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9 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RNPEP
arginyl aminopeptidase
Chromosome 1 · 1q32.1
NCBI Gene: 6051Ensembl: ENSG00000176393.12HGNC: HGNC:10078UniProt: Q9H4A4
68PubMed Papers
20Diseases
1Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
CLINICAL
Clinical Trials
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular regionextracellular exosomeaminopeptidase activitymetalloaminopeptidase activityobstructive sleep apneaexternal ear diseaseacute myeloid leukemiamyelodysplastic syndrome
✦AI Summary

RNPEP (arginyl aminopeptidase) is a zinc-dependent metalloexopeptidase that selectively removes arginine and/or lysine residues from the N-terminus of peptide substrates 1. The protein contains the canonical M1 metallopeptidase signature sequence and is ubiquitously expressed across human tissues with variable expression levels 1. RNPEP participates in neuropeptide processing alongside other proteases, displaying relatively even expression throughout human brain regions including the hypothalamus 2. In disease contexts, RNPEP serves as a potential biomarker for small cell lung cancer (SCLC), being identified as a marker for NEUROD1-high SCLC subtypes in bronchoalveolar lavage fluid 3. Most notably, tumor-derived exosomal RNPEP promotes hepatocellular carcinoma lung metastasis by activating cancer-associated fibroblasts through NF-κB signaling, with elevated RNPEP levels detected in plasma of HCC patients 4. RNPEP has been identified as differentially expressed in esophageal carcinoma cells 5 and is part of the local bone marrow renin-angiotensin system involved in hematopoietic regulation 6. Additionally, reduced RNPEP abundance in sperm is associated with obesity-related male subfertility 7, and genetic variation at the RNPEP locus affects serum butyrylcholinesterase activity independent of metabolic factors 8.

Sources cited
1
RNPEP is a Zn2+-metalloexopeptidase that selectively removes Arg/Lys from N-terminus of peptides; contains M1 family metallopeptidase signature; ubiquitously expressed with tissue-specific variation
PMID: 12119107
2
RNPEP is an exopeptidase involved in neuropeptide production in human brain with relatively even expression across 169 brain regions
PMID: 29998195
3
RNPEP identified as potential subtype marker for NEUROD1-high SCLC in bronchoalveolar lavage fluid proteomic analysis
PMID: 36807835
4
Tumor exosomal RNPEP highly expressed in HCC patient plasma; promotes lung metastasis via CAF activation through NF-κB signaling pathway
PMID: 39658708
5
RNPEP-like protein identified as differentially expressed between normal and malignant esophageal cell lines
PMID: 12378614
6
RNPEP is part of local bone marrow renin-angiotensin system involved in hematopoietic niche control and myelopoiesis
PMID: 27775788
7
RNPEP abundance is reduced in sperm of obese men, associated with impaired sperm function and subfertility
PMID: 32026202
8
RNPEP locus genetic variants significantly associated with serum butyrylcholinesterase activity independent of metabolic risk factors
PMID: 21862451
Disease Associationsⓘ20
obstructive sleep apneaOpen Targets
0.31Weak
external ear diseaseOpen Targets
0.20Weak
acute myeloid leukemiaOpen Targets
0.10Suggestive
myelodysplastic syndromeOpen Targets
0.10Suggestive
Blackfan-Diamond anemiaOpen Targets
0.08Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.08Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.08Suggestive
acute myeloid leukemia by FAB classificationOpen Targets
0.07Suggestive
inosine triphosphatase deficiencyOpen Targets
0.07Suggestive
alpha thalassemia-intellectual disability syndrome type 1Open Targets
0.07Suggestive
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16Open Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
delta-beta-thalassemiaOpen Targets
0.06Suggestive
Autosomal dominant methemoglobinemiaOpen Targets
0.06Suggestive
hemoglobin D diseaseOpen Targets
0.06Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.06Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.06Suggestive
beta thalassemiaOpen Targets
0.05Suggestive
Beta-thalassemiaOpen Targets
0.05Suggestive
beta-thalassemia HBB/LCRBOpen Targets
0.05Suggestive
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
PGA4Shared pathway100%PGA3Shared pathway100%CAPN14Shared pathway100%CTRB2Shared pathway100%CAPN8Shared pathway100%PRSS48Shared pathway100%
Tissue Expression6 tissues
Lung
100%
Liver
80%
Ovary
75%
Bone Marrow
65%
Brain
60%
Heart
38%
Gene Interaction Network
Click a node to explore
RNPEPPGA4PGA3CAPN14CTRB2CAPN8PRSS48
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H4A4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.96LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.73 [0.56–0.96]
RankingsWhere RNPEP stands among ~20K protein-coding genes
  • #6,945of 20,598
    Most Researched68
  • #9,050of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedRNPEP
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
Human aminopeptidase B (rnpep) on chromosome 1q32.2: complementary DNA, genomic structure and expression.
PMID: 12119107
Gene · 2002
1.00
2
Quantitative proteomic analysis of bronchoalveolar lavage fluids from patients with small cell lung cancers.
PMID: 36807835
Proteomics Clin Appl · 2023
0.89
3
Human brain gene expression profiles of the cathepsin V and cathepsin L cysteine proteases, with the PC1/3 and PC2 serine proteases, involved in neuropeptide production.
PMID: 29998195
Heliyon · 2018
0.78
4
Tumor exosomal RNPEP promotes lung metastasis of liver cancer via inducing cancer-associated fibroblast activation.
PMID: 39658708
Cancer Sci · 2025
0.67
5
Assignment of the aminopeptidase B gene (RNPEP) to human chromosome 1 band q32 by in situ hybridization.
PMID: 9533033
Cytogenet Cell Genet · 1997
0.56