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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PRSS55
serine protease 55
Chromosome 8 · 8p23.1
NCBI Gene: 203074Ensembl: ENSG00000184647.11HGNC: HGNC:30824UniProt: Q6UWB4
5PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membraneacrosomal vesicleserine-type peptidase activitybinding of sperm to zona pellucidahypertensionpolycythemiaessential hypertensionabscess
✦AI Summary

PRSS55 is a testis-specific serine protease essential for male fertility through multiple mechanisms. Primary function: PRSS55 localizes to sperm mitochondria and regulates branched-chain amino acid (BCAA) metabolism by interacting with BCKDK and BCKDHA, thereby controlling energy homeostasis and ATP production critical for sperm function 1. Mechanism: The protein stabilizes ADAM3, a membrane protein required for sperm migration through the uterotubal junction and zona pellucida binding 2. PRSS55 also activates type II muscle myosin, facilitating cytoskeleton organization and sperm structural differentiation 3. Disease relevance: Prss55 knockout mice exhibit severe astheno/teratozoospermia with morphological defects in sperm head, neck, midpiece, and tail, alongside impaired mitochondrial function and decreased electron transfer chain expression 3. Critically, a novel homozygous mutation (c.575C>T [p.A192V]) in PRSS55 causes human male infertility with similar morphological sperm defects 4. Clinical significance: The mutation reduces PRSS55 protein concentration and alters conformation 4. Human PRSS55 can functionally rescue mouse Prss55 knockout fertility when properly localized intracellularly, establishing a validated contraceptive research model 5. These findings position PRSS55 as a promising therapeutic target for genetic male infertility treatment 1.

Sources cited
1
PRSS55 localizes to mitochondria, regulates BCAA metabolism via BCKDK/BCKDHA interaction, and controls ATP production and sperm energy metabolism
PMID: 41444608
2
PRSS55 is required for male fertility by stabilizing ADAM3 protein for sperm-UTJ migration and sperm-ZP binding
PMID: 32301961
3
PRSS55 is essential for structural differentiation of sperm and mitochondrial function; knockout causes astheno/teratozoospermia with defective microtubules and cristae
PMID: 33417308
4
Novel homozygous PRSS55 mutation (p.A192V) causes human male infertility with teratozoospermia and altered PRSS55 protein conformation
PMID: 35821214
5
Human PRSS55 with intracellular C-terminal tagging functionally rescues mouse Prss55 knockout fertility, validating a contraceptive model
PMID: 40764777
Disease Associationsⓘ20
hypertensionOpen Targets
0.37Weak
polycythemiaOpen Targets
0.33Weak
essential hypertensionOpen Targets
0.33Weak
abscessOpen Targets
0.30Weak
cellulitisOpen Targets
0.29Weak
IrritabilityOpen Targets
0.20Weak
AnxietyOpen Targets
0.17Weak
autoimmune thyroid diseaseOpen Targets
0.17Weak
TinnitusOpen Targets
0.16Weak
schizophreniaOpen Targets
0.16Weak
smoking initiationOpen Targets
0.15Weak
major depressive disorderOpen Targets
0.15Weak
mathematical abilityOpen Targets
0.15Weak
functional lateralityOpen Targets
0.15Weak
systemic lupus erythematosusOpen Targets
0.14Weak
handednessOpen Targets
0.14Weak
Abruptio PlacentaeOpen Targets
0.14Weak
severe acute respiratory syndromeOpen Targets
0.13Weak
cardiovascular diseaseOpen Targets
0.13Weak
intelligenceOpen Targets
0.12Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TMPRSS11FShared pathway50%PRSS41Shared pathway50%PRSS51Shared pathway50%TMPRSS7Shared pathway50%TMPRSS11AShared pathway50%IMMP1LShared pathway50%
Tissue Expression6 tissues
Brain
100%
Liver
54%
Bone Marrow
15%
Lung
0%
Heart
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
PRSS55TMPRSS11FPRSS41PRSS51TMPRSS7TMPRSS11AIMMP1L
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6UWB4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.96LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.75 [1.34–1.96]
RankingsWhere PRSS55 stands among ~20K protein-coding genes
  • #18,475of 20,598
    Most Researched5
  • #17,756of 17,882
    Most Constrained (LOEUF)1.96
Genes detectedPRSS55
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PRSS55 is a novel potential causative gene for human male infertility.
PMID: 35821214
Reprod Biomed Online · 2022
1.00
2
Rescue of male infertility by human PRSS55 in transgenic mice establishes a contraceptive research model.
PMID: 40764777
Sci Rep · 2025
0.90
3
PRSS55 regulates BCAA metabolism and interacts with BCKDK and BCKDHA in mouse testes and sperm.
PMID: 41444608
Cell Biosci · 2025
0.80
4
PRSS55 plays an important role in the structural differentiation and energy metabolism of sperm and is required for male fertility in mice.
PMID: 33417308
J Cell Mol Med · 2021
0.70
5
Prss55 but not Prss51 is required for male fertility in mice†.
PMID: 32301961
Biol Reprod · 2020
0.60