PRSS8 (Prostasin) Gene
A serine protease involved in epithelial sodium channel regulation and blood pressure control
Gene Information Card
| Symbol | PRSS8 |
|---|---|
| Full Name | Serine Protease 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 5654 ncbi.nlm.nih.gov/gene/5654 |
| Ensembl ID | ENSG00000103175 |
| UniProt ID | Q16651 |
| OMIM ID | 600823 |
| HGNC ID | 9491 |
| Aliases | CAP1, PROSTASIN |
Description
PRSS8 encodes prostasin, a glycosylphosphatidylinositol (GPI)-anchored serine protease primarily expressed in epithelial tissues. Prostasin activates the epithelial sodium channel (ENaC) by proteolytic cleavage, playing a critical role in sodium homeostasis, blood pressure regulation, and fluid balance. Mutations in PRSS8 are associated with hypertension and Liddle syndrome-like phenotypes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertension | Loss of prostasin function reduces ENaC activation, impairing sodium reabsorption and leading to hypotension; gain-of-function increases ENaC activity, causing hypertension. | ClinVar, OMIM |
| Liddle syndrome | Activating mutations in PRSS8 enhance ENaC proteolysis, mimicking Liddle syndrome with early-onset hypertension and hypokalemia. | OMIM, PubMed |
| Prostate cancer | Prostasin expression is altered in prostate cancer; downregulation correlates with tumor progression and metastasis. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Prostate | 6.1 | Low |
| Colon | 4.7 | Low |
| Skin | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| A549 | 9.8 | Lung carcinoma line |
| LNCaP | 5.4 | Prostate cancer line |
| Caco-2 | 4.1 | Colorectal adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112G>A (p.Gly38Arg) | Missense | 0.01% | Reduced prostasin activity; associated with hypotension |
| c.365C>T (p.Thr122Met) | Missense | 0.005% | Gain-of-function; linked to hypertension |
| c.523G>A (p.Gly175Ser) | Missense | 0.02% | Loss-of-function; impaired ENaC activation |
Mutation functional classification
Loss of Function (LOF)
Mutations such as p.Gly38Arg reduce prostasin proteolytic activity, decreasing ENaC cleavage and sodium reabsorption, leading to hypotension.
Gain of Function (GOF)
Mutations like p.Thr122Met enhance prostasin activity, increasing ENaC cleavage and sodium retention, causing hypertension.
Dominant Negative (DN)
No dominant-negative mutations reported for PRSS8.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase activity | • proteolysis |
| • extracellular region | • cell surface |
| • sodium ion homeostasis | • regulation of blood pressure |
Pathways
• Aldosterone-regulated sodium reabsorption
• ENaC activation pathway
Protein Summary
Prostasin is a 343-amino acid GPI-anchored serine protease expressed on the apical membrane of epithelial cells. It cleaves and activates the gamma subunit of ENaC, facilitating sodium transport. The protein is synthesized as a zymogen and activated by autocatalytic cleavage. Prostasin also modulates cell adhesion and invasion in cancer contexts.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRSS8 Knockout HEK293 Cell Line | EDJ-KQ5558 | Human | 5652 | Details Get a Quote |
| PRSS8 Knockout HCT 116 Cell Line | EDJ-KQ28824 | Human | 5652 | Details Get a Quote |
| PRSS8 Knockout HeLa Cell Line | EDJ-KQ54234 | Human | 5652 | Details Get a Quote |
| PRSS8 Knockout A-549 Cell Line | EDJ-KQ62726 | Human | 5652 | Details Get a Quote |
