TTLL13: Tubulin Tyrosine Ligase Like 13
A member of the tubulin tyrosine ligase-like family involved in post-translational modification of tubulin.
Gene Information Card
| Symbol | TTLL13 |
|---|---|
| Full Name | Tubulin Tyrosine Ligase Like 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q26.3 |
| NCBI Gene ID | 221140 ncbi.nlm.nih.gov/gene/221140 |
| Ensembl ID | ENSG00000185973 |
| UniProt ID | Q6ZVT0 |
| OMIM ID | 617220 |
| HGNC ID | 25860 |
| Aliases | FLJ32670, MGC26733 |
Description
TTLL13 (Tubulin Tyrosine Ligase Like 13) is a protein-coding gene located on chromosome 15q26.3. It belongs to the tubulin tyrosine ligase-like (TTLL) family, which is involved in the post-translational modification of tubulin, specifically in the addition of glutamate side chains (polyglutamylation). The encoded protein may play a role in microtubule dynamics and cellular architecture.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No evidence from ClinVar, OMIM, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Brain | 2.1 | Not detected |
| Lung | 1.0 | Not detected |
| Liver | 0.8 | Not detected |
| Kidney | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.3 | Low expression |
| HeLa | 0.1 | Not detected |
| K562 | 0.0 | Not detected |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data:
Gene Ontology (GO)
| • microtubule motor activity (GO:0003777) | • microtubule (GO:0005874) |
| • tubulin binding (GO:0015631) | • tubulin polyglutamylation (GO:0043014) |
Pathways
• Microtubule-dependent transport
• Post-translational modification of tubulin
Protein Summary
The TTLL13 protein is a member of the tubulin tyrosine ligase-like family, which catalyzes the addition of glutamate residues to tubulin (polyglutamylation). This modification influences microtubule stability and function. The protein is predicted to be cytoplasmic and may interact with microtubules. Limited functional data are available.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TTLL13 Knockout HEK293 Cell Line | EDJ-KQ15981 | Human | 440307 | Details Get a Quote |
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