06-12T23:07:30Z 2020-07-28T02:30:25Z 1 0 0 4820 CDBP04819 B2 bradykinin receptor basal promoter, allele BP-58-T Q13833 Q13833_HUMAN false false Receptor Homo_sapiens 40 4152.5 3.47 Involved in receptor activity ["None"] ["None"] X91664 1216155 true 2020-06-12T23:07:30Z 2020-07-28T02:30:25Z 1 0 0 4821 CDBP04820 B2 bradykinin receptor basal promoter, allele BP-58-C Q13832 Q13832_HUMAN false false Receptor Homo_sapiens 40 4140.4 3.47 Involved in receptor activity ["None"] ["None"] X91663 1216153 true 2020-06-12T23:07:30Z 2020-07-28T02:30:25Z 1 0 0 4822 CDBP04821 Putative uncharacterized protein DKFZp686O088 Q68DM8 Q68DM8_HUMAN false false Receptor Homo_sapiens DKFZp686O088 364 41493.8 8.48 Involved in G-protein coupled receptor protein signaling pathway ["None"] ["None"] CR749338 51476404 DKFZp686O088 DKFZp686O088 HGNC:1030 true 2020-06-12T23:07:30Z 2020-07-28T02:32:21Z 1 0 0 4823 CDBP04822 Cystinosin O60931 CTNS_HUMAN false false Enzyme Homo_sapiens CTNS 367 41737.6 9.21 Involved in L-cystine transmembrane transporter activity Thought to transport cystine out of lysosomes ["None"] ["122-142", "162-182", "206-226", "238-258", "262-282", "298-318", "336-356"] NM_004937.2 119943110 CTNS Chromosome:1 17p13 CTNS HGNC:2518 true 2020-06-12T23:07:30Z 2020-07-28T02:34:25Z 0 0 0 4824 CDBP04823 Gamma-aminobutyric acid receptor-associated protein O95166 GBRAP_HUMAN false false Receptor Homo_sapiens GABARAP 117 13917.9 9.21 Involved in beta-tubulin binding May play a role in intracellular transport of GABA(A) receptors and its interaction with the cytoskeleton ["None"] ["None"] 1KM7 AB030711 12641851 GABARAP Chromosome:1 17p13.1 GABARAP HGNC:4067 true 2020-06-12T23:07:30Z 2020-07-28T02:30:25Z 1 0 0 4825 CDBP04824 Gamma-aminobutyric acid receptor-associated protein-like 1 Q9H0R8 GBRL1_HUMAN false false Receptor Homo_sapiens GABARAPL1 117 14044.0 9.13 Involved in beta-tubulin binding Increases cell-surface expression of kappa-type opioid receptor through facilitating anterograde intracellular trafficking of the receptor ["None"] ["None"] AF087847 13375571 GABARAPL1 Chromosome:1 12p13.2 GABARAPL1 HGNC:4068 true 2020-06-12T23:07:30Z 2020-07-28T02:30:25Z 1 0 0 4826 CDBP04825 Eukaryotic translation initiation factor 5A-2 Q9GZV4 IF5A2_HUMAN false false Transcription Factor Homo_sapiens EIF5A2 153 16793.1 5.28 Involved in RNA binding mRNA-binding protein involved in translation elongation. Has an important function at the level of mRNA turnover, probably acting downstream of decapping. Involved in actin dynamics and cell cycle progression, mRNA decay and probably in a pathway involved in stress response and maintenance of cell wall integrity. Functions as a regulator of apoptosis. Mediates effects of polyamines on neuronal process extension and survival. May play an important role in brain development and function, and in skeletal muscle stem cell differentiation ["None"] ["None"] AF262027 9799080 EIF5A2 Chromosome:3 3q26.2 EIF5A2 HGNC:3301 true 2020-06-12T23:07:30Z 2020-07-28T02:32:07Z 0 0 1 4827 CDBP04826 Eukaryotic translation initiation factor 5A-1-like Q6IS14 IF5AL_HUMAN false false Transcription Factor Homo_sapiens EIF5AL1 154 16773.0 4.61 Involved in RNA binding mRNA-binding protein involved in translation elongation. Has an important function at the level of mRNA turnover, probably acting downstream of decapping. Involved in actin dynamics and cell cycle progression, mRNA decay and probably in a pathway involved in stress response and maintenance of cell wall integrity. Functions as a regulator of apoptosis. Mediates effects of polyamines on neuronal process extension and survival. May play an important role in brain development and function, and in skeletal muscle stem cell differentiation ["None"] ["None"] NM_001099692.1 153791632 EIF5AL1 Chromosome:1 10q22.3 EIF5AL1 HGNC:17419 true 2020-06-12T23:07:30Z 2020-07-28T02:32:07Z 0 0 1 4828 CDBP04827 Taste receptor type 1 member 3 Q7RTX0 TS1R3_HUMAN false false Receptor Homo_sapiens TAS1R3 852 93385.2 7.13 Involved in G-protein coupled receptor activity Putative taste receptor. TAS1R1/TAS1R3 responds to the umami taste stimulus (the taste of monosodium glutamate). TAS1R2/TAS1R3 recognizes diverse natural and synthetic sweeteners. TAS1R3 is essential for the recognition and response to the disaccharide trehalose. Sequence differences within and between species can significantly influence the selectivity and specificity of taste responses ["1-20"] ["571-591", "604-624", "640-660", "683-703", "730-750", "763-783", "790-810"] BK000152 20142349 TAS1R3 Chromosome:1 1p36.33 TAS1R3 HGNC:15661 true NP_689414.1:NM_152228.2 Cell membrane 2020-06-12T23:07:30Z 2020-07-28T02:30:25Z 1 0 0 4829 CDBP04828 Taste receptor type 1 member 2 Q8TE23 TS1R2_HUMAN false false Receptor Homo_sapiens TAS1R2 839 95182.5 6.49 Involved in G-protein coupled receptor activity Putative taste receptor. TAS1R2/TAS1R3 recognizes diverse natural and synthetic sweeteners ["1-19"] ["567-587", "603-623", "636-656", "682-702", "728-748", "761-781", "785-805"] AF458154 20142333 TAS1R2 Chromosome:1 1p36.13 TAS1R2 HGNC:14905 true 2020-06-12T23:07:30Z 2020-07-28T02:30:25Z 1 0 0 4830 CDBP04829 Nuclear receptor coactivator 6 Q14686 NCOA6_HUMAN false false Receptor Homo_sapiens NCOA6 2063 219144.8 10.06 Involved in chromatin binding Nuclear receptor coactivator that directly binds nuclear receptors and stimulates the transcriptional activities in a hormone-dependent fashion. Coactivates expression in an agonist- and AF2-dependent manner. Involved in the coactivation of different nuclear receptors, such as for steroids (GR and ERs), retinoids (RARs and RXRs), thyroid hormone (TRs), vitamin D3 (VDR) and prostanoids (PPARs). Probably functions as a general coactivator, rather than just a nuclear receptor coactivator. May also be involved in the coactivation of the NF-kappa-B pathway. May coactivate expression via a remodeling of chromatin and its interaction with histone acetyltransferase proteins ["None"] ["None"] AF128458 7140574 NCOA6 Chromosome:2 20q11 NCOA6 HGNC:15936 true 2020-06-12T23:07:30Z 2020-07-28T02:30:25Z 1 0 0 4831 CDBP04830 D(1B) dopamine receptor P21918 DRD5_HUMAN false false Receptor Homo_sapiens DRD5 477 52950.5 5.08 Involved in G-protein coupled receptor protein signaling pathway This is one of the five types (D1 to D5) of receptors for dopamine. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase ["None"] ["40-66", "78-104", "115-136", "159-180", "224-246", "297-320", "341-360"] AY136750 22658483 DRD5 Chromosome:4 4p16.1 DRD5 HGNC:3026 true 2020-06-12T23:07:30Z 2020-07-28T02:30:25Z 1 0 0 4832 CDBP04831 Dopamine D4 receptor Q99586 Q99586_HUMAN false false Receptor Homo_sapiens dopamine D4 receptor 95 9148.4 4.64 Involved in G-protein coupled receptor protein signaling pathway ["None"] ["None"] S82917 1835971 dopamine D4 receptor dopamine+D4+receptor HGNC:3025 true 2020-06-12T23:07:30Z 2020-07-28T02:30:25Z 1 0 0 4833 CDBP04832 Arginine vasopressin receptor 1 Q3S2J4 Q3S2J4_HUMAN false false Receptor Homo_sapiens AVPR1 418 46854.2 9.77 Involved in G-protein coupled receptor protein signaling pathway ["None"] ["None"] 1YTV DQ177277 74315883 AVPR1 AVPR1 HGNC:895 true 2020-06-12T23:07:30Z 2020-07-28T02:30:25Z 1 0 0 4834 CDBP04833 V1-vascular vasopressin receptor AVPR1A Q9UH72 Q9UH72_HUMAN false false Receptor Homo_sapiens 11 1071.2 6.23 Involved in receptor activity ["None"] ["None"] AF208541 true 2020-06-12T23:07:30Z 2020-07-28T02:30:25Z 1 0 0 4835 CDBP04834 Arginine vasopressin V2 receptor Q16271 Q16271_HUMAN false false Receptor Homo_sapiens 19 1905.1 7.36 Involved in receptor activity ["None"] ["None"] S75754 862508 true 2020-06-12T23:07:30Z 2020-07-28T02:30:25Z 1 0 0 4836 CDBP04835 Augmented expression in SLE 3 A2VED4 A2VED4_HUMAN false false Enzyme Homo_sapiens AILE3 96 11464.0 5.14 Involved in N-acetyltransferase activity ["None"] ["None"] BR000410 125976405 AILE3 AILE3 HGNC:10540 true 2020-06-12T23:07:30Z 2020-07-28T02:34:25Z 0 0 0 4837 CDBP04836 RPE-retinal G protein-coupled receptor P47804 RGR_HUMAN false false Receptor Homo_sapiens RGR 291 31873.8 8.14 Involved in G-protein coupled receptor protein signaling pathway Receptor for all-trans- and 11-cis-retinal. Binds preferentially to the former and may catalyze the isomerization of the chromophore by a retinochrome-like mechanism ["None"] ["16-36", "53-73", "92-112", "131-151", "176-196", "220-240", "248-268"] NM_001012720.1 61744454 RGR Chromosome:1 10q23 RGR HGNC:9990 true 2020-06-12T23:07:30Z 2020-07-28T02:30:26Z 1 0 0 4838 CDBP04837 Ammonium transporter Rh type C Q9UBD6 RHCG_HUMAN false true Transporter Homo_sapiens RHCG 479 53178.56 6.39 Involved in ammonium transmembrane transporter activity Functions as an electroneutral and bidirectional ammonium transporter. May regulate transepithelial ammonia secretion. 3HD6 AF193809 6625732 RHCG 15 15q25 RHCG HGNC:18140 true hsa:51458 NP_057405.1:NM_016321.1 Expressed in brain, testis, placenta, pancreas, esophagus and prostate. Expressed in squamous epithelial tissues (at protein level). According to PubMed:11062476, specifically expressed in kidney. Homotrimer 2020-06-12T23:07:30Z 2020-07-28T02:32:14Z 0 0 0 4839 CDBP04838 Ammonium transporter Rh type B Q9H310 RHBG_HUMAN false true Transporter Homo_sapiens RHBG 441 41645.92 6.467 Involved in ammonium transmembrane transporter activity Functions as a specific ammonium transporter. AL139130 55957802 RHBG 1 1q21.3 RHBG HGNC:14572 true hsa:57127 NP_001243324.1:NM_001256395.1;NP_001243325.1:NM_001256396.1;NP_065140.3:NM_020407.4 Specifically expressed in kidney. Also detected in liver and ovary. Interacts (via C-terminus) with ANK2 and ANK3; required for targeting to the basolateral membrane 2020-06-12T23:07:30Z 2020-07-28T02:32:14Z 0 0 0 4840 CDBP04839 CDGSH iron-sulfur domain-containing protein 1 Q9NZ45 CISD1_HUMAN false false Enzyme Homo_sapiens CISD1 108 12199.0 9.5 Involved in 2 iron, 2 sulfur cluster binding Plays a key role in regulating maximal capacity for electron transport and oxidative phosphorylation. May be involved in Fe-S cluster shuttling and/or in redox reactions ["None"] ["14-31"] AF220049 7689005 CISD1 Chromosome:1 10q21.1 CISD1 HGNC:30880 true 2020-06-12T23:07:31Z 2020-07-28T02:34:25Z 0 0 0 4841 CDBP04840 Cyclic nucleotide-gated cation channel beta-1 Q14028 CNGB1_HUMAN false false Enzyme Homo_sapiens CNGB1 1251 139676.6 4.46 Signal transduction mechanisms Isoform GARP2 is a high affinity rod photoreceptor phosphodiesterase (PDE6)-binding protein that modulates its catalytic properties:it is a regulator of spontaneous activation of rod PDE6, thereby serving to lower rod photoreceptor 'dark noise' and allowing these sensory cells to operate at the single photon detection limit ["None"] ["657-675", "690-708", "734-753", "791-813", "858-877", "962-982"] NM_001297.4 114205399 CNGB1 Chromosome:1 16q13 CNGB1 HGNC:2151 true 2020-06-12T23:07:31Z 2020-07-28T02:34:25Z 0 0 0 4842 CDBP04841 Potassium voltage-gated channel subfamily E member 1 P15382 KCNE1_HUMAN false true Transporter Homo_sapiens KCNE1 129 14674.7 7.6 Involved in voltage-gated potassium channel activity Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNQ1/KVLQT1 is proposed to form the slowly activating delayed rectifier cardiac potassium (IKs) channel. The outward current reaches its steady state only after 50 seconds. Assembled with KCNH2/HERG may modulate the rapidly activating component of the delayed rectifying potassium current in heart (IKr) ["None"] ["44-66"] AF135188 4583499 KCNE1 Chromosome:2 21q22.1-q22.2|21q22.12 KCNE1 HGNC:6240 true 2020-06-12T23:07:31Z 2020-07-28T02:32:14Z 0 0 0 4843 CDBP04842 Potassium voltage-gated channel subfamily KQT member 2 O43526 KCNQ2_HUMAN false true Transporter Homo_sapiens KCNQ2 872 95846.6 9.59 Involved in potassium channel activity Probably important in the regulation of neuronal excitability. Associates with KCNQ3 to form a potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the responsiveness to synaptic inputs. KCNQ2/KCNQ3 current is blocked by linopirdine and XE991, and activated by the anticonvulsant retigabine. Muscarinic agonist oxotremorine-M strongly suppress KCNQ2/KCNQ3 current in cells in which cloned KCNQ2/KCNQ3 channels were coexpressed with M1 muscarinic receptors ["None"] ["92-112", "123-143", "167-187", "196-218", "232-252", "292-312"] AF033348 2801452 KCNQ2 Chromosome:2 20q13.3 KCNQ2 HGNC:6296 true 2020-06-12T23:07:31Z 2020-07-28T02:32:14Z 0 0 0 4844 CDBP04843 Potassium voltage-gated channel subfamily A member 1 Q09470 KCNA1_HUMAN false true Transporter Homo_sapiens KCNA1 495 56465.0 4.82 Involved in protein binding Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient ["None"] ["168-186", "221-242", "254-274", "290-309", "326-345", "387-408"] 1EXB NM_000217.2 119395748 KCNA1 Chromosome:1 12p13.32 KCNA1 HGNC:6218 true 2020-06-12T23:07:31Z 2020-07-28T02:32:14Z 0 0 0 4845 CDBP04844 Potassium voltage-gated channel subfamily KQT member 3 O43525 KCNQ3_HUMAN false true Transporter Homo_sapiens KCNQ3 872 96741.5 9.2 Involved in potassium channel activity Probably important in the regulation of neuronal excitability. Associates with KCNQ2 or KCNQ5 to form a potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the responsiveness to synaptic inputs ["None"] ["122-142", "153-173", "197-217", "226-247", "262-282", "331-351"] NM_004519.2 4758630 KCNQ3 Chromosome:8 8q24 KCNQ3 HGNC:6297 true 2020-06-12T23:07:31Z 2020-07-28T02:32:14Z 0 0 0 4846 CDBP04845 Potassium voltage-gated channel subfamily E member 2 Q9Y6J6 KCNE2_HUMAN false true Transporter Homo_sapiens KCNE2 123 14471.4 5.65 Involved in voltage-gated potassium channel activity Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Associated with KCNH2/HERG is proposed to form the rapidly activating component of the delayed rectifying potassium current in heart (IKr). May associate with KCNQ2 and/or KCNQ3 and modulate the native M-type current. May associate with KCNQ1/KVLTQ1 and elicit a voltage-independent current. May associate with HCN1 and HCN2 and increase potassium current ["None"] ["49-69"] AF071002 4704423 KCNE2 Chromosome:2 21q22.12 KCNE2 HGNC:6242 true 2020-06-12T23:07:31Z 2020-07-28T02:32:14Z 0 0 0 4847 CDBP04846 Potassium voltage-gated channel subfamily D member 2 Q9NZV8 KCND2_HUMAN false true Transporter Homo_sapiens KCND2 630 70535.8 8.03 Involved in protein binding Pore-forming (alpha) subunit of voltage-gated rapidly inactivating A-type potassium channels. May contribute to I(To) current in heart and I(Sa) current in neurons. Channel properties are modulated by interactions with other alpha subunits and with regulatory subunits ["None"] ["184-204", "225-245", "260-280", "290-310", "324-344", "385-405"] 1NN7 AF121104 4530478 KCND2 Chromosome:7 7q31 KCND2 HGNC:6238 true 2020-06-12T23:07:31Z 2020-07-28T02:32:14Z 0 0 0 4848 CDBP04847 Potassium voltage-gated channel subfamily D member 3 Q9UK17 KCND3_HUMAN false true Transporter Homo_sapiens KCND3 655 73450.5 8.32 Involved in protein binding Pore-forming (alpha) subunit of voltage-gated rapidly inactivating A-type potassium channels. May contribute to I(To) current in heart and I(Sa) current in neurons. Channel properties are modulated by interactions with other alpha subunits and with regulatory subunits ["None"] ["182-202", "222-242", "257-277", "287-307", "321-341", "382-402"] 1S1G NM_004980.3 27436984 KCND3 Chromosome:1 1p13.3 KCND3 HGNC:6239 true 2020-06-12T23:07:31Z 2020-07-28T02:32:14Z 0 0 0 4849 CDBP04848 Potassium voltage-gated channel subfamily KQT member 5 Q9NR82 KCNQ5_HUMAN false true Transporter Homo_sapiens KCNQ5 932 102178.0 10.01 Involved in ion channel activity Probably important in the regulation of neuronal excitability. Associates with KCNQ3 to form a potassium channel which contributes to M-type current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons. May contribute, with other potassium channels, to the molecular diversity of an heterogeneous population of M-channels, varying in kinetic and pharmacological properties, which underlie this physiologically important current. Insensitive to tetraethylammonium, but inhibited by barium, linopirdine and XE991. Activated by niflumic acid and the anticonvulsant retigabine. Muscarine suppresses KCNQ5 current in Xenopus oocytes in which cloned KCNQ5 channels were coexpressed with M(1) muscarinic receptors ["None"] ["126-146", "157-177", "201-221", "230-252", "267-287", "326-346"] AF249278 9651967 KCNQ5 Chromosome:6 6q14 KCNQ5 HGNC:6299 true 2020-06-12T23:07:31Z 2020-07-28T02:32:14Z 0 0 0 4850 CDBP04849 Potassium voltage-gated channel subfamily A member 4 P22459 KCNA4_HUMAN false true Enzyme Homo_sapiens KCNA4 653 73287.6 4.67 Involved in protein binding Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient ["None"] ["308-326", "371-392", "404-424", "443-461", "478-497", "539-561"] 1QDV M55514 KCNA4 Chromosome:1 11p14 KCNA4 HGNC:6222 true 2020-06-12T23:07:31Z 2020-07-28T02:34:25Z 0 1 0 4851 CDBP04850 Potassium voltage-gated channel subfamily A member 3 P22001 KCNA3_HUMAN false true Transporter Homo_sapiens KCNA3 575 63841.1 5.68 Involved in protein binding Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient ["None"] ["235-253", "295-316", "328-348", "363-381", "398-417", "459-481"] 1QDV AL365361 55664008 KCNA3 Chromosome:1 1p13.3 KCNA3 HGNC:6221 true 2020-06-12T23:07:31Z 2020-07-28T02:32:14Z 0 0 0 4852 CDBP04851 Potassium voltage-gated channel subfamily C member 3 Q14003 KCNC3_HUMAN false true Transporter Homo_sapiens KCNC3 757 80577.2 6.5 Involved in protein binding This protein mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient ["None"] ["291-309", "351-370", "380-398", "412-434", "448-469", "518-539"] NM_004977.2 24497460 KCNC3 Chromosome:1 19q13.33 KCNC3 HGNC:6235 true 2020-06-12T23:07:31Z 2020-07-28T02:32:14Z 0 0 0 4853 CDBP04852 Potassium voltage-gated channel subfamily KQT member 4 P56696 KCNQ4_HUMAN false true Transporter Homo_sapiens KCNQ4 695 77100.0 9.95 Involved in ion channel activity Probably important in the regulation of neuronal excitability. May underlie a potassium current involved in regulating the excitability of sensory cells of the cochlea. KCNQ4 channels are blocked by linopirdin, XE991 and bepridil, whereas clofilium is without significant effect. Muscarinic agonist oxotremorine-M strongly suppress KCNQ4 current in CHO cells in which cloned KCNQ4 channels were coexpressed with M1 muscarinnic receptors ["None"] ["98-118", "132-152", "173-193", "202-224", "238-258", "297-317"] AF105202 4262523 KCNQ4 Chromosome:1 1p34 KCNQ4 HGNC:6298 true 2020-06-12T23:07:31Z 2020-07-28T02:32:14Z 0 0 0 4854 CDBP04853 Potassium voltage-gated channel subfamily C member 4 Q03721 KCNC4_HUMAN false true Transporter Homo_sapiens KCNC4 635 69766.1 6.98 Involved in protein binding This protein mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient ["None"] ["227-247", "278-298", "313-333", "345-364", "381-401", "452-472"] AL137790 56204186 KCNC4 Chromosome:1 1p21 KCNC4 HGNC:6236 true 2020-06-12T23:07:31Z 2020-07-28T02:32:14Z 0 0 0 4855 CDBP04854 Potassium channel subfamily K member 1 O00180 KCNK1_HUMAN false true Transporter Homo_sapiens KCNK1 336 38142.8 6.34 Involved in potassium channel activity Weakly inward rectifying potassium channel ["None"] ["21-41", "133-153", "178-198", "247-267"] U33632 KCNK1 Chromosome:1 1q42-q43 KCNK1 HGNC:6272 true 2020-06-12T23:07:31Z 2020-07-28T02:32:14Z 0 0 0 4856 CDBP04855 Folate receptor beta P14207 FOLR2_HUMAN false false Receptor Homo_sapiens FOLR2 255 29279.3 7.56 Involved in folic acid binding Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate to the interior of cells ["1-16"] ["None"] J02876 182414 FOLR2 Chromosome:1 11q13.3-q13.5 FOLR2 HGNC:3793 true 2020-06-12T23:07:31Z 2020-07-28T02:30:27Z 1 0 0 4857 CDBP04856 Mitochondrial folate transporter/carrier Q9H2D1 MFTC_HUMAN false true Transporter Homo_sapiens SLC25A32 315 35406.83 9.453 Involved in transporter activity Transports folate across the inner membranes of mitochondria. AF283645 11545417 SLC25A32 8 8q22.3 SLC25A32 HGNC:29683 true hsa:81034 NP_110407.2:NM_030780.3 Ubiquitous. 2020-06-12T23:07:31Z 2020-06-12T23:07:31Z 0 0 0 4858 CDBP04857 Folate transporter-like protein C2orf83 Q53S99 CB083_HUMAN false true Transporter Homo_sapiens C2orf83 150 10585.365 8.507 Involved in folic acid binding AC064853 62702230 C2orf83 2 2q36.3 C2orf83 HGNC:25344 true hsa:56918 NP_001155955.1:NM_001162483.1;NP_064546.3:NM_020161.3 2020-06-12T23:07:31Z 2020-07-28T02:32:14Z 0 0 0 4859 CDBP04858 Probable folate receptor delta A6ND01 FOLR4_HUMAN false false Receptor Homo_sapiens FOLR4 244 28132.0 6.22 Involved in folic acid binding ["1-19"] ["None"] NM_001080486 122937406 FOLR4 Chromosome:1 11q21 FOLR4 HGNC:32565 true 2020-06-12T23:07:31Z 2020-07-28T02:30:27Z 1 0 0 4860 CDBP04859 Neuronal acetylcholine receptor subunit alpha-2 Q15822 ACHA2_HUMAN false true Receptor Homo_sapiens CHRNA2 529 59764.8 6.02 Involved in extracellular ligand-gated ion channel activity After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane ["1-26"] ["265-289", "297-315", "331-352", "503-521"] NM_000742.3 153792669 CHRNA2 Chromosome:8 8p21 CHRNA2 HGNC:1956 true 2020-06-12T23:07:31Z 2020-07-28T02:30:27Z 1 0 0 4861 CDBP04860 5-hydroxytryptamine receptor 3B O95264 5HT3B_HUMAN false true Receptor Homo_sapiens HTR3B 441 50291.3 4.99 Involved in extracellular ligand-gated ion channel activity This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand-gated ion channel, which when activated causes fast, depolarizing responses. It is a cation-specific, but otherwise relatively nonselective, ion channel ["1-21"] ["239-259", "269-286", "304-324", "415-435"] AF080582 4218949 HTR3B Chromosome:1 11q23.1 HTR3B HGNC:5298 true 2020-06-12T23:07:31Z 2020-07-28T02:30:27Z 1 0 0 4862 CDBP04861 5-hydroxytryptamine receptor 1E P28566 5HT1E_HUMAN false false Receptor Homo_sapiens HTR1E 365 41681.6 8.98 Involved in G-protein coupled receptor protein signaling pathway This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins that inhibit adenylate cyclase activity ["None"] ["23-47", "60-81", "97-118", "139-159", "180-201", "292-314", "325-347"] M91467 HTR1E Chromosome:6 6q14-q15 HTR1E HGNC:5291 true 2020-06-12T23:07:31Z 2020-07-28T02:30:27Z 1 0 0 4863 CDBP04862 5-hydroxytryptamine receptor 5A P47898 5HT5A_HUMAN false false Receptor Homo_sapiens HTR5A 357 40254.7 8.82 Involved in G-protein coupled receptor protein signaling pathway This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins ["None"] ["41-63", "79-99", "116-137", "159-181", "199-219", "283-303", "321-341"] AF498985 20379144 HTR5A Chromosome:7 7q36.1 HTR5A HGNC:5300 true 2020-06-12T23:07:31Z 2020-07-28T02:30:27Z 1 0 0 4864 CDBP04863 Metabotropic glutamate receptor 8 O00222 GRM8_HUMAN false false Receptor Homo_sapiens GRM8 908 101739.6 8.21 Involved in G-protein coupled receptor activity Receptor for glutamate. The activity of this receptor is mediated by a G-protein that inhibits adenylate cyclase activity ["1-33"] ["584-608", "621-641", "648-668", "696-716", "747-768", "782-803", "819-843"] U95025 2435410 GRM8 Chromosome:7 7q31.3-q32.1 GRM8 HGNC:4600 true 2020-06-12T23:07:31Z 2020-07-28T02:30:28Z 1 0 0 4865 CDBP04864 Metabotropic glutamate receptor 4 Q14833 GRM4_HUMAN false false Receptor Homo_sapiens GRM4 912 101866.8 8.98 Involved in G-protein coupled receptor activity Receptor for glutamate. The activity of this receptor is mediated by a G-protein that inhibits adenylate cyclase activity ["1-32"] ["588-610", "625-645", "657-675", "700-720", "751-772", "786-808", "822-847"] X80818 1160183 GRM4 Chromosome:6 6p21.3 GRM4 HGNC:4596 true 2020-06-12T23:07:31Z 2020-07-28T02:30:28Z 1 0 0 4866 CDBP04865 Metabotropic glutamate receptor 7 Q14831 GRM7_HUMAN false false Receptor Homo_sapiens GRM7 915 102250.1 7.94 Involved in G-protein coupled receptor activity Receptor for glutamate. The activity of this receptor is mediated by a G-protein that inhibits adenylate cyclase activity ["1-34"] ["591-615", "628-648", "655-675", "703-723", "754-775", "789-810", "826-850"] X94552 1370111 GRM7 Chromosome:3 3p26.1-p25.1 GRM7 HGNC:4599 true 2020-06-12T23:07:31Z 2020-07-28T02:30:28Z 1 0 0 4867 CDBP04866 tRNA-specific adenosine deaminase 1 Q9BUB4 ADAT1_HUMAN true false Enzyme Homo_sapiens ADAT1 502 Involved in RNA binding Specifically deaminates adenosine-37 to inosine in tRNA-Ala. AF125188 5726241 ADAT1 ADAT1 HGNC:228 true hsa:23536 NP_036223.2:NM_012091.3 Ubiquitously expressed. inositol hexakisphosphate (IP6) 2020-06-12T23:07:31Z 2020-07-28T02:30:28Z 0 1 0 4868 CDBP04867 Transient receptor potential cation channel subfamily A member 1 O75762 TRPA1_HUMAN false true Receptor Homo_sapiens TRPA1 1119 127485.8 7.08 Receptor-activated non-selective cation channel involved in detection of pain and possibly also in cold perception and inner ear function. Has a central role in the pain response to endogenous inflammatory mediators and to a diverse array of volatile irritants, such as mustard oil, garlic and acrolein, an irritant from tears gas and vehicule exhaust fumes. Acts also as a ionotropic cannabinoid receptor by being activated by delta(9)- tetrahydrocannabinol (THC), the psychoactive component of marijuana. Not involved in menthol sensation. May be a component for the mechanosensitive transduction channel of hair cells in inner ear, thereby participating in the perception of sounds. Probably operated by a phosphatidylinositol second messenger system ["None"] ["720-740", "773-793", "806-826", "830-850", "874-894", "941-961"] Y10601 3287188 TRPA1 Chromosome:8 8q13 true 2020-06-12T23:07:31Z 2020-07-28T02:30:28Z 1 0 0 4869 CDBP04868 Nuclear receptor corepressor 2 Q9Y618 NCOR2_HUMAN false false Receptor Homo_sapiens NCOR2 2525 274801.7 7.63 Involved in DNA binding Mediates the transcriptional repression activity of some nuclear receptors by promoting chromatin condensation, thus preventing access of the basal transcription. Isoform 1 and isoform 5 have different affinities for different nuclear receptors ["None"] ["None"] 1XC5 116256453 NCOR2 Chromosome:1 12q24 NCOR2 HGNC:7673 true 2020-06-12T23:07:31Z 2020-07-28T02:30:28Z 1 0 1 4870 CDBP04869 CHIA protein A5D6V7 A5D6V7_HUMAN false false Enzyme Homo_sapiens CHIA 407 44306.1 5.9 Involved in chitin binding ["None"] ["None"] BC139901 146218445 CHIA Chromosome:1 1p13.2 CHIA HGNC:17432 true 2020-06-12T23:07:31Z 2020-07-28T02:34:25Z 0 0 0 4871 CDBP04870 Chitinase, acidic Q5VUV5 Q5VUV5_HUMAN true false Enzyme Homo_sapiens CHIA 420 45461.2 4.79 Involved in chitin binding ["None"] ["None"] AL356387 56205871 CHIA Chromosome:1 1p13.2 CHIA HGNC:17432 true 2020-06-12T23:07:31Z 2020-07-28T02:30:28Z 0 0 0 4872 CDBP04871 Urea transporter JK glycoprotein Q8WXW8 Q8WXW8_HUMAN false true Transporter Homo_sapiens JK 36 3988.6 7.54 Involved in urea transmembrane transporter activity ["None"] ["None"] AF328890 17225555 JK JK HGNC:10918 true 2020-06-12T23:07:31Z 2020-07-28T02:32:14Z 0 0 0 4873 CDBP04872 Blood group Kidd urea transporter Q71UV7 Q71UV7_HUMAN false true Transporter Homo_sapiens HUT11 54 5627.5 3.88 Involved in urea transmembrane transporter activity ["None"] ["None"] AF046026 3820490 HUT11 HUT11 HGNC:10918 true 2020-06-12T23:07:31Z 2020-07-28T02:32:14Z 0 0 0 4874 CDBP04873 Melatonin receptor type 1A P48039 MTR1A_HUMAN false false Receptor Homo_sapiens MTNR1A 350 39374.3 9.75 Involved in G-protein coupled receptor protein signaling pathway High affinity receptor for melatonin. Likely to mediates the reproductive and circadian actions of melatonin. The activity of this receptor is mediated by pertussis toxin sensitive G proteins that inhibit adenylate cyclase activity ["None"] ["30-50", "64-84", "103-123", "143-163", "188-208", "241-261", "275-295"] AB029933 6045085 MTNR1A Chromosome:4 4q35.1 MTNR1A HGNC:7463 true 2020-06-12T23:07:31Z 2020-07-28T02:30:28Z 1 0 0 4875 CDBP04874 Melatonin receptor type 1B P49286 MTR1B_HUMAN false false Receptor Homo_sapiens MTNR1B 362 40187.9 8.91 Involved in G-protein coupled receptor protein signaling pathway High affinity receptor for melatonin. Likely to mediates the reproductive and circadian actions of melatonin. The activity of this receptor is mediated by pertussis toxin sensitive G proteins that inhibit adenylate cyclase activity ["None"] ["43-63", "77-97", "116-136", "156-176", "201-221", "254-274", "288-308"] U25341 971194 MTNR1B Chromosome:1 11q21-q22 MTNR1B HGNC:7464 true 2020-06-12T23:07:31Z 2020-07-28T02:30:28Z 1 0 0 4876 CDBP04875 Proton-coupled amino acid transporter 2 Q495M3 S36A2_HUMAN false false Enzyme Homo_sapiens SLC36A2 483 53215.7 8.2 Amino acid transport and metabolism Involved in a pH-dependent electrogenic neuronal transport and sequestration of small amino acids amino acids such as glycine, alanine and proline. Inhibited by sarcosine ["None"] ["59-79", "82-102", "149-169", "198-218", "223-243", "265-285", "297-317", "350-370", "380-400", "405-425", "438-458"] AK122630 34527813 SLC36A2 Chromosome:5 5q33.1 SLC36A2 HGNC:18762 true 2020-06-12T23:07:31Z 2020-07-28T02:34:26Z 0 0 0 4877 CDBP04876 Type-2 angiotensin II receptor P50052 AGTR2_HUMAN false false Receptor Homo_sapiens AGTR2 363 41183.4 9.34 Involved in G-protein coupled receptor protein signaling pathway Receptor for angiotensin II. Cooperates with MTUS1 to inhibit ERK2 activation and cell proliferation ["None"] ["46-71", "81-102", "120-140", "161-179", "209-234", "257-278", "298-318"] AK313927 189054128 AGTR2 AGTR2 HGNC:338 true 2020-06-12T23:07:31Z 2020-07-28T02:30:28Z 1 0 0 4878 CDBP04877 Type-1 angiotensin II receptor-associated protein Q6RW13 ATRAP_HUMAN false false Receptor Homo_sapiens AGTRAP 159 17419.0 6.07 Involved in protein binding Appears to be a negative regulator of type-1 angiotensin II receptor-mediated signaling by regulating receptor internalisation as well as mechanism of receptor desensitization such as phosphorylation. Induces also a decrease in cell proliferation and angiotensin II-stimulated transcriptional activity ["None"] ["24-44", "56-76", "87-107"] AF165187 9621816 AGTRAP Chromosome:1 1p36.22 AGTRAP HGNC:13539 true 2020-06-12T23:07:31Z 2020-07-28T02:30:28Z 1 0 0 4879 CDBP04878 Selenoprotein T P62341 SELT_HUMAN false false Enzyme Homo_sapiens SELT 195 22324.0 8.8 Involved in selenium binding ["1-19"] ["None"] NM_016275.3 42789380 SELT Chromosome:3 3q25.1 true 2020-06-12T23:07:31Z 2020-07-28T02:34:26Z 0 0 0 4880 CDBP04879 Metallothionein-1E P04732 MT1E_HUMAN false false Metal Binding Homo_sapiens MT1E 61 6014.1 8.0 Involved in metal ion binding Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids ["None"] ["None"] 4MT2 AF348996 54292710 MT1E Chromosome:1 16q13 MT1E HGNC:7397 true 2020-06-12T23:07:31Z 2020-07-28T02:32:05Z 0 1 0 4881 CDBP04880 Metallothionein-1F P04733 MT1F_HUMAN false false Metal Binding Homo_sapiens MT1F 61 6086.1 7.87 Involved in metal ion binding Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids ["None"] ["None"] NM_005949.3 28866947 MT1F Chromosome:1 16q13 MT1F HGNC:7398 true 2020-06-12T23:07:31Z 2020-07-28T02:32:05Z 0 1 0 4882 CDBP04881 Metallothionein-1G P13640 MT1G_HUMAN false false Metal Binding Homo_sapiens MT1G 62 6141.2 8.0 Involved in metal ion binding Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids ["None"] ["None"] BC020757 18089134 MT1G Chromosome:1 16q13 MT1G HGNC:7399 true 2020-06-12T23:07:31Z 2020-07-28T02:32:05Z 0 1 0 4883 CDBP04882 Metallothionein-1H P80294 MT1H_HUMAN false false Metal Binding Homo_sapiens MT1H 61 6039.1 8.1 Involved in metal ion binding Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids ["None"] ["None"] BC008408 14250024 MT1H Chromosome:1 16q13 MT1H HGNC:7400 true 2020-06-12T23:07:31Z 2020-07-28T02:32:05Z 0 1 0 4884 CDBP04883 Metallothionein-1X P80297 MT1X_HUMAN false false Metal Binding Homo_sapiens MT1X 61 6068.1 8.0 Involved in metal ion binding Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids ["None"] ["None"] NM_005952.3 10835232 MT1X Chromosome:1 16q13 MT1X HGNC:7405 true 2020-06-12T23:07:31Z 2020-07-28T02:32:05Z 0 1 0 4885 CDBP04884 Metallothionein-1L Q93083 MT1L_HUMAN false false Metal Binding Homo_sapiens MT1L 61 6062.1 8.0 Involved in metal ion binding Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids ["None"] ["None"] 4MT2 X97261 1495464 MT1L Chromosome:1 16q13 MT1L HGNC:7404 true 2020-06-12T23:07:31Z 2020-07-28T02:32:05Z 0 1 0 4886 CDBP04885 Metallothionein-1M Q8N339 MT1M_HUMAN false false Metal Binding Homo_sapiens MT1M 61 6110.1 7.73 Involved in metal ion binding Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids ["None"] ["None"] AF136177 33150778 MT1M Chromosome:1 16q13 MT1M HGNC:14296 true 2020-06-12T23:07:31Z 2020-07-28T02:32:05Z 0 1 0 4887 CDBP04886 Metallothionein-1A P04731 MT1A_HUMAN false false Metal Binding Homo_sapiens MT1A 61 6120.2 8.0 Involved in metal ion binding Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids ["None"] ["None"] NM_005946.2 71274113 MT1A Chromosome:1 16q13 MT1A HGNC:7393 true 2020-06-12T23:07:31Z 2020-07-28T02:32:05Z 0 1 0 4888 CDBP04887 Metallothionein-1B P07438 MT1B_HUMAN false false Metal Binding Homo_sapiens MT1B 61 6115.2 8.08 Involved in metal ion binding Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids ["None"] ["None"] AY168638 27362959 MT1B Chromosome:1 16q13 MT1B HGNC:7394 true 2020-06-12T23:07:31Z 2020-07-28T02:32:05Z 0 1 0 4889 CDBP04888 Hyaluronan mediated motility receptor O75330 HMMR_HUMAN false false Receptor Homo_sapiens HMMR 724 84099.8 5.57 Replication, recombination and repair Involved in cell motility. When hyaluronan binds to HMMR, the phosphorylation of a number of proteins, including the focal adhesion kinase occurs. May also be involved in cellular transformation and metastasis formation, and in regulating extracellular-regulated kinase (ERK) activity ["None"] ["None"] NM_012484.2 217416394 HMMR Chromosome:5 5q33.2-qter HMMR HGNC:5012 true 2020-06-12T23:07:31Z 2020-07-28T02:30:29Z 1 0 0 4890 CDBP04889 Stabilin-2 Q8WWQ8 STAB2_HUMAN false false Enzyme Homo_sapiens STAB2 2551 276985.6 6.38 Involved in binding Phosphatidylserine receptor that enhances the engulfment of apoptotic cells. Hyaluronan receptor that binds to and mediates endocytosis of hyaluronic acid (HA). Acts also, in different species, as a primary systemic scavenger receptor for heparin (Hep), chondroitin sulfate (CS), dermatan sulfate (DS), nonglycosaminoglycan (GAG), acetylated low-density lipoprotein (AcLDL), pro-collagen propeptides and advanced glycation end products (AGE). May serve to maintain tissue integrity by supporting extracellular matrix turnover or it may contribute to maintaining fluidity of bodily liquids by resorption of hyaluronan. Counter receptor which plays an important role in lymphocyte recruitment in the hepatic vasculature. Binds to both Gram-positive and Gram-negative bacteria and may play a role in defense against bacterial infection. The proteolytically processed 190 kDa form also functions as an endocytosis receptor for heparin internalisation as well as HA and CS ["1-19"] ["2459-2479"] AB052958 22779441 STAB2 Chromosome:1 12q23.3 STAB2 HGNC:18629 true 2020-06-12T23:07:31Z 2020-07-28T02:34:26Z 0 0 0 4891 CDBP04890 Interphotoreceptor matrix proteoglycan 2 Q9BZV3 IMPG2_HUMAN false false Receptor Homo_sapiens IMPG2 1241 138619.4 4.24 Involved in extracellular matrix structural constituent Chondroitin sulfate- and hyaluronan-binding proteoglycan involved in the organization of interphotoreceptor matrix; may participate in the maturation and maintenance of the light- sensitive photoreceptor outer segment. Binds heparin ["1-22"] ["1100-1120"] NM_016247.2 57242793 IMPG2 Chromosome:3 3q12.2-q12.3 IMPG2 HGNC:18362 true 2020-06-12T23:07:31Z 2020-07-28T02:30:29Z 1 0 0 4892 CDBP04891 Lymphatic vessel endothelial hyaluronic acid receptor 1 Q9Y5Y7 LYVE1_HUMAN false false Receptor Homo_sapiens LYVE1 322 35213.1 8.39 Involved in binding Ligand-specific transporter trafficking between intracellular organelles (TGN) and the plasma membrane. Plays a role in autocrine regulation of cell growth mediated by growth regulators containing cell surface retention sequence binding (CRS). May act as an hyaluronan (HA) transporter, either mediating its uptake for catabolism within lymphatic endothelial cells themselves, or its transport into the lumen of afferent lymphatic vessels for subsequent re-uptake and degradation in lymph nodes ["1-19"] ["239-259"] AF118108 5359673 LYVE1 Chromosome:1 11p15 LYVE1 HGNC:14687 true 2020-06-12T23:07:31Z 2020-07-28T02:30:29Z 1 0 0 4893 CDBP04892 Hyaluronan and proteoglycan link protein 1 P10915 HPLN1_HUMAN false false Enzyme Homo_sapiens HAPLN1 354 40165.2 7.45 Involved in binding Stabilizes the aggregates of proteoglycan monomers with hyaluronic acid in the extracellular cartilage matrix ["None"] ["None"] AK313713 189053949 HAPLN1 Chromosome:5 5q14.3 HAPLN1 HGNC:2380 true 2020-06-12T23:07:31Z 2020-07-28T02:34:26Z 0 0 0 4894 CDBP04893 Hyaluronan and proteoglycan link protein 2 Q9GZV7 HPLN2_HUMAN false false Enzyme Homo_sapiens HAPLN2 340 37774.7 8.95 Involved in binding Mediates a firm binding of versican V2 to hyaluronic acid. May play a pivotal role in the formation of the hyaluronan- associated matrix in the central nervous system (CNS) which facilitates neuronal conduction and general structural stabilization. Binds to hyaluronic acid ["1-26"] ["None"] AB049054 11094293 HAPLN2 Chromosome:1 1q23.1 HAPLN2 HGNC:17410 true 2020-06-12T23:07:31Z 2020-07-28T02:34:26Z 0 0 0 4895 CDBP04894 Hyaluronan and proteoglycan link protein 3 Q96S86 HPLN3_HUMAN false false Enzyme Homo_sapiens HAPLN3 360 40894.0 6.5 Involved in binding May function in hyaluronic acid binding ["1-17"] AK292055 158257542 HAPLN3 Chromosome:1 15q26.1 HAPLN3 HGNC:21446 true NP_001294881.1:NM_001307952.1;NP_839946.1-NM_178232.3 Secreted; Extracellular space; Extracellular matrix 2020-06-12T23:07:31Z 2020-07-28T02:34:26Z 0 0 0 4896 CDBP04895 Hyaluronan and proteoglycan link protein 4 Q86UW8 HPLN4_HUMAN false false Enzyme Homo_sapiens HAPLN4 402 42801.1 8.97 Involved in binding Binds to hyaluronic acid and may be involved in formation of the extracellular matrix ["1-29"] ["None"] NM_023002.2 30794472 HAPLN4 Chromosome:1 19p13.1 HAPLN4 HGNC:31357 true 2020-06-12T23:07:31Z 2020-07-28T02:34:26Z 0 0 0 4897 CDBP04896 Stabilin-1 Q9NY15 STAB1_HUMAN false false Enzyme Homo_sapiens STAB1 2570 275479.9 6.48 Involved in binding Acts as a scavenger receptor for acetylated low density lipoprotein. Binds to both Gram-positive and Gram-negative bacteria and may play a role in defense against bacterial infection. When inhibited in endothelial tube formation assays, there is a marked decrease in cell-cell interactions, suggesting a role in angiogenesis. Involved in the delivery of newly synthesized CHID1/SI-CLP from the biosynthetic compartment to the endosomal/lysosomal system ["1-25"] ["2479-2499"] AB052956 22779437 STAB1 Chromosome:3 3p21.1 STAB1 HGNC:18628 true 2020-06-12T23:07:31Z 2020-07-28T02:34:26Z 0 0 0 4898 CDBP04897 Layilin Q6UX15 LAYN_HUMAN false false Enzyme Homo_sapiens LAYN 382 43108.1 4.58 Involved in binding Receptor for hyaluronate ["1-21"] ["236-256"] AY358554 37182231 LAYN Chromosome:1 11q23.1 LAYN HGNC:29471 true 2020-06-12T23:07:31Z 2020-07-28T02:34:26Z 0 0 0 4899 CDBP04898 Sushi domain-containing protein 5 O60279 SUSD5_HUMAN false false Enzyme Homo_sapiens SUSD5 629 68020.6 4.53 Involved in binding ["1-35"] ["575-595"] NM_015551.1 150378552 SUSD5 Chromosome:3 3p22.3 SUSD5 HGNC:29061 true 2020-06-12T23:07:31Z 2020-07-28T02:34:26Z 0 0 0 4900 CDBP04899 Zinc finger protein 224 Q9NZL3 ZN224_HUMAN false false Enzyme Homo_sapiens ZNF224 707 82247.8 8.79 Involved in nucleic acid binding May be involved in transcriptional regulation as a transcriptional repressor ["None"] ["None"] NM_013398.2 289547615 ZNF224 Chromosome:1 19q13.2 ZNF224 HGNC:13017 true 2020-06-12T23:07:31Z 2020-07-28T02:34:26Z 0 1 1 4901 CDBP04900 Zinc finger protein OZF Q15072 OZF_HUMAN false false Metal Binding Homo_sapiens ZNF146 292 33307.7 9.1 Involved in zinc ion binding ["None"] ["None"] NM_001099638.1 153791687 ZNF146 Chromosome:1 19q13.1 ZNF146 HGNC:12931 true 2020-06-12T23:07:31Z 2020-07-28T02:32:05Z 0 1 0 4902 CDBP04901 Zinc finger and BTB domain-containing protein 16 Q05516 ZBT16_HUMAN false false Metal Binding Homo_sapiens ZBTB16 673 74273.5 6.45 Involved in protein binding Probable transcription factor. May play a role in myeloid maturation and in the development and/or maintenance of other differentiated tissues. Probable substrate-recognition component of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins ["None"] ["None"] 1BUO AF060568 4138922 ZBTB16 Chromosome:1 11q23.1 ZBTB16 HGNC:12930 true 2020-06-12T23:07:31Z 2020-07-28T02:32:05Z 0 1 0 4903 CDBP04902 Zinc finger and BTB domain-containing protein 17 Q13105 ZBT17_HUMAN false false Metal Binding Homo_sapiens ZBTB17 803 87927.0 6.42 Involved in protein binding May function as a housekeeping DNA-binding protein that regulates the expression of specific genes. Has been shown to bind to the promoters of adenovirus major late protein and cyclin D1 and activate transcription. Also has potent growth arrest activity, probably through inhibition of cell cycle progression. Required for early embryonic development during gastrulation ["None"] ["None"] AL034555 7378713 ZBTB17 Chromosome:1 1p36.13 ZBTB17 HGNC:12936 true 2020-06-12T23:07:31Z 2020-07-28T02:32:05Z 0 1 0 4904 CDBP04903 Zinc fingers and homeoboxes protein 1 Q9UKY1 ZHX1_HUMAN false false Enzyme Homo_sapiens ZHX1 873 98096.8 5.91 Involved in sequence-specific DNA binding transcription factor activity Acts as a transcriptional repressor ["None"] ["None"] AF106862 5757884 ZHX1 Chromosome:8 8q24.13 ZHX1 HGNC:12871 true 2020-06-12T23:07:31Z 2020-07-28T02:34:26Z 0 1 1 4905 CDBP04904 Zinc finger protein with KRAB and SCAN domains 1 P17029 ZKSC1_HUMAN false false Enzyme Homo_sapiens ZKSCAN1 563 63629.5 7.05 Involved in nucleic acid binding May be involved in transcriptional regulation ["None"] ["None"] AK074116 18676580 ZKSCAN1 Chromosome:7 7q22 ZKSCAN1 HGNC:13101 true 2020-06-12T23:07:31Z 2020-07-28T02:34:26Z 0 1 1 4906 CDBP04905 Zinc finger Ran-binding domain-containing protein 2 O95218 ZRAB2_HUMAN false false Metal Binding Homo_sapiens ZRANB2 330 37404.0 10.67 Involved in zinc ion binding Splice factor required for alternative splicing of TRA2B/SFRS10 transcripts. May interfere with constitutive 5'- splice site selection ["None"] ["None"] 1N0Z NM_203350.2 42741684 ZRANB2 Chromosome:1 1p31 ZRANB2 HGNC:13058 true 2020-06-12T23:07:31Z 2020-07-28T02:32:05Z 0 1 0 4907 CDBP04906 Zinc finger Y-chromosomal protein P08048 ZFY_HUMAN false false Enzyme Homo_sapiens ZFY 801 90504.3 5.99 Involved in DNA binding Probable transcriptional activator ["None"] ["None"] AC006157 4314425 ZFY ZFY HGNC:12870 true 2020-06-12T23:07:31Z 2020-07-28T02:34:26Z 0 1 1 4908 CDBP04907 Protein lin-28 homolog A Q9H9Z2 LN28A_HUMAN false false Enzyme Homo_sapiens LIN28A 209 22742.8 8.16 Involved in nucleic acid binding Acts as a 'translational enhancer', driving specific mRNAs to polysomes and thus increasing the efficiency of protein synthesis. Its association with the translational machinery and target mRNAs results in an increased number of initiation events per molecule of mRNA and, indirectly, in stabilizing the mRNAs. Binds IGF2 mRNA, MYOD1 mRNA, ARBP/36B4 ribosomal protein mRNA and its own mRNA. Essential for skeletal muscle differentiation program through the translational up-regulation of IGF2 expression. Acts as a suppressor of microRNA (miRNA) biogenesis by specifically binding the precursor let-7 (pre-let- 7), a miRNA precursor. Acts by binding pre-let-7 and recruiting ZCCHC11/TUT4 uridylyltransferase, leading to the terminal uridylation of pre-let-7. Uridylated pre-let-7 miRNAs fail to be processed by Dicer and undergo degradation. Degradation of pre- let-7 in embryonic stem (ES) cells contributes to the maintenance of ES cells. In contrast, LIN28A down-regulation in neural stem cells by miR-125, allows the processing of pre-let-7. Specifically recognizes the 5'-GGAG-3' motif in the terminal loop of pre-let-7. Also recognizes and binds non pre-let-7 pre-miRNAs that contain the 5'-GGAG-3' motif in the terminal loop, leading to their terminal uridylation and subsequent degradation ["None"] ["None"] AF521099 21842304 LIN28A Chromosome:1 1p36.11 LIN28A HGNC:15986 true 2020-06-12T23:07:31Z 2020-07-28T02:34:26Z 0 1 1 4909 CDBP04908 Zinc finger protein PLAG1 Q6DJT9 PLAG1_HUMAN false false Metal Binding Homo_sapiens PLAG1 500 55909.0 8.7 Involved in zinc ion binding Transcription factor whose activation results in up- regulation of target genes, such as IGFII, leading to uncontrolled cell proliferation:when overexpressed in cultured cells, higher proliferation rate and transformation are observed. Other target genes such as CRLF1, CRABP2, CRIP2, PIGF are strongly induced in cells with PLAG1 induction. Proto-oncogene whose ectopic expression can trigger the development of pleomorphic adenomas of the salivary gland and lipoblastomas. Overexpression is associated with up-regulation of IGFII, is frequently observed in hepatoblastoma, common primary liver tumor in childhood. Cooperates with CBFB-MYH11, a fusion gene important for myeloid leukemia ["None"] ["None"] NM_001114634.1 167857796 PLAG1 Chromosome:8 8q12 PLAG1 HGNC:9045 true 2020-06-12T23:07:31Z 2020-07-28T02:32:05Z 0 1 0 4910 CDBP04909 Zinc finger protein 64 homolog, isoforms 1 and 2 Q9NPA5 ZF64A_HUMAN false false Metal Binding Homo_sapiens ZFP64 681 74643.0 8.47 Involved in zinc ion binding May be involved in transcriptional regulation ["None"] ["None"] AK001596 7022946 ZFP64 Chromosome:2 20q13.2 ZFP64 HGNC:15940 true 2020-06-12T23:07:31Z 2020-07-28T02:32:05Z 0 1 0 4911 CDBP04910 Zinc finger protein 346 Q9UL40 ZN346_HUMAN false false Metal Binding Homo_sapiens ZNF346 294 32932.4 9.48 Involved in zinc ion binding Binds to dsRNA and DNA ["None"] ["None"] AF083340 5813803 ZNF346 Chromosome:5 5q35.2 ZNF346 HGNC:16403 true 2020-06-12T23:07:31Z 2020-07-28T02:32:05Z 0 1 0 4912 CDBP04911 Zinc finger E-box-binding homeobox 1 P37275 ZEB1_HUMAN false false Enzyme Homo_sapiens ZEB1 1124 124072.6 4.59 Involved in sequence-specific DNA binding transcription factor activity Inhibits interleukin-2 (IL-2) gene expression. May be responsible for transcriptional repression of the IL-2 gene. Enhances or represses the promoter activity of the ATP1A1 gene depending on the quantity of cDNA and on the cell type ["None"] ["None"] AL117340 55957123 ZEB1 Chromosome:1 10p11.2 ZEB1 HGNC:11642 true 2020-06-12T23:07:31Z 2020-07-28T02:34:26Z 0 1 1 4913 CDBP04912 Ras-responsive element-binding protein 1 Q92766 RREB1_HUMAN false false Metal Binding Homo_sapiens RREB1 1687 181418.4 6.98 Involved in zinc ion binding Transcription factor that binds specifically to the RAS- responsive elements (RRE) of gene promoters. May be involved in Ras/Raf-mediated cell differentiation by enhancing calcitonin expression. Represses the angiotensinogen gene. Negatively regulates the transcriptional activity of AR. Potentiates the transcriptional activity of NEUROD1 ["None"] ["None"] NM_001003698.3 51173735 RREB1 Chromosome:6 6p25 RREB1 HGNC:10449 true 2020-06-12T23:07:31Z 2020-07-28T02:32:05Z 0 1 0 4914 CDBP04913 Zinc finger protein 43 P17038 ZNF43_HUMAN false false Enzyme Homo_sapiens ZNF43 809 94124.0 9.64 Involved in zinc ion binding May be involved in transcriptional regulation ["None"] ["None"] NM_003423.2 68303809 ZNF43 Chromosome:1 19p13.1-p12 ZNF43 HGNC:13109 true 2020-06-12T23:07:31Z 2020-07-28T02:34:26Z 0 1 1 4915 CDBP04914 Zinc finger transcription factor Trps1 Q9UHF7 TRPS1_HUMAN false false Enzyme Homo_sapiens TRPS1 1281 141519.8 7.61 Involved in zinc ion binding Transcriptional repressor. Binds specifically to GATA sequences and represses expression of GATA-regulated genes at selected sites and stages in vertebrate development ["None"] ["None"] AF183810 6684534 TRPS1 Chromosome:8 8q24.12 TRPS1 HGNC:12340 true 2020-06-12T23:07:31Z 2020-07-28T02:34:26Z 0 1 1 4916 CDBP04915 Zinc finger protein 75D P51815 ZN75D_HUMAN false false Enzyme Homo_sapiens ZNF75D 510 59297.5 9.72 Involved in nucleic acid binding May be involved in transcriptional regulation ["None"] ["None"] AK290215 158261453 ZNF75D ZNF75D HGNC:13145 true 2020-06-12T23:07:31Z 2020-07-28T02:34:26Z 0 1 1 4917 CDBP04916 Zinc transporter 5 Q8TAD4 ZNT5_HUMAN false true Transporter Homo_sapiens SLC30A5 765 8215.54 9.919 Involved in cation transmembrane transporter activity Functions as a zinc transporter. May be a transporter of zinc into beta cells in order to form insulin crystals. Partly regulates cellular zinc homeostasis. Required with ZNT7 for the activation of zinc-requiring enzymes, alkaline phosphatases (ALPs). Transports zinc into the lumens of the Golgi apparatus and vesicular compartments where ALPs locate, thus, converting apoALPs to holoALPs. Required with ZNT6 and ZNT7 for the activation of TNAP. NM_022902.2 20070323 SLC30A5 5 5q12.1 SLC30A5 HGNC:19089 true hsa:64924 NP_001238898.1:NM_001251969.1;NP_075053.2:NM_022902.4;NP_076960.1:NM_024055.4 Ubiquitously expressed. Highly expressed in pancreas, liver and kidney. Expressed abundantly in insulin-containing beta cells, undetectable in other endocrine cell types including glucagon-secreting alpha cells and most acinar cells. Heterooligomer. Interacts with ZNT6 2020-06-12T23:07:32Z 2020-07-28T02:32:14Z 0 0 0 4918 CDBP04917 Zinc finger protein ZIC 3 O60481 ZIC3_HUMAN false false Metal Binding Homo_sapiens ZIC3 467 50569.1 8.81 Involved in zinc ion binding Probably functions as a transcription factor in the earliest stages of the left-right (LR) body axis formation ["None"] ["None"] AF028706 2957266 ZIC3 ZIC3 HGNC:12874 true 2020-06-12T23:07:32Z 2020-07-28T02:32:05Z 0 1 0 4919 CDBP04918 Zinc finger protein 33B Q06732 ZN33B_HUMAN false false Enzyme Homo_sapiens ZNF33B 778 90682.6 8.3 Involved in nucleic acid binding May be involved in transcriptional regulation ["None"] ["None"] AJ491697 21665857 ZNF33B Chromosome:1 10q11.2 ZNF33B HGNC:13097 true 2020-06-12T23:07:32Z 2020-07-28T02:34:26Z 0 1 1 4920 CDBP04919 Zinc finger protein 828 Q96JM3 ZN828_HUMAN false false Metal Binding Homo_sapiens ZNF828 812 89098.2 8.63 Involved in zinc ion binding ["None"] ["None"] NM_001164144.1 255918139 ZNF828 Chromosome:1 13q34 ZNF828 HGNC:20311 true 2020-06-12T23:07:32Z 2020-07-28T02:32:05Z 0 1 0 4921 CDBP04920 Zinc finger protein 64 homolog, isoforms 3 and 4 Q9NTW7 ZF64B_HUMAN false false Metal Binding Homo_sapiens ZFP64 645 72216.3 8.48 Involved in zinc ion binding May be involved in transcriptional regulation ["None"] ["None"] NM_199427.2 162417982 ZFP64 Chromosome:2 20q13.2 ZFP64 HGNC:15940 true 2020-06-12T23:07:32Z 2020-07-28T02:32:05Z 0 1 0 4922 CDBP04921 Voltage-gated hydrogen channel 1 Q96D96 HVCN1_HUMAN false true Transporter Homo_sapiens HVCN1 273 31682.9 6.8 Involved in ion channel activity Mediates the voltage-dependent proton permeability of excitable membranes. Forms a proton-selective channel through which protons may pass in accordance with their electrochemical gradient. Proton efflux, accompanied by membrane depolarization, facilitates acute production of reactive oxygen species in phagocytosis ["None"] ["101-121", "136-156", "170-190", "198-218"] NM_001040107.1 91992153 HVCN1 Chromosome:1 12q24.11 HVCN1 HGNC:28240 true 2020-06-12T23:07:32Z 2020-07-28T02:32:14Z 0 0 0 4923 CDBP04922 Solute carrier family 22 member 15 Q8IZD6 S22AF_HUMAN false true Transporter Homo_sapiens SLC22A15 547 60539.5 5.29 Involved in transporter activity Probably transports organic cations. Appears not to be the agmatine transporter ["None"] ["22-42", "111-131", "141-161", "165-187", "201-221", "226-246", "303-323", "338-358", "368-388", "401-420", "433-453", "462-482"] NM_018420.2 166197673 SLC22A15 Chromosome:1 1p13.1 SLC22A15 HGNC:20301 true 2020-06-12T23:07:32Z 2020-07-28T02:32:14Z 0 0 0 4924 CDBP04923 Zinc finger protein 219 Q9P2Y4 ZN219_HUMAN false false Enzyme Homo_sapiens ZNF219 722 76876.5 9.75 Involved in histamine receptor activity May be involved in transcriptional regulation ["None"] ["None"] AB015427 6899807 ZNF219 Chromosome:1 14q11 ZNF219 HGNC:13011 true 2020-06-12T23:07:32Z 2020-07-28T02:34:26Z 1 1 0 4925 CDBP04924 DNA damage-binding protein 2 Q92466 DDB2_HUMAN false false Enzyme Homo_sapiens DDB2 427 47863.5 9.98 Involved in damaged DNA binding Required for DNA repair. Binds to DDB1 to form the UV- damaged DNA-binding protein complex (the UV-DDB complex). The UV- DDB complex may recognize UV-induced DNA damage and recruit proteins of the nucleotide excision repair pathway (the NER pathway) to initiate DNA repair. The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches. Also appears to function as the substrate recognition module for the DCX (DDB1- CUL4-X-box) E3 ubiquitin-protein ligase complex DDB1-CUL4-ROC1 (also known as CUL4-DDB-ROC1 and CUL4-DDB-RBX1). The DDB1-CUL4- ROC1 complex may ubiquitinate histone H2A, histone H3 and histone H4 at sites of UV-induced DNA damage. The ubiquitination of histones may facilitate their removal from the nucleosome and promote subsequent DNA repair. The DDB1-CUL4-ROC1 complex also ubiquitinates XPC, which may enhance DNA-binding by XPC and promote NER. Isoform D1 and isoform D2 inhibit UV-damaged DNA repair ["None"] ["None"] NM_000107.2 4557515 DDB2 Chromosome:1 11p12-p11 DDB2 HGNC:2718 true 2020-06-12T23:07:32Z 2020-07-28T02:34:26Z 0 0 0 4926 CDBP04925 DNA damage-binding protein 1 Q16531 DDB1_HUMAN false false Enzyme Homo_sapiens DDB1 1140 126966.9 4.92 Involved in nucleic acid binding Required for DNA repair. Binds to DDB2 to form the UV- damaged DNA-binding protein complex (the UV-DDB complex). The UV- DDB complex may recognize UV-induced DNA damage and recruit proteins of the nucleotide excision repair pathway (the NER pathway) to initiate DNA repair. The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches. Also appears to function as a component of numerous distinct DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. The functional specificity of the DCX E3 ubiquitin- protein ligase complex is determined by the variable substrate recognition component recruited by DDB1. DCX(DDB2) (also known as DDB1-CUL4-ROC1, CUL4-DDB-ROC1 and CUL4-DDB-RBX1) may ubiquitinate histone H2A, histone H3 and histone H4 at sites of UV-induced DNA damage. The ubiquitination of histones may facilitate their removal from the nucleosome and promote subsequent DNA repair. DCX(DDB2) also ubiquitinates XPC, which may enhance DNA-binding by XPC and promote NER. DCX(DTL) plays a role in PCNA-dependent polyubiquitination of CDT1 and MDM2-dependent ubiquitination of TP53 in response to radiation-induced DNA damage and during DNA replication. DCX(ERCC8) (the CSA complex) plays a role in transcription-coupled repair (TCR). May also play a role in ubiquitination of CDKN1B/p27kip when associated with CUL4 and SKP2 ["None"] ["None"] AJ002955 2632123 DDB1 Chromosome:1 11q12-q13 DDB1 HGNC:2717 true 2020-06-12T23:07:32Z 2020-07-28T02:34:26Z 0 0 0 4927 CDBP04926 Poly(U)-binding-splicing factor PUF60 Q9UHX1 PUF60_HUMAN false false Enzyme Homo_sapiens PUF60 559 59875.0 4.95 Involved in nucleotide binding DNA- and RNA-binding protein, involved in several nuclear processes such as pre-mRNA splicing, apoptosis and transcription regulation. In association with FUBP1 regulates MYC transcription at the P2 promoter through the core-TFIIH basal transcription factor. Acts as a transcriptional repressor through the core-TFIIH basal transcription factor. Represses FUBP1-induced transcriptional activation but not basal transcription. Decreases ERCC3 helicase activity. Does not repress TFIIH-mediated transcription in xeroderma pigmentosum complementation group B (XPB) cells. Is also involved in pre-mRNA splicing. Promotes splicing of an intron with weak 3'-splice site and pyrimidine tract in a cooperative manner with U2AF2. Involved in apoptosis induction when overexpressed in HeLa cells. Isoform 6 failed to repress MYC transcription and inhibited FIR-induced apoptosis in colorectal cancer. Isoform 6 may contribute to tumor progression by enabling increased MYC expression and greater resistance to apoptosis in tumors than in normal cells. Modulates alternative splicing of several mRNAs. Binds to relaxed DNA of active promoter regions. Binds to the pyrimidine tract and 3'-splice site regions of pre-mRNA; binding is enhanced in presence of U2AF2. Binds to Y5 RNA in association with TROVE2. Binds to poly(U) RNA ["None"] ["None"] AF114818 6684440 PUF60 Chromosome:8 8q24.3 PUF60 HGNC:17042 true 2020-06-12T23:07:32Z 2020-07-28T02:34:26Z 0 0 0 4928 CDBP04927 Pancreatic lipase-related protein 3 Q17RR3 LIPR3_HUMAN true false Enzyme Homo_sapiens PNLIPRP3 467 52253.41 8.264 Involved in catalytic activity NM_001011709.2 190341077 PNLIPRP3 10 10q25.3 PNLIPRP3 HGNC:23492 true hsa:119548 NP_001011709.2:NM_001011709.2 Overexpressed in hepatocellular carcinoma. 2020-06-12T23:07:32Z 2020-06-12T23:07:32Z 0 0 0 4929 CDBP04928 CDC42 binding protein kinase beta (DMPK-like) A9JR72 A9JR72_HUMAN true false Enzyme Homo_sapiens CDC42BPB 1711 194285.5 6.31 Involved in protein serine/threonine kinase activity ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] BC155541 161611364 CDC42BPB Chromosome:1 14q32.3 true 2020-06-12T23:07:32Z 2020-06-12T23:07:32Z 0 0 0 4930 CDBP04929 Kinase suppressor of Ras 2 Q6VAB6 KSR2_HUMAN true false Enzyme Homo_sapiens KSR2 950 107631.4 8.87 Involved in intracellular signaling pathway Location-regulated scaffold connecting MEK to RAF. Blocks MAP3K8 kinase activity and MAP3K8-mediated signaling. Acts as a negative regulator of MAP3K3-mediated activation of ERK, JNK and NF-kappa-B pathways, inhibiting MAP3K3-mediated interleukin-8 production ["None"] ["None"] 167621456 KSR2 Chromosome:1 12q24.22-q24.23 KSR2 HGNC:18610 true 2020-06-12T23:07:32Z 2020-06-12T23:07:32Z 0 0 0 4931 CDBP04930 Tensin-like C1 domain-containing phosphatase Q63HR2 TENC1_HUMAN true false Enzyme Homo_sapiens TENC1 1409 152579.0 8.42 Involved in intracellular signaling pathway Regulates cell motility and proliferation. May have phosphatase activity. Reduces AKT1 phosphorylation. Lowers AKT1 kinase activity and interferes with AKT1 signaling ["None"] ["None"] NM_170754.2 38787957 TENC1 Chromosome:1 12q13.13 TENC1 HGNC:19737 true 2020-06-12T23:07:32Z 2020-06-12T23:07:32Z 0 0 0 4932 CDBP04931 Protein kinase C, alpha variant Q59FI5 Q59FI5_HUMAN true false Enzyme Homo_sapiens 461 52975.9 7.12 Involved in intracellular signaling pathway ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] 1DSY AB209475 62088530 HGNC:9393 true 2020-06-12T23:07:32Z 2020-06-12T23:07:32Z 0 0 0 4933 CDBP04932 Kinase suppressor of Ras 1 Q8IVT5 KSR1_HUMAN true false Enzyme Homo_sapiens KSR1 921 102030.8 8.83 Involved in intracellular signaling pathway Location-regulated scaffolding protein connecting MEK to RAF. Promotes MEK and RAF phosphorylation and activity through assembly of an activated signaling complex. By itself, it has no demonstrated kinase activity ["None"] ["None"] 75677325 KSR1 Chromosome:1 17q11.1-q11.2 KSR1 HGNC:6465 true 2020-06-12T23:07:32Z 2020-06-12T23:07:32Z 0 0 0 4934 CDBP04933 Protein kinase C, gamma variant Q59EZ0 Q59EZ0_HUMAN true false Enzyme Homo_sapiens 239 26658.6 8.93 Involved in intracellular signaling pathway ["None"] ["None"] 1TBO AB209671 62088922 HGNC:9402 true 2020-06-12T23:07:32Z 2020-06-12T23:07:32Z 0 0 0 4935 CDBP04934 CDC42-binding protein kinase beta Q8IWQ7 Q8IWQ7_HUMAN true false Enzyme Homo_sapiens CDC42BPA 1638 186036.4 6.31 Involved in protein serine/threonine kinase activity ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] AY166586 27261723 CDC42BPA Chromosome:1 1q42.11 CDC42BPA HGNC:1737 true 2020-06-12T23:07:32Z 2020-06-12T23:07:32Z 0 0 0 4936 CDBP04935 Protein FAN Q92636 FAN_HUMAN true false Enzyme Homo_sapiens NSMAF 917 104371.5 6.18 Involved in receptor signaling protein activity Couples the p55 TNF-receptor (TNF-R55 / TNFR1) to neutral sphingomyelinase (N-SMASE). Specifically binds to the N- smase activation domain of TNF-R55. May regulate ceramide production by N-SMASE ["None"] ["None"] BC041124 26996553 NSMAF Chromosome:8 8q12-q13 NSMAF HGNC:8017 true 2020-06-12T23:07:32Z 2020-06-12T23:07:32Z 0 0 0 4937 CDBP04936 Ectonucleotide pyrophosphatase/phosphodiesterase family member 6 Q6UWR7 ENPP6_HUMAN true false Enzyme Homo_sapiens ENPP6 440 50240.625 7.981 Involved in catalytic activity Choline-specific glycerophosphodiester phosphodiesterase. The preferred substrate may be lysosphingomyelin (By similarity). Hydrolyzes lysophosphatidylcholine (LPC) to form monoacylglycerol and phosphorylcholine but not lysophosphatidic acid, showing it has a lysophospholipase C activity. Has a preference for LPC with short (12:0 and 14:0) or polyunsaturated (18:2 and 20:4) fatty acids. Also hydrolyzes glycerophosphorylcholine and sphingosylphosphorylcholine efficiently. Hydrolyzes the classical substrate for phospholipase C, p-nitrophenyl phosphorylcholine in vitro, while it does not hydrolyze the classical nucleotide phosphodiesterase substrate, p-nitrophenyl thymidine 5'-monophosphate. Does not hydrolyze diacyl phospholipids such as phosphatidylethanolamine, phosphatidylinositol, phosphatidylserine, phosphatidylglycerol and phosphatidic acid. AK057370 16553045 ENPP6 4 4q35.1 ENPP6 HGNC:23409 true hsa:133121 NP_699174.1:NM_153343.3 Predominantly expressed in kidney and brain. In the kidney, expressed specifically in the proximal tubules and thin descending limbs of Henle (at protein level). Divalent cations Homodimer; disulfide-linked 2020-06-12T23:07:32Z 2020-06-12T23:07:32Z 0 0 0 4938 CDBP04937 Neutral cholesterol ester hydrolase 1 Q6PIU2 NCEH1_HUMAN true false Enzyme Homo_sapiens NCEH1 408 45807.4 7.26 Involved in hydrolase activity Hydrolyzes 2-acetyl monoalkylglycerol ether, the penultimate precursor of the pathway for de novo synthesis of platelet-activating factor. May be responsible for cholesterol ester hydrolysis in macrophages, thereby contributing to the development of atherosclerosis. Also involved in organ detoxification by hydrolyzing exogenous organophosphorus compounds. May contribute to cancer pathogenesis by promoting tumor cell migration ["None"] ["5-25"] AK294811 221040514 NCEH1 Chromosome:3 3q26.31 NCEH1 HGNC:29260 true 2020-06-12T23:07:32Z 2020-06-12T23:07:32Z 0 0 0 4939 CDBP04938 Protein kinase C delta-binding protein Q969G5 PRDBP_HUMAN true false Enzyme Homo_sapiens PRKCDBP 261 27625.8 6.07 Seems to have an immune potentiation function ["None"] ["None"] NM_145040.2 47132587 PRKCDBP Chromosome:1 11p15.4 PRKCDBP HGNC:9400 true 2020-06-12T23:07:32Z 2020-06-12T23:07:32Z 0 0 0 4940 CDBP04939 Phospholipase DDHD2 O94830 DDHD2_HUMAN true false Enzyme Homo_sapiens DDHD2 711 81031.1 5.05 Involved in metal ion binding Phospholipase that hydrolyzes preferentially phosphatidic acid and phosphatidylethanolamine. May be involved in the maintenance of the endoplasmic reticulum and/or Golgi structures ["None"] ["None"] NM_001164232.1 256017247 DDHD2 Chromosome:8 8p11.23 DDHD2 HGNC:29106 true 2020-06-12T23:07:32Z 2020-07-28T02:30:32Z 0 1 0 4941 CDBP04940 PRKCA protein Q7Z727 Q7Z727_HUMAN false false Enzyme Homo_sapiens PRKCA 380 43185.1 9.76 Involved in intracellular signaling pathway ["None"] ["None"] 1DSY BC053321 31544941 PRKCA Chromosome:1 17q22-q23.2 true 2020-06-12T23:07:32Z 2020-07-28T02:34:27Z 0 0 0 4942 CDBP04941 SH3 and cysteine-rich domain-containing protein 3 Q96MF2 STAC3_HUMAN false false Enzyme Homo_sapiens STAC3 364 41506.8 6.94 Involved in intracellular signaling pathway ["None"] ["None"] AK057013 16552576 STAC3 Chromosome:1 12q13.3 STAC3 HGNC:28423 true 2020-06-12T23:07:32Z 2020-07-28T02:34:27Z 0 0 0 4943 CDBP04942 GEM-interacting protein Q9P107 GMIP_HUMAN false false Enzyme Homo_sapiens GMIP 970 106681.8 5.46 Involved in intracellular signaling pathway Stimulates, in vitro and in vivo, the GTPase activity of RhoA ["None"] ["None"] AF132541 7380947 GMIP Chromosome:1 19p13.11 GMIP HGNC:24852 true 2020-06-12T23:07:32Z 2020-07-28T02:34:27Z 0 0 0 4944 CDBP04943 Differentially expressed in FDCP 8 homolog Q6ZN54 DEFI8_HUMAN false false Metal Binding Homo_sapiens DEF8 512 58709.7 6.5 Involved in intracellular signaling pathway ["None"] ["None"] NM_207514.1 46447820 DEF8 Chromosome:1 16q24.3 DEF8 HGNC:25969 true 2020-06-12T23:07:32Z 2020-07-28T02:32:05Z 0 1 0 4945 CDBP04944 Rho GTPase-activating protein 29 Q52LW3 RHG29_HUMAN true false Enzyme Homo_sapiens ARHGAP29 1261 142062.2 6.72 Involved in intracellular signaling pathway GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Has strong activity toward RHOA, and weaker activity toward RAC1 and CDC42. May act as a specific effector of RAP2A to regulate Rho ["None"] ["None"] NM_004815.3 134304853 ARHGAP29 Chromosome:1 1p22.1 ARHGAP29 HGNC:30207 true 2020-06-12T23:07:32Z 2020-07-28T02:30:32Z 0 0 0 4946 CDBP04945 Pleckstrin homology domain-containing family M member 3 Q6ZWE6 PKHM3_HUMAN false false Enzyme Homo_sapiens PLEKHM3 761 87165.2 7.1 Involved in intracellular signaling pathway ["None"] ["None"] NM_001080475.2 122937347 PLEKHM3 Chromosome:2 2q33.3 PLEKHM3 HGNC:34006 true 2020-06-12T23:07:32Z 2020-07-28T02:34:27Z 0 0 0 4947 CDBP04946 Minor histocompatibility protein HA-1 Q92619 HMHA1_HUMAN false false Enzyme Homo_sapiens HMHA1 1136 124613.1 6.0 Involved in intracellular signaling pathway Precursor of the histocompatibility antigen HA-1. More generally, minor histocompatibility antigens (mHags) refer to immunogenic peptide which, when complexed with MHC, can generate an immune response after recognition by specific T-cells. The peptides are derived from polymorphic intracellular proteins, which are cleaved by normal pathways of antigen processing. The binding of these peptides to MHC class I or class II molecules and its expression on the cell surface can stimulate T-cell responses and thereby trigger graft rejection or graft-versus-host disease (GVHD) after hematopoietic stem cell transplantation from HLA- identical sibling donor. GVHD is a frequent complication after bone marrow transplantation (BMT), due to mismatch of minor histocompatibility antigen in HLA-matched sibling marrow transplants. Specifically, mismatching for mHag HA-1 which is recognized as immunodominant, is shown to be associated with the development of severe GVHD after HLA-identical BMT. HA-1 is presented to the cell surface by MHC class I HLA-A*0201, but also by other HLA-A alleles. This complex specifically elicits donor- cytotoxic T lymphocyte (CTL) reactivity against hematologic malignancies after treatment by HLA-identical allogenic BMT. It induces cell recognition and lysis by CTL ["None"] ["None"] NM_012292.2 47834348 HMHA1 Chromosome:1 19p13.3 HMHA1 HGNC:17102 true 2020-06-12T23:07:32Z 2020-07-28T02:34:27Z 0 0 0 4948 CDBP04947 Guanine nucleotide exchange factor VAV2 P52735 VAV2_HUMAN false false Enzyme Homo_sapiens VAV2 878 101288.2 7.08 Involved in Rho guanyl-nucleotide exchange factor activity Guanine nucleotide exchange factor for the Rho family of Ras-related GTPases. Plays an important role in angiogenesis. Its recruitement by phosphorylated EPHA2 is critical for EFNA1-induced RAC1 GTPase activation and vascular endothelial cell migration and assembly ["None"] ["None"] AL357934 55959224 VAV2 Chromosome:9 9q34.1 VAV2 HGNC:12658 true 2020-06-12T23:07:32Z 2020-07-28T02:34:27Z 0 0 0 4949 CDBP04948 UNC13B variant protein Q4LE73 Q4LE73_HUMAN false false Enzyme Homo_sapiens UNC13B variant protein 1620 183980.9 6.18 Involved in intracellular signaling pathway ["None"] ["None"] 1Y8F AB209998 68533051 UNC13B variant prote UNC13B+variant+prote HGNC:12566 true 2020-06-12T23:07:32Z 2020-07-28T02:34:27Z 0 0 0 4950 CDBP04949 Rho-guanine nucleotide exchange factor Q8N1W1 RGNEF_HUMAN false false Enzyme Homo_sapiens RGNEF 1705 191889.8 5.91 Involved in Rho guanyl-nucleotide exchange factor activity Functions as a RHOA-specific guanine nucleotide exchange factor regulating signaling pathways downstream of integrins and growth factor receptors. Functions in axonal branching, synapse formation and dendritic morphogenesis. Functions also in focal adhesion formation, cell motility and B-lymphocytes activation. May regulate NEFL expression and aggregation and play a role in apoptosis ["None"] ["None"] NM_001177693.1 295148070 RGNEF Chromosome:5 5q13.2 true 2020-06-12T23:07:32Z 2020-07-28T02:34:27Z 0 0 0 4951 CDBP04950 Pleckstrin homology domain-containing family M member 1 Q9Y4G2 PKHM1_HUMAN false false Enzyme Homo_sapiens PLEKHM1 1056 117442.0 6.5 Involved in intracellular signaling pathway Involved in vesicular transport in the osteoclast. May have a role in sialyl-lex-mediated transduction of apoptotic signals ["None"] ["None"] NM_014798.2 40538728 PLEKHM1 Chromosome:1 17q21.31 PLEKHM1 HGNC:29017 true 2020-06-12T23:07:32Z 2020-07-28T02:34:27Z 0 0 0 4952 CDBP04951 SH3 and cysteine-rich domain-containing protein 2 Q6ZMT1 STAC2_HUMAN false false Enzyme Homo_sapiens STAC2 411 45008.5 7.36 Involved in intracellular signaling pathway ["None"] ["None"] AJ608762 38520877 STAC2 Chromosome:1 17q12 STAC2 HGNC:23990 true 2020-06-12T23:07:32Z 2020-07-28T02:34:27Z 0 0 0 4953 CDBP04952 Beta-chimaerin P52757 CHIO_HUMAN false false Enzyme Homo_sapiens CHN2 468 53923.1 7.45 Involved in intracellular signaling pathway GTPase-activating protein for p21-rac. Insufficient expression of beta-2 chimaerin is expected to lead to higher Rac activity and could therefore play a role in the progression from low-grade to high-grade tumors ["None"] ["None"] 1XA6 NM_004067.2 4757980 CHN2 Chromosome:7 7p15.3 CHN2 HGNC:1944 true 2020-06-12T23:07:32Z 2020-07-28T02:34:27Z 0 0 0 4954 CDBP04953 Gamma-1-syntrophin Q9NSN8 SNTG1_HUMAN false false Enzyme Homo_sapiens SNTG1 517 57968.7 6.65 Involved in protein binding Adapter protein that binds to and probably organizes the subcellular localization of a variety of proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex. May participate in regulating the subcellular location of diacylglycerol kinase-zeta to ensure that diacylglycerol is rapidly inactivated following receptor activation ["None"] ["None"] NM_018967.2 9507163 SNTG1 Chromosome:8 8q11-q12 SNTG1 HGNC:13740 true 2020-06-12T23:07:32Z 2020-07-28T02:34:27Z 0 0 0 4955 CDBP04954 N-chimaerin P15882 CHIN_HUMAN false false Enzyme Homo_sapiens CHN1 459 53171.7 6.97 Involved in intracellular signaling pathway GTPase-activating protein for p21-rac and a phorbol ester receptor. May play an important role in neuronal signal- transduction mechanisms ["None"] ["None"] NM_001822.4 4502813 CHN1 Chromosome:2 2q31.1 CHN1 HGNC:1943 true 2020-06-12T23:07:32Z 2020-07-28T02:34:27Z 0 0 0 4956 CDBP04955 Unc-13 homolog B (C. elegans) B1AM27 B1AM27_HUMAN false false Enzyme Homo_sapiens UNC13B 1622 184345.3 5.88 Involved in intracellular signaling pathway ["None"] ["None"] 1Y8F AL160274 55661547 UNC13B Chromosome:9 9p13.3 UNC13B HGNC:12566 true 2020-06-12T23:07:32Z 2020-07-28T02:34:27Z 0 0 0 4957 CDBP04956 Myosin-IXa B2RTY4 MYO9A_HUMAN false false Enzyme Homo_sapiens MYO9A 2548 292703.0 9.22 Involved in motor activity Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Regulates Rho activity in neurons, has a role in the regulation of neuronal morphology and function ["None"] ["175-195"] NM_006901.2 156119615 MYO9A Chromosome:1 15q22-q23 MYO9A HGNC:7608 true 2020-06-12T23:07:32Z 2020-07-28T02:34:27Z 0 0 0 4958 CDBP04957 Ras association domain-containing protein 5 Q8WWW0 RASF5_HUMAN false false Enzyme Homo_sapiens RASSF5 418 47089.7 9.53 Involved in intracellular signaling pathway Potential tumor suppressor. Seems to be involved in lymphocyte adhesion by linking RAP1A activation upon T cell receptor or chemokine stimulation to integrin activation. Isoform 2 stimulates lymphocyte polarization and the patch-like distribution of ITGAL/LFA-1, resulting in an enhanced adhesion to ICAM1. Together with RAP1A may participate in regulation of microtubule growth. The association of isoform 2 with activated RAP1A is required for directional movement of endothelial cells during wound healing. May be involved in regulation of Ras apoptotic function. The RASSF5-STK4 complex may mediate HRAS1 and KRAS induced apoptosis ["None"] ["None"] NM_182663.2 32996731 RASSF5 Chromosome:1 1q32.1 RASSF5 HGNC:17609 true 2020-06-12T23:07:32Z 2020-07-28T02:34:27Z 0 0 0 4959 CDBP04958 UNC13B protein Q2NKJ5 Q2NKJ5_HUMAN false false Enzyme Homo_sapiens UNC13B 1610 182855.7 5.88 Involved in intracellular signaling pathway ["None"] ["None"] 1Y8F BC111781 84627497 UNC13B Chromosome:9 9p13.3 UNC13B HGNC:12566 true 2020-06-12T23:07:32Z 2020-07-28T02:34:27Z 0 0 0 4960 CDBP04959 Aging-associated gene 6 protein Q2TSD3 Q2TSD3_HUMAN false false Metal Binding Homo_sapiens 672 76761.4 7.05 Involved in protein serine/threonine kinase activity ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] AY633609 54303904 HGNC:9393 true 2020-06-12T23:07:32Z 2020-07-28T02:32:05Z 0 1 0 4961 CDBP04960 PDZ domain-containing protein 8 Q8NEN9 PDZD8_HUMAN false false Enzyme Homo_sapiens PDZD8 1154 128562.1 5.95 Involved in protein binding ["None"] ["None"] NM_173791.3 29789403 PDZD8 Chromosome:1 10q26.12 PDZD8 HGNC:26974 true 2020-06-12T23:07:32Z 2020-07-28T02:34:27Z 0 0 0 4962 CDBP04961 Proto-oncogene vav P15498 VAV_HUMAN false false Enzyme Homo_sapiens VAV1 845 98313.4 6.59 Involved in Rho guanyl-nucleotide exchange factor activity Couples tyrosine kinase signals with the activation of the Rho/Rac GTPases, thus leading to cell differentiation and/or proliferation ["None"] ["None"] AF030227 3282619 VAV1 Chromosome:1 19p13.2 VAV1 HGNC:12657 true 2020-06-12T23:07:32Z 2020-07-28T02:34:27Z 0 0 0 4963 CDBP04962 Putative pleckstrin homology domain-containing family M member 1P Q69YJ1 PKHMP_HUMAN false false Enzyme Homo_sapiens PLEKHM1P 520 58972.1 6.28 Involved in intracellular signaling pathway ["None"] ["None"] AL833315 50949528 PLEKHM1P Chromosome:1 17q24.1 PLEKHM1P HGNC:35411 true 2020-06-12T23:07:32Z 2020-07-28T02:34:27Z 0 0 0 4964 CDBP04963 SH3 and cysteine-rich domain-containing protein Q99469 STAC_HUMAN false false Enzyme Homo_sapiens STAC 402 44553.2 8.6 Involved in intracellular signaling pathway Probably involved in a neuron-specific signal transduction ["None"] ["None"] AK313493 189069243 STAC Chromosome:3 3p22.3 STAC HGNC:11353 true 2020-06-12T23:07:32Z 2020-07-28T02:34:27Z 0 0 0 4965 CDBP04964 Rac GTPase-activating protein 1 Q9H0H5 RGAP1_HUMAN true false Enzyme Homo_sapiens RACGAP1 632 71025.9 9.26 Involved in intracellular signaling pathway Essential for the early stages of embryogenesis and may play a role in the microtubule-dependent steps in cytokinesis. Plays key roles in controlling cell growth and differentiation of hematopoietic cells through mechanisms other than regulating Rac GTPase activity. Also involved in the regulation of growth-related processes in adipocytes and myoblasts. May be involved in regulating spermatogenesis and in the RACGAP1 pathway in neuronal proliferation. Shows strong GAP (GTPase activation) activity towards CDC42 and RAC1 and less towards RHOA. Required for initiation of cleavage furrow ingression by regulating ECT2 and for assembly of the contractile ring. May play a role in regulating cortical activity through RHOA during cytokinesis. May participate in the regulation of sulfate transport in male germ cells ["None"] ["None"] AB030251 6759255 RACGAP1 Chromosome:1 12q13.12 RACGAP1 HGNC:9804 true 2020-06-12T23:07:32Z 2020-07-28T02:30:33Z 0 0 0 4966 CDBP04965 Ras guanyl-releasing protein 3 Q8IV61 GRP3_HUMAN false false Metal Binding Homo_sapiens RASGRP3 690 78330.9 6.79 Involved in calcium ion binding Guanine nucleotide exchange factor (GEF) for Ras and Rap1 ["None"] ["None"] NM_001139488.1 213385270 RASGRP3 Chromosome:2 2p25.1-p24.1 RASGRP3 HGNC:14545 true 2020-06-12T23:07:32Z 2020-07-28T02:32:05Z 0 1 0 4967 CDBP04966 Oxysterol-binding protein-related protein 2 Q9H1P3 OSBL2_HUMAN false false Enzyme Homo_sapiens OSBPL2 480 55200.9 6.31 Involved in steroid metabolic process Binds phospholipids; exhibits strong binding to phosphatidic acid and weak binding to phosphatidylinositol 3- phosphate ["None"] ["None"] NM_144498.1 21450853 OSBPL2 Chromosome:2 20q13.3 OSBPL2 HGNC:15761 true 2020-06-12T23:07:32Z 2020-07-28T02:34:27Z 0 0 0 4968 CDBP04967 Oxysterol-binding protein-related protein 1 Q9BXW6 OSBL1_HUMAN false false Enzyme Homo_sapiens OSBPL1A 950 108469.0 6.33 Involved in steroid metabolic process Binds phospholipids; exhibits strong binding to phosphatidic acid and weak binding to phosphatidylinositol 3- phosphate ["None"] ["None"] NM_080597.2 19718741 OSBPL1A Chromosome:1 18q11.1 OSBPL1A HGNC:16398 true 2020-06-12T23:07:32Z 2020-07-28T02:34:27Z 0 0 0 4969 CDBP04968 Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 Q15057 ACAP2_HUMAN false false Metal Binding Homo_sapiens ACAP2 778 88027.9 6.78 Involved in ARF GTPase activator activity GTPase-activating protein (GAP) for ADP ribosylation factor 6 (ARF6) ["None"] ["None"] AJ238248 4688902 ACAP2 Chromosome:3 3q29 ACAP2 HGNC:16469 true 2020-06-12T23:07:32Z 2020-07-28T02:32:05Z 0 1 0 4970 CDBP04969 Ceramide synthase 5 Q8N5B7 LASS5_HUMAN true false Enzyme Homo_sapiens CERS5 392 Involved in sequence-specific DNA binding transcription factor activity May be either a bona fide (dihydro)ceramide synthase or a modulator of its activity. When overexpressed in cells is involved in the production of sphingolipids containing mainly one fatty acid donor (N-linked palmitoyl- (C16) ceramide) in a fumonisin B1-independent manner (By similarity). BC032565 21618502 LASS5 LASS5 HGNC:23749 true hsa:91012 NP_671723.1:NM_147190.2 2020-06-12T23:07:32Z 2020-07-28T02:30:33Z 0 0 1 4971 CDBP04970 ATP-binding cassette sub-family A member 7 Q8IZY2 ABCA7_HUMAN false false Enzyme Homo_sapiens ABCA7 2146 234347.2 7.24 Involved in ATP binding Plays a role in phagocytosis by macrophages of apoptotic cells. Binds APOA1 and may function in apolipoprotein-mediated phospholipid efflux from cells. May also mediate cholesterol efflux. May regulate cellular ceramide homeostasis during keratinocytes differentiation ["None"] ["22-42", "550-570", "593-613", "626-646", "655-675", "687-707", "727-747", "849-869", "1243-1263", "1538-1558", "1584-1604", "1621-1641", "1649-1669", "1683-1703", "1729-1749"] NM_019112.3 150417984 ABCA7 Chromosome:1 19p13.3 ABCA7 HGNC:37 true 2020-06-12T23:07:32Z 2020-07-28T02:34:27Z 0 0 0 4972 CDBP04971 High-affinity lysophosphatidic acid receptor homolog O43898 O43898_HUMAN false false Receptor Homo_sapiens 376 42455.9 9.33 Involved in G-protein coupled receptor protein signaling pathway ["None"] ["None"] U92642 2735351 HGNC:4503 true 2020-06-12T23:07:32Z 2020-07-28T02:30:33Z 1 0 0 4973 CDBP04972 LPAR1 protein Q6GPG7 Q6GPG7_HUMAN false false Receptor Homo_sapiens LPAR1 346 39264.8 8.6 Involved in G-protein coupled receptor protein signaling pathway ["None"] ["None"] AK299279 194387766 LPAR1 Chromosome:9 9q31.3 LPAR1 HGNC:3166 true 2020-06-12T23:07:32Z 2020-07-28T02:32:21Z 1 0 0 4974 CDBP04973 Sphingomyelin synthase-related protein 1 Q96LT4 SAMD8_HUMAN true false Enzyme Homo_sapiens SAMD8 415 48320.2 8.13 Involved in sphingomyelin biosynthetic process ["None"] ["153-173", "201-221", "232-252", "277-297", "322-342", "347-367"] NM_001174156.1 292658773 SAMD8 Chromosome:1 10q22.2 SAMD8 HGNC:26320 true 2020-06-12T23:07:32Z 2020-07-28T02:30:33Z 0 0 0 4975 CDBP04974 Perilipin-4 Q96Q06 PLIN4_HUMAN false false Enzyme Homo_sapiens PLIN4 1357 134431.0 9.11 Secondary metabolites biosynthesis, transport and catabolism May play a role in triacylglycerol packaging into adipocytes. May function as a coat protein involved in the biogenesis of lipid droplets ["None"] ["None"] NM_001080400.1 122937195 PLIN4 Chromosome:1 19p13.3 PLIN4 HGNC:29393 true 2020-06-12T23:07:32Z 2020-07-28T02:34:27Z 0 0 0 4976 CDBP04975 Apolipoprotein C-II P02655 APOC2_HUMAN false false Enzyme Homo_sapiens APOC2 101 11283.8 4.36 Involved in enzyme activator activity Component of the very low density lipoprotein (VLDL) fraction in plasma, and is an activator of several triacylglycerol lipases. The association of APOC2 with plasma chylomicrons, VLDL, and HDL is reversible, a function of the secretion and catabolism of triglyceride-rich lipoproteins, and changes rapidly ["1-22"] ["None"] 1SOH NM_000483.3 32130518 APOC2 Chromosome:1 19q13.2 APOC2 HGNC:609 true 2020-06-12T23:07:32Z 2020-07-28T02:34:27Z 0 0 0 4977 CDBP04976 Apolipoprotein A-V Q6Q788 APOA5_HUMAN false false Enzyme Homo_sapiens APOA5 366 41212.3 6.4 Involved in lipid binding Minor apolipoprotein mainly associated with HDL and to a lesser extent with VLDL. May also be associated with chylomicrons. Important determinant of plasma triglyceride (TG) levels by both being a potent stimulator of apo-CII lipoprotein lipase (LPL) TG hydrolysis and a inhibitor of the hepatic VLDL-TG production rate (without affecting the VLDL-apoB production rate). Activates poorly lecithin:cholesterol acyltransferase (LCAT) and does not enhance efflux of cholesterol from macrophages ["1-23"] ["None"] NM_001166598.1 262231737 APOA5 Chromosome:1 11q23 APOA5 HGNC:17288 true 2020-06-12T23:07:32Z 2020-07-28T02:34:27Z 0 0 0 4978 CDBP04977 Uteroglobin P11684 UTER_HUMAN false false Enzyme Homo_sapiens SCGB1A1 91 9993.6 4.71 Involved in binding Binds phosphatidylcholine, phosphatidylinositol, polychlorinated biphenyls (PCB) and weakly progesterone, potent inhibitor of phospholipase A2 ["1-21"] ["None"] AK312165 189053293 SCGB1A1 Chromosome:1 11q12.3-q13.1 SCGB1A1 HGNC:12523 true 2020-06-12T23:07:32Z 2020-07-28T02:34:27Z 0 0 0 4979 CDBP04978 Annexin A9 O76027 ANXA9_HUMAN false false Metal Binding Homo_sapiens ANXA9 345 38363.2 5.48 Involved in calcium ion binding Low affinity receptor for acetylcholine known to be targeted by disease-causing pemphigus vulgaris antibodies in keratinocytes ["None"] ["None"] AF230929 10436074 ANXA9 Chromosome:1 1q21 ANXA9 HGNC:547 true 2020-06-12T23:07:32Z 2020-07-28T02:32:05Z 0 1 0 4980 CDBP04979 Phosphatidylserine receptor transcript variant 2 B2WTI4 B2WTI4_HUMAN false false Receptor Homo_sapiens JMJD6 361 42002.4 9.9 Involved in receptor activity ["None"] ["None"] EF527407 156491005 JMJD6 Chromosome:1 17q25 JMJD6 HGNC:19355 true 2020-06-12T23:07:32Z 2020-07-28T02:30:34Z 1 0 0 4981 CDBP04980 Serine incorporator 5 Q86VE9 SERC5_HUMAN false false Enzyme Homo_sapiens SERINC5 423 47008.7 7.65 Involved in phosphatidylserine metabolic process Enhances the incorporation of serine into phosphatidylserine and sphingolipids. May play a role in providing serine molecules for the formation of myelin glycosphingolipids in oligodendrocytes ["None"] ["37-57", "90-110", "125-145", "157-177", "199-219", "231-251", "259-279", "312-332", "386-406"] AF498273 29893239 SERINC5 Chromosome:5 5q14.1 SERINC5 HGNC:18825 true 2020-06-12T23:07:32Z 2020-07-28T02:34:27Z 0 0 0 4982 CDBP04981 Adseverin Q9Y6U3 ADSV_HUMAN false false Enzyme Homo_sapiens SCIN 715 80488.3 5.41 Involved in actin binding Ca(2+)-dependent actin filament-severing protein that is presumed to have a regulatory function in exocytosis by affecting the organization of the microfilament network underneath the plasma membrane. In vitro, also has barbed end capping and nucleating activities in the presence of Ca(2+) ["None"] ["None"] NM_001112706.2 162951877 SCIN Chromosome:7 7p21.3 SCIN HGNC:21695 true 2020-06-12T23:07:32Z 2020-07-28T02:34:27Z 0 0 0 4983 CDBP04982 Serine incorporator 4 A6NH21 SERC4_HUMAN false false Enzyme Homo_sapiens SERINC4 518 56869.4 8.39 Involved in phospholipid biosynthetic process Incorporates a polar amino acid serine into membranes and facilitates the synthesis of two serine-derived lipids, phosphatidylserine and sphingolipids ["None"] ["59-79", "122-142", "153-173", "184-204", "222-242", "259-279", "286-306", "338-357", "427-447", "470-490"] 75677608 SERINC4 Chromosome:1 15q15.3 SERINC4 HGNC:32237 true 2020-06-12T23:07:32Z 2020-07-28T02:34:27Z 0 0 0 4984 CDBP04983 Phosphatidylserine receptor transcript variant 1 B2WTI3 B2WTI3_HUMAN false false Receptor Homo_sapiens JMJD6 335 39241.2 10.0 Involved in receptor activity ["None"] ["None"] EF527406 156491003 JMJD6 Chromosome:1 17q25 JMJD6 HGNC:19355 true 2020-06-12T23:07:32Z 2020-07-28T02:30:34Z 1 0 0 4985 CDBP04984 Peroxisomal D3,D2-enoyl-CoA isomerase isoform 1 variant Q53GC8 Q53GC8_HUMAN true false Enzyme Homo_sapiens 364 40210.7 9.12 Involved in acyl-CoA binding ["None"] ["None"] AK223003 62897567 HGNC:14601 true 2020-06-12T23:07:32Z 2020-07-28T02:30:34Z 0 0 0 4986 CDBP04985 Nef-associated protein 1 Q9BU70 NAP1_HUMAN true false Enzyme Homo_sapiens C9orf156 441 48586.5 7.18 Involved in hydrolase activity Hydrolyzes acyl-CoA thioesters (in vitro). Has a preference for substrates with medium chain length (C10-C14). Inactive towards substrates with C18 or C20 aliphatic chains. Its physiological function is not known ["None"] ["None"] AK000213 7020150 C9orf156 Chromosome:9 9q22.33 C9orf156 HGNC:30967 true 2020-06-12T23:07:32Z 2020-06-12T23:07:32Z 0 0 0 4987 CDBP04986 Acyl-coenzyme A thioesterase 9, mitochondrial Q9Y305 ACOT9_HUMAN true false Enzyme Homo_sapiens ACOT9 439 49901.3 8.82 Lipid transport and metabolism Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Active on long chain acyl-CoAs ["None"] ["None"] NM_001033583.2 81295404 ACOT9 ACOT9 HGNC:17152 true 2020-06-12T23:07:32Z 2020-06-12T23:07:32Z 0 0 0 4988 CDBP04987 Acyl-CoA synthetase family member 3, mitochondrial Q4G176 ACSF3_HUMAN true false Enzyme Homo_sapiens ACSF3 576 64129.6 8.47 Involved in catalytic activity Acyl-CoA synthases catalyze the initial reaction in fatty acid metabolism, by forming a thioester with CoA. May have some preference toward very-long-chain substrates ["None"] ["None"] NM_001127214.1 187761345 ACSF3 Chromosome:1 16q24.3 ACSF3 HGNC:27288 true 2020-06-12T23:07:32Z 2020-06-12T23:07:32Z 0 0 0 4989 CDBP04988 Acyl-coenzyme A thioesterase 1 Q86TX2 ACOT1_HUMAN true false Enzyme Homo_sapiens ACOT1 421 46276.96 7.339 Involved in thiolester hydrolase activity Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Active towards fatty acyl-CoA with chain-lengths of C12-C16 (By similarity). BC127748 121934111 ACOT1 14 14q24.3 ACOT1 HGNC:33128 true hsa:641371 MONOMER-14105 NP_001032238.1:NM_001037161.1 Monomer 2020-06-12T23:07:32Z 2020-06-12T23:07:32Z 0 0 0 4990 CDBP04989 Cytosolic acyl coenzyme A thioester hydrolase-like Q6ZUV0 BACHL_HUMAN true false Enzyme Homo_sapiens ACOT7L 252 Lipid transport and metabolism Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH (By similarity). AK125299 34531349 ACOT7L true Expressed in all tissues examined. Up-regulated in nasopharyngeal carcinoma (at protein level). Homodimer (Probable) 2020-06-12T23:07:32Z 2020-06-12T23:07:32Z 0 0 0 4991 CDBP04990 Acyl-CoA synthetase family member 2, mitochondrial Q96CM8 ACSF2_HUMAN true false Enzyme Homo_sapiens ACSF2 615 68124.4 7.6 Involved in catalytic activity Acyl-CoA synthases catalyze the initial reaction in fatty acid metabolism, by forming a thioester with CoA. Has some preference toward medium-chain substrates. Plays a role in adipodyte differentiation ["None"] ["None"] AK024573 10436885 ACSF2 Chromosome:1 17q21.33 ACSF2 HGNC:26101 true 2020-06-12T23:07:32Z 2020-06-12T23:07:32Z 0 0 0 4992 CDBP04991 Acyl-coenzyme A thioesterase 11 Q8WXI4 ACO11_HUMAN true false Enzyme Homo_sapiens ACOT11 607 68491.6 8.43 Lipid transport and metabolism Has acyl-CoA thioesterase activity towards medium (C12) and long-chain (C18) fatty acyl-CoA substrates ["None"] ["None"] NM_015547.3 22165355 ACOT11 Chromosome:1 1p32.3 ACOT11 HGNC:18156 true 2020-06-12T23:07:32Z 2020-06-12T23:07:32Z 0 0 0 4993 CDBP04992 Long-chain-fatty-acid--CoA ligase ACSBG2 Q5FVE4 ACBG2_HUMAN true false Enzyme Homo_sapiens ACSBG2 666 74353.835 8.461 Involved in catalytic activity Mediates activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Able to activate long-chain fatty acids. Also able to activate very long-chain fatty acids; however, the relevance of such activity is unclear in vivo. Has increased ability to activate oleic and linoleic acid. May play a role in spermatogenesis. AJ577571 32968194 ACSBG2 19 19p13.3 ACSBG2 HGNC:24174 true hsa:81616 NP_112186.3:NM_030924.3 Testis-specific. 2020-06-12T23:07:33Z 2020-06-12T23:07:33Z 0 0 0 4994 CDBP04993 Long-chain-fatty-acid--CoA ligase ACSBG1 Q96GR2 ACBG1_HUMAN true false Enzyme Homo_sapiens ACSBG1 724 80878.065 5.92 Involved in catalytic activity Mediates activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Able to activate long-chain fatty acids. Also able to activate very long-chain fatty acids; however, the relevance of such activity is unclear in vivo. Can activate diverse saturated, monosaturated and polyunsaturated fatty acids. AF179481 ACSBG1 15 15q23-q24 ACSBG1 HGNC:29567 true hsa:23205 NP_001186306.1:NM_001199377.1;NP_055977.3:NM_015162.4 Expressed primarily in brain. Expressed at lower level in testis and adrenal gland. Present in all regions of brain except pituitary. 2020-06-12T23:07:33Z 2020-06-12T23:07:33Z 0 0 0 4995 CDBP04994 Acid phosphatase-like protein 2 Q8TE99 ACPL2_HUMAN true false Enzyme Homo_sapiens ACPL2 480 55239.395 8.987 Involved in acid phosphatase activity AK074331 18676906 ACPL2 3 3q23 ACPL2 HGNC:26303 true hsa:92370 NP_001032249.1:NM_001037172.1;NP_689495.1:NM_152282.3 2020-06-12T23:07:33Z 2020-06-12T23:07:33Z 0 0 0 4996 CDBP04995 Synaptic vesicle membrane protein VAT-1 homolog-like Q9HCJ6 VAT1L_HUMAN true false Enzyme Homo_sapiens VAT1L 419 45899.2 4.7 Involved in zinc ion binding ["None"] ["None"] NM_020927.1 24308257 VAT1L Chromosome:1 16q23.1 VAT1L HGNC:29315 true 2020-06-12T23:07:33Z 2020-07-28T02:30:34Z 0 1 0 4997 CDBP04996 Quinone oxidoreductase PIG3 Q53FA7 QORX_HUMAN true false Enzyme Homo_sapiens TP53I3 332 35535.9 7.2 Involved in zinc ion binding May be involved in the generation of reactive oxygen species (ROS). Has low NADPH-dependent naphtoquinone reductase activity, with a preference for 1,2-naphtoquinone over 1,4- naphtoquinone. Has low NADPH-dependent diamine reductase activity (in vitro) ["None"] ["None"] AC008073 62822096 TP53I3 Chromosome:2 2p23.3 TP53I3 HGNC:19373 true 2020-06-12T23:07:33Z 2020-07-28T02:30:34Z 0 1 0 4998 CDBP04997 Synaptic vesicle membrane protein VAT-1 homolog Q99536 VAT1_HUMAN true false Enzyme Homo_sapiens VAT1 393 41920.0 6.25 Involved in zinc ion binding Possesses ATPase activity. Plays a part in calcium-regulated keratinocyte activation in epidermal repair mechanisms. Has no effect on cell proliferation ["None"] ["None"] AK290460 158261943 VAT1 Chromosome:1 17q21 VAT1 HGNC:16919 true 2020-06-12T23:07:33Z 2020-07-28T02:30:34Z 0 1 0 4999 CDBP04998 Carnitine palmitoyltransferase 1B isoform a variant Q53FV7 Q53FV7_HUMAN true false Enzyme Homo_sapiens 772 87785.4 8.85 Involved in acyltransferase activity ["None"] ["None"] AK223174 62897909 HGNC:2329 true 2020-06-12T23:07:33Z 2020-06-12T23:07:33Z 0 0 0 5000 CDBP04999 Carboxylesterase 3 Q6UWW8 EST3_HUMAN true false Enzyme Homo_sapiens CES3 571 24106.105 5.269 Lipid transport and metabolism Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs. Shows low catalytic efficiency for hydrolysis of CPT-11 (7-ethyl-10-[4-(1-piperidino)-1-piperidino]-carbonyloxycamptothecin), a prodrug for camptothecin used in cancer therapeutics. AY358609 37182340 CES3 16 16q22.1 CES3 HGNC:1865 true hsa:23491 HS10576-MONOMER NP_001172105.1:NM_001185176.1;NP_001172106.1:NM_001185177.1;NP_079198.2:NM_024922.5 Expressed in liver, colon and small intestine. 2020-06-12T23:07:33Z 2020-06-12T23:07:33Z 0 0 0 5001 CDBP05000 GPI-anchor transamidase Q92643 GPI8_HUMAN true false Enzyme Homo_sapiens PIGK 395 45251.4 6.09 Involved in cysteine-type endopeptidase activity Mediates GPI anchoring in the endoplasmic reticulum, by replacing a protein's C-terminal GPI attachment signal peptide with a pre-assembled GPI. During this transamidation reaction, the GPI transamidase forms a carbonyl intermediate with the substrate protein ["1-27"] ["368-388"] AF022913 2558891 PIGK Chromosome:1 1p31.1 PIGK HGNC:8965 true 2020-06-12T23:07:33Z 2020-06-12T23:07:33Z 0 0 0 5002 CDBP05001 Protein RCC2 Q9P258 RCC2_HUMAN true false Enzyme Homo_sapiens RCC2 522 56084.1 9.0 Involved in cell division Required for completion of mitosis and cytokinesis. May function as a guanine nucleotide exchange factor for the small GTPase RAC1 ["None"] ["None"] NM_001136204.1 209969703 RCC2 Chromosome:1 1p36.13 RCC2 HGNC:30297 true 2020-06-12T23:07:33Z 2020-06-12T23:07:33Z 0 0 0 5003 CDBP05002 Protein very KIND Q76NI1 VKIND_HUMAN true false Enzyme Homo_sapiens KNDC1 1749 191394.3 6.07 Involved in guanyl-nucleotide exchange factor activity Probable guanine nucleotide exchange factor (GEF) ["None"] ["None"] NM_152643.6 116268127 KNDC1 Chromosome:1 10q26.3 KNDC1 HGNC:29374 true 2020-06-12T23:07:33Z 2020-06-12T23:07:33Z 0 0 0 5004 CDBP05003 Nucleoside diphosphate kinase A2IDD0 A2IDD0_HUMAN true false Enzyme Homo_sapiens NME4 117 12978.5 6.8 Involved in nucleoside diphosphate kinase activity ATP + nucleoside diphosphate = ADP + nucleoside triphosphate ["None"] ["None"] 1EHW Z97634 123243692 NME4 Chromosome:1 16p13.3 NME4 HGNC:7852 true 2020-06-12T23:07:33Z 2020-06-12T23:07:33Z 0 0 0 5005 CDBP05004 Golgi resident protein GCP60 Q9H3P7 GCP60_HUMAN false false Enzyme Homo_sapiens ACBD3 528 60593.0 4.73 Involved in acyl-CoA binding Involved in the maintenance of Golgi structure by interacting with giantin, affecting protein transport between the endoplasmic reticulum and Golgi. Involved in hormone-induced steroid biosynthesis in testicular Leydig cells ["None"] ["None"] AB043587 15799259 ACBD3 Chromosome:1 1q42.12 ACBD3 HGNC:15453 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5006 CDBP05005 Acyl-CoA-binding domain-containing protein 4 Q8NC06 ACBD4_HUMAN false false Enzyme Homo_sapiens ACBD4 268 30307.3 7.16 Involved in acyl-CoA binding ["None"] ["None"] NM_001135707.1 209364600 ACBD4 Chromosome:1 17q21.31 ACBD4 HGNC:23337 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5007 CDBP05006 Acyl-CoA-binding domain-containing protein 5 Q5T8D3 ACBD5_HUMAN false false Enzyme Homo_sapiens ACBD5 534 60091.5 4.98 Involved in acyl-CoA binding ["None"] ["506-526"] AL160291 55958295 ACBD5 Chromosome:1 10p12.1 ACBD5 HGNC:23338 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5008 CDBP05007 ACAD11 protein Q08AE9 Q08AE9_HUMAN false false Enzyme Homo_sapiens ACAD11 305 33775.9 9.43 Involved in oxidoreductase activity, acting on the CH-CH group of donors ["None"] ["None"] BC125205 115528754 ACAD11 Chromosome:3 3q22.1 ACAD11 HGNC:30211 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5009 CDBP05008 Putative uncharacterized protein HADHA Q53T69 Q53T69_HUMAN false false Enzyme Homo_sapiens HADHA 537 58786.9 9.12 Involved in oxidoreductase activity ["None"] ["None"] AC011742 62702215 HADHA Chromosome:2 2p23 HADHA HGNC:4801 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5010 CDBP05009 KIAA1996 protein Q8NCM9 Q8NCM9_HUMAN false false Enzyme Homo_sapiens KIAA1996 437 48560.1 4.53 Involved in acyl-CoA binding ["None"] ["None"] AB082527 21693138 KIAA1996 KIAA1996 HGNC:23338 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5011 CDBP05010 Benzodiazepine receptor ligand Q71U42 Q71U42_HUMAN false false Receptor Homo_sapiens BRL 87 10000.4 9.43 Involved in acyl-CoA binding ["None"] ["None"] AF139542 33150786 BRL true 2020-06-12T23:07:33Z 2020-07-28T02:30:35Z 1 0 0 5012 CDBP05011 Acyl-CoA-binding domain-containing protein 6 Q9BR61 ACBD6_HUMAN false false Enzyme Homo_sapiens ACBD6 282 31150.6 4.76 Involved in acyl-CoA binding Binds long-chain acyl-coenzyme A molecules with a strong preference for unsaturated C18:1-CoA, lower affinity for unsaturated C20:4-CoA, and very weak affinity for saturated C16:0- CoA. Does not bind fatty acids ["None"] ["None"] AL139141 56204928 ACBD6 Chromosome:1 1q25.1 ACBD6 HGNC:23339 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5013 CDBP05012 PECI protein Q6IBN4 Q6IBN4_HUMAN false false Enzyme Homo_sapiens PECI 364 40192.8 9.11 Involved in acyl-CoA binding ["None"] ["None"] CR456768 48145653 PECI Chromosome:6 6p24.3 PECI HGNC:14601 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5014 CDBP05013 Acyl-Coenzyme A binding domain containing 5 Q5T8E0 Q5T8E0_HUMAN false false Enzyme Homo_sapiens ACBD5 294 32973.9 4.81 Involved in acyl-CoA binding ["None"] ["None"] AL160291 55958299 ACBD5 Chromosome:1 10p12.1 ACBD5 HGNC:23338 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5015 CDBP05014 Acyl-CoA-binding domain-containing protein 7 Q8N6N7 ACBD7_HUMAN false false Enzyme Homo_sapiens ACBD7 88 9790.2 6.73 Involved in acyl-CoA binding ["None"] ["None"] AK095538 193787877 ACBD7 Chromosome:1 10p13 ACBD7 HGNC:17715 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5016 CDBP05015 Fatty acid-binding protein, intestinal P12104 FABPI_HUMAN false true Transporter Homo_sapiens FABP2 132 15207.2 7.52 Involved in binding FABP are thought to play a role in the intracellular transport of long-chain fatty acids and their acyl-CoA esters. FABP2 is probably involved in triglyceride-rich lipoprotein synthesis. Binds saturated long-chain fatty acids with a high affinity, but binds with a lower affinity to unsaturated long- chain fatty acids. FABP2 may also help maintain energy homeostasis by functioning as a lipid sensor ["None"] ["None"] 3IFB BC069466 46854681 FABP2 Chromosome:4 4q28-q31 FABP2 HGNC:3556 true 2020-06-12T23:07:33Z 2020-07-28T02:32:15Z 0 0 0 5017 CDBP05016 Reticulon-4-interacting protein 1, mitochondrial Q8WWV3 RT4I1_HUMAN false false Metal Binding Homo_sapiens RTN4IP1 396 43589.4 9.58 Involved in zinc ion binding Appears to be a potent inhibitor of regeneration following spinal cord injury ["None"] ["None"] NM_032730.4 47519420 RTN4IP1 Chromosome:6 6q21 RTN4IP1 HGNC:18647 true 2020-06-12T23:07:33Z 2020-07-28T02:32:05Z 0 1 0 5018 CDBP05017 CREB3L2-PPARgamma Q86WD1 Q86WD1_HUMAN false false Enzyme Homo_sapiens 584 66632.5 5.16 Involved in DNA binding ["None"] ["None"] 1I7I AY222643 29169314 HGNC:9236 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 1 1 1 5019 CDBP05018 ADFP protein Q6FHZ7 Q6FHZ7_HUMAN false false Enzyme Homo_sapiens ADFP 437 48075.1 6.8 ["None"] ["None"] AK312983 189066570 ADFP ADFP HGNC:248 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5020 CDBP05019 Peroxisome proliferator activated-receptor gamma Q9UEF6 Q9UEF6_HUMAN false false Receptor Homo_sapiens ppar gamma2 27 2827.9 3.12 Involved in receptor activity ["None"] ["None"] AB005520 2605489 ppar gamma2 ppar+gamma2 HGNC:9236 true 2020-06-12T23:07:33Z 2020-07-28T02:30:35Z 1 0 0 5021 CDBP05020 Peroxisome proliferative activated receptor gamma isoform 2 variant Q53EW1 Q53EW1_HUMAN false false Receptor Homo_sapiens 478 54777.6 6.51 Involved in DNA binding ["None"] ["None"] 1I7I AK223528 62898788 HGNC:9236 true 2020-06-12T23:07:33Z 2020-07-28T02:30:35Z 1 1 1 5022 CDBP05021 CPT1B protein A2RRE8 A2RRE8_HUMAN false false Enzyme Homo_sapiens CPT1B 567 64474.2 8.2 Involved in acyltransferase activity ["None"] ["None"] BC131570 124297731 CPT1B Chromosome:2 22q13.33 CPT1B HGNC:2329 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5023 CDBP05022 Peroxisome proliferator-activated receptor Q6L9M1 Q6L9M1_HUMAN false false Receptor Homo_sapiens PPARG 41 4695.2 3.91 Involved in DNA binding ["None"] ["None"] AB097931 47678891 PPARG Chromosome:3 3p25 PPARG HGNC:9236 true 2020-06-12T23:07:33Z 2020-07-28T02:30:35Z 1 0 1 5024 CDBP05023 Polyamine-modulated factor 1 Q6P1K2 PMF1_HUMAN false false Enzyme Homo_sapiens PMF1 205 23339.2 5.18 Involved in leucine zipper domain binding Part of the MIS12 complex which is required for normal chromosome alignment and segregation and kinetochore formation during mitosis. May act as a cotranscription partner of NFE2L2 involved in regulation of polyamine-induced transcription of SSAT ["None"] ["None"] NM_007221.2 88900509 PMF1 Chromosome:1 1q12 PMF1 HGNC:9112 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5025 CDBP05024 Lambda-crystallin homolog Q9Y2S2 CRYL1_HUMAN false false Enzyme Homo_sapiens CRYL1 319 35418.91 6.175 Involved in 3-hydroxyacyl-CoA dehydrogenase activity 3F3S NM_015974.2 115430219 CRYL1 13 13q12.11 CRYL1 HGNC:18246 true hsa:51084 NP_057058.2:NM_015974.2 Widely expressed, with highest levels in liver and kidney. Homodimer 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5026 CDBP05025 Elongation of very long chain fatty acids protein 2 Q9NXB9 ELOV2_HUMAN false false Enzyme Homo_sapiens ELOVL2 296 34584.435 9.255 Involved in fatty acid biosynthetic process Condensing enzyme that catalyzes the synthesis of polyunsaturated very long chain fatty acid (C20- and C22-PUFA). Acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C20:4(n-6) acyl-CoA. AK000341 7020361 ELOVL2 6 6p24.2 ELOVL2 HGNC:14416 true hsa:54898 ENSG00000096256-MONOMER NP_060240.3:NM_017770.3 Liver and testis. 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5027 CDBP05026 Elongation of very long chain fatty acids protein 1 Q9BW60 ELOV1_HUMAN false false Enzyme Homo_sapiens ELOVL1 279 32662.49 9.602 Involved in protein binding Condensing enzyme that catalyzes the synthesis of both saturated and monounsaturated very long chain fatty acids. Exhibits activity toward saturated C18 to C26 acyl-CoA substrates, with the highest activity towards C22:0 acyl-CoA. Important for saturated C24:0 and monounsaturated C24:1 sphingolipid synthesis. NM_022821.2 13489093 ELOVL1 1 1p34.2 ELOVL1 HGNC:14418 true hsa:64834 NP_001243328.1:NM_001256399.1;NP_001243331.1:NM_001256402.1;NP_073732.1:NM_022821.3 Ubiquitous. Interacts with LASS2, TECR and HSD17B12 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5028 CDBP05027 Glycosylphosphatidylinositol anchor attachment 1 protein O43292 GPAA1_HUMAN false false Enzyme Homo_sapiens GPAA1 621 67622.5 8.16 Involved in tubulin binding Essential for GPI-anchoring of precursor proteins but not for GPI synthesis. Acts before or during formation of the carbonyl intermediate ["None"] ["25-45", "369-389", "428-448", "459-479", "496-516", "544-564", "600-620"] AB002135 5572751 GPAA1 Chromosome:8 8q24.3 GPAA1 HGNC:4446 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5029 CDBP05028 Protein PLEKHA9 O95397 PKHA9_HUMAN false true Transporter Homo_sapiens PLEKHA9 391 43538.3 4.76 Involved in glycolipid transporter activity ["None"] ["None"] AF103731 4050073 PLEKHA9 Chromosome:1 12q PLEKHA9 HGNC:30222 true 2020-06-12T23:07:33Z 2020-07-28T02:32:15Z 0 0 0 5030 CDBP05029 Glycolipid transfer protein domain-containing protein 2 A6NH11 GLTD2_HUMAN false true Transporter Homo_sapiens GLTPD2 291 31641.2 10.54 Involved in glycolipid transporter activity ["None"] ["None"] NM_001014985.2 304571945 GLTPD2 Chromosome:1 17p13.2 GLTPD2 HGNC:33756 true 2020-06-12T23:07:33Z 2020-07-28T02:32:15Z 0 0 0 5031 CDBP05030 Putative uncharacterized protein PLEKHA8 B5MDU3 B5MDU3_HUMAN false true Transporter Homo_sapiens PLEKHA8 439 49308.8 4.67 Involved in glycolipid transporter activity ["None"] ["None"] NM_032639 14249174 PLEKHA8 Chromosome:7 7p21-p11.2 PLEKHA8 HGNC:30037 true 2020-06-12T23:07:33Z 2020-07-28T02:32:15Z 0 0 0 5032 CDBP05031 T-cell surface glycoprotein CD1a P06126 CD1A_HUMAN false false Enzyme Homo_sapiens CD1A 327 37077.1 6.79 Involved in immune response Antigen-presenting protein that binds self and non-self lipid and glycolipid antigens and presents them to T-cell receptors on natural killer T-cells ["1-16"] ["301-321"] 1ONQ M28825 180036 CD1A Chromosome:1 1q22-q23 CD1A HGNC:1634 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5033 CDBP05032 Glycolipid transfer protein domain-containing protein 1 Q5TA50 GLTD1_HUMAN false true Transporter Homo_sapiens GLTPD1 214 24364.8 7.23 Involved in glycolipid transporter activity ["None"] ["None"] AL139287 56204961 GLTPD1 Chromosome:1 1p36.33 GLTPD1 HGNC:28116 true 2020-06-12T23:07:33Z 2020-07-28T02:32:15Z 0 0 0 5034 CDBP05033 T-cell surface glycoprotein CD1c P29017 CD1C_HUMAN false false Enzyme Homo_sapiens CD1C 333 37653.7 6.09 Involved in immune response Antigen-presenting protein that binds self and non-self lipid and glycolipid antigens and presents them to T-cell receptors on natural killer T-cells ["1-17"] ["303-323"] NM_001765.2 110618227 CD1C Chromosome:1 1q22-q23 CD1C HGNC:1636 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5035 CDBP05034 Lipopolysaccharide-binding protein P18428 LBP_HUMAN false false Enzyme Homo_sapiens LBP 481 53383.0 6.68 Involved in lipid binding Binds to the lipid A moiety of bacterial lipopolysaccharides (LPS), a glycolipid present in the outer membrane of all Gram-negative bacteria. The LBP/LPS complex seems to interact with the CD14 receptor ["1-25"] ["None"] AF013512 2653817 LBP Chromosome:2 20q11.23 LBP HGNC:6517 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5036 CDBP05035 Putative uncharacterized protein DKFZp434L0435 Q9UFH6 Q9UFH6_HUMAN false true Transporter Homo_sapiens DKFZp434L0435 55 6175.1 4.41 Involved in glycolipid transporter activity ["None"] ["None"] AL122073 50978454 DKFZp434L0435 DKFZp434L0435 HGNC:28116 true 2020-06-12T23:07:33Z 2020-07-28T02:32:15Z 0 0 0 5037 CDBP05036 T-cell surface glycoprotein CD1b P29016 CD1B_HUMAN false false Enzyme Homo_sapiens CD1B 333 36939.1 6.24 Involved in immune response Antigen-presenting protein that binds self and non-self lipid and glycolipid antigens and presents them to T-cell receptors on natural killer T-cells ["1-17"] ["304-324"] 1UQS AL121986 55859606 CD1B Chromosome:1 1q22-q23 CD1B HGNC:1635 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5038 CDBP05037 Glycolipid transfer protein Q9NZD2 GLTP_HUMAN false true Transporter Homo_sapiens GLTP 209 23849.6 7.49 Involved in glycolipid transporter activity Accelerates the intermembrane transfer of various glycolipids. Catalyzes the transfer of various glycosphingolipids between membranes but does not catalyze the transfer of phospholipids. May be involved in the intracellular translocation of glucosylceramides ["None"] ["None"] 1SX6 AF209704 GLTP Chromosome:1 12q24.11 GLTP HGNC:24867 true 2020-06-12T23:07:33Z 2020-07-28T02:32:15Z 0 0 0 5039 CDBP05038 Abl interactor 1 Q8IZP0 ABI1_HUMAN false false Enzyme Homo_sapiens ABI1 508 55080.4 7.08 Transcription May act in negative regulation of cell growth and transformation by interacting with nonreceptor tyrosine kinases ABL1 and/or ABL2. May play a role in regulation of EGF-induced Erk pathway activation. Involved in cytoskeletal reorganization and EGFR signaling. Together with EPS8 participates in transduction of signals from Ras to Rac. In vitro, a trimeric complex of ABI1, EPS8 and SOS1 exhibits Rac specific guanine nucleotide exchange factor (GEF) activity and ABI1 seems to act as an adapter in the complex. Regulates ABL1/c-Abl-mediated phosphorylation of MENA. Recruits WASF1 to lamellipodia and there seems to regulate WASF1 protein level ["None"] ["None"] NM_005470.3 61743942 ABI1 Chromosome:1 10p11.2 ABI1 HGNC:11320 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5040 CDBP05039 GTP-binding protein SAR1b Q9Y6B6 SAR1B_HUMAN false false Enzyme Homo_sapiens SAR1B 198 22409.7 6.02 Involved in GTP binding Involved in transport from the endoplasmic reticulum to the Golgi apparatus. Activated by the guanine nucleotide exchange factor PREB. Involved in the selection of the protein cargo and the assembly of the COPII coat complex ["None"] ["None"] 1F6B AF092130 SAR1B Chromosome:5 5q31.1 SAR1B HGNC:10535 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5041 CDBP05040 Ras-GEF domain-containing family member 1A Q8N9B8 RGF1A_HUMAN false false Enzyme Homo_sapiens RASGEF1A 481 54555.5 7.75 Involved in guanyl-nucleotide exchange factor activity Guanine nucleotide exchange factor (GEF) for KRAS, HRAS, and NRAS (in vitro). Plays a role in cell migration ["None"] ["None"] NM_145313.2 117168263 RASGEF1A Chromosome:1 10q11.21 RASGEF1A HGNC:24246 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5042 CDBP05041 G-protein-signaling modulator 1 Q86YR5 GPSM1_HUMAN false false Enzyme Homo_sapiens GPSM1 675 74509.5 6.51 Involved in GTPase activator activity Guanine nucleotide dissociation inhibitor (GDI) which functions as a receptor-independent activator of heterotrimeric G- protein signaling. Keeps G(i/o) alpha subunit in its GDP-bound form thus uncoupling heterotrimeric G-proteins signaling from G protein-coupled receptors. Controls spindle orientation and asymmetric cell fate of cerebral cortical progenitors. May also be involved in macroautophagy in intestinal cells. May play a role in drug addiction ["None"] ["None"] NM_001145638.1 224548927 GPSM1 Chromosome:9 9q34.3 GPSM1 HGNC:17858 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5043 CDBP05042 GTP-binding protein GEM P55040 GEM_HUMAN false false Enzyme Homo_sapiens GEM 296 33949.2 8.66 Involved in GTP binding Could be a regulatory protein, possibly participating in receptor-mediated signal transduction at the plasma membrane. Has guanine nucleotide-binding activity but undetectable intrinsic GTPase activity ["None"] ["None"] AK314017 189054208 GEM Chromosome:8 8q13-q21 GEM HGNC:4234 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5044 CDBP05043 Rap guanine nucleotide exchange factor-like 1 Q9UHV5 RPGFL_HUMAN false false Enzyme Homo_sapiens RAPGEFL1 662 73264.2 6.3 Involved in guanyl-nucleotide exchange factor activity Probable guanine nucleotide exchange factor (GEF) ["None"] ["None"] RAPGEFL1 Chromosome:1 17q21.1 RAPGEFL1 HGNC:17428 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5045 CDBP05044 Guanine nucleotide binding protein-like 1 B0V0L1 B0V0L1_HUMAN false false Enzyme Homo_sapiens GNL1 66 7538.7 6.96 ["None"] ["None"] GNL1 Chromosome:6 6p21.3 GNL1 HGNC:4413 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5046 CDBP05045 Rho guanine nucleotide exchange factor 6 Q15052 ARHG6_HUMAN false false Enzyme Homo_sapiens ARHGEF6 776 87498.1 5.9 Involved in Rho guanyl-nucleotide exchange factor activity Acts as a RAC1 guanine nucleotide exchange factor (GEF) ["None"] ["None"] NM_004840.2 22027525 ARHGEF6 ARHGEF6 HGNC:685 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5047 CDBP05046 Guanine nucleotide-binding protein subunit alpha-14 O95837 GNA14_HUMAN false false Receptor Homo_sapiens GNA14 355 41570.2 5.86 Involved in signal transducer activity Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems ["None"] ["None"] AF105201 4336774 GNA14 Chromosome:9 9q21 GNA14 HGNC:4382 true 2020-06-12T23:07:33Z 2020-07-28T02:32:21Z 1 0 0 5048 CDBP05047 PH and SEC7 domain-containing protein 4 Q8NDX1 PSD4_HUMAN false false Enzyme Homo_sapiens PSD4 1056 116248.3 5.19 Involved in ARF guanyl-nucleotide exchange factor activity Guanine nucleotide exchange factor for ARF6-like protein. Involved in membrane recycling ["None"] ["None"] AC016683 62630134 PSD4 Chromosome:2 2q13 PSD4 HGNC:19096 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5049 CDBP05048 Rho guanine nucleotide exchange factor 9 O43307 ARHG9_HUMAN false false Enzyme Homo_sapiens ARHGEF9 516 60981.8 5.44 Involved in Rho guanyl-nucleotide exchange factor activity Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters ["None"] ["None"] NM_015185.2 7662108 ARHGEF9 ARHGEF9 HGNC:14561 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5050 CDBP05049 Guanine nucleotide-binding protein G(k) subunit alpha P08754 GNAI3_HUMAN false false Receptor Homo_sapiens GNAI3 354 40531.8 5.37 Involved in signal transducer activity Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. G(k) is the stimulatory G protein of receptor- regulated K(+) channels ["None"] ["None"] 1CIP AF493907 20147707 GNAI3 Chromosome:1 1p13 GNAI3 HGNC:4387 true 2020-06-12T23:07:33Z 2020-07-28T02:32:21Z 1 0 0 5051 CDBP05050 Epithelial cell-transforming sequence 2 oncogene-like Q008S8 ECT2L_HUMAN false false Enzyme Homo_sapiens ECT2L 904 104878.7 8.52 Involved in Rho guanyl-nucleotide exchange factor activity May act as a guanine nucleotide exchange factor (GEF) ["None"] ["None"] AL121834 220675550 ECT2L Chromosome:6 6q24.1 ECT2L HGNC:21118 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5052 CDBP05051 Pleckstrin homology domain-containing family G member 6 Q3KR16 PKHG6_HUMAN false false Enzyme Homo_sapiens PLEKHG6 790 88960.3 7.01 Involved in Rho guanyl-nucleotide exchange factor activity Guanine nucleotide exchange factor activating the small GTPase RHOA, which, in turn, induces myosin filament formation. Also activates RHOG. Does not activate RAC1, or to a much lower extent than RHOA and RHOG. Part of a functional unit, involving PLEKHG6, MYH10 and RHOA, at the cleavage furrow to advance furrow ingression during cytokinesis. In epithelial cells, required for the formation of microvilli and membrane ruffles on the apical pole. Along with EZR, required for normal macropinocytosis ["None"] ["None"] NM_001144856.1 222080068 PLEKHG6 Chromosome:1 12p13.31 PLEKHG6 HGNC:25562 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5053 CDBP05052 Guanine nucleotide-binding protein G(i) subunit alpha-2 P04899 GNAI2_HUMAN false false Receptor Homo_sapiens GNAI2 355 40450.5 5.2 Involved in signal transducer activity Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. The G(i) proteins are involved in hormonal regulation of adenylate cyclase:they inhibit the cyclase in response to beta-adrenergic stimuli ["None"] ["None"] X04828 31744 GNAI2 Chromosome:3 3p21 GNAI2 HGNC:4385 true 2020-06-12T23:07:33Z 2020-07-28T02:32:21Z 1 0 0 5054 CDBP05053 Guanine nucleotide-binding protein G(t) subunit alpha-2 P19087 GNAT2_HUMAN false false Receptor Homo_sapiens GNAT2 354 40175.4 4.87 Involved in signal transducer activity Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Transducin is an amplifier and one of the transducers of a visual impulse that performs the coupling between rhodopsin and cGMP-phosphodiesterase ["None"] ["None"] AF493909 20147711 GNAT2 Chromosome:1 1p13.1 GNAT2 HGNC:4394 true 2020-06-12T23:07:33Z 2020-07-28T02:32:21Z 1 0 0 5055 CDBP05054 Rho guanine nucleotide exchange factor 37 A1IGU5 ARH37_HUMAN false false Enzyme Homo_sapiens ARHGEF37 675 76277.5 6.92 Involved in protein binding May act as a guanine nucleotide exchange factor (GEF) ["None"] ["None"] AB199796 121308635 ARHGEF37 Chromosome:5 5q32 ARHGEF37 HGNC:34430 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5056 CDBP05055 PH and SEC7 domain-containing protein 3 Q9NYI0 PSD3_HUMAN false false Enzyme Homo_sapiens PSD3 1048 116032.6 5.85 Involved in ARF guanyl-nucleotide exchange factor activity Guanine nucleotide exchange factor for ARF6 ["None"] ["None"] NM_015310 117606360 PSD3 Chromosome:8 8p21.3 PSD3 HGNC:19093 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5057 CDBP05056 PH and SEC7 domain-containing protein 1 A5PKW4 PSD1_HUMAN false false Enzyme Homo_sapiens PSD 1024 109541.6 6.86 Involved in ARF guanyl-nucleotide exchange factor activity Guanine nucleotide exchange factor for ARF6 ["None"] ["None"] NM_002779.3 56790299 PSD Chromosome:1 10q24 PSD HGNC:9507 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5058 CDBP05057 Guanine nucleotide-binding protein G(o) subunit alpha P09471 GNAO_HUMAN false false Receptor Homo_sapiens GNAO1 354 40050.2 5.19 Involved in signal transducer activity Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. The G(o) protein function is not clear ["None"] ["None"] AF493894 20147681 GNAO1 Chromosome:1 16q13 GNAO1 HGNC:4389 true 2020-06-12T23:07:33Z 2020-07-28T02:32:21Z 1 0 0 5059 CDBP05058 Ras-GEF domain-containing family member 1B Q0VAM2 RGF1B_HUMAN false false Enzyme Homo_sapiens RASGEF1B 473 55359.0 8.09 Involved in guanyl-nucleotide exchange factor activity Guanine nucleotide exchange factor (GEF) for Ras family proteins (in vitro) ["None"] ["None"] NM_152545.1 22749129 RASGEF1B Chromosome:4 4q21.21 RASGEF1B HGNC:24881 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5060 CDBP05059 Rho guanine nucleotide exchange factor 18 Q6ZSZ5 ARHGI_HUMAN false false Enzyme Homo_sapiens ARHGEF18 1173 130779.3 7.08 Involved in Rho guanyl-nucleotide exchange factor activity Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPases. May play a role in actin cytoskeleton reorganization in different tissues since its activation induces formation of actin stress fibers. Also act as a GEF for RAC1, inducing production of reactive oxygen species (ROS). Does not act as a GEF for CDC42. The G protein beta-gamma (Gbetagamma) subunits of heterotrimeric G proteins act as activators, explaining the integrated effects of LPA and other G-protein coupled receptor agonists on actin stress fiber formation, cell shape change and ROS production ["None"] ["None"] NM_001130955.1 195972857 ARHGEF18 Chromosome:1 19p13.3 ARHGEF18 HGNC:17090 true 2020-06-12T23:07:33Z 2020-07-28T02:34:28Z 0 0 0 5061 CDBP05060 ALS2 C-terminal-like protein Q60I27 AL2CL_HUMAN false false Enzyme Homo_sapiens ALS2CL 953 107747.5 6.09 Involved in Rho guanyl-nucleotide exchange factor activity Acts as a guanine nucleotide exchange factor (GEF) for Rab5 GTPase. Regulates the ALS2-mediated endosome dynamics ["None"] ["None"] AB107015 52693642 ALS2CL Chromosome:3 3p21.31 ALS2CL HGNC:20605 true 2020-06-12T23:07:34Z 2020-07-28T02:34:28Z 0 0 0 5062 CDBP05061 Switch-associated protein 70 Q9UH65 SWP70_HUMAN false false Enzyme Homo_sapiens SWAP70 585 68997.2 5.65 Involved in calcium ion binding Phosphatidylinositol 3,4,5-trisphosphate-dependent guanine nucleotide exchange factor (GEF) which, independently of RAS, transduces signals from tyrosine kinase receptors to RAC. It also mediates signaling of membrane ruffling. Regulates the actin cytoskeleton as an effector or adapter protein in response to agonist stimulated phosphatidylinositol (3,4)-bisphosphate production and cell protrusion ["None"] ["None"] NM_015055.2 93102364 SWAP70 Chromosome:1 11p15 SWAP70 HGNC:17070 true 2020-06-12T23:07:34Z 2020-07-28T02:34:28Z 0 0 0 5063 CDBP05062 Ras-specific guanine nucleotide-releasing factor RalGPS2 Q86X27 RGPS2_HUMAN false false Enzyme Homo_sapiens RALGPS2 583 65166.5 9.05 Involved in guanyl-nucleotide exchange factor activity Guanine nucleotide exchange factor for the small GTPase RALA. May be involved in cytoskeletal organization. May also be involved in the stimulation of transcription in a Ras-independent fashion ["None"] ["None"] NM_152663.3 32441283 RALGPS2 Chromosome:1 1q25.2 RALGPS2 HGNC:30279 true 2020-06-12T23:07:34Z 2020-07-28T02:34:28Z 0 0 0 5064 CDBP05063 FERM, RhoGEF and pleckstrin domain-containing protein 2 O94887 FARP2_HUMAN false false Enzyme Homo_sapiens FARP2 1054 119887.5 9.05 Involved in Rho guanyl-nucleotide exchange factor activity Rho-guanine nucleotide exchange factor that activates RAC1. Plays a role in the response to class 3 semaphorins and remodeling of the actin cytoskeleton ["None"] ["None"] NM_014808.2 7662310 FARP2 Chromosome:2 2q37.3 FARP2 HGNC:16460 true 2020-06-12T23:07:34Z 2020-07-28T02:34:28Z 0 0 0 5065 CDBP05064 Ral guanine nucleotide dissociation stimulator-like 1 Q9NZL6 RGL1_HUMAN false false Enzyme Homo_sapiens RGL1 768 86700.5 5.96 Involved in signal transduction Probable guanine nucleotide exchange factor ["None"] ["None"] 1EF5 AF186779 7682471 RGL1 Chromosome:1 1q25.3 RGL1 HGNC:30281 true 2020-06-12T23:07:34Z 2020-07-28T02:34:28Z 0 0 0 5066 CDBP05065 Guanine nucleotide-binding protein subunit alpha-13 Q14344 GNA13_HUMAN false false Receptor Homo_sapiens GNA13 377 44049.2 8.13 Involved in signal transducer activity Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems ["None"] ["None"] AF493902 20147697 GNA13 Chromosome:1 17q24.3 GNA13 HGNC:4381 true 2020-06-12T23:07:34Z 2020-07-28T02:32:21Z 1 0 0 5067 CDBP05066 Vav-like protein C9orf100 Q8N4T4 CI100_HUMAN false false Enzyme Homo_sapiens C9orf100 335 38294.8 10.09 Involved in Rho guanyl-nucleotide exchange factor activity Guanine nucleotide exchange factor ["None"] ["None"] NM_032818.2 90652857 C9orf100 Chromosome:9 9p13.3 C9orf100 HGNC:25909 true 2020-06-12T23:07:34Z 2020-07-28T02:34:28Z 0 0 0 5068 CDBP05067 Probable guanine nucleotide exchange factor MCF2L2 Q86YR7 MF2L2_HUMAN false false Enzyme Homo_sapiens MCF2L2 1114 126961.6 6.37 Involved in Rho guanyl-nucleotide exchange factor activity Probably functions as a guanine nucleotide exchange factor ["None"] ["None"] NM_015078.2 31742505 MCF2L2 Chromosome:3 3q27.1 MCF2L2 HGNC:30319 true 2020-06-12T23:07:34Z 2020-07-28T02:34:29Z 0 0 0 5069 CDBP05068 Rho guanine nucleotide exchange factor 7 Q14155 ARHG7_HUMAN false false Enzyme Homo_sapiens ARHGEF7 803 90011.2 7.1 Involved in Rho guanyl-nucleotide exchange factor activity Acts as a RAC1 guanine nucleotide exchange factor (GEF) and can induce membrane ruffling. May function as a positive regulator of apoptosis. May function in cell migration ["None"] ["None"] 1BY1 NM_001113511.1 166064034 ARHGEF7 Chromosome:1 13q34 ARHGEF7 HGNC:15607 true 2020-06-12T23:07:34Z 2020-07-28T02:34:29Z 0 0 0 5070 CDBP05069 Guanine nucleotide binding protein (G protein), alpha 14 B1ALW3 B1ALW3_HUMAN false false Receptor Homo_sapiens GNA14 355 41570.2 5.86 Involved in signal transducer activity ["None"] ["None"] AK312460 189065528 GNA14 Chromosome:9 9q21 GNA14 HGNC:4382 true 2020-06-12T23:07:34Z 2020-07-28T02:32:21Z 1 0 0 5071 CDBP05070 Guanine nucleotide-binding protein subunit alpha-12 Q03113 GNA12_HUMAN false false Receptor Homo_sapiens GNA12 381 44278.8 10.48 Involved in signal transducer activity Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems ["None"] ["None"] NM_007353.2 42476111 GNA12 Chromosome:7 7p22.2 GNA12 HGNC:4380 true 2020-06-12T23:07:34Z 2020-07-28T02:32:22Z 1 0 0 5072 CDBP05071 Ras-specific guanine nucleotide-releasing factor RalGPS1 Q5JS13 RGPS1_HUMAN false false Enzyme Homo_sapiens RALGPS1 557 62132.4 9.52 Involved in guanyl-nucleotide exchange factor activity May be involved in cytoskeletal organization. May also be involved in the stimulation of transcription in a Ras-independent fashion. Guanine nucleotide exchange factor for the small GTPase RALA ["None"] ["None"] NM_014636.2 7662070 RALGPS1 Chromosome:9 9q33.3 RALGPS1 HGNC:16851 true 2020-06-12T23:07:34Z 2020-07-28T02:34:29Z 0 0 0 5073 CDBP05072 Rho guanine nucleotide exchange factor 11 O15085 ARHGB_HUMAN false false Enzyme Homo_sapiens ARHGEF11 1522 167702.8 5.18 Involved in Rho guanyl-nucleotide exchange factor activity May play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13). Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase and may act as GTPase-activating protein (GAP) for GNA12 and GNA13 ["None"] ["None"] 1XCG NM_014784.2 7662086 ARHGEF11 Chromosome:1 1q21 ARHGEF11 HGNC:14580 true 2020-06-12T23:07:34Z 2020-07-28T02:34:29Z 0 0 0 5074 CDBP05073 Growth factor receptor-bound protein 2 P62993 GRB2_HUMAN false false Receptor Homo_sapiens GRB2 217 25206.2 6.25 Involved in protein binding Isoform GRB3-3 does not bind to phosphorylated epidermal growth factor receptor (EGFR) but inhibits EGF-induced transactivation of a RAS-responsive element. Isoform GRB3-3 acts as a dominant negative protein over GRB2 and by suppressing proliferative signals, may trigger active programmed cell death ["None"] ["None"] 1GRI M96995 GRB2 Chromosome:1 17q24-q25 GRB2 HGNC:4566 true 2020-06-12T23:07:34Z 2020-07-28T02:30:38Z 1 0 0 5075 CDBP05074 Guanine nucleotide binding protein (G protein), beta polypeptide 1 B1AKQ8 B1AKQ8_HUMAN false false Enzyme Homo_sapiens GNB1 108 12284.9 10.02 ["None"] ["None"] 1OMW AL109917 66347283 GNB1 Chromosome:1 1p36.33 GNB1 HGNC:4396 true 2020-06-12T23:07:34Z 2020-07-28T02:34:29Z 0 0 0 5076 CDBP05075 Rho guanine nucleotide exchange factor 10-like protein Q9HCE6 ARGAL_HUMAN false false Enzyme Homo_sapiens ARHGEF10L 1279 140363.9 5.76 Involved in Rho guanyl-nucleotide exchange factor activity Acts as guanine nucleotide exchange factor (GEF) for RHOA, RHOB and RHOC ["None"] ["None"] NM_018125.3 58761492 ARHGEF10L Chromosome:1 1p36.13 ARHGEF10L HGNC:25540 true 2020-06-12T23:07:34Z 2020-07-28T02:34:29Z 0 0 0 5077 CDBP05076 Guanine nucleotide binding protein (G protein), q polypeptide B1AM21 B1AM21_HUMAN false false Receptor Homo_sapiens GNAQ 170 19680.9 6.12 Involved in signal transducer activity ["None"] ["None"] AL160268 55957957 GNAQ Chromosome:9 9q21 GNAQ HGNC:4390 true 2020-06-12T23:07:34Z 2020-07-28T02:32:22Z 1 0 0 5078 CDBP05077 Protein SOLO Q8TER5 SOLO_HUMAN false false Enzyme Homo_sapiens SOLO 1519 164656.0 6.07 Involved in Rho guanyl-nucleotide exchange factor activity May act as a guanine nucleotide exchange factor (GEF) ["None"] ["None"] NM_018071.3 50843837 SOLO ARHGEF40 HGNC:25516 true 2020-06-12T23:07:34Z 2020-07-28T02:34:29Z 0 0 0 5079 CDBP05078 Prolactin regulatory element-binding protein Q9HCU5 PREB_HUMAN false false Enzyme Homo_sapiens PREB 417 45467.8 7.95 Involved in DNA binding Was first identified based on its probable role in the regulation of pituitary gene transcription. Binds to the prolactin gene (PRL) promoter and seems to activate transcription. Guanine nucleotide exchange factor that activates SARA2. Required for the formation of COPII transport vesicles from the ER ["None"] ["389-409"] AF203687 6606522 PREB Chromosome:2 2p23.3 PREB HGNC:9356 true 2020-06-12T23:07:34Z 2020-07-28T02:34:29Z 0 0 0 5080 CDBP05079 Rho guanine nucleotide exchange factor 4 Q9NR80 ARHG4_HUMAN false false Enzyme Homo_sapiens ARHGEF4 690 79065.9 7.0 Involved in Rho guanyl-nucleotide exchange factor activity Acts as guanine nucleotide exchange factor (GEF) for RhoA and RAC1 GTPases. Binding of APC may activate RAC1 GEF activity. The APC-ARHGEF4 complex seems to be involved in cell migration as well as in E-cadherin-mediated cell-cell adhesion ["None"] ["None"] NM_015320.2 15011979 ARHGEF4 Chromosome:2 2q22 ARHGEF4 HGNC:684 true 2020-06-12T23:07:34Z 2020-07-28T02:34:29Z 0 0 0 5081 CDBP05080 Guanine nucleotide exchange factor for Rab-3A Q8TBN0 R3GEF_HUMAN false false Enzyme Homo_sapiens RAB3IL1 382 42636.2 6.43 Involved in guanyl-nucleotide exchange factor activity Guanine nucleotide exchange factor (GEF) for Rab3A, a GTPase that regulates synaptic vesicle exocytosis ["None"] ["None"] NM_013401.2 21361440 RAB3IL1 Chromosome:1 11q12.2 RAB3IL1 HGNC:9780 true 2020-06-12T23:07:34Z 2020-07-28T02:34:29Z 0 0 0 5082 CDBP05081 Engulfment and cell motility protein 1 Q92556 ELMO1_HUMAN false false Enzyme Homo_sapiens ELMO1 727 83828.6 6.22 Involved in binding Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in assocation with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1 ["None"] ["None"] AF398885 16118555 ELMO1 Chromosome:7 7p14.1 ELMO1 HGNC:16286 true 2020-06-12T23:07:34Z 2020-07-28T02:34:29Z 0 0 0 5083 CDBP05082 GRB2-related adapter protein Q13588 GRAP_HUMAN false false Enzyme Homo_sapiens GRAP 217 25336.4 7.06 Involved in protein binding Couples signals from receptor and cytoplasmic tyrosine kinases to the Ras signaling pathway ["None"] ["None"] NM_006613.3 5729856 GRAP Chromosome:1 17p11.2 GRAP HGNC:4562 true 2020-06-12T23:07:34Z 2020-07-28T02:34:29Z 0 0 0 5084 CDBP05083 Guanine nucleotide-binding protein G(z) subunit alpha P19086 GNAZ_HUMAN false false Receptor Homo_sapiens GNAZ 355 40923.3 7.69 Involved in signal transducer activity Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems ["None"] ["None"] AF493899 20147691 GNAZ Chromosome:2 22q11.22 GNAZ HGNC:4395 true 2020-06-12T23:07:34Z 2020-07-28T02:32:22Z 1 0 0 5085 CDBP05084 Engulfment and cell motility protein 3 Q96BJ8 ELMO3_HUMAN false false Enzyme Homo_sapiens ELMO3 720 81466.2 6.23 Involved in binding Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in assocation with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1 ["None"] ["None"] 87298935 ELMO3 Chromosome:1 16q22.1 ELMO3 HGNC:17289 true 2020-06-12T23:07:34Z 2020-07-28T02:34:29Z 0 0 0 5086 CDBP05085 Guanine nucleotide exchange factor GEFT Q86VW2 GEFT_HUMAN false false Enzyme Homo_sapiens GEFT 580 63842.1 6.58 Involved in Rho guanyl-nucleotide exchange factor activity May play a role in actin cytoskeleton reorganization in different tissues since its activation induces formation of actin stress fibers. It works as a guanine nucleotide exchange factor for Rho family of small GTPases. Links specifically G alpha q/11- coupled receptors to RHOA activation. May be an important regulator of processes involved in axon and dendrite formation. In neurons seems to be an exchange factor primarily for RAC1. Involved in skeletal myogenesis ["None"] ["None"] NM_182947.2 150417975 GEFT Chromosome:1 12q13.3 ARHGEF25 HGNC:30275 true 2020-06-12T23:07:34Z 2020-07-28T02:34:29Z 0 0 0 5087 CDBP05086 Differentially expressed in FDCP 6 homolog Q9H4E7 DEFI6_HUMAN false false Enzyme Homo_sapiens DEF6 631 73909.8 5.89 Cell cycle control, cell division, chromosome partitioning Phosphatidylinositol 3,4,5-trisphosphate-dependent guanine nucleotide exchange factor (GEF) which plays a role in the activation of Rho GTPases RAC1, RhoA and CDC42. Can regulate cell morphology in cooperation with activated RAC1. Plays a role in Th2 (T helper cells) development and/or activation, perhaps by interfering with ZAP-70 signaling ["None"] ["None"] AJ276095 10178881 DEF6 Chromosome:6 6p21.33-p21.1 DEF6 HGNC:2760 true 2020-06-12T23:07:34Z 2020-07-28T02:34:29Z 0 0 0 5088 CDBP05087 Alpha-catulin Q9UBT7 CTNL1_HUMAN false false Enzyme Homo_sapiens CTNNAL1 734 81895.6 6.62 Involved in structural molecule activity May modulate the Rho pathway signaling by providing a scaffold for the Lbc Rho guanine nucleotide exchange factor (ARHGEF1) ["None"] ["None"] AB451283 197692267 CTNNAL1 Chromosome:9 9q31.2 CTNNAL1 HGNC:2512 true 2020-06-12T23:07:34Z 2020-07-28T02:34:29Z 0 0 0 5089 CDBP05088 IQ motif and SEC7 domain-containing protein 3 Q9UPP2 IQEC3_HUMAN false false Enzyme Homo_sapiens IQSEC3 1182 127619.9 6.49 Involved in ARF guanyl-nucleotide exchange factor activity Acts as a guanine nucleotide exchange factor (GEF) for ARF1 ["None"] ["None"] NM_001170738.1 282721018 IQSEC3 Chromosome:1 12p13.33 IQSEC3 HGNC:29193 true 2020-06-12T23:07:34Z 2020-07-28T02:34:29Z 0 0 0 5090 CDBP05089 Engulfment and cell motility protein 2 Q96JJ3 ELMO2_HUMAN false false Enzyme Homo_sapiens ELMO2 720 82614.3 5.7 Involved in binding Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in assocation with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1 ["None"] ["None"] NM_133171.3 19718769 ELMO2 Chromosome:2 20q13 ELMO2 HGNC:17233 true 2020-06-12T23:07:34Z 2020-07-28T02:34:29Z 0 0 0 5091 CDBP05090 Rho guanine nucleotide exchange factor 17 Q96PE2 ARHGH_HUMAN false false Enzyme Homo_sapiens ARHGEF17 2063 221670.1 6.22 Involved in Rho guanyl-nucleotide exchange factor activity Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPases ["None"] ["None"] NM_014786.3 21361458 ARHGEF17 Chromosome:1 11q13.4 ARHGEF17 HGNC:21726 true 2020-06-12T23:07:34Z 2020-07-28T02:34:29Z 0 0 0 5092 CDBP05091 Ras-GEF domain-containing family member 1C Q8N431 RGF1C_HUMAN false false Enzyme Homo_sapiens RASGEF1C 466 52869.3 7.72 Involved in guanyl-nucleotide exchange factor activity Guanine nucleotide exchange factor (GEF) ["None"] ["None"] AF449764 33187643 RASGEF1C Chromosome:5 5q35.3 RASGEF1C HGNC:27400 true 2020-06-12T23:07:34Z 2020-07-28T02:34:29Z 0 0 0 5093 CDBP05092 Rho guanine nucleotide exchange factor 12 Q9NZN5 ARHGC_HUMAN false false Enzyme Homo_sapiens ARHGEF12 1544 173231.0 5.51 Involved in Rho guanyl-nucleotide exchange factor activity May play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13). Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase and may act as GTPase-activating protein (GAP) for GNA12 and GNA13 ["None"] ["None"] 1X86 NM_015313.2 7662088 ARHGEF12 Chromosome:1 11q23.3 ARHGEF12 HGNC:14193 true 2020-06-12T23:07:34Z 2020-07-28T02:34:29Z 0 0 0 5094 CDBP05093 Ephexin-1 Q8N5V2 NGEF_HUMAN false false Enzyme Homo_sapiens NGEF 710 82495.6 5.26 Involved in Rho guanyl-nucleotide exchange factor activity Acts as a guanine nucleotide exchange factor (GEF) which differentially activates the GTPases RHOA, RAC1 and CDC42. Plays a role in axon guidance regulating ephrin-induced growth cone collapse. Upon activation by ephrin through EPHA4, the GEF activity switches toward RHOA resulting in its activation. Activated RHOA promotes cone retraction at the expense of RAC1- and CDC42-stimulated growth cone extension ["None"] ["None"] NM_019850.2 166197688 NGEF Chromosome:2 2q37 NGEF HGNC:7807 true 2020-06-12T23:07:34Z 2020-07-28T02:34:29Z 0 0 0 5095 CDBP05094 Guanine nucleotide-binding protein G(olf) subunit alpha P38405 GNAL_HUMAN false false Receptor Homo_sapiens GNAL 381 44308.1 6.63 Involved in signal transducer activity Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. G(olf) alpha mediates signal transduction within the olfactory neuroepithelium and the basal ganglia. May be involved in some aspect of visual transduction, and in mediating the effect of one or more hormones/neurotransmitters ["None"] ["None"] AF493893 20147679 GNAL Chromosome:1 18p11.22-p11.21 GNAL HGNC:4388 true 2020-06-12T23:07:34Z 2020-07-28T02:32:22Z 1 0 0 5096 CDBP05095 Guanine nucleotide-binding protein subunit alpha-15 P30679 GNA15_HUMAN false false Receptor Homo_sapiens GNA15 374 43507.6 8.59 Involved in signal transducer activity Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems ["None"] ["None"] NM_002068.2 156104883 GNA15 Chromosome:1 19p13.3 GNA15 HGNC:4383 true 2020-06-12T23:07:34Z 2020-07-28T02:32:22Z 1 0 0 5097 CDBP05096 Rho guanine nucleotide exchange factor 3 Q9NR81 ARHG3_HUMAN false false Enzyme Homo_sapiens ARHGEF3 526 59782.1 6.38 Involved in Rho guanyl-nucleotide exchange factor activity Acts as guanine nucleotide exchange factor (GEF) for RhoA and RhoB GTPases ["None"] ["None"] NM_019555.2 9506401 ARHGEF3 Chromosome:3 3p21-p13 ARHGEF3 HGNC:683 true 2020-06-12T23:07:34Z 2020-07-28T02:34:29Z 0 0 0 5098 CDBP05097 NAT2 Q1HRY2 Q1HRY2_HUMAN false false Enzyme Homo_sapiens 263 30334.7 6.03 Involved in acetyltransferase activity ["None"] ["None"] DQ422143 95878295 HGNC:7646 true 2020-06-12T23:07:34Z 2020-07-28T02:34:29Z 0 0 0 5099 CDBP05098 NAT1 Q09LL5 Q09LL5_HUMAN false false Enzyme Homo_sapiens 284 33118.6 6.51 Involved in acetyltransferase activity ["None"] ["None"] DQ871603 114053975 HGNC:7645 true 2020-06-12T23:07:34Z 2020-07-28T02:34:29Z 0 0 0 5100 CDBP05099 N-acetyltransferase-1 Q5C8V2 Q5C8V2_HUMAN true false Enzyme Homo_sapiens NAT1 57 6575.5 4.82 Involved in acetyltransferase activity ["None"] ["None"] AY730684 60502303 NAT1 Chromosome:8 8p22 NAT1 HGNC:7645 true 2020-06-12T23:07:34Z 2020-07-28T02:30:40Z 0 0 0 5101 CDBP05100 N-acetyltransferase 6 Q93015 NAT6_HUMAN true false Enzyme Homo_sapiens NAT6 286 31444.9 7.95 Involved in N-acetyltransferase activity Seems to be involved in N-acetylation. Acts on peptides with a N-terminal Met followed by Asp/Glu/Asn. May act as a tumor suppressor ["None"] ["None"] AF040705 2935322 NAT6 Chromosome:3 3p21.3 NAT6 HGNC:30252 true 2020-06-12T23:07:34Z 2020-06-12T23:07:34Z 0 0 0 5102 CDBP05101 Galactosidase, alpha Q53Y83 Q53Y83_HUMAN true false Enzyme Homo_sapiens GLA 429 48766.3 5.27 Involved in catalytic activity ["None"] ["None"] 1R47 AK291095 158255626 GLA GLA HGNC:4296 true 2020-06-12T23:07:34Z 2020-06-12T23:07:34Z 0 0 0 5103 CDBP05102 Glycerophosphoinositol inositolphosphodiesterase GDPD2 Q9HCC8 GDPD2_HUMAN true false Enzyme Homo_sapiens GDPD2 539 52185.905 8.528 Involved in glycerophosphodiester phosphodiesterase activity Has glycerophosphoinositol inositolphosphodiesterase activity and specifically hydrolyzes glycerophosphoinositol, with no activity for other substrates such as glycerophosphoinositol 4-phosphate, glycerophosphocholine, glycerophosphoethanolamine, and glycerophosphoserine. Accelerates the program of osteoblast differentiation and growth. May play a role in remodeling of the actin cytoskeleton (By similarity). AB048363 10039439 GDPD2 X Xq13.1 GDPD2 HGNC:25974 true hsa:54857 NP_001164662.1:NM_001171191.1;NP_001164663.1:NM_001171192.1;NP_001164664.1:NM_001171193.1;NP_060181.2:NM_017711.3 Calcium 2020-06-12T23:07:34Z 2020-07-28T02:30:40Z 0 1 0 5104 CDBP05103 Putative lipoyltransferase 2, mitochondrial A6NK58 LIPT2_HUMAN true false Enzyme Homo_sapiens LIPT2 231 25195.1 8.34 Involved in catalytic activity Catalyzes the transfer of endogenously produced octanoic acid from octanoyl-acyl-carrier-protein onto the lipoyl domains of lipoate-dependent enzymes. Lipoyl-ACP can also act as a substrate although octanoyl-ACP is likely to be the physiological substrate ["None"] ["None"] NM_001144869.1 221554520 LIPT2 Chromosome:1 11q13.4 LIPT2 HGNC:37216 true 2020-06-12T23:07:34Z 2020-06-12T23:07:34Z 0 0 0 5105 CDBP05104 Nuclear receptor ROR-beta Q92753 RORB_HUMAN true false Enzyme Homo_sapiens RORB 470 53219.4 7.69 Involved in sequence-specific DNA binding transcription factor activity Orphan nuclear receptor required for normal postnatal development of rod and cone photoreceptor cells. Regulates transcription of OPN1SW in cone photoreceptor cells by binding the sequence 5'-AGGTCA-3' in the OPN1SW promoter ["None"] ["None"] 1N4H 19743907 RORB Chromosome:9 9q22 RORB HGNC:10259 true 2020-06-12T23:07:34Z 2020-07-28T02:30:40Z 1 1 1 5106 CDBP05105 Cyclin-dependent kinase 2-interacting protein Q9BW66 CINP_HUMAN true false Enzyme Homo_sapiens CINP 212 24323.6 6.24 Involved in cell cycle Interacts with the components of the replication complex and 2 kinases, CDK2 and CDC7, thereby providing a functional and physical link between CDK2 and CDC7 during firing of the origins of replication. Regulates ATR-mediated checkpoint signaling ["None"] ["None"] AF228148 7274384 CINP Chromosome:1 14q32.31 CINP HGNC:23789 true 2020-06-12T23:07:34Z 2020-06-12T23:07:34Z 0 0 0 5107 CDBP05106 HIRA-interacting protein 3 Q9BW71 HIRP3_HUMAN true false Enzyme Homo_sapiens HIRIP3 556 61956.5 8.9 Translation, ribosomal structure and biogenesis May play a role in chromatin function and histone metabolism via its interaction with HIRA and histones ["None"] ["None"] NM_003609.3 21396500 HIRIP3 Chromosome:1 16p11.2 HIRIP3 HGNC:4917 true 2020-06-12T23:07:34Z 2020-06-12T23:07:34Z 0 0 0 5108 CDBP05107 Putative acyl-coenzyme A thioesterase 6 Q3I5F7 ACOT6_HUMAN true false Enzyme Homo_sapiens ACOT6 207 22990.5 8.9 Involved in carboxylesterase activity ["None"] ["None"] BC126378 118835784 ACOT6 Chromosome:1 14q24.3 ACOT6 HGNC:33159 true 2020-06-12T23:07:34Z 2020-06-12T23:07:34Z 0 0 0 5109 CDBP05108 Carboxypeptidase N subunit 2 P22792 CPN2_HUMAN true false Enzyme Homo_sapiens CPN2 545 60614.1 5.89 Involved in protein binding The 83 kDa subunit binds and stabilizes the catalytic subunit at 37 degrees Celsius and keeps it in circulation. Under some circumstances it may be an allosteric modifier of the catalytic subunit ["1-21"] ["None"] J05158 51173528 CPN2 Chromosome:3 3q29 CPN2 HGNC:2313 true 2020-06-12T23:07:34Z 2020-06-12T23:07:34Z 0 0 0 5110 CDBP05109 Carbonic anhydrase-related protein P35219 CAH8_HUMAN true false Enzyme Homo_sapiens CA8 290 Involved in carbonate dehydratase activity Does not have a carbonic anhydrase catalytic activity. 2W2J L04656 5069431 CA8 CA8 HGNC:1382 true hsa:767 NP_004047.3:NM_004056.4 2020-06-12T23:07:34Z 2020-07-28T02:30:40Z 0 1 0 5111 CDBP05110 Ubiquitin carboxyl-terminal hydrolase 11 P51784 UBP11_HUMAN true false Enzyme Homo_sapiens USP11 963 109815.8 5.14 Involved in ubiquitin thiolesterase activity Protease that can remove conjugated ubiquitin from target proteins and polyubiquitin chains. Inhibits the degradation of target proteins by the proteasome. Plays a role in the regulation of pathways leading to NF-kappa-B activation. Plays a role in the regulation of DNA repair after double-stranded DNA breaks ["None"] ["None"] BC140849 187954551 USP11 USP11 HGNC:12609 true 2020-06-12T23:07:34Z 2020-06-12T23:07:34Z 0 0 0 5112 CDBP05111 Hyaluronan-binding protein 2 Q14520 HABP2_HUMAN true false Enzyme Homo_sapiens HABP2 560 62671.3 6.52 Involved in serine-type endopeptidase activity Cleaves the alpha-chain at multiple sites and the beta- chain between 'Lys-53' and 'Lys-54' but not the gamma-chain of fibrinogen and therefore does not initiate the formation of the fibrin clot and does not cause the fibrinolysis directly. It does not cleave (activate) prothrombin and plasminogen but converts the inactive single chain urinary plasminogen activator (pro- urokinase) to the active two chain form. Activates coagulation factor VII ["1-23"] ["None"] S83182 HABP2 Chromosome:1 10q25.3 HABP2 HGNC:4798 true 2020-06-12T23:07:34Z 2020-06-12T23:07:34Z 0 0 0 5113 CDBP05112 E3 ubiquitin-protein ligase MIB1 Q86YT6 MIB1_HUMAN true false Enzyme Homo_sapiens MIB1 1006 110135.1 6.9 Involved in ubiquitin-protein ligase activity E3 ubiquitin-protein ligase that mediates ubiquitination of Delta receptors, which act as ligands of Notch proteins. Positively regulates the Delta-mediated Notch signaling by ubiquitinating the intracellular domain of Delta, leading to endocytosis of Delta receptors. Probably mediates ubiquitination and subsequent proteasomal degradation of DAPK1, thereby antagonizing anti-apoptotic effects of DAPK1 to promote TNF- induced apoptosis ["None"] ["None"] AY149908 MIB1 Chromosome:1 18q11.2 MIB1 HGNC:21086 true 2020-06-12T23:07:34Z 2020-07-28T02:30:41Z 0 1 0 5114 CDBP05113 Sphingosine-1-phosphate phosphatase 2 Q8IWX5 SGPP2_HUMAN true false Enzyme Homo_sapiens SGPP2 399 Involved in catalytic activity Has specific phosphohydrolase activity towards sphingoid base 1-phosphates. Has high phosphohydrolase activity against dihydrosphingosine-1-phosphate and sphingosine-1-phosphate (S1P) in vitro. May play a role in attenuating intracellular sphingosine 1-phosphate (S1P) signaling. May play a role in pro-inflammatory signaling. AF542512 SGPP2 SGPP2 HGNC:19953 true hsa:130367 NP_689599.2:NM_152386.2 Expressed strongly in kidney and heart, followed by brain, colon, small intestine and lung. Not detected in skeletal muscle, thymus, spleen, liver, placenta, and peripheral blood leukocytes. 2020-06-12T23:07:34Z 2020-06-12T23:07:34Z 0 0 0 5115 CDBP05114 Ubiquitin carboxyl-terminal hydrolase 38 Q8NB14 UBP38_HUMAN true false Enzyme Homo_sapiens USP38 1042 116545.0 6.16 Involved in ubiquitin thiolesterase activity Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C- terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal) ["None"] ["None"] NM_032557.5 27545313 USP38 USP38 HGNC:20067 true 2020-06-12T23:07:34Z 2020-06-12T23:07:34Z 0 0 0 5116 CDBP05115 E3 ubiquitin-protein ligase RNF138 Q8WVD3 RN138_HUMAN true false Enzyme Homo_sapiens RNF138 245 28192.4 6.93 Involved in zinc ion binding E3 ubiquitin-protein ligase. Together with NLK, involved in the ubiquitination and degradation of TCF/LEF. Also exhibits auto-ubiquitination activity in combination with UBE2K. May act as a negative regulator in the Wnt/beta-catenin-mediated signaling pathway ["None"] ["None"] AF162680 6468773 RNF138 Chromosome:1 18q12.1 RNF138 HGNC:17765 true 2020-06-12T23:07:34Z 2020-07-28T02:30:41Z 0 1 0 5117 CDBP05116 Cyclin-dependent kinase-like 2 Q92772 CDKL2_HUMAN true false Enzyme Homo_sapiens CDKL2 493 56018.1 8.34 Involved in protein kinase activity ATP + a protein = ADP + a phosphoprotein ["None"] ["None"] U35146 CDKL2 Chromosome:4 4q21.1 CDKL2 HGNC:1782 true 2020-06-12T23:07:34Z 2020-06-12T23:07:34Z 0 0 0 5118 CDBP05117 E3 ubiquitin-protein ligase RING2 Q99496 RING2_HUMAN true false Enzyme Homo_sapiens RNF2 336 37655.0 6.84 Involved in protein binding E3 ubiquitin-protein ligase that mediates monoubiquitination of 'Lys-119' of histone H2A, thereby playing a central role in histone code and gene regulation. H2A 'Lys-119' ubiquitination gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. May be involved in the initiation of both imprinted and random X inactivation. Essential component of the Polycomb group (PcG) multiprotein PRC1 complex, a complex required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex act via chromatin remodeling and modification of histones, rendering chromatin heritably changed in its expressibility. E3 ubiquitin- protein ligase activity is enhanced by BMI1/PCGF4. Acts as the main E3 ubiquitin ligase on histone H2A of the PRC1 complex, while RING1 may rather act as a modulator of RNF2/RING2 activity ["None"] ["None"] Y10571 1785643 RNF2 Chromosome:1 1q25.3 RNF2 HGNC:10061 true 2020-06-12T23:07:34Z 2020-07-28T02:30:41Z 0 1 0 5119 CDBP05118 UDP-N-acetylglucosamine transferase subunit ALG13 homolog Q9NP73 ALG13_HUMAN true false Enzyme Homo_sapiens ALG13 1137 15149.285 9.375 Involved in transferase activity, transferring hexosyl groups Isoform 2 may be involved in protein N-glycosylation, second step of the dolichol-linked oligosaccharide pathway. NM_001099922.2 153791910 ALG13 X Xq23 ALG13 HGNC:30881 true hsa:79868 NP_001034299.3:NM_001039210.3;NP_001093392.1:NM_001099922.2;NP_001161857.1:NM_001168385.1;NP_001244159.1:NM_001257230.1;NP_001244160.1:NM_001257231.1;NP_001244163.1:NM_001257234.1;NP_001244166.1:NM_001257237.1;NP_001244170.1:NM_001257241.1;NP_060936.1:NM_018466.4 Isoform 2 may interact with ALG14 2020-06-12T23:07:34Z 2020-06-12T23:07:34Z 0 0 0 5120 CDBP05119 L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase Q9NRN7 ADPPT_HUMAN true false Enzyme Homo_sapiens AASDHPPT 309 35775.64 6.805 Involved in magnesium ion binding Catalyzes the post-translational modification of target proteins by phosphopantetheine. Can transfer the 4'-phosphopantetheine moiety from coenzyme A to a serine residue of a broad range of acceptors, such as the acyl carrier domain of FASN. 2BYD;2C43;2CG5 AF302110 AASDHPPT 11 11q22 AASDHPPT HGNC:14235 true hsa:60496 HS14278-MONOMER NP_056238.2:NM_015423.2 Detected in heart, skeletal muscle, placenta, testis, brain, pancreas, liver and kidney. magnesium ion Monomer. Interacts with FASN 2020-06-12T23:07:34Z 2020-07-28T02:30:41Z 0 1 0 5121 CDBP05120 SUMO-activating enzyme subunit 1 Q9UBE0 SAE1_HUMAN true false Enzyme Homo_sapiens SAE1 346 38449.5 4.93 Involved in catalytic activity The heterodimer acts as a E1 ligase for SUMO1, SUMO2, SUMO3, and probably SUMO4. It mediates ATP-dependent activation of SUMO proteins followed by formation of a thioester bond between a SUMO protein and a conserved active site cysteine residue on UBA2/SAE2 ["None"] ["None"] 1Y8R AF046025 4581064 SAE1 Chromosome:1 19q13.32 SAE1 HGNC:30660 true 2020-06-12T23:07:34Z 2020-06-12T23:07:34Z 0 0 0 5122 CDBP05121 Ubiquitin carboxyl-terminal hydrolase 21 Q9UK80 UBP21_HUMAN true false Enzyme Homo_sapiens USP21 565 62655.1 10.37 Involved in ubiquitin thiolesterase activity Deubiquitinates histone H2A, a specific tag for epigenetic transcriptional repression, thereby acting as a coactivator. Deubiquitination of histone H2A releaves the repression of di- and trimethylation of histone H3 at 'Lys-4', resulting in regulation of transcriptional initiation. Regulates gene expression via histone H2A deubiquitination. Also capable of removing NEDD8 from NEDD8 conjugates but has no effect on Sentrin-1 conjugates ["None"] ["None"] AF177758 USP21 Chromosome:1 1q22 USP21 HGNC:12620 true 2020-06-12T23:07:34Z 2020-06-12T23:07:34Z 0 0 0 5123 CDBP05122 Ig lambda-1 chain C regions P0CG04 LAC1_HUMAN true false Enzyme Homo_sapiens IGLC1 106 11347.6 8.05 Involved in antigen binding ["None"] ["None"] 2IG2 X51755 1335154 IGLC1 Chromosome:2 22q11.2 IGLC1 HGNC:5855 true 2020-06-12T23:07:34Z 2020-06-12T23:07:34Z 0 0 0 5124 CDBP05123 Circadian locomoter output cycles protein kaput O15516 CLOCK_HUMAN true false Enzyme Homo_sapiens CLOCK 846 95303.295 6.999 Involved in transcription regulator activity ARNTL/2-CLOCK heterodimers activate E-box element (5'-CACGTG-3') transcription of a number of proteins of the circadian clock. Activates transcription of PER1 and PER2. This transcription is inhibited in a feedback loop by PER and CRY proteins. Has intrinsic histone acetyltransferase activity and this enzymatic function contributes to chromatin-remodeling events implicated in circadian control of gene expression (By similarity). Acetylates primarily histones H3 and H4 (By similarity). Acetylates also a non-histone substrate: ARNTL (By similarity). Plays a role in DNA damage response (DDR) signaling during the S phase. 4H10 NM_004898.2 4758010 CLOCK 4 4q12 CLOCK HGNC:2082 true hsa:9575 NP_001254772.1:NM_001267843.1;NP_004889.1:NM_004898.3 Expressed in all tissues examined including spleen, thymus, prostate, testis, ovary, small intestine, colon, leukocytes, heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Highest levels in testis and skeletal muscle. Low levels in thymus, lung and liver. Expressed in all brain regions with highest levels in cerebellum. Highly expressed in the suprachiasmatic nucleus (SCN). Component of the circadian clock oscillator which includes the CRY proteins, CLOCK or NPAS2, ARNTL or ARNTL2, CSNK1D and/or CSNK1E, TIMELESS and the PER proteins. Efficient DNA binding requires dimerization with another bHLH protein. Heterodimerization with ARNTL is required for E-box-dependent transactivation, for CLOCK nuclear translocation and degradation, and, for phosphorylation of both CLOCK and ARNTL. Interaction with PER and CRY proteins requires translocation to the nucleus. Interaction of the CLOCK-ARNTL heterodimer with PER or CRY inhibits transcription activation. Binds weakly ARNTL and ARNTL2 to form heterodimers which bind poorly to the E-box motif 2020-06-12T23:07:34Z 2020-07-28T02:30:41Z 0 0 1 5125 CDBP05124 Ubiquitin carboxyl-terminal hydrolase 37 Q86T82 UBP37_HUMAN true false Enzyme Homo_sapiens USP37 979 110168.6 6.1 Involved in ubiquitin thiolesterase activity Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C- terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal) ["None"] ["None"] NM_020935.2 188497648 USP37 Chromosome:2 2q35 USP37 HGNC:20063 true 2020-06-12T23:07:34Z 2020-06-12T23:07:34Z 0 0 0 5126 CDBP05125 Ubiquitin-conjugating enzyme E2 D4 Q9Y2X8 UB2D4_HUMAN true false Enzyme Homo_sapiens UBE2D4 147 16648.92 7.365 Involved in acid-amino acid ligase activity Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro able to promote polyubiquitination using all 7 ubiquitin Lys residues, but may prefer 'Lys-11' and 'Lys-48'-linked polyubiquitination. AF125044 4868140 UBE2D4 7 7p13 UBE2D4 HGNC:21647 true hsa:51619 NP_057067.1:NM_015983.3 2020-06-12T23:07:34Z 2020-06-12T23:07:34Z 0 0 0 5127 CDBP05126 Serine/threonine-protein kinase LMTK2 Q8IWU2 LMTK2_HUMAN true false Enzyme Homo_sapiens LMTK2 1503 164898.6 4.09 Involved in protein kinase activity Phosphorylates PPP1C, phosphorylase b and CFTR ["1-26"] ["43-63"] NM_014916.3 38016937 LMTK2 Chromosome:7 7q21.3 LMTK2 HGNC:17880 true 2020-06-12T23:07:34Z 2020-06-12T23:07:34Z 0 0 0 5128 CDBP05127 Tyrosine-protein phosphatase non-receptor type 23 Q9H3S7 PTN23_HUMAN true false Enzyme Homo_sapiens PTPN23 1636 178971.945 6.918 Involved in phosphatase activity May act as a negative regulator of Ras-mediated mitogenic activity. Plays a role in ciliogenesis. 3RAU AB025194 11862816 PTPN23 3 3p21.3 PTPN23 HGNC:14406 true hsa:25930 NP_056281.1:NM_015466.2 Interacts with GRAP2 and GRB2 2020-06-12T23:07:34Z 2020-06-12T23:07:34Z 0 0 0 5129 CDBP05128 N-acetyltransferase ESCO1 Q5FWF5 ESCO1_HUMAN true false Enzyme Homo_sapiens ESCO1 840 94982.2 9.73 Involved in damaged DNA binding Acetyltransferase required for the establishment of sister chromatid cohesion and couple the processes of cohesion and DNA replication to ensure that only sister chromatids become paired together. In contrast to the structural cohesins, the deposition and establishment factors are required only during S phase. Acts by mediating the acetylation of cohesin component SMC3 ["None"] ["None"] NM_052911.2 116235478 ESCO1 Chromosome:1 18q11.2 ESCO1 HGNC:24645 true 2020-06-12T23:07:34Z 2020-06-12T23:07:34Z 0 0 0 5130 CDBP05129 Ubiquitin conjugation factor E4 A Q14139 UBE4A_HUMAN true false Enzyme Homo_sapiens UBE4A 1066 122559.3 4.87 Involved in protein binding Binds to the ubiquitin moieties of preformed conjugates and catalyzes ubiquitin chain assembly in conjunction with E1, E2, and E3 ["None"] ["None"] 1WGM BC111417 111494032 UBE4A Chromosome:1 11q23.3 UBE4A HGNC:12499 true 2020-06-12T23:07:35Z 2020-06-12T23:07:35Z 0 0 0 5131 CDBP05130 Ubiquitin carboxyl-terminal hydrolase 2 O75604 UBP2_HUMAN true false Enzyme Homo_sapiens USP2 605 68071.0 9.17 Involved in ubiquitin thiolesterase activity Hydrolase that deubiquitinates polyubiquitinated target proteins such as MDM2, MDM4 and CCND1. Isoform 1 and isoform 4 possess both ubiquitin-specific peptidase and isopeptidase activities. Deubiquitinates MDM2 without reversing MDM2-mediated p53/TP53 ubiquitination and thus indirectly promotes p53/TP53 degradation and limits p53 activity. Has no deubiquitinase activity against p53/TP53. Prevents MDM2-mediated degradation of MDM4. Plays a role in the G1/S cell-cycle progression in normal and cancer cells. Plays a role in the regulation of myogenic differentiation of embryonic muscle cells ["None"] ["None"] NM_004205.4 188528692 USP2 Chromosome:1 11q23.3 USP2 HGNC:12618 true 2020-06-12T23:07:35Z 2020-06-12T23:07:35Z 0 0 0 5132 CDBP05131 Ubiquitin carboxyl-terminal hydrolase 28 Q96RU2 UBP28_HUMAN true false Enzyme Homo_sapiens USP28 1077 122490.0 4.84 Involved in ubiquitin thiolesterase activity Deubiquitinase involved in DNA damage response checkpoint and MYC proto-oncogene stability. Involved in DNA damage induced apoptosis by specifically deubiquitinating proteins of the DNA damage pathway such as CLSPN. Also involved in G2 DNA damage checkpoint, by deubiquitinating CLSPN, and preventing its degradation by the anaphase promoting complex/cyclosome (APC/C). In contrast, it does not deubiquitinate PLK1. Specifically deubiquitinates MYC in the nucleoplasm, leading to prevent MYC degradation by the proteasome:acts by specifically interacting with isoform 1 of FBXW7 (FBW7alpha) in the nucleoplasm and counteracting ubiquitination of MYC by the SCF(FBW7) complex. In contrast, it does not interact with isoform 4 of FBXW7 (FBW7gamma) in the nucleolus, allowing MYC degradation and explaining the selective MYC degradation in the nucleolus ["None"] ["None"] NM_020886.2 16507200 USP28 Chromosome:1 11q23 USP28 HGNC:12625 true 2020-06-12T23:07:35Z 2020-06-12T23:07:35Z 0 0 0 5133 CDBP05132 14 kDa phosphohistidine phosphatase Q9NRX4 PHP14_HUMAN true false Enzyme Homo_sapiens PHPT1 125 Involved in phosphohistidine phosphatase activity Exhibits phosphohistidine phosphatase activity. 2AI6;2HW4;2NMM;2OZW;2OZX AF164795 8895093 PHPT1 PHPT1 HGNC:30033 true hsa:29085 NP_001129333.1:NM_001135861.1;NP_054891.2:NM_014172.4 Expressed abundantly in heart and skeletal muscle. Monomer 2020-06-12T23:07:35Z 2020-07-28T02:30:42Z 1 0 0 5134 CDBP05133 Ribosomal protein S6 kinase beta-2 Q9UBS0 KS6B2_HUMAN true false Enzyme Homo_sapiens RPS6KB2 482 53454.7 7.37 Involved in protein serine/threonine kinase activity Phosphorylates specifically ribosomal protein S6 ["None"] ["None"] NM_003952.2 55953117 RPS6KB2 Chromosome:1 11q13.2 RPS6KB2 HGNC:10437 true 2020-06-12T23:07:35Z 2020-06-12T23:07:35Z 0 0 0 5135 CDBP05134 Histone acetyltransferase KAT7 O95251 MYST2_HUMAN true false Enzyme Homo_sapiens KAT7 611 66946.78 8.724 Involved in transferase activity, transferring acyl groups other than amino-acyl groups Component of the HBO1 complex which has a histone H4-specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo. Through chromatin acetylation it may regulate DNA replication and act as a coactivator of TP53-dependent transcription. Specifically represses AR-mediated transcription. AF074606 4091980 MYST2 17 17q21.32 MYST2 HGNC:17016 true hsa:11143 NP_001186084.1:NM_001199155.1;NP_001186085.1:NM_001199156.1;NP_001186086.1:NM_001199157.1;NP_001186087.1:NM_001199158.1;NP_008998.1:NM_007067.4 Ubiquitously expressed, with highest levels in testis. Component of the HBO1 complex composed at least of ING4 or ING5, KAT7/HBO1, MEAF6, and one of PHF15, PHF16 and PHF17. Interacts with MCM2 and ORC1L. Interacts with the androgen receptor (AR) in the presence of dihydrotestosterone 2020-06-12T23:07:35Z 2020-07-28T02:30:42Z 0 1 1 5136 CDBP05135 E3 ubiquitin-protein ligase RNF144B Q7Z419 R144B_HUMAN true false Enzyme Homo_sapiens RNF144B 303 33696.2 7.48 Involved in zinc ion binding E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates such as LCMT2, thereby promoting their degradation. Induces apoptosis via a TP53/p53-dependent but caspase-independent mechanism. However, its overexpression also produces a decrease of the ubiquitin-dependent stability of BAX, a pro-apoptotic protein, ultimately leading to protection of cell death; But, it is not an anti-apoptotic protein per se ["None"] ["258-278"] AB076367 21670849 RNF144B Chromosome:6 6p22.3 RNF144B HGNC:21578 true 2020-06-12T23:07:35Z 2020-07-28T02:30:42Z 0 1 0 5137 CDBP05136 Casein kinase I isoform gamma-2 P78368 KC1G2_HUMAN true false Enzyme Homo_sapiens CSNK1G2 415 47456.9 9.42 Involved in protein kinase activity Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling ["None"] ["None"] AB451278 197692257 CSNK1G2 Chromosome:1 19p13.3 CSNK1G2 HGNC:2455 true 2020-06-12T23:07:35Z 2020-06-12T23:07:35Z 0 0 0 5138 CDBP05137 MAP kinase-activated protein kinase 3 Q16644 MAPK3_HUMAN true false Enzyme Homo_sapiens MAPKAPK3 382 42986.7 7.31 Involved in protein kinase activity Modulator of polycomb-mediated repression, which can be activated either by ERK, p38 and JNK. Substrate of CSBP. In vitro, phosphorylates HSPB1, BMI1/PCGF4 and TCF3 ["None"] ["None"] AB451303 197692307 MAPKAPK3 Chromosome:3 3p21.3 MAPKAPK3 HGNC:6888 true 2020-06-12T23:07:35Z 2020-06-12T23:07:35Z 0 0 0 5139 CDBP05138 Glutathione S-transferase theta-2 P0CG29 GST2_HUMAN true false Enzyme Homo_sapiens GSTT2 244 Posttranslational modification, protein turnover, chaperones Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Has a sulfatase activity. AF240786 9937244 GSTT2 GSTT2 HGNC:4642 true Expressed at low levels in liver. In lung, expressed at low levels in ciliated bronchiolar cells, alveolar macrophages and alveolar type II cells. Homodimer 2020-06-12T23:07:35Z 2020-06-12T23:07:35Z 0 0 0 5140 CDBP05139 Ubiquitin carboxyl-terminal hydrolase 20 Q9Y2K6 UBP20_HUMAN true false Enzyme Homo_sapiens USP20 914 102002.2 6.03 Involved in ubiquitin thiolesterase activity Deubiquitinating enzyme involved in beta-2 adrenergic receptor (ADRB2) recycling. Acts as a regulator of G-protein coupled receptor (GPCR) signaling by mediating the deubiquitination beta-2 adrenergic receptor (ADRB2). Plays a central role in ADRB2 recycling and resensitization after prolonged agonist stimulation by constitutively binding ADRB2, mediating deubiquitination of ADRB2 and inhibiting lysosomal trafficking of ADRB2. Upon dissociation, it is probably transferred to the translocated beta-arrestins, possibly leading to beta-arrestins deubiquitination and disengagement from ADRB2. This suggests the existence of a dynamic exchange between the ADRB2 and beta-arrestins. Deubiquitinates DIO2, thereby regulating thyroid hormone regulation. Deubiquitinates HIF1A, leading to stabilize HIF1A and enhance HIF1A-mediated activity. Mediates deubiquitination of both 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains ["None"] ["None"] NM_001008563.3 183397136 USP20 Chromosome:9 9q34.11 USP20 HGNC:12619 true 2020-06-12T23:07:35Z 2020-07-28T02:30:42Z 0 1 0 5141 CDBP05140 S-acyl fatty acid synthase thioesterase, medium chain Q9NV23 SAST_HUMAN true false Enzyme Homo_sapiens OLAH 265 29930.82 6.223 Involved in biosynthetic process In fatty acid biosynthesis chain termination and release of the free fatty acid product is achieved by hydrolysis of the thio ester by a thioesterase I, a component of the fatty acid synthetase complex. The chain length of the released fatty acid is usually C16. However, in the mammary glands of non-ruminant mammals, and in the uropygial gland of certain waterfowl there exists a second thioesterase which releases medium-chain length fatty acids (C8 to C2) (By similarity). AK001844 7023364 OLAH 10 10p13 OLAH HGNC:25625 true hsa:55301 NP_001034791.1:NM_001039702.2;NP_060794.1:NM_018324.2 Isoform 2 is up-regulated in bone marrow-derived mononuclear cells of rheumatoid arthritis patients. 2020-06-12T23:07:35Z 2020-06-12T23:07:35Z 0 0 0 5142 CDBP05141 Ubiquitin carboxyl-terminal hydrolase 25 Q9UHP3 UBP25_HUMAN true false Enzyme Homo_sapiens USP25 1055 122216.8 5.01 Involved in ubiquitin thiolesterase activity The muscle-specific isoform (USP25m) may have a role in the regulation of muscular differentiation and function ["None"] ["None"] 1VDL AF134213 6693824 USP25 Chromosome:2 21q11.2 USP25 HGNC:12624 true 2020-06-12T23:07:35Z 2020-06-12T23:07:35Z 0 0 0 5143 CDBP05142 Lactadherin Q08431 MFGM_HUMAN true false Enzyme Homo_sapiens MFGE8 387 43122.7 8.21 Involved in cell adhesion Medin is the main constituent of aortic medial amyloid ["1-23"] ["None"] AK222735 62897029 MFGE8 Chromosome:1 15q25 MFGE8 HGNC:7036 true 2020-06-12T23:07:35Z 2020-06-12T23:07:35Z 0 0 0 5144 CDBP05143 Probable DNA dC->dU-editing enzyme APOBEC-3A P31941 false false Metal Binding APOBEC3A 23011.83 6.843 Single-stranded DNA cytidine deaminase involved in foreign DNA clearance. May trigger C-to-U hypermutation in exogenous DNA leading to its degradation. Provides cellular innate resistance to a specific panel of genetic invaders including endogenous retroelements and a subset of viruses. May have a preference for cytidines in a C-C sequence context. May also play a role in the epigenetic regulation of gene expression through the process of active DNA demethylation. 22 22q13.1-q13.2 HGNC:17343 true hsa:200315 NP_001180218.1:NM_001193289.1;NP_663745.1:NM_145699.3 Expressed in peripheral leukocytes with higher expression in CD14-positive phagocytic cells. Also detected in non-lymphoid tissues including lung and adipose tissues. Also detected in keratinocytes. Zinc 2020-06-12T23:07:35Z 2020-07-28T02:32:05Z 0 1 0 5145 CDBP05144 Probable DNA dC->dU-editing enzyme APOBEC-3B Q9UH17 false false Metal Binding APOBEC3B 43107.7 5.913 Probable DNA cytidine deaminase involved in foreign DNA clearance. May provide cellular innate resistance to a specific panel of genetic invaders including endogenous retroelements and a subset of viruses. Binds to apoB and AU-rich RNAs. 22 22q13.1-q13.2 HGNC:17352 true hsa:9582 NP_001257340.1:NM_001270411.1;NP_004891.4:NM_004900.4 Expressed at high and moderate levels in peripheral blood leukocytes, spleen, testes, heart, thymus, prostate and ovary. Also expressed at low levels in several other tissues. Zinc Homodimer. Interacts with APOBEC3G. Does not interact with APOBEC1 2020-06-12T23:07:35Z 2020-07-28T02:32:05Z 0 1 0 5146 CDBP05145 Probable DNA dC->dU-editing enzyme APOBEC-3C Q9NRW3 false false Metal Binding APOBEC3C 22825.725 7.59 Host cellular restriction factor that may have antiviral activities against exogenous and endogenous viruses, as well as retrotransposons. May also play a role in the epigenetic regulation of gene expression through the process of active DNA demethylation. 3VM8;3VOW 22 22q13.1 HGNC:17353 true hsa:27350 NP_055323.2:NM_014508.2 Expressed in spleen, testes, peripherical blood lymphocytes, heart, thymus, prostate and ovary. Zinc Interacts with human foamy virus protein Bet; this interaction does not induce APOBEC3C degradation, but prevents dimerization and incorporation into virion of the latter 2020-06-12T23:07:35Z 2020-07-28T02:32:05Z 0 1 0 5147 CDBP05146 Probable DNA dC->dU-editing enzyme APOBEC-3D Q96AK3 false false Metal Binding APOBEC3D 46598.035 8.394 Probable DNA cytidine deaminase involved in foreign DNA clearance. May provide cellular innate resistance to a specific panel of genetic invaders including endogenous retroelements and a subset of viruses. 22 22q13.1 HGNC:17354 true hsa:140564 NP_689639.2:NM_152426.3 Expressed in lymphoid organs. Also detected in non-lymphoid tissues including lung. Zinc 2020-06-12T23:07:35Z 2020-07-28T02:32:05Z 0 1 0 5148 CDBP05147 DNA dC->dU-editing enzyme APOBEC-3F Q8IUX4 false false Metal Binding APOBEC3F 11822.52 11.133 Host cellular restriction factor that may have antiviral activities against exogenous and endogenous viruses, as well as retrotransposons. After being packaged into HIV-1 virions, blocks productive infection by massively editing dC residues to dU on the DNA minus strand during reverse transcription. The editing of the minus strand DNA of HIV-1 during reverse transcription leads to G-to-A transitions in the plus strand. The inhibition of viral replication is either due to the degradation of the minus strand before its integration or to the lethality of the hypermutations. May also play a role in the epigenetic regulation of gene expression through the process of active DNA demethylation. 22 22q13.1 HGNC:17356 true hsa:200316 NP_001006667.1:NM_001006666.1;NP_660341.2:NM_145298.5 Widely expressed. Highly expressed in ovary. Zinc Forms heterodimers with APOBEC3G. Binds HIV-1 Vif. In the absence of Vif protein, specifically packaged into HIV-1 virions 2020-06-12T23:07:35Z 2020-07-28T02:32:06Z 0 1 0 5149 CDBP05148 DNA dC->dU-editing enzyme APOBEC-3G Q9HC16 false false Metal Binding APOBEC3G 11822.52 11.133 DNA deaminase (cytidine deaminase) that mediates a form of innate resistance to retroviral infections (at least to HIV-1 infection) by triggering G-to-A hypermutation in the newly synthesized viral DNA. The replacements C-to-U in the minus strand DNA of HIV-1 during reverse transcription, leads to G-to-A transitions in the plus strand. The inhibition of viral replication is either due to the degradation of the minus strand before its integration or to the lethality of the hypermutations. Modification of both DNA strands is not excluded. This antiviral activity is neutralized by the virion infectivity factor (VIF), that prevents the incorporation of APOBEC3G into progeny HIV-1 virions by both inhibiting its translation and/or by inducing its ubiquitination and subsequent degradation by the 26S proteasome. May also prevent the transposition of a subset of retroelements. Binds a variety of RNAs, but does not display detectable APOB, NF1 and NAT1 mRNA editing. 2JYW;2KBO;2KEM;3E1U;3IQS;3IR2;3V4J;3V4K 22 22q13.1-q13.2 HGNC:17357 true hsa:60489 NP_001006667.1:NM_001006666.1;NP_068594.1:NM_021822.3 Expressed in spleen, testes, ovary and peripheral blood leukocytes and CD4+ lymphocytes. Also expressed in non-permissive peripheral blood mononuclear cells, and several tumor cell lines; no expression detected in permissive lymphoid and non-lymphoid cell lines. Zinc Homodimer. Interacts with APOBEC3B, APOBEC3F and HIV-1 VIF in a species specific manner 2020-06-12T23:07:35Z 2020-07-28T02:32:06Z 0 1 0 5150 CDBP05149 Monoacylglycerol lipase ABHD12 Q8N2K0 true false Enzyme ABHD12 Has 2-arachidonoylglycerol hydrolase activity (By similarity). May be a regulator of endocannabinoid signaling pathways (By similarity). HGNC:15868 true hsa:26090 NP_001035937.1:NM_001042472.2;NP_056415.1:NM_015600.4 2020-06-12T23:07:35Z 2020-07-28T02:30:43Z 0 0 0 5151 CDBP05150 1-acylglycerol-3-phosphate O-acyltransferase ABHD5 Q8WTS1 true false Enzyme ABHD5 39095.34 6.615 Lysophosphatidic acid acyltransferase which functions in phosphatidic acid biosynthesis. May regulate the cellular storage of triacylglycerol through activation of the phospholipase PNPLA2. Involved in keratinocyte differentiation. 3 3p21 HGNC:21396 true hsa:51099 NP_057090.2:NM_016006.4 Widely expressed in various tissues, including lymphocytes, liver, skeletal muscle and brain. Expressed by upper epidermal layers and dermal fibroblasts in skin, hepatocytes and neurons (at protein level). Interacts with ADRP, PLIN and PNPLA2 2020-06-12T23:07:35Z 2020-07-28T02:30:43Z 0 0 0 5152 CDBP05151 Monoacylglycerol lipase ABHD6 Q9BV23 true false Enzyme ABHD6 Has 2-arachidonoylglycerol hydrolase activity (By similarity). May be a regulator of endocannabinoid signaling pathways (By similarity). HGNC:21398 true hsa:57406 NP_065727.4:NM_020676.5 2020-06-12T23:07:35Z 2020-07-28T02:30:43Z 0 0 0 5153 CDBP05152 Mycophenolic acid acyl-glucuronide esterase, mitochondrial Q9NUJ1 true false Enzyme ABHD10 33932.165 8.578 Catalyzes the deglucuronidation of mycophenolic acid acyl-glucuronide, a metabolite of the immunosuppressant drug mycophenolate. 3 3q13.2 HGNC:25656 true hsa:55347 ENSG00000144827-MONOMER NP_060864.1:NM_018394.2 2020-06-12T23:07:35Z 2020-07-28T02:30:43Z 0 0 0 5154 CDBP05153 Acyl-coenzyme A thioesterase THEM5 Q8N1Q8 true false Enzyme THEM5 27662.51 7.716 Has acyl-CoA thioesterase activity towards long-chain (C16 and C18) fatty acyl-CoA substrates, with a preference for linoleyl-CoA and other unsaturated long-chain fatty acid-CoA esters. Plays an important role in mitochondrial fatty acid metabolism, and in remodeling of the mitochondrial lipid cardiolipin. Required for normal mitochondrial function. 4AE7 1 1q21.3 HGNC:26755 true hsa:284486 NP_872384.1:NM_182578.3 Homodimer 2020-06-12T23:07:35Z 2020-07-28T02:30:43Z 0 0 0 5155 CDBP05154 Acyl-CoA synthetase short-chain family member 3, mitochondrial Q9H6R3 true false Enzyme ACSS3 74777.655 8.638 Activates acetate so that it can be used for lipid synthesis or for energy generation (By similarity). 12 12q21.31 HGNC:24723 true hsa:79611 NP_078836.1:NM_024560.2 2020-06-12T23:07:35Z 2020-07-28T02:30:43Z 0 0 0 5156 CDBP05155 Manganese-dependent ADP-ribose/CDP-alcohol diphosphatase Q3LIE5 true false Enzyme ADPRM 39529.105 5.588 Hydrolyzes ADP-ribose, IDP-ribose, CDP-glycerol, CDP-choline and CDP-ethanolamine, but not other non-reducing ADP-sugars or CDP-glucose. May be involved in immune cell signaling as suggested by the second-messenger role of ADP-ribose, which activates TRPM2 as a mediator of oxidative/nitrosative stress (By similarity). 17 17p13.1 HGNC:30925 true hsa:56985 NP_064618.3:NM_020233.4 Magnesium Monomer 2020-06-12T23:07:35Z 2020-07-28T02:30:43Z 0 1 0 5157 CDBP05156 Hydroxylysine kinase A2RU49 true false Enzyme AGPHD1 41932.82 6.843 Catalyzes the GTP-dependent phosphorylation of 5-hydroxy-L-lysine. 15 15q25.1 HGNC:34403 true hsa:123688 NP_001013641.2:NM_001013619.2;NP_001077081.1:NM_001083612.1 2020-06-12T23:07:35Z 2020-07-28T02:30:43Z 0 0 0 5158 CDBP05157 Activation-induced cytidine deaminase Q9GZX7 true false Enzyme AICDA 23953.265 9.394 Single-stranded DNA-specific cytidine deaminase. Involved in somatic hypermutation, gene conversion, and class-switch recombination in B-lymphocytes. Required for several crucial steps of B-cell terminal differentiation necessary for efficient antibody responses. May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation. 12 12p13 HGNC:13203 true hsa:57379 NP_065712.1:NM_020661.2 Strongly expressed in lymph nodes and tonsils. Zinc Interacts with CTNNBL1; the interaction is important for the immunoglobulin switch activity of AICDA. Interacts (via its NLS) with KPNA1 2020-06-12T23:07:35Z 2020-07-28T02:30:43Z 0 1 0 5159 CDBP05158 Aldo-keto reductase family 1 member B10 O60218 true false Enzyme AKR1B10 Acts as all-trans-retinaldehyde reductase. Can efficiently reduce aliphatic and aromatic aldehydes, and is less active on hexoses (in vitro). May be responsible for detoxification of reactive aldehydes in the digested food before the nutrients are passed on to other organs. 1ZUA HGNC:382 true hsa:57016 NP_064695.3:NM_020299.4 Found in many tissues. Highly expressed in small intestine, colon and adrenal gland. 2020-06-12T23:07:35Z 2020-07-28T02:30:43Z 0 0 0 5160 CDBP05159 1,5-anhydro-D-fructose reductase Q96JD6 true false Enzyme AKR1E2 36588.935 7.493 Catalyzes the NADPH-dependent reduction of 1,5-anhydro-D-fructose (AF) to 1,5-anhydro-D-glucitol. Can also catalyze the reduction of various aldehydes and quinones (By similarity). Has low NADPH-dependent reductase activity towards 9,10-phenanthrenequinone (in vitro). 10 10p15.1 HGNC:23437 true hsa:83592 MONOMER-17140 NP_001035267.1:NM_001040177.2;NP_001257950.1:NM_001271021.1;NP_001257954.1:NM_001271025.1 Testis-specific. 2020-06-12T23:07:35Z 2020-07-28T02:30:43Z 0 0 0 5161 CDBP05160 GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase Q2TAA5 true false Enzyme ALG11 55650.595 8.489 Mannosyltransferase involved in the last steps of the synthesis of Man5GlcNAc(2)-PP-dolichol core oligosaccharide on the cytoplasmic face of the endoplasmic reticulum. Catalyzes the addition of the 4th and 5th mannose residues to the dolichol-linked oligosaccharide chain. 13 13q14.2 HGNC:32456 true hsa:440138 NP_001004127.2:NM_001004127.2 2020-06-12T23:07:35Z 2020-07-28T02:30:43Z 0 0 0 5162 CDBP05161 Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase Q9BV10 true false Enzyme ALG12 54654.195 9.586 Adds the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. 22 22q13.33 HGNC:19358 true hsa:79087 NP_077010.1:NM_024105.3 Expressed in fibroblasts. 2020-06-12T23:07:35Z 2020-07-28T02:30:43Z 0 0 0 5163 CDBP05162 Alpha-1,2-mannosyltransferase ALG9 Q9H6U8 true false Enzyme ALG9 69862.66 8.677 Catalyzes the transfer of mannose from Dol-P-Man to lipid-linked oligosaccharides. 11 11q23 HGNC:15672 true hsa:79796 NP_001071158.1:NM_001077690.1;NP_001071159.1:NM_001077691.1;NP_001071160.1:NM_001077692.1;NP_079016.2:NM_024740.2 Ubiquitously expressed; with highest levels in heart, liver and pancreas. 2020-06-12T23:07:35Z 2020-07-28T02:30:43Z 0 0 0 5164 CDBP05163 Alkylated DNA repair protein alkB homolog 1 Q13686 false false Enzyme ALKBH1 43831.39 7.077 Dioxygenase that repairs alkylated single-stranded DNA and RNA containing 3-methylcytosine by oxidative demethylation. Requires molecular oxygen, alpha-ketoglutarate and iron. May have a role in placental trophoblast lineage differentiation (By similarity). Has DNA lyase activity and introduces double-stranded breaks at abasic sites. Cleaves both single-stranded DNA and double-stranded DNA at abasic sites, with the greatest activity towards double-stranded DNA with two abasic sites. DNA lyase activity does not require alpha-ketoglutarate and iron. 14 14q24.3 HGNC:17911 true hsa:8846 NP_006011.2:NM_006020.2 Ubiquitous. Fe(2+) ion Monomer. Interacts with DNAJB6 2020-06-12T23:07:35Z 2020-07-28T02:34:31Z 0 0 0 5165 CDBP05164 Alkylated DNA repair protein alkB homolog 8 Q96BT7 false false Metal Binding ALKBH8 75207.875 7.987 Catalyzes the methylation of 5-carboxymethyl uridine to 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in tRNA. Catalyzes the last step in the formation of 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in target tRNA. Has a preference for tRNA(Arg) and tRNA(Glu), and does not bind tRNA(Lys). Required for normal survival after DNA damage. May inhibit apoptosis and promote cell survival and angiogenesis. 2CQ2;3THP;3THT 11 11q22.3 HGNC:25189 true hsa:91801 NP_620130.2:NM_138775.2 Widely expressed, with highest expression in spleen, followed by pancreas and lung. Interacts with TRMT112 2020-06-12T23:07:35Z 2020-07-28T02:32:06Z 0 1 0 5166 CDBP05165 Alkylglycerol monooxygenase Q6ZNB7 true false Enzyme AGMO 51499.41 7.919 Glyceryl-ether monooxygenase that cleaves the O-alkyl bond of ether lipids. Ether lipids are essential components of brain membranes. 7 7p21.2 HGNC:33784 true hsa:392636 NP_001004320.1:NM_001004320.1 Iron 2020-06-12T23:07:35Z 2020-07-28T02:30:44Z 0 0 0 5167 CDBP05166 Protein arginine N-methyltransferase 1 Q99873 true false Enzyme PRMT1 42461.28 5.346 Arginine methyltransferase that methylates (mono and asymmetric dimethylation) the guanidino nitrogens of arginyl residues present in proteins such as ESR1, histone H2, H3 and H4, PIAS1, HNRNPA1, HNRNPD, NFATC2IP, SUPT5H, TAF15 and EWS. Constitutes the main enzyme that mediates monomethylation and asymmetric dimethylation of histone H4 'Arg-4' (H4R3me1 and H4R3me2a, respectively), a specific tag for epigenetic transcriptional activation. Together with dimethylated PIAS1, represses STAT1 transcriptional activity, in the late phase of interferon gamma (IFN-gamma) signaling. May be involved in the regulation of TAF15 transcriptional activity, act as an activator of estrogen receptor (ER)-mediated transactivation, play a key role in neurite outgrowth and act as a negative regulator of megakaryocytic differentiation, by modulating p38 MAPK pathway. Methylates FOXO1 and retains it in the nucleus increasing its transcriptional acivity. 19 19q13.3 HGNC:5187 true hsa:3276 NP_001527.3:NM_001536.5;NP_938074.2:NM_198318.4 Widely expressed. Homodimer and heterodimer with PRMT8. Individual homodimers can associate to form a homohexamer. Interacts with BTG1, BTG2, NFATC2IP and IFNAR1 . Interacts with and methylates CHTOP, thereby enabling the interaction of CHTOP with the 5FMC complex (By similarity). Interacts with ILF3 and SUPT5H. Interacts with and methylates FOXO1, leading to the nuclear retention of FOXO1 and the stimulation of FOXO1 transcriptional activity. Methylation of FOXO1 is increased upon oxidative stress 2020-06-12T23:07:35Z 2020-07-28T02:30:44Z 1 0 0 5168 CDBP05167 Protein arginine N-methyltransferase 2 P55345 true false Enzyme PRMT2 37166.79 5.235 Arginine methyltransferase that methylates the guanidino nitrogens of arginyl residues in proteins such as STAT3, FBL, histone H4. Acts as a coactivator (with NCOA2) of the androgen receptor (AR)-mediated transactivation. Acts as a coactivator (with estrogen) of estrogen receptor (ER)-mediated transactivation. Enhances PGR, PPARG, RARA-mediated transactivation. May inhibit NF-kappa-B transcription and promote apoptosis. Represses E2F1 transcriptional activity (in a RB1-dependent manner). May be involved in growth regulation. 1X2P 21 21q22.3 HGNC:5186 true hsa:3275 NP_001229793.1:NM_001242864.1;NP_001229794.1:NM_001242865.1;NP_001526.2:NM_001535.3;NP_996845.1:NM_206962.2 Widely expressed. Highly expressed in androgen target organs such as heart, prostate, skeletal muscle, ovary and spinal cord. Self-associates. Interacts with RB1 and E2F1 . Interacts with NCOA6 coactivator. Interacts (via SH3 domain) with PRMT8. Interacts with AR. Interacts with NFKBIA. Interacts with ESR1, ESR2, PGR, PPARG, RARA, RXRA and THRB. Interacts with HNRNPUL1 2020-06-12T23:07:35Z 2020-07-28T02:30:44Z 1 0 1 5169 CDBP05168 Protein arginine N-methyltransferase 6 Q96LA8 true false Enzyme PRMT6 41937.22 5.436 Arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and asymmetrical dimethylarginine (aDMA), with a strong preference for the formation of aDMA. Preferentially methylates arginyl residues present in a glycine and arginine-rich domain and displays preference for monomethylated substrates. Specifically mediates the asymmetric dimethylation of histone H3 'Arg-2' to form H3R2me2a. H3R2me2a represents a specific tag for epigenetic transcriptional repression and is mutually exclusive with methylation on histone H3 'Lys-4' (H3K4me2 and H3K4me3). It thereby acts as a transcription corepressor of various genes such as HOXA2. Also methylates histone H2A and H4 'Arg-3' (H2AR3me and H4R3me, respectively). Acts as a regulator of DNA base excision during DNA repair by mediating the methylation of DNA polymerase beta (POLB), leading to stimulate the polymerase activity by enhancing DNA binding and processivity. Methylates HMGA1. May play a role in innate immunity against HIV-1 in case of infection by methylating and impairing the function of various HIV-1 proteins such as Tat, Rev and Nucleocapsid protein p7 (NC). 4HC4 1 1p13.3 HGNC:18241 true hsa:55170 NP_060607.2:NM_018137.2 Highly expressed in kidney and testis. Interacts with (and methylates) HIV-1 Tat, Rev and Nucleocapsid protein p7 (NC) 2020-06-12T23:07:35Z 2020-07-28T02:30:44Z 0 0 1 5170 CDBP05169 Protein arginine N-methyltransferase 7 Q9NVM4 true false Enzyme PRMT7 73153.495 5.457 Arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and symmetrical dimethylarginine (sDMA), with a preference for the formation of MMA. Specifically mediates the symmetrical dimethylation of arginine residues in the small nuclear ribonucleoproteins Sm D1 (SNRPD1) and Sm D3 (SNRPD3); such methylation being required for the assembly and biogenesis of snRNP core particles. Specifically mediates the symmetric dimethylation of histone H4 'Arg-3' to form H4R3me2s. Plays a role in gene imprinting by being recruited by CTCFL at the H19 imprinted control region (ICR) and methylating histone H4 to form H4R3me2s, possibly leading to recruit DNA methyltransferases at these sites. May also play a role in embryonic stem cell (ESC) pluripotency. Also able to mediate the arginine methylation of histone H2A and myelin basic protein (MBP) in vitro; the relevance of such results is however unclear in vivo. 16 16q22.1 HGNC:25557 true hsa:54496 NP_001171753.1:NM_001184824.1;NP_061896.1:NM_019023.2 Homodimer and heterodimer . Interacts with CTCFL (By similarity). Interacts with PRMT5 and SNRPD3 2020-06-12T23:07:35Z 2020-07-28T02:30:44Z 0 0 1 5171 CDBP05170 Helicase ARIP4 Q9Y4B4 true false Enzyme RAD54L2 162767.3 6.089 DNA helicase that modulates androgen receptor (AR)-dependent transactivation in a promoter-dependent manner. Not able to remodel mononucleosomes in vitro (By similarity). 3 3p21.2 HGNC:29123 true hsa:23132 NP_055921.2:NM_015106.2 Interacts with AR via its N-terminus. Interacts with DYRK1A. Binds DNA and mononucleosomes, but does not seem to form large multiprotein complexes 2020-06-12T23:07:35Z 2020-07-28T02:30:44Z 0 0 1 5172 CDBP05171 Activating signal cointegrator 1 complex subunit 3 Q8N3C0 false false Transcription Factor ASCC3 251458.205 7.099 3'-5' DNA helicase involved in repair of alkylated DNA. Promotes DNA unwinding to generate single-stranded substrate needed for ALKHB3, enabling ALKHB3 to process alkylated N3-methylcytosine (3mC) within double-stranded regions. Enhances NF-kappa-B, SRF and AP1 transactivation. 6 6q16 HGNC:18697 true hsa:10973 NP_006819.2:NM_006828.2;NP_071374.1:NM_022091.3 Ubiquitous. Part of TRIP4 complex, that contains ASCC1, ASCC2 and ASCC3. The TRIP4 complex interacts with ALKBH3 2020-06-12T23:07:35Z 2020-07-28T02:32:07Z 0 0 1 5173 CDBP05172 Probable cation-transporting ATPase 13A1 Q9HD20 true false Enzyme ATP13A1 132953.465 8.139 19 19p13.11 HGNC:24215 true hsa:57130 NP_065143.2:NM_020410.2 2020-06-12T23:07:35Z 2020-07-28T02:30:44Z 0 1 0 5174 CDBP05173 Probable cation-transporting ATPase 13A2 Q9NQ11 true false Enzyme ATP13A2 128321.79 8.124 May play a role in intracellular cation homeostasis and the maintenance of neuronal integrity. 1 1p36 HGNC:30213 true hsa:23400 NP_001135445.1:NM_001141973.1;NP_001135446.1:NM_001141974.1;NP_071372.1:NM_022089.2 Expressed in brain; protein levels are markedly increased in brain from subjects with Parkinson disease and subjects with dementia with Lewy bodies. Detected in pyramidal neurons located throughout the cingulate cortex (at protein level). In the substantia nigra, it is found in neuromelanin-positive dopaminergic neurons (at protein level). 2020-06-12T23:07:35Z 2020-07-28T02:30:44Z 0 1 0 5175 CDBP05174 Probable cation-transporting ATPase 13A3 Q9H7F0 true false Enzyme ATP13A3 138041.655 6.646 3 3q29 HGNC:24113 true hsa:79572 NP_078800.3:NM_024524.3 2020-06-12T23:07:35Z 2020-07-28T02:30:44Z 0 1 0 5176 CDBP05175 Probable cation-transporting ATPase 13A4 Q4VNC1 true false Enzyme ATP13A4 133985.395 6.703 3 3q29 HGNC:25422 true hsa:84239 NP_115655.2:NM_032279.2 Expressed in heart, placenta, liver, skeletal muscles, and pancreas. Lower levels of expression are also detected in brain, lung and kidney. Weakly expressed in the adult brain. Expression in fetal brain is higher than in adult brain, with levels similar to several other fetal tissues including spleen and skeletal muscle. In adult brain expressed at low levels in all tissues examined, including the temporal lobe and putamen. 2020-06-12T23:07:35Z 2020-07-28T02:30:44Z 0 1 0 5177 CDBP05176 Probable cation-transporting ATPase 13A5 Q4VNC0 true false Enzyme ATP13A5 137325.645 7.898 3 3q29 HGNC:31789 true hsa:344905 NP_940907.2:NM_198505.2 2020-06-12T23:07:35Z 2020-07-28T02:30:44Z 0 1 0 5178 CDBP05177 ATPase family AAA domain-containing protein 1 Q8NBU5 true false Enzyme ATAD1 40743.65 6.907 ATPase that plays a critical role in regulating the surface expression of AMPA receptors (AMPAR), thereby regulating synaptic plasticity and learning and memory. Required for NMDA-stimulated AMPAR internalization and inhibition of GRIA1 and GRIA2 recycling back to the plasma membrane; these activities are ATPase-dependent (By similarity). 10 10q23.31 HGNC:25903 true hsa:84896 NP_116199.2:NM_032810.2 Interacts with GRIA2 and GRIP1 in an ATP-dependent manner. ATAD1-catalyzed ATP hydrolysis disrupts not only its binding to GRIA2 and GRIP1, but also interaction between GRIP1 and GRIA2, leading to AMPAR complex disassembly 2020-06-12T23:07:35Z 2020-07-28T02:30:44Z 1 0 0 5179 CDBP05178 ATPase family AAA domain-containing protein 2 Q6PL18 true false Enzyme ATAD2 158552.525 6.32 May be a transcriptional coactivator of the nuclear receptor ESR1 required to induce the expression of a subset of estradiol target genes, such as CCND1, MYC and E2F1. May play a role in the recruitment or occupancy of CREBBP at some ESR1 target gene promoters. May be required for histone hyperacetylation. Involved in the estrogen-induced cell proliferation and cell cycle progression of breast cancer cells. 3DAI 8 8q24.13 HGNC:30123 true hsa:29028 NP_054828.2:NM_014109.3 Highly expressed in estrogen receptor positive breast tumors and in osteosarcoma tumors. Interacts with ESR1 and NCOA3 and these interactions are enhanced by estradiol. Interacts with acetylated lysine residues on histone H1.4, H2A, H2B and H3 (in vitro) 2020-06-12T23:07:35Z 2020-07-28T02:30:44Z 0 0 1 5180 CDBP05179 Alpha-tubulin N-acetyltransferase Q5SQI0 true false Enzyme ATAT1 45573.35 9.69 Specifically acetylates 'Lys-40' in alpha-tubulin on the lumenal side of microtubules. May affect microtubule stability and regulate microtubule dynamics. May be involved in neuron development. 4B5O;4B5P;4GS4 6 6p21.33 HGNC:21186 true hsa:79969 NP_001026892.1:NM_001031722.2;NP_001241881.1:NM_001254952.1;NP_079185.2:NM_024909.2 2020-06-12T23:07:35Z 2020-07-28T02:30:44Z 0 0 0 5181 CDBP05180 Dual specificity protein phosphatase CDC14C A4D256 true false Enzyme CDC14C Dual-specificity phosphatase. Preferentially dephosphorylates proteins modified by proline-directed kinases (By similarity). HGNC:22427 true 2020-06-12T23:07:35Z 2020-07-28T02:30:44Z 0 0 0 5182 CDBP05181 Adenosine deaminase CECR1 Q9NZK5 true false Enzyme CECR1 58933.1 7.907 Adenosine deaminase that may contribute to the degradation of extracellular adenosine, a signaling molecule that controls a variety of cellular responses. Requires elevated adenosine levels for optimal enzyme activity. Binds to cell surfaces via proteoglycans and may play a role in the regulation of cell proliferation and differentiation, independently of its enzyme activity. 3LGD;3LGG 22 22q11.2 HGNC:1839 true hsa:51816 NP_059120.2:NM_017424.2;NP_803124.1:NM_177405.1 Detected in blood plasma (at protein level). Widely expressed, with most abundant expression in human adult heart, lung, lymphoblasts, and placenta as well as fetal lung, liver, and kidney. In embryo, expressed in the outflow tract and atrium of the developing heart, the VII/VIII cranial nerve ganglion, and the notochord. zinc ion Homodimer. Interacts with adenosine receptors. Binds heparin 2020-06-12T23:07:35Z 2020-07-28T02:30:44Z 1 1 0 5183 CDBP05182 Ceramide synthase 2 Q96G23 true false Enzyme CERS2 Suppresses the growth of cancer cells. May be involved in sphingolipid synthesis. HGNC:14076 true hsa:29956 NP_071358.1:NM_022075.4;NP_859530.1:NM_181746.3 Expressed in kidney, liver, brain, heart, placenta and lung. Interacts with ATP6V0C, ASGR1, ASGR2 and SLC22A1/OCT1. Interacts with ELOV1, HSD17B12 and TECR 2020-06-12T23:07:35Z 2020-07-28T02:30:44Z 0 0 1 5184 CDBP05183 Ceramide synthase 3 Q8IU89 true false Enzyme CERS3 May be involved in sphingolipid synthesis or its regulation (By similarity). HGNC:23752 true hsa:204219 NP_849164.2:NM_178842.3 2020-06-12T23:07:35Z 2020-07-28T02:30:44Z 0 0 1 5185 CDBP05184 Ceramide synthase 4 Q9HA82 true false Enzyme CERS4 May be either a bona fide (dihydro)ceramide synthase or a modulator of its activity. When overexpressed in cells is involved in the production of sphingolipids containing different fatty acid donors (N-linked stearoyl- (C18) or arachidoyl- (C20) ceramides) in a fumonisin B1-independent manner (By similarity). HGNC:23747 true hsa:79603 NP_078828.2:NM_024552.2 2020-06-12T23:07:35Z 2020-07-28T02:30:44Z 0 0 1 5186 CDBP05185 Ceramide synthase 6 Q6ZMG9 true false Enzyme CERS6 May be involved in sphingolipid synthesis or its regulation (By similarity). HGNC:23826 true hsa:253782 NP_001243055.1:NM_001256126.1;NP_982288.1:NM_203463.2 2020-06-12T23:07:35Z 2020-07-28T02:30:45Z 0 0 1 5187 CDBP05186 Cyclic GMP-AMP synthase Q8N884 true false Enzyme MB21D1 58813.885 9.488 Nucleotidyltransferase that catalyzes formation of cyclic GMP-AMP (cGAMP) from ATP and GTP and exhibits antiviral activity. Has antiviral activity by acting as a key cytosolic DNA sensor, the presence of DNA in the cytoplasm being a danger signal that triggers the immune responses. Binds cytosolic DNA directly, leading to activation and synthesis of cGAMP, a second messenger that binds to and activates TMEM173/STING, thereby triggering type-I interferon production. 6 6q13 HGNC:21367 true hsa:115004 NP_612450.2:NM_138441.2 Expressed in the monocytic cell line THP1. 2020-06-12T23:07:35Z 2020-07-28T02:30:45Z 0 0 0 5188 CDBP05187 Chitinase-3-like protein 1 P36222 true false Enzyme CHI3L1 Carbohydrate-binding lectin with a preference for chitin. May play a role in defense against pathogens, or in tissue remodeling. May play an important role in the capacity of cells to respond to and cope with changes in their environment. 1HJV;1HJW;1HJX;1LA7;1NWR;1NWS;1NWT;1NWU HGNC:1932 true hsa:1116 NP_001267.2:NM_001276.2 Present in activated macrophages, articular chondrocytes, synovial cells as well as in liver. Undetectable in muscle tissues, lung, pancreas, mononuclear cells, or fibroblasts. Monomer 2020-06-12T23:07:35Z 2020-07-28T02:30:45Z 0 0 0 5189 CDBP05188 Chitinase-3-like protein 2 Q15782 true false Enzyme CHI3L2 Lectin that binds chitooligosaccharides and other glycans with high affinity, but not heparin. Has no chitinase activity. 4AY1 HGNC:1933 true hsa:1117 NP_001020368.1:NM_001025197.1;NP_001020370.1:NM_001025199.1;NP_003991.2:NM_004000.2 Highest expression in chondrocytes, followed by synoviocytes, lung and heart. Not detected in spleen, pancreas, and liver. May also be expressed in developing brain and placenta. 2020-06-12T23:07:35Z 2020-07-28T02:30:45Z 0 0 0 5190 CDBP05189 Chromodomain-helicase-DNA-binding protein 1-like Q86WJ1 true false Enzyme CHD1L 89974.62 7.02 DNA helicase which plays a role in chromatin-remodeling following DNA damage. Targeted to sites of DNA damage through interaction with poly(ADP-ribose) and functions to regulate chromatin during DNA repair. Able to catalyze nucleosome sliding in an ATP-dependent manner. Helicase activity is strongly stimulated upon poly(ADP-ribose)-binding. 