| Identification |
| HMDB Protein ID
| CDBP00309 |
| Secondary Accession Numbers
| Not Available |
| Name
| Galactocerebrosidase |
| Description
| Not Available |
| Synonyms
|
- GALCERase
- Galactocerebroside beta-galactosidase
- Galactosylceramidase
- Galactosylceramide beta-galactosidase
|
| Gene Name
| GALC |
| Protein Type
| Enzyme |
| Biological Properties |
| General Function
| Involved in galactosylceramidase activity |
| Specific 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.
|
| GO Classification
|
| Biological Process |
| small molecule metabolic process |
| phospholipid metabolic process |
| galactosylceramide catabolic process |
| carbohydrate metabolic process |
| glycosphingolipid metabolic process |
| Cellular Component |
| mitochondrion |
| lysosomal lumen |
| Function |
| ion binding |
| cation binding |
| binding |
| catalytic activity |
| hydrolase activity |
| hydrolase activity, acting on glycosyl bonds |
| hydrolase activity, hydrolyzing o-glycosyl compounds |
| galactosylceramidase activity |
| Molecular Function |
| cation binding |
| galactosylceramidase activity |
| Process |
| primary metabolic process |
| carbohydrate metabolic process |
| lipid metabolic process |
| cellular lipid metabolic process |
| metabolic process |
| membrane lipid metabolic process |
| glycolipid metabolic process |
| glycosylceramide metabolic process |
| galactosylceramide metabolic process |
| galactosylceramide catabolic process |
|
| Cellular Location
|
- Lysosome
|
| Pathways
|
| Name | SMPDB/Pathwhiz | KEGG | | Lysosome | Not Available |  | | Sphingolipid Metabolism |    |  | | Gaucher Disease |    | Not Available | | Globoid Cell Leukodystrophy |    | Not Available | | Metachromatic Leukodystrophy (MLD) |    | Not Available |
|
| Gene Properties |
| Chromosome Location
| 14 |
| Locus
| 14q31 |
| SNPs
| GALC |
| Gene Sequence
|
>2058 bp
ATGGCTGAGTGGCTACTCTCGGCTTCCTGGCAACGCCGAGCGAAAGCTATGACTGCGGCC
GCGGGTTCGGCGGGCCGCGCCGCGGTGCCCTTGCTGCTGTGTGCGCTGCTGGCGCCCGGC
GGCGCGTACGTGCTCGACGACTCCGACGGGCTGGGCCGGGAGTTCGACGGCATCGGCGCG
GTCAGCGGCGGCGGGGCAACCTCCCGACTTCTAGTAAATTACCCAGAGCCCTATCGTTCT
CAGATATTGGATTATCTCTTTAAGCCGAATTTTGGTGCCTCTTTGCATATTTTAAAAGTG
GAAATAGGTGGTGATGGGCAGACAACAGACGGCACTGAGCCCTCCCACATGCATTATGCA
CTAGATGAGAATTATTTCCGAGGATACGAGTGGTGGTTGATGAAAGAAGCTAAGAAGAGG
AATCCCAATATTACACTCATTGGGTTGCCATGGTCATTCCCTGGATGGCTGGGAAAAGGT
TTCGACTGGCCTTATGTCAATCTTCAGCTGACTGCCTATTATGTCGTGACCTGGATTGTG
GGCGCCAAGCGTTACCATGATTTGGACATTGATTATATTGGAATTTGGAATGAGAGGTCA
TATAATGCCAATTATATTAAGATATTAAGAAAAATGCTGAATTATCAAGGTCTCCAGCGA
GTGAAAATCATAGCAAGTGATAATCTCTGGGAGTCCATCTCTGCATCCATGCTCCTTGAT
