HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SPESP1
sperm equatorial segment protein 1
Chromosome 15 · 15q23
NCBI Gene: 246777Ensembl: ENSG00000258484.5HGNC: HGNC:15570UniProt: Q6UW49
11PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
acrosomal vesicleacrosome reactionfusion of sperm to egg plasma membrane involved in single fertilizationfertilizationneurodegenerative diseasePeyronie diseaseplacental retentionazoospermia
✦AI Summary

SPESP1 (sperm equatorial segment protein 1) is a membrane fusion protein primarily involved in sperm-egg fertilization processes. The protein localizes to the sperm acrosomal region and plays a critical role in gamete membrane fusion during fertilization 1. SPESP1 expression is significantly reduced in spermatozoa from men experiencing total fertilization failure during IVF, suggesting its essential role in successful fertilization 1. The protein's expression decreases with advancing male age, contributing to age-related fertility decline 2. Beyond reproductive function, SPESP1 demonstrates broader biological significance in cellular processes. In dermal fibroblasts, SPESP1 prevents cellular senescence by directly binding methyl-binding proteins and promoting Decorin demethylation, thereby facilitating wound healing 3. The gene exhibits tissue-specific expression patterns, being normally expressed only in testis and placenta but epigenetically silenced in tumor cells 4. This silencing pattern classifies SPESP1 as a 'stealth antigen' - when re-expressed in tumors following demethylation treatment, it can serve as an immunogenic target for cancer immunotherapy 4. SPESP1 is also subject to hypermethylation in preeclamptic placentas, potentially contributing to pregnancy complications 5.

Sources cited
1
SPESP1 is a membrane fusion protein essential for sperm-egg fertilization, with reduced expression in total fertilization failure cases
PMID: 35727923
2
SPESP1 expression decreases with advancing male age, contributing to fertility decline
PMID: 40649876
3
SPESP1 prevents fibroblast senescence by binding methyl-binding proteins and promoting Decorin demethylation for wound healing
PMID: 38764260
4
SPESP1 is epigenetically silenced in tumors but can serve as an immunogenic target for cancer immunotherapy
PMID: 34009705
5
SPESP1 undergoes hypermethylation in preeclamptic placentas
PMID: 26968548
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.43Moderate
Peyronie diseaseOpen Targets
0.32Weak
placental retentionOpen Targets
0.31Weak
azoospermiaOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.08Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.07Suggestive
spermatogenic failure 19Open Targets
0.07Suggestive
spermatogenic failure 43Open Targets
0.07Suggestive
spermatogenic failure 45Open Targets
0.07Suggestive
spermatogenic failure 49Open Targets
0.07Suggestive
spermatogenic failure 82Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 7Open Targets
0.07Suggestive
spermatogenic failure 58Open Targets
0.07Suggestive
spermatogenic failure 83Open Targets
0.07Suggestive
spermatogenic failure 10Open Targets
0.07Suggestive
spermatogenic failure 11Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 8Open Targets
0.07Suggestive
spermatogenic failure 79Open Targets
0.07Suggestive
spermatogenic failure 91Open Targets
0.07Suggestive
spermatogenic failure 16Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DCST2Shared pathway50%SPACA6Shared pathway50%FREY1Shared pathway40%SPACA4Shared pathway40%SPATA46Shared pathway40%LYZL4Shared pathway40%
Tissue Expression6 tissues
Heart
100%
Ovary
62%
Brain
36%
Liver
24%
Lung
23%
Bone Marrow
19%
Gene Interaction Network
Click a node to explore
SPESP1DCST2SPACA6FREY1SPACA4SPATA46LYZL4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6UW49
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.91LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF1.32 [0.59–1.91]
RankingsWhere SPESP1 stands among ~20K protein-coding genes
  • #16,909of 20,598
    Most Researched11
  • #17,350of 17,882
    Most Constrained (LOEUF)1.91
Genes detectedSPESP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Downregulated SPESP1-driven fibroblast senescence decreases wound healing in aged mice.
PMID: 38764260
Clin Transl Med · 2024
1.00
2
Expression of membrane fusion proteins in spermatozoa and total fertilisation failure during in vitro fertilisation.
PMID: 35727923
Andrology · 2022
0.90
3
Age-Associated Proteomic Changes in Human Spermatozoa.
PMID: 40649876
Int J Mol Sci · 2025
0.80
4
DNA methylation profiles in preeclampsia and healthy control placentas.
PMID: 26968548
Am J Physiol Heart Circ Physiol · 2016
0.70
5
Acrosome markers of human sperm.
PMID: 26748928
Anat Sci Int · 2016
0.60