| Identification |
|---|
| BMDB Protein ID
| BMDBP00131 |
| Secondary Accession Numbers
| None |
| Name
| Lysosomal acid glucosylceramidase |
| Synonyms
|
Not Available
|
| Gene Name
| GBA |
| Protein Type
| Enzyme |
| Biological Properties |
|---|
| General Function
| Involved in cation binding |
| Specific Function
| Glucosylceramidase that catalyzes, within the lysosomal compartment, the hydrolysis of glucosylceramide/GlcCer into free ceramide and glucose. Thereby, plays a central role in the degradation of complex lipids and the turnover of cellular membranes. Through the production of ceramides, participates to the PKC-activated salvage pathway of ceramide formation. Also plays a role in cholesterol metabolism. May either catalyze the glucosylation of cholesterol, through a transglucosylation reaction that transfers glucose from glucosylceramide to cholesterol. The short chain saturated C8:0-GlcCer and the mono-unsaturated C18:0-GlcCer being the most effective glucose donors for that transglucosylation reaction. Under specific conditions, may alternatively catalyze the reverse reaction, transferring glucose from cholesteryl-beta-D-glucoside to ceramide. Finally, may also hydrolyze cholesteryl-beta-D-glucoside to produce D-glucose and cholesterol. |
| Pathways
|
|
| Reactions
| Not Available |
| GO Classification
|
Not Available
|
| Cellular Location
|
Not Available
|
| Gene Properties |
|---|
| Chromosome Location
| 3 |
| Locus
| Not Available |
| SNPs
| GBA |
| Gene Sequence
|
>1611 bp
ATGGAGCTTTCAAGTCCTTCCAGAGAGGAGTATCCTATGCCTCGGGGCAGAGTAGGAATC
ATGGCTGCCAGCCTCATGGGATTACTTCTACTTCATACAGTGTCGTGGGTATCAGGTGCC
CGCCCCTGCAGCCCTAAAAGCTTTGGCTACAGCTCGGTGGTGTGTGTCTGCAATGGTACA
TACTGTGATTCTCTGGACCCCTTGACCCTGCCTGACCCTGGCACCTTCAGCCGCTTTGAG
AGCACTCGCAGCGGGCGCCGAATGGAGCTGAGTCTGGGGACCATCCAGGCCAATCGCACA
GGCACAGGGTTGCTGTTGACCTTGCAGCCAGATCAGAAATTCCAGAAAGTGAAGGGATTT
GGAGGGGCCATGACGGATGCTGCTGCCCTCAACATCCTTGCCCTGTCACCTGCTGCACGG
AATTTGCTACTCAAATCATACTTCTCCGAAGAAGGAATTGAATACAACATCATCCGGGTC
CCCATGGCCAGCTGTGACTTCTCCATCCGCACCTATACCTATGACGACAGCCCTGATGAC
TTCCAGCTGCTCAACTTCAGCCTTCCAGAGGAAGATGTCAAGCTCAAGATACCACTGATT
CACCAAGCTCTGGAGTTGGCCAACCGCTCTGTCTCACTCTTCGCCAGTCCCTGGACATCA
CCCACTTGGCTCAAGACTAATGGGGCTGTGAATGGGAAGGGAACACTCAAGGGTCAAGCA
GGGGATCTCTACCACAAGACCTGGGCCAGATACTTTGTCAAGTTCCTGGATGCCTACGCG
GAGCACAAGTTACGGTTCTGGGCAGTGACAGCCGAGAACGAGCCTACTGCAGGGCTCCTT
ACCGGGTACCCCTTCCAATGCTTGGGTTTCACTCCTGAGCACCAGCGAGACTTCATCGCC
CGTGACCTGGGTCCCATCCTCGCCAACAGCACACACCGCGACGTCCGACTGTTGATGCTG
GATGACCAGCGCTTACTGTTGCCTCGCTGGGCCCAGGTGGTGCTGGCAGACCCAGAAGCA
GCTAAGTATGTTCATGGCATTGCTGTACATTGGTACCTGGACTTCCTGGCTCCAGCAAAA
GCCACCCTGGGGGAGACGCACCGCCTGTTCCCCAACACCATGCTCTTTGCCTCAGAGGCC
TGTGTGGGCTCCAAGTTCTGGGAGCAGAGTGTGCGGCTGGGCTCCTGGGATCGAGGGATG
CGGTACAGCCACAGTATCATCACAAACCTCCTCTACCATGTGGTCGGCTGGACCGACTGG
AACCTCGCCCTAAATCCTGAAGGGGGACCCAACTGGGTGCGCAATTTTGTTGATAGCCCC
ATCATTGTGGATATCGCCAAGGACACATTTTACAAGCAGCCTATGTTTTACCACCTTGGC
CACTTCAGCAAGTTCATTCCTGAGGGCTCGCAGAGAGTGGGGCTGGTTGCCAGTAAGAAG
AGCGACTTGGACACGGTGGCACTGTTACGTCCTGACGGCTCTGCGGTTGCGGTCGTGCTG
AACCGCTCCTCTAAGGACGTGCCTCTCACCATCAAGGATCCCGCCGTGGGCTTCATGGAA
ACTGTCTCACCTGGCTACTCCATTCACACCTACCTGTGGCGTCGCCAGTGA
|
| Protein Properties |
|---|
| Number of Residues
| 536 |
| Molecular Weight
| 59855.0 |
| Theoretical pI
| 8.08 |
| Pfam Domain Function
|
Not Available |
| Signals
|
|
|
Transmembrane Regions
|
Not Available
|
| Protein Sequence
|
>Glucosylceramidase
MELSSPSREEYPMPRGRVGIMAASLMGLLLLHTVSWVSGARPCSPKSFGYSSVVCVCNGT
YCDSLDPLTLPDPGTFSRFESTRSGRRMELSLGTIQANRTGTGLLLTLQPDQKFQKVKGF
GGAMTDAAALNILALSPAARNLLLKSYFSEEGIEYNIIRVPMASCDFSIRTYTYDDSPDD
FQLLNFSLPEEDVKLKIPLIHQALELANRSVSLFASPWTSPTWLKTNGAVNGKGTLKGQA
GDLYHKTWARYFVKFLDAYAEHKLRFWAVTAENEPTAGLLTGYPFQCLGFTPEHQRDFIA
RDLGPILANSTHRDVRLLMLDDQRLLLPRWAQVVLADPEAAKYVHGIAVHWYLDFLAPAK
ATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMRYSHSIITNLLYHVVGWTDW
NLALNPEGGPNWVRNFVDSPIIVDIAKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASKK
SDLDTVALLRPDGSAVAVVLNRSSKDVPLTIKDPAVGFMETVSPGYSIHTYLWRRQ
|
| External Links |
|---|
| GenBank ID Protein
| AAI12824.1 |
| UniProtKB/Swiss-Prot ID
| Q2KHZ8 |
| UniProtKB/Swiss-Prot Entry Name
| GLCM_BOVIN |
| PDB IDs
|
Not Available |
| GenBank Gene ID
| BC112823 |
| GeneCard ID
| GBA |
| GenAtlas ID
| Not Available |
| HGNC ID
| Not Available |
| References |
|---|
| General References
| Not Available |
