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0GALC_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NameGALC
DescriptionGalactocerebrosidase precursor (ec 3.2.1.46) (galcerase) (galactosylceramidase) (galactosylceramide beta-galactosidase) (galactocerebroside beta-galactosidase).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0005764 lysosome (TAS)
Domain Architecture (Details)
InterPro domains unassigned to SynO:
O-Glycosyl hydrolases (EC 3.2.1.-) are a widespread group of enzymes that hydrolyse the glycosidic bond between two or more carbohydrates.r between a carbohydrate and a non-carbohydrate moiety. A classification system for glycosylhydrolases.ased on sequence similarity.as led to the definition of 85 different families . This classification is available on the CAZy (CArbohydrate-Active EnZymes) web site . Because the fold of proteins is better conserved than their sequences.ome of the families can be grouped in clans.Glycoside hydrolase family 59 comprises enzymes with only one known activity; galactocerebrosidase ().Globoid cell leukodystrophy (Krabbe disease) is a severe.utosomalrecessive disorder that results from deficiency of galactocerebrosidase(GALC) activity . GALC is responsible for the lysosomal catabolism ofcertain galactolipids.ncluding galactosylceramide and psychosine .
  IPR001286:Glycoside hydrolase, family 59
IPR001286:Glyco_hydro_59 
Evalue:-1e+125 
Location:1-669
SequencesProtein: GALC_HUMAN (669 aa)
mRNA: BC036518 NM_000153
Local Annotation
Synapse Ontology
Typical ecretory organelles, some 50 nm in diameter, of presynaptic nerve terminals; accumulate high concentrations of nonpeptide neurotransmitters and secrete these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane.
sdb:0094 typical synaptic vesicle  (Evidence:keywords)
KO assignmentK01202
  Level 3 annotation:
    galactosylceramidase
  Level 2 annotation:
    Glycosphingolipid metabolism
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 622 residues, 87469110-87470975Exon2: 27 residues, 87476001-87476078Exon3: 56 residues, 87477491-87477655Exon4: 62 residues, 87481649-87481830Exon5: 52 residues, 87483824-87483975Exon6: 31 residues, 87485941-87486028Exon7: 32 residues, 87486755-87486845Exon8: 44 residues, 87499480-87499608Exon9: 43 residues, 87501601-87501726Exon10: 54 residues, 87504431-87504587Exon11: 45 residues, 87512454-87512585Exon12: 15 residues, 87518301-87518340Exon13: 48 residues, 87520490-87520630Exon14: 40 residues, 87522585-87522699Exon15: 23 residues, 87524240-87524304Exon16: 25 residues, 87524551-87524620Exon17: 53 residues, 87529066-87529219Exon18: 2 residues, -Jump to GALC_HUMANExon1: 622 residues, 87469110-87470975Exon2: 27 residues, 87476001-87476078Exon3: 56 residues, 87477491-87477655Exon4: 62 residues, 87481649-87481830Exon5: 52 residues, 87483824-87483975Exon6: 31 residues, 87485941-87486028Exon7: 32 residues, 87486755-87486845Exon8: 44 residues, 87499480-87499608Exon9: 43 residues, 87501601-87501726Exon10: 54 residues, 87504431-87504587Exon11: 45 residues, 87512454-87512585Exon12: 15 residues, 87518301-87518340Exon13: 48 residues, 87520490-87520630Exon14: 40 residues, 87522585-87522699Exon15: 23 residues, 87524240-87524304Exon16: 25 residues, 87524551-87524620Exon17: 200 residues, 87529066-87529660Exon18: 2 residues, -Jump to GALC_HUMAN  
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