Property Summary

NCBI Gene PubMed Count 18
PubMed Score 11.38
PubTator Score 11.26

Knowledge Summary

Patent (2,177)

TINX Plot

  Disease Sources (3)

Disease Target Count
Schizophrenia, Childhood 16
Disease Target Count P-value
ovarian cancer 8492 2.95676410435624E-10
posterior fossa group B ependymoma 1530 1.79412077885639E-5
group 3 medulloblastoma 2254 2.77174386589253E-4
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0

Expression

  Differential Expression (3)

Disease log2 FC p
group 3 medulloblastoma -2.300 0.000
posterior fossa group B ependymoma -1.400 0.000
ovarian cancer 1.300 0.000

Synonym

Accession Q5TCY1 A2A2U5 Q2L6C6 Q6ZNH0 Q8N444 Q96JH2
Symbols BDTK

Gene

PDB

4BTJ   4BTK   4BTM   4NFM   4NFN  

  Ortholog (7)

Species Source
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG
Pig OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Anole lizard OMA Inparanoid

  TechDev Info (1)

Jing-Ruey Yeh gRNA validated for zebrafish model

 Collection (1)

Gene RIF (7)

PMID Text
25473830 TTBK1/2 kinases may represent attractive targets for therapeutic intervention for TDP-43 proteinopathies such as Amyotrophic lateral sclerosis and Frontotemporal lobar degeneration-TDP.
24637750 X-ray diffraction data were collected and the structure of TTBK1 was determined by molecular replacement both as an apo structure and in complex with a kinase inhibitor
23088643 The study suggested that a role for TTBK1 in pre-tangle formation prior to the formation of fibrillar tau and strengthen the idea that tau is phosphorylated at Ser422 at an early/intermediate stage in NFT formation.
21219968 TTBK1 may play an important role in the pathogenesis of sporadic late-onset Alzheimer's disease in a Han Chinese population.
20096481 This study demonistrated that TTBK1 is a promising new candidate tau phosphorylation-related gene for Alzheimer's disease risk.
20096481 Observational study of gene-disease association. (HuGE Navigator)
19118186 TTBK1 in AD brain may be one of the underlying mechanisms inducing CDK5 and calpain activation, NR2B downregulation, and subsequent memory dysfunction.

AA Sequence

MQCLAAALKDETNMSGGGEQADILPANYVVKDRWKVLKKIGGGGFGEIYEAMDLLTRENVALKVESAQQP      1 - 70
KQVLKMEVAVLKKLQGKDHVCRFIGCGRNEKFNYVVMQLQGRNLADLRRSQPRGTFTLSTTLRLGKQILE     71 - 140
SIEAIHSVGFLHRDIKPSNFAMGRLPSTYRKCYMLDFGLARQYTNTTGDVRPPRNVAGFRGTVRYASVNA    141 - 210
HKNREMGRHDDLWSLFYMLVEFAVGQLPWRKIKDKEQVGMIKEKYEHRMLLKHMPSEFHLFLDHIASLDY    211 - 280
FTKPDYQLIMSVFENSMKERGIAENEAFDWEKAGTDALLSTSTSTPPQQNTRQTAAMFGVVNVTPVPGDL    281 - 350
LRENTEDVLQGEHLSDQENAPPILPGRPSEGLGPSPHLVPHPGGPEAEVWEETDVNRNKLRINIGKSPCV    351 - 420
EEEQSRGMGVPSSPVRAPPDSPTTPVRSLRYRRVNSPESERLSTADGRVELPERRSRMDLPGSPSRQACS    421 - 490
SQPAQMLSVDTGHADRQASGRMDVSASVEQEALSNAFRSVPLAEEEDFDSKEWVIIDKETELKDFPPGAE    491 - 560
PSTSGTTDEEPEELRPLPEEGEERRRLGAEPTVRPRGRSMQALAEEDLQHLPPQPLPPQLSQGDGRSETS    561 - 630
QPPTPGSPSHSPLHSGPRPRRRESDPTGPQRQVFSVAPPFEVNGLPRAVPLSLPYQDFKRDLSDYRERAR    631 - 700
LLNRVRRVGFSHMLLTTPQVPLAPVQPQANGKEEEEEEEEDEEEEEEDEEEEEEEEEEEEEEEEEEEEEE    701 - 770
EAAAAVALGEVLGPRSGSSSEGSERSTDRSQEGAPSTLLADDQKESRGRASMADGDLEPEEGSKTLVLVS    771 - 840
PGDMKKSPVTAELAPDPDLGTLAALTPQHERPQPTGSQLDVSEPGTLSSVLKSEPKPPGPGAGLGAGTVT    841 - 910
TGVGGVAVTSSPFTKVERTFVHIAEKTHLNVMSSGGQALRSEEFSAGGELGLELASDGGAVEEGARAPLE    911 - 980
NGLALSGLNGAEIEGSALSGAPRETPSEMATNSLPNGPALADGPAPVSPLEPSPEKVATISPRRHAMPGS    981 - 1050
RPRSRIPVLLSEEDTGSEPSGSLSAKERWSKRARPQQDLARLVMEKRQGRLLLRLASGASSSSSEEQRRA   1051 - 1120
SETLSGTGSEEDTPASEPAAALPRKSGRAAATRSRIPRPIGLRMPMPVAAQQPASRSHGAAPALDTAITS   1121 - 1190
RLQLQTPPGSATAADLRPKQPPGRGLGPGRAQAGARPPAPRSPRLPASTSAARNASASPRSQSLSRRESP   1191 - 1260
SPSHQARPGVPPPRGVPPARAQPDGTPSPGGSKKGPRGKLQAQRATTKGRAGGAEGRAGAR            1261 - 1321
//

Text Mined References (20)

PMID Year Title
26508570 2016 De novo variants in sporadic cases of childhood onset schizophrenia.
26323690 2015 TTBK2 with EB1/3 regulates microtubule dynamics in migrating cells through KIF2A phosphorylation.
25673844 2015 Phosphorylation of synaptic vesicle protein 2A at Thr84 by casein kinase 1 family kinases controls the specific retrieval of synaptotagmin-1.
25473830 2014 The tau tubulin kinases TTBK1/2 promote accumulation of pathological TDP-43.
24637750 2014 The structure of human tau-tubulin kinase 1 both in the apo form and in complex with an inhibitor.
23088643 2013 Tau-tubulin kinase 1 expression, phosphorylation and co-localization with phospho-Ser422 tau in the Alzheimer's disease brain.
22926577 2012 Quantitative proteomic analysis of human substantia nigra in Alzheimer's disease, Huntington's disease and Multiple sclerosis.
21219968 2011 Tau-tubulin kinase-1 gene variants are associated with Alzheimer's disease in Han Chinese.
20096481 2011 Genetic variations in tau-tubulin kinase-1 are linked to Alzheimer's disease in a Spanish case-control cohort.
19118186 2008 Spatial learning impairment, enhanced CDK5/p35 activity, and downregulation of NMDA receptor expression in transgenic mice expressing tau-tubulin kinase 1.
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