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APEH acylaminoacyl-peptide hydrolase [ Homo sapiens (human) ]

Gene ID: 327, updated on 6-Nov-2022

Summary

Official Symbol
APEHprovided by HGNC
Official Full Name
acylaminoacyl-peptide hydrolaseprovided by HGNC
Primary source
HGNC:HGNC:586
See related
Ensembl:ENSG00000164062 MIM:102645; AllianceGenome:HGNC:586
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
APH; OPH; AARE; ACPH; D3S48E; D3F15S2; DNF15S2
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]
Expression
Ubiquitous expression in kidney (RPKM 28.3), thyroid (RPKM 22.2) and 25 other tissues See more
Orthologs
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Genomic context

See APEH in Genome Data Viewer
Location:
3p21.31
Exon count:
24
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (49673117..49683971)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (49703635..49713255)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (49711784..49721404)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene BSN divergent transcript Neighboring gene bassoon presynaptic cytomatrix protein Neighboring gene Sharpr-MPRA regulatory region 2684 Neighboring gene macrophage stimulating 1 Neighboring gene ring finger protein 123 Neighboring gene Sharpr-MPRA regulatory region 3541 Neighboring gene adhesion molecule with Ig like domain 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC2178

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables omega peptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables serine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables serine-type endopeptidase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
involved_in amyloid-beta metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in translational termination TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
 
located_in ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
 
located_in nuclear membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
acylamino-acid-releasing enzyme
Names
N-acylaminoacyl-peptide hydrolase
acyl-peptide hydrolase
acylaminoacyl-peptidase
oxidized protein hydrolase
NP_001631.3
XP_005265154.1
XP_011531960.1
XP_016861774.1
XP_047304021.1
XP_047304022.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011438.1 RefSeqGene

    Range
    5350..14970
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001640.4NP_001631.3  acylamino-acid-releasing enzyme

    See identical proteins and their annotated locations for NP_001631.3

    Status: REVIEWED

    Source sequence(s)
    AC099668
    Consensus CDS
    CCDS2801.1
    UniProtKB/Swiss-Prot
    P13798, Q9P0Y2
    UniProtKB/TrEMBL
    A0A024R2U9
    Related
    ENSP00000296456.5, ENST00000296456.10
    Conserved Domains (1) summary
    COG1506
    Location:157732
    DAP2; Dipeptidyl aminopeptidase/acylaminoacyl peptidase [Amino acid transport and metabolism]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    49673117..49683971
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047448065.1XP_047304021.1  acylamino-acid-releasing enzyme isoform X2

  2. XM_011533658.4XP_011531960.1  acylamino-acid-releasing enzyme isoform X1

    Conserved Domains (3) summary
    pfam05934
    Location:10127
    MCLC; Mid-1-related chloride channel (MCLC)
    pfam12146
    Location:538754
    Hydrolase_4; Serine aminopeptidase, S33
    cl21494
    Location:555777
    Abhydrolase; alpha/beta hydrolases
  3. XM_017006285.2XP_016861774.1  acylamino-acid-releasing enzyme isoform X3

  4. XM_005265097.3XP_005265154.1  acylamino-acid-releasing enzyme isoform X4

    Conserved Domains (2) summary
    pfam12146
    Location:447663
    Hydrolase_4; Serine aminopeptidase, S33
    cl21494
    Location:464686
    Abhydrolase; alpha/beta hydrolases
  5. XM_047448066.1XP_047304022.1  acylamino-acid-releasing enzyme isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    49703635..49713255
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)