ACY1


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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
aminoacylase 1MIM:104620Ensembl:ENSG00000243989HGNC:HGNC:177PA244973p21.2

GO terms in ACY1


Term TypeEvidence TypeGO Term IDGO Des.
BPIEAGO:0006508proteolysis
BPIEAGO:0006520cellular amino acid metabolic process
BPTASGO:0006805xenobiotic metabolic process
CCTASGO:0005829cytosol
CCHDAGO:0070062extracellular exosome
CCIDAGO:0070062extracellular exosome
MFIBAGO:0004046aminoacylase activity
MFTASGO:0004046aminoacylase activity
MFIPIGO:0005515protein binding
MFIEAGO:0008237metallopeptidase activity
MFIPIGO:0042802identical protein binding
MFIEAGO:0046872metal ion binding

Gene expression in normal tissue: ACY1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in ACY1


DatabasePathway IDPathway Des.
reactomeR-HSA-1430728Metabolism
reactomeR-HSA-1643685Disease
reactomeR-HSA-211859Biological oxidations
reactomeR-HSA-5423646Aflatoxin activation and detoxification
reactomeR-HSA-5579007Defective ACY1 causes encephalopathy
reactomeR-HSA-5579029Metabolic disorders of biological oxidation enzymes
reactomeR-HSA-5668914Diseases of metabolism
wikipathwaysWP497Urea cycle and metabolism of amino groups
kegghsa00220Arginine biosynthesis - Homo sapiens (human)

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD353PD03259012

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in ACY1

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