ENPEP (Glutamyl Aminopeptidase) Gene
A comprehensive resource on ENPEP gene function, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | ENPEP |
|---|---|
| Full Name | Glutamyl aminopeptidase |
| Gene Type | protein-coding |
| Chromosomal Location | 4q25 |
| NCBI Gene ID | 2028 ncbi.nlm.nih.gov/gene/2028 |
| Ensembl ID | ENSG00000138698 |
| UniProt ID | Q07075 |
| OMIM ID | 138297 |
| HGNC ID | 3355 |
| Aliases | APA, gp160, CD249, aminopeptidase A |
Description
ENPEP encodes glutamyl aminopeptidase (also known as aminopeptidase A or APA), a zinc-dependent membrane-bound enzyme that cleaves N-terminal glutamyl or aspartyl residues from peptides. It plays a role in the renin-angiotensin system by converting angiotensin II to angiotensin III, and is involved in blood pressure regulation, angiogenesis, and immune modulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertension | ENPEP degrades angiotensin II; altered activity may affect blood pressure regulation. | OMIM 138297; NCBI Gene 2028 |
| Preeclampsia | Reduced placental ENPEP expression may contribute to hypertension in pregnancy. | NCBI Gene 2028; PubMed studies |
| Colorectal cancer | ENPEP overexpression is associated with tumor progression and poor prognosis. | COSMIC; PubMed studies |
| Breast cancer | ENPEP expression correlates with estrogen receptor status and metastasis. | COSMIC; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Small intestine | 8.3 | Medium |
| Placenta | 6.7 | Low |
| Lung | 4.2 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression in embryonic kidney cells |
| HCT 116 | 9.8 | Colorectal carcinoma cell line |
| MCF7 | 5.4 | Breast cancer cell line |
| A549 | 3.1 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | 0.01% | Unknown functional effect |
| c.567C>T (p.Arg189Trp) | Missense | 0.005% | Potential loss of function |
| c.2345_2346insA | Frameshift | 0.001% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of enzymatic activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported in ENPEP.
Dominant Negative (DN)
No dominant-negative mutations have been described.
View complete mutation data：
Gene Ontology (GO)
| • aminopeptidase activity (GO:0004177) | • proteolysis (GO:0006508) |
| • plasma membrane (GO:0005886) | • peptidase activity (GO:0008233) |
| • zinc ion binding (GO:0008270) | • hydrolase activity (GO:0016787) |
Pathways
• Renin-angiotensin system (RAS)
• Angiotensin II degradation
• Peptide hormone metabolism
Protein Summary
Glutamyl aminopeptidase (APA) is a type II transmembrane protein with a short cytoplasmic tail, a transmembrane domain, and a large extracellular catalytic domain. It requires zinc for activity and specifically cleaves N-terminal acidic amino acids. APA is involved in the regulation of blood pressure via angiotensin processing and is expressed on endothelial cells, renal tubules, and immune cells. Its expression is altered in several cancers and hypertensive disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ENPEP Knockout HEK293 Cell Line | EDJ-KQ4530 | Human | 2028 | Details Get a Quote |
| ENPEP Knockout HCT 116 Cell Line | EDJ-KQ27146 | Human | 2028 | Details Get a Quote |
| ENPEP Knockout HeLa Cell Line | EDJ-KQ53161 | Human | 2028 | Details Get a Quote |
| ENPEP Knockout A-549 Cell Line | EDJ-KQ61637 | Human | 2028 | Details Get a Quote |
