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

Gene ID: 327, updated on 2-Nov-2024

Summary

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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

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See APEH in Genome Data Viewer
Location:
3p21.31
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (49673117..49683971)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (49702408..49713255)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (49711784..49721404)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14366 Neighboring gene dystroglycan 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49572171-49573169 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:49574689-49575189 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14367 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14368 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14369 Neighboring gene BSN divergent transcript Neighboring gene bassoon presynaptic cytomatrix protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49675623-49676124 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49676125-49676624 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:49682435-49682618 Neighboring gene Sharpr-MPRA regulatory region 2684 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14370 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49723317-49724030 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49724031-49724744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49726261-49726820 Neighboring gene Sharpr-MPRA regulatory region 3541 Neighboring gene ring finger protein 123 Neighboring gene macrophage stimulating 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49754537-49755037 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49756083-49756890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19873 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:49758476-49758653 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19874 Neighboring gene adhesion molecule with Ig like domain 3 Neighboring gene GDP-mannose pyrophosphorylase B

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Description of an acylpeptide hydrolase from lens. Sharma KK, et al. Exp Eye Res, 1992 Jun. PMID 1521574
  2. Selective inhibition of acylpeptide hydrolase in SAOS-2 osteosarcoma cells: is this enzyme a viable anticancer target? Gogliettino M, et al. Mol Biol Rep, 2021 Feb. PMID 33471263
  3. Influence of acylpeptide hydrolase polymorphisms on valproic acid level in Chinese epilepsy patients. Wen ZP, et al. Pharmacogenomics, 2016 Jul. PMID 27406852
  4. Specific enhancement of acylase I and acylpeptide hydrolase activities by the corresponding N-acetylated substrates in primary rat hepatocyte cultures. Perrier J, et al. Biol Cell, 2002 Feb. PMID 12000146
  5. Functional proteomics using microchannel plate detectors. Richards P, et al. Proteomics, 2002 Mar. PMID 11921441

See all (78) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Deubiquitinase UCHL1 Maintains Protein Homeostasis through the PSMA7-APEH-Proteasome Axis in High-grade Serous Ovarian Carcinoma.
    Title: Deubiquitinase UCHL1 Maintains Protein Homeostasis through the PSMA7-APEH-Proteasome Axis in High-grade Serous Ovarian Carcinoma.
  2. Selective inhibition of acylpeptide hydrolase in SAOS-2 osteosarcoma cells: is this enzyme a viable anticancer target?
    Title: Selective inhibition of acylpeptide hydrolase in SAOS-2 osteosarcoma cells: is this enzyme a viable anticancer target?
  3. APEH knockdown abrogated RAS-RAF-MAPK signaling in cells expressing the constitutively active (oncogenic) mutant of KRAS (KRASG12V), and selectively inhibited the proliferation of KRAS-transformed pancreatic cancer cells. Taken together, these results identify APEH as a novel drug target for a potential anti-KRAS therapeutic.
    Title: Acylpeptide hydrolase is a novel regulator of KRAS plasma membrane localization and function.
  4. Although APEH is primarily localized in the cytoplasm, a sub-fraction of this enzyme is sequestered at sites of nuclear damage following UVA irradiation or following oxidative stress. APEH interacts with the amino-terminal domain of XRCC1, and APEH facilitates both single-strand break repair and cell survival following exposure to H2O2. Thus, APEH as a novel proteolytic component of the DNA damage response.
    Title: Acylpeptide hydrolase is a component of the cellular response to DNA damage.
  5. APEH polymorphism has significant influence on valproic acid pharmacokinetics in Chinese population
    Title: Influence of acylpeptide hydrolase polymorphisms on valproic acid level in Chinese epilepsy patients.
  6. Studies indicate that the cylindromatosis/turban tumor syndrome gene (CYLD) ranked highest, followed by acylaminoacyl-peptidase (APEH), dystroglycan (DAG1), macrophage-stimulating protein (MST1) and ubiquitin-specific peptidase 4 (USP4).
    Title: Genetic evidence supporting the association of protease and protease inhibitor genes with inflammatory bowel disease: a systematic review.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Evaluation of candidate genes for cholinesterase activity in farmworkers exposed to organophosphorus pesticides: association of single nucleotide polymorphisms in BCHE.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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
  
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

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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
XP_054202382.1
XP_054202383.1
XP_054202384.1
XP_054202385.1

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_001640.4 → NP_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, Q9BQ33, Q9P0Y2
    UniProtKB/TrEMBL
    C9JIF9
    Related
    ENSP00000296456.5, ENST00000296456.10
    Conserved Domains (1) summary
    COG1506
    Location:157 → 732
    DAP2; Dipeptidyl aminopeptidase/acylaminoacyl peptidase [Amino acid transport and metabolism]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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_047448065.1 → XP_047304021.1  acylamino-acid-releasing enzyme isoform X2

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

    UniProtKB/TrEMBL
    C9JIF9
    Conserved Domains (3) summary
    pfam05934
    Location:10 → 127
    MCLC; Mid-1-related chloride channel (MCLC)
    pfam12146
    Location:538 → 754
    Hydrolase_4; Serine aminopeptidase, S33
    cl21494
    Location:555 → 777
    Abhydrolase; alpha/beta hydrolases

  3. XM_017006285.2 → XP_016861774.1  acylamino-acid-releasing enzyme isoform X3

    UniProtKB/TrEMBL
    C9JIF9

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

    UniProtKB/TrEMBL
    C9JIF9
    Conserved Domains (2) summary
    pfam12146
    Location:447 → 663
    Hydrolase_4; Serine aminopeptidase, S33
    cl21494
    Location:464 → 686
    Abhydrolase; alpha/beta hydrolases

  5. XM_047448066.1 → XP_047304022.1  acylamino-acid-releasing enzyme isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    49702408..49713255
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054346407.1 → XP_054202382.1  acylamino-acid-releasing enzyme isoform X1

  2. XM_054346409.1 → XP_054202384.1  acylamino-acid-releasing enzyme isoform X3

  3. XM_054346408.1 → XP_054202383.1  acylamino-acid-releasing enzyme isoform X2

  4. XM_054346410.1 → XP_054202385.1  acylamino-acid-releasing enzyme isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P13798.4 GenPept UniProtKB/Swiss-Prot:P13798

Gene LinkOut

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