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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NPEPPS
aminopeptidase puromycin sensitive
Chromosome 17 · 17q21.32
NCBI Gene: 9520Ensembl: ENSG00000141279.18HGNC: HGNC:7900UniProt: A0A7I2V389
160PubMed Papers
20Diseases
1Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedProtease
RESEARCH IMPACT
Trending
CLINICAL
Clinical Trials
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
aminopeptidase activitycellular response to hypoxiapositive regulation of protein localization to mitochondrioncytosolneurodegenerative diseasemetabolic diseaseHypercholesterolemiaglaucoma
✦AI Summary

NPEPPS (puromycin-sensitive aminopeptidase) is a zinc metallopeptidase with broad substrate specificity that plays multiple critical roles in cellular proteolysis and immune function. Primary function involves N-terminal trimming of cytotoxic T-cell epitope precursors and processing of proteasome-derived peptides for MHC class I antigen presentation 1. NPEPPS catalyzes initial peptide processing upstream of ERAP1 and ERAP2 in the antigen-presentation pathway 1. The enzyme digests poly-Q peptides and tau proteins, with differential efficiency between normal and pathological tau variants [UniProt]. Beyond immunology, NPEPPS regulates intracellular cisplatin concentrations by interacting with volume-regulated anion channels (VRACs), controlling drug transport and chemotherapy sensitivity 23. NPEPPS depletion or pharmacologic inhibition sensitizes platinum-resistant bladder cancer cells to cisplatin in vitro, in vivo, and in patient-derived organoids 3. Clinically, NPEPPS is implicated in multiple immune-mediated diseases through genome-wide association studies, including ankylosing spondylitis and psoriasis, with demonstrated genetic interactions with HLA-B27 41. Recent evidence suggests NPEPPS as a potential therapeutic target for coronary atherosclerosis 5 and identifies it as a hub gene in neurodevelopmental disorders 6. The NPEPPS/VRAC expression ratio predicts cisplatin response across multiple cancer cohorts 2, establishing NPEPPS as a druggable biomarker for improving platinum-based chemotherapy outcomes.

Sources cited
1
NPEPPS interacts with volume-regulated anion channels to control cisplatin import and regulate chemotherapy sensitivity; NPEPPS/VRAC expression ratio predicts cisplatin response across cancer cohorts
PMID: 39671496
2
NPEPPS is a druggable driver of cisplatin resistance by regulating intracellular cisplatin concentrations; depletion or inhibition of NPEPPS increases cisplatin sensitivity in bladder cancer cells and patient-derived organoids
PMID: 38535994
3
NPEPPS catalyzes initial processing of proteasome-derived peptides followed by trimming by ERAP1/ERAP2 for MHC class I presentation; associated with immune-mediated diseases including ankylosing spondylitis, psoriasis, and inflammatory bowel disease
PMID: 25142031
4
NPEPPS is an aminopeptidase involved in MHC class I presentation that interacts with HLA-B27 and contributes to spondyloarthritis predisposition
PMID: 25903667
5
NPEPPS identified as potential therapeutic target for coronary atherosclerosis, with protective association in oligodendrocyte lineage cells
PMID: 40214710
6
NPEPPS identified as a hub gene in network analysis of neurodevelopmental disorders with topological centrality in developmental pathways
PMID: 40869915
7
NPEPPS identified as key gene correlated with immune infiltration and diagnosis in coronary artery disease and type 2 diabetes mellitus
PMID: 38464509
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.52Moderate
metabolic diseaseOpen Targets
0.37Weak
HypercholesterolemiaOpen Targets
0.37Weak
glaucomaOpen Targets
0.34Weak
hyperlipidemiaOpen Targets
0.33Weak
diabetes mellitusOpen Targets
0.29Weak
denturesOpen Targets
0.28Weak
hypertrophic cardiomyopathyOpen Targets
0.28Weak
alcohol drinkingOpen Targets
0.24Weak
esophageal diseaseOpen Targets
0.23Weak
open-angle glaucomaOpen Targets
0.21Weak
dental cariesOpen Targets
0.21Weak
lymphatic system diseaseOpen Targets
0.20Weak
vein disorderOpen Targets
0.20Weak
Sleep DisorderOpen Targets
0.15Weak
neoplasmOpen Targets
0.13Weak
dementiaOpen Targets
0.13Weak
ankylosing spondylitisOpen Targets
0.12Weak
posterior cortical atrophyOpen Targets
0.12Weak
prostate cancerOpen Targets
0.12Weak
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
GPRIN2Protein interaction84%HYDINProtein interaction83%NBPF1Protein interaction81%DRD5Protein interaction81%GTF2IProtein interaction81%UGT2B17Protein interaction81%
Tissue Expression6 tissues
Brain
100%
Ovary
70%
Lung
65%
Heart
46%
Liver
37%
Bone Marrow
24%
Gene Interaction Network
Click a node to explore
NPEPPSGPRIN2HYDINNBPF1DRD5GTF2IUGT2B17
PROTEIN STRUCTURE
Preparing viewer…
PDB8SW0 · 2.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.30Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.19 [0.12–0.30]
RankingsWhere NPEPPS stands among ~20K protein-coding genes
  • #2,812of 20,598
    Most Researched160 · top quartile
  • #1,129of 17,882
    Most Constrained (LOEUF)0.30 · top 10%
Genes detectedNPEPPS
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Regulation of volume-regulated anion channels alters sensitivity to platinum chemotherapy.
PMID: 39671496
Sci Adv · 2024
1.00
2
NPEPPS Is a Druggable Driver of Platinum Resistance.
PMID: 38535994
Cancer Res · 2024
0.90
3
CD8
PMID: 38464509
Front Immunol · 2024
0.80
4
Customized Chromosomal Microarrays for Neurodevelopmental Disorders.
PMID: 40869915
Genes (Basel) · 2025
0.70
5
Primary cutaneous apocrine carcinoma with RARA::NPEPPS fusion.
PMID: 38468567
J Cutan Pathol · 2024
0.68