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MGP000048

UniProt Annotations

Entry Information
Gene Nameaminoacylase 1
Protein EntryACY1_HUMAN
UniProt IDQ03154
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q03154-1; Sequence=Displayed; Name=2; IsoId=Q03154-2; Sequence=VSP_046877; Note=Gene prediction based on EST data.; Name=3; IsoId=Q03154-3; Sequence=VSP_046878; Note=Gene prediction based on EST data.; Name=4; IsoId=Q03154-4; Sequence=VSP_046876; Note=Gene prediction based on EST data.;
Catalytic ActivityAn N-acetyl-L-cysteine-S-conjugate + H(2)O = an L-cysteine-S-conjugate + acetate. {ECO:0000269|PubMed:12933810}.
Catalytic ActivityAn N-acyl-aliphatic-L-amino acid + H(2)O = an aliphatic L-amino acid + a carboxylate. {ECO:0000269|PubMed:12933810}.
CofactorName=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence={ECO:0000269|PubMed:12933810}; Note=Binds 2 Zn(2+) ions per subunit. {ECO:0000269|PubMed:12933810};
DiseaseAminoacylase-1 deficiency (ACY1D) [MIM:609924]: An enzymatic deficiency resulting in encephalopathy, unspecific psychomotor delay, psychomotor delay with atrophy of the vermis and syringomyelia, marked muscular hypotonia or normal clinical features. Epileptic seizures are a frequent feature. All affected individuals exhibit markedly increased urinary excretion of several N-acetylated amino acids. {ECO:0000269|PubMed:16274666, ECO:0000269|PubMed:16465618, ECO:0000269|PubMed:17562838, ECO:0000269|PubMed:21414403}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionInvolved in the hydrolysis of N-acylated or N-acetylated amino acids (except L-aspartate). {ECO:0000269|PubMed:12933810}.
SimilarityBelongs to the peptidase M20A family. {ECO:0000305}.
Subcellular LocationCytoplasm.
SubunitHomodimer. Interacts with SPHK1 (By similarity). {ECO:0000250}.
Tissue SpecificityExpression is highest in kidney, strong in brain and weaker in placenta and spleen. {ECO:0000269|PubMed:16465618}.
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