GCCGAACTCTTCAAGGTGGTTGATGTTATAGGGGCTCATTATCCTGGAACCCATTCAGCA
AAAGATGCAAAGTTGACTGGGAAGAAGCTTTGGTCTTCTGAAGACTTTAGCACTTTAAAT
AGTGACATGGGTGCAGGCTGCTGGGGTCGCATTTTAAATCAGAATTATATCAATGGCTAT
ATGACTTCCACAATCGCATGGAATTTAGTGGCTAGTTACTATGAACAGTTGCCTTATGGG
AGATGCGGGTTGATGACGGCCCAGGAGCCATGGAGTGGGCACTACGTGGTAGAATCTCCT
GTCTGGGTATCAGCTCATACCACTCAGTTTACTCAACCTGGCTGGTATTACCTGAAGACA
GTTGGCCATTTAGAGAAAGGAGGAAGCTACGTAGCTCTGACTGATGGCTTAGGGAACCTC
ACCATCATCATTGAAACCATGAGTCATAAACATTCTAAGTGCATACGGCCATTTCTTCCT
TATTTCAATGTGTCACAACAATTTGCCACCTTTGTTCTTAAGGGATCTTTTAGTGAAATA
CCAGAGCTACAGGTATGGTATACCAAACTTGGAAAAACATCCGAAAGATTTCTTTTTAAG
CAGCTGGATTCTCTATGGCTCCTTGACAGCGATGGCAGTTTCACACTGAGCCTGCATGAA
GATGAGCTGTTCACACTCACCACTCTCACCACTGGTCGCAAAGGCAGCTACCCGCTTCCT
CCAAAATCCCAGCCCTTCCCAAGTACCTATAAGGATGATTTCAATGTTGATTACCCATTT
TTTAGTGAAGCTCCAAACTTTGCTGATCAAACTGGTGTATTTGAATATTTTACAAATATT
GAAGACCCTGGCGAGCATCACTTCACGCTACGCCAAGTTCTCAACCAGAGACCCATTACG
TGGGCTGCCGATGCATCCAACACAATCAGTATTATAGGAGACTACAACTGGACCAATCTG
ACTATAAAGTGTGATGTATACATAGAGACCCCTGACACAGGAGGTGTGTTCATTGCAGGA
AGAGTAAATAAAGGTGGTATTTTGATTAGAAGTGCCAGAGGAATTTTCTTCTGGATTTTT
GCAAATGGATCTTACAGGGTTACAGGTGATTTAGCTGGATGGATTATATATGCTTTAGGA
CGTGTTGAAGTTACAGCAAAAAAATGGTATACACTCACGTTAACTATTAAGGGTCATTTC
ACCTCTGGCATGCTGAATGACAAGTCTCTGTGGACAGACATCCCTGTGAATTTTCCAAAG
AATGGCTGGGCTGCAATTGGAACTCACTCCTTTGAATTTGCACAGTTTGACAACTTTCTT
GTGGAAGCCACACGCTAA
|
| Protein Properties |
| Number of Residues
| 685 |
| Molecular Weight
| 77062.86 |
| Theoretical pI
| 6.636 |
| Pfam Domain Function
|
|
| Signals
|
Not Available
|
|
Transmembrane Regions
|
Not Available
|
| Protein Sequence
|
>Galactocerebrosidase
MAEWLLSASWQRRAKAMTAAAGSAGRAAVPLLLCALLAPGGAYVLDDSDGLGREFDGIGA
VSGGGATSRLLVNYPEPYRSQILDYLFKPNFGASLHILKVEIGGDGQTTDGTEPSHMHYA
LDENYFRGYEWWLMKEAKKRNPNITLIGLPWSFPGWLGKGFDWPYVNLQLTAYYVVTWIV
GAKRYHDLDIDYIGIWNERSYNANYIKILRKMLNYQGLQRVKIIASDNLWESISASMLLD
AELFKVVDVIGAHYPGTHSAKDAKLTGKKLWSSEDFSTLNSDMGAGCWGRILNQNYINGY
MTSTIAWNLVASYYEQLPYGRCGLMTAQEPWSGHYVVESPVWVSAHTTQFTQPGWYYLKT
VGHLEKGGSYVALTDGLGNLTIIIETMSHKHSKCIRPFLPYFNVSQQFATFVLKGSFSEI
PELQVWYTKLGKTSERFLFKQLDSLWLLDSDGSFTLSLHEDELFTLTTLTTGRKGSYPLP
PKSQPFPSTYKDDFNVDYPFFSEAPNFADQTGVFEYFTNIEDPGEHHFTLRQVLNQRPIT
WAADASNTISIIGDYNWTNLTIKCDVYIETPDTGGVFIAGRVNKGGILIRSARGIFFWIF
ANGSYRVTGDLAGWIIYALGRVEVTAKKWYTLTLTIKGHFASGMLNDKSLWTDIPVNFPK
NGWAAIGTHSFEFAQFDNFLVEATR
|
| External Links |
| GenBank ID Protein
| 83281450 |
| UniProtKB/Swiss-Prot ID
| P54803 |
| UniProtKB/Swiss-Prot Entry Name
| GALC_HUMAN |
| PDB IDs
|
Not Available |
| GenBank Gene ID
| NM_000153.2 |
| GeneCard ID
| GALC |
| GenAtlas ID
| GALC |
| HGNC ID
| HGNC:4115 |
| References |
| General References
| Not Available |