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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TEKT1
tektin 1
Chromosome 17 · 17p13.1
NCBI Gene: 83659Ensembl: ENSG00000167858.13HGNC: HGNC:15534UniProt: Q969V4
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnucleusaxonemal microtubulecilium movement involved in cell motilitycholelithiasishypopituitarismHypercholesterolemiafamilial glucocorticoid deficiency
✦AI Summary

TEKT1 encodes tektin-1, a microtubule-stabilizing protein that is a critical structural component of the axoneme in cilia and flagella 1. Tektin-1 localizes to centrosomes, basal bodies of primary and motile cilia, and the axonemal inner sheath, where it forms filamentous polymers that stabilize doublet microtubules and maintain ciliary motility 2. Loss of TEKT1 function causes microtubule instability and impaired ciliary motility 1. Clinically, TEKT1 mutations are associated with primary ciliary dyskinesia and motile ciliopathies, including Mainzer-Saldino syndrome 21. A zebrafish knockdown model confirmed TEKT1's role in ciliary motility, and genetic interactions between TEKT1 and WDR19 likely contribute to compound disease phenotypes 2. Beyond cilia biology, TEKT1 serves as a marker for germ cell differentiation and is expressed during spermatogenesis and embryonic stem cell differentiation into germ cells 34. Recent evidence suggests TEKT1 may have an oncogenic role in endometrial cancer through interactions with fatty acid metabolism pathways, promoting cell proliferation and migration 5.

Sources cited
1
TEKT1 mutations cause motile ciliary dyskinesia; tektin-1 localizes to centrosomes, basal bodies, and axonemes; genetic interactions with WDR19; evidence for TEKT1 as candidate gene for primary ciliary dyskinesia
PMID: 29121203
2
Tektins are microtubule-stabilizing proteins critical for cilia and flagella assembly; loss of Tekt1 causes microtubule instability, impaired motility, and diseases including Mainzer-Saldino syndrome
PMID: 39949046
3
TEKT1 is a post-meiotic germ cell marker whose expression increases during human embryonic stem cell differentiation
PMID: 24639715
4
TEKT1 is expressed as a mature germ cell marker during spontaneous differentiation of human embryonic stem cells into embryoid bodies
PMID: 14962983
5
TEKT1 is identified as hub gene in fatty acid metabolism signature; promotes endometrial cancer cell proliferation, migration, and invasion through AMPK-γ binding
PMID: 39794059
Disease Associationsⓘ20
cholelithiasisOpen Targets
0.11Weak
hypopituitarismOpen Targets
0.07Suggestive
familial glucocorticoid deficiencyOpen Targets
0.06Suggestive
HypercholesterolemiaOpen Targets
0.06Suggestive
immune system diseaseOpen Targets
0.05Suggestive
Hepatic veno-occlusive disease - immunodeficiencyOpen Targets
0.04Suggestive
hepatic veno-occlusive disease-immunodeficiency syndromeOpen Targets
0.04Suggestive
immunodeficiency 75Open Targets
0.04Suggestive
autoinflammation with episodic fever and lymphadenopathyOpen Targets
0.03Suggestive
Kimura diseaseOpen Targets
0.03Suggestive
Mast Cell SarcomaOpen Targets
0.03Suggestive
esophageal squamous cell carcinomaOpen Targets
0.03Suggestive
immunodeficiency 118Open Targets
0.03Suggestive
central nervous system cancerOpen Targets
0.03Suggestive
ependymomaOpen Targets
0.02Suggestive
ciliopathyOpen Targets
0.02Suggestive
endometrial cancerOpen Targets
0.02Suggestive
papillary thyroid carcinomaOpen Targets
0.01Suggestive
systemic lupus erythematosusOpen Targets
0.01Suggestive
nasopharyngeal neoplasmOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TEKT5Shared pathway100%TEKT2Protein interaction95%TEKT3Protein interaction95%TEKT4Protein interaction94%TUBB4BProtein interaction91%SPACA9Protein interaction91%
Tissue Expression6 tissues
Lung
100%
Brain
63%
Liver
48%
Ovary
20%
Bone Marrow
9%
Heart
2%
Gene Interaction Network
Click a node to explore
TEKT1TEKT5TEKT2TEKT3TEKT4TUBB4BSPACA9
PROTEIN STRUCTURE
Preparing viewer…
PDB7UNG · 3.60 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.18LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.90 [0.69–1.18]
RankingsWhere TEKT1 stands among ~20K protein-coding genes
  • #14,569of 20,598
    Most Researched19
  • #12,418of 17,882
    Most Constrained (LOEUF)1.18
Genes detectedTEKT1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.
PMID: 29121203
Hum Mol Genet · 2018
1.00
2
Fatty acid metabolism-related signature suggests an oncogenic role of TEKT1 in endometrial cancer.
PMID: 39794059
Taiwan J Obstet Gynecol · 2025
0.90
3
Identification of TEKTIN1-expressing multiciliated cells during spontaneous differentiation of non-human primate embryonic stem cells.
PMID: 37186436
Genes Cells · 2023
0.80
4
Brief biology and pathophysiology of Tekt bundles.
PMID: 39949046
Cell Adh Migr · 2025
0.70
5
The detection and analysis of differential regulatory communities in lung cancer.
PMID: 32045668
Genomics · 2020
0.60