MGP Database

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MGP000222

UniProt Annotations

Entry Information
Gene NameN-acylsphingosine amidohydrolase (acid ceramidase) 1
Protein EntryASAH1_HUMAN
UniProt IDQ13510
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q13510-1; Sequence=Displayed; Name=2; IsoId=Q13510-2; Sequence=VSP_037504; Note=Variant in position: 185:W->R (in FL). Variant in position: 382:K->Q (in FL). {ECO:0000269|PubMed:21982811}; Name=3; IsoId=Q13510-3; Sequence=VSP_037504, VSP_046284, VSP_046285; Note=No experimental confirmation available.;
Catalytic ActivityN-acylsphingosine + H(2)O = a carboxylate + sphingosine.
DiseaseFarber lipogranulomatosis (FL) [MIM:228000]: Sphingolipid disease characterized by subcutaneous lipid-loaded nodules, excruciating pain in the joints and extremities, marked accumulation of ceramide in lysosomes, and death by three years of age. {ECO:0000269|PubMed:10610716, ECO:0000269|PubMed:10993717, ECO:0000269|PubMed:11241842, ECO:0000269|PubMed:12638942, ECO:0000269|PubMed:16951918, ECO:0000269|PubMed:20609603, ECO:0000269|PubMed:21893389, ECO:0000269|PubMed:21982811, ECO:0000269|PubMed:8955159}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseSpinal muscular atrophy with progressive myoclonic epilepsy (SMAPME) [MIM:159950]: An autosomal recessive neuromuscular disorder characterized by childhood onset of motor deficits and progressive myoclonic seizures, after normal developmental milestones. Proximal muscle weakness and generalized muscular atrophy are due to degeneration of spinal motor neurons. Myoclonic epilepsy is generally resistant to conventional therapy. The disease course is progressive and leads to respiratory muscle involvement and severe handicap or early death from respiratory insufficiency. {ECO:0000269|PubMed:22703880, ECO:0000269|PubMed:24164096}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionHydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid.
Sequence CautionSequence=AAC73009.1; Type=Frameshift; Positions=15, 21; Evidence={ECO:0000305};
SimilarityBelongs to the acid ceramidase family. {ECO:0000305}.
Subcellular LocationLysosome.
SubunitHeterodimer of one alpha and one beta subunit.
Tissue SpecificityBroadly expressed with highest expression in heart.
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