ACY1
aminoacylase 1
Synonyms:
ACY-1, ACY1D
Species:
Human ACY1 (95), Mouse Acy1 (109652), Rat Acy1 (300981), Zebrafish acy1 (393970), dog ACY1 (476602), cow ACY1 (768058), Horse ACY1 (100060631), chicken ACY1 (100858836), naked mole-rat Acy1 (101696409), domestic guinea pig Acy1 (100714326) ...More
UniProtKB ID:
Gene ID:
- Human(95) Summary: 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]
- Mouse(109652) aminoacylase 1
- Rat(300981) aminoacylase 1
- Zebrafish(393970) aminoacylase 1
- dog(476602) aminoacylase 1
- cow(768058) aminoacylase 1
- Horse(100060631) aminoacylase 1
- chicken(100858836) aminoacylase 1
- naked mole-rat(101696409) aminoacylase 1
- domestic guinea pig(100714326) aminoacylase 1
- sheep(101113801) aminoacylase 1
- Domestic Rabbit(100344479) aminoacylase 1
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