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Gene : ACY1 Homo sapiens

Name  ? aminoacylase 1 Cytological Location  3p21.2
Brief Description  aminoacylase 1
description  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]
  • synonyms:
  • OTTHUMG00000157815,
  • L07548,
  • uc003dcp.4,
  • HGNC:177,
  • ACY1,
  • ACY-1,
  • HEL-S-5,
  • ACY1D,
  • NM_000666
  • identifiers:
  • 95,
  • ENSG00000243989,
  • ACY1

Genome feature

Region: gene ? Length: 5919  
Location: 3:51983284-51989202 Cyto location: 3p21.2


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Genomics

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Proteins

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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

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Gene Ontology

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Other

17 SN Ps

5 Cross References

18 Data Sets

14 Homologues

0 Located Features

90 Rna Seq Results