DPEP3 Gene - Dipeptidase 3
Membrane-bound dipeptidase involved in renal and reproductive biology
Gene Information Card
| Symbol | DPEP3 |
|---|---|
| Full Name | Dipeptidase 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 64180 ncbi.nlm.nih.gov/gene/64180 |
| Ensembl ID | ENSG00000141084 |
| UniProt ID | Q9H4B8 |
| OMIM ID | 609172 |
| HGNC ID | 26417 |
| Aliases | MBD3, MDP, RDP |
Description
DPEP3 (Dipeptidase 3) encodes a membrane-bound zinc metallopeptidase that hydrolyzes dipeptides, particularly cystinyl-bis-glycine, a metabolite of glutathione. The protein is anchored to the plasma membrane via a glycosylphosphatidylinositol (GPI) linkage and is highly expressed in kidney and testis. It plays roles in renal peptide metabolism and sperm maturation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Renal cell carcinoma | Altered DPEP3 expression may affect glutathione metabolism and oxidative stress response | COSMIC; NCBI Gene |
| Prostate cancer | DPEP3 expression changes observed in tumor tissues | COSMIC |
| Male infertility | DPEP3 involved in sperm maturation; variants may impair fertility | OMIM 609172 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 45.2 | High |
| Testis | 28.7 | Medium |
| Liver | 3.1 | Low |
| Lung | 1.8 | Low |
| Brain | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.4 | Embryonic kidney cells |
| HepG2 | 2.1 | Hepatocellular carcinoma |
| A549 | 0.9 | Lung carcinoma |
| PC-3 | 5.6 | Prostate cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T | Missense | 0.01% | p.Thr125Met; potential loss of function |
| c.482G>A | Missense | 0.005% | p.Arg161Gln; uncertain significance |
| c.1A>G | Start loss | Rare | p.Met1?; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss and missense variants that disrupt catalytic activity or membrane localization are predicted loss-of-function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • hydrolase activity (GO:0016787) | • metallopeptidase activity (GO:0008237) |
| • proteolysis (GO:0006508) | • plasma membrane (GO:0005886) |
| • anchored component of membrane (GO:0031225) |
Pathways
• Glutathione metabolism (Reactome: R-HSA-174403)
• Peptide hormone metabolism (Reactome: R-HSA-422085)
Protein Summary
DPEP3 is a GPI-anchored membrane dipeptidase that cleaves dipeptides, including cystinyl-bis-glycine. It is predominantly expressed in kidney and testis, contributing to renal peptide turnover and sperm function. Mutations may affect enzyme activity and are associated with renal and reproductive disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DPEP3 Knockout HEK293 Cell Line | EDJ-KQ13203 | Human | 64180 | Details Get a Quote |
| DPEP3 Knockout HeLa Cell Line | EDJ-KQ57040 | Human | 64180 | Details Get a Quote |
| DPEP3 Knockout A-549 Cell Line | EDJ-KQ65547 | Human | 64180 | Details Get a Quote |
| DPEP3 Knockout HCT 116 Cell Line | EDJ-KQ73979 | Human | 64180 | Details Get a Quote |
