TTLL10: Tubulin Tyrosine Ligase Like 10
A gene encoding a tubulin polyglutamylase involved in microtubule modification and potential roles in cancer and neurological disorders.
Gene Information Card
| Symbol | TTLL10 |
|---|---|
| Full Name | Tubulin Tyrosine Ligase Like 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 254173 ncbi.nlm.nih.gov/gene/254173 |
| Ensembl ID | ENSG00000162521 |
| UniProt ID | Q6ZVT0 |
| OMIM ID | 617219 |
| HGNC ID | 25863 |
| Aliases | C1orf48, FLJ10858, TTL10 |
Description
TTLL10 encodes a member of the tubulin tyrosine ligase-like (TTLL) family. This protein functions as a tubulin polyglutamylase, catalyzing the addition of glutamate side chains to tubulin, a post-translational modification that regulates microtubule stability and function. TTLL10 is expressed in various tissues and is implicated in ciliary function, neuronal development, and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered TTLL10 expression may affect microtubule dynamics, influencing cell proliferation and migration. | COSMIC database reports somatic mutations in multiple cancer types. |
| Primary ciliary dyskinesia (potential) | Defective tubulin polyglutamylation can impair ciliary motility. | Inferred from functional homology; direct evidence limited. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 3.1 | Low |
| Kidney | 2.5 | Low |
| Liver | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 4.8 | Cervical cancer cell line |
| A549 | 3.2 | Lung cancer cell line |
| HEK293 | 2.1 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown functional impact |
| c.205G>A (p.Gly69Ser) | Missense | <0.01% | Reported in COSMIC; potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the catalytic domain may reduce polyglutamylase activity.
Gain of Function (GOF)
Not documented.
Dominant Negative (DN)
Not documented.
View complete mutation data：
Gene Ontology (GO)
| • microtubule motor activity (GO:0003777) | • microtubule (GO:0005874) |
| • isomerase activity (GO:0016853) | • gamma-tubulin binding (GO:0043015) |
| • microtubule polymerization (GO:0046785) |
Pathways
• Microtubule cytoskeleton regulation
• Tubulin post-translational modification
Protein Summary
The TTLL10 protein (UniProt Q6ZVT0) is a 442-amino acid enzyme localized to the cytoplasm and cilia. It contains a conserved TTL domain responsible for polyglutamylation of alpha- and beta-tubulin. This modification is critical for microtubule stability, ciliary function, and cell division. Dysregulation is linked to cancer and ciliopathies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TTLL10 Knockout HEK293 Cell Line | EDJ-KQ11757 | Human | 254173 | Details Get a Quote |
| TTLL10 Knockout HeLa Cell Line | EDJ-KQ59250 | Human | 254173 | Details Get a Quote |
| TTLL10 Knockout A-549 Cell Line | EDJ-KQ67719 | Human | 254173 | Details Get a Quote |
| TTLL10 Knockout HCT 116 Cell Line | EDJ-KQ76101 | Human | 254173 | Details Get a Quote |
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