APEH (gene)

AliasesAPEH, AARE, ACPH, APH, D3F15S2, D3S48E, DNF15S2, OPH, acylaminoacyl-peptide hydrolase

External IDsOMIM: 102645; MGI: 88041; HomoloGene: 1240; GeneCards: APEH; OMA:APEH - orthologs

Chr.Chromosome 3 (human)^[1]

End49,683,971 bp^[1]

APEH
Identifiers
Aliases	APEH, AARE, ACPH, APH, D3F15S2, D3S48E, DNF15S2, OPH, acylaminoacyl-peptide hydrolase
External IDs	OMIM: 102645; MGI: 88041; HomoloGene: 1240; GeneCards: APEH; OMA:APEH - orthologs
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3p21.31 Start 49,674,014 bp[1] End 49,683,971 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9 F1|9 59.07 cM Start 107,962,612 bp[2] End 107,971,805 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of transverse colon anterior pituitary muscle of thigh right lobe of thyroid gland left lobe of thyroid gland right adrenal gland right adrenal cortex apex of heart left adrenal gland left adrenal cortex Top expressed in fetal liver hematopoietic progenitor cell right kidney human kidney epithelium of small intestine interventricular septum duodenum jejunum left lobe of liver spleen intestinal villus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function omega peptidase activity serine-type peptidase activity protein binding hydrolase activity serine-type endopeptidase activity identical protein binding RNA binding Cellular component nuclear membrane extracellular exosome extracellular region cytoplasm cytosol ficolin-1-rich granule lumen Biological process translational termination amyloid-beta metabolic process proteolysis neutrophil degranulation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 327 235606 Ensembl ENSG00000164062 ENSMUSG00000032590 UniProt P13798 Q8R146 RefSeq (mRNA) NM_001640 NM_146226 RefSeq (protein) NP_001631 NP_666338 Location (UCSC) Chr 3: 49.67 – 49.68 Mb Chr 9: 107.96 – 107.97 Mb PubMed search [3] [4]
Wikidata
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Acylamino-acid-releasing enzyme is an enzyme that in humans is encoded by the APEH gene.^[5][6]

This gene encodes the enzyme acylpeptide hydrolase, which catalyzes the hydrolysis of the terminal acetylated amino acid preferentially from small acetylated peptides. The acetyl amino acid formed by this hydrolase is further processed to acetate and a free amino acid by an aminoacylase. This gene is located within the same region of chromosome 3 (3p21) as the aminoacylase gene, and deletions at this locus are also associated with a decrease in aminoacylase activity. The acylpeptide hydrolase is a homotetrameric protein of 300 kDa with each subunit consisting of 732 amino acid residues. It can play an important role in destroying oxidatively-damaged proteins in living cells. Deletions of this gene locus are found in various types of carcinomas, including small-cell lung carcinoma and renal cell carcinoma.^[6]