TTBK1 (tau tubulin kinase 1)

2006-10-01  

Identity

HGNC
LOCATION
6p21.1
LOCUSID
ALIAS
BDTK
FUSION GENES

Other Information

Locus ID:

NCBI: 84630
HGNC: 19140
Ensembl: ENSG00000146216

Variants:

dbSNP: 84630
ClinVar: 84630
TCGA: ENSG00000146216
COSMIC: TTBK1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000146216ENST00000259750Q5TCY1
ENSG00000146216ENST00000304139X6R456

Expression (GTEx)

0
5
10
15
20
25
30
35

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
254738302014The tau tubulin kinases TTBK1/2 promote accumulation of pathological TDP-43.27
191181862008Spatial learning impairment, enhanced CDK5/p35 activity, and downregulation of NMDA receptor expression in transgenic mice expressing tau-tubulin kinase 1.24
230886432013Tau-tubulin kinase 1 expression, phosphorylation and co-localization with phospho-Ser422 tau in the Alzheimer's disease brain.19
212199682011Tau-tubulin kinase-1 gene variants are associated with Alzheimer's disease in Han Chinese.14
200964812011Genetic variations in tau-tubulin kinase-1 are linked to Alzheimer's disease in a Spanish case-control cohort.12
200964812011Genetic variations in tau-tubulin kinase-1 are linked to Alzheimer's disease in a Spanish case-control cohort.12
294095262018Pathological phosphorylation of tau and TDP-43 by TTBK1 and TTBK2 drives neurodegeneration.12
246377502014The structure of human tau-tubulin kinase 1 both in the apo form and in complex with an inhibitor.4

Citation

Dessen P

TTBK1 (tau tubulin kinase 1)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43547/ttbk1