Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	84630
Gene name	Tau tubulin kinase 1
Gene symbol	TTBK1
Synonyms (NCBI Gene)	BDTK
Chromosome	6
Chromosome location	6p21.1
Summary	Summary:This gene belongs to the casein kinase 1 superfamily. The encoded protein is a neuron-specific, serine/threonine and tyrosine kinase, which regulates phosphorylation of tau, a protein that associates with microtubule assemblies and stabilizes them

SNP ID	Visualize variation	Clinical significance	Consequence
rs759748655	G>A,T	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant

159 Show/Hide all (159)

miRTarBase ID	miRNA	Experiments	Reference
MIRT732671	hsa-miR-181c-5p	In situ hybridizationLuciferase reporter assayqRT-PCRWestern blotting	32891070
MIRT1460748	hsa-miR-1197	CLIP-seq
MIRT1460749	hsa-miR-1254	CLIP-seq
MIRT1460750	hsa-miR-1255a	CLIP-seq
MIRT1460751	hsa-miR-1255b	CLIP-seq
MIRT1460752	hsa-miR-223	CLIP-seq
MIRT1460753	hsa-miR-3116	CLIP-seq
MIRT1460754	hsa-miR-3176	CLIP-seq
MIRT1460755	hsa-miR-3545-3p	CLIP-seq
MIRT1460756	hsa-miR-3605-5p	CLIP-seq
MIRT1460757	hsa-miR-3664-3p	CLIP-seq
MIRT1460758	hsa-miR-3689a-3p	CLIP-seq
MIRT1460759	hsa-miR-3689c	CLIP-seq
MIRT1460760	hsa-miR-3922-3p	CLIP-seq
MIRT1460761	hsa-miR-4257	CLIP-seq
MIRT1460762	hsa-miR-4259	CLIP-seq
MIRT1460763	hsa-miR-4292	CLIP-seq
MIRT1460764	hsa-miR-4300	CLIP-seq
MIRT1460765	hsa-miR-4308	CLIP-seq
MIRT1460766	hsa-miR-4425	CLIP-seq
MIRT1460767	hsa-miR-4649-5p	CLIP-seq
MIRT1460768	hsa-miR-4680-5p	CLIP-seq
MIRT1460769	hsa-miR-4701-5p	CLIP-seq
MIRT1460770	hsa-miR-4712-3p	CLIP-seq
MIRT1460771	hsa-miR-4795-5p	CLIP-seq
MIRT1460772	hsa-miR-510	CLIP-seq
MIRT1460773	hsa-miR-544b	CLIP-seq
MIRT1460774	hsa-miR-588	CLIP-seq
MIRT1460775	hsa-miR-604	CLIP-seq
MIRT1460776	hsa-miR-647	CLIP-seq
MIRT1460777	hsa-miR-873	CLIP-seq
MIRT1460778	hsa-miR-920	CLIP-seq
MIRT1460771	hsa-miR-4795-5p	CLIP-seq
MIRT1460749	hsa-miR-1254	CLIP-seq
MIRT1460753	hsa-miR-3116	CLIP-seq
MIRT1460754	hsa-miR-3176	CLIP-seq
MIRT1460760	hsa-miR-3922-3p	CLIP-seq
MIRT1460771	hsa-miR-4795-5p	CLIP-seq
MIRT1460775	hsa-miR-604	CLIP-seq
MIRT1460776	hsa-miR-647	CLIP-seq
MIRT2138363	hsa-miR-1286	CLIP-seq
MIRT2138364	hsa-miR-1321	CLIP-seq
MIRT2138365	hsa-miR-2110	CLIP-seq
MIRT2138366	hsa-miR-302a	CLIP-seq
MIRT2138367	hsa-miR-302b	CLIP-seq
MIRT2138368	hsa-miR-302c	CLIP-seq
MIRT2138369	hsa-miR-302d	CLIP-seq
MIRT2138370	hsa-miR-302e	CLIP-seq
MIRT2138371	hsa-miR-3126-5p	CLIP-seq
MIRT2138372	hsa-miR-3612	CLIP-seq
MIRT2138373	hsa-miR-3650	CLIP-seq
MIRT2138374	hsa-miR-3689d	CLIP-seq
MIRT2138375	hsa-miR-372	CLIP-seq
MIRT2138376	hsa-miR-373	CLIP-seq
MIRT2138377	hsa-miR-4254	CLIP-seq
MIRT2138378	hsa-miR-4271	CLIP-seq
MIRT2138379	hsa-miR-4281	CLIP-seq
MIRT1460763	hsa-miR-4292	CLIP-seq
MIRT1460765	hsa-miR-4308	CLIP-seq
MIRT2138380	hsa-miR-4419a	CLIP-seq
MIRT2138381	hsa-miR-4510	CLIP-seq
MIRT2138382	hsa-miR-4663	CLIP-seq
MIRT1460769	hsa-miR-4701-5p	CLIP-seq
MIRT2138383	hsa-miR-4722-5p	CLIP-seq
MIRT2138384	hsa-miR-4725-3p	CLIP-seq
MIRT2138385	hsa-miR-4739	CLIP-seq
MIRT2138386	hsa-miR-4756-5p	CLIP-seq
MIRT2138387	hsa-miR-486-3p	CLIP-seq
MIRT2138388	hsa-miR-512-3p	CLIP-seq
