Symbol: Name: ID: |
ACY1 aminoacylase 1 GFS:6631 |
Gene name: | ACY1 |
Chromosome: | 3p21.2 |
Previous Symbols: | |
Previous Names: | |
Aliases: | |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:87913 | Rat Genome Database ID: | RGD:2030 |
HGNC ID: | HGNC:177 | RefSeq IDs: | NM_001198896 |
Entrez Gene ID: | Ensembl Gene ID: | ENSG00000243989 | |
VEGA IDs: | OTTHUMG00000157815 | UniProt ID: | Q03154 |
UCSC ID: | uc003dcp.2 | OMIM ID: | 104620 |
Pubmed: | PMID1707030 PMID 6948533 | ||
CCDS IDs: | CCDSCCDS2844.1 |
Aminoacylase-1 is an enzyme that in humans is encoded by the ACY1 gene.
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].
Function: Involved in the hydrolysis of N-acylated or N-acetylated amino acids (except L-aspartate).
Products for ACY1 gene
Catalog | Product Name | Application | Company |
GFS:E06631 | aminoacylase 1; ELISA kit | ELISA | n/a |
GFS:A06631 | aminoacylase 1; Anti | ANTIBODIES | n/a |
GFS:P06631 | aminoacylase 1; Protien | Protien | n/a |