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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CATSPER1
cation channel sperm associated 1
Chromosome 11 · 11q13.1
NCBI Gene: 117144Ensembl: ENSG00000175294.6HGNC: HGNC:17116UniProt: Q8NEC5
49PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
voltage-gated calcium channel activitycalcium ion transportsperm flagellumsperm principal piecespermatogenic failure 7non-syndromic male infertility due to sperm motility disordermale infertilityazoospermia
✦AI Summary

CATSPER1 (cation channel sperm associated 1) encodes a pore-forming subunit of the CatSper complex, a sperm-specific voltage-gated calcium channel essential for male fertility 1. The protein is primarily localized to the principal piece of the sperm flagellum and functions in calcium-dependent physiological responses required for successful fertilization, including sperm hyperactivation, capacitation, and motility 21. CATSPER1 expression is positively correlated with progressive motility, hyperactivated motility, and calcium responsiveness to progesterone, with reduced expression observed in asthenozoospermic men compared to normozoospermic controls 13. The gene is transcriptionally regulated by CREB1 and CREMτ transcription factors, with Sox5 and Sox9 also contributing to its regulation during spermatogenesis 45. CATSPER1 transcript levels in ejaculated spermatozoa correlate with sperm quality parameters, fertilization rates, and embryo development in ICSI procedures 36. Genetic polymorphisms in CATSPER1 have been associated with idiopathic azoospermia and oligospermia risk, highlighting its clinical relevance in male infertility 7. The channel's critical role in sperm function makes it a potential target for both infertility diagnosis and contraceptive development.

Sources cited
1
CATSPER1 expression correlates with sperm motility and is reduced in asthenozoospermic men
PMID: 25983333
2
CATSPER1 protein localizes to sperm principal piece and is essential for sperm motility
PMID: 16625279
3
CATSPER1 mRNA expression correlates with fertilization rates and embryo quality in ICSI
PMID: 37957468
4
CATSPER1 promoter is regulated by CREB1 and CREMτ transcription factors
PMID: 30017233
5
Sox5 and Sox9 transcription factors regulate Catsper1 gene expression
PMID: 25101494
6
CATSPER1 transcript levels differ between high-quality and low-quality sperm fractions
PMID: 34440724
7
CATSPER1 genetic polymorphisms are associated with male infertility risk
PMID: 35248021
Disease Associationsⓘ21
spermatogenic failure 7Open Targets
0.58Moderate
non-syndromic male infertility due to sperm motility disorderOpen Targets
0.37Weak
male infertilityOpen Targets
0.17Weak
azoospermiaOpen Targets
0.10Suggestive
spermatogenic failure 3Open Targets
0.08Suggestive
spermatogenic failure 55Open Targets
0.08Suggestive
spermatogenic failure 83Open Targets
0.08Suggestive
spermatogenic failure 16Open Targets
0.07Suggestive
spermatogenic failure 21Open Targets
0.07Suggestive
spermatogenic failure 29Open Targets
0.07Suggestive
spermatogenic failure 58Open Targets
0.07Suggestive
spermatogenic failure 79Open Targets
0.07Suggestive
spermatogenic failure 10Open Targets
0.07Suggestive
spermatogenic failure 11Open Targets
0.07Suggestive
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 7UniProt
Pathogenic Variants3
NM_053054.4(CATSPER1):c.889C>T (p.Arg297Ter)Likely pathogenic
Spermatogenic failure 7
☆☆☆☆2023→ Residue 297
NM_053054.4(CATSPER1):c.539dup (p.His182fs)Pathogenic
Spermatogenic failure 7
☆☆☆☆2009→ Residue 182
NM_053054.4(CATSPER1):c.944_948dup (p.Asp317fs)Pathogenic
Spermatogenic failure 7
☆☆☆☆2009→ Residue 317
View on ClinVar ↗
Related Genes
HSPA2Protein interaction100%CACNA1DProtein interaction96%CACNG8Protein interaction91%CACNA1CProtein interaction91%CACNG2Protein interaction76%CATSPER2Protein interaction75%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
50%
Heart
14%
Brain
11%
Liver
4%
Ovary
3%
Gene Interaction Network
Click a node to explore
CATSPER1HSPA2CACNA1DCACNG8CACNA1CCACNG2CATSPER2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8NEC5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.91LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.72 [0.58–0.91]
RankingsWhere CATSPER1 stands among ~20K protein-coding genes
  • #8,923of 20,598
    Most Researched49
  • #4,064of 5,498
    Most Pathogenic Variants3
  • #8,244of 17,882
    Most Constrained (LOEUF)0.91
Genes detectedCATSPER1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Human CATSPER1 Promoter Is Regulated by CREB1 and CREMτ Transcriptional Factors In Vitro.
PMID: 30017233
Arch Med Res · 2018
1.00
2
Quantification of CatSper1 expression in human spermatozoa and relation to functional parameters.
PMID: 25983333
Hum Reprod · 2015
0.90
3
PMID: 34440724
Cells · 2021
0.80
4
The expression and significance of CATSPER1 in human testis and ejaculated spermatozoa.
PMID: 16625279
Asian J Androl · 2006
0.70
5
The transcription factors Sox5 and Sox9 regulate Catsper1 gene expression.
PMID: 25101494
FEBS Lett · 2014
0.60