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UniProt functional annotation for Q03154 | ||
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| UniProt code: Q03154. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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| Function: | |
Involved in the hydrolysis of N-acylated or N-acetylated amino acids (except L-aspartate). {ECO:0000269|PubMed:12933810}. |
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| Catalytic activity: | |
Reaction=an N-acyl-L-amino acid + H2O = a carboxylate + an L-alpha- amino acid; Xref=Rhea:RHEA:15565, ChEBI:CHEBI:15377, ChEBI:CHEBI:29067, ChEBI:CHEBI:59869, ChEBI:CHEBI:59874; EC=3.5.1.14; Evidence={ECO:0000269|PubMed:12933810}; |
| Catalytic activity: | |
Reaction=an N-acetyl-L-cysteine-S-conjugate + H2O = acetate + an S- substituted L-cysteine; Xref=Rhea:RHEA:36855, ChEBI:CHEBI:15377, ChEBI:CHEBI:30089, ChEBI:CHEBI:58717, ChEBI:CHEBI:58718; EC=3.5.1.14; Evidence={ECO:0000269|PubMed:12933810}; |
| Cofactor: | |
Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence={ECO:0000269|PubMed:12933810}; Note=Binds 2 Zn(2+) ions per subunit. {ECO:0000269|PubMed:12933810}; |
| Subunit: | |
Homodimer. Interacts with SPHK1 (By similarity). {ECO:0000250}. |
| Subcellular location: | |
Cytoplasm. |
| Tissue specificity: | |
Expression is highest in kidney, strong in brain and weaker in placenta and spleen. {ECO:0000269|PubMed:16465618}. |
| Disease: | |
Aminoacylase-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 variants affecting the gene represented in this entry. |
| Similarity: | |
Belongs to the peptidase M20A family. {ECO:0000305}. |
Annotations taken from UniProtKB at the EBI.