XPNPEP1 Gene: X-Prolyl Aminopeptidase 1
A comprehensive resource for XPNPEP1, including genomic data, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | XPNPEP1 |
|---|---|
| Full Name | X-prolyl aminopeptidase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q25.3 |
| NCBI Gene ID | 7511 ncbi.nlm.nih.gov/gene/7511 |
| Ensembl ID | ENSG00000108039 |
| UniProt ID | Q9NQW7 |
| OMIM ID | 602443 |
| HGNC ID | 12824 |
| Aliases | APP1, XPNPEPL, XPNPEP1L, aminopeptidase P |
Description
XPNPEP1 encodes a cytosolic aminopeptidase that specifically removes N-terminal X-Pro residues from peptides. It is involved in protein maturation and degradation, and has been implicated in collagen metabolism and blood pressure regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertension | Altered peptide processing affecting vasoactive peptides | PMID: 15117842 |
| Pulmonary hypertension | Dysregulation of bradykinin metabolism | PMID: 20031595 |
| Cancer (colorectal) | Overexpression linked to tumor progression | PMID: 24122781 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Heart | 6.1 | Low |
| Brain | 4.7 | Low |
| Lung | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HepG2 | 9.8 | Medium expression |
| A549 | 5.4 | Low expression |
| MCF7 | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112G>A (p.Gly38Arg) | Missense | <0.01% | Unknown functional effect |
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Potential loss of function |
| c.1022_1023del (p.Leu341Argfs*12) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants likely lead to truncated, non-functional protein.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • aminopeptidase activity | • metallopeptidase activity |
| • proteolysis | • peptide metabolic process |
| • cytoplasm |
Pathways
• Collagen degradation (Reactome: R-HSA-1442490)
• Peptide hormone metabolism (Reactome: R-HSA-422085)
Protein Summary
XPNPEP1 is a 623-amino acid cytosolic metalloaminopeptidase that hydrolyzes N-terminal X-Pro bonds. It contains a conserved zinc-binding motif and is widely expressed, with highest levels in kidney and liver. The enzyme plays a role in processing of collagen fragments and bioactive peptides.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| XPNPEP1 Knockout HEK293 Cell Line | EDJ-KQ6020 | Human | 7511 | Details Get a Quote |
| XPNPEP1 Knockout HCT 116 Cell Line | EDJ-KQ28352 | Human | 7511 | Details Get a Quote |
| XPNPEP1 Knockout A-549 Cell Line | EDJ-KQ29637 | Human | 7511 | Details Get a Quote |
| XPNPEP1 Knockout HeLa Cell Line | EDJ-KQ29639 | Human | 7511 | Details Get a Quote |
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