1 1q12 HGNC:1916 true hsa:9557 NP_001243265.1:NM_001256336.1;NP_001243266.1:NM_001256337.1;NP_001243267.1:NM_001256338.1;NP_004275.4:NM_004284.4;NP_078844.2:NM_024568.2;XP_003960255.1:XM_003960206.1;XP_003960264.1:XM_003960215.1 Frequently overexpressed in hepatomacellular carcinomas. Interacts with PARP1; interacts only when PARP1 is poly-ADP-ribosylated (PARylated) 2020-06-12T23:07:35Z 2020-07-28T02:30:45Z 0 0 0 5191 CDBP05190 Chromodomain-helicase-DNA-binding protein 1 O14646 true false Enzyme CHD1 196685.865 7.133 ATP-dependent chromatin-remodeling factor which functions as substrate recognition component of the transcription regulatory histone acetylation (HAT) complex SAGA. Regulates polymerase II transcription. Also required for efficient transcription by RNA polymerase I, and more specifically the polymerase I transcription termination step. Regulates negatively DNA replication. Not only involved in transcription-related chromatin-remodeling, but also required to maintain a specific chromatin configuration across the genome. Is also associated with histone deacetylase (HDAC) activity (By similarity). Required for the bridging of SNF2, the FACT complex, the PAF complex as well as the U2 snRNP complex to H3K4me3. Functions to modulate the efficiency of pre-mRNA splicing in part through physical bridging of spliceosomal components to H3K4me3. Required for maintaining open chromatin and pluripotency in embryonic stem cells. 2B2T;2B2U;2B2V;2B2W;2B2Y;4B4C 5 5q15-q21 HGNC:1915 true hsa:1105 NP_001261.2:NM_001270.2 Component of the SAGA complex . Interacts with BCLAF1, NCoR, SRP20 and SAFB (By similarity). Specifically interacts with methylated H3K4me2 and H3K4me3. Interacts with the FACT complex, the PAF complex and the U2 snRNP. Interacts directly with PAF1, SFA3A1, SFA3A2, SFA3A3, SNF2 and SSRP1 2020-06-12T23:07:35Z 2020-07-28T02:30:45Z 0 0 1 5192 CDBP05191 Chromodomain-helicase-DNA-binding protein 2 O14647 true false Enzyme CHD2 56825.8 5.749 Sequence-selective DNA-binding protein (By similarity). 15 15q26 HGNC:1917 true hsa:1106 NP_001036037.1:NM_001042572.2;NP_001262.3:NM_001271.3 2020-06-12T23:07:35Z 2020-07-28T02:30:45Z 0 0 1 5193 CDBP05192 Chromodomain-helicase-DNA-binding protein 3 Q12873 true false Enzyme CHD3 233035.1 6.222 Component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin by deacetylating histones. Required for anchoring centrosomal pericentrin in both interphase and mitosis, for spindle organization and centrosome integrity. 17 17p13.1 HGNC:1918 true hsa:1107 NP_001005271.2:NM_001005271.2;NP_001005273.1:NM_001005273.2;NP_005843.2:NM_005852.3 Widely expressed. Central component of the nucleosome remodeling and histone deacetylase (NuRD) repressive complex. Interacts with TRIM28 and SERBP1. Interacts (via its C-terminal) with HABP4. Interacts with PCNT; the interaction regulates centrosome integrity 2020-06-12T23:07:35Z 2020-07-28T02:30:45Z 0 1 1 5194 CDBP05193 Chromodomain-helicase-DNA-binding protein 4 Q14839 true false Enzyme CHD4 218002.965 5.853 Component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin by deacetylating histones. 1MM2;1MM3;2EE1;2L5U;2L75 12 12p13 HGNC:1919 true hsa:1108 NP_001264.2:NM_001273.2 Central component of the nucleosome remodeling and histone deacetylase (NuRD) repressor complex. Interacts directly with IKFZ1 in the NuRD complex. Interacts with TRIM27. Part of a complex containing ATR and HDAC2. Interacts with KLF1; the interaction depends on sumoylation of KLF1, and leads to its transcriptional repression . Interacts with ZGPAT; the interaction is direct. Interacts with PCNT 2020-06-12T23:07:36Z 2020-07-28T02:30:45Z 0 1 1 5195 CDBP05194 Chromodomain-helicase-DNA-binding protein 5 Q8TDI0 true false Enzyme CHD5 223047.795 6.152 May play a role in the development of the nervous system and the pathogenesis of neural tumors. 1 1p36.31 HGNC:16816 true hsa:26038 NP_056372.1:NM_015557.2 Preferentially expressed in total brain, fetal brain, and cerebellum. It is also moderately expressed in the adrenal gland. 2020-06-12T23:07:36Z 2020-07-28T02:30:45Z 0 1 1 5196 CDBP05195 Chromodomain-helicase-DNA-binding protein 6 Q8TD26 true false Enzyme CHD6 305409.5 6.261 Probable transcription regulator. 2EPB 20 20q12 HGNC:19057 true hsa:84181 NP_115597.3:NM_032221.3 Ubiquitous. 2020-06-12T23:07:36Z 2020-07-28T02:30:45Z 0 0 1 5197 CDBP05196 Chromodomain-helicase-DNA-binding protein 7 Q9P2D1 true false Enzyme CHD7 335924.85 6.342 Probable transcription regulator. 2CKC;2V0E;2V0F 8 8q12.2 HGNC:20626 true hsa:55636 NP_060250.2:NM_017780.3 Widely expressed in fetal and adult tissues. May interact with CTCF. Interacts with CHD8 2020-06-12T23:07:36Z 2020-07-28T02:30:45Z 0 0 1 5198 CDBP05197 Chromodomain-helicase-DNA-binding protein 8 Q9HCK8 true false Enzyme CHD8 290516.69 6.471 DNA helicase that acts as a chromatin remodeling factor and regulates transcription. Acts as a transcription repressor by remodeling chromatin structure and recruiting histone H1 to target genes. Suppresses p53/TP53-mediated apoptosis by recruiting histone H1 and preventing p53/TP53 transactivation activity. Acts as a negative regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) activity. Negatively regulates CTNNB1-targeted gene expression by being recruited specifically to the promoter regions of several CTNNB1 responsive genes. Involved in both enhancer blocking and epigenetic remodeling at chromatin boundary via its interaction with CTCF. Acts as a suppressor of STAT3 activity by suppressing the LIF-induced STAT3 transcriptional activity. Also acts as a transcription activator via its interaction with ZNF143 by participating in efficient U6 RNA polymerase III transcription. 2CKA;2DL6 14 14q11.2 HGNC:20153 true hsa:57680 NP_001164100.1:NM_001170629.1;NP_065971.2:NM_020920.3 Interacts with p53/TP53, histone H1, CTNNB1, CTCF and PIAS3. Component of some MLL1/MLL complex, at least composed of the core components MLL, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Interacts with CHD7 2020-06-12T23:07:36Z 2020-07-28T02:30:45Z 1 0 1 5199 CDBP05198 Chromodomain-helicase-DNA-binding protein 9 Q3L8U1 true false Enzyme CHD9 324052.82 6.923 Acts as a transcriptional coactivator for PPARA and possibly other nuclear receptors. Proposed to be a ATP-dependent chromatin remodeling protein. Has DNA-dependent ATPase activity and binds to A/T-rich DNA. Associates with A/T-rich regulatory regions in promoters of genes that participate in the differentiation of progenitors during osteogenesis (By similarity). 16 16q12.2 HGNC:25701 true hsa:80205 NP_079410.4:NM_025134.4 Widely expressed at low levels. In bone marrow, expression is restricted to osteoprogenitor cells adjacent to mature osteoblasts. Interacts with PPARA. Probably interacts with ESR1 and NR1I3 2020-06-12T23:07:36Z 2020-07-28T02:30:45Z 0 0 1 5200 CDBP05199 Calmodulin-lysine N-methyltransferase Q7Z624 true false Enzyme CAMKMT 36127.88 6.831 Catalyzes the trimethylation of 'Lys-116' in calmodulin. 2 2p21 HGNC:26276 true hsa:79823 NP_079042.1:NM_024766.4 Isoform 1 is expressed in brain,liver, muscle colon and lung. Isoform 2 is expressed in colon, testis, kidney and brain. Isoform 1 and isoform 2 are expressed in normal lymphoblastoid cells but not in lymphoblastoid cells from patients with hypotonia-cystinuria syndrome. Monomer 2020-06-12T23:07:36Z 2020-07-28T02:30:45Z 0 0 0 5201 CDBP05200 Steroid 21-hydroxylase P08686 true false Enzyme CYP21A2 56000.94 7.818 Specifically catalyzes the 21-hydroxylation of steroids. Required for the adrenal synthesis of mineralocorticoids and glucocorticoids. 2GEG 6 6p21.3 HGNC:2600 true hsa:1589 HS09769-MONOMER NP_000491.4:NM_000500.7;NP_001122062.3:NM_001128590.3 Heme group 2020-06-12T23:07:36Z 2020-07-28T02:30:45Z 0 0 0 5202 CDBP05201 Thiomorpholine-carboxylate dehydrogenase Q14894 true false Enzyme CRYM 29425.425 5.257 Specifically catalyzes the reduction of imine bonds in brain substrates that may include cystathionine ketimine (CysK) and lanthionine ketimine (LK). Binds thyroid hormone which is a strong reversible inhibitor. Presumably involved in the regulation of the free intracellular concentration of triiodothyronine and access to its nuclear receptors. 2I99 16 16p12.2 HGNC:2418 true hsa:1428 NP_001014444.1:NM_001014444.2;NP_001879.1:NM_001888.3 Expressed in neural tissue, muscle and kidney. NAD or NADP Homodimer 2020-06-12T23:07:36Z 2020-07-28T02:30:45Z 0 0 1 5203 CDBP05202 Carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 O14595 true false Enzyme CTDSP2 30663.73 5.524 Preferentially catalyzes the dephosphorylation of 'Ser-5' within the tandem 7 residues repeats in the C-terminal domain (CTD) of the largest RNA polymerase II subunit POLR2A. Negatively regulates RNA polymerase II transcription, possibly by controlling the transition from initiation/capping to processive transcript elongation. Recruited by REST to neuronal genes that contain RE-1 elements, leading to neuronal gene silencing in non-neuronal cells. May contribute to the development of sarcomas. 2Q5E 12 12q14.1 HGNC:17077 true hsa:10106 NP_005721.3:NM_005730.3 Expression is restricted to non-neuronal tissues. Highest expression in pancreas and lowest in liver. magnesium ion per monomer Monomer . Interacts with REST 2020-06-12T23:07:36Z 2020-07-28T02:30:45Z 0 1 0 5204 CDBP05203 CTD small phosphatase-like protein O15194 true false Enzyme CTDSPL 31128.305 5.535 Preferentially catalyzes the dephosphorylation of 'Ser-5' within the tandem 7 residues repeats in the C-terminal domain (CTD) of the largest RNA polymerase II subunit POLR2A. Negatively regulates RNA polymerase II transcription, possibly by controlling the transition from initiation/capping to processive transcript elongation (By similarity). Recruited by REST to neuronal genes that contain RE-1 elements, leading to neuronal gene silencing in non-neuronal cells. 2HHL 3 3p21.3 HGNC:16890 true hsa:10217 NP_001008393.1:NM_001008392.1;NP_005799.2:NM_005808.2 Expression is restricted to non-neuronal tissues. magnesium ion per monomer Monomer. Interacts with REST 2020-06-12T23:07:36Z 2020-07-28T02:30:45Z 0 1 0 5205 CDBP05204 Choline transporter-like protein 5 Q8NCS7 false false Enzyme SLC44A5 81561.09 8.057 1 1p31.1 HGNC:28524 true hsa:204962 NP_001123530.1:NM_001130058.1;NP_689910.2:NM_152697.4 2020-06-12T23:07:36Z 2020-07-28T02:34:31Z 0 0 0 5206 CDBP05205 Putative ATP-dependent RNA helicase DDX11-like protein 8 A8MPP1 true false Enzyme DDX11L8 Putative DNA helicase (By similarity). HGNC:37101 true 2020-06-12T23:07:36Z 2020-07-28T02:30:46Z 0 0 0 5207 CDBP05206 m7GpppX diphosphatase Q96C86 true false Enzyme DCPS 38608.45 6.377 Decapping scavenger enzyme that catalyzes the cleavage of a residual cap structure following the degradation of mRNAs by the 3'->5' exosome-mediated mRNA decay pathway. Hydrolyzes cap analog structures like 7-methylguanosine nucleoside triphosphate (m7GpppG) with up to 10 nucleotide substrates (small capped oligoribonucleotides) and specifically releases 5'-phosphorylated RNA fragments and 7-methylguanosine monophosphate (m7GMP). Cleaves cap analog structures like tri-methyl guanosine nucleoside triphosphate (m3(2,2,7)GpppG) with very poor efficiency. Does not hydrolyze unmethylated cap analog (GpppG) and shows no decapping activity on intact m7GpppG-capped mRNA molecules longer than 25 nucleotides. Does not hydrolyze 7-methylguanosine diphosphate (m7GDP) to m7GMP (PubMed:22985415). May also play a role in the 5'->3 mRNA decay pathway; m7GDP, the downstream product released by the 5'->3' mRNA mediated decapping activity, may be also converted by DCPS to m7GMP (PubMed:14523240). Binds to m7GpppG and strongly to m7GDP. Plays a role in first intron splicing of pre-mRNAs. Inhibits activation-induced cell death. 1ST0;1ST4;1XML;1XMM;3BL7;3BL9;3BLA 11 11q24.2 HGNC:29812 true hsa:28960 NP_054745.1:NM_014026.3 Detected in liver, brain, kidney, testis and prostate. Homodimer. Associates with components of the exosome multienzyme ribonuclease complex, such as EXOSC3 and EXOSC4. Interacts with NDOR1 2020-06-12T23:07:36Z 2020-07-28T02:30:46Z 0 0 0 5208 CDBP05207 dCTP pyrophosphatase 1 Q9H773 true false Enzyme DCTPP1 18680.645 5.031 Hydrolyzes deoxynucleoside triphosphates (dNTPs) to the corresponding nucleoside monophosphates. Has a strong preference for modified dCTP. Activity is highest with 5-iodo-dCTP, followed by 5-bromo-dCTP, unmodified dCTP, 5-methyl-dCTP and 5-chloro-dCTP. Hydrolyzes 2-chloro-dATP and 2-hydroxy-dATP with lower efficiency, and has even lower activity with unmodified dATP, dTTP and dUTP (in vitro). Does not hydrolyze ATP, UTP, ITP, GTP, dADP, dCDP or dGTP. May protect DNA or RNA against the incorporation of non-canonical nucleotide triphosphates. May protect cells against inappropriate methylation of CpG islands by DNA methyltransferases (By similarity). 16 16p11.2 HGNC:28777 true hsa:79077 NP_077001.1:NM_024096.1 Magnesium. Probably binds two or three magnesium ions Homotetramer 2020-06-12T23:07:36Z 2020-07-28T02:30:46Z 0 0 0 5209 CDBP05208 ATP-dependent RNA helicase DDX19A Q9NUU7 true false Enzyme DDX19A 53974.595 6.582 ATP-dependent RNA helicase involved in mRNA export from the nucleus. Rather than unwinding RNA duplexes, DDX19 functions as a remodeler of ribonucleoprotein particles, whereby proteins bound to nuclear mRNA are dissociated and replaced by cytoplasmic mRNA binding proteins (By similarity). 16 16q22.1 HGNC:25628 true hsa:55308 NP_060802.1:NM_018332.3 2020-06-12T23:07:36Z 2020-07-28T02:30:46Z 0 0 0 5210 CDBP05209 ATP-dependent RNA helicase DDX19B Q9UMR2 true false Enzyme DDX19B 41779.035 7.879 ATP-dependent RNA helicase involved in mRNA export from the nucleus. Rather than unwinding RNA duplexes, DDX19B functions as a remodeler of ribonucleoprotein particles, whereby proteins bound to nuclear mRNA are dissociated and replaced by cytoplasmic mRNA binding proteins. 3EWS;3FHC;3FHT;3FMO;3FMP;3G0H 16 16q22.1 HGNC:2742 true hsa:11269 NP_001014449.1:NM_001014449.2;NP_001014451.1:NM_001014451.2;NP_001244101.1:NM_001257172.1;NP_001244102.1:NM_001257173.1;NP_001244103.1:NM_001257174.1;NP_009173.1:NM_007242.5 Interacts with NUP214 or RNA in a mutually exclusive manner 2020-06-12T23:07:36Z 2020-07-28T02:30:46Z 0 0 0 5211 CDBP05210 Probable ATP-dependent RNA helicase DDX10 Q13206 true false Enzyme DDX10 100887.17 8.626 Putative ATP-dependent RNA helicase. 2PL3 11 11q22-q23 HGNC:2735 true hsa:1662 NP_004389.2:NM_004398.2 High in testis but widely expressed. 2020-06-12T23:07:36Z 2020-07-28T02:30:46Z 0 0 0 5212 CDBP05211 Probable ATP-dependent RNA helicase DDX11 Q96FC9 true false Enzyme DDX11 108312.075 7.313 DNA helicase involved in cellular proliferation. Possesses DNA-dependent ATPase and helicase activities. This helicase translocates on single-stranded DNA in the 5' to 3' direction in the presence of ATP and, to a lesser extent, dATP. Its unwinding activity requires a 5'-single-stranded region for helicase loading, since flush-ended duplex structures do not support unwinding. The helicase activity is capable of displacing duplex regions up to 100 bp, which can be extended to 500 bp by RPA or the cohesion establishment factor, the Ctf18-RFC (replication factor C) complex activities. Stimulates the flap endonuclease activity of FEN1. Required for normal sister chromatid cohesion. Required for recruitment of bovine papillomavirus type 1 regulatory protein E2 to mitotic chrmosomes and for viral genome maintenance. Required for maintaining the chromosome segregation and is essential for embryonic development and the prevention of aneuploidy. May function during either S, G2, or M phase of the cell cycle. Binds to both single- and double-stranded DNA. 12 12p11 HGNC:2736 true hsa:1663 NP_001244073.1:NM_001257144.1;NP_001244074.1:NM_001257145.1;NP_004390.3:NM_004399.2;NP_689651.1:NM_152438.1 Highly expressed in spleen, B-cells, thymus, testis, ovary, small intestine, and pancreas. Very low expression seen in the brain. Expressed in dividing cells and/or cells undergoing high levels of recombination. No expression is seen in cells signaled to terminally differentiate. Expressed in keratinocyte growth factor-stimulated cells but not in serum, EGF and IL1-beta-treated keratinocytes. 4Fe-4S cluster Interacts with the CTF18-RFC complex, PCNA and FEN1. Forms a complex with RAD21, SMC1 and SMC3. Interacts with bovine papillomavirus type 1 regulatory protein E2 2020-06-12T23:07:36Z 2020-07-28T02:30:46Z 0 1 0 5213 CDBP05212 Putative ATP-dependent RNA helicase DDX12 Q92771 true false Enzyme DDX12P DNA helicase involved in cellular proliferation. Probably required for maintaining the chromosome segregation (By similarity). HGNC:2737 true Only expressed in proliferating tissues. 2020-06-12T23:07:36Z 2020-07-28T02:30:46Z 0 0 0 5214 CDBP05213 Probable ATP-dependent RNA helicase DDX17 Q92841 true false Enzyme DDX17 80271.8 8.269 RNA-dependent ATPase activity. Involved in transcriptional regulation. Transcriptional coactivator for estrogen receptor ESR1. Increases ESR1 AF-1 domain-mediated transactivation. Synergizes with DDX5 and SRA1 RNA to activate MYOD1 transcriptional activity and probably involved in skeletal muscle differentiation. Required for zinc-finger antiviral protein ZC3HAV1-mediated mRNA degradation. 22 22q13.1 HGNC:2740 true hsa:10521 NP_006377.2:NM_006386.4 Ubiquitous. Interacts with ESR1. Interacts with NCOA1, NCOA2, NCOA3, TP53 and HDAC1. Self-associates. Interacts with DDX5. Interacts with DCP1A in an RNA-independent manner. Interacts with DCP2 in an RNA-dependent manner. Interacts with ZC3HAV1 (via N-terminal domain) in an RNA-independent manner. Interacts with EXOSC3 and EXOSC5 only in the presence of ZC3HAV1 in an RNA-independent manner 2020-06-12T23:07:36Z 2020-07-28T02:30:46Z 1 0 1 5215 CDBP05214 ATP-dependent RNA helicase DDX18 Q9NVP1 true false Enzyme DDX18 75406.265 9.497 Probable RNA-dependent helicase. 3LY5 2 2q14.1 HGNC:2741 true hsa:8886 NP_006764.3:NM_006773.3 Interacts with NOL8; the interaction is RNA-dependent 2020-06-12T23:07:36Z 2020-07-28T02:30:46Z 0 0 0 5216 CDBP05215 ATP-dependent RNA helicase DDX1 Q92499 true false Enzyme DDX1 82431.675 7.222 Acts as an ATP-dependent RNA helicase, able to unwind both RNA-RNA and RNA-DNA duplexes. Possesses 5' single-stranded RNA overhang nuclease activity. Possesses ATPase activity on various RNA, but not DNA polynucleotides. May play a role in RNA clearance at DNA double-strand breaks (DSBs), thereby facilitating the template-guided repair of transcriptionally active regions of the genome. Together with RELA, acts as a coactivator to enhance NF-kappa-B-mediated transcriptional activation. Acts as a positive transcriptional regulator of cyclin CCND2 expression. Binds to the cyclin CCND2 promoter region. Associates with chromatin at the NF-kappa-B promoter region via association with RELA. Binds to poly(A) RNA. May be involved in 3'-end cleavage and polyadenylation of pre-mRNAs. Required for HIV-1 Rev function as well as for HIV-1 replication. Binds to the RRE sequence of HIV-1 mRNAs. 2 2p24 HGNC:2734 true hsa:1653 NP_004930.1:NM_004939.2 Highest levels of transcription in 2 retinoblastoma cell lines and in tissues of neuroectodermal origin including the retina, brain, and spinal cord. Interacts with PHF5A (via C-terminus) . Interacts with MBNL1. Interacts with CSTF2. Interacts with HNRNPK. Interacts with ATM. Interacts with RELA (via C-terminus). Interacts (via C-terminus) with the replicase polyprotein 1ab Nsp14 of the avian infectious bronchitis virus (IBV). Interacts with Rev of HIV-1. Interacts with severe acute respiratory syndrome coronavirus (SARS-CoV) (via N-terminus). Component of the tRNA-splicing ligase complex 2020-06-12T23:07:36Z 2020-07-28T02:30:46Z 0 0 1 5217 CDBP05216 Probable ATP-dependent RNA helicase DDX20 Q9UHI6 true false Enzyme DDX20 92239.715 6.952 The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing in the nucleus. It may also play a role in the metabolism of snoRNPs. 2OXC;3B7G 1 1p21.1-p13.2 HGNC:2743 true hsa:11218 NP_009135.4:NM_007204.4 Ubiquitous. Part of the core SMN complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Interacts directly with SMN1 and with several spliceosomal snRNP core Sm proteins, including SNUPN, SNRPB, SNRPD2 and SNRPD3. Interacts with PPP4R2. Interacts with EBV EBNA2 and EBNA3C. Interacts with FOXL2 2020-06-12T23:07:36Z 2020-07-28T02:30:46Z 0 0 1 5218 CDBP05217 Nucleolar RNA helicase 2 Q9NR30 true false Enzyme DDX21 79656.25 9.38 Can unwind double-stranded RNA (helicase) and can fold or introduce a secondary structure to a single-stranded RNA (foldase). Functions as cofactor for JUN-activated transcription. Involved in rRNA processing. 10 10q21 HGNC:2744 true hsa:9188 NP_001243839.1:NM_001256910.1;NP_004719.2:NM_004728.3 Component of the B-WICH complex, at least composed of SMARCA5/SNF2H, BAZ1B/WSTF, SF3B1, DEK, MYO1C, ERCC6, MYBBP1A and DDX21. Interacts with C1QBP 2020-06-12T23:07:36Z 2020-07-28T02:30:46Z 0 0 0 5219 CDBP05218 Probable ATP-dependent RNA helicase DDX23 Q9BUQ8 true false Enzyme DDX23 95581.625 9.56 Involved in pre-mRNA splicing and its phosphorylated form (by SRPK2) is required for spliceosomal B complex formation. 12 12q13.12 HGNC:17347 true hsa:9416 NP_004809.2:NM_004818.2 The phosphorylated form (by SRPK2) associates wth tri-snRNP (U4/U6-U5 tri-small nuclear ribonucleoproteins). Identified in the spliceosome C complex. Interacts with ERBB4 2020-06-12T23:07:36Z 2020-07-28T02:30:46Z 0 0 0 5220 CDBP05219 ATP-dependent RNA helicase DDX24 Q9GZR7 true false Enzyme DDX24 96330.99 9.057 ATP-dependent RNA helicase (Potential). 14 14q32 HGNC:13266 true hsa:57062 NP_065147.1:NM_020414.3 Ubiquitous. Most abundant in heart and brain, but with lowest levels in thymus and small intestine. 2020-06-12T23:07:36Z 2020-07-28T02:30:46Z 0 0 0 5221 CDBP05220 ATP-dependent RNA helicase DDX25 Q9UHL0 true false Enzyme DDX25 54691.51 6.276 ATP-dependent RNA helicase. Required for mRNA export and translation regulation during spermatid development (By similarity). 2RB4 11 11q24 HGNC:18698 true hsa:29118 NP_037396.3:NM_013264.4 Highly expressed in the Leydig and germ cells of the testis and weakly expressed in the pituitary and hypothalamus. 2020-06-12T23:07:36Z 2020-07-28T02:30:46Z 0 0 0 5222 CDBP05221 Probable ATP-dependent RNA helicase DDX27 Q96GQ7 true false Enzyme DDX27 89834.515 9.281 Probable ATP-dependent RNA helicase. 20 20q13.13 HGNC:15837 true hsa:55661 NP_060365.7:NM_017895.7 2020-06-12T23:07:36Z 2020-07-28T02:30:46Z 0 0 0 5223 CDBP05222 Probable ATP-dependent RNA helicase DDX28 Q9NUL7 true false Enzyme DDX28 59580.575 10.42 May be involved in RNA processing or transport. Has RNA and Mg(2+)-dependent ATPase activity. 16 16q22.1 HGNC:17330 true hsa:55794 NP_060850.2:NM_018380.3 Expressed in all tissues tested, including brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, leukocytes, colon, small intestine, ovary and prostate. 2020-06-12T23:07:36Z 2020-07-28T02:30:46Z 0 0 0 5224 CDBP05223 Probable ATP-dependent RNA helicase DDX31 Q9H8H2 true false Enzyme DDX31 94086.33 9.996 Probable ATP-dependent RNA helicase (By similarity). 9 9q34.13 HGNC:16715 true hsa:64794 NP_073616.6:NM_022779.7;NP_619526.1:NM_138620.1 2020-06-12T23:07:36Z 2020-07-28T02:30:46Z 0 0 0 5225 CDBP05224 ATP-dependent RNA helicase DDX3X O00571 true false Enzyme DDX3X 71354.575 6.618 Multifunctional ATP-dependent RNA helicase. The ATPase activity can be stimulated by various ribo- and deoxynucleic acids indicative for a relaxed substrate specificity. In vitro can unwind partially double stranded DNA with a preference for 5'-single stranded DNA overhangs. Is involved in several steps of gene expression, such as transcription, mRNA maturation, mRNA export and translation. However, the exact mechanisms are not known and some functions may be specific for a subset of mRNAs. Involved in transcriptional regulation. Can enhance transcription from the CDKN1A/WAF1 promoter in a SP1-dependent manner. Found associated with the E-cadherin promoter and can down-regulate transcription from the promoter. Involved in regulation of translation initiation. Proposed to be involved in positive regulation of translation such as of cyclin E1/CCNE1 mRNA and specifically of mRNAs containing complex secondary structures in their 5'UTRs; these functions seem to require RNA helicase activity. Specifically promotes translation of a subset of viral and cellular mRNAs carrying a 5'proximal stem-loop structure in their 5'UTRs and cooperates with the eIF4F complex. Proposed to act prior to 43S ribosomal scanning and to locally destabilize these RNA structures to allow recognition of the mRNA cap or loading onto the 40S subunit. After association with 40S ribosomal subunits seems to be involved in the functional assembly of 80S ribosomes; the function seems to cover translation of mRNAs with structured and non-structured 5'UTRs and is independent of RNA helicase activity. Also proposed to inhibit cap-dependent translation by competetive interaction with EIF4E which can block the EIF4E:EIF4G complex formation. Proposed to be involved in stress response and stress granule assembly; the function is independent of RNA helicase activity and seems to involve association with EIF4E. May be involved in nuclear export of specific mRNAs but not in bulk mRNA export via interactions with XPO1 and NXF1. Also associates with polyadenylated mRNAs independently of NXF1. Associates with spliced mRNAs in an exon junction complex (EJC)-dependent manner and seems not to be directly involved in splicing. May be involved in nuclear mRNA export by association with DDX5 and regulating its nuclear location. Involved in innate immune signaling promoting the production of type I interferon (IFN-alpha and IFN-beta); proposed to act as viral RNA sensor, signaling intermediate and transcriptional coactivator. Involved in TBK1 and IKBKE-dependent IRF3 activation leading to IFN-beta induction. Also found associated with IFN-beta promoters; the function is independent of IRF3. Can bind to viral RNAs and via association with MAVS/IPS1 and DDX58/RIG-I is thought to induce signaling in early stages of infection. Involved in regulation of apoptosis. May be required for activation of the intrinsic but inhibit activation of the extrinsic apoptotic pathway. Acts as an antiapoptotic protein through association with GSK3A/B and BIRC2 in an apoptosis antagonizing signaling complex; activation of death receptors promotes caspase-dependent cleavage of BIRC2 and DDX3X and relieves the inhibition. May be involved in mitotic chromosome segregation. Appears to be a prime target for viral manipulations. Hepatitis B virus (HBV) polymerase and possibly vaccinia virus (VACV) protein K7 inhibit IFN-beta induction probably by dissociating DDX3X from TBK1 or IKBKE. Is involved in hepatitis C virus (HCV) replication; the function may involve the association with HCV core protein. HCV core protein inhibits the IPS1-dependent function in viral RNA sensing and may switch the function from a INF-beta inducing to a HCV replication mode. Involved in HIV-1 replication. Acts as a cofactor for XPO1-mediated nuclear export of incompletely spliced HIV-1 Rev RNAs. 2I4I;2JGN;3JRV X Xp11.3-p11.23 HGNC:2745 true hsa:1654 NP_001180346.1:NM_001193417.1;NP_001347.3:NM_001356.3 Interacts with XPO1, TDRD3, PABPC1, NXF1, EIF3C, MAVS, DDX58 and NCAPH. Interacts with DDX5; the interaction is regulated by the phosphorylation status of both proteins. Interacts with EIF4E; DDX3X competes with EIF4G1/EIF4G3 for interaction with EIF4E. Interacts with IKBKE; the interaction is found to be induced upon virus infection and to be inhibited by HBV polymerase. Interacts with TBK1; the interaction is inhibited by HBV polymerase. Associates with the eukaryotic translation initiation factor 3 (eIF-3) complex. Associates with the 40S ribosome. Identified in a mRNP complex, at least composed of DHX9, DDX3X, ELAVL1, HNRNPU, IGF2BP1, ILF3, PABPC1, PCBP2, PTBP2, STAU1, STAU2, SYNCRIP and YBX1. Interacts with HCV core protein. Interacts with vaccinia virus (VACV) protein K7. Found in a complex with HIV-1 Rev and XPO1 2020-06-12T23:07:36Z 2020-07-28T02:30:47Z 1 0 1 5226 CDBP05225 ATP-dependent RNA helicase DDX3Y O15523 true false Enzyme DDX3Y 73153.035 7.553 Probable ATP-dependent RNA helicase. May play a role in spermatogenesis. Y Yq11 HGNC:2699 true hsa:8653 NP_001116137.1:NM_001122665.1;NP_004651.2:NM_004660.3 Testis-specific. Expressed predominantly in spermatogonia. May interact with TDRD3 2020-06-12T23:07:36Z 2020-07-28T02:30:47Z 0 0 0 5227 CDBP05226 Probable ATP-dependent RNA helicase DDX41 Q9UJV9 true false Enzyme DDX41 69837.015 6.84 Probable ATP-dependent RNA helicase. Is required during post-transcriptional gene expression. May be involved in pre-mRNA splicing. 2P6N 5 5q35.3 HGNC:18674 true hsa:51428 NP_057306.2:NM_016222.2 Identified in the spliceosome C complex 2020-06-12T23:07:36Z 2020-07-28T02:30:47Z 0 1 1 5228 CDBP05227 ATP-dependent RNA helicase DDX42 Q86XP3 true false Enzyme DDX42 102974.485 7.015 ATP-dependent RNA helicase. Binds to partially double-stranded RNAs (dsRNAs) in order to unwind RNA secondary structures. Unwinding is promoted in the presence of single-strand binding proteins. Mediates also RNA duplex formation thereby displacing the single-strand RNA binding protein. ATP and ADP modulate its activity: ATP binding and hydrolysis by DDX42 triggers RNA strand separation, whereas the ADP-bound form of the protein triggers annealing of complementary RNA strands. Involved in the survival of cells by interacting with TP53BP2 and thereby counteracting the apoptosis-stimulating activity of TP53BP2. Relocalizes TP53BP2 to the cytoplasm. 17 17q23.3 HGNC:18676 true hsa:11325 NP_031398.2:NM_007372.2;NP_987095.1:NM_203499.1 Expressed in several cell lines (at protein level). Expressed in liver, lung, tonsil, thymus, muscle and pancreatic islets. Component of splicing factor SF3B which is composed of at least eight subunits; SF3B1/SAP155/SF3B155, SF3B2/SAP145/SF3B155, SF3B3/SAP130/SF3B130, SF3B4/SAP49/SF3B49, SF3B14A, PHF5A/SF3B14B, SF3B10 and SF3B125. Interacts (via the C-terminus) with TP53BP2; the interaction is not inhibitied by TP53BP2 ubiquitination and is independent of p53/TP53 2020-06-12T23:07:36Z 2020-07-28T02:30:47Z 0 0 0 5229 CDBP05228 Probable ATP-dependent RNA helicase DDX43 Q9NXZ2 true false Enzyme DDX43 72843.675 8.746 6 6q12-q13 HGNC:18677 true hsa:55510 NP_061135.2:NM_018665.2 Expressed in testis. Expressed in many tumors of various histological types at a level that is 100-fold higher than the level observed in normal tissues except testis. 2020-06-12T23:07:36Z 2020-07-28T02:30:47Z 0 0 0 5230 CDBP05229 Probable ATP-dependent RNA helicase DDX46 Q7L014 true false Enzyme DDX46 117361.09 9.288 Plays an essential role in splicing, either prior to, or during splicing A complex formation. 5 5q31.1 HGNC:18681 true hsa:9879 NP_055644.2:NM_014829.2 Integral component of the 17S U2 snRNP 2020-06-12T23:07:36Z 2020-07-28T02:30:47Z 0 0 0 5231 CDBP05230 Probable ATP-dependent RNA helicase DDX47 Q9H0S4 true false Enzyme DDX47 50646.07 9.103 Involved in apoptosis. May have a role in rRNA processing and mRNA splicing. Associates with pre-rRNA precursors. 3BER 12 12p13.1 HGNC:18682 true hsa:51202 NP_057439.2:NM_016355.3;NP_957518.1:NM_201224.1 Interacts with EIF2C1 and EIF2C2. Interacts with GABARAP. Interacts with NOL8; the interaction is RNA-dependent 2020-06-12T23:07:36Z 2020-07-28T02:30:47Z 0 0 0 5232 CDBP05231 Probable ATP-dependent RNA helicase DDX49 Q9Y6V7 true false Enzyme DDX49 54225.8 9.054 19 19p12 HGNC:18684 true hsa:54555 NP_061943.2:NM_019070.4 2020-06-12T23:07:36Z 2020-07-28T02:30:47Z 0 0 0 5233 CDBP05232 Probable ATP-dependent RNA helicase DDX4 Q9NQI0 true false Enzyme DDX4 75820.165 5.494 May play a role in germ cell development. May play a role in sperm motility. 5 5p15.2-p13.1 HGNC:18700 true hsa:54514 NP_001136021.1:NM_001142549.1;NP_001160005.1:NM_001166533.1;NP_077726.1:NM_024415.2 Expressed only in ovary and testis. Expressed in migratory primordial germ cells in the region of the gonadal ridge in both sexes. Found in a mRNP complex, at least composed of TDRD1, TDRD6, TDRD7 and DDX4. N-terminus interacts with RANBP9. Interacts with PIWIL2 and MAEL 2020-06-12T23:07:36Z 2020-07-28T02:30:47Z 0 0 0 5234 CDBP05233 ATP-dependent RNA helicase DDX50 Q9BQ39 true false Enzyme DDX50 82564.34 9.18 2E29 10 10q22.1 HGNC:17906 true hsa:79009 NP_076950.1:NM_024045.1 Interacts with C1QBP 2020-06-12T23:07:36Z 2020-07-28T02:30:47Z 0 0 0 5235 CDBP05234 ATP-dependent RNA helicase DDX51 Q8N8A6 true false Enzyme DDX51 72456.645 8.169 ATP-binding RNA helicase involved in the biogenesis of 60S ribosomal subunits (By similarity). 12 12q24.33 HGNC:20082 true hsa:317781 NP_778236.2:NM_175066.3 2020-06-12T23:07:36Z 2020-07-28T02:30:47Z 0 0 0 5236 CDBP05235 Probable ATP-dependent RNA helicase DDX52 Q9Y2R4 true false Enzyme DDX52 67497.55 9.67 3DKP 17 17q21.1 HGNC:20038 true hsa:11056 NP_008941.2:NM_007010.3 2020-06-12T23:07:36Z 2020-07-28T02:30:47Z 0 0 0 5237 CDBP05236 Probable ATP-dependent RNA helicase DDX53 Q86TM3 true false Enzyme DDX53 71153.72 9.071 3IUY X Xp22.11 HGNC:20083 true hsa:168400 NP_874358.2:NM_182699.3 Expressed in testis. Wide expression in various cancer tissues and cancer cell lines. 2020-06-12T23:07:36Z 2020-07-28T02:30:47Z 0 0 0 5238 CDBP05237 ATP-dependent RNA helicase DDX54 Q8TDD1 true false Enzyme DDX54 98665.065 10.025 Has RNA-dependent ATPase activity. Represses the transcriptional activity of nuclear receptors. 12 12q24.13 HGNC:20084 true hsa:79039 NP_001104792.1:NM_001111322.1;NP_076977.3:NM_024072.3 Interacts in a hormone-dependent manner with nuclear receptors 2020-06-12T23:07:36Z 2020-07-28T02:30:47Z 1 0 1 5239 CDBP05238 ATP-dependent RNA helicase DDX55 Q8NHQ9 true false Enzyme DDX55 68546.265 9.248 Probable ATP-binding RNA helicase. 12 12q24.31 HGNC:20085 true hsa:57696 NP_065987.1:NM_020936.1 2020-06-12T23:07:36Z 2020-07-28T02:30:47Z 0 0 0 5240 CDBP05239 Probable ATP-dependent RNA helicase DDX56 Q9NY93 true false Enzyme DDX56 57273.97 9.22 May play a role in later stages of the processing of the pre-ribosomal particles leading to mature 60S ribosomal subunits. Has intrinsic ATPase activity. 7 7p13 HGNC:18193 true hsa:54606 NP_001244118.1:NM_001257189.1;NP_061955.1:NM_019082.3 Detected in heart, brain, liver, pancreas, placenta and lung. May form homooligomeric complexes 2020-06-12T23:07:36Z 2020-07-28T02:30:48Z 0 0 0 5241 CDBP05240 Probable ATP-dependent RNA helicase DDX58 O95786 true false Enzyme DDX58 106598.72 6.407 Innate immune receptor which acts as a cytoplasmic sensor of viral nucleic acids and plays a major role in sensing viral infection and in the activation of a cascade of antiviral responses including the induction of type I interferons and proinflammatory cytokines. Its ligands include: 5'-triphosphorylated ssRNA and dsRNA and short dsRNA (<1 kb in length). In addition to the 5'-triphosphate moiety, blunt-end base pairing at the 5'-end of the RNA is very essential. Overhangs at the non-triphosphorylated end of the dsRNA RNA have no major impact on its activity. A 3'overhang at the 5'triphosphate end decreases and any 5'overhang at the 5' triphosphate end abolishes its activity. Upon ligand binding it associates with mitochondria antiviral signaling protein (MAVS/IPS1) which activates the IKK-related kinases: TBK1 and IKBKE which phosphorylate interferon regulatory factors: IRF3 and IRF7 which in turn activate transcription of antiviral immunological genes, including interferons (IFNs); IFN-alpha and IFN-beta. Detects both positive and negative strand RNA viruses including members of the families Paramyxoviridae: Human respiratory syncytial virus and measles virus (MeV), Rhabdoviridae: vesicular stomatitis virus (VSV), Orthomyxoviridae: influenza A and B virus, Flaviviridae: Japanese encephalitis virus (JEV), hepatitis C virus (HCV), dengue virus (DENV) and west Nile virus (WNV). It also detects rotavirus and reovirus. Also involved in antiviral signaling in response to viruses containing a dsDNA genome such as Epstein-Barr virus (EBV). Detects dsRNA produced from non-self dsDNA by RNA polymerase III, such as Epstein-Barr virus-encoded RNAs (EBERs). May play important roles in granulocyte production and differentiation, bacterial phagocytosis and in the regulation of cell migration. 2LWD;2LWE;2QFB;2QFD;2RMJ;2YKG;3LRN;3LRR;3NCU;3OG8;3TMI;4AY2 9 9p12 HGNC:19102 true hsa:23586 NP_055129.2:NM_014314.3 Present in vascular smooth cells (at protein level). Zinc Monomer; maintained as a monomer in an autoinhibited state. Upon viral dsRNA binding and conformation shift, homomultimerizes and interacts with MAVS/IPS1. Interacts with DHX58/LGP2, IKBKE, TBK1 and TMEM173/STING. Interacts (via CARD domain) with TRIM25 (via SPRY domain). Interacts with RNF135. Interacts with CYLD. Interacts with NLRC5; blocks the interaction of MAVS/IPS1 to DDX58. Interacts with SRC. Interacts with protein Z of Guanarito virus, Machupo virus, Junin arenavirus and Sabia virus. This interaction disrupts its interaction with MAVS/IPS1, impeding downstream IRF3 and NF-kappa-B activation and resulting in decreased IFN-beta induction. Interacts (via CARD domain) with Human respiratory syncytial virus A non-structural protein 2 (NS2) and this interaction disrupts its interaction with MAVS/IPS1, impeding downstream IRF3 activation. Interacts with Rotavirus A non-structural protein 1 (NSP1) and this interaction induces down-regulation of DDX58/RIG-I. Interacts with DDX60. Interacts with isoform 2 of ZC3HAV1 (via zinc-fingers) in an RNA-dependent manner 2020-06-12T23:07:36Z 2020-07-28T02:30:48Z 0 1 1 5242 CDBP05241 Probable ATP-dependent RNA helicase DDX59 Q5T1V6 true false Enzyme DDX59 68809.07 7.451 2YQP 1 1q32.1 HGNC:25360 true hsa:83479 NP_001026895.2:NM_001031725.4 2020-06-12T23:07:36Z 2020-07-28T02:30:48Z 0 1 0 5243 CDBP05242 Probable ATP-dependent RNA helicase DDX5 P17844 true false Enzyme DDX5 69147.585 8.924 Involved in the alternative regulation of pre-mRNA splicing; its RNA helicase activity is necessary for increasing tau exon 10 inclusion and occurs in a RBM4-dependent manner. Binds to the tau pre-mRNA in the stem-loop region downstream of exon 10. The rate of ATP hydrolysis is highly stimulated by single-stranded RNA. Involved in transcriptional regulation; the function is independent of the RNA helicase activity. Transcriptional coactivator for estrogen receptor ESR1 and androgen receptor AR. Increases ESR1 AF-1 domain-mediated transactivation and ESR1 AF-1 and AF-2 domains transcriptional synergistic activity. Synergizes with DDX17 and SRA1 RNA to activate MYOD1 transcriptional activity and involved in skeletal muscle differentiation. Transcriptional coactivator for p53/TP53 and involved in p53/TP53 transcriptional response to DNA damage and p53/TP53-dependent apoptosis. Transcriptional coactivator for RUNX2 and involved in regulation of osteoblast differentiation. Acts as transcriptional repressor in a promoter-specicic manner; the function probbaly involves association with histone deacetylases, such as HDAC1. 3FE2;4A4D 17 17q21 HGNC:2746 true hsa:1655 NP_004387.1:NM_004396.3 Interacts with BRDT . Identified in the spliceosome C complex. Interacts with RBM4; the interaction occurs in a RNA-independent manner. Interacts with EIF2C1 and EIF2C2. Interacts with ESR1; the interaction is enhanced by phosphorylation of ESR1 AF-1 domain. Interacts with AR, NCOA1, NCOA2, NCOA3, EP300, CREBBP, POLR2A, TP53, RUNX2 and HDAC1. Self-associates. Interacts with DDX17 2020-06-12T23:07:36Z 2020-07-28T02:30:48Z 1 0 1 5244 CDBP05243 Probable ATP-dependent RNA helicase DDX60 Q8IY21 true false Enzyme DDX60 197851.375 7.599 Positively regulates DDX58/RIG-I- and IFIH1/MDA5-dependent type I interferon and interferon inducible gene expression in response to viral infection. Binds ssRNA, dsRNA and dsDNA and can promote the binding of DDX58/RIG-I to dsRNA. Exhibits antiviral activity against hepatitis C virus and vesicular stomatitis virus (VSV). 4 4q32.3 HGNC:25942 true hsa:55601 NP_060101.3:NM_017631.5 Brain, lymph node, prostate, stomach, thyroid, tongue, trachea, uterus, skeletal muscle, spleen, kidney, liver and small intestine. Interacts with EXOSC1, EXOSC4, DDX58/RIG-I, IFIH1/MDA5 and DHX58/LGP2 2020-06-12T23:07:36Z 2020-07-28T02:30:48Z 0 0 0 5245 CDBP05244 Probable ATP-dependent RNA helicase DDX60-like Q5H9U9 true false Enzyme DDX60L 197671.865 8.29 4 4q32.3 HGNC:26429 true hsa:91351 NP_001012985.1:NM_001012967.1 2020-06-12T23:07:36Z 2020-07-28T02:30:48Z 0 0 0 5246 CDBP05245 Probable ATP-dependent RNA helicase DDX6 P26196 true false Enzyme DDX6 54416.42 8.666 In the process of mRNA degradation, may play a role in mRNA decapping. 1VEC;2WAX;2WAY 11 11q23.3 HGNC:2747 true hsa:1656 NP_001244120.1:NM_001257191.1;NP_004388.2:NM_004397.4 Abundantly expressed in most tissues. Forms a complex with DCP1A, DCP2, EDC3 and EDC4/HEDLS. Interacts with LIMD1, WTIP and AJUBA 2020-06-12T23:07:36Z 2020-07-28T02:30:48Z 0 0 0 5247 CDBP05246 Putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX15 O43143 true false Enzyme DHX15 90932.01 7.454 Pre-mRNA processing factor involved in disassembly of spliceosomes after the release of mature mRNA (By similarity). 4 4p15.3 HGNC:2738 true hsa:1665 NP_001349.2:NM_001358.2 Ubiquitous. Interacts with SSB/La. Component of the U11/U12 snRNPs that are part of the U12-type spliceosome 2020-06-12T23:07:36Z 2020-07-28T02:30:48Z 0 0 0 5248 CDBP05247 ATP-dependent RNA helicase DHX29 Q7Z478 true false Enzyme DHX29 155234.3 8.092 ATP-binding RNA helicase involved in translation initiation. Required for efficient initiation on mammalian mRNAs with structured 5'-UTRs by promoting efficient NTPase-dependent 48S complex formation. Specifically binds to the 40S ribosome near the mRNA entrance. Does not possess a processive helicase activity. 5 5q11.2 HGNC:15815 true hsa:54505 NP_061903.2:NM_019030.2 2020-06-12T23:07:36Z 2020-07-28T02:30:48Z 0 0 0 5249 CDBP05248 Putative ATP-dependent RNA helicase DHX30 Q7L2E3 true false Enzyme DHX30 129436.68 8.529 Required for optimal function of the zinc-finger antiviral protein ZC3HAV1 (By similarity). Associates with mitochondrial DNA. 2DB2 3 3p21.31 HGNC:16716 true hsa:22907 NP_055781.2:NM_014966.3;NP_619520.1:NM_138615.2 Identified in a complex with TFAM and SSBP1. Interacts with EIF2C1 and EIF2C2. Interacts (via N-terminus) with ZC3HAV1 (via N-terminal domain) in an RNA-independent manner 2020-06-12T23:07:36Z 2020-07-28T02:30:48Z 0 0 0 5250 CDBP05249 Putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32 Q7L7V1 true false Enzyme DHX32 84417.77 4.974 10 10q26.2 HGNC:16717 true hsa:55760 NP_060650.2:NM_018180.2 Expressed in lymphoid tissues (at protein level). Expressed in brain, heart, skeletal muscle, colon, thymus, spleen, kidney, liver, small intestine, placenta, lung, lymphoid tissues and blood leukocytes. 2020-06-12T23:07:36Z 2020-07-28T02:30:48Z 0 0 0 5251 CDBP05250 Putative ATP-dependent RNA helicase DHX33 Q9H6R0 true false Enzyme DHX33 60392.585 8.345 Stimulates RNA polymerase I transcription of the 47S precursor rRNA. Associates with ribosomal DNA (rDNA) loci where it is involved in POLR1A recruitment. Important element of nucleolar organization. 17 17p13.2 HGNC:16718 true hsa:56919 NP_001186628.1:NM_001199699.1;NP_064547.2:NM_020162.3 Interacts with UBTF 2020-06-12T23:07:36Z 2020-07-28T02:30:48Z 0 0 1 5252 CDBP05251 Probable ATP-dependent RNA helicase DHX34 Q14147 true false Enzyme DHX34 128118.36 7.559 Probable ATP-binding RNA helicase. 19 19q13.3 HGNC:16719 true hsa:9704 NP_055496.2:NM_014681.5 2020-06-12T23:07:36Z 2020-07-28T02:30:48Z 0 0 0 5253 CDBP05252 Probable ATP-dependent RNA helicase DHX35 Q9H5Z1 true false Enzyme DHX35 78909.65 8.588 May be involved in pre-mRNA splicing. 20 20q11.22-q12 HGNC:15861 true hsa:60625 NP_068750.2:NM_021931.3 Identified in the spliceosome C complex 2020-06-12T23:07:36Z 2020-07-28T02:30:48Z 0 0 0 5254 CDBP05253 Probable ATP-dependent RNA helicase DHX36 Q9H2U1 true false Enzyme DHX36 113152.305 7.667 Plays a role in degradation and deadenylation of mRNAs containing in their 3'-UTR the consensus ARE sequence element. May function in sex development and spermatogenesis. 3 3q25.2 HGNC:14410 true hsa:170506 NP_001107869.1:NM_001114397.1;NP_065916.2:NM_020865.2 Highly expressed in testis. Interacts with EIF2C1, EIF2C2, PARN, EXOSC3 and EXOSC10 2020-06-12T23:07:36Z 2020-07-28T02:30:48Z 0 0 0 5255 CDBP05254 Probable ATP-dependent RNA helicase DHX37 Q8IY37 true false Enzyme DHX37 129544.27 8.106 12 12q24.31 HGNC:17210 true hsa:57647 NP_116045.2:NM_032656.3 2020-06-12T23:07:36Z 2020-07-28T02:30:48Z 0 0 0 5256 CDBP05255 Probable ATP-dependent RNA helicase DHX40 Q8IX18 true false Enzyme DHX40 80219.775 8.505 Probable ATP-dependent RNA helicase (By similarity). 17 17q23.1 HGNC:18018 true hsa:79665 NP_001159773.1:NM_001166301.1;NP_078888.4:NM_024612.4 Ubiquitously expressed. 2020-06-12T23:07:36Z 2020-07-28T02:30:48Z 0 0 0 5257 CDBP05256 Putative ATP-dependent RNA helicase DHX57 Q6P158 true false Enzyme DHX57 155602.975 7.708 Probable ATP-binding RNA helicase. 2 2p22.1 HGNC:20086 true hsa:90957 NP_945314.1:NM_198963.1 2020-06-12T23:07:36Z 2020-07-28T02:30:48Z 0 1 0 5258 CDBP05257 Probable ATP-dependent RNA helicase DHX58 Q96C10 true false Enzyme DHX58 76612.365 7.371 Acts as a regulator of DDX58/RIG-I and IFIH1/MDA5 mediated antiviral signaling. Cannot initiate antiviral signaling as it lacks the CARD domain required for activating MAVS/IPS1-dependent signaling events. Can have both negative and positive regulatory functions related to DDX58/RIG-I and IFIH1/MDA5 signaling and this role in regulating signaling may be complex and could probably depend on characteristics of the infecting virus or target cells, or both. Its inhibitory action on DDX58/RIG-I signaling may involve the following mechanisms: competition with DDX58/RIG-I for binding to the viral RNA, binding to DDX58/RIG-I and inhibiting its dimerization and interaction with MAVS/IPS1, competing with IKBKE in its binding to MAVS/IPS1 thereby inhibiting activation of interferon regulatory factor 3 (IRF3). Its positive regulatory role may involve unwinding or stripping nucleoproteins of viral RNA thereby facilitating their recognition by DDX58/RIG-I and IFIH1/MDA5. Involved in the innate immune response to various RNA viruses and some DNA viruses such as poxviruses, and also to the bacterial pathogen Listeria monocytogenes. Can bind both ssRNA and dsRNA, with a higher affinity for dsRNA. Shows a preference to 5'-triphosphorylated RNA, although it can recognize RNA lacking a 5'-triphosphate. 2RQA;2W4R;3EQT 17 17q21.2 HGNC:29517 true hsa:79132 NP_077024.2:NM_024119.2 Zinc Monomer in the absence of dsRNA. Homodimer in the presence of dsRNA. Interacts with DDX58/RIG-I (via CARD domain), MAVS/IPS1 and DDX60. Found in a complex with DDX58/RIG-I and IFIH1/MDA5. Interacts (via helicase C-terminal domain) with non-structural protein V of Human parainfluenza 2 virus, Human parainfluenza 5 virus, measles virus, mumps virus, hendra virus and nipah virus 2020-06-12T23:07:36Z 2020-07-28T02:30:48Z 0 1 0 5259 CDBP05258 ATP-dependent RNA helicase DHX8 Q14562 true false Enzyme DHX8 139313.305 8.328 Facilitates nuclear export of spliced mRNA by releasing the RNA from the spliceosome. 2EQS;3I4U 17 17q21.31 HGNC:2749 true hsa:1659 NP_004932.1:NM_004941.1 Identified in the spliceosome C complex. Interacts with ARRB2; the interaction is detected in the nucleus upon OR1D2 stimulation 2020-06-12T23:07:36Z 2020-07-28T02:30:48Z 0 0 0 5260 CDBP05259 ATP-dependent RNA helicase A Q08211 true false Enzyme DHX9 140957.465 6.843 Unwinds double-stranded DNA and RNA in a 3' to 5' direction. Alteration of secondary structure may subsequently influence interactions with proteins or other nucleic acids. Functions as a transcriptional activator. Component of the CRD-mediated complex that promotes MYC mRNA stability. Involved with LARP6 in the stabilization of type I collagen mRNAs for CO1A1 and CO1A2. 3LLM 1 1q25 HGNC:2750 true hsa:1660 NP_001348.2:NM_001357.4 Interacts with ZIC2 . Component of the coding region determinant (CRD)-mediated complex, composed of DHX9, HNRNPU, IGF2BP1, SYNCRIP and YBX1. Identified in a mRNP complex, at least composed of DHX9, DDX3X, ELAVL1, HNRNPU, IGF2BP1, ILF3, PABPC1, PCBP2, PTBP2, STAU1, STAU2, SYNCRIP and YBX1. Identified in a mRNP granule complex, at least composed of ACTB, ACTN4, DHX9, ERG, HNRNPA1, HNRNPA2B1, HNRNPAB, HNRNPD, HNRNPL, HNRNPR, HNRNPU, HSPA1, HSPA8, IGF2BP1, ILF2, ILF3, NCBP1, NCL, PABPC1, PABPC4, PABPN1, RPLP0, RPS3, RPS3A, RPS4X, RPS8, RPS9, SYNCRIP, TROVE2, YBX1 and untranslated mRNAs. Interacts with IGF2BP1. Binds MBD2, HRMT1L2/PRMT1, and RELA. May act to directly link BRCA1, CREBBP or SMN1 and the RNA polymerase II complex. Can also interact with XRCC5 and with TOP2A in an RNA dependent manner; these interactions may be indirect. Interaction with TOP2A is promoted by UBC9. Interacts with histone H2AFX and this requires phosphorylation of H2AFX on 'Ser-139'. Interacts with LARP6 2020-06-12T23:07:36Z 2020-07-28T02:30:48Z 0 0 0 5261 CDBP05260 Probable dimethyladenosine transferase Q9UNQ2 true false Enzyme DIMT1 35236.07 9.996 Specifically dimethylates two adjacent adenosines in the loop of a conserved hairpin near the 3'-end of 18S rRNA in the 40S particle (By similarity). 1ZQ9 5 5q12.1 HGNC:30217 true hsa:27292 NP_055288.1:NM_014473.2 2020-06-12T23:07:36Z 2020-07-28T02:30:48Z 0 0 0 5262 CDBP05261 Decaprenyl-diphosphate synthase subunit 2 Q86YH6 true false Enzyme PDSS2 44128.17 8.232 Supplies decaprenyl diphosphate, the precursor for the side chain of the isoprenoid quinones ubiquinone-10. 6 6q21 HGNC:23041 true hsa:57107 HS15203-MONOMER NP_065114.3:NM_020381.3 Heterotetramer of 2 DPS1/TPRT and 2 DLP1 subunits 2020-06-12T23:07:36Z 2020-07-28T02:30:49Z 0 0 0 5263 CDBP05262 DNA replication ATP-dependent helicase/nuclease DNA2 P51530 true false Enzyme DNA2 120413.595 7.739 Key enzyme involved in DNA replication and DNA repair in nucleus and mitochondrion. Involved in Okazaki fragments processing by cleaving long flaps that escape FEN1: flaps that are longer than 27 nucleotides are coated by replication protein A complex (RPA), leading to recruit DNA2 which cleaves the flap until it is too short to bind RPA and becomes a substrate for FEN1. Also involved in 5'-end resection of DNA during double-strand break (DSB) repair: recruited by BLM and mediates the cleavage of 5'-ssDNA, while the 3'-ssDNA cleavage is prevented by the presence of RPA. Also involved in DNA replication checkpoint independently of Okazaki fragments processing. Possesses different enzymatic activities, such as single-stranded DNA (ssDNA)-dependent ATPase, 5'-3' helicase and endonuclease activities. While the ATPase and endonuclease activities are well-defined and play a key role in Okazaki fragments processing and DSB repair, the 5'-3' DNA helicase activity is subject to debate. According to various reports, the helicase activity is weak and its function remains largely unclear. Helicase activity may promote the motion of DNA2 on the flap, helping the nuclease function. 10 10q21.3-q22.1 HGNC:2939 true hsa:1763 NP_001073918.2:NM_001080449.2 4Fe-4S cluster Interacts with BLM and WDHD1 2020-06-12T23:07:36Z 2020-07-28T02:30:49Z 0 1 0 5264 CDBP05263 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 O43598 true false Enzyme DNPH1 19108.255 5.037 Catalyzes the cleavage of the N-glycosidic bond of deoxyribonucleoside 5'-monophosphates to yield deoxyribose 5-phosphate and a purine or pyrimidine base. Deoxyribonucleoside 5'-monophosphates containing purine bases are preferred to those containing pyrimidine bases (By similarity). 6 6p21.1 HGNC:21218 true hsa:10591 NP_006434.1:NM_006443.2;NP_954653.1:NM_199184.1 Expressed at low levels in brain, colon, lung, peripheral blood leukocytes, placenta, small intestine, and thymus. Expressed at high levels in heart, kidney, liver, skeletal muscle and spleen. Overexpressed in a significant proportion of breast cancers. Monomer and homodimer 2020-06-12T23:07:36Z 2020-07-28T02:30:49Z 0 0 0 5265 CDBP05264 Diphthine--ammonia ligase Q7L8W6 true false Enzyme ATPBD4 18657.27 6.409 Amidase that catalyzes the last step of diphthamide biosynthesis using ammonium and ATP. Diphthamide biosynthesis consists in the conversion of an L-histidine residue in the translation elongation factor eEF-2 (EEF2) to diphthamide (Probable). 15 15q14 HGNC:30543 true hsa:89978 NP_001135444.1:NM_001141972.1;NP_542381.1:NM_080650.3 2020-06-12T23:07:36Z 2020-07-28T02:30:49Z 0 0 0 5266 CDBP05265 Dolichol phosphate-mannose biosynthesis regulatory protein O94777 false false Enzyme DPM2 Regulates the biosynthesis of dolichol phosphate-mannose. Essential for the ER localization and stable expression of DPM1. HGNC:3006 true hsa:8818 NP_003854.1:NM_003863.3 Composed of three subunits; DPM1, DPM2 and DPM3. Interacts with DPM1 and DPM3 2020-06-12T23:07:36Z 2020-07-28T02:34:33Z 0 0 0 5267 CDBP05266 Dolichol-phosphate mannosyltransferase subunit 3 Q9P2X0 true false Enzyme DPM3 Stabilizer subunit of the dolichol-phosphate-mannose synthase complex. HGNC:3007 true hsa:54344 NP_061846.2:NM_018973.3;NP_714963.1:NM_153741.1 Composed of three subunits; DPM1, DPM2 and DPM3. Associated with DPM1 via its C-terminal domain and with DPM2 via its N-terminal portion 2020-06-12T23:07:36Z 2020-07-28T02:30:49Z 0 0 0 5268 CDBP05267 DNA polymerase delta subunit 2 P49005 true false Enzyme POLD2 51289.0 5.576 The function of the small subunit is not yet clear. 3E0J 7 7p13 HGNC:9176 true hsa:5425 NP_001120690.1:NM_001127218.2;NP_001243808.1:NM_001256879.1;NP_006221.2:NM_006230.3 Heterotetramer composed of subunits of 125 kDa, 50 kDa, 66 kDa and 12 kDa. Interacts with KCTD10 . Interacts with KCTD13/POLDIP1, POLDIP2 and POLDIP3. Interacts with WRNIP1. Interacts with POLD4 2020-06-12T23:07:36Z 2020-07-28T02:30:49Z 0 0 1 5269 CDBP05268 DNA polymerase subunit gamma-2, mitochondrial Q9UHN1 true false Enzyme POLG2 54910.67 8.36 Mitochondrial polymerase processivity subunit. Stimulates the polymerase and exonuclease activities, and increases the processivity of the enzyme. Binds to ss-DNA. 2G4C;3IKL;3IKM 17 17q HGNC:9180 true hsa:11232 NP_009146.2:NM_007215.3 Heterotrimer composed of a catalytic subunit and a homodimer of accessory subunits 2020-06-12T23:07:37Z 2020-07-28T02:30:49Z 0 0 0 5270 CDBP05269 DNA polymerase nu Q7Z5Q5 true false Enzyme POLN 100306.155 8.29 4 4p16.3 HGNC:18870 true hsa:353497 NP_861524.2:NM_181808.2 Highly expressed in testis and heart. Weakly expressed in skeletal muscle. 2020-06-12T23:07:37Z 2020-07-28T02:30:49Z 0 0 0 5271 CDBP05270 Decaprenyl-diphosphate synthase subunit 1 Q5T2R2 true false Enzyme PDSS1 46260.6 9.0 Supplies decaprenyl diphosphate, the precursor for the side chain of the isoprenoid quinones ubiquinone-10. 10 10p12.1 HGNC:17759 true hsa:23590 HS07530-MONOMER NP_055132.2:NM_014317.3 magnesium ions Heterotetramer of 2 DPS1/TPRT and 2 DLP1 subunits 2020-06-12T23:07:37Z 2020-07-28T02:30:49Z 0 1 0 5272 CDBP05271 ATP-dependent RNA helicase DQX1 Q8TE96 true false Enzyme DQX1 79474.84 5.025 2 2p13.1 HGNC:20410 true hsa:165545 NP_598376.2:NM_133637.2 2020-06-12T23:07:37Z 2020-07-28T02:30:49Z 0 0 0 5273 CDBP05272 Dual specificity phosphatase DUPD1 Q68J44 true false Enzyme DUPD1 25335.335 6.032 2Y96 10 10q22.2 HGNC:23481 true hsa:338599 NP_001003892.1:NM_001003892.1 Skeletal muscle, liver and adipose tissue. Homodimer 2020-06-12T23:07:37Z 2020-07-28T02:30:49Z 0 0 0 5274 CDBP05273 Dual specificity protein phosphatase 22 Q9NRW4 true false Enzyme DUSP22 20909.845 8.105 Activates the Jnk signaling pathway. Dephosphorylates and deactivates p38 and stress-activated protein kinase/c-Jun N-terminal kinase (SAPK/JNK) (By similarity). 1WRM 6 6p25.3 HGNC:16077 true hsa:56940 NP_064570.1:NM_020185.3 Ubiquitous. Highest expression seen in heart, placenta, lung, liver, kidney and pancreas. Monomer 2020-06-12T23:07:37Z 2020-07-28T02:30:49Z 1 0 1 5275 CDBP05274 Dual specificity protein phosphatase 23 Q9BVJ7 true false Enzyme DUSP23 16587.985 8.213 Protein phosphatase that mediates dephosphorylation of proteins phosphorylated on Tyr and Ser/Thr residues. In vitro, it can dephosphorylate p44-ERK1 (MAPK3) but not p54 SAPK-beta (MAPK10) in vitro. Able to enhance activation of JNK and p38 (MAPK14). 2IMG;4ERC 1 1q23.2 HGNC:21480 true hsa:54935 NP_060293.2:NM_017823.3 Widely expressed. Highly expressed in spleen, prostate, colon, adrenal gland, mammary gland, thyroid and trachea. Expressed at lower level in uterus, small intestine, bladder, bone marrow, brain, spinal cord and stomach. 2020-06-12T23:07:37Z 2020-07-28T02:30:49Z 0 0 0 5276 CDBP05275 Dual specificity protein phosphatase 26 Q9BV47 true false Enzyme DUSP26 23945.38 9.607 Inactivates MAPK1 and MAPK3 which leads to dephosphorylation of heat shock factor protein 4 and a reduction in its DNA-binding activity. Inhibits MAP kinase p38 by dephosphorylating it and inhibits p38-mediated apoptosis in anaplastic thyroid cancer cells. Can also induce activation of MAP kinase p38 and c-Jun N-terminal kinase (JNK). 2E0T 8 8p12 HGNC:28161 true hsa:78986 NP_076930.1:NM_024025.1 Brain. In the brain it is expressed ubiquitously except in the hippocampus. Expressed in embryonal cancers (retinoblastoma, neuroepithilioma and neuroblastoma) and in anaplatic thyroid cancer. Interacts with HSF4 2020-06-12T23:07:37Z 2020-07-28T02:30:49Z 0 0 0 5277 CDBP05276 ATP-dependent RNA helicase DDX39A O00148 true false Enzyme DDX39A 49129.15 5.676 Involved in pre-mRNA splicing. Required for the export of mRNA out of the nucleus. 19 19p13.12 HGNC:17821 true hsa:10212 NP_005795.2:NM_005804.3 Detected in testis, and at lower levels in brain, kidney, lung, thymus, spleen and salivary gland. Binds ALYREF/THOC4 and DDX39B/BAT1. Interacts with SARNP. Interacts with human cytomegalovirus/HHV-5 protein UL69. Interacts with MX1 2020-06-12T23:07:37Z 2020-07-28T02:30:49Z 0 0 0 5278 CDBP05277 Dihydrofolate reductase, mitochondrial Q86XF0 true false Enzyme DHFRL1 21619.88 7.972 Key enzyme in folate metabolism. Contributes to the de novo mitochondrial thymidylate biosynthesis pathway. Required to prevent uracil accumulation in mtDNA. Binds its own mRNA and that of DHFR. 3 3q11.1 HGNC:27309 true hsa:200895 NP_001182572.1:NM_001195643.1;NP_789785.1:NM_176815.4 Expressed in numerous cell lines. 2020-06-12T23:07:37Z 2020-07-28T02:30:49Z 0 0 0 5279 CDBP05278 Ethylmalonyl-CoA decarboxylase Q9NTX5 true false Enzyme ECHDC1 32996.93 8.213 Decarboxylases ethylmalonyl-CoA decarboxylase, a potentially toxic metabolite, to form butyryl-CoA, suggesting it might be involved in metabolite proofreading. Also has methylmalonyl-CoA decarboxylase activityx at lower level. 6 6q22.33 HGNC:21489 true hsa:55862 NP_001002030.1:NM_001002030.1;NP_001099014.1:NM_001105544.1;NP_001099015.1:NM_001105545.1;NP_001132982.1:NM_001139510.1;NP_060949.2:NM_018479.3 2020-06-12T23:07:37Z 2020-07-28T02:30:49Z 0 0 0 5280 CDBP05279 Elongation of very long chain fatty acids protein 3 Q9HB03 false false Enzyme ELOVL3 31500.285 9.513 Condensing enzyme that elongates saturated and monounsaturated very long chain fatty acids (VLCFAs). Highest activity toward C18 acyl-CoAs, especially C18:0 acyl-CoAs. 10 10q24.32 HGNC:18047 true hsa:83401 ENSG00000119915-MONOMER NP_689523.1:NM_152310.1 Testis. 2020-06-12T23:07:37Z 2020-07-28T02:34:33Z 0 0 0 5281 CDBP05280 Elongation of very long chain fatty acids protein 5 Q9NYP7 false false Enzyme ELOVL5 38402.505 9.533 Condensing enzyme that catalyzes the synthesis of monounsaturated and of polyunsaturated very long chain fatty acids Acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C18:3(n-6) acyl-CoA. 6 6p21.1-p12.1 HGNC:21308 true hsa:60481 ENSG00000012660-MONOMER NP_001229757.1:NM_001242828.1;NP_001229759.1:NM_001242830.1;NP_068586.1:NM_021814.4 Ubiquitous. Highly expressed in the adrenal gland and testis. Weakly expressed in prostate, lung and brain. 2020-06-12T23:07:37Z 2020-07-28T02:34:33Z 0 0 0 5282 CDBP05281 Elongation of very long chain fatty acids protein 6 Q9H5J4 false false Enzyme ELOVL6 31375.81 9.369 Condensing enzyme that catalyzes the synthesis of saturated and monounsaturated fatty acids. Highest activity toward C16:0 acyl-CoAs. 4 4q25 HGNC:15829 true hsa:79071 HS10142-MONOMER NP_001124193.1:NM_001130721.1;NP_076995.1:NM_024090.2 Ubiquitous. 2020-06-12T23:07:37Z 2020-07-28T02:34:33Z 0 0 0 5283 CDBP05282 Elongation of very long chain fatty acids protein 7 A1L3X0 false false Enzyme ELOVL7 33356.06 9.266 Condensing enzyme that catalyzes the synthesis of saturated and polyunsaturated very long chain fatty acids. Highest activity toward C18 acyl-CoAs, especially C18:3(n-3) acyl-CoAs and C18:3(n-6)-CoAs. Also active toward C20:4-, C18:0-, C18:1-, C18:2- and C16:0-CoAs, and weakly toward C20:0-CoA. Little or no activity toward C22:0-, C24:0-, or C26:0-CoAs. 5 5q12.1 HGNC:26292 true hsa:79993 NP_001098028.1:NM_001104558.1;NP_079206.2:NM_024930.2 Expressed in most tissues except heart and skeletal muscle. 2020-06-12T23:07:37Z 2020-07-28T02:34:33Z 0 0 0 5284 CDBP05283 EGF domain-specific O-linked N-acetylglucosamine transferase Q5NDL2 true false Enzyme EOGT 52296.26 6.818 Catalyzes the transfer of a single N-acetylglucosamine from UDP-GlcNAc to a serine or threonine residue in extracellular proteins resulting in their modification with a beta-linked N-acetylglucosamine (O-GlcNAc). Specifically glycosylates the Thr residue located between the fifth and sixth conserved cysteines of folded EGF-like domains (By similarity). 3 3p14.1 HGNC:28526 true hsa:285203 NP_775925.1:NM_173654.1 2020-06-12T23:07:37Z 2020-07-28T02:30:49Z 0 0 0 5285 CDBP05284 DNA excision repair protein ERCC-6-like Q2NKX8 false false Enzyme ERCC6L 141101.715 5.309 DNA helicase that acts as an essential component of the spindle assembly checkpoint. Contributes to the mitotic checkpoint by recruiting MAD2 to kinetochores and monitoring tension on centromeric chromatin. Acts as a tension sensor that associates with catenated DNA which is stretched under tension until it is resolved during anaphase. X Xq13.1 HGNC:20794 true hsa:54821 NP_060139.2:NM_017669.2 Interacts with PLK1, which phosphorylates it. Both proteins are mutually dependent on each other for correct subcellular localization 2020-06-12T23:07:37Z 2020-07-28T02:34:33Z 0 0 0 5286 CDBP05285 TFIIH basal transcription factor complex helicase XPB subunit P19447 true false Enzyme ERCC3 89276.985 7.227 ATP-dependent 3'-5' DNA helicase, component of the core-TFIIH basal transcription factor, involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Acts by opening DNA either around the RNA transcription start site or the DNA damage. 2 2q21 HGNC:3435 true hsa:2071 NP_000113.1:NM_000122.1 One of the 6 subunits forming the core-TFIIH basal transcription factor which associates with the CAK complex composed of CDK7, CCNH/cyclin H and MNAT1 to form the TFIIH basal transcription factor. Interacts with PUF60. Interacts with ATF7IP. Interacts with Epstein-Barr virus EBNA2 2020-06-12T23:07:37Z 2020-07-28T02:30:50Z 0 0 1 5287 CDBP05286 Fanconi anemia group J protein Q9BX63 false false Enzyme BRIP1 140866.21 6.917 DNA-dependent ATPase and 5' to 3' DNA helicase required for the maintenance of chromosomal stability. Acts late in the Fanconi anemia pathway, after FANCD2 ubiquitination. Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1. 1T29;3AL3 17 17q22.2 HGNC:20473 true hsa:83990 NP_114432.2:NM_032043.2 Ubiquitously expressed, with highest levels in testis. 4Fe-4S cluster Binds directly to the BRCT domains of BRCA1 2020-06-12T23:07:37Z 2020-07-28T02:34:33Z 0 1 1 5288 CDBP05287 Fanconi anemia group M protein Q8IYD8 false false Enzyme FANCM 232189.375 6.108 ATPase required for FANCD2 ubiquitination, a key reaction in DNA repair. Binds to ssDNA but not to dsDNA. Recruited to forks stalled by DNA interstrand cross-links, and required for cellular resistance to such lesions. 