TTLL8: Tubulin Tyrosine Ligase Like 8
A member of the tubulin tyrosine ligase-like family involved in post-translational modification of tubulin
Gene Information Card
| Symbol | TTLL8 |
|---|---|
| Full Name | Tubulin Tyrosine Ligase Like 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.31 |
| NCBI Gene ID | 164714 ncbi.nlm.nih.gov/gene/164714 |
| Ensembl ID | ENSG00000100376 |
| UniProt ID | Q8NG68 |
| OMIM ID | 617219 |
| HGNC ID | 25864 |
| Aliases | TTLL8A, C22orf34, bA397G5.3 |
Description
TTLL8 encodes a member of the tubulin tyrosine ligase-like (TTLL) family. This protein is involved in the post-translational glutamylation of tubulin, a modification that regulates microtubule stability and function. TTLL8 specifically adds glutamate side chains to alpha-tubulin, contributing to the diversity of microtubule functions in cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia | Impaired ciliary motility due to defective tubulin glutamylation | ClinVar; PMID: 28973684 |
| Spermatogenic failure | Abnormal sperm flagella structure and motility | OMIM; PMID: 31006510 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 3.2 | Low |
| Lung | 1.8 | Low |
| Kidney | 1.5 | Low |
| Liver | 0.6 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 2.1 | Low expression |
| HeLa | 1.4 | Low expression |
| K562 | 0.8 | Not detected |
| SH-SY5Y | 3.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | Rare | Loss of function |
| c.1582G>A (p.Gly528Arg) | Missense | Rare | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutation p.Arg349* leads to premature termination and likely loss of enzymatic activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Post-translational modification of tubulin (R-HSA-8955332)
• Microtubule dynamics (R-HSA-190236)
Protein Summary
TTLL8 is a 658-amino acid protein belonging to the tubulin tyrosine ligase-like family. It catalyzes the addition of glutamate side chains to alpha-tubulin, a process known as polyglutamylation. This modification is critical for microtubule stability, ciliary function, and flagellar motility. The protein is predominantly expressed in testis and brain, with lower levels in other tissues. Mutations in TTLL8 are associated with primary ciliary dyskinesia and spermatogenic failure.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TTLL8 Knockout HEK293 Cell Line | EDJ-KQ15190 | Human | 164714 | Details Get a Quote |
