| Identification |
|---|
| HMDB Protein ID
| CDBP01550 |
| Secondary Accession Numbers
| Not Available |
| Name
| Exostosin-1 |
| Description
| Not Available |
| Synonyms
|
- Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
- Multiple exostoses protein 1
- Putative tumor suppressor protein EXT1
|
| Gene Name
| EXT1 |
| Protein Type
| Enzyme |
| Biological Properties |
|---|
| General Function
| Involved in transferase activity, transferring hexosyl groups |
| Specific Function
| 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.
|
| GO Classification
|
| Biological Process |
| ossification |
| gastrulation |
| signal transduction |
| glycosaminoglycan biosynthetic process |
| protein glycosylation |
| heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process |
| skeletal system development |
| axon guidance |
| embryonic skeletal joint development |
| endoderm development |
| mesoderm development |
| olfactory bulb development |
| Cellular Component |
| integral to endoplasmic reticulum membrane |
| Golgi membrane |
| Component |
| membrane |
| cell part |
| membrane part |
| intrinsic to membrane |
| intrinsic to organelle membrane |
| intrinsic to endoplasmic reticulum membrane |
| Function |
| catalytic activity |
| transferase activity |
| transferase activity, transferring hexosyl groups |
| transferase activity, transferring glycosyl groups |
| Molecular Function |
| protein homodimerization activity |
| glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity |
| heparan sulfate N-acetylglucosaminyltransferase activity |
| N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity |
|
| Cellular Location
|
- Golgi apparatus membrane
- Endoplasmic reticulum membrane
- Single-pass type II membrane protein
- Single-pass type II membrane protein
|
| Pathways
|
| Name | SMPDB/Pathwhiz | KEGG | | protein glycosylation | Not Available | Not Available | | Glycosaminoglycan biosynthesis - heparan sulfate / heparin | Not Available |  |
|
| Gene Properties |
|---|
| Chromosome Location
| 8 |
| Locus
| 8q24.11 |
| SNPs
| EXT1 |
| Gene Sequence
|
>2241 bp
ATGCAGGCCAAAAAACGCTATTTCATCCTGCTCTCAGCTGGCTCTTGTCTCGCCCTTTTG
TTTTATTTCGGAGGCTTGCAGTTTAGGGCATCGAGGAGCCACAGCCGGAGAGAAGAACAC
AGCGGTAGGAATGGCTTGCACCACCCCAGTCCGGATCATTTCTGGCCCCGCTTCCCGGAG
CCTCTGCGCCCCTTCGTTCCTTGGGATCAATTGGAAAACGAGGATTCCAGCGTGCACATT
TCCCCCCGGCAGAAGCGAGATGCCAACTCCAGCATCTACAAAGGCAAGAAGTGCCGCATG
GAGTCCTGCTTCGATTTCACCCTTTGCAAGAAAAACGGCTTCAAAGTCTACGTATACCCA
CAGCAAAAAGGGGAGAAAATCGCCGAAAGTTACCAAAACATTCTAGCGGCCATCGAGGGC
TCCAGGTTCTACACCTCGGACCCCAGCCAGGCGTGCCTCTTTGTCCTGAGTCTGGATACT
TTAGACAGAGACCAGTTGTCACCTCAGTATGTGCACAATTTGAGATCCAAAGTGCAGAGT
CTCCACTTGTGGAACAATGGTAGGAATCATTTAATTTTTAATTTATATTCCGGCACTTGG
CCTGACTACACCGAGGACGTGGGGTTTGACATCGGCCAGGCGATGCTGGCCAAAGCCAGC
ATCAGTACTGAAAACTTCCGACCCAACTTTGATGTTTCTATTCCCCTCTTTTCTAAGGAT