4DAY;4DRB 14 14q21.2 HGNC:23168 true hsa:57697 NP_065988.1:NM_020937.2 Belongs to the multisubunit FA complex composed of APITD1, FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9, FANCM, FAAP24 and STRA13/CENPX. The complex is not found in FA patients. Interacts with APITD1/CENPS, FAAP24 and EME1 2020-06-12T23:07:37Z 2020-07-28T02:34:33Z 0 0 0 5289 CDBP05288 F-box only protein 18 Q8NFZ0 false false Enzyme FBXO18 110906.485 7.408 DNA-dependent ATPase. Unwinds double-stranded DNA in a 3' to 5' direction. Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation. 10 10p15.1 HGNC:13620 true hsa:84893 NP_001245381.1:NM_001258452.1;NP_001245382.1:NM_001258453.1;NP_116196.3:NM_032807.4;NP_835363.1:NM_178150.2 Part of a SCF E3 ubiquitin ligase complex consisting of SKP1, CUL1, RBX1 and FBXO18. Interacts with SKP1 2020-06-12T23:07:37Z 2020-07-28T02:34:33Z 0 0 0 5290 CDBP05289 Adenosine monophosphate-protein transferase FICD Q9BVA6 true false Enzyme FICD 51777.595 7.719 Adenylyltransferase that mediates the addition of adenosine 5'-monophosphate (AMP) to specific residues of target proteins. Able to inactivate Rho GTPases in vitro by adding AMP to RhoA, Rac and Cdc42. It is however unclear whether it inactivates GTPases in vivo and physiological substrates probably remain to be identified. 12 12q24.1 HGNC:18416 true hsa:11153 NP_009007.2:NM_007076.2 Ubiquitous. Interacts with HD 2020-06-12T23:07:37Z 2020-07-28T02:30:50Z 0 0 0 5291 CDBP05290 Fucose mutarotase A2VDF0 true false Enzyme FUOM 16764.555 5.581 Involved in the interconversion between alpha- and beta-L-fucoses. L-Fucose (6-deoxy-L-galactose) exists as alpha-L-fucose (29.5%) and beta-L-fucose (70.5%), the beta-form is metabolized through the salvage pathway. GDP-L-fucose formed either by the de novo or salvage pathways is transported into the endoplasmic reticulum, where it serves as a substrate for N- and O-glycosylations by fucosyltransferases. Fucosylated structures expressed on cell surfaces or secreted in biological fluids are believed to play a critical role in cell-cell adhesion and recognition processes. 10 10q26.3 HGNC:24733 true hsa:282969 NP_001091953.1:NM_001098483.1;NP_940874.2:NM_198472.2 Mainly homodimer, but exists also as homotetramer, homooctamer, and homodecamer. The homodimeric form seems catalytically inactive 2020-06-12T23:07:37Z 2020-07-28T02:30:50Z 0 0 0 5292 CDBP05291 Galactoside 3(4)-L-fucosyltransferase P21217 true false Enzyme FUT3 42116.69 9.006 May catalyze alpha-1,3 and alpha-1,4 glycosidic linkages involved in the expression of Vim-2, Lewis A, Lewis B, sialyl Lewis X and Lewis X/SSEA-1 antigens. May be involved in blood group Lewis determination; Lewis-positive (Le(+)) individuals have an active enzyme while Lewis-negative (Le(-)) individuals have an inactive enzyme. Also acts on the corresponding 1,4-galactosyl derivative, forming 1,3-L-fucosyl links. 19 19p13.3 HGNC:4014 true hsa:2525 NP_000140.1:NM_000149.3;NP_001091108.1:NM_001097639.1;NP_001091109.1:NM_001097640.1;NP_001091110.1:NM_001097641.1 Highly expressed in stomach, colon, small intestine, lung and kidney and to a lesser extent in salivary gland, bladder, uterus and liver. 2020-06-12T23:07:37Z 2020-07-28T02:30:50Z 0 0 0 5293 CDBP05292 Uncharacterized protein C5orf4 Q96IV6 false false Enzyme C5orf4 HGNC:1334 true hsa:10826 NP_115761.2:NM_032385.3 2020-06-12T23:07:37Z 2020-07-28T02:34:33Z 0 0 0 5294 CDBP05293 Glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial O43716 true false Enzyme GATC 15085.885 5.041 Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln). 12 12q24.31 HGNC:25068 true hsa:283459 NP_789788.1:NM_176818.2 Subunit of the heterotrimeric GatCAB amidotransferase (AdT) complex, composed of A (QRSL1), B (PET112) and C (GATC) subunits 2020-06-12T23:07:37Z 2020-07-28T02:30:50Z 0 0 0 5295 CDBP05294 Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase Q02742 true false Enzyme GCNT1 49798.425 8.418 Forms critical branches in O-glycans. 9 9q13 HGNC:4203 true hsa:2650 NP_001091102.1:NM_001097633.1;NP_001091103.1:NM_001097634.1;NP_001091104.1:NM_001097635.1;NP_001091105.1:NM_001097636.1;NP_001481.2:NM_001490.4 Highly expressed in activated T-lymphocytes and myeloid cells. 2020-06-12T23:07:37Z 2020-07-28T02:30:50Z 0 0 0 5296 CDBP05295 Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 3 O95395 true false Enzyme GCNT3 50863.175 8.252 Glycosyltransferase that can synthesize all known mucin beta 6 N-acetylglucosaminides. Mediates core 2 and core 4 O-glycan branching, 2 important steps in mucin-type biosynthesis. Has also I-branching enzyme activity by converting linear into branched poly-N-acetyllactosaminoglycans, leading to introduce the blood group I antigen during embryonic development. 15 15q21.3 HGNC:4205 true hsa:9245 NP_004742.1:NM_004751.2 Primarily expressed in mucus-secreting tissues. Expressed in colon, kidney, small intestine, trachea, and stomach, where mucin is produced. 2020-06-12T23:07:37Z 2020-07-28T02:30:50Z 0 0 0 5297 CDBP05296 Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 Q9P109 true false Enzyme GCNT4 53051.69 8.245 Glycosyltransferase that mediates core 2 O-glycan branching, an important step in mucin-type biosynthesis. Does not have core 4 O-glycan or I-branching enzyme activity. 5 5q12 HGNC:17973 true hsa:51301 NP_057675.1:NM_016591.2 Predominantly expressed in thymus. Weakly expressed in pancreas, peripheral blood leukocytes, placenta, small intestine and stomach. Barely detectable in liver, spleen, lung and lymph node. 2020-06-12T23:07:37Z 2020-07-28T02:30:50Z 0 0 0 5298 CDBP05297 GDP-D-glucose phosphorylase 1 Q6ZNW5 true false Enzyme GDPGP1 42362.06 6.469 Specific and highly efficient GDP-D-glucose phosphorylase regulating the levels of GDP-D-glucose in cells. 15 15q26.1 HGNC:34360 true hsa:390637 G66-31756-MONOMER NP_001013679.2:NM_001013657.2 2020-06-12T23:07:37Z 2020-07-28T02:30:50Z 0 0 0 5299 CDBP05298 Gamma-glutamylaminecyclotransferase Q9BVM4 true false Enzyme GGACT 17328.44 6.88 Contributes to degradation of proteins cross-linked by transglutaminases. Degrades the cross-link between a lysine and a glutamic acid residue from two proteins that have been cross-linked by transglutaminases. Catalyzes the formation of 5-oxoproline from L-gamma-glutamyl-L-epsilon-lysine. Inactive with L-gamma-glutamyl-alpha-amino acid substrates such as L-gamma-glutamyl-L-alpha-cysteine and L-gamma-glutamyl-L-alpha-alanine. 3JUB;3JUC;3JUD 13 13q32.3 HGNC:25100 true hsa:87769 NP_001182016.1:NM_001195087.1;NP_149101.1:NM_033110.2 Monomer 2020-06-12T23:07:37Z 2020-07-28T02:30:50Z 0 0 0 5300 CDBP05299 Gamma-glutamyltranspeptidase 2 P36268 true false Enzyme GGT2 Initiates extracellular glutathione (GSH) breakdown; catalyzes the transfer of the glutamyl moiety of glutathione to amino acids and dipeptide acceptors (By similarity). HGNC:4251 true Highly expressed in fetal and adult kidney and liver. 2020-06-12T23:07:37Z 2020-07-28T02:30:50Z 0 0 0 5301 CDBP05300 Putative gamma-glutamyltranspeptidase 3 A6NGU5 true false Enzyme GGT3P Initiates extracellular glutathione (GSH) breakdown; catalyzes the transfer of the glutamyl moiety of glutathione to amino acids and dipeptide acceptors (By similarity). HGNC:4252 true 2020-06-12T23:07:37Z 2020-07-28T02:30:50Z 0 0 0 5302 CDBP05301 Poly(A) RNA polymerase GLD2 Q6PIY7 true false Enzyme PAPD4 56027.175 9.375 Cytoplasmic poly(A) RNA polymerase that adds successive AMP monomers to the 3'-end of specific RNAs, forming a poly(A) tail. In contrast to the canonical nuclear poly(A) RNA polymerase, it only adds poly(A) to selected cytoplasmic mRNAs. Does not play a role in replication-dependent histone mRNA degradation. 5 5q14.1 HGNC:26776 true hsa:167153 NP_001107865.1:NM_001114393.1;NP_001107866.1:NM_001114394.1;NP_776158.2:NM_173797.3 Expressed in brain. Within brain, it is expressed in cerebellum, hippocampus and medulla. Magnesium or manganese Interacts with CPEB1, CPEB2, CPSF1 and PABPC1 2020-06-12T23:07:37Z 2020-07-28T02:30:50Z 0 1 0 5303 CDBP05302 Glycerol-3-phosphate transporter P57057 false true Transporter SLC37A1 57647.52 8.31 21 21q22.3 HGNC:11024 true hsa:54020 NP_061837.3:NM_018964.3 Expressed in numerous tissues, with highest expression in kidney, bone marrow, spleen, liver, small intestine, as well as in fetal brain, liver and spleen. 2020-06-12T23:07:37Z 2020-07-28T02:32:15Z 0 0 0 5304 CDBP05303 N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase, isoform A Q8N0V5 true false Enzyme GCNT2 45873.115 7.181 Branching enzyme that converts linear into branched poly-N-acetyllactosaminoglycans. Introduces the blood group I antigen during embryonic development. It is closely associated with the development and maturation of erythroid cells. The expression of the blood group I antigen in erythrocytes is determined by isoform C. 6 6p24.2 HGNC:4204 true hsa:2651 NP_663624.1:NM_145649.4 Isoform B is expressed in lens epithelium cells. Isoform C is expressed in reticulocytes. 2020-06-12T23:07:37Z 2020-07-28T02:30:50Z 0 0 0 5305 CDBP05304 N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase, isoform C Q8NFS9 true false Enzyme GCNT2 45854.405 8.215 Branching enzyme that converts linear into branched poly-N-acetyllactosaminoglycans. Introduces the blood group I antigen during embryonic development. It is closely associated with the development and maturation of erythroid cells. The expression of the blood group I antigen in erythrocytes is determined by isoform C. 6 6p24.2 HGNC:4204 true hsa:2651 NP_001482.1:NM_001491.2;NP_663630.2:NM_145655.3 2020-06-12T23:07:37Z 2020-07-28T02:30:50Z 0 0 0 5306 CDBP05305 Glycerophosphocholine phosphodiesterase GPCPD1 Q9NPB8 true false Enzyme GPCPD1 76034.185 5.527 May be involved in the negative regulation of skeletal muscle differentiation, independently of its glycerophosphocholine phosphodiesterase activity (By similarity). 2Z0B 20 20p12.3 HGNC:26957 true hsa:56261 NP_062539.1:NM_019593.3 Widely expressed, with highest expression in spinal chord. 2020-06-12T23:07:37Z 2020-07-28T02:30:50Z 0 0 0 5307 CDBP05306 Probable glutathione peroxidase 8 Q8TED1 true false Enzyme GPX8 23880.83 9.353 3CYN;3KIJ 5 5q11.2 HGNC:33100 true hsa:493869 NP_001008398.2:NM_001008397.2 2020-06-12T23:07:37Z 2020-07-28T02:30:50Z 0 0 0 5308 CDBP05307 Glutathione S-transferase theta-2B P0CG30 true false Enzyme GSTT2B 27506.715 6.406 Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Has a sulfatase activity. 1LJR;2LJR;3LJR 22 22q11.23 HGNC:33437 true hsa:653689 NP_000845.1:NM_000854.3;NP_001074312.1:NM_001080843.2 Expressed at low levels in liver. In lung, expressed at low levels in ciliated bronchiolar cells, alveolar macrophages and alveolar type II cells. Homodimer 2020-06-12T23:07:37Z 2020-07-28T02:30:50Z 0 0 0 5309 CDBP05308 Glutathione S-transferase theta-4 A8MPT4 true false Enzyme GSTT4 Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles (By similarity). true Homodimer 2020-06-12T23:07:37Z 2020-07-28T02:30:50Z 0 0 0 5310 CDBP05309 Procollagen galactosyltransferase 1 Q8NBJ5 true false Enzyme GLT25D1 71635.385 7.311 Has a beta-galactosyltransferase activity; transfers beta-galactose to hydroxylysine residues of collagen. 19 19p13.11 HGNC:26182 true hsa:79709 NP_078932.2:NM_024656.2 Ubiquitous with higher levels in placenta, heart, lung and spleen. 2020-06-12T23:07:37Z 2020-07-28T02:30:51Z 0 0 0 5311 CDBP05310 Procollagen galactosyltransferase 2 Q8IYK4 true false Enzyme GLT25D2 72923.665 6.199 Has a beta-galactosyltransferase activity; transfers beta-galactose to hydroxylysine residues on collagen. 1 1q25 HGNC:16790 true hsa:23127 NP_055916.1:NM_015101.2 Expressed in brain and skeletal muscle. 2020-06-12T23:07:37Z 2020-07-28T02:30:51Z 0 0 0 5312 CDBP05311 Glycosyltransferase-like domain-containing protein 2 Q8NAT1 true false Enzyme GTDC2 66614.805 8.575 3 3p22.1 HGNC:25902 true hsa:84892 NP_116195.2:NM_032806.5 Highly expressed in the brain, muscle, heart, and kidney in both fetus and adult. In the brain, highest expression in the cortex and cerebellum. Highly expressed in the pancreas. 2020-06-12T23:07:37Z 2020-07-28T02:30:51Z 0 0 0 5313 CDBP05312 Solute carrier family 2, facilitated glucose transporter member 10 O95528 false false Enzyme SLC2A10 56910.77 8.584 Facilitative glucose transporter. 20 20q13.1 HGNC:13444 true hsa:81031 NP_110404.1:NM_030777.3 Widely expressed; highest levels in liver and pancreas. 2020-06-12T23:07:37Z 2020-07-28T02:34:34Z 0 0 0 5314 CDBP05313 Solute carrier family 2, facilitated glucose transporter member 11 Q9BYW1 false true Transporter SLC2A11 53702.055 8.182 Facilitative glucose transporter. 22 22q11.23 HGNC:14239 true hsa:66035 NP_001020109.1:NM_001024938.2;NP_001020110.1:NM_001024939.2;NP_110434.3:NM_030807.3 Expressed in heart and skeletal muscle. 2020-06-12T23:07:37Z 2020-07-28T02:32:15Z 0 0 0 5315 CDBP05314 Solute carrier family 2, facilitated glucose transporter member 12 Q8TD20 false true Transporter SLC2A12 66965.7 8.363 Facilitative glucose transporter (By similarity). 6 6q23.2 HGNC:18067 true hsa:154091 NP_660159.1:NM_145176.2 Predominantly expressed in skeletal muscle, heart and prostate, with lower levels in brain, placenta and kidney. 2020-06-12T23:07:37Z 2020-07-28T02:32:15Z 0 0 0 5316 CDBP05315 Solute carrier family 2, facilitated glucose transporter member 14 Q8TDB8 false true Transporter SLC2A14 56319.575 7.82 Facilitative glucose transporter (By similarity). May have a specific function related to spermatogenesis. 12 12p13.31 HGNC:18301 true hsa:144195 NP_703150.1:NM_153449.2 Expressed mainly in testis. 2020-06-12T23:07:37Z 2020-07-28T02:32:15Z 0 0 0 5317 CDBP05316 Solute carrier family 2, facilitated glucose transporter member 3 P11169 false true Transporter SLC2A3 53923.785 7.198 Facilitative glucose transporter. Probably a neuronal glucose transporter. 12 12p13.3 HGNC:11007 true hsa:6515 NP_008862.1:NM_006931.2 Highly expressed in brain. Expressed in many tissues. 2020-06-12T23:07:37Z 2020-07-28T02:32:15Z 0 0 0 5318 CDBP05317 Solute carrier family 2, facilitated glucose transporter member 4 P14672 false true Transporter SLC2A4 54786.79 6.931 Insulin-regulated facilitative glucose transporter. 17 17p13 HGNC:11009 true hsa:6517 NP_001033.1:NM_001042.2 Skeletal and cardiac muscles; brown and white fat. Interacts with NDUFA9 . Binds to DAXX. Interacts via its N-terminus with SRFBP1 2020-06-12T23:07:37Z 2020-07-28T02:32:15Z 0 0 0 5319 CDBP05318 Solute carrier family 2, facilitated glucose transporter member 5 P22732 false true Transporter SLC2A5 26518.715 7.461 Cytochalasin B-sensitive carrier. Seems to function primarily as a fructose transporter. 1YG1 1 1p36.2 HGNC:11010 true hsa:6518 NP_001129057.1:NM_001135585.1;NP_003030.1:NM_003039.2 Expressed in small intestine, and at much lower levels in kidney, skeletal muscle, and adipose tissue. 2020-06-12T23:07:37Z 2020-07-28T02:32:15Z 0 0 0 5320 CDBP05319 Solute carrier family 2, facilitated glucose transporter member 6 Q9UGQ3 false true Transporter SLC2A6 48039.99 9.011 Facilitative glucose transporter; binds cytochalasin B with low affinity. 9 9q34 HGNC:11011 true hsa:11182 NP_001138571.1:NM_001145099.1;NP_060055.2:NM_017585.3 Highly expressed in brain, spleen and peripheral blood leukocytes. 2020-06-12T23:07:37Z 2020-07-28T02:32:15Z 0 0 0 5321 CDBP05320 Solute carrier family 2, facilitated glucose transporter member 7 Q6PXP3 false true Transporter SLC2A7 55726.915 8.41 High-affinity transporter for glucose and fructose Does not transport galactose, 2-deoxy-d-glucose and xylose. 1YG7 1 1p36.2 HGNC:13445 true hsa:155184 NP_997303.2:NM_207420.2 Expressed in small intestine and colon. Weakly expressed in testis and prostate. 2020-06-12T23:07:37Z 2020-07-28T02:32:15Z 0 0 0 5322 CDBP05321 Solute carrier family 2, facilitated glucose transporter member 8 Q9NY64 false true Enzyme SLC2A8 50818.54 7.607 Insulin-regulated facilitative glucose transporter. Binds cytochalasin B in a glucose-inhibitable manner. Seems to be a dual-specific sugar transporter as it is inhibitable by fructose (By similarity). 9 9q33.3 HGNC:13812 true hsa:29988 NP_055395.2:NM_014580.4 Highly expressed in testis, but not in testicular carcinoma. Lower amounts present in most other tissues. Interacts with AP2B1 2020-06-12T23:07:37Z 2020-07-28T02:34:34Z 1 0 0 5323 CDBP05322 Solute carrier family 2, facilitated glucose transporter member 9 Q9NRM0 false true Transporter SLC2A9 55720.81 8.508 Transport urate and fructose. May have a role in the urate reabsorption by proximal tubules. Also transports glucose at low rate. 4 4p16.1 HGNC:13446 true hsa:56606 NP_001001290.1:NM_001001290.1;NP_064425.2:NM_020041.2 Most strongly expressed in basolateral membranes of proximal renal tubular cells, liver and placenta. Also detected in lung, blood leukocytes, heart skeletal muscle and chondrocytes from articular cartilage. Isoform 2 is only detected in the apical membranes of polarized renal tubular cells and placenta. Isoform 1 and isoform 2 are detected in kidney membrane (at protein level). 2020-06-12T23:07:37Z 2020-07-28T02:32:15Z 0 0 0 5324 CDBP05323 Glucoside xylosyltransferase 1 Q4G148 true false Enzyme GXYLT1 46799.87 8.955 Glycosyltransferase which elongates the O-linked glucose attached to EGF-like repeats in the extracellular domain of Notch proteins by catalyzing the addition of xylose. 12 12q12 HGNC:27482 true hsa:283464 NP_001093120.1:NM_001099650.1;NP_775872.1:NM_173601.1 2020-06-12T23:07:37Z 2020-07-28T02:30:51Z 0 0 0 5325 CDBP05324 Glucoside xylosyltransferase 2 A0PJZ3 true false Enzyme GXYLT2 51055.05 9.769 Glycosyltransferase which elongates the O-linked glucose attached to EGF-like repeats in the extracellular domain of Notch proteins by catalyzing the addition of xylose. 3 3p13 HGNC:33383 true hsa:727936 NP_001073862.1:NM_001080393.1 2020-06-12T23:07:37Z 2020-07-28T02:30:51Z 0 0 0 5326 CDBP05325 Very-long-chain (3R)-3-hydroxyacyl-[acyl-carrier protein] dehydratase 1 B0YJ81 true false Enzyme PTPLA 32387.485 9.035 Responsible for the dehydration step in very long-chain fatty acid (VLCFA) synthesis. 10 10p14-p13 HGNC:9639 true hsa:9200 NP_055056.3:NM_014241.3 Highly expressed in the myocardium, and to a lesser extent in skeletal and smooth muscular tissues including those from stomach, jejunum, and bladder. Interacts with the condensation enzymes of the ELOVL family 2020-06-12T23:07:37Z 2020-07-28T02:30:51Z 0 0 0 5327 CDBP05326 Very-long-chain (3R)-3-hydroxyacyl-[acyl-carrier protein] dehydratase 2 Q6Y1H2 true false Enzyme PTPLB 28368.145 9.548 Responsible for the dehydration step in very long-chain fatty acid (VLCFA) synthesis. 3 3q21.1 HGNC:9640 true hsa:201562 NP_940684.1:NM_198402.3 Highly expressed in testis, spleen, prostate, colon and heart, followed by moderate expression in thymus, ovary, small intestine, peripheral blood leukocytes, liver, skeletal muscle and pancreas. Weakly detected in kidney, placenta, brain and lung. Interacts with the condensation enzymes of the ELOVL family. Interacts with BCAP31 2020-06-12T23:07:37Z 2020-07-28T02:30:51Z 0 0 0 5328 CDBP05327 Very-long-chain (3R)-3-hydroxyacyl-[acyl-carrier protein] dehydratase 4 Q5VWC8 true false Enzyme PTPLAD2 27519.565 8.579 Responsible for the dehydration step in very long-chain fatty acid (VLCFA) synthesis. 9 9p21.3 HGNC:20920 true hsa:401494 NP_001010915.2:NM_001010915.3 Highly expressed in leukocytes, and low expression in heart, spleen, kidney, and placenta. Interacts with the condensation enzymes of the ELOVL family 2020-06-12T23:07:37Z 2020-07-28T02:30:51Z 0 0 0 5329 CDBP05328 Pseudouridine-5'-monophosphatase Q08623 true false Enzyme HDHD1 27572.48 5.469 Dephosphorylates pseudouridine 5'-phosphate, a potential intermediate in rRNA degradation. Pseudouridine is then excreted intact in urine. 3L5K X Xp22.32 HGNC:16818 true hsa:8226 NP_001129037.1:NM_001135565.1;NP_001171606.1:NM_001178135.1;NP_001171607.1:NM_001178136.1;NP_036212.3:NM_012080.4 Magnesium 2020-06-12T23:07:37Z 2020-07-28T02:30:51Z 0 1 0 5330 CDBP05329 Helicase POLQ-like Q8TDG4 true false Enzyme HELQ 124160.21 6.521 DNA-dependent ATPase and 5' to 3' DNA helicase. 4 4q21.23 HGNC:18536 true hsa:113510 NP_598375.2:NM_133636.2 Hexamer 2020-06-12T23:07:37Z 2020-07-28T02:30:51Z 0 0 0 5331 CDBP05330 HemK methyltransferase family member 1 Q9Y5R4 true false Enzyme HEMK1 N5-glutamine methyltransferase responsible for the methylation of the GGQ triplet of the mitochondrial translation release factor MTRF1L. HGNC:24923 true hsa:51409 NP_057257.1:NM_016173.3 2020-06-12T23:07:37Z 2020-07-28T02:30:51Z 0 0 0 5332 CDBP05331 Small RNA 2'-O-methyltransferase Q5T8I9 true false Enzyme HENMT1 44524.2 5.289 Methyltransferase that adds a 2'-O-methyl group at the 3'-end of piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons and other repeated sequence elements. This probably protects the 3'-end of piRNAs from uridylation activity and subsequent degradation. Stabilization of piRNAs is essential for gametogenesis (By similarity). 1 1p13.3 HGNC:26400 true hsa:113802 NP_001096062.1:NM_001102592.1;NP_653185.2:NM_144584.2 magnesium ion 2020-06-12T23:07:37Z 2020-07-28T02:30:51Z 0 1 0 5333 CDBP05332 Hexosaminidase D Q8WVB3 true false Enzyme HEXDC Has hexosaminidase activity. HGNC:26307 true hsa:284004 NP_775891.2:NM_173620.2 Homodimer; disulfide-linked 2020-06-12T23:07:37Z 2020-07-28T02:30:51Z 0 0 0 5334 CDBP05333 Probable ATP-dependent DNA helicase HFM1 A2PYH4 true false Enzyme HFM1 162608.36 7.092 1 1p22.2 HGNC:20193 true hsa:164045 NP_001017975.3:NM_001017975.3 2020-06-12T23:07:37Z 2020-07-28T02:30:51Z 0 0 0 5335 CDBP05334 Heparan-alpha-glucosaminide N-acetyltransferase Q68CP4 true false Enzyme HGSNAT 70495.57 8.003 Lysosomal acetyltransferase that acetylates the non-reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase. 8 8p11.1 HGNC:26527 true hsa:138050 NP_689632.2:NM_152419.2 Widely expressed, with highest level in leukocytes, heart, liver, skeletal muscle, lung, placenta and liver. Homooligomer. Homooligomerization is necessary for enzyme activity 2020-06-12T23:07:37Z 2020-07-28T02:30:52Z 0 0 0 5336 CDBP05335 Putative hexokinase HKDC1 Q2TB90 true false Enzyme HKDC1 102513.88 7.24 10 10q22.1 HGNC:23302 true hsa:80201 NP_079406.3:NM_025130.3 2020-06-12T23:07:37Z 2020-07-28T02:30:52Z 0 0 0 5337 CDBP05336 Probable 4-hydroxy-2-oxoglutarate aldolase, mitochondrial Q86XE5 true false Enzyme HOGA1 17953.475 7.723 Catalyzes the final step in the metabolic pathway of hydroxyproline (Probable). 3S5N;3S5O 10 10q24.2 HGNC:25155 true hsa:112817 NP_001128142.1:NM_001134670.1;NP_612422.2:NM_138413.3 Homotetramer 2020-06-12T23:07:37Z 2020-07-28T02:30:52Z 0 0 0 5338 CDBP05337 Inactive heparanase-2 Q8WWQ2 true false Enzyme HPSE2 Binds heparin and heparan sulfate with high affinity, but lacks heparanase activity. Inhibits HPSE, possibly by competing for its substrates (in vitro). HGNC:18374 true hsa:60495 NP_001159716.1:NM_001166244.1;NP_001159717.1:NM_001166245.1;NP_001159718.1:NM_001166246.1;NP_068600.4:NM_021828.4 Widely expressed, with the highest expression in brain, mammary gland, prostate, small intestine, testis and uterus. In the central nervous system, expressed in the spinal chord, caudate nucleus, thalamus, substantia nigra, medulla oblongata, putamen and pons. In the urinary bladder, expressed in longitudinal and circular layers of detrusor muscle. Found both in normal and cancer tissues. Interacts with HPSE. Interacts with SDC1 (via glycan chains) 2020-06-12T23:07:37Z 2020-07-28T02:30:52Z 0 0 0 5339 CDBP05338 HRAS-like suppressor 2 Q9NWW9 false false Enzyme HRASLS2 17393.695 9.267 Exhibits PLA1/2 activity, catalyzing the calcium-independent hydrolysis of acyl groups in various phosphotidylcholines (PC) and phosphatidylethanolamine (PE). For most substrates, PLA1 activity is much higher than PLA2 activity. Catalyzes N-acylation of PE using both sn-1 and sn-2 palmitoyl groups of PC as acyl donor. Also catalyzes O-acylation converting lyso-PC into PC. 4DPZ 11 11q12.3 HGNC:17824 true hsa:54979 NP_060348.1:NM_017878.1 Expressed in liver, kidney, small intestine testis and colon (PubMed:19615464). Undetectable in testis, placenta, salivary gland and fetal brain (PubMed:18163183). 2020-06-12T23:07:37Z 2020-07-28T02:34:34Z 0 0 0 5340 CDBP05339 HRAS-like suppressor 3 P53816 false false Enzyme PLA2G16 17936.515 7.98 Exhibits PLA1/2 activity, catalyzing the calcium-independent hydrolysis of acyl groups in various phosphotidylcholines (PC) and phosphatidylethanolamine (PE). For most substrates, PLA1 activity is much higher than PLA2 activity. Specifically catalyzes the release of fatty acids from phospholipids in adipose tissue (By similarity). N- and O-acylation activity is hardly detectable. Might decrease protein phosphatase 2A (PP2A) activity. 2KYT;4DOT;4FA0 11 11q12.3 HGNC:17825 true hsa:11145 NP_001121675.1:NM_001128203.1;NP_009000.2:NM_007069.3 Widely expressed. low expression, if any, in hematopoietic cells and thymus. In testis, confined to round spermatids. Expressed in normal ovarian epithelial cells. Down-regulated in some ovarian carcinomas and testicular germ cell tumors. Interacts with PPP2R1A; this interaction might decrease PP2A activity 2020-06-12T23:07:37Z 2020-07-28T02:34:34Z 0 0 0 5341 CDBP05340 Heparan sulfate glucosamine 3-O-sulfotransferase 6 Q96QI5 true false Enzyme HS3ST6 Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to heparan sulfate. The substrate-specific O-sulfation generates an enzyme-modified heparan sulfate which acts as a binding receptor to Herpes Simplex Virus-1 (HSV-1) and permits its entry. Unlike 3-OST-1, does not convert non-anticoagulant heparan sulfate to anticoagulant heparan sulfate. HGNC:14178 true 2020-06-12T23:07:37Z 2020-07-28T02:30:52Z 0 0 0 5342 CDBP05341 Hydroxyacyl-thioester dehydratase type 2, mitochondrial P86397 true false Enzyme RPP14 Mitochondrial 3-hydroxyacyl-thioester dehydratase, which may be involved in fatty acid biosynthesis. 3IR3 HGNC:30327 true Highly expressed in heart and liver. Expressed at lower levels in skeletal muscle, spleen, kidney and placenta. 2020-06-12T23:07:37Z 2020-07-28T02:30:52Z 0 0 0 5343 CDBP05342 Hyaluronidase-3 O43820 true false Enzyme HYAL3 HGNC:5322 true hsa:8372 ENSG00000114366-MONOMER NP_001186958.1:NM_001200029.1;NP_001186959.1:NM_001200030.1;NP_001186960.1:NM_001200031.1;NP_001186961.1:NM_001200032.1;NP_003540.2:NM_003549.3 Bone marrow, testis and kidney. Isoform 4 is detected in all bladder tumor and prostate tumor cells. 2020-06-12T23:07:37Z 2020-07-28T02:30:52Z 0 0 0 5344 CDBP05343 Hyaluronidase-4 Q2M3T9 true false Enzyme HYAL4 Endo-hyaluronidase that degrades hyaluronan to smaller oligosaccharide fragments. Has also chondroitin sulfate hydrolase activity, The best substrate being the galactosaminidic linkage in the sequence of a trisulfated tetrasaccharide. HGNC:5323 true hsa:23553 HS02883-MONOMER NP_036401.2:NM_012269.2 Detected in placenta and skeletal muscle. 2020-06-12T23:07:38Z 2020-07-28T02:30:52Z 0 0 0 5345 CDBP05344 Peptidyl-tRNA hydrolase ICT1, mitochondrial Q14197 true false Enzyme ICT1 23629.855 10.074 Essential peptidyl-tRNA hydrolase component of the mitochondrial large ribosomal subunit. Acts as a codon-independent translation release factor that has lost all stop codon specificity and directs the termination of translation in mitochondrion, possibly in case of abortive elongation. May be involved in the hydrolysis of peptidyl-tRNAs that have been prematurely terminated and thus in the recycling of stalled mitochondrial ribosomes. 17 17q25.1 HGNC:5359 true hsa:3396 NP_001536.1:NM_001545.1 Down-regulated during the in vitro differentiation of HT29-D4 colon carcinoma cells. Component of the mitochondrial 39S ribosomal subunit 2020-06-12T23:07:38Z 2020-07-28T02:30:52Z 0 0 0 5346 CDBP05345 Eukaryotic initiation factor 4A-I P60842 false false Enzyme EIF4A1 39548.13 5.823 ATP-dependent RNA helicase which is a subunit of the eIF4F complex involved in cap recognition and is required for mRNA binding to ribosome. In the current model of translation initiation, eIF4A unwinds RNA secondary structures in the 5'-UTR of mRNAs which is necessary to allow efficient binding of the small ribosomal subunit, and subsequent scanning for the initiator codon. 2G9N;2ZU6;3EIQ 17 17p13 HGNC:3282 true hsa:1973 NP_001191439.1:NM_001204510.1;NP_001407.1:NM_001416.3 eIF4F is a multi-subunit complex, the composition of which varies with external and internal environmental conditions. It is composed of at least EIF4A, EIF4E and EIF4G1/EIF4G3. Interacts with PAIP1, EIF4E and UPF2. Found in a complex with XPO7, EIF4A1, ARHGAP1, VPS26A, VPS29, VPS35 and SFN. May interact with NOM1. Interacts with PDCD4; this interferes with the interaction between EIF4A and EIF4G. Interacts with RBM4. Interacts with human cytomegalovirus/HHV-5 protein UL69 2020-06-12T23:07:38Z 2020-07-28T02:34:35Z 0 0 0 5347 CDBP05346 Eukaryotic initiation factor 4A-II Q14240 false false Enzyme EIF4A2 46401.9 5.48 ATP-dependent RNA helicase which is a subunit of the eIF4F complex involved in cap recognition and is required for mRNA binding to ribosome. In the current model of translation initiation, eIF4A unwinds RNA secondary structures in the 5'-UTR of mRNAs which is necessary to allow efficient binding of the small ribosomal subunit, and subsequent scanning for the initiator codon. 3BOR 3 3q28 HGNC:3284 true hsa:1974 NP_001958.2:NM_001967.3 eIF4F is a multi-subunit complex, the composition of which varies with external and internal environmental conditions. It is composed of at least EIF4A, EIF4E and EIF4G1/EIFFG3 . Interacts with EIF4E. May interact with NOM1. Interacts with HHV-1 Vhs 2020-06-12T23:07:38Z 2020-07-28T02:34:35Z 0 0 0 5348 CDBP05347 Eukaryotic initiation factor 4A-III P38919 false false Enzyme EIF4A3 46870.62 6.72 ATP-dependent RNA helicase. Component of a splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of a few core proteins and several more peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Core components of the EJC, that remains bound to spliced mRNAs throughout all stages of mRNA metabolism, functions to mark the position of the exon-exon junction in the mature mRNA and thereby influences downstream processes of gene expression including mRNA splicing, nuclear mRNA export, subcellular mRNA localization, translation efficiency and nonsense-mediated mRNA decay (NMD). Constitutes at least part of the platform anchoring other EJC proteins to spliced mRNAs. Its RNA-dependent ATPase and RNA-helicase activities are induced by CASC3, but abolished in presence of the MAGOH/RBM8A heterodimer, thereby trapping the ATP-bound EJC core onto spliced mRNA in a stable conformation. The inhibition of ATPase activity by the MAGOH/RBM8A heterodimer increases the RNA-binding affinity of the EJC. Involved in translational enhancement of spliced mRNAs after formation of the 80S ribosome complex. Binds spliced mRNA in sequence-independent manner, 20-24 nucleotides upstream of mRNA exon-exon junctions. Shows higher affinity for single-stranded RNA in an ATP-bound core EJC complex than after the ATP is hydrolyzed. 2HXY;2HYI;2J0Q;2J0S;2J0U;2XB2;3EX7 17 17q25.3 HGNC:18683 true hsa:9775 NP_055555.1:NM_014740.3 Ubiquitously expressed. Part of the EJC core complex that contains CASC3, EIF4A3, MAGOH and RBM8A. Found in a mRNA splicing-dependent exon junction complex (EJC), at least composed of ACIN1, CASC3, EIF4A3, MAGOH, PNN, RBM8A, RNPS1, SAP18 and ALYREF/THOC4. Interacts with CASC3, MAGOH, NXF1, RBM8A and ALYREF/THOC4. Identified in the spliceosome C complex. May interact with NOM1. Interacts with POLDIP3 2020-06-12T23:07:38Z 2020-07-28T02:34:35Z 0 0 0 5349 CDBP05348 Interferon-induced helicase C domain-containing protein 1 Q9BYX4 true false Enzyme IFIH1 116688.14 5.521 Innate immune receptor which acts as a cytoplasmic sensor of viral nucleic acids and plays a major role in sensing viral infection and in the activation of a cascade of antiviral responses including the induction of type I interferons and proinflammatory cytokines. Its ligands include mRNA lacking 2'-O-methylation at their 5' cap and long-dsRNA (>1 kb in length). Upon ligand binding it associates with mitochondria antiviral signaling protein (MAVS/IPS1) which activates the IKK-related kinases: TBK1 and IKBKE which phosphorylate interferon regulatory factors: IRF3 and IRF7 which in turn activate transcription of antiviral immunological genes, including interferons (IFNs); IFN-alpha and IFN-beta. Responsible for detecting the Picornaviridae family members such as encephalomyocarditis virus (EMCV) and mengo encephalomyocarditis virus (ENMG). Can also detect other viruses such as dengue virus (DENV), west Nile virus (WNV), and reovirus. Also involved in antiviral signaling in response to viruses containing a dsDNA genome, such as vaccinia virus. Plays an important role in amplifying innate immune signaling through recognition of RNA metabolites that are produced during virus infection by ribonuclease L (RNase L). May play an important role in enhancing natural killer cell function and may be involved in growth inhibition and apoptosis in several tumor cell lines. 2RQB;3B6E;3GA3;4GL2 2 2q24 HGNC:18873 true hsa:64135 NP_071451.2:NM_022168.3 Widely expressed, at a low level. Expression is detected at slightly highest levels in placenta, pancreas and spleen and at barely levels in detectable brain, testis and lung. Zinc Monomer in the absence of ligands and homodimerizes in the presence of dsRNA ligands. Can assemble into helical or linear polymeric filaments on long dsRNA. Interacts with MAVS/IPS1. Interacts with V protein of Simian virus 5, Human parainfluenza virus 2, Mumps virus, Sendai virus and Hendra virus. Binding to paramyxoviruses V proteins prevents IFN-beta induction, and the further establishment of an antiviral state. Interacts with PCBP2. Interacts with NLRC5. Interacts with PIAS2-beta. Interacts with DDX60 2020-06-12T23:07:38Z 2020-07-28T02:30:52Z 1 1 0 5350 CDBP05349 DNA helicase INO80 Q9ULG1 true false Enzyme INO80 176751.655 9.501 DNA helicase and probable main scaffold component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair; according to PubMed:20687897 the contribution to DNA double-strand break repair appears to be largely indirect through transcriptional regulation. Recruited by YY1 to YY1-activated genes, where it acts as an essential coactivator. Binds DNA. In vitro, has double stranded DNA-dependent ATPase activity. Involved in UV-damage excision repair, DNA replication and chromosome segregation during normal cell division cycle. 15 15q15.1 HGNC:26956 true hsa:54617 NP_060023.1:NM_017553.1 According to PubMed:10574462, widely expressed. According to PubMed:16298340, specifically expressed in brain, liver and pancreas. Component of the chromatin-remodeling INO80 complex; three different complex modules assemble on different domains of INO80. Interacts with DDB1 2020-06-12T23:07:38Z 2020-07-28T02:30:52Z 0 0 1 5351 CDBP05350 Adenylate kinase isoenzyme 6 Q9Y3D8 true false Enzyme TAF9 19804.97 4.735 Broad activity as an NMP kinase. AMP and dAMP are the preferred substrates of all tested NMPs, but CMP and dCMP are also good substrates. IMP can be phosphorylated, but to a much lesser extent. Adenylate and cytidylate can serve as phosphate acceptors. 1RKB;3IIJ;3IIK;3IIL;3IIM 5 5q11.2-q13.1 HGNC:11542 true hsa:6880 NP_001015891.1:NM_001015891.1;NP_057367.1:NM_016283.4 Interacts with COIL (via C-terminus) 2020-06-12T23:07:38Z 2020-07-28T02:30:52Z 0 0 0 5352 CDBP05351 Adenylate kinase 8 Q96MA6 true false Enzyme AK8 54925.01 6.147 Adenylate kinase. Has highest activity toward AMP, and weaker activity toward dAMP, CMP and dCMP. 9 9q34.13 HGNC:26526 true hsa:158067 NP_689785.1:NM_152572.2 2020-06-12T23:07:38Z 2020-07-28T02:30:52Z 0 0 0 5353 CDBP05352 Histone acetyltransferase KAT6A Q92794 true false Enzyme KAT6A 225026.115 5.682 Histone acetyltransferase that acetylates lysine residues in histone H3 and histone H4 (in vitro). Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. May act as a transcriptional coactivator for RUNX1 and RUNX2. 1M36;2LN0;2OZU;2RC4;3V43 8 8p11 HGNC:13013 true hsa:7994 NP_001092882.1:NM_001099412.1;NP_001092883.1:NM_001099413.1;NP_006757.2:NM_006766.3 Component of the MOZ/MORF complex composed at least of ING5, KAT6A, KAT6B, MEAF6 and one of BRPF1, BRD1/BRPF2 and BRPF3. Interacts with RUNX1; phosphorylation of RUNX1 enhances the interaction. Interacts with RUNX2 2020-06-12T23:07:38Z 2020-07-28T02:30:52Z 0 1 1 5354 CDBP05353 Katanin p60 ATPase-containing subunit A-like 1 Q9BW62 true false Enzyme KATNAL1 55391.805 6.741 Regulates microtubule dynamics in Sertoli cells, a process that is essential for spermiogenesis and male fertility. Severs microtubules in an ATP-dependent manner, promoting rapid reorganization of cellular microtubule arrays (By similarity). 13 13q12.3 HGNC:28361 true hsa:84056 NP_001014402.1:NM_001014380.2;NP_115492.1:NM_032116.4 Expressed in testis, restricted to Sertoli cells (at protein level). 2020-06-12T23:07:38Z 2020-07-28T02:30:52Z 0 0 0 5355 CDBP05354 Katanin p60 ATPase-containing subunit A-like 2 Q8IYT4 true false Enzyme KATNAL2 52780.635 8.323 Severs microtubules in vitro in an ATP-dependent manner. This activity may promote rapid reorganization of cellular microtubule arrays (By similarity). 18 18q21.1 HGNC:25387 true hsa:83473 NP_112593.2:NM_031303.2 2020-06-12T23:07:38Z 2020-07-28T02:30:52Z 0 0 0 5356 CDBP05355 Lysine-specific demethylase 8 Q8N371 true false Enzyme KDM8 50851.565 5.702 Histone demethylase required for G2/M phase cell cycle progression. Specifically demethylates dimethylated 'Lys-36' (H3K36me2) of histone H3, an epigenetic repressive mark, thereby acting as a transcription activator. Regulates expression of CCNA1 (cyclin-A1), leading to regulate cancer cell proliferation. 3UYJ;4AAP;4GJY;4GJZ 16 16p12.1 HGNC:25840 true hsa:79831 NP_001138820.1:NM_001145348.1;NP_079049.2:NM_024773.2 Weakly expressed in most cells. Highly expressed in breast cancer cells. Fe(2+) ion 2020-06-12T23:07:38Z 2020-07-28T02:30:52Z 0 1 1 5357 CDBP05356 Probable lysosomal cobalamin transporter Q9NUN5 false false Enzyme LMBRD1 61387.965 7.763 Probable lysosomal cobalamin transporter. Required to export cobalamin from lysosomes allowing its conversion to cofactors. Isoform 3 may play a role in the assembly of hepatitis delta virus (HDV). 6 6q13 HGNC:23038 true hsa:55788 NP_060838.3:NM_018368.3 Isoform 3 is expressed in liver. Isoform 3 interacts with Hepatitis delta virus NES(HDAg-L) 2020-06-12T23:07:38Z 2020-07-28T02:34:35Z 0 0 0 5358 CDBP05357 Phosphatidate phosphatase LPIN1 Q14693 true false Enzyme LPIN1 99366.085 6.656 Plays important roles in controlling the metabolism of fatty acids at differents levels. Acts as a magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis in the reticulum endoplasmic membrane. Acts also as a nuclear transcriptional coactivator for PPARGC1A/PPARA to modulate lipid metabolism gene expression (By similarity). Is involved in adipocyte differentiation. May also be involved in mitochondrial fission by converting phosphatidic acid to diacylglycerol (By similarity). 2 2p25.1 HGNC:13345 true hsa:23175 NP_001248356.1:NM_001261427.1;NP_001248357.1:NM_001261428.1;NP_001248358.1:NM_001261429.1;NP_663731.1:NM_145693.2 Specifically expressed in skeletal muscle. Also abundant in adipose tissue. Lower levels in some portions of the digestive tract. Mg(2+) Interacts (via LXXIL motif) with PPARA . Interacts with PPARGC1A (By similarity). Interaction with PPARA and PPARGC1A leads to the formation of a complex that modulates gene transcription (By similarity). Interacts with MEF2C (By similarity) 2020-06-12T23:07:38Z 2020-07-28T02:30:53Z 0 0 1 5359 CDBP05358 Phosphatidate phosphatase LPIN2 Q92539 true false Enzyme LPIN2 99398.355 5.324 Plays important roles in controlling the metabolism of fatty acids at differents levels. Acts as a magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis in the reticulum endoplasmic membrane. Acts also as a nuclear transcriptional coactivator for PPARGC1A to modulate lipid metabolism (By similarity). 18 18p11.31 HGNC:14450 true hsa:9663 NP_055461.1:NM_014646.2 Expressed in liver, lung, kidney, placenta, spleen, thymus, lymph node, prostate, testes, small intestine, and colon. Mg(2+) 2020-06-12T23:07:38Z 2020-07-28T02:30:53Z 0 0 1 5360 CDBP05359 Phosphatidate phosphatase LPIN3 Q9BQK8 true false Enzyme LPIN3 93613.4 5.511 Regulates fatty acid metabolism. Magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis (By similarity). 20 20q12 HGNC:14451 true hsa:64900 NP_075047.1:NM_022896.1 Significant expression in intestine and other regions of the gastrointestinal tract. Mg(2+) 2020-06-12T23:07:38Z 2020-07-28T02:30:53Z 0 0 0 5361 CDBP05360 Putative helicase Mov10l1 Q9BXT6 true false Enzyme MOV10L1 129935.8 6.245 Putative RNA helicase. Isoform 1 may play a role in male germ cell development. 22 22q13.33 HGNC:7201 true hsa:54456 NP_001157576.1:NM_001164104.1;NP_001157577.1:NM_001164105.1;NP_001157578.1:NM_001164106.1;NP_061868.1:NM_018995.2 Isoform 1 is specifically expressed in testis. 2020-06-12T23:07:38Z 2020-07-28T02:30:53Z 0 0 0 5362 CDBP05361 Alpha-mannosidase 2x P49641 true false Enzyme MAN2A2 130537.495 6.838 Catalyzes the first committed step in the biosynthesis of complex N-glycans. It controls conversion of high mannose to complex N-glycans; the final hydrolytic step in the N-glycan maturation pathway. 15 15q26.1 HGNC:6825 true hsa:4122 NP_006113.2:NM_006122.2 zinc ion Homodimer; disulfide-linked 2020-06-12T23:07:38Z 2020-07-28T02:30:53Z 0 1 0 5363 CDBP05362 Lysosomal alpha-mannosidase O00754 true false Enzyme MAN2B1 113743.26 7.282 Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves all known types of alpha-mannosidic linkages. 19 19cen-q13.1 HGNC:6826 true hsa:4125 NP_000519.2:NM_000528.3;NP_001166969.1:NM_001173498.1 zinc ion 2020-06-12T23:07:38Z 2020-07-28T02:30:53Z 0 1 0 5364 CDBP05363 Epididymis-specific alpha-mannosidase Q9Y2E5 true false Enzyme MAN2B2 113978.29 7.235 4 4p16.1 HGNC:29623 true hsa:23324 NP_056089.1:NM_015274.1 zinc ion 2020-06-12T23:07:38Z 2020-07-28T02:30:53Z 0 1 0 5365 CDBP05364 Magnesium transporter protein 1 Q9H0U3 false true Transporter MAGT1 41531.49 9.942 May be involved in N-glycosylation through its association with N-oligosaccharyl transferase. May be involved in Mg(2+) transport in epithelial cells. X Xq21.1 HGNC:28880 true hsa:84061 NP_115497.4:NM_032121.5 Ubiquitous. Expressed at very low levels in brain, lung and kidney. Weakly associates with the oligosaccharyl transferase (OST) complex which contains at least RPN1/ribophorin I, RPN2/ribophorin II, OST48, DAD1, and either STT3A or STT3B 2020-06-12T23:07:38Z 2020-07-28T02:32:15Z 0 0 0 5366 CDBP05365 Lysophospholipid acyltransferase 1 Q6ZNC8 true false Enzyme MBOAT1 56556.85 9.234 Acyltransferase which mediates the conversion of lysophosphatidylserine (1-acyl-2-hydroxy-sn-glycero-3-phospho-L-serine or LPS) into phosphatidylserine (1,2-diacyl-sn-glycero-3-phospho-L-serine or PS) (LPSAT activity). Prefers oleoyl-CoA as the acyl donor. Lysophospholipid acyltransferases (LPLATs) catalyze the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle. 6 6p22.3 HGNC:21579 true hsa:154141 NP_001073949.1:NM_001080480.2 Expressed in neutrophils. 2020-06-12T23:07:38Z 2020-07-28T02:30:53Z 0 0 0 5367 CDBP05366 Lysophospholipid acyltransferase 2 Q6ZWT7 true false Enzyme MBOAT2 59526.225 8.036 Acyltransferase which mediates the conversion of lysophosphatidylethanolamine (1-acyl-sn-glycero-3-phosphoethanolamine or LPE) into phosphatidylethanolamine (1,2-diacyl-sn-glycero-3-phosphoethanolamine or PE) (LPEAT activity). Catalyzes also the acylation of lysophosphatidic acid (LPA) into phosphatidic acid (PA) (LPAAT activity). Has also a very weak lysophosphatidylcholine acyltransferase (LPCAT activity). Prefers oleoyl-CoA as the acyl donor. Lysophospholipid acyltransferases (LPLATs) catalyze the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle. 2 2p25.1 HGNC:25193 true hsa:129642 NP_620154.2:NM_138799.2 Expressed in neutrophils. 2020-06-12T23:07:38Z 2020-07-28T02:30:53Z 0 0 0 5368 CDBP05367 Lysophospholipid acyltransferase 7 Q96N66 true false Enzyme MBOAT7 44732.46 8.863 Acyltransferase which mediates the conversion of lysophosphatidylinositol (1-acylglycerophosphatidylinositol or LPI) into phosphatidylinositol (1,2-diacyl-sn-glycero-3-phosphoinositol or PI) (LPIAT activity). Prefers arachidonoyl-CoA as the acyl donor. Lysophospholipid acyltransferases (LPLATs) catalyze the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle. 19 19q13.4 HGNC:15505 true hsa:79143 NP_001139528.1:NM_001146056.1;NP_001139554.1:NM_001146082.1;NP_001139555.1:NM_001146083.1;NP_077274.3:NM_024298.3 Overexpressed in metastatic breast and bladder carcinomas relative to normal breast epithelium and urothelium. 2020-06-12T23:07:38Z 2020-07-28T02:30:53Z 0 0 0 5369 CDBP05368 DNA replication licensing factor MCM2 P49736 false false Metal Binding MCM2 101895.155 5.513 Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity. Required for the entry in S phase and for cell division. 3 3q21 HGNC:6944 true hsa:4171 NP_004517.2:NM_004526.3 Component of the MCM2-7 complex. The complex forms a toroidal hexameric ring with the proposed subunit order MCM2-MCM6-MCM4-MCM7-MCM3-MCM5 (By simililarity). Interacts with DBF4 . Interacts with KAT7. May interact with MCM10 2020-06-12T23:07:38Z 2020-07-28T02:32:06Z 0 1 0 5370 CDBP05369 DNA replication licensing factor MCM3 P25205 false false Enzyme MCM3 91929.485 6.332 Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity. Required for DNA replication and cell proliferation. 6 6p12 HGNC:6945 true hsa:4172 NP_001257401.1:NM_001270472.1;NP_002379.3:NM_002388.4 Component of the MCM2-7 complex. The complex forms a toroidal hexameric ring with the proposed subunit order MCM2-MCM6-MCM4-MCM7-MCM3-MCM5 (By simililarity). Associated with the replication-specific DNA polymerase alpha. Interacts with MCMBP 2020-06-12T23:07:38Z 2020-07-28T02:34:35Z 0 0 0 5371 CDBP05370 DNA replication licensing factor MCM4 P33991 false false Enzyme MCM4 96556.97 6.735 Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity. 8 8q11.2 HGNC:6947 true hsa:4173 NP_005905.2:NM_005914.3;NP_877423.1:NM_182746.2 Component of the MCM2-7 complex. The complex forms a toroidal hexameric ring with the proposed subunit order MCM2-MCM6-MCM4-MCM7-MCM3-MCM5 (By simililarity). Interacts with MCMBP 2020-06-12T23:07:38Z 2020-07-28T02:34:35Z 0 0 0 5372 CDBP05371 DNA replication licensing factor MCM5 P33992 false false Enzyme MCM5 82284.685 8.371 Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity (By similarity). Interacts with MCMBP. 22 22q13.1 HGNC:6948 true hsa:4174 NP_006730.2:NM_006739.3 Component of the MCM2-7 complex. The complex forms a toroidal hexameric ring with the proposed subunit order MCM2-MCM6-MCM4-MCM7-MCM3-MCM5 (By simililarity) 2020-06-12T23:07:38Z 2020-07-28T02:34:35Z 0 0 0 5373 CDBP05372 DNA helicase MCM8 Q9UJA3 true false Enzyme MCM8 93695.955 7.749 Component of the MCM8-MCM9 complex, a complex involved in homologous recombination repair following DNA interstrand cross-links and plays a key role during gametogenesis. The MCM8-MCM9 complex probably acts as a hexameric helicase downstream of the Fanconi anemia proteins BRCA2 and RAD51 and is required to process aberrant forks into homologous recombination substrates and to orchestrate homologous recombination with resection, fork stabilization and fork restart. May also play a non-essential for DNA replication: may be involved in the activation of the prereplicative complex (pre-RC) during G(1) phase by recruiting CDC6 to the origin recognition complex (ORC). Binds chromatin throughout the cell cycle. 20 20p12.3 HGNC:16147 true hsa:84515 NP_115874.3:NM_032485.4;NP_877954.1:NM_182802.1 Highest levels in placenta, lung and pancreas. Low levels in skeletal muscle and kidney. Expressed in various tumors with highest levels in colon and lung cancers. Component of the MCM8-MCM9 complex, which forms a hexamer composed of MCM8 and MCM9. Interacts with CDC6 and ORC2 2020-06-12T23:07:38Z 2020-07-28T02:30:53Z 0 0 0 5374 CDBP05373 DNA helicase MCM9 Q9NXL9 true false Enzyme MCM9 127311.57 7.732 Component of the MCM8-MCM9 complex, a complex involved in homologous recombination repair following DNA interstrand cross-links and plays a key role during gametogenesis. The MCM8-MCM9 complex probably acts as a hexameric helicase downstream of the Fanconi anemia proteins BRCA2 and RAD51 and is required to process aberrant forks into homologous recombination substrates and to orchestrate homologous recombination with resection, fork stabilization and fork restart. 6 6q22.31 HGNC:21484 true hsa:254394 NP_060166.2:NM_017696.2;NP_694987.1:NM_153255.4 Component of the MCM8-MCM9 complex, which forms a hexamer composed of MCM8 and MCM9 2020-06-12T23:07:38Z 2020-07-28T02:30:53Z 0 0 0 5375 CDBP05374 Dual specificity protein phosphatase 13 isoform MDSP Q6B8I1 true false Enzyme DUSP13 20657.415 7.505 10 10q22.2 HGNC:19681 true hsa:51207 NP_001007272.1:NM_001007271.1;NP_001007273.1:NM_001007272.1;NP_001007274.1:NM_001007273.1 Skeletal muscle specific. 2020-06-12T23:07:38Z 2020-07-28T02:30:53Z 0 0 0 5376 CDBP05375 Guanosine-3',5'-bis(diphosphate) 3'-pyrophosphohydrolase MESH1 Q8N4P3 true false Enzyme HDDC3 15732.745 6.535 ppGpp hydrolyzing enzyme involved in starvation response. 3NR1 15 15q26.1 HGNC:30522 true hsa:374659 NP_940929.1:NM_198527.2 Manganese 2020-06-12T23:07:38Z 2020-07-28T02:30:53Z 0 1 0 5377 CDBP05376 Methyltransferase-like protein 2B Q6P1Q9 true false Enzyme METTL2B Probable methyltransferase (By similarity). HGNC:18272 true hsa:55798 NP_060866.2:NM_018396.2 2020-06-12T23:07:38Z 2020-07-28T02:30:53Z 0 0 0 5378 CDBP05377 Methyltransferase-like protein 6 Q8TCB7 true false Enzyme METTL6 Probable methyltransferase (By similarity). HGNC:28343 true hsa:131965 NP_689609.2:NM_152396.2 2020-06-12T23:07:38Z 2020-07-28T02:30:53Z 0 0 0 5379 CDBP05378 Alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase P26572 true false Enzyme MGAT1 50877.88 9.161 Initiates complex N-linked carbohydrate formation. Essential for the conversion of high-mannose to hybrid and complex N-glycans. 5 5q35 HGNC:7044 true hsa:4245 NP_001108089.1:NM_001114617.1;NP_001108090.1:NM_001114618.1;NP_001108091.1:NM_001114619.1;NP_001108092.1:NM_001114620.1;NP_002397.2:NM_002406.3 Appears to be present in all tissues. Manganese. The cofactor is mostly bound to the substrate 2020-06-12T23:07:38Z 2020-07-28T02:30:53Z 0 1 0 5380 CDBP05379 Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C Q9UBM8 true false Enzyme MGAT4C 56060.915 8.157 Glycosyltransferase that participates in the transfer of N-acetylglucosamine (GlcNAc) to the core mannose residues of N-linked glycans. Catalyzes the formation of the GlcNAcbeta1-4 branch on the GlcNAcbeta1-2Manalpha1-3 arm of the core structure of N-linked glycans. Essential for the production of tri- and tetra-antennary N-linked sugar chains (By similarity). Does not catalyze the transfer of GlcNAc to the Manalpha1-6 arm to form GlcNAcBeta1-4Manalpha1-6 linkage ('GnT-VI' activity). 12 12q21 HGNC:30871 true hsa:25834 NP_037376.2:NM_013244.3 Expressed in heart, adrenal gland, testis, liver, brain and fetal brain. Not expressed in pancreas. Divalent metal cations 2020-06-12T23:07:38Z 2020-07-28T02:30:53Z 0 1 0 5381 CDBP05380 Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B Q3V5L5 true false Enzyme MGAT5B 89534.545 8.359 Glycosyltransferase that acts on alpha-linked mannose of N-glycans and O-mannosyl glycans. Catalyzes the transfer of N-acetylglucosamine (GlcNAc) to the beta 1-6 linkage of the mannose residue of GlcNAcbeta1,2-Manalpha on both the alpha1,3- and alpha1,6-linked mannose arms in the core structure of N-glycan. Also acts on the GlcNAcbeta1,2-Manalpha1-Ser/Thr moiety, forming a 2,6-branched structure in brain O-mannosyl glycan. Plays an active role in modulating integrin and laminin-dependent adhesion and migration of neuronal cells via its activity in the O-mannosyl glycan pathway. 17 17q25.2 HGNC:24140 true hsa:146664 NP_001186101.1:NM_001199172.1;NP_653278.2:NM_144677.2;NP_945193.1:NM_198955.1 Predominantly expressed in brain. Expressed in all area of the adult and fetal brain Also expressed at much lower level in testis, spleen and thymus. Divalent metal cations. According to PubMed:12941944, divalent metal cations do not effect enzyme activity 2020-06-12T23:07:38Z 2020-07-28T02:30:54Z 0 1 0 5382 CDBP05381 Bifunctional lysine-specific demethylase and histidyl-hydroxylase MINA Q8IUF8 true false Enzyme MINA 52799.83 6.695 Oxygenase that can act as both a histone lysine demethylase and a ribosomal histidine hydroxylase. Is involved in the demethylation of trimethylated 'Lys-9' on histone H3 (H3K9me3), leading to an increase in ribosomal RNA expression. Also catalyzes the hydroxylation of 60S ribosomal protein L27a on 'His-39'. May play an important role in cell growth and survival. May be involved in ribosome biogenesis, most likely during the assembly process of pre-ribosomal particles. 2XDV 3 3q11.2 HGNC:19441 true hsa:84864 NP_001035998.1:NM_001042533.2;NP_001248758.1:NM_001261829.1;NP_116167.3:NM_032778.5;NP_694822.2:NM_153182.3 Expressed in liver, skeletal muscle, heart, pancreas, and placenta. Not detected in brain, lung or kidney. Expressed in several lung cancer tissues, but is barely detected in the adjacent non-cancerous tissues. Also highly expressed in several esophageal squamous cell carcinoma (ESCC), and colon cancer tissues, and in various cancer cell lines. Fe(2+) ion 2020-06-12T23:07:38Z 2020-07-28T02:30:54Z 0 0 0 5383 CDBP05382 tRNA dimethylallyltransferase, mitochondrial Q9H3H1 true false Enzyme TRIT1 52724.84 8.201 Catalyzes the transfer of a dimethylallyl group onto the adenine at position 37 of both cytosolic and mitochondrial tRNAs, leading to the formation of N6-(dimethylallyl)adenosine (i(6)A). 1 1p34.2 HGNC:20286 true hsa:54802 NP_060116.2:NM_017646.4 2020-06-12T23:07:38Z 2020-07-28T02:30:54Z 0 1 0 5384 CDBP05383 Mannosyl-oligosaccharide glucosidase Q13724 true false Enzyme MOGS Cleaves the distal alpha 1,2-linked glucose residue from the Glc(3)Man(9)GlcNAc(2) oligosaccharide precursor in a highly specific manner. HGNC:24862 true hsa:7841 NP_001139630.1:NM_001146158.1;NP_006293.2:NM_006302.2 2020-06-12T23:07:38Z 2020-07-28T02:30:54Z 0 0 0 5385 CDBP05384 Putative helicase MOV-10 Q9HCE1 true false Enzyme MOV10 113670.24 8.815 Probable RNA helicase. Required for RNA-mediated gene silencing by the RNA-induced silencing complex (RISC). Required for both miRNA-mediated translational repression and miRNA-mediated cleavage of complementary mRNAs by RISC. Also required for RNA-directed transcription and replication of the human hepatitis delta virus (HDV). Interacts with small capped HDV RNAs derived from genomic hairpin structures that mark the initiation sites of RNA-dependent HDV RNA transcription. 1 1p13.2 HGNC:7200 true hsa:4343 NP_001123551.1:NM_001130079.1;NP_066014.1:NM_020963.3 Interacts with DICER1, EIF2C1/AGO1, EIF2C2/AGO2, EIF6 and TARBP2. Associates with the 60S ribosome. Interacts with the human hepatitis delta virus (HDV) antigen HDAg 2020-06-12T23:07:38Z 2020-07-28T02:30:54Z 0 0 1 5386 CDBP05385 Mitochondrial pyruvate carrier 1-like protein P0DKB6 false false Enzyme MPC1L 15137.395 9.933 X Xp11.4 HGNC:44205 true hsa:347411 NP_001182451.1:NM_001195522.1 2020-06-12T23:07:38Z 2020-07-28T02:34:36Z 0 0 0 5387 CDBP05386 Mitochondrial pyruvate carrier 1 Q9Y5U8 false false Enzyme MPC1 12347.37 9.615 Mediates the uptake of pyruvate into mitochondria. 6 6q27 HGNC:21606 true hsa:51660 NP_057182.1:NM_016098.3 The functional 150 kDa pyruvate import complex is a heteromer of MPC1 and MPC2 2020-06-12T23:07:38Z 2020-07-28T02:34:36Z 0 0 0 5388 CDBP05387 Mitochondrial pyruvate carrier 2 O95563 false false Enzyme MPC2 14278.74 10.435 Mediates the uptake of pyruvate into mitochondria. 1 1q24 HGNC:24515 true hsa:25874 NP_001137146.1:NM_001143674.2;NP_056230.1:NM_015415.3 The functional 150 kDa pyruvate import complex is a heteromer of MPC1 and MPC2 2020-06-12T23:07:38Z 2020-07-28T02:34:36Z 0 0 0 5389 CDBP05388 Myotubularin-related protein 1 Q13613 false false Enzyme MTMR1 Lipid phosphatase that acts on phosphatidylinositol 3-phosphate and phosphatidylinositol (3,5)-bisphosphate. HGNC:7449 true hsa:8776 NP_003819.1:NM_003828.2 Interacts with MTMR12 2020-06-12T23:07:38Z 2020-07-28T02:34:36Z 0 0 0 5390 CDBP05389 Myotubularin-related protein 2 Q13614 false false Receptor MTMR2 Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate. 1LW3;1M7R;1ZSQ;1ZVR HGNC:7450 true hsa:8898 NP_001230500.1:NM_001243571.1;NP_057240.3:NM_016156.5;NP_958435.1:NM_201278.2;NP_958438.1:NM_201281.2 Homooligomer and heterooligomer. Interacts with SBF1 and SBF2 2020-06-12T23:07:38Z 2020-07-28T02:32:22Z 1 0 0 5391 CDBP05390 Myotubularin-related protein 6 Q9Y217 false false Enzyme MTMR6 Phosphatase that acts on lipids with a phosphoinositol headgroup. Acts as a negative regulator of KCNN4/KCa3.1 channel activity in CD4+ T-cells possibly by decreasing intracellular levels of phosphatidylinositol 3 phosphatase. Negatively regulates proliferation of reactivated CD4+ T-cells. 2YF0 HGNC:7453 true hsa:9107 NP_004676.3:NM_004685.3 Expressed in CD4+ T-cells. Interacts with KCNN4, MTMR7, MTMR8 and MTMR9 2020-06-12T23:07:38Z 2020-07-28T02:34:36Z 0 0 0 5392 CDBP05391 Myotubularin-related protein 7 Q9Y216 false false Enzyme MTMR7 Phosphatase that acts on lipids with a phosphoinositol headgroup (Probable). HGNC:7454 true hsa:9108 NP_004677.3:NM_004686.4 Expressed specifically in brain. Interacts with MTMR6, MTMR8 and MTMR9 2020-06-12T23:07:38Z 2020-07-28T02:34:36Z 0 0 0 5393 CDBP05392 Methylthioribose-1-phosphate isomerase Q9BV20 true false Enzyme MRI1 39149.38 6.297 Catalyzes the interconversion of methylthioribose-1-phosphate (MTR-1-P) into methylthioribulose-1-phosphate (MTRu-1-P). Independently from catalytic activity, promotes cell invasion in response to constitutive RhoA activation by promoting FAK tyrosine phosphorylation and stress fiber turnover. 19 19p13.2 HGNC:28469 true hsa:84245 NP_001026897.1:NM_001031727.2;NP_115661.1:NM_032285.2 2020-06-12T23:07:38Z 2020-07-28T02:30:54Z 0 0 0 5394 CDBP05393 Methylthioribulose-1-phosphate dehydratase Q96GX9 true false Enzyme APIP 27125.065 7.123 Catalyzes the dehydration of methylthioribulose-1-phosphate (MTRu-1-P) into 2,3-diketo-5-methylthiopentyl-1-phosphate (DK-MTP-1-P). Functions in the methionine salvage pathway, which plays a key role in cancer, apoptosis, microbial proliferation and inflammation. May inhibit the CASP1-related inflammatory response (pyroptosis), the CASP9-dependent apoptotic pathway and the cytochrome c-dependent and APAF1-mediated cell death. 11 11p13 HGNC:17581 true hsa:51074 NP_057041.2:NM_015957.2 Isoform 1 is ubiquitously expressed. Isoform 2 is expressed at lower levels and detected in heart, brain, pancreas, liver, placenta, skeletal muscle and kidney. zinc ion Interacts with APAF1. May interact with CASP1 2020-06-12T23:07:38Z 2020-07-28T02:30:54Z 0 1 0 5395 CDBP05394 Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1 Q8N1G2 true false Enzyme FTSJD2 95319.96 7.055 S-adenosyl-L-methionine-dependent methyltransferase that mediates mRNA cap1 2'-O-ribose methylation to the 5'-cap structure of mRNAs. Methylates the ribose of the first nucleotide of a m(7)GpppG-capped mRNA to produce m(7)GpppNmp (cap1). Cap1 modification is linked to higher levels of translation. May be involved in the interferon response pathway. 6 6p21.2 HGNC:21077 true hsa:23070 NP_055865.1:NM_015050.2 Interacts with POLR2A (via C-terminus) 2020-06-12T23:07:38Z 2020-07-28T02:30:54Z 0 0 0 5396 CDBP05395 N-alpha-acetyltransferase 10 P41227 true false Enzyme NAA10 26458.27 5.643 In complex with NAA15, displays alpha (N-terminal) acetyltransferase activity. Without NAA15, displays epsilon (internal) acetyltransferase activity towards HIF1A, thereby promoting its degradation. Represses MYLK kinase activity by acetylation, and thus represses tumor cell migration. X Xq28 HGNC:18704 true hsa:8260 NP_003482.1:NM_003491.3 Ubiquitous. Interacts with HIF1A (via its ODD domain); the interaction increases HIF1A protein stability during normoxia, and down-regulates it when induced by hypoxia. Interacts with NAA15, NAA50 and with the ribosome. Binds to MYLK. Associates with HYPK when in complex with NAA15 2020-06-12T23:07:38Z 2020-07-28T02:30:54Z 0 0 0 5397 CDBP05396 N-alpha-acetyltransferase 11 Q9BSU3 true false Enzyme NAA11 25978.61 5.176 In complex with NAA15, displays alpha (N-terminal) acetyltransferase activity. 4 4q21.21 HGNC:28125 true hsa:84779 NP_116082.1:NM_032693.2 Present in several cell lines, with highest levels in MCF-7 cells (at protein level). Interacts with NAA15 and HIF1A 2020-06-12T23:07:38Z 2020-07-28T02:30:54Z 0 0 0 5398 CDBP05397 N-alpha-acetyltransferase 20 P61599 true false Enzyme NAA20 20367.985 5.031 Catalytic subunit of the NatB complex which catalyzes acetylation of the N-terminal methionine residues of peptides beginning with Met-Asp, Met-Glu, Met-Asn and Met-Gln. Proteins with cell cycle functions are overrepresented in the pool of NatB substrates. Required for maintaining the structure and function of actomyosin fibers and for proper cellular migration. 20 20p11.23 HGNC:15908 true hsa:51126 NP_057184.1:NM_016100.4;NP_852669.1:NM_181528.3 Component of the N-terminal acetyltransferase B (NatB) complex which is composed of NAA20 and NAA25 2020-06-12T23:07:38Z 2020-07-28T02:30:54Z 0 0 0 5399 CDBP05398 N-alpha-acetyltransferase 30 Q147X3 true false Enzyme NAA30 39319.075 5.511 Catalytic subunit of the N-terminal acetyltransferase C (NatC) complex. Catalyzes acetylation of the N-terminal methionine residues of peptides beginning with Met-Leu-Ala and Met-Leu-Gly. Necessary for the lysosomal localization and function of ARL8B. 14 14q22.3 HGNC:19844 true hsa:122830 NP_001011713.2:NM_001011713.2 Component of the N-terminal acetyltransferase C (NatC) complex, which is composed of NAA35, LSMD1 and NAA30 2020-06-12T23:07:38Z 2020-07-28T02:30:54Z 0 0 0 5400 CDBP05399 N-alpha-acetyltransferase 60 Q9H7X0 true false Enzyme NAA60 27451.075 7.604 Histone acetyltransferase localized in the Golgi apparatus that mediates acetylation of free histone H4, thereby facilitating nucleosome assembly. Has a preference for free histone H4 'Lys-20'(H4K20ac), 'Lys-79'(H4K79ac) and 'Lys-91' (H4K91ac). Also displays alpha (N-terminal) acetyltransferase activity towards a range of N-terminal sequences including those starting with Met-Lys, Met-Val, Met-Ala and Met-Met. Required for normal chromosomal segregation during anaphase. 16 16p13.3 HGNC:25875 true hsa:79903 NP_001077069.1:NM_001083600.1;NP_001077070.1:NM_001083601.1;NP_079121.1:NM_024845.2 2020-06-12T23:07:38Z 2020-07-28T02:30:54Z 0 0 0 5401 CDBP05400 NAD kinase domain-containing protein 1, mitochondrial Q4G0N4 true false Enzyme NADKD1 49432.465 8.171 Mitochondrial NAD(+) kinase that phosphorylates NAD(+) to yield NADP(+). Can use both ATP or inorganic polyphosphate as the phosphoryl donor. Also has weak NADH kinase activity in vitro; however NADH kinase activity is much weaker than the NAD(+) kinase activity and may not be relevant in vivo. 5 5p13.2 HGNC:26404 true hsa:133686 NP_001078880.1:NM_001085411.1;NP_694558.1:NM_153013.3 Widely expressed. Homodimer (Probable) 2020-06-12T23:07:38Z 2020-07-28T02:30:54Z 0 0 0 5402 CDBP05401 N-acetylaspartate synthetase Q8N9F0 true false Enzyme NAT8L 32836.875 8.821 Plays a role in the regulation of lipogenesis by producing N-acetylaspartate acid (NAA), a brain-specific metabolite. NAA occurs in high concentration in brain and its hydrolysis plays a significant part in the maintenance of intact white matter. Promotes dopamine uptake by regulating TNF-alpha expression. Attenuates methamphetamine-induced inhibition of dopamine uptake. 