TTLL7: Tubulin Tyrosine Ligase Like 7
A key regulator of tubulin glutamylation in neurons and cilia
Gene Information Card
| Symbol | TTLL7 |
|---|---|
| Full Name | Tubulin Tyrosine Ligase Like 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p13.1 |
| NCBI Gene ID | 79739 ncbi.nlm.nih.gov/gene/79739 |
| Ensembl ID | ENSG00000117640 |
| UniProt ID | Q8NG57 |
| OMIM ID | 612000 |
| HGNC ID | 24866 |
| Aliases | TTLL7, C1orf41, FLJ10842 |
Description
TTLL7 encodes a member of the tubulin tyrosine ligase-like (TTLL) family that catalyzes the addition of glutamate side chains to tubulin (polyglutamylation). This post-translational modification is critical for microtubule stability, neuronal differentiation, and ciliary function. TTLL7 is predominantly expressed in brain and testis, and its dysregulation is linked to neurodegenerative disorders and ciliopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodegenerative disorders (e.g., Alzheimer's disease) | Altered tubulin glutamylation affects microtubule dynamics and axonal transport | PMID: 21947079 |
| Ciliopathies (e.g., primary ciliary dyskinesia) | Defective ciliary microtubule polyglutamylation impairs cilia motility | PMID: 29127259 |
| Cancer (e.g., glioblastoma) | TTLL7 overexpression promotes tumor cell migration via microtubule remodeling | COSMIC v99 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | High |
| Testis | 8.3 | Medium |
| Spinal cord | 7.1 | Medium |
| Heart | 2.0 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| HeLa (cervical carcinoma) | 3.8 | Low expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
| U87MG (glioblastoma) | 18.7 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124G>A (p.Gly42Arg) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.856C>T (p.Arg286Trp) | Missense | 0.005% (gnomAD) | Predicted damaging (SIFT) |
| c.1123_1125del (p.Lys375del) | In-frame deletion | <0.001% | Alters glutamylation activity |
Mutation functional classification
Loss of Function (LOF)
Missense variants in the catalytic domain (e.g., p.Gly42Arg) reduce polyglutamylation activity.
Gain of Function (GOF)
Overexpression in glioblastoma leads to increased tubulin glutamylation and enhanced cell migration.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT:21369 - Tubulin polyglutamylation
• KEGG: hsa04145 - Phagosome (microtubule-associated)
• Reactome: R-HSA-5620912 - Anchoring of the basal body to the plasma membrane
Protein Summary
TTLL7 is a 729-amino-acid protein (UniProt Q8NG57) that localizes to the cytoplasm and ciliary base. It contains a conserved TTLL domain responsible for ATP-dependent addition of glutamate residues to the C-terminal tails of alpha- and beta-tubulin. TTLL7 is essential for neuronal microtubule stability and ciliary motility. Its expression is enriched in brain and testis, and it is implicated in neurodegeneration and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TTLL7 Knockout HEK293 Cell Line | EDJ-KQ15977 | Human | 79739 | Details Get a Quote |
| TTLL7 Knockout A-549 Cell Line | EDJ-KQ47022 | Human | 79739 | Details Get a Quote |
| TTLL7 Knockout HCT 116 Cell Line | EDJ-KQ47023 | Human | 79739 | Details Get a Quote |
| TTLL7 Knockout HeLa Cell Line | EDJ-KQ47024 | Human | 79739 | Details Get a Quote |
