TEKT5: Tektin-5 – A Ciliary and Flagellar Structural Protein
Essential component of axonemal microtubules in sperm flagella and respiratory cilia
Gene Information Card
| Symbol | TEKT5 |
|---|---|
| Full Name | tektin 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.13 |
| NCBI Gene ID | 146279 ncbi.nlm.nih.gov/gene/146279 |
| Ensembl ID | ENSG00000161981 |
| UniProt ID | Q96M29 |
| OMIM ID | 612095 |
| HGNC ID | 28896 |
| Aliases | Tektin-5, Tektin5 |
Description
TEKT5 encodes tektin-5, a member of the tektin family of filament-forming proteins that associate with microtubules in ciliary and flagellar axonemes. Tektin-5 is essential for the structural integrity and motility of sperm flagella and respiratory cilia. It is highly expressed in testis and lung, and mutations in TEKT5 are associated with male infertility due to asthenozoospermia and may contribute to primary ciliary dyskinesia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (asthenozoospermia) | Loss of tektin-5 disrupts sperm flagellar microtubule stability, impairing motility. | PMID: 31006510 |
| Primary ciliary dyskinesia (PCD) | Defective ciliary axoneme assembly leads to impaired mucociliary clearance. | PMID: 31589614 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 68.5 | High |
| Lung | 12.3 | Medium |
| Fallopian tube | 8.1 | Medium |
| Brain | 2.4 | Low |
| Heart | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Sperm cells | High | Flagellar expression confirmed by immunofluorescence |
| Respiratory epithelial cells | Medium | Ciliary localization |
| HeLa | 0.5 | Negligible 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 tektin-5 function |
| c.625G>A (p.Gly209Ser) | Missense | 0.01% | Reduced protein stability; impaired flagellar assembly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent tektin-5 protein, causing flagellar/ciliary defects.
Gain of Function (GOF)
No gain-of-function mutations reported for TEKT5.
Dominant Negative (DN)
No dominant-negative mutations reported; TEKT5 is thought to act in a recessive manner.
View complete mutation data:
Gene Ontology (GO)
| • microtubule (GO:0005874) | • cytoskeleton (GO:0005856) |
| • cilium (GO:0005929) | • axoneme (GO:0035082) |
| • cilium movement (GO:0003341) | • spermatid development (GO:0007286) |
Pathways
• Cilium assembly (Reactome: R-HSA-5617833)
• Flagellated sperm motility (KEGG: hsa04912)
Protein Summary
Tektin-5 is a 55 kDa protein that forms coiled-coil filaments along the axonemal microtubules of cilia and flagella. It interacts with other tektins and microtubule-associated proteins to stabilize the doublet microtubules. In sperm, tektin-5 is critical for flagellar waveform and progressive motility. In respiratory cilia, it contributes to mucociliary clearance. Loss of tektin-5 leads to disorganized axonemes and impaired motility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TEKT5 Knockout HEK293 Cell Line | EDJ-KQ10470 | Human | 146279 | Details Get a Quote |
| TEKT5 Knockout HeLa Cell Line | EDJ-KQ58540 | Human | 146279 | Details Get a Quote |
| TEKT5 Knockout A-549 Cell Line | EDJ-KQ67030 | Human | 146279 | Details Get a Quote |
| TEKT5 Knockout HCT 116 Cell Line | EDJ-KQ75431 | Human | 146279 | Details Get a Quote |
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