4 4p16.3 HGNC:26742 true hsa:339983 NP_848652.2:NM_178557.3;XP_003403822.2:XM_003403774.2 Expressed in brain. 2020-06-12T23:07:38Z 2020-07-28T02:30:54Z 0 0 0 5403 CDBP05402 Neuron navigator 2 Q8IVL1 false false Receptor NAV2 254975.72 8.945 Possesses 3' to 5' helicase activity and exonuclease activity. Involved in neuronal development, specifically in the development of different sensory organs. 2YRN 11 11p15.1 HGNC:15997 true hsa:89797 NP_001104488.1:NM_001111018.1;NP_001104489.1:NM_001111019.2;NP_001231892.1:NM_001244963.1;NP_660093.2:NM_145117.4;NP_892009.3:NM_182964.5 Highly expressed in the brain, kidney and liver. Also expressed in the thyroid, mammary gland, spinal cord, heart, placenta and lung. Abundantly expressed in colon cancers. 2020-06-12T23:07:38Z 2020-07-28T02:32:22Z 1 0 0 5404 CDBP05403 Bifunctional protein NCOAT O60502 false false Enzyme MGEA5 96930.75 5.025 Cleaves GlcNAc but not GalNAc from glycopeptides. Can use p-nitrophenyl-beta-GlcNAc as substrate but not p-nitrophenyl-beta-GalNAc or p-nitrophenyl-alpha-GlcNAc. Possesses hyaluronidase activity. Acetylates 'Lys-8' of histone H4 and 'Lys-14' of histone H3 (By similarity). 10 10q24.1-q24.3 HGNC:7056 true hsa:10724 HS03036-MONOMER NP_001135906.1:NM_001142434.1;NP_036347.1:NM_012215.3 Ubiquitous. Shows highest expression in the brain, placenta and pancreas. Monomer. Binds both acetylated and unacetylated histone H4 tail but acetylation on 'Lys-8' of histone H4 abolishes binding 2020-06-12T23:07:38Z 2020-07-28T02:34:36Z 0 0 0 5405 CDBP05404 Nucleoside diphosphate kinase homolog 5 P56597 true false Enzyme NME5 Does not seem to have NDK kinase activity. Confers protection from cell death by Bax and alters the cellular levels of several antioxidant enzymes including Gpx5. May play a role in spermiogenesis by increasing the ability of late-stage spermatids to eliminate reactive oxygen species (By similarity). HGNC:7853 true hsa:8382 NP_003542.1:NM_003551.2 Specifically expressed in testis germinal cells. 2020-06-12T23:07:38Z 2020-07-28T02:30:55Z 0 0 0 5406 CDBP05405 Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 P52848 true false Enzyme NDST1 100867.015 7.978 Essential bifunctional enzyme that catalyzes both the N-deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate. Modifies the GlcNAc-GlcA disaccharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis. Plays a role in determining the extent and pattern of sulfation of heparan sulfate. Compared to other NDST enzymes, its presence is absolutely required. Participates in biosynthesis of heparan sulfate that can ultimately serve as L-selectin ligands, thereby playing a role in inflammatory response. 1NST 5 5q33.1 HGNC:7680 true hsa:3340 HS01001-MONOMER NP_001534.1:NM_001543.4 Widely expressed. Expression is most abundant in heart, liver and pancreas. Monomer 2020-06-12T23:07:38Z 2020-07-28T02:30:55Z 1 0 0 5407 CDBP05406 Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2 P52849 true false Enzyme NDST2 100873.72 8.624 Essential bifunctional enzyme that catalyzes both the N-deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate. Modifies the GlcNAc-GlcA disaccharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis. Plays a role in determining the extent and pattern of sulfation of heparan sulfate. 10 10q22 HGNC:7681 true hsa:8509 HS09410-MONOMER NP_003626.1:NM_003635.3 Monomer 2020-06-12T23:07:38Z 2020-07-28T02:30:55Z 0 0 0 5408 CDBP05407 Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 3 O95803 true false Enzyme NDST3 100901.23 8.067 Essential bifunctional enzyme that catalyzes both the N-deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate. Modifies the GlcNAc-GlcA disaccharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis. Has high deacetylase activity but low sulfotransferase activity. 4 4q26 HGNC:7682 true hsa:9348 HS09011-MONOMER NP_004775.1:NM_004784.2 Expressed in brain, kidney, liver, fetal and adult lung, adult pancreas, placenta, fetal spleen and fetal thymus. Not detected in adult/ fetal heart and skeletal muscle. Monomer 2020-06-12T23:07:38Z 2020-07-28T02:30:55Z 0 0 0 5409 CDBP05408 Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 4 Q9H3R1 true false Enzyme NDST4 100714.905 7.55 Essential bifunctional enzyme that catalyzes both the N-deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate. Modifies the GlcNAc-GlcA disaccharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis. Has low deacetylase activity but high sulfotransferase activity (By similarity). 4 4q26 HGNC:20779 true hsa:64579 HS06527-MONOMER NP_072091.1:NM_022569.1 Monomer 2020-06-12T23:07:38Z 2020-07-28T02:30:55Z 0 0 0 5410 CDBP05409 Ribosomal RNA small subunit methyltransferase NEP1 Q92979 true false Enzyme EMG1 26719.905 9.178 Involved in 40S ribosomal subunit biogenesis and 18S rRNA processing. Specifically catalyzes the N1-methylation of pseudouridine at position 1248 (Psi1248) in 18S rRNA. Thus, appears to be the methyltransferase involved in the biosynthesis of the hypermodified N1-methyl-N3-(3-amino-3-carboxypropyl) pseudouridine (m1acp3-Psi) in position 1248 in 18S rRNA. Is not able to methylate uridine at this position. 12 12p13.3 HGNC:16912 true hsa:10436 NP_006322.4:NM_006331.7 Homodimer 2020-06-12T23:07:38Z 2020-07-28T02:30:55Z 0 0 0 5411 CDBP05410 Magnesium transporter NIPA1 Q7RTP0 false true Transporter NIPA1 27309.285 7.168 Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Fe(2+), Sr(2+), Ba(2+), Mn(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity). 15 15q11.2 HGNC:17043 true hsa:123606 NP_001135747.1:NM_001142275.1;NP_653200.2:NM_144599.4 Widely expressed with highest levels in neuronal tissues. Homodimer 2020-06-12T23:07:38Z 2020-07-28T02:32:15Z 0 0 0 5412 CDBP05411 Magnesium transporter NIPA2 Q8N8Q9 false true Transporter NIPA2 39184.635 8.228 Acts as a selective Mg(2+) transporter (By similarity). 15 15q11.2 HGNC:17044 true hsa:81614 NP_001008860.1:NM_001008860.2;NP_001008892.1:NM_001008892.2;NP_001008894.1:NM_001008894.2;NP_001171817.1:NM_001184888.1;NP_001171818.1:NM_001184889.1;NP_112184.4:NM_030922.6 Widely expressed. 2020-06-12T23:07:38Z 2020-07-28T02:32:15Z 0 0 0 5413 CDBP05412 Magnesium transporter NIPA3 Q6NVV3 false true Transporter NIPAL1 44637.595 5.999 Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Fe(2+), Sr(2+), Ba(2+), Mn(2+), Cu(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity). 4 4p12 HGNC:27194 true hsa:152519 NP_997213.1:NM_207330.1 2020-06-12T23:07:38Z 2020-07-28T02:32:15Z 0 0 0 5414 CDBP05413 Magnesium transporter NIPA4 Q0D2K0 false true Transporter NIPAL4 50057.055 7.425 Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Ba(2+), Mn(2+), Sr(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity). May be a receptor for ligands (trioxilins A3 and B3) from the hepoxilin pathway. 5 5q33.3 HGNC:28018 true hsa:348938 NP_001092757.1:NM_001099287.1;NP_001165763.1:NM_001172292.1 Highly expressed in brain, lung, stomach, keratinocytes and leukocytes, and in all other tissues tested except liver, thyroid and fetal brain. 2020-06-12T23:07:38Z 2020-07-28T02:32:15Z 0 0 0 5415 CDBP05414 Omega-amidase NIT2 Q9NQR4 true false Enzyme NIT2 30607.645 7.212 Has a omega-amidase activity. The role of omega-amidase is to remove potentially toxic intermediates by converting alpha-ketoglutaramate and alpha-ketosuccinamate to biologically useful alpha-ketoglutarate and oxaloacetate, respectively. Overexpression decreases the colony-forming capacity of cultured cells by arresting cells in the G2 phase of the cell cycle. 3 3q12.2 HGNC:29878 true hsa:56954 NP_064587.1:NM_020202.4 Detected in fetal brain (at protein level). Ubiquitous. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, prostate, spleen, thymus, prostate, testis, ovary, small intestine and colon. Homodimer 2020-06-12T23:07:38Z 2020-07-28T02:30:55Z 0 0 0 5416 CDBP05415 ATP-dependent (S)-NAD(P)H-hydrate dehydratase Q8IW45 true false Enzyme CARKD 36575.67 8.055 Catalyzes the dehydration of the S-form of NAD(P)HX at the expense of ATP, which is converted to ADP. Together with NAD(P)HX epimerase, which catalyzes the epimerization of the S- and R-forms, the enzyme allows the repair of both epimers of NAD(P)HX, a damaged form of NAD(P)H that is a result of enzymatic or heat-dependent hydration (By similarity). 13 13q34 HGNC:25576 true hsa:55739 NP_001229810.1:NM_001242881.1;NP_001229811.1:NM_001242882.1;NP_001229812.1:NM_001242883.1;NP_060680.2:NM_018210.3 Magnesium 2020-06-12T23:07:38Z 2020-07-28T02:30:55Z 0 0 0 5417 CDBP05416 Bifunctional lysine-specific demethylase and histidyl-hydroxylase NO66 Q9H6W3 true false Enzyme NO66 71084.97 6.455 Oxygenase that can act as both a histone lysine demethylase and a ribosomal histidine hydroxylase. Specifically demethylates 'Lys-4' (H3K4me) and 'Lys-36' (H3K36me) of histone H3, thereby playing a central role in histone code. Preferentially demethylates trimethylated H3 'Lys-4' (H3K4me3) and monomethylated H3 'Lys-4' (H3K4me1) residues, while it has weaker activity for dimethylated H3 'Lys-36' (H3K36me2). Also catalyzes the hydroxylation of 60S ribosomal protein L8 on 'His-216'. Acts as a regulator of osteoblast differentiation via its interaction with SP7/OSX by demethylating H3K4me and H3K36me, thereby inhibiting SP7/OSX-mediated promoter activation (By similarity). May also play a role in ribosome biogenesis and in the replication or remodeling of certain heterochromatic region. Participates in MYC-induced transcriptional activation. 4DIQ 14 14q24.3 HGNC:20968 true hsa:79697 NP_078920.2:NM_024644.3 Widely expressed. Overexpressed in lung carcinomas. Fe(2+) ion Interacts with SP7/OSX; the interaction is direct . Interacts with MYC 2020-06-12T23:07:38Z 2020-07-28T02:30:55Z 0 0 1 5418 CDBP05417 Nitrogen permease regulator 2-like protein Q8WTW4 true false Enzyme NPRL2 43658.085 6.528 Suppresses Src-dependent tyrosine phosphorylation and activation of PDPK1 and its downstream signaling. Down-regulates PDPK1 kinase activity by interfering with tyrosine phosphorylation at the Tyr-9 Tyr-373 and Tyr-376 residues. May act as a tumor suppressor. Suppresses cell growth and enhanced sensitivity to various anticancer drugs. 3 3p21.3 HGNC:24969 true hsa:10641 NP_006536.3:NM_006545.4 Most abundant in skeletal muscle, followed by brain, liver and pancreas, with lower amounts in lung, kidney, placenta and heart. Expressed in most lung cancer cell lines tested. Forms a heterodimer with NPRL3. Interacts with PDPK1 2020-06-12T23:07:38Z 2020-07-28T02:30:55Z 0 0 0 5419 CDBP05418 Nitrogen permease regulator 3-like protein Q12980 true false Enzyme NPRL3 63604.21 6.977 16 16p13.3 HGNC:14124 true hsa:8131 NP_001070818.1:NM_001077350.2 Widely expressed. Forms a heterodimer with NPRL2 2020-06-12T23:07:39Z 2020-07-28T02:30:55Z 0 0 0 5420 CDBP05419 Sodium-dependent phosphate transport protein 2A Q06495 false true Transporter SLC34A1 36602.125 6.651 May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Probably mediates 70-80% of the apical influx. 5 5q35 HGNC:11019 true hsa:6569 NP_001161051.1:NM_001167579.1;NP_003043.3:NM_003052.4 Kidney and lung. Interacts via its C-terminal region with PDZK2 . Interacts with SLC9A3R1 2020-06-12T23:07:39Z 2020-07-28T02:32:15Z 0 0 0 5421 CDBP05420 N-terminal Xaa-Pro-Lys N-methyltransferase 1 Q9BV86 true false Enzyme NTMT1 25386.78 5.51 Alpha-N-methyltransferase that methylates the N-terminus of target proteins containing the N-terminal motif [Ala/Pro/Ser]-Pro-Lys when the initiator Met is cleaved. Specifically catalyzes mono-, di- or tri-methylation of exposed alpha-amino group of Ala or Ser residue in the [Ala/Ser]-Pro-Lys motif and mono- or di-methylation of Pro in the Pro-Pro-Lys motif. Responsible for the N-terminal methylation of KLHL31, MYL2, MYL3, RB1, RCC1, RPL23A and SET. Required during mitosis for normal bipolar spindle formation and chromosome segregation via its action on RCC1. 2EX4 9 9q34.11 HGNC:23373 true hsa:28989 NP_054783.2:NM_014064.2 2020-06-12T23:07:39Z 2020-07-28T02:30:55Z 0 0 0 5422 CDBP05421 Alpha N-terminal protein methyltransferase 1B Q5VVY1 true false Enzyme METTL11B 32400.0 6.983 Alpha-N-methyltransferase that methylates the N-terminus of target proteins containing the N-terminal motif [Ala/Pro/Ser]-Pro-Lys when the initiator Met is cleaved. Specifically catalyzes mono-, di- or tri-methylation of exposed alpha-amino group of Ala or Ser residue in the [Ala/Ser]-Pro-Lys motif and mono- or di-methylation of Pro in the Pro-Pro-Lys motif (By similarity). 1 1q24.2 HGNC:31932 true hsa:149281 NP_001129579.1:NM_001136107.1 2020-06-12T23:07:39Z 2020-07-28T02:30:55Z 0 0 0 5423 CDBP05422 Dynamin-like 120 kDa protein, mitochondrial O60313 false false Enzyme OPA1 111629.755 7.873 Dynamin-related GTPase required for mitochondrial fusion and regulation of apoptosis. May form a diffusion barrier for proteins stored in mitochondrial cristae. Proteolytic processing in response to intrinsic apoptotic signals may lead to disassembly of OPA1 oligomers and release of the caspase activator cytochrome C (CYCS) into the mitochondrial intermembrane space. Dynamin-like 120 kDa protein, form S1: Inactive form produced by cleavage at S1 position by OMA1 following stress conditions that induce loss of mitochondrial membrane potential, leading to negative regulation of mitochondrial fusion. 3 3q28-q29 HGNC:8140 true hsa:4976 NP_056375.2:NM_015560.2 Highly expressed in retina. Also expressed in brain, testis, heart and skeletal muscle. Isoform 1 expressed in retina, skeletal muscle, heart, lung, ovary, colon, thyroid gland, leukocytes and fetal brain. Isoform 2 expressed in colon, liver, kidney, thyroid gland and leukocytes. Low levels of all isoforms expressed in a variety of tissues. Oligomeric complex consisting of membrane-bound and soluble forms of OPA1. Interacts with CHCHD3 and IMMT; these interactions occur preferentially with soluble OPA1 forms. Binds PARL 2020-06-12T23:07:39Z 2020-07-28T02:34:36Z 0 0 0 5424 CDBP05423 Poly(A) RNA polymerase, mitochondrial Q9NVV4 true false Enzyme MTPAP 66170.995 9.044 Polymerase that creates the 3' poly(A) tail of mitochondrial transcripts. Can use all four nucleotides, but has higher activity with ATP and UTP (in vitro). Plays a role in replication-dependent histone mRNA degradation. May be involved in the terminal uridylation of mature histone mRNAs before their degradation is initiated. Might be responsible for the creation of some UAA stop codons which are not encoded in mtDNA. 3PQ1 10 10p11.23 HGNC:25532 true hsa:55149 NP_060579.3:NM_018109.3 Ubiquitous, with stronger expression in tissues with high energy requirements: heart, brain, and skeletal muscle. Magnesium or manganese Homodimer 2020-06-12T23:07:39Z 2020-07-28T02:30:56Z 0 0 1 5425 CDBP05424 PAP-associated domain-containing protein 5 Q8NDF8 false false Metal Binding PAPD5 70806.56 9.508 Plays a role in replication-dependent histone mRNA degradation. May be involved in the terminal uridylation of mature histone mRNAs before their degradation is initiated. DNA polymerase, probably involved in DNA repair. May play a role in sister chromatid cohesion. 16 16q12.1 HGNC:30758 true hsa:64282 NP_001035375.2:NM_001040285.2 Magnesium or manganese 2020-06-12T23:07:39Z 2020-07-28T02:32:06Z 0 1 0 5426 CDBP05425 DNA polymerase sigma Q5XG87 true false Enzyme PAPD7 59745.09 9.39 DNA polymerase, probably involved in DNA repair. May play a role in sister chromatid cohesion. Does not play a role in replication-dependent histone mRNA degradation. 5 5p15 HGNC:16705 true hsa:11044 NP_001165276.1:NM_001171805.1;NP_001165277.1:NM_001171806.1;NP_008930.1:NM_006999.4 Magnesium or manganese 2020-06-12T23:07:39Z 2020-07-28T02:30:56Z 0 1 0 5427 CDBP05426 Iron/zinc purple acid phosphatase-like protein Q6ZNF0 true false Enzyme PAPL 50479.275 9.2 19 19q13.2 true hsa:390928 NP_001004318.2:NM_001004318.2 iron ion;zinc ion 2020-06-12T23:07:39Z 2020-07-28T02:30:56Z 0 1 0 5428 CDBP05427 Poly(A) polymerase beta Q9NRJ5 true false Enzyme PAPOLB 71811.97 6.449 7 7p22.1 HGNC:15970 true hsa:56903 NP_064529.4:NM_020144.4 Testis specific. magnesium ions. Also active with manganese Interacts with GSG1 2020-06-12T23:07:39Z 2020-07-28T02:30:56Z 0 1 1 5429 CDBP05428 Twinkle protein, mitochondrial Q96RR1 false false Transcription Factor PEO1 66014.925 8.113 Involved in mitochondrial DNA (mtDNA) metabolism. Could function as an adenine nucleotide-dependent DNA helicase. Function inferred to be critical for lifetime maintenance of mtDNA integrity. In vitro, forms in combination with POLG, a processive replication machinery, which can use double-stranded DNA (dsDNA) as template to synthesize single-stranded DNA (ssDNA) molecules. May be a key regulator of mtDNA copy number in mammals. 10 10q24 HGNC:1160 true hsa:56652 NP_001157284.1:NM_001163812.1;NP_068602.2:NM_021830.4 High relative levels in skeletal muscle, testis and pancreas. Lower levels of expression in the heart, brain, placenta, lung, liver, kidney, spleen, thymus, prostate, ovary, small intestine, colon and leukocytes. Expression is coregulated with MRPL43. Forms multimers in vitro, including hexamers. Interacts with POLG in vitro 2020-06-12T23:07:39Z 2020-07-28T02:32:07Z 0 0 1 5430 CDBP05429 N-acetylmuramoyl-L-alanine amidase Q96PD5 true false Enzyme PGLYRP2 May play a scavenger role by digesting biologically active peptidoglycan (PGN) into biologically inactive fragments. Has no direct bacteriolytic activity. HGNC:30013 true hsa:114770 NP_443122.3:NM_052890.3 Strongly expressed in liver and fetal liver, and secreted into serum. Expressed to a much lesser extent in transverse colon, lymph nodes, heart, thymus, pancreas, descending colon, stomach and testis. Isoform 2 is not detected in the liver or serum. Zinc 2020-06-12T23:07:39Z 2020-07-28T02:30:56Z 1 1 0 5431 CDBP05430 Geranylgeranyl transferase type-2 subunit alpha Q92696 true false Enzyme RABGGTA 65071.06 5.667 Catalyzes the transfer of a geranyl-geranyl moiety from geranyl-geranyl pyrophosphate to both cysteines in Rab proteins with an -XXCC, -XCXC and -CCXX C-terminal, such as RAB1A, RAB3A and RAB5A respectively. 14 14q11.2 HGNC:9795 true hsa:5875 NP_004572.3:NM_004581.5;NP_878256.1:NM_182836.2 zinc ion per dimer Heterodimer of an alpha and a beta subunit, collectively called component B. The Rab GGTase dimer (RGGT) can associate with CHM (component A) prior to Rab protein binding; the association is stabilized by geranylgeranyl pyrophosphate (GGpp). The CHM:RGGT:Rab complex is destabilized by GGpp 2020-06-12T23:07:39Z 2020-07-28T02:30:56Z 0 1 0 5432 CDBP05431 Geranylgeranyl transferase type-2 subunit beta P53611 true false Enzyme RABGGTB 36924.04 5.034 Catalyzes the transfer of a geranyl-geranyl moiety from geranyl-geranyl pyrophosphate to both cysteines in Rab proteins with an -XXCC, -XCXC and -CCXX C-terminal, such as RAB1A, RAB3A and RAB5A respectively. 1 1p31 HGNC:9796 true hsa:5876 NP_004573.2:NM_004582.3 zinc ion Heterodimer of an alpha and a beta subunit, collectively called component B. The Rab GGTase dimer (RGGT) can associate with CHM (component A) prior to Rab protein binding; the association is stabilized by geranylgeranyl pyrophosphate (GGpp). The CHM:RGGT:Rab complex is destabilized by GGpp. Interaction of beta subunit with prenylated PTP4A2 precludes its association with subunit alpha, and inhibits enzyme activity 2020-06-12T23:07:39Z 2020-07-28T02:30:56Z 0 1 0 5433 CDBP05432 Histone lysine demethylase PHF8 Q9UPP1 true false Enzyme PHF8 117862.955 8.718 Histone lysine demethylase with selectivity for the di- and monomethyl states that plays a key role cell cycle progression, rDNA transcription and brain development. Demethylates mono- and dimethylated histone H3 'Lys-9' residue (H3K9Me1 and H3K9Me2), dimethylated H3 'Lys-27' (H3K27Me2) and monomethylated histone H4 'Lys-20' residue (H4K20Me1). Acts as a transcription activator as H3K9Me1, H3K9Me2, H3K27Me2 and H4K20Me1 are epigenetic repressive marks. Involved in cell cycle progression by being required to control G1-S transition. Acts as a coactivator of rDNA transcription, by activating polymerase I (pol I) mediated transcription of rRNA genes. Required for brain development, probably by regulating expression of neuron-specific genes. Only has activity toward H4K20Me1 when nucleosome is used as a substrate and when not histone octamer is used as substrate. May also have weak activity toward dimethylated H3 'Lys-36' (H3K36Me2), however, the relevance of this result remains unsure in vivo. Specifically binds trimethylated 'Lys-4' of histone H3 (H3K4me3), affecting histone demethylase specificity: has weak activity toward H3K9Me2 in absence of H3K4me3, while it has high activity toward H3K9me2 when binding H3K4me3. 2WWU;3K3N;3K3O;3KV4;4DO0 X Xp11.22 HGNC:20672 true hsa:23133 NP_001171825.1:NM_001184896.1;NP_001171826.1:NM_001184897.1;NP_001171827.1:NM_001184898.1;NP_055922.1:NM_015107.2 Fe(2+) ion Interacts with POLR1B, UBTF, SETD1A, HCFC1, E2F1 and ZNF711 2020-06-12T23:07:39Z 2020-07-28T02:30:56Z 0 0 1 5434 CDBP05433 ATP-dependent DNA helicase PIF1 Q9H611 true false Enzyme PIF1 69797.78 9.718 DNA-dependent ATPase and DNA helicase inhibiting telomerase activity by unwinding DNA/RNA duplex formed by telomerase RNA and telomeric DNA in a 5' to 3' polarity. Negatively regulates telomere length and such inhibition requires its ATPase activity. Tightly cell cycle regulated and expressed in late S/G2 phase. 15 15q22.31 HGNC:26220 true hsa:80119 NP_079325.2:NM_025049.2 Weak ubiquitous expression. Interacts with telomerase 2020-06-12T23:07:39Z 2020-07-28T02:30:56Z 0 0 0 5435 CDBP05434 Pirin O00625 false false Enzyme PIR 32113.195 6.922 Possible transcriptional coregulator. May contribute to the regulation of cellular processes via its interaction with BCL3. May be required for efficient terminal myeloid maturation of hematopoietic cells. May play a role in the regulation of cell migration. May promote apoptosis when overexpressed. Has quercetin 2,3-dioxygenase activity (in vitro). 1J1L;3ACL X Xp22.2 HGNC:30048 true hsa:8544 NP_001018119.1:NM_001018109.2;NP_003653.1:NM_003662.3 Highly expressed in a subset of melanomas. Detected at very low levels in most tissues (at protein level). Expressed in all tissues, with highest level of expression in heart and liver. iron ion May interact with NF1/CTF1. Interacts with BCL3. Identified in a complex comprised of PIR, BLC3, NFKB1 and target DNA 2020-06-12T23:07:39Z 2020-07-28T02:34:37Z 0 1 1 5436 CDBP05435 Patatin-like phospholipase domain-containing protein 7 Q6ZV29 true false Enzyme PNPLA7 Serine hydrolase, whose specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy (By similarity). HGNC:24768 true hsa:375775 NP_001092007.1:NM_001098537.1;NP_689499.3:NM_152286.3 2020-06-12T23:07:39Z 2020-07-28T02:30:56Z 0 0 0 5437 CDBP05436 HERV-K_5q33.3 provirus ancestral Pol protein P10266 false false Metal Binding Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution. true 2020-06-12T23:07:39Z 2020-07-28T02:32:06Z 0 1 0 5438 CDBP05437 HERV-K_1q22 provirus ancestral Pol protein P63135 false false Metal Binding Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution. true 2020-06-12T23:07:39Z 2020-07-28T02:32:06Z 0 1 0 5439 CDBP05438 HERV-K_11q22.1 provirus ancestral Pol protein P63136 false false Metal Binding Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution. true 2020-06-12T23:07:39Z 2020-07-28T02:32:06Z 0 1 0 5440 CDBP05439 HERV-K_3q27.3 provirus ancestral Pol protein Q9UQG0 false false Metal Binding Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution. true 2020-06-12T23:07:39Z 2020-07-28T02:32:06Z 0 1 0 5441 CDBP05440 HERV-K_7p22.1 provirus ancestral Pol protein Q9BXR3 false false Metal Binding ERVK6 Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution. HGNC:13915 true 2020-06-12T23:07:39Z 2020-07-28T02:32:06Z 0 1 0 5442 CDBP05441 HERV-K_19q12 provirus ancestral Pol protein Q9WJR5 false false Metal Binding ERVK6 Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution. HGNC:13915 true 2020-06-12T23:07:39Z 2020-07-28T02:32:06Z 0 1 0 5443 CDBP05442 HERV-K_6q14.1 provirus ancestral Gag-Pol polyprotein P63128 false false Metal Binding The products of the Gag polyproteins of infectious retroviruses perform highly complex orchestrated tasks during the assembly, budding, maturation, and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. Endogenous Gag proteins may have kept, lost or modified their original function during evolution (By similarity). Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution (By similarity). true 2020-06-12T23:07:39Z 2020-07-28T02:32:06Z 0 1 0 5444 CDBP05443 HERV-K_19p13.11 provirus ancestral Pol protein P63132 false false Metal Binding Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution. true 2020-06-12T23:07:39Z 2020-07-28T02:32:06Z 0 1 0 5445 CDBP05444 HERV-K_8p23.1 provirus ancestral Pol protein P63133 false false Metal Binding Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution. true 2020-06-12T23:07:39Z 2020-07-28T02:32:06Z 0 1 0 5446 CDBP05445 HERV-K_1q23.3 provirus ancestral Pol protein Q9QC07 false false Metal Binding Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution. true 2020-06-12T23:07:39Z 2020-07-28T02:32:06Z 0 1 0 5447 CDBP05446 Probable protein phosphatase 1N Q8N819 true false Enzyme PPM1N 46168.985 6.62 19 19q13.32 HGNC:26845 true hsa:147699 NP_001073870.1:NM_001080401.1 magnesium or manganese ions 2020-06-12T23:07:39Z 2020-07-28T02:30:57Z 0 0 0 5448 CDBP05447 Protein phosphatase methylesterase 1 Q9Y570 true false Enzyme PPME1 43869.905 5.845 Demethylates proteins that have been reversibly carboxymethylated. Demethylates PPP2CB (in vitro) and PPP2CA. Binding to PPP2CA displaces the manganese ion and inactivates the enzyme. 3C5V;3C5W 11 11q13.4 HGNC:30178 true hsa:51400 MONOMER-16514 NP_001258522.1:NM_001271593.1;NP_057231.1:NM_016147.2 Binds PPP2CA and PPP2CB 2020-06-12T23:07:39Z 2020-07-28T02:30:57Z 0 0 0 5449 CDBP05448 Putative histone-lysine N-methyltransferase PRDM6 Q9NQX0 true false Enzyme PRDM6 64451.23 7.699 Putative histone methyltransferase that acts as a transcriptional repressor of smooth muscle gene expression. Promotes the transition from differentiated to proliferative smooth muscle by suppressing differentiation and maintaining the proliferative potential of vascular smooth muscle cells. Also plays a role in endothelial cells by inhibiting endothelial cell proliferation, survival and differentiation. It is unclear whether it has histone methyltransferase activity in vivo. According to some authors, it does not act as a histone methyltransferase by itself and represses transcription by recruiting EHMT2/G9a. According to others, it possesses histone methyltransferase activity when associated with other proteins and specifically methylates 'Lys-20' of histone H4 in vitro. 'Lys-20' methylation represents a specific tag for epigenetic transcriptional repression (By similarity). 5 5q23.2 HGNC:9350 true hsa:93166 NP_001129711.1:NM_001136239.1 Interacts with HDAC1, HDAC2, HDAC3, CBX1 and EP300 2020-06-12T23:07:39Z 2020-07-28T02:30:57Z 0 1 1 5450 CDBP05449 Probable histone-lysine N-methyltransferase PRDM7 Q9NQW5 true false Enzyme PRDM7 55777.045 7.879 Probable histone methyltransferase (By similarity). 16 16q24.3 HGNC:9351 true hsa:11105 NP_001091643.1:NM_001098173.1;NP_443722.2:NM_052996.2 2020-06-12T23:07:39Z 2020-07-28T02:30:57Z 0 0 1 5451 CDBP05450 Histone-lysine N-methyltransferase PRDM9 Q9NQV7 true false Enzyme PRDM9 103375.975 9.191 Histone methyltransferase that specifically trimethylates 'Lys-4' of histone H3 during meiotic prophase and is essential for proper meiotic progression. Does not have the ability to mono- and dimethylate 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Plays a central role in the transcriptional activation of genes during early meiotic prophase (By similarity). 5 5p14 HGNC:13994 true hsa:56979 NP_064612.2:NM_020227.2 2020-06-12T23:07:39Z 2020-07-28T02:30:57Z 0 1 1 5452 CDBP05451 DNA primase small subunit P49642 true false Enzyme PRIM1 DNA primase is the polymerase that synthesizes small RNA primers for the Okazaki fragments made during discontinuous DNA replication. HGNC:9369 true hsa:5557 NP_000937.1:NM_000946.2 Heterodimer of a small subunit and a large subunit 2020-06-12T23:07:39Z 2020-07-28T02:30:57Z 0 1 0 5453 CDBP05452 DNA primase large subunit P49643 true false Enzyme PRIM2 DNA primase is the polymerase that synthesizes small RNA primers for the Okazaki fragments made during discontinuous DNA replication. 3L9Q;3Q36 HGNC:9370 true hsa:5558 NP_000938.2:NM_000947.2 4Fe-4S cluster Heterodimer of a small subunit and a large subunit 2020-06-12T23:07:39Z 2020-07-28T02:30:57Z 0 1 0 5454 CDBP05453 Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 Q92620 true false Enzyme DHX38 140501.58 6.538 Probable ATP-binding RNA helicase involved in pre-mRNA splicing. 16 16q22 HGNC:17211 true hsa:9785 NP_054722.2:NM_014003.3 Identified in the spliceosome C complex 2020-06-12T23:07:39Z 2020-07-28T02:30:57Z 0 0 1 5455 CDBP05454 Tyrosine-protein phosphatase non-receptor type 20 Q4JDL3 false false Receptor PTPN20A 48422.455 5.768 Tyrosine-protein phosphatase targeted to sites of actin polymerization in response of varied extracellular stimuli. Has tyrosine phosphatase activity towards various tyrosyl phosphorylated substrates. 10 10q11.22 HGNC:23423 true hsa:653129 NP_001035816.1:NM_001042357.3;NP_001035817.1:NM_001042358.3;NP_001035818.1:NM_001042359.2;NP_001035819.1:NM_001042360.2;NP_001035820.1:NM_001042361.3;NP_001035821.1:NM_001042362.2;NP_001035822.1:NM_001042363.3;NP_001035823.1:NM_001042364.3;NP_001035846.1:NM_001042387.1;NP_001035848.1:NM_001042389.1;NP_001035849.1:NM_001042390.1;NP_001035850.1:NM_001042391.1;NP_001035851.1:NM_001042392.1;NP_001035852.1:NM_001042393.1;NP_001035853.1:NM_001042394.1;NP_001035854.1:NM_001042395.1;NP_001035855.1:NM_001042396.1;NP_056420.3:NM_015605.7 Present in many cell lines (at protein level). Widely expressed. 2020-06-12T23:07:39Z 2020-07-28T02:30:57Z 1 0 0 5456 CDBP05455 Phosphatidylinositol phosphatase PTPRQ Q9UMZ3 true false Enzyme PTPRQ Phosphatidylinositol phosphatase required for auditory function. May act by regulating the level of phosphatidylinositol 4,5-bisphosphate (PIP2) level in the basal region of hair bundles. Can dephosphorylate a broad range of phosphatidylinositol phosphates, including phosphatidylinositol 3,4,5-trisphosphate and most phosphatidylinositol monophosphates and diphosphates. Phosphate can be hydrolyzed from the D3 and D5 positions in the inositol ring. Has low tyrosine-protein phosphatase activity; however, the relevance of such activity in vivo is unclear. Plays an important role in adipogenesis of mesenchymal stem cells (MSCs). Regulates the phosphorylation state of AKT1 by suppressing the phosphatidylinositol 3,4,5-trisphosphate (PIP3) level in MSCs and preadipocyte cells. HGNC:9679 true In developing kidney, it localizes to the basal membrane of podocytes, beginning when podocyte progenitors can first be identified in the embryonic kidney (at protein level). Expressed in lung and kidney. 2020-06-12T23:07:39Z 2020-07-28T02:30:57Z 0 0 0 5457 CDBP05456 Putative peptidyl-tRNA hydrolase PTRHD1 Q6GMV3 true false Enzyme PTRHD1 15805.265 9.107 2 2p23.3 HGNC:33782 true hsa:391356 NP_001013685.1:NM_001013663.1 2020-06-12T23:07:39Z 2020-07-28T02:30:57Z 0 0 0 5458 CDBP05457 Glutaminyl-peptide cyclotransferase-like protein Q9NXS2 true false Enzyme QPCTL 32911.255 10.745 Responsible for the biosynthesis of pyroglutamyl peptides. 3PB4;3PB6;3PB7;3PB8;3PB9 19 19q13.32 HGNC:25952 true hsa:54814 NP_001156849.1:NM_001163377.1;NP_060129.2:NM_017659.3 zinc ion 2020-06-12T23:07:39Z 2020-07-28T02:30:57Z 0 1 0 5459 CDBP05458 Epidermal retinol dehydrogenase 2 Q8N3Y7 true false Enzyme SDR16C5 34095.0 8.454 Oxidoreductase with strong preference for NAD. Active in both the oxidative and reductive directions. Oxidizes all-trans-retinol in all-trans-retinaldehyde. No activity was detected with 11-cis-retinol or 11-cis-retinaldehyde as substrates with either NAD(+)/NADH or NADP(+)/NADPH. 8 8q12.1 HGNC:30311 true hsa:195814 ENSG00000170786-MONOMER NP_620419.2:NM_138969.2 Detected in adult lung. Detected at low levels in adult brain, heart, testis, placenta, cervix, pancreas, uterus, stomach, rectum, small intestine, colon, esophagus, thymus, skin, and skin keratinocyte. Expression is higher in psoriasis lesions relative to unaffected skin from psoriasis patients. Detected in fetal kidney, skin and lung. 2020-06-12T23:07:39Z 2020-07-28T02:30:57Z 0 0 0 5460 CDBP05459 ATP-dependent DNA helicase Q4 O94761 true false Enzyme RECQL4 133075.975 8.087 DNA-dependent ATPase. May modulate chromosome segregation. 2KMU 8 8q24.3 HGNC:9949 true hsa:9401 NP_004251.3:NM_004260.3 Ubiquitously expressed, with highest levels in thymus and testis. Interacts with UBR1 and UBR2. Interacts with MCM10; this interaction regulates RECQL4 unwinding activity 2020-06-12T23:07:39Z 2020-07-28T02:30:57Z 0 0 0 5461 CDBP05460 ATP-dependent DNA helicase Q5 O94762 true false Enzyme RECQL5 48508.56 9.022 May have an important role in DNA metabolism. 17 17q25 HGNC:9950 true hsa:9400 NP_001003715.1:NM_001003715.3;NP_001003716.1:NM_001003716.3;NP_004250.4:NM_004259.6 Ubiquitous. Interacts with TOP3A and TOP3B 2020-06-12T23:07:39Z 2020-07-28T02:30:57Z 0 0 0 5462 CDBP05461 DNA-directed RNA polymerase I subunit RPA12 Q9P1U0 true false Enzyme ZNRD1 DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors. HGNC:13182 true hsa:30834 NP_055411.1:NM_014596.4;NP_740753.1:NM_170783.2 Component of the RNA polymerase I (Pol I) complex consisting of at least 13 subunits 2020-06-12T23:07:39Z 2020-07-28T02:30:57Z 0 1 1 5463 CDBP05462 DNA-directed RNA polymerase I subunit RPA43 Q3B726 true false Enzyme TWISTNB 37432.025 6.976 DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors. Through its association with RRN3/TIF-IA may be involved in recruitment of Pol I to rDNA promoters. 7 7p21.1 HGNC:18027 true hsa:221830 NP_001002926.1:NM_001002926.1 Widely expressed. Expressed in all fetal and adult tissues tested, with highest expression in fetal lung, liver, and kidney, and low expression in all adult tissues. Component of the RNA polymerase I (Pol I) complex consisting of at least 13 subunits . Interacts with RRN3/TIF-IA 2020-06-12T23:07:39Z 2020-07-28T02:30:57Z 0 0 1 5464 CDBP05463 DNA-directed RNA polymerases I, II, and III subunit RPABC1 P19388 true false Enzyme POLR2E 24611.175 5.953 DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non-coding RNAs, and small RNAs, such as 5S rRNA and tRNAs, respectively. Pol II is the central component of the basal RNA polymerase II transcription machinery. Pols are composed of mobile elements that move relative to each other. In Pol II, POLR2E/RPB5 is part of the lower jaw surrounding the central large cleft and thought to grab the incoming DNA template. Seems to be the major component in this process (By similarity). 19 19p13.3 HGNC:9192 true hsa:5434 NP_002686.2:NM_002695.3 Component of the RNA polymerase I (Pol I), RNA polymerase II (Pol II) and RNA polymerase III (Pol III) complexes consisting of at least 13, 12 and 17 subunits, respectively . In RNA Pol II, this subunit is present in 2-fold molar excess over the other subunits. Interacts with URI1. Interacts with HBV protein X 2020-06-12T23:07:39Z 2020-07-28T02:30:58Z 0 0 1 5465 CDBP05464 DNA-directed RNA polymerases I, II, and III subunit RPABC2 P61218 true false Enzyme POLR2F 14477.92 4.217 DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II, and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non-coding RNAs, and small RNAs, such as 5S rRNA and tRNAs, respectively. Pol II is the central component of the basal RNA polymerase II transcription machinery. Pols are composed of mobile elements that move relative to each other. In Pol II, POLR2F/RPB6 is part of the clamp element and togther with parts of RPB1 and RPB2 forms a pocket to which the RPB4-RPB7 subcomplex binds (By similarity). 1QKL 22 22q13.1 HGNC:9193 true hsa:5435 NP_068809.1:NM_021974.3 Component of the RNA polymerase I (Pol I), RNA polymerase II (Pol II) and RNA polymerase III (Pol III) complexes consisting of at least 13, 12 and 17 subunits, respectively 2020-06-12T23:07:39Z 2020-07-28T02:30:58Z 0 0 1 5466 CDBP05465 DNA-directed RNA polymerases I, II, and III subunit RPABC3 P52434 true false Enzyme POLR2H 17143.115 4.678 DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non-coding RNAs, and small RNAs, such as 5S rRNA and tRNAs, respectively. 2F3I 3 3q28 HGNC:9195 true hsa:5437 NP_006223.2:NM_006232.2 Component of the RNA polymerase I (Pol I), RNA polymerase II (Pol II) and RNA polymerase III (Pol III) complexes consisting of at least 13, 12 and 17 subunits, respectively. Directly interacts with POLR2A 2020-06-12T23:07:39Z 2020-07-28T02:30:58Z 0 0 1 5467 CDBP05466 DNA-directed RNA polymerases I, II, and III subunit RPABC4 P53803 true false Enzyme POLR2K 7004.145 9.063 DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non-coding RNAs, and a small RNAs, such as 5S rRNA and tRNAs, respectively. 8 8q22.2 HGNC:9198 true hsa:5440 NP_005025.1:NM_005034.3 Component of the RNA polymerase I (Pol I), RNA polymerase II (Pol II) and RNA polymerase III (Pol III) complexes consisting of at least 13, 12 and 17 subunits, respectively 2020-06-12T23:07:39Z 2020-07-28T02:30:58Z 0 1 1 5468 CDBP05467 DNA-directed RNA polymerases I, II, and III subunit RPABC5 P62875 true false Enzyme POLR2L 7645.02 7.771 DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non-coding RNAs, and a small RNAs, such as 5S rRNA and tRNAs, respectively. Pol II is the central component of the basal RNA polymerase II transcription machinery. Pols are composed of mobile elements that move relative to each other. In Pol II, POLR2L/RBP10 is part of the core element with the central large cleft (By similarity). 11 11p15 HGNC:9199 true hsa:5441 NP_066951.1:NM_021128.4 Component of the RNA polymerase I (Pol I), RNA polymerase II (Pol II) and RNA polymerase III (Pol III) complexes consisting of at least 13, 12 and 17 subunits, respectively 2020-06-12T23:07:39Z 2020-07-28T02:30:58Z 0 1 1 5469 CDBP05468 DNA-directed RNA polymerases I and III subunit RPAC1 O15160 true false Enzyme POLR1C 39249.375 5.504 DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I and III which synthesize ribosomal RNA precursors and small RNAs, such as 5S rRNA and tRNAs, respectively. RPAC1 is part of the Pol core element with the central large cleft and probably a clamp element that moves to open and close the cleft (By similarity). 6 6p21.1 HGNC:20194 true hsa:9533 NP_976035.1:NM_203290.2 Component of the RNA polymerase I (Pol I) and RNA polymerase III (Pol III) complexes consisting of at least 13 and 17 subunits, respectively 2020-06-12T23:07:39Z 2020-07-28T02:30:58Z 0 0 1 5470 CDBP05469 Putative RNA polymerase II subunit B1 CTD phosphatase RPAP2 Q8IXW5 true false Enzyme RPAP2 69508.135 7.788 Protein phosphatase that displays CTD phosphatase activity and regulates transcription of snRNA genes. Recognizes and binds phosphorylated 'Ser-7' of the C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit POLR2A, and mediates dephosphorylation of 'Ser-5' of the CTD, thereby promoting transcription of snRNA genes. 1 1p22.1 HGNC:25791 true hsa:79871 NP_079089.2:NM_024813.2 Associates with the RNA polymerase II complex. Interacts with transcribing RNA polymerase II phosphorylated on 'Ser-7' on CTD 2020-06-12T23:07:39Z 2020-07-28T02:30:58Z 0 1 1 5471 CDBP05470 DNA-directed RNA polymerase II subunit RPB11-a P52435 true false Enzyme POLR2J 13293.19 5.861 DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB11 is part of the core element with the central large cleft (By similarity). 7 7q22.1 HGNC:9197 true hsa:5439 NP_006225.1:NM_006234.4 Ubiquitously expressed. High expression was found in heart and skeletal muscle. Component of the RNA polymerase II (Pol II) complex consisting of 12 subunits. Interacts with AATF 2020-06-12T23:07:39Z 2020-07-28T02:30:58Z 0 0 1 5472 CDBP05471 DNA-directed RNA polymerase II subunit RPB11-b1 Q9GZM3 true false Enzyme POLR2J2 13074.07 6.291 DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB11 is part of the core element with the central large cleft (By similarity). 7 7q22.1 HGNC:23208 true hsa:548644 NP_001091084.2:NM_001097615.2 Ubiquitously expressed. Component of the RNA polymerase II (Pol II) complex consisting of 12 subunits 2020-06-12T23:07:39Z 2020-07-28T02:30:58Z 0 0 1 5473 CDBP05472 DNA-directed RNA polymerase II subunit RPB3 P19387 true false Enzyme POLR2C 31440.86 4.92 DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB3 is part of the core element with the central large cleft and the clamp element that moves to open and close the cleft (By similarity). 16 16q13-q21 HGNC:9189 true hsa:5432 NP_116558.1:NM_032940.2 Component of the RNA polymerase II (Pol II) complex consisting of 12 subunits. RPB11/POLR2J and RPB3/POLR2C subunits interact with each other 2020-06-12T23:07:39Z 2020-07-28T02:30:58Z 0 0 1 5474 CDBP05473 DNA-directed RNA polymerase II subunit RPB4 O15514 true false Enzyme POLR2D 16311.105 4.795 DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB4 is part of a subcomplex with RPB7 that binds to a pocket formed by RPB1, RPB2 and RPB6 at the base of the clamp element. The RBP4-RPB7 subcomplex seems to lock the clamp via RPB7 in the closed conformation thus preventing double stranded DNA to enter the active site cleft. The RPB4-RPB7 subcomplex binds single-stranded DNA and RNA (By similarity). 2C35 2 2q21 HGNC:9191 true hsa:5433 NP_004796.1:NM_004805.3 Component of the RNA polymerase II (Pol II) complex consisting of 12 subunits. RPB4 and RPB7 form a subcomplex that protrudes from the 10-subunit Pol II core complex 2020-06-12T23:07:39Z 2020-07-28T02:30:58Z 0 0 1 5475 CDBP05474 DNA-directed RNA polymerase II subunit RPB7 P62487 true false Enzyme POLR2G 19294.195 5.545 DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB7 is part of a subcomplex with RPB4 that binds to a pocket formed by RPB1, RPB2 and RPB6 at the base of the clamp element. The RBP4-RPB7 subcomplex seems to lock the clamp via RPB7 in the closed conformation thus preventing double stranded DNA to enter the active site cleft. The RPB4-RPB7 subcomplex binds single-stranded DNA and RNA (By similarity). Binds RNA. 2C35 11 11q13.1 HGNC:9194 true hsa:5436 NP_002687.1:NM_002696.2 Component of the RNA polymerase II (Pol II) complex consisting of 12 subunits. RPB4 and RPB7 form a subcomplex that protrudes from the 10-subunit Pol II core complex 2020-06-12T23:07:39Z 2020-07-28T02:30:58Z 0 0 1 5476 CDBP05475 DNA-directed RNA polymerase II subunit RPB9 P36954 true false Enzyme POLR2I 14523.1 5.138 DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB9 is part of the upper jaw surrounding the central large cleft and thought to grab the incoming DNA template (By similarity). 19 19q12 HGNC:9196 true hsa:5438 NP_006224.1:NM_006233.4 Component of the RNA polymerase II (Pol II) complex consisting of 12 subunits 2020-06-12T23:07:39Z 2020-07-28T02:30:58Z 0 1 1 5477 CDBP05476 DNA-directed RNA polymerase III subunit RPC3 Q9BUI4 true false Enzyme POLR3C DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific core component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. May direct with other members of the subcomplex RNA Pol III binding to the TFIIIB-DNA complex via the interactions between TFIIIB and POLR3F. May be involved either in the recruitment and stabilization of the subcomplex within RNA polymerase III, or in stimulating catalytic functions of other subunits during initiation. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway. 2XUB;2XV4 HGNC:30076 true hsa:10623 NP_006459.3:NM_006468.6;XP_003960209.1:XM_003960160.1 Component of the RNA polymerase III (Pol III) complex consisting of 17 subunits . RPC3/POLR3C, RPC6/POLR3F and RPC7/POLR3G form a Pol III subcomplex. Interacts with GTF3C4 (By similarity) 2020-06-12T23:07:39Z 2020-07-28T02:30:58Z 0 0 1 5478 CDBP05477 DNA-directed RNA polymerase III subunit RPC5 Q9NVU0 true false Enzyme POLR3E DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Essential for efficient transcription from both the type 2 VAI and type 3 U6 RNA polymerase III promoters. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway (By similarity). HGNC:30347 true hsa:55718 NP_001244962.1:NM_001258033.1;NP_001244963.1:NM_001258034.1;NP_001244964.1:NM_001258035.1;NP_001244965.1:NM_001258036.1;NP_060589.1:NM_018119.3;XP_003960668.1:XM_003960619.1;XP_003960669.1:XM_003960620.1;XP_003960670.1:XM_003960621.1;XP_003960672.1:XM_003960623.1 Component of the RNA polymerase III (Pol III) complex consisting of 17 subunits . Interacts with POLR3D/RPC4 2020-06-12T23:07:39Z 2020-07-28T02:30:58Z 0 0 1 5479 CDBP05478 DNA-directed RNA polymerase III subunit RPC6 Q9H1D9 true false Enzyme POLR3F DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. May direct RNA Pol III binding to the TFIIIB-DNA complex. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway. 2DK5;2YU3 HGNC:15763 true hsa:10621 NP_006457.2:NM_006466.2 Component of the RNA polymerase III (Pol III) complex consisting of 17 subunits. RPC3/POLR3C, RPC6/POLR3F and RPC7/POLR3G form a Pol III subcomplex . Interacts with TBP and TFIIIB90 and GTF3C4 2020-06-12T23:07:39Z 2020-07-28T02:30:58Z 0 0 1 5480 CDBP05479 tRNA-splicing ligase RtcB homolog Q9Y3I0 true false Enzyme C22orf28 55209.95 7.218 Catalytic subunit of the tRNA-splicing ligase complex that acts by directly joining spliced tRNA halves to mature-sized tRNAs by incorporating the precursor-derived splice junction phosphate into the mature tRNA as a canonical 3',5'-phosphodiester. May act as a RNA ligase with broad substrate specificity, and may function toward other RNAs. 22 22q12 HGNC:26935 true hsa:51493 NP_055121.1:NM_014306.4 Catalytic component of the tRNA-splicing ligase complex 2020-06-12T23:07:39Z 2020-07-28T02:30:58Z 0 1 0 5481 CDBP05480 Regulator of telomere elongation helicase 1 Q9NZ71 true false Enzyme RTEL1 133681.63 8.298 ATP-dependent DNA helicase required to suppress inappropriate homologous recombination, thereby playing a central role DNA repair and in the maintenance of genomic stability. Antagonizes homologous recombination by promoting the disassembly of D loop recombination intermediates. Also required to regulate telomere length; probably due to its anti-recombinase function. 20 20q13.3 HGNC:15888 true hsa:51750 NP_057518.1:NM_016434.3;NP_116575.3:NM_032957.4 2020-06-12T23:07:39Z 2020-07-28T02:30:59Z 0 1 0 5482 CDBP05481 RuvB-like 1 Q9Y265 false false Transcription Factor RUVBL1 50227.605 6.418 Possesses single-stranded DNA-stimulated ATPase and ATP-dependent DNA helicase (3' to 5') activity; hexamerization is thought to be critical for ATP hydrolysis and adjacent subunits in the ring-like structure contribute to the ATPase activity. Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. The NuA4 complex ATPase and helicase activities seem to be, at least in part, contributed by the association of RUVBL1 and RUVBL2 with EP400. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. Plays an essential role in oncogenic transformation by MYC and also modulates transcriptional activation by the LEF1/TCF1-CTNNB1 complex. Essential for cell proliferation. May be able to bind plasminogen at cell surface and enhance plasminogen activation. 2C9O;2XSZ 3 3q21 HGNC:10474 true hsa:8607 NP_003698.1:NM_003707.2 Ubiquitously expressed with high expression in heart, skeletal muscle and testis. Forms homohexameric rings. Can form a dodecamer with RUVBL2 made of two stacked hexameric rings; however, even though RUVBL1 and RUVBL2 are present in equimolar ratio, the oligomeric status of each hexamer is not known. Oligomerization may regulate binding to nucleic acids and conversely, binding to nucleic acids may affect the dodecameric assembly. Interacts with the transcriptional activation domain of MYC. Component of the RNA polymerase II holoenzyme complex. May also act to bridge the LEF1/TCF1-CTNNB1 complex and TBP. Component of the NuA4 histone acetyltransferase complex which contains the catalytic subunit KAT5/TIP60 and the subunits EP400, TRRAP/PAF400, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, ING3, actin, ACTL6A/BAF53A, MORF4L1/MRG15, MORF4L2/MRGX, MRGBP, YEATS4/GAS41, VPS72/YL1 and MEAF6. The NuA4 complex interacts with MYC and the adenovirus E1A protein. RUVBL1 interacts with EP400. Component of a NuA4-related complex which contains EP400, TRRAP/PAF400, SRCAP, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, actin, ACTL6A/BAF53A, VPS72 and YEATS4/GAS41. Component of the BAF53 complex, at least composed of ACTL6A/BAF53A, RUVBL1/TIP49, SMARCA2/BRM, and TRRAP/PAF400. Component of some MLL1/MLL complex, at least composed of the core components MLL, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, MYST1/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Associates with alpha and gamma tubulins, particularly during metaphase and early anaphase. Interacts with NPAT. Component of the chromatin-remodeling INO80 complex; specifically part of a complex module associated with the helicase ATP-binding and the helicase C-terminal domain of INO80. Interacts with IGHMBP2. Interacts with OFD1 2020-06-12T23:07:39Z 2020-07-28T02:32:07Z 0 0 1 5483 CDBP05482 Mitochondrial coenzyme A transporter SLC25A42 Q86VD7 false true Transporter SLC25A42 35408.725 10.073 Mitochondrial carrier mediating the transport of coenzyme A (CoA) in mitochondria in exchange for intramitochondrial (deoxy)adenine nucleotides and adenosine 3',5'-diphosphate. 19 19p13.11 HGNC:28380 true hsa:284439 NP_848621.2:NM_178526.4 2020-06-12T23:07:39Z 2020-07-28T02:32:15Z 0 0 0 5484 CDBP05483 Sulfate anion transporter 1 Q9H2B4 false true Transporter SLC26A1 75014.72 8.104 High affinity uptake of sulfate. Accepts oxalate, but not succinate as a cosubstrate. 4 4p16.3 HGNC:10993 true hsa:10861 NP_071325.2:NM_022042.2;NP_602297.1:NM_134425.1;NP_998778.1:NM_213613.2 Expressed most abundantly in the kidney and liver, with lower levels in the pancreas, testis, brain, small intestine, colon, and lung. 2020-06-12T23:07:39Z 2020-07-28T02:32:15Z 0 0 0 5485 CDBP05484 CMP-sialic acid transporter P78382 false true Transporter SLC35A1 29918.335 9.061 Transports CMP-sialic acid from the cytosol into Golgi vesicles where glycosyltransferases function. 6 6q15 HGNC:11021 true hsa:10559 NP_001161870.1:NM_001168398.1;NP_006407.1:NM_006416.4 2020-06-12T23:07:39Z 2020-07-28T02:32:15Z 0 0 0 5486 CDBP05485 UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter Q76EJ3 false true Transporter SLC35D2 36672.12 8.689 Antiporter transporting nucleotide sugars such as UDP-N-acetylglucosamine (UDP-GlcNAc), UDP-glucose (UDP-Glc) and GDP-mannose (GDP-Man) pooled in the cytosol into the lumen of the Golgi in exchange for the corresponding nucleosides monophosphates (UMP for UDP-sugars and GMP for GDP-sugars). May take part in heparan sulfate synthesis by supplying UDP-Glc-NAc, the donor substrate, and thus be involved in growth factor signaling. 9 9q22.32 HGNC:20799 true hsa:11046 NP_008932.2:NM_007001.2 Highly expressed in heart, kidney, small intestine, placenta, lung and peripheral blood leukocyte. Weakly expressed in skeletal muscle and spleen. Not expressed in brain, colon and thymus. 2020-06-12T23:07:39Z 2020-07-28T02:32:15Z 0 0 0 5487 CDBP05486 Zinc transporter ZIP1 Q9NY26 false true Transporter SLC39A1 34249.215 5.922 Mediates zinc uptake. May function as a major endogenous zinc uptake transporter in many cells of the body. Responsible for the rapid uptake and accumulation of physiologically effective zinc in prostate cells. 1 1q21 HGNC:12876 true hsa:27173 NP_001258886.1:NM_001271957.1;NP_001258887.1:NM_001271958.1;NP_001258888.1:NM_001271959.1;NP_001258889.1:NM_001271960.1;NP_055252.2:NM_014437.4 Ubiquitous. Expressed in most adult and fetal tissues including the epidermis. 2020-06-12T23:07:40Z 2020-07-28T02:32:15Z 0 0 0 5488 CDBP05487 Zinc transporter ZIP2 Q9NP94 false true Transporter SLC39A2 32742.03 6.294 Mediates zinc uptake. Zinc uptake may be mediated by a Zn(2+)-HCO(3)(-) symport mechanism and can function in the presence of albumin. May also transport other divalent cations. May be important in contact inhibition of normal epithelial cells and loss of its expression may play a role in tumorigenesis. 14 14q11.2 HGNC:17127 true hsa:29986 NP_055394.2:NM_014579.3 Expressed only in prostate and uterine epithelial cells. 2020-06-12T23:07:40Z 2020-07-28T02:32:15Z 0 0 0 5489 CDBP05488 Zinc transporter ZIP3 Q9BRY0 false true Transporter SLC39A3 33600.495 6.878 Acts as a zinc-influx transporter (Potential). 19 19p13.3 HGNC:17128 true hsa:29985 NP_653165.2:NM_144564.4;NP_998733.1:NM_213568.1 2020-06-12T23:07:40Z 2020-07-28T02:32:15Z 0 0 0 5490 CDBP05489 Zinc transporter ZIP4 Q6P5W5 false true Transporter SLC39A4 66161.175 5.51 Plays an important role in cellular zinc homeostasis as a zinc transporter. Regulated in response to zinc availability (By similarity). 8 8q24.3 HGNC:17129 true hsa:55630 NP_060237.2:NM_017767.2;NP_570901.2:NM_130849.2 Highly expressed in kidney, small intestine, stomach, colon, jejunum and duodenum. 2020-06-12T23:07:40Z 2020-07-28T02:32:15Z 0 0 0 5491 CDBP05490 Zinc transporter ZIP5 Q6ZMH5 false true Transporter SLC39A5 56460.165 6.823 May play a role in polarized cells by carrying out serosal-to-mucosal zinc transport. Seems to play a central role in controlling organismal zinc status (By similarity). 12 12q13.3 HGNC:20502 true hsa:283375 NP_001128667.1:NM_001135195.1;NP_775867.2:NM_173596.2 Expressed in liver, kidney, pancreas, small intestine, colon, spleen, fetal liver and fetal kidney. 2020-06-12T23:07:40Z 2020-07-28T02:32:15Z 0 0 0 5492 CDBP05491 Zinc transporter ZIP6 Q13433 false true Transporter SLC39A6 48605.05 6.514 May act as a zinc-influx transporter. 18 18q12.2 HGNC:18607 true hsa:25800 NP_001092876.1:NM_001099406.1;NP_036451.3:NM_012319.3 Highly expressed in the breast, prostate, placenta, kidney, pituitary and corpus callosum. Weakly expressed in heart and intestine. Also highly expressed in cells derived from an adenocarcinoma of the cervix and lung carcinoma. 2020-06-12T23:07:40Z 2020-07-28T02:32:15Z 0 0 0 5493 CDBP05492 Zinc transporter SLC39A7 Q92504 false true Transporter SLC39A7 50117.95 6.873 6 6p21.3 HGNC:4927 true hsa:7922 NP_001070984.1:NM_001077516.1;NP_008910.2:NM_006979.2 Major expression in placenta, lung, kidney and pancreas. 2020-06-12T23:07:40Z 2020-07-28T02:32:15Z 0 0 0 5494 CDBP05493 Zinc transporter ZIP8 Q9C0K1 false true Transporter SLC39A8 49630.175 6.093 Acts as a zinc-influx transporter. 4 4q22-q24 HGNC:20862 true hsa:64116 NP_001128618.1:NM_001135146.1;NP_001128619.1:NM_001135147.1;NP_001128620.1:NM_001135148.1;NP_071437.3:NM_022154.5 Expressed in thymus, placenta, lung, liver, pancreas and, to a lower extent, in spleen, testis, ovary, small intestine, colon, leukocyte, heart. Highest expression is observed in pancreas. 2020-06-12T23:07:40Z 2020-07-28T02:32:15Z 0 0 0 5495 CDBP05494 Zinc transporter ZIP9 Q9NUM3 false true Transporter SLC39A9 29930.595 6.678 May act as a zinc-influx transporter (By similarity). 14 14q24.1 HGNC:20182 true hsa:55334 NP_001239077.1:NM_001252148.1;NP_001239079.1:NM_001252150.1;NP_001239080.1:NM_001252151.1;NP_001239081.1:NM_001252152.1;NP_060845.2:NM_018375.4 2020-06-12T23:07:40Z 2020-07-28T02:32:15Z 0 0 0 5496 CDBP05495 Zinc transporter ZIP10 Q9ULF5 false true Transporter SLC39A10 94131.47 6.753 May act as a zinc-influx transporter. 2 2q32.3 HGNC:20861 true hsa:57181 NP_001120729.1:NM_001127257.1;NP_065075.1:NM_020342.2 2020-06-12T23:07:40Z 2020-07-28T02:32:15Z 0 0 0 5497 CDBP05496 Zinc transporter ZIP11 Q8N1S5 false true Transporter SLC39A11 35395.665 5.608 May act as a zinc-influx transporter (By similarity). 17 17q21.31 HGNC:14463 true hsa:201266 NP_001153242.1:NM_001159770.1;NP_631916.2:NM_139177.3 2020-06-12T23:07:40Z 2020-07-28T02:32:15Z 0 0 0 5498 CDBP05497 Zinc transporter ZIP12 Q504Y0 false true Transporter SLC39A12 76665.43 6.287 Acts as a zinc-influx transporter (Potential). May be partly involved in the outbreak of schizophrenia. 10 10p12.33 HGNC:20860 true hsa:221074 NP_001138667.1:NM_001145195.1;NP_689938.2:NM_152725.3 Expressed in brain and eye. 2020-06-12T23:07:40Z 2020-07-28T02:32:15Z 0 0 0 5499 CDBP05498 Zinc transporter ZIP13 Q96H72 false true Transporter SLC39A13 38938.04 5.443 Acts as a zinc-influx transporter. 11 11p11.2 HGNC:20859 true hsa:91252 NP_001121697.1:NM_001128225.2;NP_689477.2:NM_152264.4 Homodimer (Probable) 2020-06-12T23:07:40Z 2020-07-28T02:32:15Z 0 0 0 5500 CDBP05499 Solute carrier family 52, riboflavin transporter, member 2 Q9HAB3 false true Transporter SLC52A2 45776.61 7.146 Riboflavin transporter. Riboflavin transport is Na(+)-independent but moderately pH-sensitive. Activity is strongly inhibited by riboflavin analogs, such as lumiflavin. Weakly inhibited by flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN). In case of infection by retroviruses, acts as a cell receptor to retroviral envelopes similar to the porcine endogenous retrovirus (PERV-A). 8 8q24.3 HGNC:30224 true hsa:79581 NP_001240744.1:NM_001253815.1;NP_001240745.1:NM_001253816.1;NP_078807.1:NM_024531.4 Highly expressed in brain, fetal brain and salivary gland. Weakly expressed in other tissues. 2020-06-12T23:07:40Z 2020-07-28T02:32:15Z 0 0 0 5501 CDBP05500 Solute carrier family 52, riboflavin transporter, member 3 Q9NQ40 false true Transporter SLC52A3 50804.56 5.794 Riboflavin transporter. Riboflavin transport is Na(+)-independent but moderately pH-sensitive. Activity is strongly inhibited by riboflavin analogs, such as lumiflavin, flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), and to a lesser extent by amiloride. 20 20p13 HGNC:16187 true hsa:113278 NP_212134.3:NM_033409.3 Predominantly expressed in testis. Highly expressed in small intestine and prostate. 2020-06-12T23:07:40Z 2020-07-28T02:32:15Z 0 0 0 5502 CDBP05501 Putative RNA polymerase II subunit A C-terminal domain phosphatase SSU72-like protein 2 A8MSY0 true false Enzyme May be involved in the C-terminal domain of RNA polymerase II dephosphorylation, RNA processing and termination (By similarity). true 2020-06-12T23:07:40Z 2020-07-28T02:30:59Z 0 0 0 5503 CDBP05502 Histone-lysine N-methyltransferase setd3 Q86TU7 true false Enzyme SETD3 67256.535 5.961 Histone methyltransferase that methylates 'Lys-36' of histone H3 (H3K36me). H3 'Lys-36' methylation represents a specific tag for epigenetic transcriptional activation (By similarity). 3SMT 14 14q32.2 HGNC:20493 true hsa:84193 NP_115609.2:NM_032233.2;NP_954574.1:NM_199123.1 2020-06-12T23:07:40Z 2020-07-28T02:30:59Z 0 0 1 5504 CDBP05503 Sphingosine-1-phosphate phosphatase 1 Q9BX95 true false Enzyme SGPP1 Has enzymatic activity against both sphingosine 1-phosphate (S1P) and dihydro-S1P. Regulates intracellular and extracellular S1P levels. HGNC:17720 true hsa:81537 NP_110418.1:NM_030791.2 Ubiquitous, with the strongest level in placenta and kidney. 2020-06-12T23:07:40Z 2020-07-28T02:31:00Z 0 0 0 5505 CDBP05504 CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2 Q16842 true false Enzyme ST3GAL2 40172.565 8.351 It may be responsible for the synthesis of the sequence NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc- found in terminal carbohydrate groups of certain glycoproteins, oligosaccharides and glycolipids. SIAT4A and SIAT4B sialylate the same acceptor substrates but exhibit different Km values. 16 16q22.1 HGNC:10863 true hsa:6483 NP_008858.1:NM_006927.3 Highly expressed in skeletal muscle and heart and to a much lesser extent in brain, placenta, liver and pancreas. Scarcely detectable in lung and kidney. 2020-06-12T23:07:40Z 2020-07-28T02:31:00Z 0 0 0 5506 CDBP05505 Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 Q9NSC7 true false Enzyme ST6GALNAC1 68563.845 9.92 17 17q25.1 HGNC:23614 true hsa:55808 NP_060884.1:NM_018414.3 2020-06-12T23:07:40Z 2020-07-28T02:31:00Z 0 0 0 5507 CDBP05506 Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 Q9UJ37 true false Enzyme ST6GALNAC2 41938.815 9.318 17 17q25.1 HGNC:10867 true hsa:10610 NP_006447.2:NM_006456.2 Expressed in skeletal muscle, heart, kidney, placenta, lung and leukocytes. 2020-06-12T23:07:40Z 2020-07-28T02:31:00Z 0 0 0 5508 CDBP05507 Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 Q8NDV1 true false Enzyme ST6GALNAC3 24021.865 9.252 Involved in the biosynthesis of ganglioside GD1A from GM1B. Transfers CMP-NeuAc with an alpha-2,6-linkage to GalNAc residue on NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc of glycoproteins and glycolipids. ST6GalNAcIII prefers glycolipids to glycoproteins (By similarity). 1 1p31.1 HGNC:19343 true hsa:256435 NP_001153483.1:NM_001160011.1;NP_694541.2:NM_152996.2 2020-06-12T23:07:40Z 2020-07-28T02:31:00Z 0 0 0 5509 CDBP05508 Beta-galactoside alpha-2,6-sialyltransferase 1 P15907 true false Enzyme ST6GAL1 46604.235 9.006 Transfers sialic acid from the donor of substrate CMP-sialic acid to galactose containing acceptor substrates. 3 3q27-q28 HGNC:10860 true hsa:6480 NP_003023.1:NM_003032.2;NP_775323.1:NM_173216.2;NP_775324.1:NM_173217.2 2020-06-12T23:07:40Z 2020-07-28T02:31:00Z 0 0 0 5510 CDBP05509 Beta-galactoside alpha-2,6-sialyltransferase 2 Q96JF0 true false Enzyme ST6GAL2 60157.39 9.747 Transfers sialic acid from the donor of substrate CMP-sialic acid to galactose containing acceptor substrates. Has alpha-2,6-sialyltransferase activity toward oligosaccharides that have the Gal-beta-1,4-GlcNAc sequence at the non-reducing end of their carbohydrate groups, but it has weak or no activities toward glycoproteins and glycolipids. 2 2q11.2-q12.1 HGNC:10861 true hsa:84620 NP_001135823.1:NM_001142351.1;NP_001135824.1:NM_001142352.1;NP_115917.1:NM_032528.2 Weakly expressed in some tissues, such as small intestine, colon and fetal brain. 2020-06-12T23:07:40Z 2020-07-28T02:31:00Z 0 0 0 5511 CDBP05510 Superkiller viralicidic activity 2-like 2 P42285 false false Enzyme SKIV2L2 117803.765 6.529 May be involved in pre-mRNA splicing. Associated with the RNA exosome complex and involved in the 3'processing of the 7S pre-RNA to the mature 5.8S rRNA. 5 5q11.2 HGNC:18734 true hsa:23517 NP_056175.3:NM_015360.4 Associated with the RNA exosome complex. Identified in the spliceosome C complex 2020-06-12T23:07:40Z 2020-07-28T02:34:38Z 0 0 0 5512 CDBP05511 DNA-binding protein SMUBP-2 P38935 false false Enzyme IGHMBP2 109148.07 8.967 5' to 3' helicase that unwinds RNA and DNA duplices in an ATP-dependent reaction. Acts as a transcription regulator. Required for the transcriptional activation of the flounder liver-type antifreeze protein gene. Exhibits strong binding specificity to the enhancer element B of the flounder antifreeze protein gene intron. Binds to the insulin II gene RIPE3B enhancer region. May be involved in translation (By similarity). DNA-binding protein specific to 5'-phosphorylated single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch region. Preferentially binds to the 5'-GGGCT-3' motif. Interacts with tRNA-Tyr. Stimulates the transcription of the human neurotropic virus JCV. 1MSZ;2LRR;4B3F;4B3G 11 11q13.3 HGNC:5542 true hsa:3508 NP_002171.2:NM_002180.2 Expressed in all tissues examined. Homooligomer. Interacts with RUVBL1, RUVBL2, GTF3C1 and ABT1. Is part of large cytosolic ribonucleoprotein complexes (Probable). Associates with the ribosomes 2020-06-12T23:07:40Z 2020-07-28T02:34:38Z 0 1 1 5513 CDBP05512 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 Q9H4L7 false false Transcription Factor SMARCAD1 117601.555 5.556 DNA helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity and is both required for DNA repair and heterochromatin organization. Promotes DNA end resection of double-strand breaks (DSBs) following DNA damage: probably acts by weakening histone DNA interactions in nucleosomes flanking DSBs. Required for the restoration of heterochromatin organization after replication. Acts at replication sites to facilitate the maintenance of heterochromatin by directing H3 and H4 histones deacetylation, H3 'Lys-9' trimethylation (H3K9me3) and restoration of silencing. 