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27 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ERAP1
endoplasmic reticulum aminopeptidase 1
Chromosome 5 · 5q15
NCBI Gene: 51752Ensembl: ENSG00000164307.14HGNC: HGNC:18173UniProt: A0A075BTL2
264PubMed Papers
20Diseases
1Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
RESEARCH IMPACT
Trending
CLINICAL
Clinical Trials
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingextracellular exosomeantigen processing and presentation of peptide antigen via MHC class Imembrane protein ectodomain proteolysispsoriasisankylosing spondylitishypertensioniridocyclitis
✦AI Summary

ERAP1 is an endoplasmic reticulum aminopeptidase that plays a central role in peptide trimming, essential for generating MHC class I-binding peptides 1. The enzyme preferentially processes peptides 9-16 residues long, rapidly converting 13-mers to 9-mers while favoring substrates with hydrophobic C-termini [UniProt]. This peptide trimming shapes the HLA class I peptidome, directly affecting both adaptive and innate immune responses 2. ERAP1 genetic variants are significantly associated with multiple diseases. Specific polymorphisms (rs30187 and rs27524) increase psoriasis susceptibility 3, while ERAP1 expression is frequently altered in tumors, influencing anti-tumor immunity 1. Notably, ERAP1 variants with reduced endopeptidase activity appear protective against ankylosing spondylitis, a strong HLA-B27-associated condition 4. Recent evidence demonstrates that ERAP1 loss disrupts the NKG2A-HLA-E inhibitory checkpoint by altering the HLA-E peptidome, enhancing antitumor immunity and sensitizing tumors to immune checkpoint blockade 5. This suggests ERAP1 inhibition represents a potential therapeutic strategy for both autoimmune diseases and cancer immunotherapy.

Sources cited
1
ERAP1 is a multifunctional enzyme involved in trimming substrates for MHC class I peptide generation, and its expression is frequently altered in tumors
PMID: 30825518
2
ERAP enzymes trim peptides to optimal size in MHC class I-mediated antigen presentation and genetic variations increase susceptibility to autoimmune, infectious diseases, and cancers
PMID: 30797823
3
ERAP1 polymorphisms rs30187 and rs27524 are associated with increased psoriasis susceptibility
PMID: 34395615
4
ERAP1 variants with reduced endopeptidase activity are protective against ankylosing spondylitis, suggesting ERAP1 inhibition could be therapeutic
PMID: 23452840
5
ERAP1 loss disrupts the NKG2A-HLA-E inhibitory checkpoint by altering HLA-E peptidome, enhancing antitumor immunity and sensitizing tumors to immune checkpoint blockade
PMID: 39561763
Disease Associationsⓘ20
psoriasisOpen Targets
0.55Moderate
ankylosing spondylitisOpen Targets
0.52Moderate
hypertensionOpen Targets
0.51Moderate
iridocyclitisOpen Targets
0.45Moderate
anterior uveitisOpen Targets
0.42Moderate
peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndromeOpen Targets
0.40Weak
type 2 diabetes mellitusOpen Targets
0.35Weak
Increased blood pressureOpen Targets
0.34Weak
ulcerative colitisOpen Targets
0.33Weak
Behcet's syndromeOpen Targets
0.33Weak
inflammatory spondylopathyOpen Targets
0.33Weak
response to xenobiotic stimulusOpen Targets
0.32Weak
sclerosing cholangitisOpen Targets
0.32Weak
Crohn's diseaseOpen Targets
0.31Weak
cardiovascular diseaseOpen Targets
0.30Weak
skin diseaseOpen Targets
0.30Weak
autoimmune diseaseOpen Targets
0.27Weak
reactive arthritisOpen Targets
0.26Weak
corneal diseaseOpen Targets
0.24Weak
scleral disorderOpen Targets
0.24Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets1
TOSEDOSTATPhase II
Aminopeptidase inhibitor
acute myeloid leukemia by FAB classification
Related Genes
NUCB2Protein interaction92%HLA-CProtein interaction89%HLA-BProtein interaction88%TPP2Protein interaction87%TAPBPProtein interaction83%IL23RProtein interaction80%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
96%
Lung
89%
Liver
60%
Ovary
60%
Brain
38%
Gene Interaction Network
Click a node to explore
ERAP1NUCB2HLA-CHLA-BTPP2TAPBPIL23R
PROTEIN STRUCTURE
Preparing viewer…
PDB9GK6 · 1.33 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.95LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.79 [0.66–0.95]
RankingsWhere ERAP1 stands among ~20K protein-coding genes
  • #1,423of 20,598
    Most Researched264 · top 10%
  • #8,843of 17,882
    Most Constrained (LOEUF)0.95
Genes detectedERAP1
Sources retrieved27 papers
Response time—
📄 Sources
27▼
1
Understanding the Pathogenesis of Spondyloarthritis.
PMID: 33092023
Biomolecules · 2020
1.00
2
An observational and genetic investigation into the association between psoriasis and risk of malignancy.
PMID: 39261450
Nat Commun · 2024
0.90
3
Antigen processing.
PMID: 23287556
Curr Opin Immunol · 2013
0.88
4
Regulation of ERAP1 and ERAP2 genes and their disfunction in human cancer.
PMID: 30825518
Hum Immunol · 2019
0.80
5
Influence of ERAP1 and ERAP2 gene polymorphisms on disease susceptibility in different populations.
PMID: 30797823
Hum Immunol · 2019
0.70