1. Gene
  2. APEH - acylaminoacyl-peptide hydrolase Gene

APEH - acylaminoacyl-peptide hydrolase Gene

Homo sapiens

Also known as APH; OPH; AARE; ACPH; D3S48E; D3F15S2; DNF15S2

Gene ID: 327 | Gene type: protein coding

About APEH

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:49,673,117-49,683,971 (from NCBI)

This gene has 16 transcripts (splice variants), 189 orthologues and 6 paralogues. Ubiquitous expression in kidney (RPKM 28.3), thyroid (RPKM 22.2) and 25 other tissues.

Summary

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. [provided by RefSeq, Jul 2008]

APEH Products(1)

mRNA Protein Name
NM_001640.4 NP_001631.3 acylamino-acid-releasing enzyme

APEH Protein Structure

Peptidase_S9

Peptidase_S9: Prolyl oligopeptidase family (523 - 731)

  • 0
  • 200
  • 400
  • 600
  • 732 a.a.
Protein Preferred Names Protein Names

acylamino-acid-releasing enzyme

N-acylaminoacyl-peptide hydrolase

Related Diseases

Diseases Alias
Campylobacteriosis

Campylobacter Infections

Campylobacter Infection

Enteric Campylobacteriosis

Barbiturate Dependence
Endocardium Disease
Myasthenic Syndrome, Congenital, 22

CMS22

Prepl Deficiency

Congenital Myasthenic Syndrome 22

Urinary Tract Infection

Urinary Tract Infections

Uti

Urinary Tract Infection Nos

Uti - [Urinary Tract Infection]

Uti Nos - [Urinary Tract Infection Nos]

Urosepsis Nos

E Coli Uti

E Coli Urinary Tract Infection

Escherichia Coli Uti

Salmonellosis

Salmonella Infections

Salmonella Infection

Infective Endocarditis

Bacterial Endocarditis

Endocarditis, Infective

Infectious Endocarditis

Endocarditis Infective

Hypotonia-Cystinuria Syndrome

Cystinuria With Mitochondrial Disease

2p21 Microdeletion Syndrome

HCS

Homozygous 2p16 Deletion Syndrome, Formerly

2p21 Deletion Syndrome

Del(2)(P21)

Monosomy 2p21

Atypical Hypotonia-Cystinuria Syndrome

Atypical Hcs

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus APEH VGNC VGNC:67739
Bos taurus APEH VGNC VGNC:26010
Rattus norvegicus APEH RGD RGD:2125
Macaca mulatta APEH VGNC VGNC:69982
Mus musculus APEH MGD MGI:88041
Canis familiaris APEH VGNC VGNC:37982