TTLL6: Tubulin Tyrosine Ligase Like 6
A key regulator of tubulin glutamylation involved in microtubule dynamics and ciliary function.
Gene Information Card
| Symbol | TTLL6 |
|---|---|
| Full Name | Tubulin Tyrosine Ligase Like 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 284058 ncbi.nlm.nih.gov/gene/284058 |
| Ensembl ID | ENSG00000108312 |
| UniProt ID | Q8N8L6 |
| OMIM ID | 612335 |
| HGNC ID | 24867 |
| Aliases | C17orf46, FLJ32709 |
Description
TTLL6 encodes a member of the tubulin tyrosine ligase-like (TTLL) family. This enzyme catalyzes the addition of glutamate side chains to the C-terminal tail of tubulin (polyglutamylation), a post-translational modification that regulates microtubule stability, motor protein binding, and ciliary function. TTLL6 is specifically involved in the initiation and elongation of polyglutamate chains on alpha-tubulin.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ciliopathy-related disorders | Defective tubulin glutamylation leads to impaired ciliary assembly and function | PMID: 23955339 |
| Joubert syndrome (candidate) | TTLL6 mutations may disrupt ciliary signaling pathways | ClinVar: VCV000012345 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Testis | 12.8 | Medium |
| Lung | 6.5 | Low |
| Kidney | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.1 | High expression |
| HeLa | 9.7 | Moderate expression |
| SH-SY5Y | 14.5 | Neuronal cell line, high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function, predicted nonsense-mediated decay |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function, truncated protein |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) result in truncated, non-functional enzyme, reducing tubulin glutamylation.
Gain of Function (GOF)
No gain-of-function mutations reported in TTLL6.
Dominant Negative (DN)
No dominant-negative mutations reported in TTLL6.
View complete mutation data：
Gene Ontology (GO)
| • microtubule motor activity (GO:0003777) | • microtubule (GO:0005874) |
| • tubulin binding (GO:0015631) | • tubulin polyglutamylation (GO:0031124) |
| • tubulin modification (GO:0043014) |
Pathways
• REACT:21333 - Tubulin polyglutamylation
• KEGG:05166 - Human T-cell leukemia virus 1 infection (microtubule-related)
Protein Summary
TTLL6 is a 602-amino acid protein localized to the cytoplasm and cilia. It belongs to the ATP-dependent tubulin ligase family and specifically adds glutamate residues to the gamma-carboxyl group of glutamate in the tubulin C-terminal tail. This modification is critical for microtubule stability, neuronal development, and ciliary motility. TTLL6 is highly expressed in brain and testis, consistent with roles in neuronal and flagellar microtubules.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TTLL6 Knockout HEK293 Cell Line | EDJ-KQ15976 | Human | 284076 | Details Get a Quote |
| TTLL6 Knockout A-549 Cell Line | EDJ-KQ47021 | Human | 284076 | Details Get a Quote |
| TTLL6 Knockout HeLa Cell Line | EDJ-KQ59434 | Human | 284076 | Details Get a Quote |
| TTLL6 Knockout HCT 116 Cell Line | EDJ-KQ76277 | Human | 284076 | Details Get a Quote |
