TTLL9: Tubulin Tyrosine Ligase Like 9
A member of the tubulin tyrosine ligase-like family involved in microtubule modification
Gene Information Card
| Symbol | TTLL9 |
|---|---|
| Full Name | Tubulin Tyrosine Ligase Like 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 164229 ncbi.nlm.nih.gov/gene/164229 |
| Ensembl ID | ENSG00000100804 |
| UniProt ID | Q3SXM5 |
| OMIM ID | 617420 |
| HGNC ID | 25826 |
| Aliases | C14orf32, FLJ32670 |
Description
TTLL9 (Tubulin Tyrosine Ligase Like 9) is a protein-coding gene belonging to the tubulin tyrosine ligase-like (TTLL) family. Members of this family catalyze the post-translational addition of glutamate side chains to tubulin, a process known as polyglutamylation, which regulates microtubule stability and function. TTLL9 is specifically involved in the modification of microtubules in ciliated cells and is essential for normal ciliary motility and axonemal organization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia | Defects in TTLL9 impair microtubule polyglutamylation in cilia, leading to abnormal ciliary beat frequency and mucociliary clearance | ClinVar, OMIM |
| Asthenozoospermia | Loss of TTLL9 function in sperm flagella causes reduced motility due to defective axonemal microtubule modification | NCBI Gene, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.3 | Low |
| Brain | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.2 | Low expression |
| HeLa | 3.8 | Low expression |
| A549 | 6.7 | Moderate expression |
| HepG2 | 2.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | <0.01% | Premature stop, loss of function |
| c.782G>A (p.Arg261His) | Missense | <0.01% | Reduced enzymatic activity |
| c.1234_1235del (p.Lys412Glufs*3) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein lacking catalytic domain, resulting in loss of tubulin polyglutamylation activity.
Gain of Function (GOF)
No gain-of-function mutations reported for TTLL9.
Dominant Negative (DN)
No dominant-negative mutations reported for TTLL9.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Microtubule polyglutamylation (Reactome: R-HSA-8854518)
• Cilium assembly (Reactome: R-HSA-5620920)
Protein Summary
TTLL9 encodes a 672-amino acid protein that localizes to the cytoplasm and ciliary axoneme. It functions as a tubulin polyglutamylase, adding glutamate side chains to the C-terminal tails of alpha- and beta-tubulin. This modification is critical for microtubule stability, ciliary motility, and sperm flagella function. TTLL9 is highly expressed in testis and lung, consistent with its role in ciliated tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TTLL9 Knockout HEK293 Cell Line | EDJ-KQ15979 | Human | 164395 | Details Get a Quote |
| TTLL9 Knockout HeLa Cell Line | EDJ-KQ58875 | Human | 164395 | Details Get a Quote |
| TTLL9 Knockout A-549 Cell Line | EDJ-KQ67366 | Human | 164395 | Details Get a Quote |
| TTLL9 Knockout HCT 116 Cell Line | EDJ-KQ75759 | Human | 164395 | Details Get a Quote |
