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7 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PRSS50
serine protease 50
Chromosome 3 · 3p21.31
NCBI Gene: 29122Ensembl: ENSG00000283706.2HGNC: HGNC:17910UniProt: A0A140VJY3
32PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmthreonine-type endopeptidase activityproteolysisendoplasmic reticulumagingAbnormality of the skeletal systemneoplasmazoospermia
✦AI Summary

PRSS50 (serine protease 50) is a threonine endopeptidase primarily involved in proteolysis and protein processing, localized to the cytoplasm and endoplasmic reticulum 1. In the testis, PRSS50 is the predominant PRSS family member expressed during human spermatogenesis, with tightly regulated expression through bivalent chr3 modifications 2. Functionally, PRSS50 plays a critical role in meiotic progression and male fertility by negatively regulating the MKP3/ERK signaling pathway; PRSS50 deletion in mice impairs DNA synthesis, causes abnormal spermatid nuclear compression, reduces sex hormone levels, and increases spermatogenic cell apoptosis through dysregulated ERK1/2 phosphorylation 1. Beyond reproductive function, PRSS50 shows disease relevance in metabolic and neurological conditions. Epigenome-wide studies identified hypomethylation of PRSS50 in type 2 diabetes mellitus patients, suggesting potential involvement in glucose homeostasis 3. PRSS50 methylation changes were detected in smoking-exposed brain regions, implicating it in nicotine-related neuroadaptation 4, and in retinal tissues of age-related macular degeneration patients 5. Predicted gene expression of PRSS50 in the atrial appendage interacted with amyloid deposition on episodic memory in Alzheimer's disease cohorts 6. These findings suggest PRSS50 functions in tissue-specific proteolytic processes with broader implications for reproductive, metabolic, and neurodegenerative disease pathophysiology.

Sources cited
1
PRSS50 regulates meiotic progression and male fertility through MKP3/ERK signaling pathway inhibition; PRSS50 knockout causes impaired DNA synthesis, abnormal spermatid compression, and increased spermatogenic cell apoptosis
PMID: 39147718
2
PRSS50 is the predominant PRSS gene expressed in human testis spermatogenesis with bivalent chromatin regulation
PMID: 41700412
3
PRSS50 shows hypomethylation in type 2 diabetes mellitus patients, identified through epigenome-wide association study
PMID: 38137029
4
PRSS50 methylation changes detected in multiple brain regions associated with smoking exposure
PMID: 35455681
5
PRSS50 promoter region shows consistent DNA methylation changes in retina and blood of age-related macular degeneration patients
PMID: 26067391
6
Predicted PRSS50 gene expression in atrial appendage interacts with amyloid deposition on episodic memory performance in Alzheimer's disease
PMID: 27743375
Disease Associationsⓘ20
agingOpen Targets
0.29Weak
Abnormality of the skeletal systemOpen Targets
0.13Weak
neoplasmOpen Targets
0.11Weak
azoospermiaOpen Targets
0.10Weak
Abnormality of the gastrointestinal tractOpen Targets
0.10Suggestive
colorectal carcinomaOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.09Suggestive
colitisOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
spermatogenic failure 72Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.07Suggestive
spermatogenic failure 18Open Targets
0.07Suggestive
spermatogenic failure 27Open Targets
0.07Suggestive
spermatogenic failure 46Open Targets
0.07Suggestive
spermatogenic failure 65Open Targets
0.07Suggestive
spermatogenic failure 43Open Targets
0.07Suggestive
spermatogenic failure 45Open Targets
0.07Suggestive
spermatogenic failure 82Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TMPRSS11FShared pathway100%PRSS41Shared pathway100%PRSS51Shared pathway100%TMPRSS7Shared pathway100%TMPRSS11AShared pathway100%IMMP1LShared pathway100%
Tissue Expression4 tissues
Liver
0%
Ovary
0%
Bone Marrow
0%
Lung
0%
Gene Interaction Network
Click a node to explore
PRSS50TMPRSS11FPRSS41PRSS51TMPRSS7TMPRSS11AIMMP1L
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9UI38
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.01LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.71 [0.51–1.01]
RankingsWhere PRSS50 stands among ~20K protein-coding genes
  • #11,588of 20,598
    Most Researched32
  • #9,777of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedPRSS50
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
PRSS50-mediated inhibition of MKP3/ERK signaling is crucial for meiotic progression and sperm quality.
PMID: 39147718
Zool Res · 2024
1.00
2
Epigenetic Profiling of Type 2 Diabetes Mellitus: An Epigenome-Wide Association Study of DNA Methylation in the Korean Genome and Epidemiology Study.
PMID: 38137029
Genes (Basel) · 2023
0.86
3
Epigenetic Signatures of Smoking in Five Brain Regions.
PMID: 35455681
J Pers Med · 2022
0.71
4
Genetic resilience to amyloid related cognitive decline.
PMID: 27743375
Brain Imaging Behav · 2017
0.57
5
Differential DNA methylation identified in the blood and retina of AMD patients.
PMID: 26067391
Epigenetics · 2015
0.43