Aliases for ACY1 Gene
External Ids for ACY1 Gene
Previous GeneCards Identifiers for ACY1 Gene
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]
GeneCards Summary for ACY1 Gene
ACY1 (Aminoacylase 1) is a Protein Coding gene. Diseases associated with ACY1 include Aminoacylase 1 Deficiency and Syringomyelia. Among its related pathways are Urea cycle and metabolism of amino groups and Arginine biosynthesis. Gene Ontology (GO) annotations related to this gene include hydrolase activity and aminoacylase activity. An important paralog of this gene is ABHD14A-ACY1.
UniProtKB/Swiss-Prot Summary for ACY1 Gene
Involved in the hydrolysis of N-acylated or N-acetylated amino acids (except L-aspartate).