MIRT2138389	hsa-miR-520a-3p	CLIP-seq
MIRT2138390	hsa-miR-520b	CLIP-seq
MIRT2138391	hsa-miR-520c-3p	CLIP-seq
MIRT2138392	hsa-miR-520d-3p	CLIP-seq
MIRT2138393	hsa-miR-520e	CLIP-seq
MIRT1460774	hsa-miR-588	CLIP-seq
MIRT1460776	hsa-miR-647	CLIP-seq
MIRT2138394	hsa-miR-650	CLIP-seq
MIRT2138395	hsa-miR-939	CLIP-seq
MIRT2359278	hsa-miR-1224-3p	CLIP-seq
MIRT2359279	hsa-miR-1825	CLIP-seq
MIRT2359280	hsa-miR-188-3p	CLIP-seq
MIRT2359281	hsa-miR-193a-3p	CLIP-seq
MIRT2359282	hsa-miR-193b	CLIP-seq
MIRT2359283	hsa-miR-199a-5p	CLIP-seq
MIRT2359284	hsa-miR-199b-5p	CLIP-seq
MIRT2359285	hsa-miR-2467-5p	CLIP-seq
MIRT2359286	hsa-miR-3153	CLIP-seq
MIRT2359287	hsa-miR-3160-3p	CLIP-seq
MIRT2359288	hsa-miR-3652	CLIP-seq
MIRT2359289	hsa-miR-3925-3p	CLIP-seq
MIRT2138379	hsa-miR-4281	CLIP-seq
MIRT2359290	hsa-miR-4286	CLIP-seq
MIRT1460764	hsa-miR-4300	CLIP-seq
MIRT2359291	hsa-miR-4302	CLIP-seq
MIRT2359292	hsa-miR-4430	CLIP-seq
MIRT2359293	hsa-miR-4505	CLIP-seq
MIRT2359294	hsa-miR-4640-3p	CLIP-seq
MIRT2359295	hsa-miR-4646-5p	CLIP-seq
MIRT2359296	hsa-miR-4668-5p	CLIP-seq
MIRT2359297	hsa-miR-4731-5p	CLIP-seq
MIRT2359298	hsa-miR-4743	CLIP-seq
MIRT2359299	hsa-miR-485-5p	CLIP-seq
MIRT2359300	hsa-miR-558	CLIP-seq
MIRT2359301	hsa-miR-564	CLIP-seq
MIRT2359302	hsa-miR-644	CLIP-seq
MIRT1460778	hsa-miR-920	CLIP-seq
MIRT2396447	hsa-miR-4755-5p	CLIP-seq
MIRT1460771	hsa-miR-4795-5p	CLIP-seq
MIRT2462560	hsa-miR-1184	CLIP-seq
MIRT2462561	hsa-miR-1205	CLIP-seq
MIRT2462562	hsa-miR-1207-3p	CLIP-seq
MIRT2462563	hsa-miR-2467-3p	CLIP-seq
MIRT2462564	hsa-miR-3151	CLIP-seq
MIRT2462565	hsa-miR-3158-5p	CLIP-seq
MIRT2359288	hsa-miR-3652	CLIP-seq
MIRT2462566	hsa-miR-3663-5p	CLIP-seq
MIRT2462567	hsa-miR-3678-3p	CLIP-seq
MIRT2462568	hsa-miR-3919	CLIP-seq
MIRT2462569	hsa-miR-4283	CLIP-seq
MIRT2462570	hsa-miR-4318	CLIP-seq
MIRT2359292	hsa-miR-4430	CLIP-seq
MIRT2462571	hsa-miR-4447	CLIP-seq
MIRT2462572	hsa-miR-4472	CLIP-seq
MIRT2462573	hsa-miR-4489	CLIP-seq
MIRT2462574	hsa-miR-4492	CLIP-seq
MIRT2462575	hsa-miR-4498	CLIP-seq
MIRT2462576	hsa-miR-4527	CLIP-seq
MIRT2462577	hsa-miR-4786-3p	CLIP-seq
MIRT2462578	hsa-miR-491-5p	CLIP-seq
MIRT2462579	hsa-miR-762	CLIP-seq
MIRT2652493	hsa-miR-2278	CLIP-seq
MIRT2462564	hsa-miR-3151	CLIP-seq
MIRT2652494	hsa-miR-3177-3p	CLIP-seq
MIRT2359288	hsa-miR-3652	CLIP-seq
MIRT2138377	hsa-miR-4254	CLIP-seq
MIRT2462569	hsa-miR-4283	CLIP-seq
MIRT2462570	hsa-miR-4318	CLIP-seq
MIRT2359292	hsa-miR-4430	CLIP-seq
MIRT2462571	hsa-miR-4447	CLIP-seq
MIRT2462572	hsa-miR-4472	CLIP-seq
MIRT2462573	hsa-miR-4489	CLIP-seq
MIRT2462574	hsa-miR-4492	CLIP-seq
MIRT2462575	hsa-miR-4498	CLIP-seq
MIRT2652495	hsa-miR-4732-5p	CLIP-seq
MIRT2462578	hsa-miR-491-5p	CLIP-seq
MIRT2652496	hsa-miR-646	CLIP-seq
MIRT2462579	hsa-miR-762	CLIP-seq
MIRT2462564	hsa-miR-3151	CLIP-seq
MIRT2359288	hsa-miR-3652	CLIP-seq
MIRT2462569	hsa-miR-4283	CLIP-seq
MIRT2462570	hsa-miR-4318	CLIP-seq
MIRT2359292	hsa-miR-4430	CLIP-seq
MIRT2462571	hsa-miR-4447	CLIP-seq
MIRT2462572	hsa-miR-4472	CLIP-seq
MIRT2462573	hsa-miR-4489	CLIP-seq
MIRT2462574	hsa-miR-4492	CLIP-seq
MIRT2462575	hsa-miR-4498	CLIP-seq
MIRT2462578	hsa-miR-491-5p	CLIP-seq
MIRT2462579	hsa-miR-762	CLIP-seq

