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 neurological conditions associated with aminoacylase 1 deficiency. Among its related pathways are Metabolism and Phase II conjugation. GO annotations related to this gene include hydrolase activity and aminoacylase activity. An important paralog of this gene is ABHD14A-ACY1.
UniProtKB/Swiss-Prot for ACY1 Gene
Involved in the hydrolysis of N-acylated or N-acetylated amino acids (except L-aspartate).