TTBK1 - tau tubulin kinase 1 Gene

Also Known as BDTK

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84630

About TTBK1

Cytogenetic location: 6p21.1 Genomic coordinates (GRCh38): 6:43,243,481-43,288,258 (from NCBI)

This gene has 3 transcripts (splice variants), 195 orthologues and 12 paralogues. Biased expression in brain (RPKM 4.4), small intestine (RPKM 0.9) and 4 other tissues.

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. Genetic variants in this gene are associated with Alzheimer's disease. [provided by RefSeq, Jul 2016]

TTBK1 Products (1)

mRNA	Protein	Name
NM_032538.3	NP_115927.1	tau-tubulin kinase 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein serine kinase activity	IGI IGI: Inferred from genetic interaction	30556160	GOA
enables protein serine/threonine kinase activity	IDA IDA: Inferred from direct assay	16923168	GOA
enables protein tyrosine kinase activity	IDA IDA: Inferred from direct assay	16923168	GOA
enables tau protein binding	IPI IPI: Inferred from physical interaction	16923168	GOA
enables tau-protein kinase activity	IDA IDA: Inferred from direct assay	16923168	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in learning or memory	IMP IMP: Inferred from mutant phenotype	19118186	GOA
involved in negative regulation of gene expression	IMP IMP: Inferred from mutant phenotype	19118186	GOA
involved in negative regulation of protein binding	IMP IMP: Inferred from mutant phenotype	19118186	GOA
involved in peptidyl-serine phosphorylation	IDA IDA: Inferred from direct assay	16923168	GOA
involved in peptidyl-serine phosphorylation	IGI IGI: Inferred from genetic interaction	30556160	GOA
involved in peptidyl-threonine phosphorylation	IDA IDA: Inferred from direct assay	16923168	GOA
involved in peptidyl-tyrosine phosphorylation	IDA IDA: Inferred from direct assay	16923168	GOA
involved in positive regulation of cyclin-dependent protein kinase activity	IMP IMP: Inferred from mutant phenotype	19118186	GOA
involved in positive regulation of cysteine-type endopeptidase activity	IMP IMP: Inferred from mutant phenotype	19118186	GOA
involved in positive regulation of gene expression	IMP IMP: Inferred from mutant phenotype	19118186	GOA
involved in positive regulation of microglial cell activation	IMP IMP: Inferred from mutant phenotype	19118186	GOA
involved in positive regulation of protein polymerization	IDA IDA: Inferred from direct assay	16923168	GOA
involved in protein phosphorylation	IMP IMP: Inferred from mutant phenotype	19118186	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in neuronal cell body	IDA IDA: Inferred from direct assay	16923168	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TTBK1 Protein Structure

Pkinase

0
300
600
900
1200
1321 a.a.

Protein Preferred Names	Protein Names
tau-tubulin kinase 1	brain-derived tau kinase

Related Diseases

Diseases	Alias
Childhood-Onset Schizophrenia	Childhood Schizophrenia Schizophrenia, Childhood
Spinocerebellar Ataxia 11	Spinocerebellar Ataxia Type 11 SCA11 Spinocerebellar Ataxia-11 Ataxia, Spinocerebellar, Type 11
Seckel Syndrome 8	SCKL8 Seckel Syndrome, Type 8
Cutaneous Anthrax	Anthrax, Skin Type Skin Anthrax
Pick Disease Of Brain	Pick Disease Pick'S Disease Pick Disease Of The Brain Lobar Atrophy Of Brain Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions Behavioral Variant Of Frontotemporal Dementia Dementia In Pick'S Disease Lobar Atrophy Of The Brain Bvftd Bv-Ftd PIDB Picks Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (14)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-134968	TTBK1-IN-1	Inhibitor	99.17%	Unkown
HY-145313	TTBK1-IN-2	Inhibitor	99.91%	Unkown
HY-172545	AMG28	Inhibitor	99.74%	Unkown
HY-134968A	(R)-TTBK1-IN-1	Inhibitor	98.93%	Unkown
HY-172544	TTBK1/2-IN-3	Inhibitor	/	Unkown
HY-157307	TTBK1-IN-4	Inhibitor	/	Unkown
HY-157310	TTBK1-IN-3	Inhibitor	/	Unkown
HY-172542	TTBK1/2-IN-1	Inhibitor	/	Unkown
HY-172543	TTBK1/2-IN-2	Inhibitor	/	Unkown
HY-RS15193	TTBK1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-179342	TTBK1-IN-5	Inhibitor	/	Unkown
HY-RS17713	Ttbk1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21071	Ttbk2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24178	Ttbk1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	TTBK1	VGNC	VGNC:81597
Bos taurus	TTBK1	VGNC	VGNC:107004
Mus musculus	TTBK1	MGD	MGI:2147036
Canis familiaris	TTBK1	VGNC	VGNC:57237
Rattus norvegicus	TTBK1	RGD	RGD:1559518
Felis catus	TTBK1	VGNC	VGNC:97670
Others	TTBK1	NCBI