TEKT3: Tektin-3, a Key Component of Ciliary and Flagellar Microtubules
Essential for sperm motility and respiratory ciliary function; implicated in primary ciliary dyskinesia and male infertility.
Gene Information Card
| Symbol | TEKT3 |
|---|---|
| Full Name | tektin 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p12 |
| NCBI Gene ID | 64518 ncbi.nlm.nih.gov/gene/64518 |
| Ensembl ID | ENSG00000108848 |
| UniProt ID | Q9BXF9 |
| OMIM ID | 612095 |
| HGNC ID | 15419 |
| Aliases | Tektin-3, Tektin3, FLJ20184 |
Description
TEKT3 (tektin 3) is a protein-coding gene that encodes tektin-3, a member of the tektin family of filament-forming proteins. Tektins are structural components of ciliary and flagellar microtubules, essential for axonemal stability and motility. TEKT3 is highly expressed in tissues with motile cilia, including the respiratory tract and male reproductive system. Mutations in TEKT3 are associated with primary ciliary dyskinesia (PCD) and male infertility due to impaired sperm motility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia (PCD) | Loss-of-function mutations in TEKT3 disrupt axonemal microtubule structure, impairing ciliary motility. | ClinVar, OMIM |
| Male Infertility (asthenozoospermia) | TEKT3 deficiency leads to defective sperm flagella and reduced motility. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Lung | 12.8 | Medium |
| Trachea | 15.1 | Medium |
| Fallopian Tube | 8.3 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 18.5 | Retinal pigment epithelial cells; ciliated |
| BEAS-2B | 22.3 | Bronchial epithelial cells; motile cilia |
| HeLa | 0.8 | 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 | Premature stop; loss of function |
| c.832G>A (p.Gly278Arg) | Missense | Unknown | Likely damaging; structural disruption |
| c.1054delC (p.Leu352Trpfs*13) | Frameshift | Rare | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg148*, p.Leu352Trpfs*13) cause loss of tektin-3 function, leading to ciliary dysmotility.
Gain of Function (GOF)
No gain-of-function mutations reported for TEKT3.
Dominant Negative (DN)
No dominant-negative mutations reported; TEKT3 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • microtubule (GO:0005874) | • axonemal dynein complex (GO:0005858) |
| • cilium (GO:0005929) | • axoneme (GO:0035082) |
| • spermatid development (GO:0007286) | • cilium-dependent cell motility (GO:0060285) |
Pathways
• Cilium Assembly (Reactome: R-HSA-5617833)
• Axoneme formation (GO:0035082)
Protein Summary
Tektin-3 is a 55 kDa protein that forms filaments along the axonemal microtubules of cilia and flagella. It interacts with other tektins and microtubule-associated proteins to stabilize the doublet microtubules and facilitate dynein-driven motility. In humans, TEKT3 is critical for sperm flagellar movement and mucociliary clearance in the respiratory tract.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TEKT3 Knockout HEK293 Cell Line | EDJ-KQ15677 | Human | 64518 | Details Get a Quote |
| TEKT3 Knockout HeLa Cell Line | EDJ-KQ57062 | Human | 64518 | Details Get a Quote |
| TEKT3 Knockout A-549 Cell Line | EDJ-KQ65574 | Human | 64518 | Details Get a Quote |
| TEKT3 Knockout HCT 116 Cell Line | EDJ-KQ74004 | Human | 64518 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
