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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PGPEP1
pyroglutamyl-peptidase I
Chromosome 19 · 19p13.11
NCBI Gene: 54858Ensembl: ENSG00000130517.14HGNC: HGNC:13568UniProt: Q9NXJ5
28PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein catabolic processpeptidase activityproteolysiscytoplasmhypertensionessential hypertensionsmoking initiationatrial fibrillation
✦AI Summary

PGPEP1 encodes pyroglutamyl-peptidase I, an enzyme that removes 5-oxoproline (pyroglutamate) residues from the N-terminus of peptides and proteins 1. This enzymatic activity makes modified proteins more susceptible to degradation by other proteases, as demonstrated in studies of gluten peptide processing where pyroglutamate modification can render peptides resistant to proteolytic degradation 1. However, comprehensive functional genomics analysis found no evidence for PGPEP1 involvement in coeliac disease pathology despite its location in a disease susceptibility locus 1. The gene has been implicated in metabolic regulation, with knockdown studies in Drosophila showing significant effects on fat storage and triglyceride levels, suggesting a role in adiposity control 2. Additionally, PGPEP1 expression is developmentally regulated in the hypothalamus, with decreased expression observed during neonatal maternal deprivation in mice, indicating potential involvement in early feeding responses 3. Beyond protein function, circular RNA derived from PGPEP1 (circPGPEP1) has emerged as an oncogenic factor in multiple cancers including colorectal, renal cell, and gastric cancers, where it promotes cell proliferation, metastasis, and immune escape through microRNA sponging mechanisms 456.

Sources cited
1
PGPEP1 encodes pyroglutamyl-peptidase I that removes pyroglutamate residues and makes proteins more susceptible to proteolytic degradation
PMID: 16702853
2
PGPEP1 knockdown in Drosophila affects fat storage and triglyceride levels
PMID: 29608557
3
PGPEP1 expression is decreased during neonatal maternal deprivation in mouse hypothalamus
PMID: 20195375
4
CircPGPEP1 promotes colorectal cancer malignancy and immune escape
PMID: 37424115
5
CircPGPEP1 promotes renal cell carcinoma proliferation and metastasis
PMID: 37722013
6
CircPGPEP1 promotes gastric cancer progression through microRNA sponging
PMID: 33386518
Disease Associationsⓘ20
hypertensionOpen Targets
0.27Weak
essential hypertensionOpen Targets
0.22Weak
smoking initiationOpen Targets
0.21Weak
atrial fibrillationOpen Targets
0.17Weak
obesityOpen Targets
0.17Weak
intelligenceOpen Targets
0.17Weak
gastroesophageal reflux diseaseOpen Targets
0.16Weak
heart diseaseOpen Targets
0.15Weak
cardiovascular diseaseOpen Targets
0.15Weak
psychiatric disorderOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
Familial prostate cancerOpen Targets
0.11Weak
gastric cancerOpen Targets
0.09Suggestive
diffuse large B-cell lymphomaOpen Targets
0.06Suggestive
esophageal diseaseOpen Targets
0.06Suggestive
diabetes mellitusOpen Targets
0.06Suggestive
neurodegenerative diseaseOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.05Suggestive
Alzheimer diseaseOpen Targets
0.05Suggestive
hyperemesis gravidarumOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CTRLShared pathway100%PRSS16Shared pathway100%DPP7Shared pathway100%PREPProtein interaction95%GRPProtein interaction76%NTSProtein interaction76%
Tissue Expression6 tissues
Liver
100%
Heart
59%
Brain
39%
Ovary
39%
Lung
39%
Bone Marrow
37%
Gene Interaction Network
Click a node to explore
PGPEP1CTRLPRSS16DPP7PREPGRPNTS
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NXJ5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.25LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.82 [0.56–1.25]
RankingsWhere PGPEP1 stands among ~20K protein-coding genes
  • #12,415of 20,598
    Most Researched28
  • #13,199of 17,882
    Most Constrained (LOEUF)1.25
Genes detectedPGPEP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetic and functional analysis of pyroglutamyl-peptidase I in coeliac disease.
PMID: 16702853
Eur J Gastroenterol Hepatol · 2006
1.00
2
Circular RNA PGPEP1 induces colorectal cancer malignancy and immune escape.
PMID: 37424115
Cell Cycle · 2023
0.90
3
The impact of growth differentiation factor 15 on the risk of cardiovascular diseases: two-sample Mendelian randomization study.
PMID: 33115406
BMC Cardiovasc Disord · 2020
0.80
4
A Transcriptome-Wide Association Study Identifies Novel Candidate Susceptibility Genes for Pancreatic Cancer.
PMID: 31917448
J Natl Cancer Inst · 2020
0.70
5
A high throughput, functional screen of human Body Mass Index GWAS loci using tissue-specific RNAi Drosophila melanogaster crosses.
PMID: 29608557
PLoS Genet · 2018
0.60