Names & Taxonomy
- Uniprot ID:
- P54803
- Entry Name:
- GALC_HUMAN
- Status:
- reviewed
- Protein Names:
- Galactocerebrosidase (GALCERase) (EC 3.2.1.46) (Galactocerebroside beta-galactosidase) (Galactosylceramidase) (Galactosylceramide beta-galactosidase)
- Gene Names:
- GALC
- Gene Names Primary:
- GALC
- Organism:
- Homo sapiens (Human)
Structure
- Length:
- 685
- Sequence:
- MAEWLLSASWQRRAKAMTAAAGSAGRAAVPLLLCALLAPGGAYVLDDSDGLGREFDGIGAVSGGGATSRLLVNYPEPYRSQILDYLFKPNFGASLHILKVEIGGDGQTTDGTEPSHMHYALDENYFRGYEWWLMKEAKKRNPNITLIGLPWSFPGWLGKGFDWPYVNLQLTAYYVVTWIVGAKRYHDLDIDYIGIWNERSYNANYIKILRKMLNYQGLQRVKIIASDNLWESISASMLLDAELFKVVDVIGAHYPGTHSAKDAKLTGKKLWSSEDFSTLNSDMGAGCWGRILNQNYINGYMTSTIAWNLVASYYEQLPYGRCGLMTAQEPWSGHYVVESPVWVSAHTTQFTQPGWYYLKTVGHLEKGGSYVALTDGLGNLTIIIETMSHKHSKCIRPFLPYFNVSQQFATFVLKGSFSEIPELQVWYTKLGKTSERFLFKQLDSLWLLDSDGSFTLSLHEDELFTLTTLTTGRKGSYPLPPKSQPFPSTYKDDFNVDYPFFSEAPNFADQTGVFEYFTNIEDPGEHHFTLRQVLNQRPITWAADASNTISIIGDYNWTNLTIKCDVYIETPDTGGVFIAGRVNKGGILIRSARGIFFWIFANGSYRVTGDLAGWIIYALGRVEVTAKKWYTLTLTIKGHFASGMLNDKSLWTDIPVNFPKNGWAAIGTHSFEFAQFDNFLVEATR
- Proteomes:
- UP000005640
Subcellular location
- Subcellular Location:
- Lysosome.
Function
- 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.
- Catalytic Activity:
- D-galactosyl-N-acylsphingosine + H(2)O = D-galactose + N-acylsphingosine.
- Active Site:
- ACT_SITE 198 198 Proton donor/acceptor.
- Gene Ontology Go:
- extracellular exosome
lysosomal lumen
lysosome
galactosylceramidase activity
carbohydrate metabolic process
galactosylceramide catabolic process
glycosphingolipid metabolic process
small molecule metabolic process
sphingolipid metabolic process - Gene Ontology Biological Process:
- carbohydrate metabolic process
galactosylceramide catabolic process
glycosphingolipid metabolic process
small molecule metabolic process
sphingolipid metabolic process - Gene Ontology Molecular Function:
- galactosylceramidase activity
- Gene Ontology Cellular Component:
- extracellular exosome
lysosomal lumen
lysosome - Keywords:
- Alternative splicing
Complete proteome
Direct protein sequencing
Disease mutation
Disulfide bond
Glycoprotein
Glycosidase
Hydrolase
Leukodystrophy
Lipid degradation
Lipid metabolism
Lysosome
Polymorphism
Reference proteome
Signal
Sphingolipid metabolism