Aminoacylase-1 (ACY1) Human Recombinant Protein

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]

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: Amino Acid Metabolism - arginine and proline; Hydrolase; EC 3.5.1.14

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