TTLL11: Tubulin Tyrosine Ligase Like 11
A gene encoding a tubulin polyglutamylase involved in cytoskeletal regulation and ciliary function.
Gene Information Card
| Symbol | TTLL11 |
|---|---|
| Full Name | Tubulin Tyrosine Ligase Like 11 |
| Gene Type | Protein-coding |
| Chromosomal Location | 9q34.13 |
| NCBI Gene ID | 158068 ncbi.nlm.nih.gov/gene/158068 |
| Ensembl ID | ENSG00000136869 |
| UniProt ID | Q8NHH1 |
| OMIM ID | 617652 |
| HGNC ID | 25863 |
| Aliases | C9orf26, FLJ32670, bA364O22.1 |
Description
TTLL11 encodes a member of the tubulin tyrosine ligase-like (TTLL) family. The protein functions as a tubulin polyglutamylase, catalyzing the addition of glutamate side chains to alpha- and beta-tubulin. This post-translational modification is critical for microtubule stability, ciliary motility, and neuronal function. TTLL11 is expressed in multiple tissues, with highest levels in testis and brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia (PCD) | Defective tubulin polyglutamylation impairs ciliary motility | ClinVar: pathogenic variants reported |
| Spermatogenic failure | Altered microtubule dynamics in sperm flagella | OMIM: 617652 association |
| Neurodevelopmental disorders | Disrupted microtubule function in neurons | ClinVar: variants of uncertain significance |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Brain | 15.2 | Medium |
| Lung | 8.7 | Low |
| Kidney | 6.3 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.4 | Moderate expression |
| HeLa | 9.8 | Low expression |
| SH-SY5Y | 18.1 | Neuronal cell line, higher expression |
| HepG2 | 3.5 | Low 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, truncation |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function, truncation |
| c.890A>G (p.Tyr297Cys) | Missense | 0.02% | Unknown effect, likely damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) lead to truncated protein and loss of polyglutamylase activity.
Gain of Function (GOF)
No gain-of-function mutations reported in TTLL11.
Dominant Negative (DN)
No dominant-negative mutations characterized.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type endopeptidase activity (GO:0004197) | • cytosol (GO:0005829) |
| • microtubule (GO:0005874) | • tubulin binding (GO:0015631) |
| • microtubule anchoring (GO:0034453) | • gamma-tubulin binding (GO:0043015) |
| • microtubule polymerization (GO:0046785) | • tubulin polyglutamylation (GO:0070537) |
Pathways
• Microtubule cytoskeleton organization (Reactome: R-HSA-190840)
• Post-translational modification of tubulin (Reactome: R-HSA-8955332)
• Cilium assembly (Reactome: R-HSA-5620920)
Protein Summary
TTLL11 is a 648-amino acid protein (UniProt Q8NHH1) belonging to the TTLL family. It localizes to the cytosol and microtubules, where it adds polyglutamate chains to tubulin. This modification regulates microtubule stability, motor protein binding, and ciliary function. The protein contains a conserved ATP-grasp domain essential for catalytic activity. Defects in TTLL11 are associated with ciliopathies and male infertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TTLL11 Knockout HEK293 Cell Line | EDJ-KQ15980 | Human | 158135 | Details Get a Quote |
| TTLL11 Knockout A-549 Cell Line | EDJ-KQ47025 | Human | 158135 | Details Get a Quote |
| TTLL11 Knockout HCT 116 Cell Line | EDJ-KQ47026 | Human | 158135 | Details Get a Quote |
| TTLL11 Knockout HeLa Cell Line | EDJ-KQ47027 | Human | 158135 | Details Get a Quote |
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