UniProt functional annotation for P54818



	UniProt functional annotation for P54818

UniProt code: P54818.

Organism: Mus musculus (Mouse).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus.

Function: Hydrolyzes the galactose ester bonds of glycolipids such as galactosylceramide and galactosylsphingosine (PubMed:8769874, PubMed:10861297). 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 (By similarity). {ECO:0000250|UniProtKB:P54803, ECO:0000269|PubMed:10861297, ECO:0000269|PubMed:8769874}.

Catalytic activity: Reaction=a beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine + H2O = an N-acylsphing-4-enine + D-galactose; Xref=Rhea:RHEA:14297, ChEBI:CHEBI:4139, ChEBI:CHEBI:15377, ChEBI:CHEBI:18390, ChEBI:CHEBI:52639; EC=3.2.1.46; Evidence={ECO:0000269|PubMed:8769874}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:14298; Evidence={ECO:0000305|PubMed:8769874};

Catalytic activity: Reaction=a D-galactosylceramide + H2O = an N-acyl-sphingoid base + D- galactose; Xref=Rhea:RHEA:43412, ChEBI:CHEBI:4139, ChEBI:CHEBI:15377, ChEBI:CHEBI:36498, ChEBI:CHEBI:83273; Evidence={ECO:0000269|PubMed:10861297}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:43413; Evidence={ECO:0000305|PubMed:10861297};

Catalytic activity: Reaction=beta-D-galactosyl-(1<->1)-sphing-4-enine + H2O = D-galactose + sphing-4-enine; Xref=Rhea:RHEA:43908, ChEBI:CHEBI:4139, ChEBI:CHEBI:15377, ChEBI:CHEBI:57756, ChEBI:CHEBI:57934; Evidence={ECO:0000250|UniProtKB:P54803}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:43909; Evidence={ECO:0000250|UniProtKB:P54803};

Subcellular location: Lysosome {ECO:0000250}.

Tissue specificity: Detected in brain and kidney. {ECO:0000269|PubMed:8769874}.

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.

Similarity: Belongs to the glycosyl hydrolase 59 family. {ECO:0000305}.

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};

Annotations taken from UniProtKB at the EBI.


Organism:		Mus musculus (Mouse).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus.



Function:		Hydrolyzes the galactose ester bonds of glycolipids such as galactosylceramide and galactosylsphingosine (PubMed:8769874, PubMed:10861297). 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 (By similarity). {ECO:0000250\|UniProtKB:P54803, ECO:0000269\|PubMed:10861297, ECO:0000269\|PubMed:8769874}.


Catalytic activity:		Reaction=a beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine + H2O = an N-acylsphing-4-enine + D-galactose; Xref=Rhea:RHEA:14297, ChEBI:CHEBI:4139, ChEBI:CHEBI:15377, ChEBI:CHEBI:18390, ChEBI:CHEBI:52639; EC=3.2.1.46; Evidence={ECO:0000269\|PubMed:8769874}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:14298; Evidence={ECO:0000305\|PubMed:8769874};
Catalytic activity:		Reaction=a D-galactosylceramide + H2O = an N-acyl-sphingoid base + D- galactose; Xref=Rhea:RHEA:43412, ChEBI:CHEBI:4139, ChEBI:CHEBI:15377, ChEBI:CHEBI:36498, ChEBI:CHEBI:83273; Evidence={ECO:0000269\|PubMed:10861297}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:43413; Evidence={ECO:0000305\|PubMed:10861297};
Catalytic activity:		Reaction=beta-D-galactosyl-(1<->1)-sphing-4-enine + H2O = D-galactose + sphing-4-enine; Xref=Rhea:RHEA:43908, ChEBI:CHEBI:4139, ChEBI:CHEBI:15377, ChEBI:CHEBI:57756, ChEBI:CHEBI:57934; Evidence={ECO:0000250\|UniProtKB:P54803}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:43909; Evidence={ECO:0000250\|UniProtKB:P54803};
Subcellular location:		Lysosome {ECO:0000250}.
Tissue specificity:		Detected in brain and kidney. {ECO:0000269\|PubMed:8769874}.
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.
Similarity:		Belongs to the glycosyl hydrolase 59 family. {ECO:0000305}.
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};