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MGP001146

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. {ECO:0000305}; 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:0000269|PubMed:8281145, ECO:0000269|PubMed:8399327}.
CautionIt is uncertain whether Met-1 or Met-17 is the initiator. {ECO:0000305}.
DiseaseLeukodystrophy, globoid cell (GLD) [MIM:245200]: An autosomal recessive disorder characterized by insufficient catabolism of several galactolipids that are important for normal myelin production. Four clinical forms are recognized. The infantile form accounts for 90% of cases. It manifests before six months of age with irritability, spasticity, arrest of motor and mental development, and bouts of temperature elevation without infection. This is followed by myoclonic jerks of arms and legs, oposthotonus, hypertonic fits, and mental regression, which progresses to a severe decerebrate condition with no voluntary movements and death from respiratory infections or cerebral hyperpyrexia before 2 years of age. Cases with later onset present with unexplained blindness, weakness and sensorimotor peripheral neuropathy, mental deterioration and death. {ECO:0000269|PubMed:10234611, ECO:0000269|PubMed:10477434, ECO:0000269|PubMed:17579360, ECO:0000269|PubMed:20886637, ECO:0000269|PubMed:23462331, ECO:0000269|PubMed:8595408, ECO:0000269|PubMed:8786069, ECO:0000269|PubMed:8940268, ECO:0000269|PubMed:9272171}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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:0000269|PubMed:8281145, ECO:0000269|PubMed:8399327}.
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={ECO:0000305}; Sequence=AAA80975.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH36518.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA04971.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA04972.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA04972.1; Type=Miscellaneous discrepancy; Note=Probable intron retention.; Evidence={ECO:0000305}; Sequence=BAA24902.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG59160.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityBelongs to the glycosyl hydrolase 59 family. {ECO:0000305}.
Subcellular LocationLysosome.
Tissue SpecificityDetected in urine. Detected in testis, brain and placenta (at protein level). Detected in kidney and liver. {ECO:0000269|PubMed:8399327}.
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