CATCCCAGGACAGGAGGGGAGAGGGGGTTTTTGAAGTTCAACACCATCCCTCCTCTCAGG
AAGTACATGCTGGTATTCAAGGGGAAGAGGTACCTGACAGGGATAGGATCAGACACCAGG
AATGCCTTATATCACGTCCATAACGGGGAGGACGTTGTGCTCCTCACCACCTGCAAGCAT
GGCAAAGACTGGCAAAAGCACAAGGATTCTCGCTGTGACAGAGACAACACCGAGTATGAG
AAGTATGATTATCGGGAAATGCTGCACAATGCCACTTTCTGTCTGGTTCCTCGTGGTCGC
AGGCTTGGGTCCTTCAGATTCCTGGAGGCTTTGCAGGCTGCCTGCGTCCCTGTGATGCTC
AGCAATGGATGGGAGTTGCCATTCTCTGAAGTGATTAATTGGAACCAAGCTGCCGTCATA
GGCGATGAGAGATTGTTATTACAGATTCCTTCTACAATCAGGTCTATTCATCAGGATAAA
ATCCTAGCACTTAGACAGCAGACACAATTCTTGTGGGAGGCTTATTTTTCTTCAGTTGAG
AAGATTGTATTAACTACACTAGAGATTATTCAGGACAGAATATTCAAGCACATATCACGT
AACAGTTTAATATGGAACAAACATCCTGGAGGATTGTTCGTACTACCACAGTATTCATCT
TATCTGGGAGATTTTCCTTACTACTATGCTAATTTAGGTTTAAAGCCCCCCTCCAAATTC
ACTGCAGTCATCCATGCGGTGACCCCCCTGGTCTCTCAGTCCCAGCCAGTGTTGAAGCTT
CTCGTGGCTGCAGCCAAGTCCCAGTACTGTGCCCAGATCATAGTTCTATGGAATTGTGAC
AAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAA
GGAGAGAGCAAGGTTATGAGCAGCCGTTTTCTGCCCTACGACAACATCATCACAGACGCC
GTGCTCAGCCTTGACGAGGACACGGTGCTTTCAACAACAGAGGTGGATTTCGCCTTCACA
GTGTGGCAGAGCTTCCCTGAGAGGATTGTGGGGTACCCCGCGCGCAGCCACTTCTGGGAT
AACTCTAAGGAGCGGTGGGGATACACATCAAAGTGGACGAACGACTACTCCATGGTGTTG
ACAGGAGCTGCTATTTACCACAAATATTATCACTACCTATACTCCCATTACCTGCCAGCC
AGCCTGAAGAACATGGTGGACCAATTGGCCAATTGTGAGGACATTCTCATGAACTTCCTG
GTGTCTGCTGTGACAAAATTGCCTCCAATCAAAGTGACCCAGAAGAAGCAGTATAAGGAG
ACAATGATGGGACAGACTTCTCGGGCTTCCCGTTGGGCTGACCCTGACCACTTTGCCCAG
CGACAGAGCTGCATGAATACGTTTGCCAGCTGGTTTGGCTACATGCCGCTGATCCACTCT
CAGATGAGGCTCGACCCCGTCCTCTTTAAAGACCAGGTCTCTATTTTGAGGAAGAAATAC
CGAGACATTGAGCGACTTTGA
|
| Protein Properties |
|---|
| Number of Residues
| 746 |
| Molecular Weight
| 86254.015 |
| Theoretical pI
| 9.036 |
| Pfam Domain Function
|
|
| Signals
|
Not Available
|
|
Transmembrane Regions
|
Not Available
|
| Protein Sequence
|
>Exostosin-1
MQAKKRYFILLSAGSCLALLFYFGGLQFRASRSHSRREEHSGRNGLHHPSPDHFWPRFPD
ALRPFVPWDQLENEDSSVHISPRQKRDANSSIYKGKKCRMESCFDFTLCKKNGFKVYVYP
QQKGEKIAESYQNILAAIEGSRFYTSDPSQACLFVLSLDTLDRDQLSPQYVHNLRSKVQS
LHLWNNGRNHLIFNLYSGTWPDYTEDVGFDIGQAMLAKASISTENFRPNFDVSIPLFSKD
HPRTGGERGFLKFNTIPPLRKYMLVFKGKRYLTGIGSDTRNALYHVHNGEDVVLLTTCKH
GKDWQKHKDSRCDRDNTEYEKYDYREMLHNATFCLVPRGRRLGSFRFLEALQAACVPVML
SNGWELPFSEVINWNQAAVIGDERLLLQIPSTIRSIHQDKILALRQQTQFLWEAYFSSVE
KIVLTTLEIIQDRIFKHISRNSLIWNKHPGGLFVLPQYSSYLGDFPYYYANLGLKPPSKF
TAVIHAVTPLVSQSQPVLKLLVAAAKSQYCAQIIVLWNCDKPLPAKHRWPATAVPVVVIE
GESKVMSSRFLPYDNIITDAVLSLDEDTVLSTTEVDFAFTVWQSFPERIVGYPARSHFWD
NSKERWGYTSKWTNDYSMVLTGAAIYHKYYHYLYSHYLPASLKNMVDQLANCEDILMNFL
VSAVTKLPPIKVTQKKQYKETMMGQTSRASRWADPDHFAQRQSCMNTFASWFGYMPLIHS
QMRLDPVLFKDQVSILRKKYRDIERL
|
| External Links |
|---|
| GenBank ID Protein
| 1168162 |
| UniProtKB/Swiss-Prot ID
| Q16394 |
| UniProtKB/Swiss-Prot Entry Name
| EXT1_HUMAN |
| PDB IDs
|
Not Available |
| GenBank Gene ID
| S79639 |
| GeneCard ID
| EXT1 |
| GenAtlas ID
| EXT1 |
| HGNC ID
| HGNC:3512 |
| References |
|---|
| General References
| Not Available |