LMPD Database

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LMP002432

UniProt Annotations

Entry Information
Gene Namegalactosylceramidase
Protein EntryGALC_HUMAN
UniProt IDP54803
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; IsoId=P54803-1; Sequence=Displayed; Name=3; IsoId=P54803-3; Sequence=VSP_036976; Note=No experimental confirmation available.; Name=4; IsoId=P54803-4; Sequence=VSP_036974; Note=Ref.3 (BAG64110) sequence is in conflict in position: 17:A->T. ; Name=5; IsoId=P54803-5; Sequence=VSP_036975, VSP_036977; Note=No experimental confirmation available.;
Biophysicochemical PropertiespH dependence: Optimum pH is 4.0-4.4.; Temperature dependence: Activity is lost after heating at 52 degrees Celsius for five minutes.;
Catalytic ActivityD-galactosyl-N-acylsphingosine + H(2)O = D- galactose + N-acylsphingosine. {ECO
CautionIt is uncertain whether Met-1 or Met-17 is the initiator.
DiseaseLeukodystrophy, globoid cell (GLD) [MIM
FunctionHydrolyzes 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
PolymorphismPolymorphic amino-acid changes are responsible for the wide range of catalytic activities found in the general population.
Sequence CautionSequence=AAA16645.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ; Sequence=AAA80975.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ; Sequence=AAH36518.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ; Sequence=BAA04971.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ; Sequence=BAA04972.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ; Sequence=BAA04972.1; Type=Miscellaneous discrepancy; Note=Probable intron retention.; Evidence= ; Sequence=BAA24902.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ; Sequence=BAG59160.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ;
SimilarityBelongs to the glycosyl hydrolase 59 family.
Subcellular LocationLysosome.
Tissue SpecificityDetected in urine. Detected in testis, brain and placenta (at protein level). Detected in kidney and liver.