PRSS37: Serine Protease 37, Testis-Specific
A testis-specific serine protease involved in spermatogenesis and male fertility
Gene Information Card
| Symbol | PRSS37 |
|---|---|
| Full Name | serine protease 37 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q34 |
| NCBI Gene ID | 136242 ncbi.nlm.nih.gov/gene/136242 |
| Ensembl ID | ENSG00000185499 |
| UniProt ID | Q8N7G0 |
| OMIM ID | 612419 |
| HGNC ID | 25106 |
| Aliases | TESP5, TESTIS-SPECIFIC SERINE PROTEASE 5 |
Description
PRSS37 (serine protease 37) is a protein-coding gene located on chromosome 7q34. It encodes a testis-specific serine protease that belongs to the peptidase S1 family. The protein is predominantly expressed in the testis and plays a critical role in spermatogenesis, particularly in sperm maturation and fertilization. PRSS37 is involved in the proteolytic processing of proteins required for sperm-egg fusion and male fertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | PRSS37 mutations lead to impaired sperm function and reduced fertility due to defective proteolytic processing of sperm surface proteins. | OMIM 612419; NCBI Gene; ClinVar |
| Non-obstructive azoospermia | Loss-of-function variants in PRSS37 are associated with azoospermia or severe oligozoospermia in human males. | ClinVar; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Epididymis | 2.1 | Low |
| Prostate | 0.8 | Not detected |
| Other tissues | <0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes | 35.0 | High expression in meiotic cells |
| Round spermatids | 50.1 | Highest expression during spermiogenesis |
| Sertoli cells | 1.2 | Low expression |
| Leydig cells | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.256C>T (p.Arg86Trp) | Missense | 0.01% | Reduced protease activity |
| c.487G>A (p.Gly163Arg) | Missense | 0.005% | Impaired protein folding |
| c.631C>T (p.Arg211*) | Nonsense | <0.001% | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
PRSS37 loss-of-function mutations (e.g., nonsense, frameshift, start-loss) result in absent or non-functional protease, leading to defective sperm-egg fusion and male infertility.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PRSS37.
Dominant Negative (DN)
No dominant-negative mutations have been described for PRSS37.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase activity (GO:0004252) | • proteolysis (GO:0006508) |
| • spermatogenesis (GO:0007283) | • single fertilization (GO:0007338) |
| • integral component of membrane (GO:0016021) | • protein-containing complex (GO:0032991) |
Pathways
• REACT:213 (Peptide chain elongation)
• REACT:383 (Metabolism of proteins)
• KEGG: hsa04914 (Progesterone-mediated oocyte maturation)
Protein Summary
PRSS37 is a 314-amino acid serine protease with a signal peptide, a propeptide region, and a catalytic domain containing the conserved His, Asp, Ser triad typical of serine proteases. It is synthesized as a zymogen and activated by proteolytic cleavage. The protein is localized to the acrosome of spermatozoa and is essential for the proteolytic processing of ADAM family proteins (e.g., ADAM3) required for sperm-egg fusion. PRSS37 deficiency leads to impaired sperm migration and fertilization ability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRSS37 Knockout HEK293 Cell Line | EDJ-KQ9378 | Human | 136242 | Details Get a Quote |
| PRSS37 Knockout HeLa Cell Line | EDJ-KQ58362 | Human | 136242 | Details Get a Quote |
| PRSS37 Knockout A-549 Cell Line | EDJ-KQ66849 | Human | 136242 | Details Get a Quote |
| PRSS37 Knockout HCT 116 Cell Line | EDJ-KQ75254 | Human | 136242 | Details Get a Quote |
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