33 Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	16923168
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IMP	19118186
GO:0004713	Function	Protein tyrosine kinase activity	IDA	16923168
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005875	Component	Microtubule associated complex	IDA	16923168
GO:0007165	Process	Signal transduction	IBA
GO:0007611	Process	Learning or memory	IMP	19118186
GO:0010628	Process	Positive regulation of gene expression	IMP	19118186
GO:0010629	Process	Negative regulation of gene expression	IMP	19118186
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0021762	Process	Substantia nigra development	HEP	22926577
GO:0032273	Process	Positive regulation of protein polymerization	IDA	16923168
GO:0043025	Component	Neuronal cell body	IDA	16923168
GO:0043025	Component	Neuronal cell body	IEA
GO:0048156	Function	Tau protein binding	IPI	16923168
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	ISS	16923168
GO:0050321	Function	Tau-protein kinase activity	IDA	16923168
GO:0061890	Process	Positive regulation of astrocyte activation	IMP	16923168
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0106310	Function	Protein serine kinase activity	IGI	30556160
GO:1903980	Process	Positive regulation of microglial cell activation	IMP	19118186

MIM	HGNC	e!Ensembl
619415	19140	ENSG00000146216

Q5TCY1

Protein name

Tau-tubulin kinase 1 (EC 2.7.11.1) (Brain-derived tau kinase)

Protein function

Serine/threonine kinase which is able to phosphorylate TAU on serine, threonine and tyrosine residues. Induces aggregation of TAU.

