HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
APEH
acylaminoacyl-peptide hydrolase
Chromosome 3 · 3p21.31
NCBI Gene: 327Ensembl: ENSG00000164062.14HGNC: HGNC:586UniProt: P13798
84PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingserine-type endopeptidase activityprotein bindingomega peptidase activityCrohn's diseaseulcerative colitisanorexia nervosaintelligence
✦AI Summary

APEH (acylaminoacyl-peptide hydrolase) is an exopeptidase that catalyzes the hydrolysis of N-terminal peptide bonds in N-acetylated and N-formylated peptides, preferentially cleaving N-acetylated amino acids like Ac-Ala, Ac-Met, and Ac-Ser 1. The enzyme also displays endopeptidase activity toward oxidized and glycated proteins, functioning sequentially with ACY1 in N-acylated peptide degradation 1. APEH protects cells by degrading protein carbonyls, oxidative modifications that trigger endoplasmic reticulum stress and the unfolded protein response 1. Beyond proteolysis, APEH localizes to nuclear DNA damage sites via interaction with XRCC1, facilitating single-strand break repair and cell survival following oxidative stress 2. APEH activity is inhibited by lipid metabolites and peroxidation products, potentially serving as a biomarker for oxidative stress in diseases 3. Clinically, APEH represents a druggable target across multiple disease contexts: genome-wide association studies identify APEH as a pleiotropic gene affecting type 2 diabetes, muscle mass, and frailty 4; it is implicated in acute kidney injury pathogenesis 5; and the HNF4A/APEH axis regulates protein carbonylation and unfolded protein response signaling in diabetic kidney disease 1. APEH genetic variants (rs4855883) correlate with radiotherapy-induced oral mucositis severity in head and neck cancer patients 6.

Sources cited
1
APEH catalyzes hydrolysis of N-terminal peptide bonds in N-acetylated peptides and degrades carbonylated proteins; HNF4A directly regulates APEH expression in diabetic kidney disease
PMID: 40396970
2
APEH localizes to nuclear DNA damage sites through XRCC1 interaction and facilitates single-strand break repair and cell survival
PMID: 28866241
3
APEH activity is inhibited by lipid metabolites and peroxidation products and may serve as a biomarker for oxidative stress
PMID: 34508712
4
APEH is identified as a druggable gene with pleiotropic effects on type 2 diabetes, muscle mass, and frailty
PMID: 39710002
5
APEH is a prioritized causal target for acute kidney injury based on multi-omics Mendelian randomization analysis
PMID: 40148878
6
APEH gene polymorphism (rs4855883) correlates with radiotherapy-induced oral mucositis severity in head and neck cancer
PMID: 30038710
Disease Associationsⓘ20
Crohn's diseaseOpen Targets
0.20Weak
ulcerative colitisOpen Targets
0.16Weak
anorexia nervosaOpen Targets
0.15Weak
intelligenceOpen Targets
0.15Weak
inflammatory bowel diseaseOpen Targets
0.14Weak
ulcerative proctosigmoiditisOpen Targets
0.14Weak
Back painOpen Targets
0.13Weak
coronary artery diseaseOpen Targets
0.13Weak
mathematical abilityOpen Targets
0.10Weak
musculoskeletal system diseaseOpen Targets
0.10Weak
vertebral joint diseaseOpen Targets
0.09Suggestive
vertebral disorderOpen Targets
0.09Suggestive
sclerosing cholangitisOpen Targets
0.09Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.09Suggestive
ulcer diseaseOpen Targets
0.08Suggestive
bipolar disorderOpen Targets
0.08Suggestive
vertebral column disorderOpen Targets
0.07Suggestive
ileocolitisOpen Targets
0.07Suggestive
health study participationOpen Targets
0.07Suggestive
colitisOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PSENENProtein interaction100%PREPProtein interaction93%NCSTNProtein interaction91%ACY1Protein interaction90%MST1Protein interaction84%IST1Protein interaction79%
Tissue Expression6 tissues
Liver
100%
Heart
86%
Bone Marrow
65%
Lung
61%
Ovary
48%
Brain
37%
Gene Interaction Network
Click a node to explore
APEHPSENENPREPNCSTNACY1MST1IST1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P13798
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.87LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.72 [0.59–0.87]
RankingsWhere APEH stands among ~20K protein-coding genes
  • #5,654of 20,598
    Most Researched84
  • #7,665of 17,882
    Most Constrained (LOEUF)0.87
Genes detectedAPEH
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Shared genetic architecture of type 2 diabetes with muscle mass and function and frailty reveals comorbidity etiology and pleiotropic druggable targets.
PMID: 39710002
Metabolism · 2025
1.00
2
Identification of druggable targets in acute kidney injury by proteome- and transcriptome-wide Mendelian randomization and bioinformatics analysis.
PMID: 40148878
Biol Direct · 2025
0.90
3
HNF4A Regulated APEH Deficiency Promotes UPR Activation in Diabetic Kidney Disease.
PMID: 40396970
FASEB J · 2025
0.80
4
Polymorphism of regulatory region of APEH gene (c.-521G>C, rs4855883) as a relevant predictive factor for radiotherapy induced oral mucositis and overall survival in head neck cancer patients.
PMID: 30038710
Oncotarget · 2018
0.70
5
Combining mitochondrial proteomes and Mendelian randomization to identify novel therapeutic targets for diabetic nephropathy.
PMID: 40125968
Ren Fail · 2025
0.60