TEKTL1
Tektin-like 1
Gene Information Card
| Symbol | TEKTL1 |
|---|---|
| Full Name | tektin-like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 100506334 ncbi.nlm.nih.gov/gene/100506334 |
| Ensembl ID | ENSG00000204176 |
| UniProt ID | A6NKD9 |
| OMIM ID | - |
| HGNC ID | HGNC:37287 |
| Aliases | FLJ46365, MGC16384 |
Description
TEKTL1 (tektin-like 1) is a protein-coding gene located on chromosome 1q32.1. The encoded protein shares sequence similarity with tektins, which are components of ciliary and flagellar microtubules. TEKTL1 is expressed in various tissues and may play a role in ciliary function or spermatogenesis, though its precise biological function remains under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | - | - |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Medium |
| Brain | 1.8 | Low |
| Lung | 0.9 | Low |
| Liver | 0.3 | Not detected |
| Kidney | 0.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 2.1 | Low expression |
| HeLa | 1.5 | Low expression |
| K562 | 0.4 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Cys) | missense | <0.01% | Unknown |
| c.456G>A (p.Val152Ile) | missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding (GO:0008017) | • ciliary basal body (GO:0036064) |
Pathways
• Cilium assembly
Protein Summary
TEKTL1 encodes a 348-amino acid protein with a tektin-like domain. It is predicted to localize to ciliary structures and may contribute to microtubule stability. Expression is highest in testis, suggesting a potential role in sperm flagella formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TEKTL1 Knockout HEK293 Cell Line | EDJ-KQ8915 | Human | 126402 | Details Get a Quote |
| TEKTL1 Knockout HeLa Cell Line | EDJ-KQ58176 | Human | 126402 | Details Get a Quote |
| TEKTL1 Knockout A-549 Cell Line | EDJ-KQ66665 | Human | 126402 | Details Get a Quote |
| TEKTL1 Knockout HCT 116 Cell Line | EDJ-KQ75083 | Human | 126402 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
