TEKT1 Gene: Tektin-1
A key component of ciliary and flagellar microtubules, implicated in primary ciliary dyskinesia and spermatogenesis defects.
Gene Information Card
| Symbol | TEKT1 |
|---|---|
| Full Name | tektin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.2 |
| NCBI Gene ID | 83659 ncbi.nlm.nih.gov/gene/83659 |
| Ensembl ID | ENSG00000167858 |
| UniProt ID | Q969V4 |
| OMIM ID | 609001 |
| HGNC ID | 15515 |
| Aliases | TEKT1, tektin-1, Tektin1 |
Description
TEKT1 encodes tektin-1, a member of the tektin family of filament-forming proteins that co-assemble with microtubules in ciliary and flagellar axonemes. Tektins are essential for the structural integrity and stability of microtubule doublets, and TEKT1 is specifically involved in sperm flagellar motility and respiratory ciliary function. Mutations in TEKT1 are associated with primary ciliary dyskinesia (PCD) and male infertility due to impaired axonemal structure.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia (PCD) | Loss-of-function mutations in TEKT1 disrupt axonemal microtubule stability, impairing ciliary motility and mucociliary clearance. | ClinVar, OMIM |
| Male infertility (spermatogenic failure) | TEKT1 deficiency leads to defective sperm flagellar assembly and motility, causing asthenozoospermia. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Trachea | 12.8 | Medium |
| Lung | 8.5 | Medium |
| Fallopian tube | 6.3 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 22.1 | Retinal pigment epithelial cells, ciliated |
| BEAS-2B | 15.4 | Bronchial epithelial cells, ciliated |
| HeLa | 0.8 | Non-ciliated, low expression |
| HEK293 | 0.5 | Non-ciliated, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.442C>T (p.Arg148*) | Nonsense | Rare | Loss of function, premature truncation |
| c.556G>A (p.Gly186Arg) | Missense | Rare | Likely damaging, disrupts microtubule binding |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function, no protein translation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent tektin-1, causing ciliary/flagellar defects.
Gain of Function (GOF)
No gain-of-function mutations reported for TEKT1.
Dominant Negative (DN)
No dominant-negative mutations reported; TEKT1 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • microtubule (GO:0005874) | • cytoskeleton (GO:0005856) |
| • cilium (GO:0005929) | • axoneme assembly (GO:0035082) |
| • cilium movement (GO:0003341) | • spermatid development (GO:0007286) |
Pathways
• Cilium assembly (Reactome: R-HSA-5617833)
• Axoneme formation (Reactome: R-HSA-5620920)
Protein Summary
Tektin-1 is a 48 kDa protein that forms filaments along the microtubule wall of ciliary and flagellar axonemes. It contains a conserved tektin domain and interacts with other tektins and microtubule-associated proteins to stabilize the axonemal doublet microtubules. In humans, TEKT1 is highly expressed in testis and respiratory epithelia, consistent with its role in sperm motility and mucociliary clearance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TEKT1 Knockout HEK293 Cell Line | EDJ-KQ9880 | Human | 83659 | Details Get a Quote |
| TEKT1 Knockout HeLa Cell Line | EDJ-KQ57462 | Human | 83659 | Details Get a Quote |
| TEKT1 Knockout A-549 Cell Line | EDJ-KQ65966 | Human | 83659 | Details Get a Quote |
| TEKT1 Knockout HCT 116 Cell Line | EDJ-KQ74388 | Human | 83659 | Details Get a Quote |
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