PRSS50
Serine Protease 50 (TSP50) – Testis-Specific Protease with Potential Roles in Spermatogenesis and Cancer
Gene Information Card
| Symbol | PRSS50 |
|---|---|
| Full Name | serine protease 50 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q29 |
| NCBI Gene ID | 29122 ncbi.nlm.nih.gov/gene/29122 |
| Ensembl ID | ENSG00000163867 |
| UniProt ID | Q9UI38 |
| OMIM ID | 610949 |
| HGNC ID | 9490 |
| Aliases | TSP50, serine protease 50, testis-specific protease 50 |
Description
PRSS50 (serine protease 50), also known as TSP50, is a protein-coding gene located on chromosome 3q29. It encodes a serine protease that is predominantly expressed in testis and is involved in spermatogenesis. PRSS50 has been implicated in several cancers, including breast, colorectal, and gastric cancers, where it may act as an oncogene or tumor suppressor depending on context. The gene is also associated with male infertility and other reproductive disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | PRSS50 overexpression may promote tumorigenesis through aberrant protease activity and signaling pathway modulation. | PMID: 19651149; COSMIC |
| Colorectal Cancer | PRSS50 upregulation correlates with poor prognosis and may enhance cell proliferation and invasion. | PMID: 23468904; COSMIC |
| Gastric Cancer | PRSS50 expression is elevated in gastric tumors and linked to metastasis. | PMID: 25846778; COSMIC |
| Male Infertility | PRSS50 mutations or reduced expression impair spermatogenesis, leading to azoospermia or oligospermia. | PMID: 21595887; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | High |
| Prostate | 1.2 | Low |
| Breast | 0.8 | Low |
| Colon | 0.5 | Low |
| Stomach | 0.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (testicular embryonal carcinoma) | 15.1 | High expression; relevant to testis lineage |
| MCF-7 (breast cancer) | 4.2 | Moderate expression; associated with oncogenic role |
| HCT-116 (colorectal cancer) | 3.8 | Moderate expression; linked to poor prognosis |
| AGS (gastric cancer) | 5.0 | Elevated expression; correlates with metastasis |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; may reduce protein expression |
| c.287G>A (p.Arg96His) | Missense | <0.01% | Unknown significance; reported in ClinVar |
| c.502C>T (p.Arg168Trp) | Missense | <0.01% | Unknown significance; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the catalytic triad (e.g., His57, Asp102, Ser195) or cause premature truncation are predicted to impair protease activity and spermatogenesis.
Gain of Function (GOF)
Overexpression or activating mutations (e.g., in regulatory regions) may enhance oncogenic signaling in breast, colorectal, and gastric cancers.
Dominant Negative (DN)
No dominant-negative mutations have been reported for PRSS50.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase activity (GO:0004252) | • proteolysis (GO:0006508) |
| • spermatogenesis (GO:0007283) | • extracellular region (GO:0005576) |
| • membrane (GO:0016020) |
Pathways
• Proteolysis (serine protease cascade)
• Spermatogenesis (testis-specific expression)
Protein Summary
PRSS50 encodes a serine protease of the trypsin family, containing a conserved catalytic triad (His, Asp, Ser). The protein is synthesized as a zymogen and activated by proteolytic cleavage. It is predominantly expressed in testis, where it localizes to the acrosome and is essential for sperm maturation and fertilization. In cancer, PRSS50 is aberrantly expressed and may modulate cell adhesion, migration, and invasion through extracellular matrix degradation and signaling pathway activation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRSS50 Knockout HEK293 Cell Line | EDJ-KQ51238 | Human | 29122 | Details Get a Quote |
| PRSS50 Knockout HeLa Cell Line | EDJ-KQ56104 | Human | 29122 | Details Get a Quote |
| PRSS50 Knockout A-549 Cell Line | EDJ-KQ64590 | Human | 29122 | Details Get a Quote |
| PRSS50 Knockout HCT 116 Cell Line | EDJ-KQ73044 | Human | 29122 | Details Get a Quote |
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