4 4q22-q23 HGNC:18398 true hsa:56916 NP_001121901.1:NM_001128429.2;NP_001121902.1:NM_001128430.1;NP_001241878.1:NM_001254949.1;NP_064544.2:NM_020159.4 Isoform 1 is expressed ubiquitously. Isoform 3 is expressed mainly in skin, fibroblasts, keratinocytes and esophagus. Binds to DNA preferentially in the vicinity of transcriptional start sites. Interacts with MSH2 and TRIM28. Part of a complex composed of TRIM28, HDAC1, HDAC2 and EHMT2. Interacts with PCNA 2020-06-12T23:07:40Z 2020-07-28T02:32:07Z 0 0 1 5514 CDBP05513 N-lysine methyltransferase SMYD2 Q9NRG4 true false Enzyme SMYD2 49687.65 6.716 Protein-lysine N-methyltransferase that methylates both histones and non-histone proteins. Specifically methylates histone H3 'Lys-4' (H3K4me) and dimethylates histone H3 'Lys-36' (H3K36me2). Has also methyltransferase activity toward non-histone proteins such as p53/TP53 and RB1. Monomethylates 'Lys-370' of p53/TP53, leading to decreased DNA-binding activity and subsequent transcriptional regulation activity of p53/TP53. Monomethylates 'Lys-860' of RB1/RB. 3RIB;3S7B;3S7D;3S7F;3S7J;3TG4;3TG5 1 1q32.3 HGNC:20982 true hsa:56950 NP_064582.2:NM_020197.2 Interacts with RNA polymerase II and HELZ. Interacts with SIN3A and HDAC1 . Interacts (via MYND-type zinc finger) with EPB41L3. Interacts (via SET domain) with p53/TP53. Interacts with RB1 and HSP90AA1 2020-06-12T23:07:40Z 2020-07-28T02:31:00Z 0 1 1 5515 CDBP05514 Spastin Q9UBP0 false false Enzyme SPAST 67196.545 9.648 ATP-dependent microtubule severing protein. Microtubule severing may promote reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. Required for membrane traffic from the endoplasmic reticulum (ER) to the Golgi and for completion of the abscission stage of cytokinesis. May also play a role in axon growth and the formation of axonal branches. 3EAB;3VFD 2 2p24-p21 HGNC:11233 true hsa:6683 NP_055761.2:NM_014946.3;NP_955468.1:NM_199436.1 Expressed in brain, heart, kidney, liver, lung, pancreas, placenta and skeletal muscle. The short isoforms may predominate in brain and spinal cord. Homohexamer. Binding to ATP stabilizes the homohexameric form. Binds to microtubules at least in part via the alpha-tubulin and beta-tubulin tails. The hexamer may adopt a ring conformation through which microtubules pass prior to being severed. Does not interact strongly with tubulin heterodimers. Interacts (via MIT domain) with CHMP1B; the interaction is direct. Interacts with ATL1, RTN1, SSNA1 and ZFYVE27. Isoform 1 but not isoform 3 interacts with RTN2. Interacts with REEP1 2020-06-12T23:07:40Z 2020-07-28T02:34:38Z 0 0 0 5516 CDBP05515 Protein phosphatase Slingshot homolog 3 Q8TE77 true false Enzyme SSH3 72995.04 5.295 Protein phosphatase which may play a role in the regulation of actin filament dynamics. Can dephosphorylate and activate the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly (By similarity). 11 11q13.2 HGNC:30581 true hsa:54961 NP_060327.3:NM_017857.3 Does not bind to, or colocalize with, filamentous actin 2020-06-12T23:07:40Z 2020-07-28T02:31:00Z 0 0 0 5517 CDBP05516 RNA polymerase II subunit A C-terminal domain phosphatase SSU72 Q9NP77 true false Enzyme SSU72 22574.305 5.32 Protein phosphatase that catalyzes the dephosphorylation of the C-terminal domain of RNA polymerase II. Plays a role in RNA processing and termination. Plays a role in pre-mRNA polyadenylation via its interaction with SYMPK. 3O2Q;3O2S;4H3H;4H3K 1 1p36.33 HGNC:25016 true hsa:29101 NP_054907.1:NM_014188.2 Interacts with RB1. Interacts with GTF2B and CD226. Interacts with SYMPK 2020-06-12T23:07:40Z 2020-07-28T02:31:00Z 0 0 0 5518 CDBP05517 Sulfotransferase 1C3 Q6IMI6 true false Enzyme SULT1C3 35888.345 6.911 Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor and has low sulphotransferase activity towards various substrates with alcohol groups (in vitro). May catalyze the sulfate conjugation of xenobiotic compounds and endogenous substrates. 2H8K;2REO 2 2q12.3 HGNC:33543 true hsa:442038 NP_001008743.1:NM_001008743.1 Not detectable in any of the tissues tested. 2020-06-12T23:07:40Z 2020-07-28T02:31:00Z 0 0 0 5519 CDBP05518 Sulfotransferase 6B1 Q6IMI4 true false Enzyme SULT6B1 Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of thyroxine. Involved in the metabolism of thyroxine (By similarity). HGNC:33433 true Specifically expressed in kidney and testis. 2020-06-12T23:07:40Z 2020-07-28T02:31:00Z 0 0 0 5520 CDBP05519 Speckle targeted PIP5K1A-regulated poly(A) polymerase Q9H6E5 true false Enzyme TUT1 98434.355 6.436 Poly(A) polymerase that creates the 3'-poly(A) tail of specific pre-mRNAs. Localizes to nuclear speckles together with PIP5K1A and mediates polyadenylation of a select set of mRNAs, such as HMOX1. In addition to polyadenylation, it is also required for the 3'-end cleavage of pre-mRNAs: binds to the 3'UTR of targeted pre-mRNAs and promotes the recruitment and assembly of the CPSF complex on the 3'UTR of pre-mRNAs. In addition to adenylyltransferase activity, also has uridylyltransferase activity. However, the ATP ratio is higher than UTP in cells, suggesting that it functions primarily as a poly(A) polymerase. Acts as a specific terminal uridylyltransferase for U6 snRNA in vitro: responsible for a controlled elongation reaction that results in the restoration of the four 3'-terminal UMP-residues found in newly transcribed U6 snRNA. Not involved in replication-dependent histone mRNA degradation. 2E5G 11 11q12.2 HGNC:26184 true hsa:64852 NP_073741.2:NM_022830.2 Widely expressed. Magnesium or manganese Associates with the cleavage and polyadenylation specificity factor (CPSF) complex. Interacts with CPSF1 and CPSF3; the interaction is direct. Interacts with PIP5K1A; interaction 2020-06-12T23:07:40Z 2020-07-28T02:31:00Z 0 1 0 5521 CDBP05520 Sugar transporter SWEET1 Q9BRV3 false true Transporter SLC50A1 19050.135 9.247 Mediates sugar transport across membranes. May stimulate V(D)J recombination by the activation of RAG1. 1 1q22 HGNC:30657 true hsa:55974 NP_001116309.1:NM_001122837.1;NP_001116311.1:NM_001122839.1;NP_061333.2:NM_018845.3 Ubiquitously expressed with highest expression in oviduct, epididymis and intestine. Interacts with TRPV2; the interaction probably occurs intracellularly and depends on TRPV2 N-glycosylation 2020-06-12T23:07:40Z 2020-07-28T02:32:16Z 0 0 0 5522 CDBP05521 General transcription factor IIF subunit 2 P13984 false false Transcription Factor GTF2F2 28380.13 9.228 TFIIF is a general transcription initiation factor that binds to RNA polymerase II and helps to recruit it to the initiation complex in collaboration with TFIIB. It promotes transcription elongation. This subunit shows ATP-dependent DNA-helicase activity. 1BBY;1F3U;2BBY 13 13q14 HGNC:4653 true hsa:2963 NP_004119.1:NM_004128.2 Heterodimer of an alpha and a beta subunit. Interacts with HTATSF1 and GPBP1 . Interacts with URI1 2020-06-12T23:07:40Z 2020-07-28T02:32:07Z 0 0 1 5523 CDBP05522 Putative ATP-dependent RNA helicase TDRD9 Q8NDG6 true false Enzyme TDRD9 155682.175 7.055 Probable ATP-binding RNA helicase which plays a central role during spermatogenesis by repressing transposable elements and prevent their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Its association with PIWIL4 and the piP-bodies suggests a participation in the secondary piRNAs metabolic process (By similarity). 14 14q32.33 HGNC:20122 true hsa:122402 NP_694591.2:NM_153046.2 Interacts with piRNA-associated proteins PIWIL1 and PIWIL4 2020-06-12T23:07:40Z 2020-07-28T02:31:00Z 0 0 0 5524 CDBP05523 Transitional endoplasmic reticulum ATPase P55072 true false Enzyme VCP 89320.885 5.267 Necessary for the fragmentation of Golgi stacks during mitosis and for their reassembly after mitosis. Involved in the formation of the transitional endoplasmic reticulum (tER). The transfer of membranes from the endoplasmic reticulum to the Golgi apparatus occurs via 50-70 nm transition vesicles which derive from part-rough, part-smooth transitional elements of the endoplasmic reticulum (tER). Vesicle budding from the tER is an ATP-dependent process. The ternary complex containing UFD1L, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1L-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope. Regulates E3 ubiquitin-protein ligase activity of RNF19A (By similarity). Component of the VCP/p97-AMFR/gp78 complex that participates in the final step of the sterol-mediated ubiquitination and endoplasmic reticulum-associated degradation (ERAD) of HMGCR. Also involved in DNA damage response: recruited to double-strand breaks (DSBs) sites in a RNF8- and RNF168-dependent manner and promotes the recruitment of TP53BP1 at DNA damage sites. Recruited to stalled replication forks by SPRTN: may act by mediating extraction of DNA polymerase eta (POLH) to prevent excessive translesion DNA synthesis and limit the incidence of mutations induced by DNA damage. 3EBB;3HU1;3HU2;3HU3;3QC8;3QQ7;3QQ8;3QWZ;3TIW 9 9p13.3 HGNC:12666 true hsa:7415 NP_009057.1:NM_007126.3 Homohexamer. Forms a ring-shaped particle of 12.5 nm diameter, that displays 6-fold radial symmetry. Part of a ternary complex containing STX5A, NSFL1C and VCP. NSFL1C forms a homotrimer that binds to one end of a VCP homohexamer. The complex binds to membranes enriched in phosphatidylethanolamine-containing lipids and promotes Golgi membrane fusion. Binds to a heterodimer of NPLOC4 and UFD1L, binding to this heterodimer inhibits Golgi-membrane fusion. Interaction with VCIP135 leads to dissociation of the complex via ATP hydrolysis by VCP. Part of a ternary complex containing NPLOC4, UFD1L and VCP. Interacts with NSFL1C-like protein p37; the complex has membrane fusion activity and is required for Golgi and endoplasmic reticulum biogenesis . Interacts with VIMP/SELS and SYVN1, as well as with DERL1, DERL2 and DERL3; which probably transfer misfolded proteins from the ER to VCP. Interacts with SVIP. Component of a complex required to couple retrotranslocation, ubiquitination and deglycosylation composed of NGLY1, SAKS1, AMFR, VCP and RAD23B. Directly interacts with UBXD2 and RNF19A. Interacts with CASR. Interacts with UBXN6, UBE4B and YOD1. Interacts with clathrin. Interacts with RNF103. Interacts with TRIM13 and TRIM21. Component of a VCP/p97-AMFR/gp78 complex that participates in the final step of the endoplasmic reticulum-associated degradation (ERAD) of HMGCR. Interacts directly with AMFR/gp78 (via its VIM). Interacts with RHBDD1 (via C-terminus domain). Interacts with METTL21D. Interacts with SPRTN; leading to recruitment to stalled replication forks 2020-06-12T23:07:40Z 2020-07-28T02:31:01Z 0 0 0 5525 CDBP05524 Methylcytosine dioxygenase TET1 Q8NFU7 true false Enzyme TET1 235306.965 8.23 Dioxygenase that catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC). Might initiate a process leading to cytosine demethylation through deamination into 5-hydroxymethyluracil (5hmU) and subsequent replacement by unmethylated cytosine by the base excision repair system. Methylation at the C5 position of cytosine bases is an epigenetic modification of the mammalian genome which plays an important role in transcriptional regulation. Preferentially binds to CpG-rich sequences at promoters of both transcriptionally active and polycomb-repressed genes. By controlling the levels of 5mC and 5hmC at gene promoters, it may regulate the gene expression silencing induced by cytosine methylation. May have a dual function by also repressing the expression of a subset of genes through recruitment of transcriptional repressors to promoters. Involved in the balance between pluripotency and lineage commitment of cells it plays a role in embryonic stem cells maintenance and inner cell mass cell specification. 10 10q21 HGNC:29484 true hsa:80312 NP_085128.2:NM_030625.2 Expressed in fetal heart, lung and brain, and in adult skeletal muscle, thymus and ovary. Not detected in adult heart, lung or brain. Fe(2+) ion Interacts with SIN3A; recruits the transcriptional co-repressor SIN3A to gene promoters 2020-06-12T23:07:40Z 2020-07-28T02:31:01Z 0 0 1 5526 CDBP05525 Methylcytosine dioxygenase TET2 Q6N021 true false Enzyme TET2 223809.995 7.98 Catalyzes the conversion of methylcytosine (5mC) to 5-hydroxymethylcytosine (hmC). Plays an important role in myelopoiesis. The clear function of 5-hydroxymethylcytosine (hmC) is still unclear but it may influence chromatin structure and recruit specific factors or may constitute an intermediate component in cytosine demethylation. 4 4q24 HGNC:25941 true hsa:54790 NP_001120680.1:NM_001127208.2;NP_060098.3:NM_017628.4 Broadly expressed. Highly expressed in hematopoietic cells; highest expression observed in granulocytes. Expression is reduced in granulocytes from peripheral blood of patients affected by myelodysplastic syndromes. Fe(2+) ion 2020-06-12T23:07:40Z 2020-07-28T02:31:01Z 0 1 0 5527 CDBP05526 Methylcytosine dioxygenase TET3 O43151 true false Enzyme TET3 179348.305 7.341 Dioxygenase that catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC) and plays a key role in epigenetic chromatin reprogramming in the zygote following fertilization. Conversion into 5hmC initiates a process leading to cytosine demethylation through deamination into 5-hydroxymethyluracil (5hmU) and subsequent replacement by unmethylated cytosine by the base excision repair system. In zygotes, DNA demethylation occurs selectively in the paternal pronucleus before the first cell division, while the adjacent maternal pronucleus and certain paternally-imprinted loci are protected from this process. Participates in DNA demethylation in the paternal pronucleus by mediating conversion of 5mC into 5hmC. Does not mediate DNA demethylation of maternal pronucleus because of the presence of DPPA3/PGC7 on maternal chromatin that prevents TET3-binding to chromatin (By similarity). 2 2p13.1 HGNC:28313 true hsa:200424 NP_659430.1:NM_144993.1 Expressed in colon, muscle, adrenal gland and peripheral blood lymphocytes. Fe(2+) ion 2020-06-12T23:07:40Z 2020-07-28T02:31:01Z 0 1 0 5528 CDBP05527 Trimethylguanosine synthase Q96RS0 true false Enzyme TGS1 96619.02 4.948 Catalyzes the 2 serial methylation steps for the conversion of the 7-monomethylguanosine (m(7)G) caps of snRNAs and snoRNAs to a 2,2,7-trimethylguanosine (m(2,2,7)G) cap structure. The enzyme is specific for guanine, and N7 methylation must precede N2 methylation. Hypermethylation of the m7G cap of U snRNAs leads to their concentration in nuclear foci, their colocalization with coilin and the formation of canonical Cajal bodies (CBs). Plays a role in transcriptional regulation. 3EGI;3GDH 8 8q11 HGNC:17843 true hsa:96764 NP_079107.6:NM_024831.6 Ubiquitously expressed. High expression in heart, skeletal muscle, kidney, liver and placenta. May form homooligomers. Interacts with CREBBP/CBP, EED/WAIT1, EP300/P300, NCOA6/PRIP, PPARBP/PBP and SMN 2020-06-12T23:07:40Z 2020-07-28T02:31:01Z 0 0 1 5529 CDBP05528 Acyl-coenzyme A thioesterase THEM4 Q5T1C6 true false Enzyme THEM4 27129.375 8.273 Has acyl-CoA thioesterase activity towards medium and long-chain (C14 to C18) fatty acyl-CoA substrates, and probably plays an role in mitochondrial fatty acid metabolism. Plays a role in the apoptotic process, possibly via its regulation of AKT1 activity. According to PubMed:11598301, inhibits AKT1 phosphorylation and activity. According to PubMed:17615157, enhances AKT1 activity by favoring its phosphorylation and translocation to plasma membrane. 4AE8;4GAH 1 1q21 HGNC:17947 true hsa:117145 NP_444283.2:NM_053055.4 Expressed predominantly in skeletal muscle, testis, uterus, brain and kidney. Down-regulated in glioblastoma or glioma compared to non-neoplastic brain due to promoter hypermethylation. Homodimer and homotetramer. Interacts with AKT1 in the cytosol 2020-06-12T23:07:40Z 2020-07-28T02:31:01Z 1 0 0 5530 CDBP05529 Probable tRNA(His) guanylyltransferase Q9NWX6 true false Enzyme THG1L 34830.605 7.994 Adds a GMP to the 5'-end of tRNA(His) after transcription and RNase P cleavage. This step is essential for proper recognition of the tRNA and for the fidelity of protein synthesis. 3OTB;3OTC;3OTD;3OTE 5 5q33.3 HGNC:26053 true hsa:54974 NP_060342.2:NM_017872.3 Expressed in many tissues. magnesium ions Homotetramer 2020-06-12T23:07:40Z 2020-07-28T02:31:01Z 0 0 0 5531 CDBP05530 Fructose-2,6-bisphosphatase TIGAR Q9NQ88 true false Enzyme TIGAR 30062.295 7.691 Fructose-bisphosphatase hydrolyzing fructose-2,6-bisphosphate as well as fructose-1,6-bisphosphate. Inhibits glycolysis by reducing cellular levels of fructose-2,6-bisphosphate. May protect cells against reactive oxygen species and against apoptosis induced by tp53. 3DCY 12 12p13.3 HGNC:1185 true hsa:57103 NP_065108.1:NM_020375.2 Monomer 2020-06-12T23:07:40Z 2020-07-28T02:31:01Z 0 0 0 5532 CDBP05531 Lysoplasmalogenase Q8N661 true false Enzyme TMEM86B 24351.695 6.637 Enzyme catalyzing the degradation of lysoplasmalogen. Lysoplasmalogens are formed by the hydrolysis of the abundant membrane glycerophospholipids plasmalogens. May control the respective levels of plasmalogens and lysoplasmalogens in cells and modulate cell membrane properties. 19 19q13.42 HGNC:28448 true hsa:255043 NP_776165.3:NM_173804.4 Homodimer (Probable) 2020-06-12T23:07:40Z 2020-07-28T02:31:01Z 0 0 0 5533 CDBP05532 Mitochondrial thiamine pyrophosphate carrier Q9HC21 false true Transporter SLC25A19 35510.895 9.56 Mitochondrial transporter mediating uptake of thiamine pyrophosphate (ThPP) into mitochondria. 17 17q25.3 HGNC:14409 true hsa:60386 NP_001119593.1:NM_001126121.1;NP_001119594.1:NM_001126122.1;NP_068380.3:NM_021734.4 Expressed in all tissues examined except for placenta. Highest levels in colon, kidney, lung, testis, spleen, and brain. 2020-06-12T23:07:40Z 2020-07-28T02:32:16Z 0 0 0 5534 CDBP05533 Protein-tyrosine sulfotransferase 1 O60507 true false Enzyme TPST1 42188.075 9.092 Catalyzes the O-sulfation of tyrosine residues within acidic motifs of polypeptides. 7 7q11.21 HGNC:12020 true hsa:8460 HS10030-MONOMER NP_003587.1:NM_003596.3 2020-06-12T23:07:40Z 2020-07-28T02:31:01Z 0 0 0 5535 CDBP05534 E3 ubiquitin/ISG15 ligase TRIM25 Q14258 true false Enzyme TRIM25 70972.785 8.096 Functions as an ubiquitin E3 ligase and as an ISG15 E3 ligase. Involved in innate immune defense against viruses by mediating ubiquitination of DDX58. Mediates 'Lys-63'-linked polyubiquitination of the DDX58 N-terminal CARD-like region which is crucial for triggering the cytosolic signal transduction that leads to the production of interferons in response to viral infection. Promotes ISGylation of 14-3-3 sigma (SFN), an adapter protein implicated in the regulation of a large spectrum signaling pathway. Mediates estrogen action in various target organs. 17 17q23.2 HGNC:12932 true hsa:7706 NP_005073.2:NM_005082.4 Ubiquitous. Interacts (via SPRY domain) with DDX58 (via CARD domain). Interacts (via coiled coil) with influenza A virus NS1 protein; this interaction specifically inhibits TRIM25 multimerization and TRIM25-mediated DDX58 CARD ubiquitination, thereby suppressing DDX58 signal transduction 2020-06-12T23:07:40Z 2020-07-28T02:31:01Z 0 1 1 5536 CDBP05535 Probable tRNA (uracil-O(2)-)-methyltransferase Q8IYL2 true false Enzyme TRMT44 84628.16 7.271 Probable adenosyl-L-methionine (AdoMet)-dependent tRNA (uracil-O(2)-)-methyltransferase (By similarity). 4 4p16.1 HGNC:26653 true hsa:152992 NP_689757.2:NM_152544.2 2020-06-12T23:07:40Z 2020-07-28T02:31:01Z 0 1 0 5537 CDBP05536 Terminal uridylyltransferase 4 Q5TAX3 true false Enzyme ZCCHC11 185251.0 7.979 Uridylyltransferase that acts as a suppressor of microRNA (miRNA) biogenesis by specifically mediating the terminal uridylation of some miRNAs. Catalyzes the 3' uridylation of precursor let-7 (pre-let-7), a miRNA precursor. Uridylated pre-let-7 miRNAs fail to be processed by Dicer and undergo degradation. Degradation of pre-let-7 contributes to the maintenance of embryonic stem (ES) cells and is required for ES cells to maintain pluripotency. Does not bind RNA by itself, recruited to pre-let-7 miRNAs via its interaction with LIN28A and LIN28B. Also catalyzes the 3' uridylation of miR-26A, a miRNA that represses IL6 transcript, leading to abrogate IL6 transcript repression and promote cytokine expression. May also suppress Toll-like receptor-induced NF-kappa-B activity via binding to T2BP. Does not play a role in replication-dependent histone mRNA degradation. 1 1p32.3 HGNC:28981 true hsa:23318 NP_001009881.1:NM_001009881.2;NP_056084.1:NM_015269.2 Magnesium or manganese Interacts with LIN28A, LIN28B and T2BP 2020-06-12T23:07:40Z 2020-07-28T02:31:01Z 0 1 1 5538 CDBP05537 Terminal uridylyltransferase 7 Q5VYS8 true false Enzyme ZCCHC6 171227.8 6.831 Uridylyltransferase that mediates the terminal uridylation of some specific RNAs. Not involved in uridylation of precursor let-7 (pre-let-7) miRNA. Does not play a role in replication-dependent histone mRNA degradation. 9 9q21 HGNC:25817 true hsa:79670 NP_001171988.1:NM_001185059.1;NP_001172003.1:NM_001185074.1;NP_078893.2:NM_024617.3 Magnesium or manganese 2020-06-12T23:07:40Z 2020-07-28T02:31:01Z 0 1 0 5539 CDBP05538 Ubiquitin-conjugating enzyme E2Q-like protein 1 A1L167 false false Enzyme UBE2QL1 18337.93 7.961 Catalyzes the covalent attachment of ubiquitin to other proteins (Potential). 5 5p15.31 HGNC:37269 true hsa:134111 NP_001138633.1:NM_001145161.2 2020-06-12T23:07:40Z 2020-07-28T02:34:38Z 0 0 0 5540 CDBP05539 U5 small nuclear ribonucleoprotein 200 kDa helicase O75643 true false Enzyme SNRNP200 244505.465 6.067 Putative RNA helicase involved in the second step of RNA splicing. May promote one or more conformational changes in the dynamic network of RNA-RNA interactions in the spliceosome. Appears to catalyze an ATP-dependent unwinding of U4/U6 RNA duplices. 2Q0Z;4F91;4F92;4F93 2 2q11.2 HGNC:30859 true hsa:23020 NP_054733.2:NM_014014.4 Widely expressed. U5 snRNP contains nine specific proteins with molecular weights of 40, 52, 100, 102, 110, 116, 200 and 220 kDa. Identified in the spliceosome C complex 2020-06-12T23:07:40Z 2020-07-28T02:31:02Z 0 0 0 5541 CDBP05540 UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 Q3KQV9 true false Enzyme UAP1L1 HGNC:28082 true hsa:91373 NP_997192.2:NM_207309.2 2020-06-12T23:07:40Z 2020-07-28T02:31:02Z 0 0 0 5542 CDBP05541 Ubiquitin-conjugating enzyme E2 G2 P60604 false false Enzyme UBE2G2 10762.16 5.158 Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-48'-linked polyubiquitination. Involved in endoplasmic reticulum-associated degradation (ERAD). 2CYX;2KLY;3H8K 21 21q22.3 HGNC:12483 true hsa:7327 NP_001189418.1:NM_001202489.1;NP_003334.2:NM_003343.5;NP_872630.1:NM_182688.2 2020-06-12T23:07:40Z 2020-07-28T02:34:38Z 0 0 0 5543 CDBP05542 Ubiquitin-conjugating enzyme E2 Q1 Q7Z7E8 false false Enzyme UBE2Q1 46126.575 5.091 Catalyzes the covalent attachment of ubiquitin to other proteins (By similarity). 2QGX 1 1q21.3 HGNC:15698 true hsa:55585 NP_060052.3:NM_017582.6 Widely expressed. 2020-06-12T23:07:40Z 2020-07-28T02:34:38Z 0 0 0 5544 CDBP05543 Ubiquitin-conjugating enzyme E2 R1 P49427 false false Enzyme CDC34 26736.515 4.537 Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-48'-linked polyubiquitination. Cooperates with the E2 UBCH5C and the SCF(FBXW11) E3 ligase complex for the polyubiquitination of NFKBIA leading to its subsequent proteasomal degradation. Performs ubiquitin chain elongation building ubiquitin chains from the UBE2D3-primed NFKBIA-linked ubiquitin. UBE2D3 acts as an initiator E2, priming the phosphorylated NFKBIA target at positions 'Lys-21' and/or 'Lys-22' with a monoubiquitin. Cooperates with the SCF(SKP2) E3 ligase complex to regulate cell proliferation through ubiquitination and degradation of MYBL2 and KIP1. Involved in ubiquitin conjugation and degradation of CREM isoform ICERIIgamma and ATF15 resulting in abrogation of ICERIIgamma- and ATF5-mediated repression of cAMP-induced transcription during both meiotic and mitotic cell cycles. Involved in the regulation of the cell cycle G2/M phase through its targeting of the WEE1 kinase for ubiquitination and degradation. Also involved in the degradation of beta-catenin. Is target of human herpes virus 1 protein ICP0, leading to ICP0-dependent dynamic interaction with proteasomes. 2OB4;3RZ3 19 19p13.3 HGNC:1734 true hsa:997 NP_004350.1:NM_004359.1 Expressed in testes during spermatogenesis to regulate repression of cAMP-induced transcription. Interacts with SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complex. When cullin is neddylated, the interaction between the E2 and the SCF complex is strengthened. When phosphorylated, interacts with beta-TrCP (BTRC). Interacts with human herpes virus 1 protein ICP0 and associates with the proteasome for degradation. Interacts with casein kinase subunit CSNK2B 2020-06-12T23:07:40Z 2020-07-28T02:34:38Z 0 0 0 5545 CDBP05544 Ubiquitin-conjugating enzyme E2 H P62256 false false Enzyme UBE2H 12859.03 4.213 Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-11'- and 'Lys-48'-linked polyubiquitination. Capable, in vitro, to ubiquitinate histone H2A. 2Z5D 7 7q32 HGNC:12484 true hsa:7328 NP_001189427.1:NM_001202498.1;NP_003335.1:NM_003344.3;NP_874356.1:NM_182697.2 2020-06-12T23:07:40Z 2020-07-28T02:34:38Z 0 0 0 5546 CDBP05545 Ubiquitin-conjugating enzyme E2 K P61086 false false Enzyme UBE2K 16618.01 6.551 Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro, in the presence or in the absence of BRCA1-BARD1 E3 ubiquitin-protein ligase complex, catalyzes the synthesis of 'Lys-48'-linked polyubiquitin chains. Does not transfer ubiquitin directly to but elongates monoubiquitinated substrate protein. Mediates the selective degradation of short-lived and abnormal proteins, such as the endoplasmic reticulum-associated degradation (ERAD) of misfolded lumenal proteins. Ubiquitinates huntingtin. May mediate foam cell formation by the suppression of apoptosis of lipid-bearing macrophages through ubiquitination and subsequence degradation of p53/TP53. Proposed to be involved in ubiquitination and proteolytic processing of NF-kappa-B; in vitro supports ubiquitination of NFKB1. In case of infection by cytomegaloviruses may be involved in the US11-dependent degradation of MHC class I heavy chains following their export from the ER to the cytosol. In case of viral infections may be involved in the HPV E7 protein-dependent degradation of RB1. 1YLA;2O25;3E46;3F92;3K9O;3K9P 4 4p14 HGNC:4914 true hsa:3093 NP_001104583.1:NM_001111113.1;NP_005330.1:NM_005339.4 Expressed in all tissues tested, including spleen, thymus, prostate, testis, ovary, small intestine, colon, peripheral blood leukocytes, T-lymphocytes, monocytes, granulocytes and bone marrow mononuclear cells. Highly expressed in brain, with highest levels found in cortex and striatum and at lower levels in cerebellum and brainstem. Interacts with RNF138/NARF. Interacts with BRCA1 2020-06-12T23:07:40Z 2020-07-28T02:34:38Z 0 0 0 5547 CDBP05546 Ubiquitin-conjugating enzyme E2 T Q9NPD8 false false Enzyme UBE2T 22520.65 7.991 Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. Catalyzes monoubiquitination. Involved in mitomycin-C (MMC)-induced DNA repair: acts as a specific E2 ubiquitin-conjugating enzyme for the Fanconi anemia complex by associating with E3 ubiquitin-protein ligase FANCL and catalyzing monoubiquitination of FANCD2, a key step in the DNA damage pathway. Also mediates monoubiquitination of FANCL and FANCI. May contribute to ubiquitination and degradation of BRCA1. In vitro able to promote polyubiquitination using all 7 ubiquitin Lys residues, but may prefer 'Lys-11'-, 'Lys-27'-, 'Lys-48'- and 'Lys-63'-linked polyubiquitination. 1YH2 1 1q32.1 HGNC:25009 true hsa:29089 NP_054895.1:NM_014176.3 Interacts with FANCL and BRCA1 2020-06-12T23:07:40Z 2020-07-28T02:34:38Z 0 0 0 5548 CDBP05547 Ubiquitin-associated and SH3 domain-containing protein B Q8TF42 false false Enzyme UBASH3B 72695.32 6.927 Interferes with CBL-mediated down-regulation and degradation of receptor-type tyrosine kinases. Promotes accumulation of activated target receptors, such as T-cell receptors and EGFR, on the cell surface. Exhibits tyrosine phosphatase activity toward several substrates including EGFR, FAK, SYK, and ZAP70. Down-regulates proteins that are dually modified by both protein tyrosine phosphorylation and ubiquitination. 2CPW;2E5K 11 11q24.1 HGNC:29884 true hsa:84959 NP_116262.2:NM_032873.4 Homodimer . Interacts with CBL. Part of a complex containing CBL and activated EGFR. Interacts with ubiquitin and with mono-ubiquitinated proteins 2020-06-12T23:07:40Z 2020-07-28T02:34:38Z 0 0 0 5549 CDBP05548 UDP-glucuronosyltransferase 3A1 Q6NUS8 true false Enzyme UGT3A1 29185.405 6.071 UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds (By similarity). 5 5p13.2 HGNC:26625 true hsa:133688 NP_001165344.1:NM_001171873.1;NP_689617.3:NM_152404.3 2020-06-12T23:07:40Z 2020-07-28T02:31:02Z 0 0 0 5550 CDBP05549 UDP-glucuronosyltransferase 3A2 Q3SY77 true false Enzyme UGT3A2 55676.76 8.154 UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds (By similarity). 5 5p13.2 HGNC:27266 true hsa:167127 NP_001161788.1:NM_001168316.1;NP_777574.2:NM_174914.3 2020-06-12T23:07:40Z 2020-07-28T02:31:02Z 0 0 0 5551 CDBP05550 Putative 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase A6NGE7 true false Enzyme PRHOXNB 19129.52 6.051 Catalyzes the stereoselective decarboxylation of 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline (OHCU) to (S)-allantoin (Potential). 13 13q12.2 HGNC:17785 true hsa:646625 NP_001099047.1:NM_001105577.1 Apparently not expressed. 2020-06-12T23:07:40Z 2020-07-28T02:31:02Z 0 0 0 5552 CDBP05551 Vesicular acetylcholine transporter Q16572 false true Transporter SLC18A3 56902.595 6.191 Involved in acetylcholine transport into synaptic vesicles. 10 10q11.2 HGNC:10936 true hsa:6572 NP_003046.2:NM_003055.2 Peripheral and central cholinergic nervous systems. 2020-06-12T23:07:40Z 2020-07-28T02:32:16Z 0 0 0 5553 CDBP05552 Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1 Q6PFW1 true false Enzyme PPIP5K1 159519.82 5.399 Bifunctional inositol kinase that catalyzes the formation of diphosphoinositol pentakisphosphate (InsP7 or PP-InsP5) and bi-diphosphoinositol tetrakisphosphate (InsP8 or PP2-InsP4). Converts inositolitol hexakisphosphate (InsP6) to InsP7. Also able to convert InsP7 to InsP8. Probably specifically mediates the formation of 4PP-InsP5 and 6PP-InsP5 InsP7 isomers but not of 5PP-IP5 InsP7 isomer. Activated when cells are exposed to hyperosmotic stress. 15 15q15.3 HGNC:29023 true hsa:9677 HS09822-MONOMER NP_001124330.1:NM_001130858.2;NP_001124331.1:NM_001130859.2;NP_001177143.1:NM_001190214.1;NP_055474.3:NM_014659.5 Widely expressed, with a higher expression in skeletal muscle, heart and brain. 2020-06-12T23:07:41Z 2020-07-28T02:31:02Z 0 0 0 5554 CDBP05553 Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 O43314 true false Enzyme PPIP5K2 138104.925 8.056 Bifunctional inositol kinase that catalyzes the formation of diphosphoinositol pentakisphosphate (InsP7 or PP-InsP5) and bi-diphosphoinositol tetrakisphosphate (InsP8 or PP2-InsP4). Converts inositolitol hexakisphosphate (InsP6) to InsP7. Also able to convert InsP7 to InsP8. Probably specifically mediates the formation of 4PP-InsP5 and 6PP-InsP5 InsP7 isomers but not of 5PP-IP5 InsP7 isomer. 3T54;3T7A;3T99;3T9A;3T9B;3T9C;3T9D;3T9E;3T9F;4HN2 5 5q21.1 HGNC:29035 true hsa:23262 NP_056031.2:NM_015216.2 2020-06-12T23:07:41Z 2020-07-28T02:31:02Z 0 0 0 5555 CDBP05554 Vascular non-inflammatory molecule 2 O95498 false false Enzyme VNN2 33256.93 6.121 Amidohydrolase that hydrolyzes specifically one of the carboamide linkages in D-pantetheine thus recycling pantothenic acid (vitamin B5) and releasing cysteamine. Involved in the thymus homing of bone marrow cells. May regulate beta-2 integrin-mediated cell adhesion, migration and motility of neutrophil. 6 6q23-q24 HGNC:12706 true hsa:8875 NP_001229279.1:NM_001242350.1;NP_004656.2:NM_004665.2;NP_511043.1:NM_078488.1 Widely expressed with higher expression in spleen and blood. 2020-06-12T23:07:41Z 2020-07-28T02:34:38Z 0 0 0 5556 CDBP05555 Vascular non-inflammatory molecule 3 Q9NY84 false false Enzyme VNN3 Amidohydrolase that hydrolyzes specifically one of the carboamide linkages in D-pantetheine thus recycling pantothenic acid (vitamin B5) and releasing cysteamine. HGNC:16431 true Widely expressed with higher expression in liver and blood. Expressed in differentiated keratinocytes in epidermis and in epithelial cells in dermis. Overexpressed in lesional psoriatic skin. 2020-06-12T23:07:41Z 2020-07-28T02:34:38Z 0 0 0 5557 CDBP05556 Vacuolar protein sorting-associated protein 29 Q9UBQ0 false false Metal Binding VPS29 20505.595 6.791 Essential component of the retromer complex, a complex required to retrieve lysosomal enzyme receptors (IGF2R and M6PR) from endosomes to the trans-Golgi network. Also required to regulate transcytosis of the polymeric immunoglobulin receptor (pIgR-pIgA). Has low protein phosphatase activity towards a serine-phosphorylated peptide derived from IGF2R (in vitro). 1W24;2R17 12 12q24 HGNC:14340 true hsa:51699 NP_057310.1:NM_016226.3;NP_476528.1:NM_057180.1 Ubiquitous. Highly expressed in heart, lung, placenta, spleen, peripheral blood leukocytes, thymus, colon skeletal muscle, kidney and brain. zinc ions Component of the retromer complex composed of VPS26 (VPS26A or VPS26B), VPS29, VPS35, SNX1 and SNX2. Found in a complex with XPO7, EIF4A1, ARHGAP1, VPS26A, VPS29, VPS35 and SFN 2020-06-12T23:07:41Z 2020-07-28T02:32:06Z 0 1 0 5558 CDBP05557 Vacuolar protein sorting-associated protein 4A Q9UN37 false false Enzyme VPS4A 48897.45 7.794 Involved in late steps of the endosomal multivesicular bodies (MVB) pathway. Recognizes membrane-associated ESCRT-III assemblies and catalyzes their disassembly, possibly in combination with membrane fission. Redistributes the ESCRT-III components to the cytoplasm for further rounds of MVB sorting. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. In conjunction with the ESCRT machinery also appears to function in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and enveloped virus budding (HIV-1 and other lentiviruses). Involved in cytokinesis. 1YXR;2JQ9;2K3W 16 16q22.1 HGNC:13488 true hsa:27183 NP_037377.1:NM_013245.2 Ubiquitously expressed. Proposed to be monomeric or homodimeric in nucleotide-free form and to oligomerize upon binding to ATP to form two stacked hexameric or heptameric rings with a central pore through which ESCRT-III substrates are translocated in an ATP-dependent manner . Interacts with CHMP1A, CHMP1B, CHMP2A, CHMP2B, CHMP3, CHMP4A, CHMP4B, CHMP4C and CHMP6. Interacts with VPS4B; the interaction suggests a heteromeric assembly with VPS4B. Interacts with SPAST. Interacts with IST1 2020-06-12T23:07:41Z 2020-07-28T02:34:39Z 0 0 0 5559 CDBP05558 Vacuolar protein sorting-associated protein 4B O75351 false false Enzyme VPS4B 49301.635 7.22 Involved in late steps of the endosomal multivesicular bodies (MVB) pathway. Recognizes membrane-associated ESCRT-III assemblies and catalyzes their disassembly, possibly in combination with membrane fission. Redistributes the ESCRT-III components to the cytoplasm for further rounds of MVB sorting. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. In conjunction with the ESCRT machinery also appears to function in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and enveloped virus budding (HIV-1 and other lentiviruses). 1WR0;1XWI;2CPT;2JQH;2JQK 18 18q21.33 HGNC:10895 true hsa:9525 NP_004860.2:NM_004869.3 Ubiquitously expressed. Proposed to be monomeric or homodimeric in nucleotide-free form and to oligomerize upon binding to ATP to form two stacked hexameric or heptameric rings with a central pore through which ESCRT-III substrates are translocated in an ATP-dependent manner. In vitro, associates on the inside of a helical tubular structure formed by a CHMP2A-CHMP3 polymer. Interacts with CHMP1A, CHMP1B, CHMP2A, CHMP4B and CHMP6. Interacts with VPS4A; the interaction suggests a heteromeric assembly with VPS4A. Interacts with VTA1 2020-06-12T23:07:41Z 2020-07-28T02:34:39Z 0 0 0 5560 CDBP05559 Uncharacterized methyltransferase WBSCR22 O43709 true false Enzyme WBSCR22 Methyltransferase that may act on DNA. HGNC:16405 true hsa:114049 NP_001189489.1:NM_001202560.2;NP_059998.2:NM_017528.4 Strongly expressed in heart, skeletal muscle and kidney. Also expressed in spleen, liver, lung and testis. 2020-06-12T23:07:41Z 2020-07-28T02:31:02Z 0 0 0 5561 CDBP05560 Xyloside xylosyltransferase 1 Q8NBI6 true false Enzyme XXYLT1 43806.33 8.134 Alpha-1,3-xylosyltransferase, which elongates the O-linked xylose-glucose disaccharide attached to EGF-like repeats in the extracellular domain of Notch proteins by catalyzing the addition of the second xylose. 3 3q29 HGNC:26639 true hsa:152002 NP_689744.3:NM_152531.4 Monomer. Homodimer. Dimer formation may be essential for the retention in endoplasmic reticulum 2020-06-12T23:07:41Z 2020-07-28T02:31:02Z 0 0 0 5562 CDBP05561 Glycosaminoglycan xylosylkinase O75063 true false Enzyme FAM20B 46432.04 6.88 Responsible for the 2-O-phosphorylation of xylose in the glycosaminoglycan-protein linkage region of proteoglycans thereby regulating the amount of mature GAG chains. Sulfated glycosaminoglycans (GAGs), including heparan sulfate and chondroitin sulfate, are synthesized on the so-called common GAG-protein linkage region (GlcUAbeta1-3Galbeta1-3Galbeta1-4Xylbeta1-O-Ser) of core proteins, which is formed by the stepwise addition of monosaccharide residues by the respective specific glycosyltransferases. Xylose 2-o-phosphorylation may influence the catalytic activity of B3GAT3 (GlcAT-I) which completes the precursor tetrasaccharide of GAG-protein linkage regions on which the repeating disaccharide region is synthesized. 1 1q25 HGNC:23017 true hsa:9917 NP_055679.1:NM_014864.3 Widely expressed. 2020-06-12T23:07:41Z 2020-07-28T02:31:02Z 0 0 0 5563 CDBP05562 Probable ATP-dependent RNA helicase YTHDC2 Q9H6S0 true false Enzyme YTHDC2 160246.935 8.395 2YU6 5 5q22.2 HGNC:24721 true hsa:64848 NP_073739.3:NM_022828.3 2020-06-12T23:07:41Z 2020-07-28T02:31:02Z 0 0 0 5564 CDBP05563 Probable palmitoyltransferase ZDHHC11 Q9H8X9 true false Enzyme ZDHHC11 45974.965 8.312 5 5p15.33 HGNC:19158 true hsa:79844 NP_079062.1:NM_024786.2 2020-06-12T23:07:41Z 2020-07-28T02:31:02Z 0 1 0 5565 CDBP05564 Probable palmitoyltransferase ZDHHC12 Q96GR4 true false Enzyme ZDHHC12 30797.68 7.2 9 9q34.11 HGNC:19159 true hsa:84885 NP_116188.2:NM_032799.4 2020-06-12T23:07:41Z 2020-07-28T02:31:03Z 0 1 0 5566 CDBP05565 Palmitoyltransferase ZDHHC13 Q8IUH4 true true Enzyme ZDHHC13 56508.075 8.433 Palmitoyltransferase for HD and GAD2 (By similarity). Mediates Mg(2+) transport (By similarity). 11 11p15.1 HGNC:18413 true hsa:54503 NP_001001483.1:NM_001001483.2;NP_061901.2:NM_019028.2 2020-06-12T23:07:41Z 2020-07-28T02:31:03Z 0 1 0 5567 CDBP05566 Probable palmitoyltransferase ZDHHC14 Q8IZN3 true false Enzyme ZDHHC14 53387.945 8.239 6 6q25.3 HGNC:20341 true hsa:79683 NP_078906.2:NM_024630.2;NP_714968.1:NM_153746.1 2020-06-12T23:07:41Z 2020-07-28T02:31:03Z 0 1 0 5568 CDBP05567 Palmitoyltransferase ZDHHC15 Q96MV8 true false Enzyme ZDHHC15 38405.425 8.098 Palmitoyltransferase specific for GAP43 and DLG4/PSD95 (By similarity). X Xq13.3 HGNC:20342 true hsa:158866 NP_001139728.1:NM_001146256.1;NP_001139729.1:NM_001146257.1;NP_659406.1:NM_144969.2 Expressed in placenta, liver, lung, kidney, heart and brain. 2020-06-12T23:07:41Z 2020-07-28T02:31:03Z 0 1 0 5569 CDBP05568 Probable palmitoyltransferase ZDHHC16 Q969W1 true false Enzyme ZDHHC16 43632.89 9.626 May be involved in apoptosis regulation (By similarity). 10 10q24.1 HGNC:20714 true hsa:84287 NP_115703.2:NM_032327.2;NP_932160.1:NM_198043.1;NP_932161.1:NM_198044.1;NP_932162.1:NM_198045.1;NP_932163.1:NM_198046.1 Interacts with ABL1 2020-06-12T23:07:41Z 2020-07-28T02:31:03Z 0 1 0 5570 CDBP05569 Palmitoyltransferase ZDHHC17 Q8IUH5 true true Enzyme ZDHHC17 72639.345 7.497 Palmitoyltransferase specific for a subset of neuronal proteins, including SNAP25, DLG4/PSD95, GAD2, SYT1 and HD. Palmitoylates MPP1 in erythrocytes. May be involved in the sorting or targeting of critical proteins involved in the initiating events of endocytosis at the plasma membrane. Has transforming activity. Mediates Mg(2+) transport. 3EU9 12 12q21.2 HGNC:18412 true hsa:23390 NP_056151.2:NM_015336.2 Expressed in all brain regions. Expression is highest in the cortex, cerebellum, occipital lobe and caudate and lowest in the spinal cord. Expression is also seen in testis, pancreas, heart and kidney. ZDHHC17 is the only palmitoyltransferase in erythrocytes. Interacts (via ANK repeats) with HD. This interaction is inversely correlated to the length of the polyglutamine tract added to the huntingtin protein in Huntington disease 2020-06-12T23:07:41Z 2020-07-28T02:31:03Z 0 1 0 5571 CDBP05570 Palmitoyltransferase ZDHHC18 Q9NUE0 true false Enzyme ZDHHC18 42030.225 9.043 Has palmitoyltransferase activity towards HRAS and LCK (By similarity). 1 1p36.11 HGNC:20712 true hsa:84243 NP_115659.1:NM_032283.2 2020-06-12T23:07:41Z 2020-07-28T02:31:03Z 0 1 0 5572 CDBP05571 Probable palmitoyltransferase ZDHHC19 Q8WVZ1 true false Enzyme ZDHHC19 34351.95 8.17 3 3q29 HGNC:20713 true hsa:131540 NP_001034706.1:NM_001039617.1 2020-06-12T23:07:41Z 2020-07-28T02:31:03Z 0 1 0 5573 CDBP05572 Probable palmitoyltransferase ZDHHC20 Q5W0Z9 true false Enzyme ZDHHC20 41096.015 7.863 13 13q12.11 HGNC:20749 true hsa:253832 NP_694983.2:NM_153251.3 2020-06-12T23:07:41Z 2020-07-28T02:31:03Z 0 1 0 5574 CDBP05573 Palmitoyltransferase ZDHHC21 Q8IVQ6 true false Enzyme ZDHHC21 31384.94 8.434 Palmitoylates sex steroid hormone receptors, including ESR1, PGR and AR, thereby regulating their targeting to the plasma membrane. This affects rapid intracellular signaling by sex hormones via ERK and AKT kinases and the generation of cAMP, but does not affect that mediated by their nuclear receptor (By similarity). 9 9p22.3 HGNC:20750 true hsa:340481 NP_848661.1:NM_178566.4 2020-06-12T23:07:41Z 2020-07-28T02:31:03Z 0 1 0 5575 CDBP05574 Putative palmitoyltransferase ZDHHC22 Q8N966 true false Enzyme ZDHHC22 29099.21 9.255 14 14q24.3 HGNC:20106 true hsa:283576 NP_777636.2:NM_174976.2 2020-06-12T23:07:41Z 2020-07-28T02:31:03Z 0 1 0 5576 CDBP05575 Probable palmitoyltransferase ZDHHC23 Q8IYP9 true false Enzyme ZDHHC23 45982.48 8.631 May be involved in NOS1 regulation and targeting to the synaptic membrane (By similarity). 3 3q13.31 HGNC:28654 true hsa:254887 NP_775841.2:NM_173570.3 Interacts with NOS1 2020-06-12T23:07:41Z 2020-07-28T02:31:03Z 0 1 0 5577 CDBP05576 Probable palmitoyltransferase ZDHHC24 Q6UX98 true false Enzyme ZDHHC24 30175.315 8.594 11 11q13.2 HGNC:27387 true hsa:254359 NP_997223.1:NM_207340.1 2020-06-12T23:07:41Z 2020-07-28T02:31:03Z 0 1 0 5578 CDBP05577 Probable palmitoyltransferase ZDHHC1 Q8WTX9 true false Enzyme ZDHHC1 54817.74 10.322 16 16q22.1 HGNC:17916 true hsa:29800 NP_037436.1:NM_013304.2 Expressed at high levels in fetal lung, kidney and heart. Expressed at lower levels in adult pancreas and lung. 2020-06-12T23:07:41Z 2020-07-28T02:31:03Z 0 1 0 5579 CDBP05578 Palmitoyltransferase ZDHHC2 Q9UIJ5 true false Enzyme ZDHHC2 42021.2 8.357 Palmitoyltransferase specific for GAP43 and DLG4/PSD95 (By similarity). 8 8p22 HGNC:18469 true hsa:51201 NP_057437.1:NM_016353.4 Ubiquitously expressed. Reduced expression in colorectal cancers with liver metastasis. 2020-06-12T23:07:41Z 2020-07-28T02:31:03Z 0 1 0 5580 CDBP05579 Palmitoyltransferase ZDHHC3 Q9NYG2 true false Enzyme ZDHHC3 34170.15 8.183 Palmitoyltransferase with broad specificity. Palmitoylates GABA receptors on their gamma subunit (GABRG1, GABRG2 and GABRG3), which regulates synaptic clustering and/or cell surface stability. Palmitoylates glutamate receptors GRIA1 and GRIA2, which leads to their retention in Golgi (By similarity). 3 3p21.31 HGNC:18470 true hsa:51304 NP_001128651.1:NM_001135179.1;NP_057682.1:NM_016598.2 2020-06-12T23:07:41Z 2020-07-28T02:31:03Z 0 1 0 5581 CDBP05580 Probable palmitoyltransferase ZDHHC4 Q9NPG8 true false Enzyme ZDHHC4 39786.495 7.361 7 7p22.1 HGNC:18471 true hsa:55146 NP_001127859.1:NM_001134387.1;NP_001127860.1:NM_001134388.1;NP_001127861.1:NM_001134389.1;NP_060576.1:NM_018106.3 2020-06-12T23:07:41Z 2020-07-28T02:31:03Z 0 1 0 5582 CDBP05581 Palmitoyltransferase ZDHHC5 Q9C0B5 true false Enzyme ZDHHC5 77543.97 9.007 Palmitoyl acyltransferase for the G-protein coupled receptor SSTR5. Also palmitoylates FLOT2 (By similarity). 11 11q12.1 HGNC:18472 true hsa:25921 NP_056272.2:NM_015457.2 2020-06-12T23:07:41Z 2020-07-28T02:31:03Z 0 1 0 5583 CDBP05582 Palmitoyltransferase ZDHHC6 Q9H6R6 true false Enzyme ZDHHC6 47662.39 8.469 Palmitoylates calnexin (CALX), which is required for its association with the ribosome-translocon complex and efficient folding of glycosylated proteins. 10 10q25.2 HGNC:19160 true hsa:64429 NP_071939.1:NM_022494.1 2020-06-12T23:07:41Z 2020-07-28T02:31:03Z 0 1 0 5584 CDBP05583 Palmitoyltransferase ZDHHC7 Q9NXF8 true false Enzyme ZDHHC7 38916.99 7.621 Palmitoyltransferase with broad specificity. Palmitoylates SNAP25 and DLG4/PSD95. May palmitoylate GABA receptors on their gamma subunit (GABRG1, GABRG2 and GABRG3) and thereby regulate their synaptic clustering and/or cell surface stability (By similarity). Palmitoylates sex steroid hormone receptors, including ESR1, PGR and AR, thereby regulating their targeting to the plasma membrane. This affects rapid intracellular signaling by sex hormones via ERK and AKT kinases and the generation of cAMP, but does not affect that mediated by their nuclear receptors. 16 16q24.1 HGNC:18459 true hsa:55625 NP_001139020.1:NM_001145548.1;NP_060210.2:NM_017740.2 2020-06-12T23:07:41Z 2020-07-28T02:31:03Z 0 1 0 5585 CDBP05584 Probable palmitoyltransferase ZDHHC8 Q9ULC8 true false Enzyme ZDHHC8 83171.835 9.248 Palmitoyltransferase involved in glutamatergic transmission. Mediates palmitoylation of ABCA1. 22 22q11.21 HGNC:18474 true hsa:29801 NP_001171953.1:NM_001185024.1;NP_037505.1:NM_013373.3 2020-06-12T23:07:41Z 2020-07-28T02:31:03Z 0 1 0 5586 CDBP05585 Palmitoyltransferase ZDHHC9 Q9Y397 true false Enzyme ZDHHC9 40915.225 7.838 The ZDHHC9-GOLGA7 complex is a palmitoyltransferase specific for HRAS and NRAS. X Xq26.1 HGNC:18475 true hsa:51114 NP_001008223.1:NM_001008222.2;NP_057116.2:NM_016032.3 Highly expressed in kidney, skeletal muscle, brain, lung and liver. Absent in thymus, spleen and leukocytes. Interacts with GOLGA7 2020-06-12T23:07:41Z 2020-07-28T02:31:03Z 0 1 0 5587 CDBP05586 Probable palmitoyltransferase ZDHHC11B P0C7U3 true false Enzyme ZDHHC11B HGNC:32962 true 2020-06-12T23:07:41Z 2020-07-28T02:31:03Z 0 1 0 5588 CDBP05587 Zinc transporter 10 Q6XR72 false true Transporter SLC30A10 52683.46 6.724 May be involved in zinc transport out of the cell, being a zinc-efflux transporter (By similarity). 1 1q41 HGNC:25355 true hsa:55532 NP_061183.2:NM_018713.2 Specifically expressed in fetal liver and fetal brain. 2020-06-12T23:07:41Z 2020-07-28T02:32:16Z 0 0 0 5589 CDBP05588 Zinc transporter 1 Q9Y6M5 false true Transporter SLC30A1 55299.41 6.478 May be involved in zinc transport out of the cell. 1 1q32.3 HGNC:11012 true hsa:7779 NP_067017.2:NM_021194.2 Multimer (Probable) 2020-06-12T23:07:41Z 2020-07-28T02:32:16Z 0 0 0 5590 CDBP05589 Zinc transporter 2 Q9BRI3 false true Transporter SLC30A2 40563.575 6.374 1 1p35.3 HGNC:11013 true hsa:7780 NP_001004434.1:NM_001004434.1;NP_115902.1:NM_032513.3 2020-06-12T23:07:41Z 2020-07-28T02:32:16Z 0 0 0 5591 CDBP05590 Zinc transporter 3 Q99726 false false Enzyme SLC30A3 41944.895 6.468 Involved in accumulation of zinc in synaptic vesicles (By similarity). 2 2p23.3 HGNC:11014 true hsa:7781 NP_003450.2:NM_003459.4 2020-06-12T23:07:41Z 2020-07-28T02:34:39Z 0 0 0 5592 CDBP05591 Zinc transporter 4 O14863 false true Transporter SLC30A4 47482.24 6.587 Probably involved in zinc transport out of the cytoplasm, maybe by sequestration into an intracellular compartment. 15 15q21.1 HGNC:11015 true hsa:7782 NP_037441.2:NM_013309.4 2020-06-12T23:07:41Z 2020-07-28T02:32:16Z 0 0 0 5593 CDBP05592 Zinc transporter 6 Q6NXT4 false true Transporter SLC30A6 55794.35 9.063 Zinc-efflux transporter which allocates the cytoplasmic zinc to the trans-Golgi network (TGN) as well as the vesicular compartment (By similarity). 2 2p22.3 HGNC:19305 true hsa:55676 NP_001180442.1:NM_001193513.1;NP_001180443.1:NM_001193514.1;NP_001180444.1:NM_001193515.1;NP_060434.2:NM_017964.3 Expressed in brain; especially in cerebellum, hippocampus, parahippocampal gyrus, superior and middle temporal gyrus. Also expressed in B-cells, colon, eye, and lung. Lower expression was present in bone, brain, cervix, ear, heart, kidney, muscle, nerve, pancreas, prostate, skin, stomach, and testis. Heterooligomer. Interacts with ZNT5 2020-06-12T23:07:41Z 2020-07-28T02:32:16Z 0 0 0 5594 CDBP05593 Zinc transporter 7 Q8NEW0 false true Transporter SLC30A7 41625.605 6.941 Seems to facilitate zinc transport from the cytoplasm into the Golgi apparatus. Partly regulates cellular zinc homeostasis. Required with ZNT5 for the activation of zinc-requiring enzymes, alkaline phosphatases (ALPs). Transports zinc into the lumens of the Golgi apparatus and the vesicular compartments where ALPs locate, thus, converting apoALPs to holoALPs. Required with ZNT5 and ZNT6 for the activation of TNAP (By similarity). 1 1p21.2 HGNC:19306 true hsa:148867 NP_001138356.1:NM_001144884.1;NP_598003.2:NM_133496.4 Homooligomer 2020-06-12T23:07:41Z 2020-07-28T02:32:16Z 0 0 0 5595 CDBP05594 Zinc transporter 8 Q8IWU4 false true Transporter SLC30A8 35052.755 6.96 Facilitates the accumulation of zinc from the cytoplasm into intracellular vesicles, being a zinc-efflux transporter. May be a major component for providing zinc to insulin maturation and/or storage processes in insulin-secreting pancreatic beta-cells. 8 8q24.11 HGNC:20303 true hsa:169026 NP_001166282.1:NM_001172811.1;NP_001166284.1:NM_001172813.1;NP_001166285.1:NM_001172814.1;NP_001166286.1:NM_001172815.1;NP_776250.2:NM_173851.2 In the endocrine pancreas, expressed in insulin-producing beta cells. Expressed at relatively high levels in subcutaneous fat tissue from lean persons; much lower levels in visceral fat, whether from lean or obese individuals, and in subcutaneous fat tissue from obese individuals. Expressed in peripheral blood mononuclear cells, including T-cells and B-cells, with great variation among individuals ranging from negative to strongly positive. Homodimer 2020-06-12T23:07:41Z 2020-07-28T02:32:16Z 0 0 0 5596 CDBP05595 Zinc transporter 9 Q6PML9 false true Enzyme SLC30A9 63514.525 8.33 Plays a role in the p160 coactivator signaling pathway that mediates transcriptional activation by nuclear receptors (By similarity). Plays a role in transcriptional activation of Wnt-responsive genes (By similarity). 2ENK 4 4p13 HGNC:1329 true hsa:10463 NP_006336.3:NM_006345.3 Ubiquitously expressed in fetal and adult tissues and cancer cell lines. Interacts with GRIP1, ESR1 and AR 2020-06-12T23:07:41Z 2020-07-28T02:34:39Z 0 0 1 5597 CDBP05596 Neuronal acetylcholine receptor subunit beta-2 P17787 ACHB2_HUMAN false false Receptor Homo sapiens CHRNB2 502 57020.0 6.77 Involved in neurotransmitter receptor activity After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane ["1-25"] ["234-258", "266-284", "300-321", "459-478"] 2GVT;2K58;2K59;2KSR;2LM2;5KXI;6CNJ;6CNK X53179 32017 CHRNB2 1q21.3 CHRNB2 HGNC:1962 true NP_000739.1:NM_000748.2 Cell junction; Synapse; Postsynaptic cell membrane; Cell membrane 2020-06-12T23:07:41Z 2020-07-28T02:31:04Z 1 0 0 5598 CDBP05597 Neuronal acetylcholine receptor subunit alpha-5 P30532 ACHA5_HUMAN false false Receptor Homo sapiens CHRNA5 468 53054.0 6.98 Involved in acetylcholine receptor activity After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane ["255-275↵282-302↵317-337↵430-451"] M83712 177926 CHRNA5 15q24 GNC:1959 true Cell junction, synapse, postsynaptic cell membrane 2020-06-12T23:07:41Z 2020-07-28T02:31:04Z 1 0 0 5599 CDBP05598 Neuronal acetylcholine receptor subunit beta-4 P30926 ACHB4_HUMAN false false Receptor Homo sapiens CHRNB4 498 56379.0 8.45 Involved in acetylcholine receptor activity After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane ["237-257↵266-286↵299-319↵461-481"] U62439 1458126 CHRNB4 15q24 GNC:1964 true Cell junction, synapse, postsynaptic cell membrane 2020-06-12T23:07:41Z 2020-07-28T02:31:04Z 1 0 0 5600 CDBP05599 Neuronal acetylcholine receptor subunit alpha-3 P32297 ACHA3_HUMAN false false Receptor Homo sapiens CHRNA3 505 57479.5 6.4 Involved in acetylcholine receptor activity After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane ["241-265↵273-291↵307-328↵478-497"] M86383 177898 CHRNA3 15q24 GNC:1957 true Cell junction, synapse, postsynaptic cell membrane 2020-06-12T23:07:41Z 2020-07-28T02:31:04Z 1 0 0 5601 CDBP05600 Neuronal acetylcholine receptor subunit alpha-7 P36544 ACHA7_HUMAN false false Receptor Homo sapiens CHRNA7 502 56450.0 6.44 Involved in acetylcholine receptor activity After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane ["231-255↵262-280↵296-317↵470-490"] X70297 496607 CHRNA7 15q14 CHRNA7 HGNC:1960 true Membrane 2020-06-12T23:07:42Z 2020-07-28T02:31:04Z 1 0 0 5602 CDBP05601 Glutamate receptor 3 P42263 GRIA3_HUMAN false false Receptor Homo sapiens GRIA3 894 101158.0 8.74 Involved in ionotropic glutamate receptor activity Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of GLU are mediated by a variety of receptors that are named according to their selective agonists ["553-573↵603-623↵636-656↵824-844"] U10302 507829 GRIA3 Xq25-q26 GRIA3 HGNC:4573 true Membrane; multi-pass membrane protein 2020-06-12T23:07:42Z 2020-07-28T02:31:04Z 1 0 0 5603 CDBP05602 Neuronal acetylcholine receptor subunit alpha-4 P43681 ACHA4_HUMAN false false Receptor Homo sapiens CHRNA4 627 69958.0 7.21 Involved in neurotransmitter receptor activity After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane ["243-267↵275-293↵309-330↵601-619"] L35901 755648 CHRNA4 20q13.2-q13.3 CHRNA4 HGNC:1958 true Membrane; multi-pass membrane protein 2020-06-12T23:07:42Z 2020-07-28T02:31:04Z 1 0 0 5604 CDBP05603 Glutamate receptor 4 P48058 GRIA4_HUMAN false false Receptor Homo sapiens GRIA4 902 100811.0 8.32 Amino acid transport and metabolism L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists ["547-566↵593-611↵622-640↵814-834"] U16129 790538 GRIA4 11q22 GRIA4 HGNC:4574 true Membrane; multi-pass membrane protein 2020-06-12T23:07:42Z 2020-07-28T02:31:04Z 1 0 0 5605 CDBP05604 Neuronal acetylcholine receptor subunit beta-3 Q05901 ACHB3_HUMAN false false Receptor Homo sapiens CHRNB3 458 52728.2 8.29 Involved in neurotransmitter receptor activity After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane ["233-257↵265-282↵299-320↵429-447"] U62438 1458124 CHRNB3 8p11.2 GNC:1963 true Cell junction, synapse, postsynaptic cell membrane 2020-06-12T23:07:42Z 2020-07-28T02:31:04Z 1 0 0 5606 CDBP05605 Neuronal acetylcholine receptor subunit alpha-6 Q15825 ACHA6_HUMAN false false Receptor Homo sapiens CHRNA6 494 56897.7 6.6 Involved in acetylcholine receptor activity After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane ["240-264↵272-290↵306-327↵466-484"] U62435 1458118 CHRNA6 8p11.21 GNC:15963 true Cell junction, synapse, postsynaptic cell membrane 2020-06-12T23:07:42Z 2020-07-28T02:31:04Z 1 0 0 5607 CDBP05606 5-hydroxytryptamine receptor 3D Q70Z44 5HT3D_HUMAN false false Receptor Homo sapiens HTR3D 454 50190.625 Involved in transmembrane transport This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand-gated ion channel, which when activated causes fast, depolarizing responses. It is a cation-specific, but otherwise relatively nonselective, ion channel. true 2020-06-12T23:07:42Z 2020-07-28T02:31:04Z 1 0 0 5608 CDBP05607 5-hydroxytryptamine receptor 3C Q8WXA8 5HT3C_HUMAN false false Receptor Homo sapiens HTR3C 447 50219.07 Involved in transmembrane transport This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand-gated ion channel, which when activated causes fast, depolarizing responses. It is a cation-specific, but otherwise relatively nonselective, ion channel. true 2020-06-12T23:07:42Z 2020-07-28T02:31:04Z 1 0 0 5609 CDBP05608 5-Hydroxytryptamine receptor 3E A5X5Y0 5HT3E_HUMAN false false Receptor Homo sapiens HTR3E 456 true 2020-06-12T23:07:42Z 2020-07-28T02:31:04Z 1 0 0 5610 CDBP05609 Sulfotransferase 1A3 P0DMM9 ST1A3_HUMAN true false Enzyme Homo_sapiens SULT1A3 34195.96 sulfotransferase activity Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of phenolic monoamines (neurotransmitters such as dopamine, norepinephrine and serotonin) and phenolic and catechol drugs. ["[]"] ["[]"] ["1CJM", "2A3R"] HGNC:11455 true hsa:6818 Homodimer 2.8.2.1 2020-06-12T23:07:42Z 2020-06-12T23:07:42Z 0 0 0 5611 CDBP05610 ER degradation-enhancing alpha-mannosidase-like protein 1 Q92611 EDEM1_HUMAN false false Enzyme Homo_sapiens EDEM1 657 73767.5 misfolded protein binding Extracts misfolded glycoproteins, but not glycoproteins undergoing productive folding, from the calnexin cycle. It is directly involved in endoplasmic reticulum-associated degradation (ERAD) and targets misfolded glycoproteins for degradation in an N-glycan-independent manner, probably by forming a complex with SEL1L. It has low mannosidase activity, catalyzing mannose trimming from Man8GlcNAc2 to Man7GlcNAc2. ["5-25"] 3 3p26.1 HGNC:18967 true hsa:9695 NP_055489.1:NM_014674.2 Interacts with DNAJC10 . Interacts with DERL2 and DERL3. Binds to SEL1L Endoplasmic reticulum membrane 2020-07-07T21:30:21Z 2020-07-28T02:34:39Z 0 0 0 5612 CDBP05611 Growth-regulated alpha protein P09341 GROA_HUMAN false false Receptor Homo_sapiens CXCL1 107 11301.27 signaling receptor binding Has chemotactic activity for neutrophils. May play a role in inflammation and exerts its effects on endothelial cells in an autocrine fashion. In vitro, the processed forms GRO-alpha(4-73), GRO-alpha(5-73) and GRO-alpha(6-73) show a 30-fold higher chemotactic activity. ["1-34"] 1MGS;1MSG;1MSH;1ROD 4 4q13.3 HGNC:4602 true hsa:2919 NP_001502.1:NM_001511.3 Secreted 2020-07-07T21:30:21Z 2020-07-28T02:32:22Z 1 0 0 5613 CDBP05612 ER degradation-enhancing alpha-mannosidase-like protein 3 Q9BZQ6 EDEM3_HUMAN false false Enzyme Homo_sapiens EDEM3 948 104662.925 mannosyl-oligosaccharide 1,2-alpha-mannosidase activity Involved in endoplasmic reticulum-associated degradation (ERAD). Accelerates the glycoprotein ERAD by proteasomes, by catalyzing mannose trimming from Man8GlcNAc2 to Man7GlcNAc2 in the N-glycans. Seems to have alpha 1,2-mannosidase activity (By similarity). ["1-41"] 1 1q25.3 HGNC:16787 true hsa:80267 NP_001306889.1:NM_001319960.1;NP_079467.3-NM_025191.3 Ca(2+) Endoplasmic reticulum lumen 3.2.1.113 2020-07-07T21:30:21Z 2020-07-28T02:34:39Z 0 0 0 5614 CDBP05613 Caspase-3 P42574 CASP3_HUMAN true false Enzyme Homo_sapiens CASP3 277 31607.58 protein-containing complex binding Involved in the activation cascade of caspases responsible for apoptosis execution. At the onset of apoptosis it proteolytically cleaves poly(ADP-ribose) polymerase (PARP) at a '216-Asp-|-Gly-217' bond. Cleaves and activates sterol regulatory element binding proteins (SREBPs) between the basic helix-loop-helix leucine zipper domain and the membrane attachment domain. Cleaves and activates caspase-6, -7 and -9. Involved in the cleavage of huntingtin. Triggers cell adhesion in sympathetic neurons through RET cleavage. 1CP3;1GFW;1I3O;1NME;1NMQ;1NMS;1PAU;1QX3;1RE1;1RHJ;1RHK;1RHM;1RHQ;1RHR;1RHU;2C1E;2C2K;2C2M;2C2O;2CDR;2CJX;2CJY;2CNK;2CNL;2CNN;2CNO;2DKO;2H5I;2H5J;2H65;2J30;2J31;2J32;2J33;2XYG;2XYH;2XYP;2XZD;2XZT;2Y0B;3DEH;3DEI;3DEJ;3DEK;3EDQ;3GJQ;3GJR;3GJS;3GJT;3H0E;3ITN;3KJF;3PCX;3PD0;3PD1;4DCJ;4DCO;4DCP;4EHA;4EHD;4EHF;4EHH;4EHK;4EHL;4EHN;4JJE;4JQY;4JQZ;4JR0;4PRY;4PS0;4QTX;4QTY;4QU0;4QU5;4QU8;4QU9;4QUA;4QUB;4QUD;4QUE;4QUG;4QUH;4QUI;4QUJ;4QUL;5I9B;5I9T;5IAB;5IAE;5IAG;5IAJ;5IAK;5IAN;5IAR;5IAS;5IBC;5IBP;5IBR;5IC4 4 4q35.1 HGNC:1504 true hsa:836 NP_004337.2:NM_004346.3;NP_116786.1-NM_032991.2;XP_011530603.1-XM_011532301.1 Highly expressed in lung, spleen, heart, liver and kidney. Moderate levels in brain and skeletal muscle, and low in testis. Also found in many cell lines, highest expression in cells of the immune system. Heterotetramer that consists of two anti-parallel arranged heterodimers, each one formed by a 17 kDa (p17) and a 12 kDa (p12) subunit. Interacts with BIRC6/bruce Cytoplasm 3.4.22.56 2020-07-07T21:30:22Z 2020-07-28T02:31:04Z 1 0 0 5615 CDBP05614 C-X-C motif chemokine 2 P19875 CXCL2_HUMAN false false Receptor Homo_sapiens CXCL2 107 11388.55 CXCR chemokine receptor binding Produced by activated monocytes and neutrophils and expressed at sites of inflammation. Hematoregulatory chemokine, which, in vitro, suppresses hematopoietic progenitor cell proliferation. GRO-beta(5-73) shows a highly enhanced hematopoietic activity. ["1-34"] 1QNK;5OB5 4 4q13.3 HGNC:4603 true hsa:2920 NP_002080.1:NM_002089.3 Secreted 2020-07-07T21:30:22Z 2020-07-28T02:32:22Z 1 0 0 5616 CDBP05615 Tumor necrosis factor receptor superfamily member 10B O14763 TR10B_HUMAN false false Receptor Homo_sapiens TNFRSF10B 440 47877.885 TRAIL binding Receptor for the cytotoxic ligand TNFSF10/TRAIL (PubMed:10549288). The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. Promotes the activation of NF-kappa-B. Essential for ER stress-induced apoptosis. ["1-55"] ["211-231"] 1D0G;1D4V;1DU3;1ZA3;2H9G;3X3F;4I9X;4N90;4OD2;6NHW;6NHY 8 8p21.3 HGNC:11905 true hsa:8795 NP_003833.4:NM_003842.4;NP_671716.2-NM_147187.2 Widely expressed in adult and fetal tissues; very highly expressed in tumor cell lines such as HeLaS3, K-562, HL-60, SW480, A-549 and G-361; highly expressed in heart, peripheral blood lymphocytes, liver, pancreas, spleen, thymus, prostate, ovary, uterus, placenta, testis, esophagus, stomach and throughout the intestinal tract; not detectable in brain. Monomer (PubMed:10549288). Can interact with TRADD and RIPK1. Interacts with HCMV protein UL141; this interaction prevents TNFRSF10B cell surface expression. Two TNFRSF10B monomers interact with a UL141 homodimer. Three TNFRSF10B molecules interact with TNFSF10 homotrimer (PubMed:10549288). In the absence of stimulation, interacts with BIRC2, DDX3X and GSK3B. The interaction with BIRC2 and DDX3X is further enhanced upon receptor stimulation and accompanied by DDX3X and BIRC2 cleavage (PubMed:18846110) Membrane 2020-07-07T21:30:22Z 2020-07-28T02:31:04Z 1 0 0 5617 CDBP05616 Suppressor of cytokine signaling 5 O75159 SOCS5_HUMAN false false Receptor Homo_sapiens SOCS5 536 61245.525 receptor tyrosine kinase binding SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. May be a substrate-recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Inhibits for instance EGF signaling by mediating the degradation of the EGF receptor/EGFR. Involved in the regulation of T-helper cell differentiation by inhibiting of the IL4 signaling pathway which promotes differentiation into the Th2 phenotype. Can also partially inhibit IL6 and LIF signaling. 