PRSS37
protein-codingserine protease 37, the group of Serine proteases
Gene summary
Predicted to enable serine-type endopeptidase activity. Involved in positive regulation of acrosome reaction and regulation of protein processing. Located in acrosomal vesicle. [provided by Alliance of Genome Resources, Jul 2025]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~5.2 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to PRSS37 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001008270.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 27 | 1 | 28 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 27 | 1 | 0 | 28 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001008271.2 | 5 | MANE Select | |
| Ensembl | ENSP00000297767.3 | 5 | MANE Select | |
| RefSeq | NP_001165422.1 | 5 | Standard | |
| RefSeq | NP_001357332.1 | 5 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- proteolysis
- binding of sperm to zona pellucida
- cell migration
- protein maturation
- regulation of protein processing
Molecular Function
- serine-type endopeptidase activity
Cellular Component
- acrosomal vesicle
- extracellular region
- nucleus
- secretory granule
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000350549
- Coding exons
- 5
- Length
- 5202
- Individuals with no LoFs
- 125556
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 192
- Defined
- 125748
- p
- 0.000764
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.343 | 124 | 135 | 0.917 | 0.00000740 | 1545 |
| Missense (PolyPhen) | 36 | 50.258 | 0.7163 | 610 | ||
| Synonymous | -0.146 | 52 | 50.7 | 1.03 | 0.00000293 | 442 |
| Loss of Function | 0.752 | 10 | 12.9 | 0.774 | 8.79e-7 | 125 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.000062 | 0.000062 | rare |
| Latino/Admixed American | 0.00093 | 0.00090 | rare |
| Ashkenazi Jewish | 0.010 | 0.0099 | notable |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0.00019 | 0.00018 | rare |
| European (Non-Finnish) | 0.00037 | 0.00037 | rare |
| South Asian | 0.00036 | 0.00036 | rare |
| Other | 0.00066 | 0.00065 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Plays a role in male fertility (By similarity). May have a role in sperm migration or binding to zona-intact eggs (By similarity). Involved in the activation of the proacrosin/acrosin system (PubMed:27649891). {ECO:0000250|UniProtKB:Q9DAA4, ECO:0000269|PubMed:27649891}.;
Intolerance Scores
- LoFtool
- 0.427
- RVIS EVS
- 0.68
- RVIS percentile EVS
- 85.04
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.114
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |