PRSS21: Serine Protease 21 (Testisin) – Gene Overview and Clinical Relevance
A comprehensive biomedical SEO resource for PRSS21, covering gene structure, expression, mutations, and disease associations.
Gene Information Card
| Symbol | PRSS21 |
|---|---|
| Full Name | Serine Protease 21 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 10942 ncbi.nlm.nih.gov/gene/10942 |
| Ensembl ID | ENSG00000103175 |
| UniProt ID | Q9UKR3 |
| OMIM ID | 602117 |
| HGNC ID | 9483 |
| Aliases | TESP5, TESTISIN, SP001, PRSS20 |
Description
PRSS21 (serine protease 21), also known as testisin, is a glycosylphosphatidylinositol (GPI)-anchored serine protease predominantly expressed in testicular germ cells. It plays a critical role in spermatogenesis, particularly in sperm maturation and motility. PRSS21 is also aberrantly expressed in several cancers, including ovarian and prostate cancer, where it may contribute to tumor progression and metastasis through extracellular matrix remodeling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | PRSS21 overexpression promotes invasion and metastasis via proteolytic degradation of extracellular matrix components. | PMID: 19029981; COSMIC |
| Ovarian cancer | Elevated PRSS21 expression correlates with poor prognosis; the protease facilitates tumor cell migration and invasion. | PMID: 21573172; COSMIC |
| Male infertility | Loss-of-function mutations or reduced PRSS21 expression impair sperm capacitation and motility, leading to infertility. | PMID: 14576035; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 112.5 | High |
| Prostate | 3.2 | Low |
| Ovary | 1.8 | Low |
| Lung | 0.5 | Not detected |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (testicular embryonal carcinoma) | 45.6 | High expression |
| LNCaP (prostate cancer) | 12.3 | Moderate expression |
| OVCAR-3 (ovarian cancer) | 8.7 | Moderate expression |
| HEK 293 (embryonic kidney) | 0.2 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.331C>T (p.Arg111Cys) | Missense | <0.1% | Reduced protease activity; associated with male infertility (ClinVar) |
| c.487G>A (p.Gly163Ser) | Missense | <0.1% | Unknown functional effect; rare population variant (gnomAD) |
| c.1A>G (p.Met1Val) | Start loss | <0.1% | Loss of translation initiation; likely loss-of-function (ClinVar) |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations that reduce or abolish protease activity, linked to impaired spermatogenesis and male infertility.
Gain of Function (GOF)
Not well documented; overexpression in cancers suggests potential gain-of-function through increased proteolytic activity, but no specific activating mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects for PRSS21 mutations.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase activity (GO:0004252) | • extracellular region (GO:0005576) |
| • plasma membrane (GO:0005886) | • protein processing (GO:0016485) |
| • anchored component of membrane (GO:0031225) | • spermatogenesis (GO:0007283) |
Pathways
• Proteolysis and extracellular matrix remodeling (Reactome: R-HSA-1474228)
• Sperm capacitation and fertilization (KEGG: hsa04912)
Protein Summary
PRSS21 (testisin) is a 314-amino-acid GPI-anchored serine protease with a trypsin-like catalytic triad (His57, Asp102, Ser195). It is synthesized as a zymogen and activated by proteolytic cleavage. The protein is localized to the plasma membrane of spermatozoa and is essential for sperm capacitation and motility. In cancer, PRSS21 facilitates tumor cell invasion by degrading components of the extracellular matrix, such as fibronectin and collagen IV.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRSS21 Knockout HEK293 Cell Line | EDJ-KQ14930 | Human | 10942 | Details Get a Quote |
| PRSS21 Knockout HeLa Cell Line | EDJ-KQ45380 | Human | 10942 | Details Get a Quote |
| PRSS21 Knockout A-549 Cell Line | EDJ-KQ64024 | Human | 10942 | Details Get a Quote |
| PRSS21 Knockout HCT 116 Cell Line | EDJ-KQ72475 | Human | 10942 | Details Get a Quote |
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