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7 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CYLC1
cylicin 1
Chromosome X · Xq21.1
NCBI Gene: 1538Ensembl: ENSG00000183035.13HGNC: HGNC:2582UniProt: A0A087WXC8
16PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoskeletal calyxsperm glycocalyxprotein bindingacrosome assemblyspermatogenic failure, X-linked, 8insomniaadolescent idiopathic scoliosisazoospermia
✦AI Summary

CYLC1 encodes cylicin 1, a testis-specific, lysine-rich cytoskeletal protein that plays a critical role in male fertility by establishing normal sperm morphology during spermiogenesis 1. The primary function of CYLC1 is to anchor the acrosome to the nuclear envelope through formation of an 'inner acrosomal membrane-cylicins-nuclear envelope' sandwich structure, which requires interaction with other perinuclear theca proteins, the inner acrosomal membrane protein SPACA1, and the nuclear envelope protein FAM209 2. Loss of cylicin-1 in mice causes high incidence of malformed sperm heads with acrosome detachment from the nucleus, decreased epididymal sperm counts, impaired cytoplasm shedding, and reduced sperm motility 1. CYLC1 variants are significantly associated with male infertility due to sperm head deformity in humans. Whole exome sequencing identified multiple CYLC1 pathogenic variants in infertile men with sperm morphological abnormalities, including altered CYLC1 localization and acrosomal defects 32. Notably, patients carrying CYLC1 variants achieved successful pregnancies through intracytoplasmic sperm injection (ICSI), suggesting therapeutic options for affected individuals 3. CYLC1 is positioned as an important diagnostic marker in the male infertility proteome 4.

Sources cited
1
Cylicin-1 is vital for male fertility; forms IAM-cylicins-NE sandwich structure anchoring acrosome to nucleus; loss causes sperm head malformation and acrosome detachment; CYLC1 variants identified in infertile men
PMID: 38573307
2
Novel CYLC1 variants (p.K328E and p.K324M) cause sperm head deformity with altered CYLC1 localization; ICSI successfully achieved pregnancy in affected men
PMID: 41075067
3
Cylicins are major calyx components of perinuclear theca; CYLC1 deficiency causes male subfertility with impaired calyx assembly, decreased sperm counts, and structural malformations
PMID: 38013430
4
CYLC1 is identified as one of 18 sperm proteins with diagnostic potential for male infertility testing based on proteomic analysis
PMID: 36896575
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ21
spermatogenic failure, X-linked, 8Open Targets
0.20Weak
insomniaOpen Targets
0.20Weak
adolescent idiopathic scoliosisOpen Targets
0.14Weak
azoospermiaOpen Targets
0.10Weak
spermatogenic failure 72Open Targets
0.08Suggestive
spermatogenic failure 20Open Targets
0.08Suggestive
spermatogenic failure 18Open Targets
0.08Suggestive
spermatogenic failure 27Open Targets
0.08Suggestive
spermatogenic failure 46Open Targets
0.08Suggestive
spermatogenic failure 42Open Targets
0.08Suggestive
spermatogenic failure, X-linked, 3Open Targets
0.08Suggestive
spermatogenic failure 65Open Targets
0.08Suggestive
spermatogenic failure 51Open Targets
0.08Suggestive
spermatogenic failure 84Open Targets
0.08Suggestive
spermatogenic failure 93Open Targets
0.08Suggestive
spermatogenic failure 78Open Targets
0.08Suggestive
spermatogenic failure 19Open Targets
0.08Suggestive
spermatogenic failure 45Open Targets
0.08Suggestive
spermatogenic failure 49Open Targets
0.08Suggestive
spermatogenic failure 82Open Targets
0.08Suggestive
Spermatogenic failure, X-linked, 8UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CCINProtein interaction98%CYLC2Shared pathway67%ACTL9Shared pathway50%CCDC136Shared pathway50%ACTL7AShared pathway40%TMPRSS12Shared pathway40%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
0%
Ovary
0%
Brain
0%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
CYLC1CCINCYLC2ACTL9CCDC136ACTL7ATMPRSS12
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P35663
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.20Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.06 [0.03–0.20]
RankingsWhere CYLC1 stands among ~20K protein-coding genes
  • #15,241of 20,598
    Most Researched16
  • #447of 17,882
    Most Constrained (LOEUF)0.20 · top 5%
Genes detectedCYLC1
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Disruption in
PMID: 38573307
Elife · 2024
1.00
2
Novel CYLC1 variants are associated with male infertility due to sperm head deformity.
PMID: 41075067
J Assist Reprod Genet · 2025
0.86
3
The human sperm proteome-Toward a panel for male fertility testing.
PMID: 36896575
Andrology · 2023
0.71
4
Cylicins are a structural component of the sperm calyx being indispensable for male fertility in mice and human.
PMID: 38013430
Elife · 2023
0.57
5
Whole-exome sequencing of Indian prostate cancer reveals a novel therapeutic target: POLQ.
PMID: 35737091
J Cancer Res Clin Oncol · 2023
0.43