Gene/Proteome Database (LMPD)
LMPD ID
LMP002458
Gene ID
Species
Mus musculus (Mouse)
Gene Name
galactosylceramidase
Gene Symbol
Synonyms
2310068B06Rik; A930008M05Rik; AW212969; AW413532; Gacy; twi; twitcher
Alternate Names
galactocerebrosidase; GALCERase; galactocerebroside beta-galactosidase; galactosylceramide beta-galactosidase
Chromosome
12
Map Location
12 E|12 49.83 cM
EC Number
3.2.1.46
Proteins
| galactocerebrosidase precursor | |
|---|---|
| Refseq ID | NP_032105 |
| Protein GI | 93102411 |
| UniProt ID | P54818 |
| mRNA ID | NM_008079 |
| Length | 684 |
| RefSeq Status | VALIDATED |
| MANSQPKASQQRQAKVMTAAAGSASRVAVPLLLCALLVPGGAYVLDDSDGLGREFDGIGAVSGGGATSRLLVNYPEPYRSEILDYLFKPNFGASLHILKVEIGGDGQTTDGTEPSHMHYELDENYFRGYEWWLMKEAKKRNPDIILMGLPWSFPGWLGKGFSWPYVNLQLTAYYVVRWILGAKHYHDLDIDYIGIWNERPFDANYIKELRKMLDYQGLQRVRIIASDNLWEPISSSLLLDQELWKVVDVIGAHYPGTYTVWNAKMSGKKLWSSEDFSTINSNVGAGCWSRILNQNYINGNMTSTIAWNLVASYYEELPYGRSGLMTAQEPWSGHYVVASPIWVSAHTTQFTQPGWYYLKTVGHLEKGGSYVALTDGLGNLTIIIETMSHQHSMCIRPYLPYYNVSHQLATFTLKGSLREIQELQVWYTKLGTPQQRLHFKQLDTLWLLDGSGSFTLELEEDEIFTLTTLTTGRKGSYPPPPSSKPFPTNYKDDFNVEYPLFSEAPNFADQTGVFEYYMNNEDREHRFTLRQVLNQRPITWAADASSTISVIGDHHWTNMTVQCDVYIETPRSGGVFIAGRVNKGGILIRSATGVFFWIFANGSYRVTADLGGWITYASGHADVTAKRWYTLTLGIKGYFAFGMLNGTILWKNVRVKYPGHGWAAIGTHTFEFAQFDNFRVEAAR | |
| sig_peptide: 1..42 inference: non-experimental evidence, no additional details recorded note: By similarity; propagated from UniProtKB/Swiss-Prot (P54818.2) calculated_mol_wt: 4164 peptide sequence: MANSQPKASQQRQAKVMTAAAGSASRVAVPLLLCALLVPGGA mat_peptide: 43..684 product: Galactocerebrosidase experiment: experimental evidence, no additional details recorded note: propagated from UniProtKB/Swiss-Prot (P54818.2) calculated_mol_wt: 73111 peptide sequence: YVLDDSDGLGREFDGIGAVSGGGATSRLLVNYPEPYRSEILDYLFKPNFGASLHILKVEIGGDGQTTDGTEPSHMHYELDENYFRGYEWWLMKEAKKRNPDIILMGLPWSFPGWLGKGFSWPYVNLQLTAYYVVRWILGAKHYHDLDIDYIGIWNERPFDANYIKELRKMLDYQGLQRVRIIASDNLWEPISSSLLLDQELWKVVDVIGAHYPGTYTVWNAKMSGKKLWSSEDFSTINSNVGAGCWSRILNQNYINGNMTSTIAWNLVASYYEELPYGRSGLMTAQEPWSGHYVVASPIWVSAHTTQFTQPGWYYLKTVGHLEKGGSYVALTDGLGNLTIIIETMSHQHSMCIRPYLPYYNVSHQLATFTLKGSLREIQELQVWYTKLGTPQQRLHFKQLDTLWLLDGSGSFTLELEEDEIFTLTTLTTGRKGSYPPPPSSKPFPTNYKDDFNVEYPLFSEAPNFADQTGVFEYYMNNEDREHRFTLRQVLNQRPITWAADASSTISVIGDHHWTNMTVQCDVYIETPRSGGVFIAGRVNKGGILIRSATGVFFWIFANGSYRVTADLGGWITYASGHADVTAKRWYTLTLGIKGYFAFGMLNGTILWKNVRVKYPGHGWAAIGTHTFEFAQFDNFRVEAAR | |
Gene Information
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005764 | TAS:MGI | C | lysosome |
| GO:0005739 | IDA:MGI | C | mitochondrion |
| GO:0004336 | IDA:UniProtKB | F | galactosylceramidase activity |
| GO:0005975 | IEA:InterPro | P | carbohydrate metabolic process |
| GO:0006683 | IMP:UniProtKB | P | galactosylceramide catabolic process |
KEGG Pathway Links
