Q03154.1
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
Aminoacylase-1
NCBI Official Synonym Full Names
aminoacylase 1
NCBI Protein Information
aminoacylase-1; epididymis secretory protein Li 5; N-acyl-L-amino-acid amidohydrolase
UniProt Protein Name
Aminoacylase-1
UniProt Synonym Protein Names
N-acyl-L-amino-acid amidohydrolase
UniProt Synonym Gene Names
UniProt Entry Name
ACY1_HUMAN
NCBI Summary for ACY1
This gene encodes a cytosolic, homodimeric, zinc-binding enzyme that catalyzes the hydrolysis of acylated L-amino acids to L-amino acids and an acyl group, and has been postulated to function in the catabolism and salvage of acylated amino acids. This gene is located on chromosome 3p21.1, a region reduced to homozygosity in small-cell lung cancer (SCLC), and its expression has been reported to be reduced or undetectable in SCLC cell lines and tumors. The amino acid sequence of human aminoacylase-1 is highly homologous to the porcine counterpart, and this enzyme is the first member of a new family of zinc-binding enzymes. Mutations in this gene cause aminoacylase-1 deficiency, a metabolic disorder characterized by central nervous system defects and increased urinary excretion of N-acetylated amino acids. Alternative splicing of this gene results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ABHD14A (abhydrolase domain containing 14A) gene, as represented in GeneID:100526760. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Nov 2010]
UniProt Comments for ACY1
ACY1: Involved in the hydrolysis of N-acylated or N-acetylated amino acids (except L-aspartate). Defects in ACY1 are the cause of aminoacylase-1 deficiency (ACY1D). ACY1D results in a metabolic disorder manifesting with 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. Belongs to the peptidase M20A family.
Protein type: Hydrolase; EC 3.5.1.14; Amino Acid Metabolism - arginine and proline
Chromosomal Location of Human Ortholog: 3p21.1
Cellular Component: cytosol
Molecular Function: metallopeptidase activity; metal ion binding; aminoacylase activity
Biological Process: amino acid metabolic process; xenobiotic metabolic process; proteolysis
Disease: Aminoacylase 1 Deficiency
Research Articles on ACY1
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Products associated with anti-ACY1 antibody
Pathways associated with anti-ACY1 antibody
Diseases associated with anti-ACY1 antibody
Organs/Tissues associated with anti-ACY1 antibody
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