| Entrez gene ID | | 95 |
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| Official gene symbol | | ACY1 |
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| Full name | | aminoacylase 1 |
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| Aliases | | ,ACY1D,ACYLASE, |
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| Gene 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] |
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| Location | | Chromosome: 3 Locus: 3p21.1 |
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| Gene position | | 52017563 - 52023218 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 5656 bp |
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| Gene sequence |
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| OMIM ID | | 104620 |
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