TTBK1: Tau Tubulin Kinase 1
A brain-enriched kinase implicated in tauopathies and neurodegenerative disorders
Gene Information Card
| Symbol | TTBK1 |
|---|---|
| Full Name | Tau Tubulin Kinase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 84630 ncbi.nlm.nih.gov/gene/84630 |
| Ensembl ID | ENSG00000112742 |
| UniProt ID | Q5TCY1 |
| OMIM ID | 611895 |
| HGNC ID | 29141 |
| Aliases | BDTK, KIAA1855, TTBK |
Description
TTBK1 (Tau Tubulin Kinase 1) encodes a serine/threonine kinase that phosphorylates tau protein and tubulin. It is predominantly expressed in the brain, particularly in neurons, and is involved in microtubule dynamics and tau pathology. TTBK1 has been linked to Alzheimer disease and other tauopathies through its role in hyperphosphorylation of tau.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer disease | TTBK1 phosphorylates tau at sites associated with neurofibrillary tangles; overexpression leads to tau hyperphosphorylation | PMID: 17050692; ClinVar |
| Progressive supranuclear palsy | TTBK1 variants may contribute to tau aggregation in PSP | PMID: 22190403 |
| Corticobasal degeneration | Similar tau phosphorylation mechanism as in PSP | PMID: 22190403 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Cerebral cortex | 14.2 | High |
| Hippocampus | 13.8 | High |
| Cerebellum | 8.1 | Medium |
| Testis | 2.3 | Low |
| Other tissues | <1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.0 | High expression; used in tau phosphorylation studies |
| HEK293 | 0.5 | Low endogenous expression |
| U-87 MG (glioblastoma) | 3.2 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1046C>T (p.Thr349Met) | Missense | <0.01% (gnomAD) | Unknown; rare variant in population databases |
| c.1679G>A (p.Arg560His) | Missense | <0.01% (gnomAD) | Unknown; rare variant |
| c.2113G>A (p.Val705Met) | Missense | <0.01% (gnomAD) | Unknown; rare variant |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in TTBK1.
Gain of Function (GOF)
Overexpression or hyperactive variants may increase tau phosphorylation, but no specific gain-of-function mutations validated.
Dominant Negative (DN)
Not described for TTBK1.
View complete mutation data：
Gene Ontology (GO)
| • protein serine/threonine kinase activity | • ATP binding |
| • tau protein binding | • microtubule binding |
| • protein phosphorylation | • neuron projection development |
Pathways
• Tau pathway in Alzheimer disease
• Microtubule cytoskeleton regulation
Protein Summary
TTBK1 is a 1321-amino acid serine/threonine kinase with an N-terminal kinase domain and a long C-terminal tail. It phosphorylates tau at multiple sites (e.g., Ser262, Ser356) and tubulin, modulating microtubule stability. TTBK1 is predominantly neuronal and its dysregulation contributes to tau pathology in neurodegenerative diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TTBK1 Knockout HEK293 Cell Line | EDJ-KQ10137 | Human | 84630 | Details Get a Quote |
| TTBK1 Knockout HeLa Cell Line | EDJ-KQ57623 | Human | 84630 | Details Get a Quote |
| TTBK1 Knockout A-549 Cell Line | EDJ-KQ66121 | Human | 84630 | Details Get a Quote |
| TTBK1 Knockout HCT 116 Cell Line | EDJ-KQ74546 | Human | 84630 | Details Get a Quote |
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