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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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DLEC1
DLEC1 cilia and flagella associated protein
Chromosome 3 · 3p22.2
NCBI Gene: 9940Ensembl: ENSG00000008226.21HGNC: HGNC:2899UniProt: B1B5Y4
35PubMed Papers
22Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Tumor Suppressor
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytosolcytoplasmalpha-tubulin bindingbeta-tubulin bindingatrial fibrillationsebaceous gland diseaseEpidermal Inclusion Cystcardiac arrhythmia
✦AI Summary

DLEC1 (Deleted in Lung and Esophageal Cancer 1) functions as a tumor suppressor gene and plays essential roles in both spermatogenesis and cancer biology. In reproductive biology, DLEC1 is required for male fertility, being significantly expressed in testes and germ cells 1. The protein is essential for proper sperm head and tail formation, with knockout mice showing impaired spermatogenesis, head deformation, shortened tails, and abnormal manchette organization 1. Mechanistically, DLEC1 interacts with tubulin, TRiC complex, and Bardet-Biedl Syndrome protein complex subunits, suggesting involvement in intraflagellar transport and ciliogenesis 1. In cancer, DLEC1 acts as a tumor suppressor by inhibiting cell proliferation and inducing G1 cell cycle arrest 2. The gene is frequently silenced through promoter hypermethylation in multiple cancer types including ovarian 3, hepatocellular 2, colorectal 4, lung 5, and nasopharyngeal carcinomas 6. DLEC1 methylation serves as a diagnostic biomarker with high sensitivity (0.90) and specificity (0.60) for lung cancer 5. Therapeutic agents like curcumin can restore DLEC1 expression through epigenetic demethylation, contributing to their anti-cancer effects 4.

Sources cited
1
DLEC1 is required for spermatogenesis and male fertility, expressed in testes and germ cells, and interacts with tubulin and ciliogenesis-related protein complexes
PMID: 33144677
2
DLEC1 acts as tumor suppressor by inhibiting cell proliferation and inducing G1 arrest, silenced by hypermethylation in hepatocellular carcinoma
PMID: 18191269
3
DLEC1 is downregulated by promoter hypermethylation in ovarian cancer and inhibits colony formation
PMID: 16756719
4
DLEC1 is silenced by methylation in colorectal cancer and can be restored by curcumin treatment
PMID: 25640947
5
DLEC1 methylation serves as diagnostic biomarker for lung cancer with sensitivity of 0.90 and specificity of 0.60
PMID: 31130567
6
DLEC1 promoter is aberrantly methylated in nasopharyngeal carcinoma
PMID: 18751390
Disease Associationsⓘ22
atrial fibrillationOpen Targets
0.50Moderate
sebaceous gland diseaseOpen Targets
0.37Weak
Epidermal Inclusion CystOpen Targets
0.36Weak
cardiac arrhythmiaOpen Targets
0.33Weak
placenta praeviaOpen Targets
0.32Weak
Abruptio PlacentaeOpen Targets
0.26Weak
alcohol drinkingOpen Targets
0.23Weak
neurodegenerative diseaseOpen Targets
0.22Weak
esophageal cancerOpen Targets
0.21Weak
atherosclerosisOpen Targets
0.21Weak
lung cancerOpen Targets
0.19Weak
azoospermiaOpen Targets
0.11Weak
neoplasmOpen Targets
0.10Suggestive
spermatogenic failure 65Open Targets
0.08Suggestive
spermatogenic failure 84Open Targets
0.08Suggestive
spermatogenic failure 93Open Targets
0.08Suggestive
spermatogenic failure 56Open Targets
0.08Suggestive
spermatogenic failure 92Open Targets
0.08Suggestive
spermatogenic failure 94Open Targets
0.08Suggestive
spermatogenic failure, X-linked, 3Open Targets
0.08Suggestive
Esophageal cancerUniProt
Lung cancerUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PLCD1Protein interaction77%RNF6Protein interaction76%LZTS1Protein interaction73%SLC52A3Protein interaction72%SPMIP7Shared pathway33%CBY3Shared pathway33%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
25%
Ovary
23%
Liver
14%
Brain
3%
Heart
3%
Gene Interaction Network
Click a node to explore
DLEC1PLCD1RNF6LZTS1SLC52A3SPMIP7CBY3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9Y238
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.81LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.71 [0.62–0.81]
RankingsWhere DLEC1 stands among ~20K protein-coding genes
  • #10,954of 20,598
    Most Researched35
  • #6,852of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedDLEC1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Candidate tumor-suppressor gene DLEC1 is frequently downregulated by promoter hypermethylation and histone hypoacetylation in human epithelial ovarian cancer.
PMID: 16756719
Neoplasia · 2006
1.00
2
The tumor suppressor gene DLEC1 is frequently silenced by DNA methylation in hepatocellular carcinoma and induces G1 arrest in cell cycle.
PMID: 18191269
J Hepatol · 2008
0.90
3
Curcumin inhibits anchorage-independent growth of HT29 human colon cancer cells by targeting epigenetic restoration of the tumor suppressor gene DLEC1.
PMID: 25640947
Biochem Pharmacol · 2015
0.80
4
Dlec1 is required for spermatogenesis and male fertility in mice.
PMID: 33144677
Sci Rep · 2020
0.70
5
Clinicopathological Significance and Diagnostic Value of DLEC1 Hypermethylation in Lung Cancer: A Meta-analysis.
PMID: 31130567
J Nippon Med Sch · 2019
0.60