PRSS55
Serine Protease 55, Testis-Specific
Gene Information Card
| Symbol | PRSS55 |
|---|---|
| Full Name | Serine Protease 55 |
| Gene Type | Protein-coding |
| Chromosomal Location | 8p23.1 |
| NCBI Gene ID | 203074 ncbi.nlm.nih.gov/gene/203074 |
| Ensembl ID | ENSG00000164733 |
| UniProt ID | Q6UWY2 |
| OMIM ID | 610949 |
| HGNC ID | 16156 |
| Aliases | TESP5, SP001, CT83 |
Description
PRSS55 (Serine Protease 55) is a testis-specific gene encoding a serine protease involved in spermatogenesis and the acrosome reaction. It is essential for male fertility, as mutations impair sperm-egg fusion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (non-obstructive azoospermia) | Loss-of-function mutations in PRSS55 disrupt acrosome reaction and sperm-egg fusion | ClinVar, OMIM |
| Spermatogenic failure | PRSS55 deficiency leads to impaired sperm motility and morphology | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Fallopian tube | 0.2 | Not detected |
| Prostate | 0.1 | Not detected |
| Ovary | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatozoa | N/A | Testis-specific expression; not detected in somatic cell lines |
| HEK293 | 0.0 | No endogenous expression |
| HeLa | 0.0 | No endogenous expression |
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, no protein produced |
| c.226C>T (p.Arg76*) | Nonsense | Rare | Premature stop, truncated protein |
| c.487G>A (p.Gly163Arg) | Missense | Rare | Impaired catalytic activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations (e.g., p.Arg76*, p.Gly163Arg) cause loss of protease activity, leading to male infertility.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase activity | • proteolysis |
| • spermatogenesis | • acrosome reaction |
| • extracellular space |
Pathways
• Spermatogenesis
• Fertilization
Protein Summary
PRSS55 is a 314-amino acid serine protease expressed exclusively in testis, localized to the acrosome of spermatozoa. It is involved in proteolytic processing required for sperm-egg fusion. The protein contains a signal peptide and a trypsin-like serine protease domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRSS55 Knockout HEK293 Cell Line | EDJ-KQ5412 | Human | 203074 | Details Get a Quote |
| PRSS55 Knockout HeLa Cell Line | EDJ-KQ59038 | Human | 203074 | Details Get a Quote |
| PRSS55 Knockout A-549 Cell Line | EDJ-KQ67517 | Human | 203074 | Details Get a Quote |
| PRSS55 Knockout HCT 116 Cell Line | EDJ-KQ75915 | Human | 203074 | Details Get a Quote |
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