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

Publication

PubMed ID:
7601472 9434153 14702039 12508121 8281145 8297359 15489334 8399327 9338580 10833326 7581365 8595408 8940268 8786069 9272171 10477434 10234611 17579360 20886637 23462331