HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TTBK1
tau tubulin kinase 1
Chromosome 6 Β· 6p21.1
NCBI Gene: 84630Ensembl: ENSG00000146216.14HGNC: HGNC:19140UniProt: Q5TCY1
37PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Kinase
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
learning or memorypositive regulation of astrocyte activationpositive regulation of gene expressionnegative regulation of gene expressionRare pervasive developmental disorderneurodegenerative diseaseAnxietyautism
✦AI Summary

TTBK1 (tau tubulin kinase 1) is a neuron-specific serine/threonine kinase that belongs to the casein kinase superfamily and functions as a critical regulator of tau pathology 1. TTBK1 directly phosphorylates tau protein at multiple residues, particularly at Ser422, and also activates cycline-dependent kinase 5, thereby promoting tau aggregation and accumulation 1. Additionally, TTBK1 phosphorylates TDP-43, linking it to both tau and TDP-43-related proteinopathies 2. Mechanistically, TTBK1 drives neurodegeneration through tau hyperphosphorylation and by mediating pro-inflammatory M1-skewed microglial activation and axonal degeneration 1. TTBK1 protein expression is significantly elevated in Alzheimer's disease brains, and genetic variations in the TTBK1 gene are associated with late-onset Alzheimer's disease in multiple populations 1. TTBK1 transgenic mice crossed with tau mutants demonstrate progressive tau accumulation, neuroinflammation, and neurodegeneration 1. Clinical relevance extends to frontotemporal lobar degeneration, where elevated TTBK1/2 expression is observed in cortical and hippocampal neurons of FTLD patients 2. In vivo antisense oligonucleotide-based TTBK1 inhibition significantly reduces phosphorylated tau epitopes in PS19 tauopathy mice, supporting TTBK1 as a promising therapeutic target for neurodegenerative diseases 3.

Sources cited
1
TTBK1 is a CNS-specific kinase that phosphorylates tau at Ser422, promotes tau aggregation, activates CDK5, and is elevated in AD brains with genetic associations to late-onset AD
PMID: 24808823
2
TTBK1 phosphorylates both tau and TDP-43 and is elevated in FTLD patient neurons; co-expression with tau or TDP-43 causes synergistic neurodegeneration
PMID: 29409526
3
ASO-based TTBK1 targeting reduces phosphorylated tau epitopes (pT231, pT181, pS396, pS422) in PS19 tauopathy mice hippocampus
PMID: 37853497
4
TTBK1 overexpression mediates pro-inflammatory M1 microglial activation and axonal degeneration in tau transgenic mice
PMID: 24808823
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
Rare pervasive developmental disorderOpen Targets
0.27Weak
neurodegenerative diseaseOpen Targets
0.15Weak
AnxietyOpen Targets
0.12Weak
autismOpen Targets
0.12Weak
Autistic behaviorOpen Targets
0.12Weak
Delayed speech and language developmentOpen Targets
0.12Weak
Joint hypermobilityOpen Targets
0.12Weak
Mild global developmental delayOpen Targets
0.12Weak
essential tremorOpen Targets
0.10Weak
Pick diseaseOpen Targets
0.09Suggestive
Alzheimer diseaseOpen Targets
0.08Suggestive
extrapyramidal and movement diseaseOpen Targets
0.07Suggestive
intelligenceOpen Targets
0.07Suggestive
Young adult-onset ParkinsonismOpen Targets
0.05Suggestive
neuroferritinopathyOpen Targets
0.05Suggestive
amyotrophic lateral sclerosisOpen Targets
0.05Suggestive
Adult-onset dystonia-parkinsonismOpen Targets
0.05Suggestive
Rapid-onset dystonia-parkinsonismOpen Targets
0.05Suggestive
Basal ganglia calcificationOpen Targets
0.04Suggestive
bilateral striopallidodentate calcinosisOpen Targets
0.04Suggestive
Pathogenic Variants2
NM_032538.3(TTBK1):c.1899del (p.Thr634fs)Likely pathogenic
See cases
β˜…β˜†β˜†β˜†2025β†’ Residue 634
NM_032538.3(TTBK1):c.773G>A (p.Arg258Gln)Likely pathogenic
Childhood-onset schizophrenia
β˜…β˜†β˜†β˜†2014β†’ Residue 258
View on ClinVar β†—
Related Genes
TTBK2Co-mentioned in literature50%PLAG1Shared pathway29%ZNF148Shared pathway29%MYCNShared pathway25%NTSShared pathway25%RBMS3Shared pathway25%
Tissue Expression6 tissues
Brain
100%
Liver
21%
Heart
2%
Bone Marrow
0%
Lung
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
TTBK1TTBK2PLAG1ZNF148MYCNNTSRBMS3
PROTEIN STRUCTURE
Preparing viewer…
PDB4NFN Β· 1.42 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.49Moderately Constrained
pLIβ“˜
0.97Intolerant
Observed/Expected LoF0.37 [0.28–0.49]
RankingsWhere TTBK1 stands among ~20K protein-coding genes
  • #10,719of 20,598
    Most Researched37
  • #4,481of 5,498
    Most Pathogenic Variants2
  • #2,910of 17,882
    Most Constrained (LOEUF)0.49 Β· top quartile
Genes detectedTTBK1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Tau-tubulin kinase.
PMID: 24808823
Front Mol Neurosci Β· 2014
1.00
2
Molecular mechanisms and consequences of TDP-43 phosphorylation in neurodegeneration.
PMID: 40340943
Mol Neurodegener Β· 2025
0.90
3
Human TTBK1, TTBK2 and MARK1 kinase toxicity in
PMID: 28711868
Biol Open Β· 2017
0.80
4
Pathological phosphorylation of tau and TDP-43 by TTBK1 and TTBK2 drives neurodegeneration.
PMID: 29409526
Mol Neurodegener Β· 2018
0.70
5
Tau tubulin kinases in proteinopathy.
PMID: 31034749
FEBS J Β· 2019
0.60