XPNPEP1

Chr 10

X-prolyl aminopeptidase 1

Also known as: APP1, SAMP, XPNPEP, XPNPEPL, XPNPEPL1

NCBI Gene: 7511ENSG00000108039UniProt: Q9NQW7OMIM: 602443

This gene encodes the cytosolic form of a metalloaminopeptidase that catalyzes the cleavage of the N-terminal amino acid adjacent to a proline residue. The gene product may play a role in degradation and maturation of tachykinins, neuropeptides, and peptide hormones. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Nov 2009]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.40
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.40LOEUF
pLI 0.333
Z-score 4.49
OE 0.23 (0.14–0.40)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.42Z-score
OE missense 0.65 (0.59–0.72)
253 obs / 387.3 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.23 (0.14–0.40)
0≤0.351.4
Missense OE?0.65 (0.59–0.72)
0≤0.61.4
Synonymous OE?1.13
0≤1.21.6
LoF obs/exp: 9 / 39.4Missense obs/exp: 253 / 387.3Syn Z: -1.18

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

XPNPEP1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients