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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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XPNPEP1
X-prolyl aminopeptidase 1
Chromosome 10 · 10q25.1
NCBI Gene: 7511Ensembl: ENSG00000108039.18HGNC: HGNC:12822UniProt: Q5T6H7
62PubMed Papers
20Diseases
1Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
CLINICAL
Clinical Trials
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
aminopeptidase activitymanganese ion bindingprotein homodimerization activitymetalloaminopeptidase activitybipolar I disorderbipolar disorderHypercholesterolemiamathematical ability
✦AI Summary

XPNPEP1 (X-prolyl aminopeptidase 1) is a metalloaminopeptidase that catalyzes removal of penultimate prolyl residues from N-terminal peptides, such as Arg-Pro-Pro 1. It contributes to degradation of bradykinin 1 and is a dual target alongside PEPD for inhibition studies on inflammasome activation 2. The gene is localized to chromosome 10.3 3. Cellularly, XPNPEP1 is primarily expressed in neurons within the hippocampus 4. The enzyme plays a critical role in preventing replication-associated genome instability; XPNPEP1 depletion causes double-strand break (DSB) accumulation in human mitotically-proliferating cells, though it is not required for DSB repair itself 5. XPNPEP1 deficiency causes neurological complications with hippocampal neurodegeneration, impaired learning and memory, and altered glial populations including reduced astrocytes and increased microglia density 4. The gene is also associated with disease susceptibility; it was identified as a risk factor in lung adenocarcinoma prognosis 6 and as a potentially druggable target linked to psychiatric disorder pathogenesis through immune-related mechanisms 7. Additionally, XPNPEP1 was identified as a susceptibility gene in rheumatoid arthritis 8.

Sources cited
1
XPNPEP1 catalyzes removal of penultimate prolyl residues from N-terminal peptides and contributes to bradykinin degradation
PMID: 11106490
2
XPNPEP1 is a dual target with PEPD for M24B aminopeptidase inhibition in CARD8 inflammasome activation studies
PMID: 36724486
3
XPNPEP1 gene is localized to chromosome 10q25.3 and encodes soluble aminopeptidase P
PMID: 10871044
4
XPNPEP1 is expressed primarily in hippocampal neurons; deficiency causes neurodegeneration, altered glial populations, and impaired learning and memory
PMID: 33441619
5
XPNPEP1 depletion causes double-strand break accumulation in human cells and prevents replication-associated genome instability without being required for DSB repair
PMID: 35081133
6
XPNPEP1 is identified as a risk factor in lung adenocarcinoma prognosis based on hypoxia-associated gene analysis
PMID: 37576511
7
XPNPEP1 is a potentially druggable target associated with psychiatric disorder pathogenesis through immune-related mechanisms
PMID: 39491680
8
XPNPEP1 is identified as a susceptibility gene for rheumatoid arthritis through transcriptome-wide association analysis
PMID: 33482886
Disease Associationsⓘ20
bipolar I disorderOpen Targets
0.30Weak
bipolar disorderOpen Targets
0.30Weak
HypercholesterolemiaOpen Targets
0.28Weak
mathematical abilityOpen Targets
0.26Weak
Escherichia coli InfectionsOpen Targets
0.17Weak
preeclampsiaOpen Targets
0.15Weak
biliary atresiaOpen Targets
0.10Suggestive
acute myeloid leukemiaOpen Targets
0.10Suggestive
myelodysplastic syndromeOpen Targets
0.10Suggestive
acute myeloid leukemia by FAB classificationOpen Targets
0.07Suggestive
Crohn ileitisOpen Targets
0.07Suggestive
AlkalosisOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.05Suggestive
device complicationOpen Targets
0.04Suggestive
X-Linked Combined Immunodeficiency DiseasesOpen Targets
0.03Suggestive
adolescent idiopathic scoliosisOpen Targets
0.03Suggestive
gestational diabetesOpen Targets
0.02Suggestive
infectionOpen Targets
0.02Suggestive
Abnormality of refractionOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
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
LAP3Protein interaction96%XPNPEP3Protein interaction89%KNG1Protein interaction82%PEPDShared pathway50%DPP8Shared pathway50%DPP9Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
59%
Heart
57%
Ovary
56%
Liver
40%
Brain
38%
Gene Interaction Network
Click a node to explore
XPNPEP1LAP3XPNPEP3KNG1PEPDDPP8DPP9
PROTEIN STRUCTURE
Preparing viewer…
PDB3CTZ · 1.60 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.55Moderately Constrained
pLIⓘ
0.24Tolerant
Observed/Expected LoF0.41 [0.31–0.55]
RankingsWhere XPNPEP1 stands among ~20K protein-coding genes
  • #7,523of 20,598
    Most Researched62
  • #3,473of 17,882
    Most Constrained (LOEUF)0.55 · top quartile
Genes detectedXPNPEP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genomically Complex Human Angiosarcoma and Canine Hemangiosarcoma Establish Convergent Angiogenic Transcriptional Programs Driven by Novel Gene Fusions.
PMID: 33649193
Mol Cancer Res · 2021
1.00
2
Optimized M24B Aminopeptidase Inhibitors for CARD8 Inflammasome Activation.
PMID: 36724486
J Med Chem · 2023
0.90
3
Cloning, chromosomal sublocalization of the human soluble aminopeptidase P gene (XPNPEP1) to 10q25.3 and conservation of the putative proton shuttle and metal ligand binding sites with XPNPEP2.
PMID: 10871044
Arch Biochem Biophys · 2000
0.80
4
Altered hippocampal gene expression, glial cell population, and neuronal excitability in aminopeptidase P1 deficiency.
PMID: 33441619
Sci Rep · 2021
0.70
5
The hypoxia-associated genes in immune infiltration and treatment options of lung adenocarcinoma.
PMID: 37576511
PeerJ · 2023
0.60