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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
aminoacylase 1 | MIM:104620 | Ensembl:ENSG00000243989 | HGNC:HGNC:177 | PA24497 | 3p21.2 |
GO terms in ACY1
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
BP | IEA | GO:0006508 | proteolysis |
BP | IEA | GO:0006520 | cellular amino acid metabolic process |
BP | TAS | GO:0006805 | xenobiotic metabolic process |
CC | TAS | GO:0005829 | cytosol |
CC | HDA | GO:0070062 | extracellular exosome |
CC | IDA | GO:0070062 | extracellular exosome |
MF | IBA | GO:0004046 | aminoacylase activity |
MF | TAS | GO:0004046 | aminoacylase activity |
MF | IPI | GO:0005515 | protein binding |
MF | IEA | GO:0008237 | metallopeptidase activity |
MF | IPI | GO:0042802 | identical protein binding |
MF | IEA | GO:0046872 | metal ion binding |
Gene expression in normal tissue: ACY1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ACY1
Database | Pathway ID | Pathway Des. |
---|---|---|
reactome | R-HSA-1430728 | Metabolism |
reactome | R-HSA-1643685 | Disease |
reactome | R-HSA-211859 | Biological oxidations |
reactome | R-HSA-5423646 | Aflatoxin activation and detoxification |
reactome | R-HSA-5579007 | Defective ACY1 causes encephalopathy |
reactome | R-HSA-5579029 | Metabolic disorders of biological oxidation enzymes |
reactome | R-HSA-5668914 | Diseases of metabolism |
wikipathways | WP497 | Urea cycle and metabolism of amino groups |
kegg | hsa00220 | Arginine biosynthesis - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ACY1