TTBK1

Protein-coding gene in the species Homo sapiens
TTBK1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

4BTJ, 4BTK, 4BTM, 4NFM, 4NFN

Identifiers
AliasesTTBK1, BDTK, tau tubulin kinase 1
External IDsMGI: 2147036; HomoloGene: 50342; GeneCards: TTBK1; OMA:TTBK1 - orthologs
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for TTBK1
Genomic location for TTBK1
Band6p21.1Start43,243,481 bp[1]
End43,288,258 bp[1]
Gene location (Mouse)
Chromosome 17 (mouse)
Chr.Chromosome 17 (mouse)[2]
Chromosome 17 (mouse)
Genomic location for TTBK1
Genomic location for TTBK1
Band17|17 CStart46,753,374 bp[2]
End46,798,601 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • lateral nuclear group of thalamus

  • prefrontal cortex

  • postcentral gyrus

  • right frontal lobe

  • right hemisphere of cerebellum

  • superior frontal gyrus

  • anterior cingulate cortex

  • entorhinal cortex

  • Brodmann area 9

  • amygdala
Top expressed in
  • superior frontal gyrus

  • primary visual cortex

  • seminiferous tubule

  • dentate gyrus of hippocampal formation granule cell

  • cerebellar cortex

  • Rostral migratory stream

  • primary motor cortex

  • cingulate gyrus

  • spermatid

  • subiculum
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • transferase activity
  • nucleotide binding
  • protein kinase activity
  • protein serine/threonine kinase activity
  • ATP binding
  • kinase activity
  • tau protein binding
  • tau-protein kinase activity
Cellular component
  • cytoplasm
  • nucleus
  • nucleoplasm
  • cytosol
  • microtubule associated complex
  • neuronal cell body
  • perinuclear region of cytoplasm
Biological process
  • protein phosphorylation
  • peptidyl-serine phosphorylation
  • substantia nigra development
  • phosphorylation
  • regulation of cell shape
  • learning or memory
  • positive regulation of gene expression
  • negative regulation of gene expression
  • peptidyl-threonine phosphorylation
  • peptidyl-tyrosine phosphorylation
  • negative regulation of protein binding
  • positive regulation of protein polymerization
  • positive regulation of astrocyte activation
  • positive regulation of microglial cell activation
  • positive regulation of cyclin-dependent protein kinase activity
  • positive regulation of cysteine-type endopeptidase activity
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

84630

106763

Ensembl

ENSG00000146216

ENSMUSG00000015599

UniProt

Q5TCY1

Q6PCN3

RefSeq (mRNA)

NM_032538

NM_001162864
NM_175351

RefSeq (protein)

NP_115927

NP_001156336

Location (UCSC)Chr 6: 43.24 – 43.29 MbChr 17: 46.75 – 46.8 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Tau tubulin kinase 1 is a protein that in humans is encoded by the TTBK1 gene.[5]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000146216 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000015599 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Tau tubulin kinase 1". Retrieved 2017-03-23.

Further reading

  • Sato S, Xu J, Okuyama S, Martinez LB, Walsh SM, Jacobsen MT, Swan RJ, Schlautman JD, Ciborowski P, Ikezu T (2008). "Spatial learning impairment, enhanced CDK5/p35 activity, and downregulation of NMDA receptor expression in transgenic mice expressing tau-tubulin kinase 1". J. Neurosci. 28 (53): 14511–21. doi:10.1523/JNEUROSCI.3417-08.2008. PMC 6671237. PMID 19118186.
  • Vázquez-Higuera JL, Martínez-García A, Sánchez-Juan P, Rodríguez-Rodríguez E, Mateo I, Pozueta A, Frank A, Valdivieso F, Berciano J, Bullido MJ, Combarros O (2011). "Genetic variations in tau-tubulin kinase-1 are linked to Alzheimer's disease in a Spanish case-control cohort". Neurobiol. Aging. 32 (3): 550.e5–9. doi:10.1016/j.neurobiolaging.2009.12.021. PMID 20096481. S2CID 5587797.
  • Vázquez-Higuera JL, Martínez-García A, Sánchez-Juan P, Rodríguez-Rodríguez E, Mateo I, Pozueta A, Frank A, Valdivieso F, Berciano J, Bullido MJ, Combarros O (2011). "Genetic variations in tau-tubulin kinase-1 are linked to Alzheimer's disease in a Spanish case-control cohort". Neurobiol. Aging. 32 (3): 550.e5–9. doi:10.1016/j.neurobiolaging.2009.12.021. PMID 20096481. S2CID 5587797.
  • Yu NN, Yu JT, Xiao JT, Zhang HW, Lu RC, Jiang H, Xing ZH, Tan L (2011). "Tau-tubulin kinase-1 gene variants are associated with Alzheimer's disease in Han Chinese". Neurosci. Lett. 491 (1): 83–6. doi:10.1016/j.neulet.2011.01.011. PMID 21219968. S2CID 6421145.
  • Lund H, Cowburn RF, Gustafsson E, Strömberg K, Svensson A, Dahllund L, Malinowsky D, Sunnemark D (2013). "Tau-tubulin kinase 1 expression, phosphorylation and co-localization with phospho-Ser422 tau in the Alzheimer's disease brain". Brain Pathol. 23 (4): 378–89. doi:10.1111/bpa.12001. PMC 8029021. PMID 23088643. S2CID 30089308.
  • Kiefer SE, Chang CJ, Kimura SR, Gao M, Xie D, Zhang Y, Zhang G, Gill MB, Mastalerz H, Thompson LA, Cacace AM, Sheriff S (2014). "The structure of human tau-tubulin kinase 1 both in the apo form and in complex with an inhibitor". Acta Crystallogr F. 70 (Pt 2): 173–81. doi:10.1107/S2053230X14000144. PMC 3936456. PMID 24637750.


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