| KEGG Pathway ID | Description |
|---|---|
| mmu04142 | Lysosome |
| mmu01100 | Metabolic pathways |
| mmu00600 | Sphingolipid metabolism |
REACTOME Pathway Links
| REACTOME Pathway ID | Description |
|---|---|
| 5893995 | Glycosphingolipid metabolism |
Domain Information
UniProt Annotations
Entry Information
Comments
| Comment Type | Description |
|---|---|
| Catalytic Activity | D-galactosyl-N-acylsphingosine + H(2)O = D- galactose + N-acylsphingosine. {ECO:0000269|PubMed:8769874}. |
| Caution | It is uncertain whether Met-1 or Met-17 is the initiator. {ECO:0000305}. |
| Disease | Note=Defects in Galc are the cause of the 'twitcher' phenotype; an autosomal recessive leukodystrophy similar to the human disease (Krabbe disease). This deficiency results in the insufficient catabolism of several galactolipids that are important in the production of normal myelin. |
| Function | 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. {ECO:0000269|PubMed:8769874}. |
| Sequence Caution | Sequence=AAB71823.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH86671.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA07560.1; Type=Erroneous initiation; Evidence={ECO:0000305}; |
| Similarity | Belongs to the glycosyl hydrolase 59 family. {ECO:0000305}. |
| Subcellular Location | Lysosome {ECO:0000250}. |
| Tissue Specificity | Detected in brain and kidney. {ECO:0000269|PubMed:8769874}. |
Identical and Related Proteins
Unique RefSeq proteins for LMP002458 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 93102411 | RefSeq | NP_032105 | 684 | galactocerebrosidase precursor |
Identical Sequences to LMP002458 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:93102411 | DBBJ | BAE32809.1 | 684 | unnamed protein product [Mus musculus] |
| GI:93102411 | GenBank | EDL18937.1 | 684 | galactosylceramidase [Mus musculus] |
| GI:93102411 | SwissProt | P54818.2 | 684 | RecName: Full=Galactocerebrosidase; Short=GALCERase; AltName: Full=Galactocerebroside beta-galactosidase; AltName: Full=Galactosylceramidase; AltName: Full=Galactosylceramide beta-galactosidase; Flags: Precursor [Mus musculus] |
Related Sequences to LMP002458 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:93102411 | DBBJ | BAA07560.1 | 668 | murine galactocerebrosidase [Mus musculus domesticus] |
| GI:93102411 | GenBank | AAB71823.1 | 668 | galactocerebrosidase [Mus musculus] |
| GI:93102411 | GenBank | AAH86671.1 | 668 | Galactosylceramidase [Mus musculus] |
| GI:93102411 | PDB | 4CCD | 654 | Chain A, Structure Of Mouse Galactocerebrosidase With D-galactal: Enzyme-intermediate Complex |
| GI:93102411 | PDB | 4CCE | 654 | Chain A, Structure Of Mouse Galactocerebrosidase With Galactose: Enzyme-product Complex |
| GI:93102411 | PRF | - | 668 | galactocerebrosidase [Mus musculus] |