TTBK1 (tau tubulin kinase 1)

2006-10-01  

Identity

HGNC
TTBK1
LOCATION
6p21.1
LOCUSID
84630
ALIAS
BDTK
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
370598192023Modulation of tau tubulin kinases (TTBK1 and TTBK2) impacts ciliogenesis.4
370598192023Modulation of tau tubulin kinases (TTBK1 and TTBK2) impacts ciliogenesis.4
342974272021The structural, functional, and dynamic effect of Tau tubulin kinase1 upon a mutation: A neuro-degenerative hotspot.6
342974272021The structural, functional, and dynamic effect of Tau tubulin kinase1 upon a mutation: A neuro-degenerative hotspot.6
332288092020Adult onset pan-neuronal human tau tubulin kinase 1 expression causes severe cerebellar neurodegeneration in mice.4
332288092020Adult onset pan-neuronal human tau tubulin kinase 1 expression causes severe cerebellar neurodegeneration in mice.4
305561602019miR-219-5p inhibits tau phosphorylation by targeting TTBK1 and GSK-3β in Alzheimer's disease.19
305561602019miR-219-5p inhibits tau phosphorylation by targeting TTBK1 and GSK-3β in Alzheimer's disease.19
294095262018Pathological phosphorylation of tau and TDP-43 by TTBK1 and TTBK2 drives neurodegeneration.41
294095262018Pathological phosphorylation of tau and TDP-43 by TTBK1 and TTBK2 drives neurodegeneration.41
246377502014The structure of human tau-tubulin kinase 1 both in the apo form and in complex with an inhibitor.10
254738302014The tau tubulin kinases TTBK1/2 promote accumulation of pathological TDP-43.61
246377502014The structure of human tau-tubulin kinase 1 both in the apo form and in complex with an inhibitor.10
254738302014The tau tubulin kinases TTBK1/2 promote accumulation of pathological TDP-43.61
230886432013Tau-tubulin kinase 1 expression, phosphorylation and co-localization with phospho-Ser422 tau in the Alzheimer's disease brain.25

Citation

Dessen P

TTBK1 (tau tubulin kinase 1)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43547/gene-fusions-explorer/favicon/case-report-explorer/