| 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 |
| glucosylceramide catabolic process |
| negative regulation of interleukin-6 production |
| carbohydrate metabolic process |
| cell death |
| 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 |
| Cellular Component |
| lysosomal lumen |
| lysosomal membrane |
| Component |
| organelle |
| membrane-bounded organelle |
| intracellular membrane-bounded organelle |
| vacuole |
| lytic vacuole |
| lysosome |
| Function |
| catalytic activity |
| hydrolase activity |
| hydrolase activity, acting on glycosyl bonds |
| hydrolase activity, hydrolyzing o-glycosyl compounds |
| glucosylceramidase activity |
| ion binding |
| cation binding |
| binding |
| Molecular Function |
| cation binding |
| receptor binding |
| glucosylceramidase activity |
| Process |
| vacuole organization |
| lysosome organization |
| lipid metabolic process |
| cellular lipid metabolic 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 |
|
| 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 |