Identification |
HMDB Protein ID
| CDBP01612 |
Secondary Accession Numbers
| Not Available |
Name
| Glucosylceramidase |
Description
| Not Available |
Synonyms
|
- Acid beta-glucosidase
- Alglucerase
- Beta-glucocerebrosidase
- D-glucosyl-N-acylsphingosine glucohydrolase
- Imiglucerase
|
Gene Name
| GBA |
Protein Type
| Enzyme |
Biological Properties |
General Function
| Involved in catalytic activity |
Specific Function
| Not Available |
GO Classification
|
Biological Process |
lysosome organization |
ceramide biosynthetic process |
phospholipid metabolic process |
negative regulation of MAP kinase activity |
positive regulation of protein dephosphorylation |
sphingosine biosynthetic process |
termination of signal transduction |
negative regulation of inflammatory response |
cellular response to tumor necrosis factor |
glucosylceramide catabolic process |
negative regulation of interleukin-6 production |
carbohydrate metabolic process |
cell death |
Cellular Component |
lysosomal lumen |
lysosomal membrane |
Component |
organelle |
membrane-bounded organelle |
intracellular membrane-bounded organelle |
vacuole |
lytic vacuole |
lysosome |
Function |
glucosylceramidase activity |
ion binding |
cation binding |
binding |
catalytic activity |
hydrolase activity |
hydrolase activity, acting on glycosyl bonds |
hydrolase activity, hydrolyzing o-glycosyl compounds |
Molecular Function |
cation binding |
receptor binding |
glucosylceramidase activity |
Process |
metabolic process |
sphingolipid metabolic process |
membrane lipid metabolic process |
primary metabolic process |
carbohydrate metabolic process |
cellular process |
cellular component organization at cellular level |
organelle organization |
vacuole organization |
lysosome organization |
lipid metabolic process |
cellular lipid metabolic process |
|
Cellular Location
|
- Peripheral membrane protein
- Lysosome membrane
- Lumenal side
|
Pathways
|
Name | SMPDB/Pathwhiz | KEGG | Other glycan degradation | Not Available | | Lysosome | Not Available | | Sphingolipid Metabolism | | | Gaucher Disease | | Not Available | Globoid Cell Leukodystrophy | | Not Available |
|
Gene Properties |
Chromosome Location
| 1 |
Locus
| 1q21 |
SNPs
| GBA |
Gene Sequence
|
>1611 bp
ATGGAGTTTTCAAGTCCTTCCAGAGAGGAATGTCCCAAGCCTTTGAGTAGGGTAAGCATC
ATGGCTGGCAGCCTCACAGGATTGCTTCTACTTCAGGCAGTGTCGTGGGCATCAGGTGCC
CGCCCCTGCATCCCTAAAAGCTTCGGCTACAGCTCGGTGGTGTGTGTCTGCAATGCCACA
TACTGTGACTCCTTTGACCCCCCGACCTTTCCTGCCCTTGGTACCTTCAGCCGCTATGAG
AGTACACGCAGTGGGCGACGGATGGAGCTGAGTATGGGGCCCATCCAGGCTAATCACACG
GGCACAGGCCTGCTACTGACCCTGCAGCCAGAACAGAAGTTCCAGAAAGTGAAGGGATTT
GGAGGGGCCATGACAGATGCTGCTGCTCTCAACATCCTTGCCCTGTCACCCCCTGCCCAA
AATTTGCTACTTAAATCGTACTTCTCTGAAGAAGGAATCGGATATAACATCATCCGGGTA
CCCATGGCCAGCTGTGACTTCTCCATCCGCACCTACACCTATGCAGACACCCCTGATGAT
TTCCAGTTGCACAACTTCAGCCTCCCAGAGGAAGATACCAAGCTCAAGATACCCCTGATT
CACCGAGCCCTGCAGTTGGCCCAGCGTCCCGTTTCACTCCTTGCCAGCCCCTGGACATCA
CCCACTTGGCTCAAGACCAATGGAGCGGTGAATGGGAAGGGGTCACTCAAGGGACAGCCC
GGAGACATCTACCACCAGACCTGGGCCAGATACTTTGTGAAGTTCCTGGATGCCTATGCT
GAGCACAAGTTACAGTTCTGGGCAGTGACAGCTGAAAATGAGCCTTCTGCTGGGCTGTTG
AGTGGATACCCCTTCCAGTGCCTGGGCTTCACCCCTGAACATCAGCGAGACTTCATTGCC
CGTGACCTAGGTCCTACCCTCGCCAACAGTACTCACCACAATGTCCGCCTACTCATGCTG
GATGACCAACGCTTGCTGCTGCCCCACTGGGCAAAGGTGGTACTGACAGACCCAGAAGCA
GCTAAATATGTTCATGGCATTGCTGTACATTGGTACCTGGACTTTCTGGCTCCAGCCAAA
GCCACCCTAGGGGAGACACACCGCCTGTTCCCCAACACCATGCTCTTTGCCTCAGAGGCC
TGTGTGGGCTCCAAGTTCTGGGAGCAGAGTGTGCGGCTAGGCTCCTGGGATCGAGGGATG
CAGTACAGCCACAGCATCATCACGAACCTCCTGTACCATGTGGTCGGCTGGACCGACTGG
AACCTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCCC
ATCATTGTAGACATCACCAAGGACACGTTTTACAAACAGCCCATGTTCTACCACCTTGGC
CACTTCAGCAAGTTCATTCCTGAGGGCTCCCAGAGAGTGGGGCTGGTTGCCAGTCAGAAG
AACGACCTGGACGCAGTGGCACTGATGCATCCCGATGGCTCTGCTGTTGTGGTCGTGCTA
AACCGCTCCTCTAAGGATGTGCCTCTTACCATCAAGGATCCTGCTGTGGGCTTCCTGGAG
ACAATCTCACCTGGCTACTCCATTCACACCTACCTGTGGCGTCGCCAGTGA
|
Protein Properties |
Number of Residues
| 536 |
Molecular Weight
| 59715.745 |
Theoretical pI
| 7.601 |
Pfam Domain Function
|
|
Signals
|
Not Available
|
Transmembrane Regions
|
Not Available
|
Protein Sequence
|
>Glucosylceramidase
MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNAT
YCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGF
GGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDD
FQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQP
GDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIA
RDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAK
ATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDW
NLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQK
NDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ
|
External Links |
GenBank ID Protein
| 2564914 |
UniProtKB/Swiss-Prot ID
| P04062 |
UniProtKB/Swiss-Prot Entry Name
| GLCM_HUMAN |
PDB IDs
|
|
GenBank Gene ID
| AF023268 |
GeneCard ID
| GBA |
GenAtlas ID
| GBA |
HGNC ID
| HGNC:4177 |
References |
General References
| Not Available |