2 2p21 HGNC:16852 true hsa:9655 NP_054730.1:NM_014011.4;NP_659198.1-NM_144949.2 Interacts with IL4R; inhibits IL4 signaling . Interacts with EGFR. Interacts with ELOB and ELOC; mediates EGFR ubiquitination and degradation 2020-07-07T21:30:22Z 2020-07-28T02:32:22Z 1 0 0 5618 CDBP05617 ER degradation-enhancing alpha-mannosidase-like protein 2 Q9BV94 EDEM2_HUMAN false false Enzyme Homo_sapiens EDEM2 541 64752.365 mannosyl-oligosaccharide 1,2-alpha-mannosidase activity Involved in the endoplasmic reticulum-associated degradation (ERAD) pathway that targets misfolded glycoproteins for degradation in an N-glycan-dependent manner (PubMed:15537790, PubMed:25092655). May initiate ERAD by promoting the first mannose trimming step of ERAD substrates, from Man9GlcNAc2 to Man8GlcNAc2 (PubMed:25092655). Seems to recognize and bind to exposed hydrophobic regions in target proteins (By similarity). ["1-21"] 20 20q11.22 HGNC:15877 true hsa:55741 NP_001138497.1:NM_001145025.1;NP_060687.2-NM_018217.2 Expressed ubiquitously in all tissues tested with slightly higher levels detected in small intestine and peripheral blood leukocytes and weakest levels in brain and skeletal muscle. Endoplasmic reticulum lumen 2020-07-07T21:30:22Z 2020-07-28T02:34:39Z 0 0 0 5619 CDBP05618 Taste receptor type 2 member 50 P59544 T2R50_HUMAN false false Receptor Homo_sapiens TAS2R50 299 34557.37 G protein-coupled receptor activity Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). ["2-22", "56-76", "88-108", "127-147", "182-202", "230-250", "260-280"] 12 12p13.2 HGNC:18882 true hsa:259296 NP_795371.2:NM_176890.2 Expressed in subsets of taste receptor cells of the tongue and exclusively in gustducin-positive cells. Membrane 2020-07-07T21:30:22Z 2020-07-28T02:31:05Z 1 0 0 5620 CDBP05619 Dickkopf-related protein 1 O94907 DKK1_HUMAN false false Enzyme Homo_sapiens DKK1 266 28671.305 receptor antagonist activity Antagonizes canonical Wnt signaling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalization of LRP5/6 (PubMed:22000856). DKKs play an important role in vertebrate development, where they locally inhibit Wnt regulated processes such as antero-posterior axial patterning, limb development, somitogenesis and eye formation. In the adult, Dkks are implicated in bone formation and bone disease, cancer and Alzheimer disease (PubMed:17143291). Inhibits the pro-apoptotic function of KREMEN1 in a Wnt-independent manner, and has anti-apoptotic activity (By similarity). ["1-31"] 3S2K;3S8V;3SOQ;5FWW;5GJE 10 10q21.1 HGNC:2891 true hsa:22943 NP_036374.1:NM_012242.2 Placenta. Interacts with LRP6 (PubMed:11448771, PubMed:17804805, PubMed:20093360, PubMed:22000856). Interacts (via the C-termianl Cys-rich domain) with LRP5 (via beta-propeller regions 3 and 4); the interaction, enhanced by MESD and or KREMEN, antagonizes Wnt-mediated signaling (PubMed:19746449). Forms a ternary complex with LRP6 and KREM1 (PubMed:27524201). Interacts with KREM1 (PubMed:17804805) Secreted 2020-07-07T21:30:22Z 2020-07-28T02:34:39Z 1 0 1 5621 CDBP05620 Nuclear factor NF-kappa-B p100 subunit Q00653 NFKB2_HUMAN false false Transcription Factor Homo_sapiens NFKB2 900 96748.355 transcription coactivator activity NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. In a non-canonical activation pathway, the MAP3K14-activated CHUK/IKKA homodimer phosphorylates NFKB2/p100 associated with RelB, inducing its proteolytic processing to NFKB2/p52 and the formation of NF-kappa-B RelB-p52 complexes. The NF-kappa-B heterodimeric RelB-p52 complex is a transcriptional activator. The NF-kappa-B p52-p52 homodimer is a transcriptional repressor. NFKB2 appears to have dual functions such as cytoplasmic retention of attached NF-kappa-B proteins by p100 and generation of p52 by a cotranslational processing. The proteasome-mediated process ensures the production of both p52 and p100 and preserves their independent function. p52 binds to the kappa-B consensus sequence 5'-GGRNNYYCC-3', located in the enhancer region of genes involved in immune response and acute phase reactions. p52 and p100 are respectively the minor and major form; the processing of p100 being relatively poor. Isoform p49 is a subunit of the NF-kappa-B protein complex, which stimulates the HIV enhancer in synergy with p65. In concert with RELB, regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer. 1A3Q;2D96;3DO7;4OT9;5ZMC 10 10q24.32 HGNC:7795 true hsa:4791 NP_001070962.1:NM_001077494.3;NP_001248332.1-NM_001261403.2;NP_001275653.1-NM_001288724.1;NP_001309863.1-NM_001322934.1;NP_001309864.1-NM_001322935.1;NP_002493.3-NM_002502.5 Component of the NF-kappa-B RelB-p52 complex. Homodimer; component of the NF-kappa-B p52-p52 complex. Component of the NF-kappa-B p65-p52 complex. Component of the NF-kappa-B p52-c-Rel complex. NFKB2/p52 interacts with NFKBIE. Component of a complex consisting of the NF-kappa-B p50-p50 homodimer and BCL3. Directly interacts with MEN1 Nucleus; Cytoplasm 2020-07-07T21:30:22Z 2020-07-28T02:32:07Z 0 0 1 5622 CDBP05621 Suppressor of cytokine signaling 3 O14543 SOCS3_HUMAN false false Receptor Homo_sapiens SOCS3 225 24769.88 protein kinase inhibitor activity SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. SOCS3 is involved in negative regulation of cytokines that signal through the JAK/STAT pathway. Inhibits cytokine signal transduction by binding to tyrosine kinase receptors including gp130, LIF, erythropoietin, insulin, IL12, GCSF and leptin receptors. Binding to JAK2 inhibits its kinase activity. Suppresses fetal liver erythropoiesis. Regulates onset and maintenance of allergic responses mediated by T-helper type 2 cells. Regulates IL-6 signaling in vivo (By similarity). Probable substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Seems to recognize IL6ST (By similarity). 17 17q25.3 HGNC:19391 true hsa:9021 NP_003946.3:NM_003955.4 Widely expressed with high expression in heart, placenta, skeletal muscle, peripheral blood leukocytes, fetal and adult lung, and fetal liver and kidney. Lower levels in thymus. Interacts with multiple activated proteins of the tyrosine kinase signaling pathway including IGF1 receptor, insulin receptor and JAK2. Binding to JAK2 is mediated through the KIR and SH2 domains to a phosphorylated tyrosine residue within the JAK2 JH1 domain (PubMed:10421843). Binds specific activated tyrosine residues of the leptin, EPO, IL12, GSCF and gp130 receptors (PubMed:12027890, PubMed:14559241). Interaction with CSNK1E stabilizes SOCS3 protein (PubMed:15070676). Component of the probable ECS(SOCS3) E3 ubiquitin-protein ligase complex which contains CUL5, RNF7/RBX2, Elongin BC complex and SOCS3 (PubMed:15601820). Interacts with CUL5, RNF7, ELOB and ELOC (PubMed:15601820). Interacts with CUL2 (PubMed:15601820). Interacts with FGFR3 (PubMed:16410555). Interacts with INSR . Interacts with BCL10; this interaction may interfere with BCL10-binding with PELI2 (By similarity). Interacts with NOD2 (via CARD domain); the interaction promotes NOD2 degradation (PubMed:23019338) 2020-07-07T21:30:22Z 2020-07-28T02:32:22Z 1 0 0 5623 CDBP05622 Microtubule-associated proteins 1A/1B light chain 3B Q9GZQ8 MLP3B_HUMAN false false Enzyme Homo_sapiens MAP1LC3B 125 14687.94 ubiquitin protein ligase binding Ubiquitin-like modifier involved in formation of autophagosomal vacuoles (autophagosomes). Plays a role in mitophagy which contributes to regulate mitochondrial quantity and quality by eliminating the mitochondria to a basal level to fulfill cellular energy requirements and preventing excess ROS production. While LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation. Promotes primary ciliogenesis by removing OFD1 from centriolar satellites via the autophagic pathway. Through its interaction with the reticulophagy receptor TEX264, participates in the remodeling of subdomains of the endoplasmic reticulum into autophagosomes upon nutrient stress, which then fuse with lysosomes for endoplasmic reticulum turnover (PubMed:31006538, PubMed:31006537). 1V49;2LUE;2N9X;2ZJD;3VTU;3VTV;3VTW;3WAO;3X0W;4WAA;5D94;5DCN;5GMV;5MS2;5MS5;5MS6;5V4K;5W9A;5XAC;5XAD;5XAE;6J04 16 16q24.2 HGNC:13352 true hsa:81631 NP_073729.1:NM_022818.4 Most abundant in heart, brain, skeletal muscle and testis. Little expression observed in liver. 3 different light chains, LC1, LC2 and LC3, can associate with MAP1A and MAP1B proteins . Interacts at microtubules with CABP1 (via EF-hands 1 and 2) but not with calmodulin (PubMed:15095872). Interacts with FYCO1 (via C-terminus) (PubMed:20100911, PubMed:24089205). Interacts with TP53INP1 and TP53INP2 (PubMed:22470510). Interacts with TBC1D25 (PubMed:21383079). Directly interacts with SQSTM1; this interaction leads to MAP1LC3B recruitment to inclusion bodies containing polyubiquitinated protein aggregates and to inclusion body degradation by autophagy (PubMed:17580304, PubMed:24089205, PubMed:24668264, PubMed:18524774). Interacts with ATG4B, MAPK15 and BNIP3 (PubMed:22948227, PubMed:23209295). Interacts with MAPB1, KEAP1, PCM1, OFD1, CEP131, and TECPR2 (PubMed:20562859, PubMed:24089205). Interacts with TBC1D5 (PubMed:22354992). Found in a complex with UBQLN1 and UBQLN2 (PubMed:20529957). Interacts with UBQLN4 (via STI1 1 and 2 domains). Interacts with UBQLN1 in the presence of UBQLN4 (PubMed:23459205). Interacts with ATG13 (PubMed:24290141). Interacts with RETREG2, RETREG1 and RETREG3 (PubMed:26040720). No interaction, or very weak, with WDFY3 (PubMed:24668264). Interacts with PLCL1; the interaction inhibits autophagosome formation (By similarity). Interacts with TRIM16 (PubMed:30143514). Interacts with CRY1 and PER2 (By similarity). Interacts with the reticulophagy receptor TEX264 (PubMed:31006538, PubMed:31006537) Cytoplasm; Cytoskeleton; Endomembrane system; Cytoplasmic vesicle; Autophagosome membrane; Autophagosome 2020-07-07T21:30:22Z 2020-07-28T02:34:39Z 0 0 0 5624 CDBP05623 Transforming growth factor beta-1 proprotein P01137 TGFB1_HUMAN false false Enzyme Homo_sapiens TGFB1 390 44340.685 type III transforming growth factor beta receptor binding Transforming growth factor beta-1 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-1 (TGF-beta-1) chains, which constitute the regulatory and active subunit of TGF-beta-1, respectively.Required to maintain the Transforming growth factor beta-1 (TGF-beta-1) chain in a latent state during storage in extracellular matrix (PubMed:28117447). Associates non-covalently with TGF-beta-1 and regulates its activation via interaction with 'milieu molecules', such as LTBP1, LRRC32/GARP and LRRC33/NRROS, that control activation of TGF-beta-1 (PubMed:2022183, PubMed:8617200, PubMed:8939931, PubMed:19750484, PubMed:22278742, PubMed:19651619). Interaction with LRRC33/NRROS regulates activation of TGF-beta-1 in macrophages and microglia (Probable). Interaction with LRRC32/GARP controls activation of TGF-beta-1 on the surface of activated regulatory T-cells (Tregs) (PubMed:19750484, PubMed:22278742, PubMed:19651619). Interaction with integrins (ITGAV:ITGB6 or ITGAV:ITGB8) results in distortion of the Latency-associated peptide chain and subsequent release of the active TGF-beta-1 (PubMed:22278742, PubMed:28117447).Transforming growth factor beta-1: Multifunctional protein that regulates the growth and differentiation of various cell types and is involved in various processes, such as normal development, immune function, microglia function and responses to neurodegeneration (By similarity). Activation into mature form follows different steps: following cleavage of the proprotein in the Golgi apparatus, Latency-associated peptide (LAP) and Transforming growth factor beta-1 (TGF-beta-1) chains remain non-covalently linked rendering TGF-beta-1 inactive during storage in extracellular matrix (PubMed:29109152). At the same time, LAP chain interacts with 'milieu molecules', such as LTBP1, LRRC32/GARP and LRRC33/NRROS that control activation of TGF-beta-1 and maintain it in a latent state during storage in extracellular milieus (PubMed:2022183, PubMed:8617200, PubMed:8939931, PubMed:19750484, PubMed:22278742, PubMed:19651619). TGF-beta-1 is released from LAP by integrins (ITGAV:ITGB6 or ITGAV:ITGB8): integrin-binding to LAP stabilizes an alternative conformation of the LAP bowtie tail and results in distortion of the LAP chain and subsequent release of the active TGF-beta-1 (PubMed:22278742, PubMed:28117447). Once activated following release of LAP, TGF-beta-1 acts by binding to TGF-beta receptors (TGFBR1 and TGFBR2), which transduce signal (PubMed:20207738). While expressed by many cells types, TGF-beta-1 only has a very localized range of action within cell environment thanks to fine regulation of its activation by Latency-associated peptide chain (LAP) and 'milieu molecules' (By similarity). Plays an important role in bone remodeling: acts as a potent stimulator of osteoblastic bone formation, causing chemotaxis, proliferation and differentiation in committed osteoblasts (By similarity). Can promote either T-helper 17 cells (Th17) or regulatory T-cells (Treg) lineage differentiation in a concentration-dependent manner (By similarity). At high concentrations, leads to FOXP3-mediated suppression of RORC and down-regulation of IL-17 expression, favoring Treg cell development (By similarity). At low concentrations in concert with IL-6 and IL-21, leads to expression of the IL-17 and IL-23 receptors, favoring differentiation to Th17 cells (By similarity). Stimulates sustained production of collagen through the activation of CREB3L1 by regulated intramembrane proteolysis (RIP) (PubMed:25310401). Mediates SMAD2/3 activation by inducing its phosphorylation and subsequent translocation to the nucleus (PubMed:25893292, PubMed:29483653, PubMed:30696809). Can induce epithelial-to-mesenchymal transition (EMT) and cell migration in various cell types (PubMed:25893292, PubMed:30696809). ["1-29"] 1KLA;1KLC;1KLD;3KFD;4KV5;5FFO;5VQP;6P7J 19 19q13.2 HGNC:11766 true hsa:7040 NP_000651.3:NM_000660.6 Highly expressed in bone (PubMed:11746498, PubMed:17827158). Abundantly expressed in articular cartilage and chondrocytes and is increased in osteoarthritis (OA) (PubMed:11746498, PubMed:17827158). Colocalizes with ASPN in chondrocytes within OA lesions of articular cartilage (PubMed:17827158). Homodimer; disulfide-linked (PubMed:20207738, PubMed:25209176, PubMed:28117447, PubMed:29109152). Interacts with the serine proteases, HTRA1 and HTRA3: the interaction with either inhibits TGFB1-mediated signaling. The HTRA protease activity is required for this inhibition . May interact with THSD4; this interaction may lead to sequestration by FBN1 microfibril assembly and attenuation of TGFB signaling (By similarity). Interacts with CD109, DPT and ASPN (PubMed:9895299, PubMed:16754747, PubMed:17827158). Latency-associated peptide: Homodimer; disulfide-linked (PubMed:28117447, PubMed:29109152). Latency-associated peptide: Interacts with Transforming growth factor beta-1 (TGF-beta-1) chain; interaction is non-covalent and maintains (TGF-beta-1) in a latent state; each Latency-associated peptide (LAP) monomer interacts with TGF-beta-1 in the other monomer (PubMed:29109152). Latency-associated peptide: Interacts with LTBP1; leading to regulate activation of TGF-beta-1 (PubMed:2022183, PubMed:8617200, PubMed:8939931). Latency-associated peptide: Interacts with LRRC32/GARP; leading to regulate activation of TGF-beta-1 on the surface of activated regulatory T-cells (Tregs) (PubMed:19750484, PubMed:22278742, PubMed:19651619). Interacts with LRRC33/NRROS; leading to regulate activation of TGF-beta-1 in macrophages and microglia (Probable). Latency-associated peptide: Interacts (via cell attachment site) with integrins ITGAV and ITGB6 (ITGAV:ITGB6), leading to release of the active TGF-beta-1 (PubMed:22278742, PubMed:28117447). Latency-associated peptide: Interacts with NREP; the interaction results in a decrease in TGFB1 autoinduction (By similarity). Latency-associated peptide: Interacts with HSP90AB1; inhibits latent TGFB1 activation (PubMed:20599762). Transforming growth factor beta-1: Homodimer; disulfide-linked (PubMed:20207738, PubMed:25209176, PubMed:28117447, PubMed:29109152). Transforming growth factor beta-1: Interacts with TGF-beta receptors (TGFBR1 and TGFBR2), leading to signal transduction (PubMed:20207738) Secreted; Extracellular space; Extracellular matrix 2020-07-07T21:30:22Z 2020-07-28T02:34:39Z 1 0 1 5625 CDBP05624 Taste receptor type 2 member 38 P59533 T2R38_HUMAN false false Receptor Homo_sapiens TAS2R38 333 37891.97 G protein-coupled receptor activity Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). ["18-38", "56-76", "95-115", "143-163", "191-211", "252-272", "277-297"] 7 7q34 HGNC:9584 true hsa:5726 NP_789787.4:NM_176817.4 Expressed in subsets of taste receptor cells of the tongue and exclusively in gustducin-positive cells. Expressed in testis (PubMed:16720576). Membrane 2020-07-07T21:30:22Z 2020-07-28T02:31:05Z 1 0 0 5626 CDBP05625 Ghrelin O-acyltransferase Q96T53 MBOA4_HUMAN true false Enzyme Homo_sapiens MBOAT4 435 49715.51 serine O-acyltransferase activity Mediates the octanoylation of ghrelin at 'Ser-3'. Can use a variety of fatty acids as substrates including octanoic acid, decanoic acid and tetradecanoic acid. ["6-26", "43-63", "163-183", "241-261", "345-365", "377-397", "407-427"] 8 8p12 HGNC:32311 true hsa:619373 NP_001094386.1:NM_001100916.1;XP_016869215.1-XM_017013726.1 Expressed predominantly in stomach with moderate levels in pancreas and relatively low levels in most other tissues. Endoplasmic reticulum membrane 2.3.1.- 2020-07-07T21:30:22Z 2020-07-28T02:31:05Z 0 0 0 5627 CDBP05626 Taste receptor type 2 member 31 P59538 T2R31_HUMAN false false Receptor Homo_sapiens TAS2R31 309 35278.07 G protein-coupled receptor activity Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). Activated by the sulfonyl amide sweeteners saccharin and acesulfame K. ["3-23", "56-76", "101-121", "127-147", "182-202", "230-250", "260-280"] 12 12p13.2 HGNC:19113 true hsa:259290 NP_795366.2:NM_176885.2 Expressed in subsets of taste receptor cells of the tongue and exclusively in gustducin-positive cells. Membrane 2020-07-07T21:30:22Z 2020-07-28T02:31:05Z 1 0 0 5628 CDBP05627 Protein ERGIC-53 P49257 LMAN1_HUMAN false false Metal Binding Homo_sapiens LMAN1 510 57548.665 unfolded protein binding Mannose-specific lectin. May recognize sugar residues of glycoproteins, glycolipids, or glycosylphosphatidyl inositol anchors and may be involved in the sorting or recycling of proteins, lipids, or both. The LMAN1-MCFD2 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins. ["1-30"] ["478-498"] 3A4U;3LCP;3WHT;3WHU;3WNX;4GKX;4GKY;4YGB;4YGC;4YGD;4YGE 18 18q21.32 HGNC:6631 true hsa:3998 NP_005561.1:NM_005570.3 Ubiquitous. Exists both as a covalent disulfide-linked homohexamer, and a complex of three disulfide-linked dimers non-covalently kept together. Interacts with MCFD2. May interact with TMEM115. Interacts with RAB3GAP1 and RAB3GAP2 (PubMed:22337587). Interacts with UBXN6 (PubMed:22337587) Endoplasmic reticulum-Golgi intermediate compartment membrane; Golgi apparatus membrane; Endoplasmic reticulum membrane 2020-07-07T21:30:22Z 2020-07-28T02:32:06Z 0 1 0 5629 CDBP05628 Taste receptor type 2 member 1 Q9NYW7 TA2R1_HUMAN false false Receptor Homo_sapiens TAS2R1 299 34332.51 taste receptor activity Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5. ["10-30", "56-76", "82-102", "125-145", "179-199", "223-243", "258-278"] 5 5p15.31 HGNC:14909 true hsa:50834 NP_062545.1:NM_019599.2 Expressed in subsets of taste receptor cells of the tongue and palate epithelium and exclusively in gustducin-positive cells. Membrane 2020-07-07T21:30:22Z 2020-07-28T02:31:06Z 1 0 0 5630 CDBP05629 Taste receptor type 2 member 20 P59543 T2R20_HUMAN false false Receptor Homo_sapiens TAS2R20 309 35357.34 G protein-coupled receptor activity Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). ["7-27", "47-67", "80-100", "126-146", "179-199", "230-250", "260-280"] 12 12p13.2 HGNC:19109 true hsa:259295 NP_795370.2:NM_176889.3 Expressed in subsets of taste receptor cells of the tongue and exclusively in gustducin-positive cells. Membrane 2020-07-07T21:30:22Z 2020-07-28T02:31:06Z 1 0 0 5631 CDBP05630 Interleukin-4 P05112 IL4_HUMAN false false Enzyme Homo_sapiens IL4 153 17492.09 interleukin-4 receptor binding Participates in at least several B-cell activation processes as well as of other cell types (PubMed:3016727). It is a costimulator of DNA-synthesis. It induces the expression of class II MHC molecules on resting B-cells. It enhances both secretion and cell surface expression of IgE and IgG1. It also regulates the expression of the low affinity Fc receptor for IgE (CD23) on both lymphocytes and monocytes. Positively regulates IL31RA expression in macrophages (By similarity). Stimulates autophagy in dendritic cells by interfering with mTORC1 signaling and through the induction of RUFY4 (By similarity). ["1-24"] 1BBN;1BCN;1CYL;1HIJ;1HIK;1HZI;1IAR;1ILL;1ITE;1ITI;1ITL;1ITM;1RCB;2B8U;2B8X;2B8Y;2B8Z;2B90;2B91;2CYK;2D48;2INT;3BPL;3BPN;3QB7;4YDY;5FHX;6OEL 5 5q31.1 HGNC:6014 true hsa:3565 NP_000580.1:NM_000589.3;NP_758858.1-NM_172348.2 Secreted 2020-07-07T21:30:22Z 2020-07-28T02:34:39Z 1 0 1 5632 CDBP05631 Microtubule-associated proteins 1A/1B light chain 3A Q9H492 MLP3A_HUMAN false false Enzyme Homo_sapiens MAP1LC3A 121 14272.36 ubiquitin protein ligase binding Ubiquitin-like modifier involved in formation of autophagosomal vacuoles (autophagosomes) (PubMed:20713600, PubMed:24290141). While LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation (PubMed:20713600). Through its interaction with the reticulophagy receptor TEX264, participates in the remodeling of subdomains of the endoplasmic reticulum into autophagosomes upon nutrient stress, which then fuse with lysosomes for endoplasmic reticulum turnover (PubMed:31006538, PubMed:31006537). 3ECI;3WAL;3WAN;4ZDV;5CX3;5DPR 20 20q11.22 HGNC:6838 true hsa:84557 NP_115903.1:NM_032514.3;NP_852610.1-NM_181509.2 Most abundant in heart, brain, liver, skeletal muscle and testis but absent in thymus and peripheral blood leukocytes. 3 different light chains, LC1, LC2 and LC3, can associate with MAP1A and MAP1B proteins . Interacts with TP53INP1 and TP53INP2 (PubMed:19056683, PubMed:22470510). Directly interacts with SQSTM1; this interaction leads to MAP1LC3A recruitment to inclusion bodies containing polyubiquitinated protein aggregates and to inclusion body degradation by autophagy (PubMed:17580304). Interacts with ATG13 (PubMed:24290141, PubMed:23043107). Interacts with ULK1 (PubMed:23043107). Interacts with TBC1D5 (PubMed:22354992). Found in a complex with UBQLN1 and UBQLN2 (PubMed:20529957). Interacts with UBQLN4 (via STI1 1 and 2 domains). Interacts with UBQLN1 in the presence of UBQLN4 (PubMed:23459205). Interacts with TRIM5 (PubMed:25127057). Interacts with MEFV (PubMed:26347139). Interacts with RETREG1, RETREG2 and RETREG3 (PubMed:26040720). Interacts with PICALM. Interacts with the reticulophagy receptor TEX264 (PubMed:31006538, PubMed:31006537) Cytoplasm; Cytoskeleton; Endomembrane system; Cytoplasmic vesicle; Autophagosome membrane; Autophagosome 2020-07-07T21:30:22Z 2020-07-28T02:34:39Z 0 0 0 5633 CDBP05632 Oxysterols receptor LXR-beta P55055 NR1H2_HUMAN false false Receptor Homo_sapiens NR1H2 364 50973.375 zinc ion binding Nuclear receptor that exhibits a ligand-dependent transcriptional activation activity (PubMed:25661920). Binds preferentially to double-stranded oligonucleotide direct repeats having the consensus half-site sequence 5'-AGGTCA-3' and 4-nt spacing (DR-4). Regulates cholesterol uptake through MYLIP-dependent ubiquitination of LDLR, VLDLR and LRP8; DLDLR and LRP8. Interplays functionally with RORA for the regulation of genes involved in liver metabolism (By similarity). Plays an anti-inflammatory role during the hepatic acute phase response by acting as a corepressor: inhibits the hepatic acute phase response by preventing dissociation of the N-Cor corepressor complex (PubMed:20159957). 1P8D;1PQ6;1PQ9;1PQC;1UPV;1UPW;3KFC;3L0E;4DK7;4DK8;4NQA;4RAK;5HJP;5I4V;5JY3;5KYA;5KYJ;6JIO;6S4N;6S4T;6S4U;6S5K 19 19q13.33 HGNC:7965 true hsa:7376 NP_001243576.1:NM_001256647.1;NP_009052.3-NM_007121.5 Ubiquitous. Forms a heterodimer with RXR. Interacts with CCAR2 (via N-terminus) in a ligand-independent manner (PubMed:25661920). Interacts (when sumoylated) with GPS2; interaction with GPS2 onto hepatic acute phase protein promoters prevents N-Cor corepressor complex dissociation (PubMed:20159957) Nucleus 2020-07-07T21:30:22Z 2020-07-28T02:31:06Z 1 0 1 5634 CDBP05633 Taste receptor type 2 member 39 P59534 T2R39_HUMAN false false Receptor Homo_sapiens TAS2R39 338 38625.295 G protein-coupled receptor activity Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). ["31-51", "75-95", "117-137", "157-177", "206-226", "263-283", "292-312"] 2GFZ 7 7q34 HGNC:18886 true hsa:259285 NP_795362.2:NM_176881.2 Expressed in subsets of taste receptor cells of the tongue and exclusively in gustducin-positive cells. Membrane 2020-07-07T21:30:22Z 2020-07-28T02:31:06Z 1 0 0 5635 CDBP05634 Beclin-1 Q14457 BECN1_HUMAN false false Receptor Homo_sapiens BECN1 450 51895.945 ubiquitin protein ligase binding Plays a central role in autophagy (PubMed:23184933, PubMed:28445460). Acts as core subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagosomes and PI3KC3-C2 in maturation of autophagosomes and endocytosis. Involved in regulation of degradative endocytic trafficking and required for the abcission step in cytokinesis, probably in the context of PI3KC3-C2 (PubMed:20643123, PubMed:20208530, PubMed:26783301). Essential for the formation of PI3KC3-C2 but not PI3KC3-C1 PI3K complex forms. Involved in endocytosis (PubMed:25275521). Protects against infection by a neurovirulent strain of Sindbis virus (PubMed:9765397). May play a role in antiviral host defense.Beclin-1-C 35 kDa localized to mitochondria can promote apoptosis; it induces the mitochondrial translocation of BAX and the release of proapoptotic factors. 2P1L;2PON;3DVU;4DDP;4MI8;5EFM;5HHE;5VAU;5VAX;5VAY;6DCN;6DCO;6HOI;6HOJ;6HOK 17 17q21.31 HGNC:1034 true hsa:8678 NP_001300927.1:NM_001313998.1;NP_001300928.1-NM_001313999.1;NP_001300929.1-NM_001314000.1;NP_003757.1-NM_003766.4 Ubiquitous. A homodimeric form is proposed to exist; this metastable form readily transits to ATG14- or UVRAG-containing complexes with BECN1:UVRAG being more stable than BECN1:ATG14 . Component of the PI3K (PI3KC3/PI3K-III/class III phosphatidylinositol 3-kinase) complex the core of which is composed of the catalytic subunit PIK3C3, the regulatory subunit PIK3R4 and BECN1 associating with additional regulatory/auxilliary subunits to form alternative complex forms. Alternative complex forms containing a forth regulatory subunit in a mutually exclusive manner are PI3K complex I (PI3KC3-C1) containing ATG14, and PI3K complex II (PI3KC3-C2) containing UVRAG. PI3KC3-C1 displays a V-shaped architecture with PIK3R4 serving as a bridge between PIK3C3 and the ATG14:BECN1 subcomplex (PubMed:18843052, PubMed:19050071, PubMed:19270696, PubMed:23878393, PubMed:25490155). Both, PI3KC3-C1 and PI3KC3-C2, can associate with further regulatory subunits, such as RUBCN, SH3GLB1/Bif-1 and AMBRA1 (PubMed:20643123, PubMed:19270696). PI3KC3-C1 probably associates with PIK3CB (By similarity). Interacts with AMBRA1, GOPC, GRID2 (By similarity). Interacts with BCL2 and BCL2L1 isoform Bcl-X(L); the interaction inhibits BECN1 function in promoting autophagy by interfering with the formation of the PI3K complex (PubMed:9765397, PubMed:16179260, PubMed:17446862, PubMed:17337444, PubMed:17659302). Interacts with cytosolic HMGB1; inhibits the interaction of BECN1 and BCL2 leading to promotion of autophagy (PubMed:20819940). Interacts with USP10, USP13, VMP1, DAPK1, RAB39A (PubMed:19180116, PubMed:17724469, PubMed:17337444, PubMed:21962518, PubMed:24349490). Interacts with the poly-Gln domain of ATXN3; the interaction causes deubiquitination at Lys-402 and stabilizes BECN1 (PubMed:28445460). Interacts with SLAMF1 (PubMed:22493499). Interacts with TRIM5; the interaction causes activation of BECN1 by causing its dissociation from its inhibitors BCL2 and TAB2 (PubMed:25127057). Interacts with active ULK1 (phosphorylated on 'Ser-317') and MEFV simultaneously (PubMed:26347139). Interacts with WDR81 and WDR91; negatively regulates the PI3 kinase/PI3K activity associated with endosomal membranes (PubMed:26783301). Interacts with LAPTM4B; competes with EGFR for LAPTM4B binding; regulates EGFR activity (PubMed:28479384). Interacts with TRIM50 (PubMed:29604308). Interacts with TRIM16. Interacts with ATG14; this interaction is increased in the absence of TMEM39A (PubMed:31806350)(Microbial infection) Interacts with human cytomegalovirus/HHV-5 protein TRS1(Microbial infection) Interacts with murine gammaherpesvirus 68 M11(Microbial infection) Interacts with herpes simplex virus 1 (HHV-1) protein ICP34.5; this interaction antagonizes the host autophagy response Cytoplasm; Golgi apparatus; trans-Golgi network membrane; Endosome membrane; Endoplasmic reticulum membrane; Mitochondrion membrane; Endosome; Cytoplasmic vesicle; Autophagosome; Mitochondrion; Nucleus 2020-07-07T21:30:22Z 2020-07-28T02:32:22Z 1 0 0 5636 CDBP05635 Involucrin P07476 INVO_HUMAN false false Enzyme Homo_sapiens IVL 585 68478.89 Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia. 1EU0 1 1q21.3 HGNC:6187 true hsa:3713 NP_005538.2:NM_005547.2 Keratinocytes of epidermis and other stratified squamous epithelia. Directly or indirectly cross-linked to cornifelin (CNFN) Cytoplasm 2020-07-07T21:30:23Z 2020-07-28T02:34:39Z 0 0 0 5637 CDBP05636 Taste receptor type 2 member 19 P59542 T2R19_HUMAN false false Receptor Homo_sapiens TAS2R19 299 33907.72 G protein-coupled receptor activity Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). ["2-22", "56-76", "88-108", "128-148", "182-202", "227-247", "260-280"] 12 12p13.2 HGNC:19108 true hsa:259294 NP_795369.1:NM_176888.2 Expressed in subsets of taste receptor cells of the tongue and exclusively in gustducin-positive cells. Membrane 2020-07-07T21:30:23Z 2020-07-28T02:31:06Z 1 0 0 5638 CDBP05637 Interleukin-13 P35225 IL13_HUMAN false false Receptor Homo_sapiens IL13 146 15815.585 interleukin-13 receptor binding Cytokine (PubMed:8096327, PubMed:8097324). Inhibits inflammatory cytokine production (PubMed:8096327). Synergizes with IL2 in regulating interferon-gamma synthesis (PubMed:8096327). May be critical in regulating inflammatory and immune responses (PubMed:8096327, PubMed:8097324). Positively regulates IL31RA expression in macrophages (By similarity). ["1-24"] 1GA3;1IJZ;1IK0;1J9U;3BPO;3G6D;3ITR;3ITS;3L5W;3L5X;3LB6;4I77;4PS4;5E4E;5L6Y 5 5q31.1 HGNC:5973 true hsa:3596 NP_002179.2:NM_002188.2 Interacts with IL13RA2 Secreted 2020-07-07T21:30:23Z 2020-07-28T02:32:22Z 1 0 0 5639 CDBP05638 C-C motif chemokine 3 P10147 CCL3_HUMAN false false Enzyme Homo_sapiens CCL3 92 10085.355 protein kinase activity Monokine with inflammatory and chemokinetic properties. Binds to CCR1, CCR4 and CCR5. One of the major HIV-suppressive factors produced by CD8+ T-cells. Recombinant MIP-1-alpha induces a dose-dependent inhibition of different strains of HIV-1, HIV-2, and simian immunodeficiency virus (SIV). ["1-23"] 1B50;1B53;2X69;2X6G;3FPU;3H44;3KBX;4RA8;4ZKB;5COR;5D65 17 17q12 HGNC:10627 true hsa:6348 NP_002974.1:NM_002983.2 Self-associates. Also heterodimer of MIP-1-alpha(4-69) and MIP-1-beta(3-69) Secreted 2020-07-07T21:30:23Z 2020-07-28T02:34:39Z 1 0 1 5640 CDBP05639 Taste receptor type 2 member 45 P59539 T2R45_HUMAN false false Receptor Homo_sapiens TAS2R45 34277.9 G protein-coupled receptor activity Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). ["2-22", "56-76", "99-119", "127-147", "179-199", "230-250", "260-280"] HGNC:18876 true Expressed in subsets of taste receptor cells of the tongue and exclusively in gustducin-positive cells. Membrane 2020-07-07T21:30:23Z 2020-07-28T02:31:06Z 1 0 0 5641 CDBP05640 Taste receptor type 2 member 30 P59541 T2R30_HUMAN false false Receptor Homo_sapiens TAS2R30 319 36873.13 G protein-coupled receptor activity Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). ["2-22", "47-67", "87-107", "127-147", "179-199", "230-250", "260-280"] 12 12p13.2 HGNC:19112 true hsa:259293 NP_001091112.1:NM_001097643.1 Expressed in subsets of taste receptor cells of the tongue and exclusively in gustducin-positive cells. Membrane 2020-07-07T21:30:23Z 2020-07-28T02:31:07Z 1 0 0 5642 CDBP05641 Cannabinoid receptor 2 P34972 CNR2_HUMAN false false Receptor Homo_sapiens CNR2 360 39680.275 cannabinoid receptor activity Heterotrimeric G protein-coupled receptor for endocannabinoid 2-arachidonoylglycerol mediating inhibition of adenylate cyclase. May function in inflammatory response, nociceptive transmission and bone homeostasis. ["34-59", "72-92", "105-129", "150-172", "189-214", "247-267", "280-301"] 2KI9;5ZTY;6KPC;6KPF;6PT0 1 1p36.11 HGNC:2160 true hsa:1269 NP_001832.1:NM_001841.2;XP_011538931.1-XM_011540629.2;XP_016855750.1-XM_017000261.1 Preferentially expressed in cells of the immune system with higher expression in B-cells and NK cells (at protein level). Expressed in skin in suprabasal layers and hair follicles (at protein level). Highly expressed in tonsil and to a lower extent in spleen, peripheral blood mononuclear cells, and thymus. PubMed:14657172 could not detect expression in normal brain. Expressed in brain by perivascular microglial cells and dorsal root ganglion sensory neurons (at protein level). Two isoforms are produced by alternative promoter usage and differ only in the 5' UTR: isoform CB2A is observed predominantly in testis with some expression in brain, while isoform CB2B is predominant in spleen and leukocytes. Cell membrane; Cell projection; Dendrite; Perikaryon 2020-07-07T21:30:23Z 2020-07-28T02:31:07Z 1 0 0 5643 CDBP05642 Oxysterols receptor LXR-alpha Q13133 NR1H3_HUMAN false false Receptor Homo_sapiens NR1H3 387 50395.34 zinc ion binding Nuclear receptor that exhibits a ligand-dependent transcriptional activation activity (PubMed:19481530, PubMed:25661920). Interaction with retinoic acid receptor (RXR) shifts RXR from its role as a silent DNA-binding partner to an active ligand-binding subunit in mediating retinoid responses through target genes defined by LXRES (By similarity). LXRES are DR4-type response elements characterized by direct repeats of two similar hexanuclotide half-sites spaced by four nucleotides (By similarity). Plays an important role in the regulation of cholesterol homeostasis, regulating cholesterol uptake through MYLIP-dependent ubiquitination of LDLR, VLDLR and LRP8 (PubMed:19481530). Interplays functionally with RORA for the regulation of genes involved in liver metabolism (By similarity). 1UHL;3IPQ;3IPS;3IPU;5AVI;5AVL;5HJS 11 11p11.2 HGNC:7966 true hsa:10062 NP_001123573.1:NM_001130101.2;NP_001123574.1-NM_001130102.2;NP_005684.2-NM_005693.3;XP_005252762.1-XM_005252705.1;XP_005252763.1-XM_005252706.1;XP_005252764.1-XM_005252707.4;XP_005252766.1-XM_005252709.1;XP_005252767.1-XM_005252710.1;XP_005252770.1-XM_005252713.3;XP_006718175.1-XM_006718112.1;XP_006718176.1-XM_006718113.1;XP_006718178.1-XM_006718115.1;XP_006718179.1-XM_006718116.1;XP_011518107.1-XM_011519805.2;XP_016872547.1-XM_017017058.1 Visceral organs specific expression. Strong expression was found in liver, kidney and intestine followed by spleen and to a lesser extent the adrenals. Heterodimer of NR1H3 and RXR (retinoic acid receptor). Interacts with CCAR2 (via N-terminus) in a ligand-independent manner. Interacts with SIRT1 and this interaction is inhibited by CCAR2 (PubMed:25661920). Interacts with GPS2 (PubMed:19481530) Nucleus; Cytoplasm 2020-07-07T21:30:23Z 2020-07-28T02:31:07Z 1 0 1 5644 CDBP05643 Taste receptor type 2 member 42 Q7RTR8 T2R42_HUMAN false false Receptor Homo_sapiens TAS2R42 36194.015 G protein-coupled receptor activity Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). ["8-28", "51-71", "102-122", "128-148", "188-208", "239-259", "266-286"] HGNC:18888 true Membrane 2020-07-07T21:30:23Z 2020-07-28T02:31:07Z 1 0 0 5645 CDBP05644 Nischarin Q9Y2I1 NISCH_HUMAN false false Enzyme Homo_sapiens NISCH 583 166627.105 protein kinase binding Acts either as the functional imidazoline-1 receptor (I1R) candidate or as a membrane-associated mediator of the I1R signaling. Binds numerous imidazoline ligands that induces initiation of cell-signaling cascades triggering to cell survival, growth and migration. Its activation by the agonist rilmenidine induces an increase in phosphorylation of mitogen-activated protein kinases MAPK1 and MAPK3 in rostral ventrolateral medulla (RVLM) neurons that exhibited rilmenidine-evoked hypotension (By similarity). Blocking its activation with efaroxan abolished rilmenidine-induced mitogen-activated protein kinase phosphorylation in RVLM neurons (By similarity). Acts as a modulator of Rac-regulated signal transduction pathways (By similarity). Suppresses Rac1-stimulated cell migration by interacting with PAK1 and inhibiting its kinase activity (By similarity). Also blocks Pak-independent Rac signaling by interacting with RAC1 and inhibiting Rac1-stimulated NF-kB response element and cyclin D1 promoter activation (By similarity). Inhibits also LIMK1 kinase activity by reducing LIMK1 'Tyr-508' phosphorylation (By similarity). Inhibits Rac-induced cell migration and invasion in breast and colon epithelial cells (By similarity). Inhibits lamellipodia formation, when overexpressed (By similarity). Plays a role in protection against apoptosis. Involved in association with IRS4 in the enhancement of insulin activation of MAPK1 and MAPK3. When overexpressed, induces a redistribution of cell surface ITGA5 integrin to intracellular endosomal structures. 3P0C 3 3p21.1 HGNC:18006 true hsa:11188 NP_001263222.1:NM_001276293.1;NP_001263223.1-NM_001276294.1;NP_009115.2-NM_007184.3 Isoform 1, isoform 3 and isoform 4 are expressed in brain. Isoform 1 is expressed in endocrine tissues. Homooligomer. Interacts with GRB2. Interacts with PIK3R1; probably associates with the PI3-kinase complex. Interacts with IRS4. Found in a complex with ITGA5 and PAK1. Found in a complex with LIMK1 and PAK1. Interacts with ITGA5 (via cytoplasmic domain); this interaction is direct. Interacts with PAK1 (via kinase domain); this interaction is direct and is increased upon activation of PAK1 . Interacts with LIMK1 (via PDZ and kinase domain); this interaction is direct (By similarity). Interacts with LIMK2; this interaction depends on LIMK2 activity (By similarity). Interacts with RAC1 (activated state) (By similarity). Interacts with STK11; this interaction may increase STK11 activity Cell membrane; Cytoplasm; Early endosome; Recycling endosome 2020-07-07T21:30:23Z 2020-07-28T02:34:39Z 0 0 0 5646 CDBP05645 Taste receptor type 2 member 41 P59536 T2R41_HUMAN false false Receptor Homo_sapiens TAS2R41 307 35895.29 G protein-coupled receptor activity Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). ["8-28", "41-61", "89-109", "130-150", "184-204", "235-255", "265-285"] 7 7q35 HGNC:18883 true hsa:259287 NP_795364.2:NM_176883.2 Expressed in subsets of taste receptor cells of the tongue and exclusively in gustducin-positive cells. Membrane 2020-07-07T21:30:23Z 2020-07-28T02:31:07Z 1 0 0 5647 CDBP05646 Apoptosis regulator BAX Q07812 BAX_HUMAN false false Enzyme Homo_sapiens BAX 221 21184.235 protein homodimerization activity Plays a role in the mitochondrial apoptotic process. Under normal conditions, BAX is largely cytosolic via constant retrotranslocation from mitochondria to the cytosol mediated by BCL2L1/Bcl-xL, which avoids accumulation of toxic BAX levels at the mitochondrial outer membrane (MOM) (PubMed:21458670). Under stress conditions, undergoes a conformation change that causes translocation to the mitochondrion membrane, leading to the release of cytochrome c that then triggers apoptosis. Promotes activation of CASP3, and thereby apoptosis. ["172-192"] 1F16;2G5B;2K7W;2LR1;3PK1;3PL7;4BD2;4BD6;4BD7;4BD8;4BDU;4S0O;4S0P;4UF2;4ZIE;4ZIF;4ZIG;4ZIH;4ZII;5W5X;5W5Z;5W60;5W61;6EB6 19 19q13.33 HGNC:959 true hsa:581 NP_001278357.1:NM_001291428.1;NP_001278360.1-NM_001291431.1;NP_004315.1-NM_004324.3;NP_620116.1-NM_138761.3;NP_620118.1-NM_138763.3;NP_620119.2-NM_138764.4;XP_016882566.1-XM_017027077.1 Expressed in a wide variety of tissues. Isoform Psi is found in glial tumors. Isoform Alpha is expressed in spleen, breast, ovary, testis, colon and brain, and at low levels in skin and lung. Isoform Sigma is expressed in spleen, breast, ovary, testis, lung, colon, brain and at low levels in skin. Isoform Alpha and isoform Sigma are expressed in pro-myelocytic leukemia, histiocytic lymphoma, Burkitt's lymphoma, T-cell lymphoma, lymphoblastic leukemia, breast adenocarcinoma, ovary adenocarcinoma, prostate carcinoma, prostate adenocarcinoma, lung carcinoma, epidermoid carcinoma, small cell lung carcinoma and colon adenocarcinoma cell lines. Homodimer. Forms higher oligomers under stress conditions. Forms heterooligomers with BAK (PubMed:29531808). Interacts with BCL2L11. Interaction with BCL2L11 promotes BAX oligomerization and association with mitochondrial membranes, with subsequent release of cytochrome c. Forms heterodimers with BCL2, BCL2L1 isoform Bcl-X(L), BCL2L2, MCL1 and A1. Interacts with SH3GLB1 and HN. Interacts with SFN and YWHAZ; the interaction occurs in the cytoplasm. Under stress conditions, JNK-mediated phosphorylation of SFN and YWHAZ, releases BAX to mitochondria. Isoform Sigma interacts with BCL2A1 and BCL2L1 isoform Bcl-X(L). Interacts with RNF144B, which regulates the ubiquitin-dependent stability of BAX. Interacts with CLU under stress conditions that cause a conformation change leading to BAX oligomerization and association with mitochondria. Does not interact with CLU in unstressed cells. Interacts with FAIM2/LFG2. Interacts with RTL10/BOP. Interacts (via a C-terminal 33 residues) with NOL3 (via CARD domain); inhibits BAX activation and translocation and consequently cytochrome c release from mitochondria. Interacts with GIMAP3/IAN4 and GIMAP5/IAN5; this interaction is increased, when cells initiate apoptosis upon IL2 withdrawal (PubMed:16509771)(Microbial infection) Interacts with adenovirus E1B 19K protein; this interaction blocks BAX oligomerization (PubMed:11462023)(Microbial infection) Interacts with human cytomegalovirus/HHV-5 protein vMIA/UL37(Microbial infection) Interacts with enterovirus protein 2B; this interaction activates BAX-induced apoptosis Mitochondrion outer membrane; Cytoplasm 2020-07-07T21:30:23Z 2020-07-28T02:34:39Z 1 0 1 5648 CDBP05647 Taste receptor type 2 member 43 P59537 T2R43_HUMAN false false Receptor Homo_sapiens TAS2R43 309 35598.52 taste receptor activity Gustducin-coupled receptor immplicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5. Activated by the sulfonyl amide sweeteners saccharin and acesulfame K. In airway epithelial cells, binding of bitter compounds increases the intracellular calcium ion concentration and stimulates ciliary beat frequency. May act as chemosensory receptors in airway epithelial cells to detect and eliminate potential noxious agents from the airways (By similarity). ["2-22", "47-67", "87-107", "127-147", "179-199", "230-250", "260-280"] 12 12p13.2 HGNC:18875 true hsa:259289 NP_795365.2:NM_176884.2 Expressed in subsets of taste receptor cells of the tongue and exclusively in gustducin-positive cells. Expressed in airway epithelia. Membrane; Cell projection; Cilium membrane 2020-07-07T21:30:23Z 2020-07-28T02:31:07Z 1 0 0 5649 CDBP05648 Free fatty acid receptor 4 Q5NUL3 FFAR4_HUMAN false false Receptor Homo_sapiens FFAR4 361 40493.84 taste receptor activity G-protein-coupled receptor for long-chain fatty acids (LCFAs) with a major role in adipogenesis, energy metabolism and inflammation. Signals via G-protein and beta-arrestin pathways (PubMed:22282525, PubMed:24742677, PubMed:27852822, PubMed:24817122, PubMed:22343897). LCFAs sensing initiates activation of phosphoinositidase C-linked G proteins GNAQ and GNA11 (G(q)/G(11)), inducing a variety of cellular responses via second messenger pathways such as intracellular calcium mobilization, modulation of cyclic adenosine monophosphate (cAMP) production, and mitogen-activated protein kinases (MAPKs) (PubMed:27852822, PubMed:22343897, PubMed:22282525, PubMed:24742677). After LCFAs binding, associates with beta-arrestin ARRB2 that acts as an adapter protein coupling the receptor to specific downstream signaling pathways, as well as mediating receptor endocytosis (PubMed:22282525, PubMed:24817122). In response to dietary fats, plays an important role in the regulation of adipocyte proliferation and differentiation (By similarity). Acts as a receptor for omega-3 polyunsaturated fatty acids (PUFAs) at primary cilium of perivascular preadipocytes, initiating an adipogenic program via cAMP and CTCF-dependent chromatin remodeling that ultimately results in transcriptional activation of adipogenic genes and cell cycle entry (By similarity). Induces differentiation of brown adipocytes probably via autocrine and endocrine functions of FGF21 hormone (By similarity). Activates brown adipocytes by initiating intracellular calcium signaling that leads to mitochondrial depolarization and fission, and overall increased mitochondrial respiration (By similarity). Consequently stimulates fatty acid uptake and oxidation in mitochondria together with UCP1-mediated thermogenic respiration, eventually reducing fat mass (By similarity). Regulates bi-potential differentiation of bone marrow mesenchymal stem cells toward osteoblasts or adipocytes likely by up-regulating distinct integrins (By similarity). In response to dietary fats regulates hormone secretion and appetite (By similarity). Stimulates GIP and GLP1 secretion from enteroendocrine cells as well as GCG secretion in pancreatic alpha cells, thereby playing a role in the regulation of blood glucose levels (By similarity). Negatively regulates glucose-induced SST secretion in pancreatic delta cells (By similarity). Mediates LCFAs inhibition of GHRL secretion, an appetite-controlling hormone (By similarity). In taste buds, contributes to sensing of dietary fatty acids by the gustatory system (By similarity). During the inflammatory response, promotes anti-inflammatory M2 macrophage differentiation in adipose tissue (By similarity). Mediates the anti-inflammatory effects of omega-3 PUFAs via inhibition of NLRP3 inflammasome activation (PubMed:23809162). In this pathway, interacts with adapter protein ARRB2 and inhibits the priming step triggered by Toll-like receptors (TLRs) at the level of TAK1 and TAB1 (By similarity). Further inhibits the activation step when ARRB2 directly associates with NLRP3, leading to inhibition of proinflammatory cytokine release (PubMed:23809162). Mediates LCFAs anti-apoptotic effects (By similarity).Receptor for LCFAs decoupled from G-protein signaling. May signal through beta-arrestin pathway. After LCFAs binding, associates with beta-arrestin ARRB2 that may act as an adapter protein coupling the receptor to specific downstream signaling pathways, as well as mediating receptor endocytosis. ["46-66", "78-98", "113-133", "157-177", "205-225", "269-289", "296-316"] 10 10q23.33 HGNC:19061 true hsa:338557 NP_001182684.1:NM_001195755.1;NP_859529.2-NM_181745.3 The predominant isoform in human tissues. Expressed in adipose tissue, pancreatic islets, lung and brain. Expressed in alpha cells of pancreatic islets (PubMed:24742677). Expressed in primary cilia of perivascular preadipocytes of white adipose tissue (at protein level) (PubMed:31761534).Abundant expression in the intestinal tract. Expressed in colonic intraepithelial neuroendocrine cells. Interacts (via C-terminus) with ARRB2 following LCFAs stimulationInteracts (via C-terminus) with ARRB2 following LCFAs stimulation Cell membrane; Endosome membrane; Lysosome membrane; Cell projection; Cilium membrane 2020-07-07T21:30:23Z 2020-07-28T02:31:07Z 1 0 0 5650 CDBP05649 Taste receptor type 2 member 5 Q9NYW4 TA2R5_HUMAN false false Receptor Homo_sapiens TAS2R5 299 34504.87 taste receptor activity Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5. ["2-22", "46-66", "83-103", "128-148", "176-196", "224-244", "254-274"] 7 7q34 HGNC:14912 true hsa:54429 NP_061853.1:NM_018980.2 Expressed in subsets of taste receptor cells of the tongue and palate epithelium and exclusively in gustducin-positive cells. Membrane 2020-07-07T21:30:23Z 2020-07-28T02:31:07Z 1 0 0 5651 CDBP05650 Neural cell adhesion molecule 1 P13591 NCAM1_HUMAN false false Receptor Homo_sapiens NCAM1 848 94573.465 virus receptor activity This protein is a cell adhesion molecule involved in neuron-neuron adhesion, neurite fasciculation, outgrowth of neurites, etc.(Microbial infection) Acts as a receptor for rabies virus. ["1-19"] ["719-739"] 2E3V;2HAZ;2VKW;2VKX;3MTR;5AEA;5LKN 11 11q23.2 HGNC:7656 true hsa:4684 NP_000606.3:NM_000615.6;NP_001070150.1-NM_001076682.3;NP_001229537.1-NM_001242608.1;NP_851996.2-NM_181351.4 (Microbial infection) Interacts with rabies virus glycoproteinInteracts with MDK Cell membrane; Secreted 2020-07-07T21:30:23Z 2020-07-28T02:32:22Z 1 0 0 5652 CDBP05651 Taste receptor type 2 member 46 P59540 T2R46_HUMAN false false Receptor Homo_sapiens TAS2R46 309 35522.27 G protein-coupled receptor activity Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). In airway epithelial cells, binding of bitter compounds increases the intracellular calcium ion concentration and stimulates ciliary beat frequency (By similarity). ["2-22", "47-67", "87-107", "127-147", "179-199", "230-250", "260-280"] 12 12p13.2 HGNC:18877 true hsa:259292 NP_795368.2:NM_176887.2 Expressed in subsets of taste receptor cells of the tongue and exclusively in gustducin-positive cells. Expressed on ciliated airway epithelium. Membrane; Cell projection; Cilium membrane 2020-07-07T21:30:23Z 2020-07-28T02:31:07Z 1 0 0 5653 CDBP05652 Taste receptor type 2 member 13 Q9NYV9 T2R13_HUMAN false false Receptor Homo_sapiens TAS2R13 303 35117.66 taste receptor activity Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5. ["8-28", "56-76", "86-106", "129-149", "185-205", "233-253", "262-282"] 12 12p13.2 HGNC:14919 true hsa:50838 NP_076409.1:NM_023920.2 Expressed in subsets of taste receptor cells of the tongue and palate epithelium and exclusively in gustducin-positive cells. Membrane 2020-07-07T21:30:23Z 2020-07-28T02:31:08Z 1 0 0 5654 CDBP05653 Caspase-9 P55211 CASP9_HUMAN true false Enzyme Homo_sapiens CASP9 416 46280.325 SH3 domain binding Involved in the activation cascade of caspases responsible for apoptosis execution. Binding of caspase-9 to Apaf-1 leads to activation of the protease which then cleaves and activates caspase-3. Promotes DNA damage-induced apoptosis in a ABL1/c-Abl-dependent manner. Proteolytically cleaves poly(ADP-ribose) polymerase (PARP).Isoform 2 lacks activity is an dominant-negative inhibitor of caspase-9. 1JXQ;1NW9;2AR9;3D9T;3V3K;3YGS;4RHW;5JUY;5WVC;5WVE 1 1p36.21 HGNC:1511 true hsa:842 NP_001220.2:NM_001229.4;NP_001264983.1-NM_001278054.1;NP_127463.2-NM_032996.3;XP_005246071.1-XM_005246014.2 Ubiquitous, with highest expression in the heart, moderate expression in liver, skeletal muscle, and pancreas. Low levels in all other tissues. Within the heart, specifically expressed in myocytes. Heterotetramer that consists of two anti-parallel arranged heterodimers, each one formed by a 35 kDa (p35) and a 10 kDa (p10) subunit. Caspase-9 and APAF1 bind to each other via their respective NH2-terminal CED-3 homologous domains in the presence of cytochrome C and ATP. Interacts (inactive form) with EFHD2. Interacts with HAX1. Interacts with BIRC2/c-IAP1, XIAP/BIRC4, BIRC5/survivin, BIRC6/bruce and BIRC7/livin. Interacts with ABL1 (via SH3 domain); the interaction is direct and increases in the response of cells to genotoxic stress and ABL1/c-Abl activation. Interacts with NleF from pathogenic E.coli 3.4.22.62 2020-07-07T21:30:23Z 2020-07-28T02:31:08Z 0 0 0 5655 CDBP05654 G-protein coupled estrogen receptor 1 Q99527 GPER1_HUMAN false false Receptor Homo_sapiens GPER1 375 42247.12 steroid hormone receptor activity G-protein coupled estrogen receptor that binds to 17-beta-estradiol (E2) with high affinity, leading to rapid and transient activation of numerous intracellular signaling pathways. Stimulates cAMP production, calcium mobilization and tyrosine kinase Src inducing the release of heparin-bound epidermal growth factor (HB-EGF) and subsequent transactivation of the epidermal growth factor receptor (EGFR), activating downstream signaling pathways such as PI3K/Akt and ERK/MAPK. Mediates pleiotropic functions among others in the cardiovascular, endocrine, reproductive, immune and central nervous systems. Has a role in cardioprotection by reducing cardiac hypertrophy and perivascular fibrosis in a RAMP3-dependent manner. Regulates arterial blood pressure by stimulating vasodilation and reducing vascular smooth muscle and microvascular endothelial cell proliferation. Plays a role in blood glucose homeostasis contributing to the insulin secretion response by pancreatic beta cells. Triggers mitochondrial apoptosis during pachytene spermatocyte differentiation. Stimulates uterine epithelial cell proliferation. Enhances uterine contractility in response to oxytocin. Contributes to thymic atrophy by inducing apoptosis. Attenuates TNF-mediated endothelial expression of leukocyte adhesion molecules. Promotes neuritogenesis in developing hippocampal neurons. Plays a role in acute neuroprotection against NMDA-induced excitotoxic neuronal death. Increases firing activity and intracellular calcium oscillations in luteinizing hormone-releasing hormone (LHRH) neurons. Inhibits early osteoblast proliferation at growth plate during skeletal development. Inhibits mature adipocyte differentiation and lipid accumulation. Involved in the recruitment of beta-arrestin 2 ARRB2 at the plasma membrane in epithelial cells. Functions also as a receptor for aldosterone mediating rapid regulation of vascular contractibility through the PI3K/ERK signaling pathway. Involved in cancer progression regulation. Stimulates cancer-associated fibroblast (CAF) proliferation by a rapid genomic response through the EGFR/ERK transduction pathway. Associated with EGFR, may act as a transcription factor activating growth regulatory genes (c-fos, cyclin D1). Promotes integrin alpha-5/beta-1 and fibronectin (FN) matrix assembly in breast cancer cells. ["63-84", "97-120", "133-153", "176-194", "221-236", "260-280", "307-327"] 7 7p22.3 HGNC:4485 true hsa:2852 NP_001035055.1:NM_001039966.1;NP_001091671.1-NM_001098201.1;NP_001496.1-NM_001505.2 Expressed in placenta, endothelial and epithelial cells, non laboring and laboring term myometrium, fibroblasts and cancer-associated fibroblasts (CAF), prostate cancer cells and invasive adenocarcinoma (at protein level). Ubiquitously expressed, but is most abundant in placenta. In brain regions, expressed as a 2.8 kb transcript in basal forebrain, frontal cortex, thalamus, hippocampus, caudate and putamen. Homodimer (Probable). Heterodimer; heterodimerizes with other G-protein-coupled receptor (GPCRs) like CRHR1, HTR1A and PAQR8. Interacts (via C-terminus tail motif) with DLG4 (via N-terminus tandem pair of PDZ domains); the interaction is direct and induces the increase of GPER1 protein levels residing at the plasma membrane surface in a estradiol-independent manner . Interacts with RAMP3. Interacts with KRT7 and KRT8. Interacts with EGFR; the interaction increases after agonist-induced stimulation in cancer-associated fibroblasts (CAF). Interacts with EGFR and ESR1 Nucleus; Cytoplasm; Perinuclear region; Cytoskeleton; Cell membrane; Cytoplasmic vesicle membrane; Golgi apparatus membrane; Endoplasmic reticulum membrane; Dendrite; Dendritic spine membrane; Axon; Synapse; Postsynaptic density; Mitochondrion membrane 2020-07-07T21:30:23Z 2020-07-28T02:31:08Z 1 0 1 5656 CDBP05655 Taste receptor type 2 member 60 P59551 T2R60_HUMAN false false Receptor Homo_sapiens TAS2R60 318 36336.135 G protein-coupled receptor activity Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). ["8-28", "41-61", "89-109", "129-149", "184-204", "235-255", "265-285"] 7 7q35 HGNC:20639 true hsa:338398 NP_803186.1:NM_177437.1 Expressed in subsets of taste receptor cells of the tongue and exclusively in gustducin-positive cells. Membrane 2020-07-07T21:30:23Z 2020-07-28T02:31:08Z 1 0 0 5657 CDBP05656 NF-kappa-B inhibitor alpha P25963 IKBA_HUMAN false false Enzyme Homo_sapiens NFKBIA 317 35608.65 ubiquitin protein ligase binding Inhibits the activity of dimeric NF-kappa-B/REL complexes by trapping REL dimers in the cytoplasm through masking of their nuclear localization signals. On cellular stimulation by immune and proinflammatory responses, becomes phosphorylated promoting ubiquitination and degradation, enabling the dimeric RELA to translocate to the nucleus and activate transcription. 1IKN;1NFI;6Y1J 14 14q13.2 HGNC:7797 true hsa:4792 NP_065390.1:NM_020529.2 Interacts with RELA; the interaction requires the nuclear import signal. Interacts with NKIRAS1 and NKIRAS2. Part of a 70-90 kDa complex at least consisting of CHUK, IKBKB, NFKBIA, RELA, ELP1 and MAP3K14. Interacts with isoform 1 and isoform 2 of RWDD3; the interaction enhances sumoylation. Interacts (when phosphorylated at the 2 serine residues in the destruction motif D-S-G-X(2,3,4)-S) with BTRC. Associates with the SCF(BTRC) complex, composed of SKP1, CUL1 and BTRC; the association is mediated via interaction with BTRC. Part of a SCF(BTRC)-like complex lacking CUL1, which is associated with RELA; RELA interacts directly with NFKBIA. Interacts with PRMT2. Interacts with PRKACA in platelets; this interaction is disrupted by thrombin and collagen. Interacts with HIF1AN. Interacts with MEFV. Interacts with DDRGK1; positively regulates NFKBIA phosphorylation and degradation(Microbial infection) Interacts with HBV protein X Cytoplasm; Nucleus 2020-07-07T21:30:23Z 2020-07-28T02:34:40Z 1 0 1 5658 CDBP05657 Taste receptor type 1 member 1 Q7RTX1 TS1R1_HUMAN false false Receptor Homo_sapiens TAS1R1 841 93072.79 taste receptor activity Putative taste receptor. TAS1R1/TAS1R3 responds to the umami taste stimulus (the taste of monosodium glutamate). Sequence differences within and between species can significantly influence the selectivity and specificity of taste responses. ["1-20"] ["568-588", "604-624", "640-660", "681-701", "726-746", "762-782", "796-816"] 1 1p36.31 HGNC:14448 true hsa:80835 NP_619642.2:NM_138697.3;NP_803884.1-NM_177540.2 Forms heterodimers with TAS1R3 Cell membrane 2020-07-07T21:30:23Z 2020-07-28T02:31:09Z 1 0 0 5659 CDBP05658 Taste receptor type 2 member 8 Q9NYW2 TA2R8_HUMAN false false Receptor Homo_sapiens TAS2R8 309 35876.93 taste receptor activity Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5. ["8-28", "51-71", "83-103", "132-152", "185-205", "240-260", "267-287"] 12 12p13.2 HGNC:14915 true hsa:50836 NP_076407.1:NM_023918.1 Expressed in subsets of taste receptor cells of the tongue and palate epithelium and exclusively in gustducin-positive cells. Membrane 2020-07-07T21:30:24Z 2020-07-28T02:31:09Z 1 0 0 5660 CDBP05659 Proteinase-activated receptor 2 P55085 PAR2_HUMAN false false Receptor Homo_sapiens F2RL1 397 44125.87 thrombin-activated receptor activity Receptor for trypsin and trypsin-like enzymes coupled to G proteins (PubMed:28445455). Its function is mediated through the activation of several signaling pathways including phospholipase C (PLC), intracellular calcium, mitogen-activated protein kinase (MAPK), I-kappaB kinase/NF-kappaB and Rho (PubMed:28445455). Can also be transactivated by cleaved F2R/PAR1. Involved in modulation of inflammatory responses and regulation of innate and adaptive immunity, and acts as a sensor for proteolytic enzymes generated during infection. Generally is promoting inflammation. Can signal synergistically with TLR4 and probably TLR2 in inflammatory responses and modulates TLR3 signaling. Has a protective role in establishing the endothelial barrier; the activity involves coagulation factor X. Regulates endothelial cell barrier integrity during neutrophil extravasation, probably following proteolytic cleavage by PRTN3 (PubMed:23202369). Proposed to have a bronchoprotective role in airway epithelium, but also shown to compromise the airway epithelial barrier by interrupting E-cadherin adhesion (PubMed:10086357). Involved in the regulation of vascular tone; activation results in hypotension presumably mediated by vasodilation. Associates with a subset of G proteins alpha subunits such as GNAQ, GNA11, GNA14, GNA12 and GNA13, but probably not with G(o) alpha, G(i) subunit alpha-1 and G(i) subunit alpha-2. However, according to PubMed:21627585 can signal through G(i) subunit alpha. Believed to be a class B receptor which internalizes as a complex with arrestin and traffic with it to endosomal vesicles, presumably as desensitized receptor, for extended periods of time. Mediates inhibition of TNF-alpha stimulated JNK phosphorylation via coupling to GNAQ and GNA11; the function involves dissociation of RIPK1 and TRADD from TNFR1. Mediates phosphorylation of nuclear factor NF-kappa-B RELA subunit at 'Ser-536'; the function involves IKBKB and is predominantly independent of G proteins. Involved in cellular migration. Involved in cytoskeletal rearrangement and chemotaxis through beta-arrestin-promoted scaffolds; the function is independent of GNAQ and GNA11 and involves promotion of cofilin dephosphorylation and actin filament severing. Induces redistribution of COPS5 from the plasma membrane to the cytosol and activation of the JNK cascade is mediated by COPS5. Involved in the recruitment of leukocytes to the sites of inflammation and is the major PAR receptor capable of modulating eosinophil function such as proinflammatory cytokine secretion, superoxide production and degranulation. During inflammation promotes dendritic cell maturation, trafficking to the lymph nodes and subsequent T-cell activation. Involved in antimicrobial response of innate immune cells; activation enhances phagocytosis of Gram-positive and killing of Gram-negative bacteria. Acts synergistically with interferon-gamma in enhancing antiviral responses. Implicated in a number of acute and chronic inflammatory diseases such as of the joints, lungs, brain, gastrointestinal tract, periodontium, skin, and vascular systems, and in autoimmune disorders. ["1-25"] ["72-101", "109-137", "150-177", "184-211", "236-269", "278-317", "324-347"] 5NDD;5NDZ;5NJ6 5 5q13.3 HGNC:3538 true hsa:2150 NP_005233.3:NM_005242.5 Widely expressed in tissues with especially high levels in pancreas, liver, kidney, small intestine, and colon (PubMed:7556175, PubMed:8615752). Moderate expression is detected in many organs, but none in brain or skeletal muscle (PubMed:7556175, PubMed:8615752). Expressed in endothelial cells (PubMed:23202369). Interacts with TLR4, COPS5 and TMED2. Interacts with GNAQ, GNA11, GNA12, GNA13 and GNA14 Cell membrane 2020-07-07T21:30:24Z 2020-07-28T02:31:09Z 1 0 1 5661 CDBP05660 Taste receptor type 2 member 14 Q9NYV8 T2R14_HUMAN false false Receptor Homo_sapiens TAS2R14 317 36159.73 taste receptor activity Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). ["8-28", "56-76", "88-108", "130-150", "185-205", "233-253", "262-282"] 12 12p13.2 HGNC:14920 true hsa:50840 NP_076411.1:NM_023922.1 Expressed in subsets of taste receptor cells of the tongue and palate epithelium and exclusively in gustducin-positive cells. Expressed in testis (PubMed:16720576). Membrane 2020-07-07T21:30:24Z 2020-07-28T02:31:09Z 1 0 0