PDB

4BTJ , 4BTK , 4BTM , 4NFM , 4NFN , 7JXX , 7JXY , 7Q8V , 7Q8W , 7QHW , 7ZHN , 7ZHO , 7ZHP , 7ZHQ , 8XPZ , 9HHW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00069	Pkinase	34 → 305	Protein kinase domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in the brain, particularly in cortical and hippocampal neurons. Weakly expressed in spinal cord and testis. No expression in adipose tissue, bladder, cervix, colon, esophagus, heart, kidney, liver, lung, ovary, placenta, pros

Sequence

MQCLAAALKDETNMSGGGEQADILPANYVVKDRWKVLKKIGGGGFGEIYEAMDLLTRENV
ALKVESAQQPKQVLKMEVAVLKKLQGKDHVCRFIGCGRNEKFNYVVMQLQGRNLADLRRS
QPRGTFTLSTTLRLGKQILESIEAIHSVGFLHRDIKPSNFAMGRLPSTYRKCYMLDFGLA
RQYTNTTGDVRPPRNVAGFRGTVRYASVNAHKNREMGRHDDLWSLFYMLVEFAVGQLPWR
KIKDKEQVGMIKEKYEHRMLLKHMPSEFHLFLDHIASLDYFTKPDYQLIMSVFENSMKER
GIAENEAFDWEKAGTDALLSTSTSTPPQQNTRQTAAMFGVVNVTPVPGDLLRENTEDVLQ
GEHLSDQENAPPILPGRPSEGLGPSPHLVPHPGGPEAEVWEETDVNRNKLRINIGKSPCV
EEEQSRGMGVPSSPVRAPPDSPTTPVRSLRYRRVNSPESERLSTADGRVELPERRSRMDL
PGSPSRQACSSQPAQMLSVDTGHADRQASGRMDVSASVEQEALSNAFRSVPLAEEEDFDS
KEWVIIDKETELKDFPPGAEPSTSGTTDEEPEELRPLPEEGEERRRLGAEPTVRPRGRSM
QALAEEDLQHLPPQPLPPQLSQGDGRSETSQPPTPGSPSHSPLHSGPRPRRRESDPTGPQ
RQVFSVAPPFEVNGLPRAVPLSLPYQDFKRDLSDYRERARLLNRVRRVGFSHMLLTTPQV
PLAPVQPQANGKEEEEEEEEDEEEEEEDEEEEEEEEEEEEEEEEEEEEEEEAAAAVALGE
VLGPRSGSSSEGSERSTDRSQEGAPSTLLADDQKESRGRASMADGDLEPEEGSKTLVLVS
PGDMKKSPVTAELAPDPDLGTLAALTPQHERPQPTGSQLDVSEPGTLSSVLKSEPKPPGP
GAGLGAGTVTTGVGGVAVTSSPFTKVERTFVHIAEKTHLNVMSSGGQALRSEEFSAGGEL
GLELASDGGAVEEGARAPLENGLALSGLNGAEIEGSALSGAPRETPSEMATNSLPNGPAL
ADGPAPVSPLEPSPEKVATISPRRHAMPGSRPRSRIPVLLSEEDTGSEPSGSLSAKERWS
KRARPQQDLARLVMEKRQGRLLLRLASGASSSSSEEQRRASETLSGTGSEEDTPASEPAA
ALPRKSGRAAATRSRIPRPIGLRMPMPVAAQQPASRSHGAAPALDTAITSRLQLQTPPGS
ATAADLRPKQPPGRGLGPGRAQAGARPPAPRSPRLPASTSAARNASASPRSQSLSRRESP
SPSHQARPGVPPPRGVPPARAQPDGTPSPGGSKKGPRGKLQAQRATTKGRAGGAEGRAGA
R

Sequence length

1321

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Childhood-onset schizophrenia	Likely pathogenic	rs759748655	RCV000202337	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (12)
ANXIETY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC BEHAVIOR	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	29059683	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	29059683	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE	—	GWAS catalog	32047268	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	30487518	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	35396580	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA, CHILDHOOD	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	29531354	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (14)
Alzheimer Disease	Alzheimer disease	Pubtator	23088643, 37059819	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	21219968		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	25473830		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	37059819	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33510822	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	29409526		★★★★★ ★☆☆☆☆ Found in Text Mining only
Large cell carcinoma of lung	Lung Carcinoma	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	34889895	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30342424, 30829560, 31034749		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia Childhood	Schizophrenia	Pubtator	26508570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia, Childhood	Schizophrenia	CLINVAR_DG	26508570		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tauopathies	Tauopathies	BEFREE	19118186, 29409526		★★★★★ ★☆☆☆☆ Found in Text Mining only

TTBK1 (tau tubulin kinase 1)

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