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Aliases for TTBK1 Gene

Aliases for TTBK1 Gene

  • Tau Tubulin Kinase 1 2 3 5
  • Brain-Derived Tau Kinase 3 4
  • BDTK 3 4
  • Tau-Tubulin Kinase 1 3
  • EC 4
  • EC 2.7.11 58
  • KIAA1855 4

External Ids for TTBK1 Gene

Previous GeneCards Identifiers for TTBK1 Gene

  • GC06P043221
  • GC06P043259
  • GC06P043319
  • GC06P042933

Summaries for TTBK1 Gene

Entrez Gene Summary for TTBK1 Gene

  • 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]

GeneCards Summary for TTBK1 Gene

TTBK1 (Tau Tubulin Kinase 1) is a Protein Coding gene. Diseases associated with TTBK1 include Childhood-Onset Schizophrenia. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is TTBK2.

UniProtKB/Swiss-Prot for TTBK1 Gene

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

Additional gene information for TTBK1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TTBK1 Gene

Genomics for TTBK1 Gene

Regulatory Elements for TTBK1 Gene

Enhancers for TTBK1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06H043390 1.5 Ensembl ENCODE dbSUPER 11 +149.0 148969 3.5 HDGF PKNOX1 ARNT TCF12 ZNF766 GATA2 ZNF592 SMARCA4 GLIS1 PBX2 ABCC10 CRIP3 RPL12P47 DLK2 TTBK1 DNPH1 POLR1C YIPF3 LRRC73 ZNF318
GH06H043382 1.4 Ensembl ENCODE dbSUPER 11 +140.4 140375 2.7 PKNOX1 TBL1XR1 BMI1 YBX1 BATF YY1 FOS ATF7 ETV6 RUNX3 SLC22A7 ABCC10 CRIP3 RPL12P47 DLK2 TTBK1 DNPH1 RNU6-1113P TJAP1 LRRC73
GH06H043312 0.8 Ensembl ENCODE 11.2 +69.6 69598 1 ZNF217 MEF2D SMARCA5 IKZF1 CEBPB NBN CEBPG SLC22A7 TTBK1 DNPH1 DLK2 LRRC73 POLR1C YIPF3 TJAP1 RNU6-1113P ZNF318
GH06H043184 0.8 ENCODE dbSUPER 11 -57.8 -57847 1.5 ZFP64 HLF CEBPB ZBTB20 DNPH1 ENSG00000245261 TTBK1 PPP2R5D PEX6 MEA1 KLHDC3 CUL7 CUL9
GH06H043386 0.8 ENCODE dbSUPER 11 +143.2 143184 0.2 CTCF PKNOX1 SMC3 ZNF143 RAD21 ZNF592 ABCC10 CRIP3 RPL12P47 DLK2 TTBK1 DNPH1 POLR1C YIPF3 LRRC73 SLC22A7
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TTBK1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for TTBK1 Gene

Genomic Locations for TTBK1 Gene
44,776 bases
Plus strand

Genomic View for TTBK1 Gene

Genes around TTBK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTBK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TTBK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTBK1 Gene

Proteins for TTBK1 Gene

  • Protein details for TTBK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Tau-tubulin kinase 1
    Protein Accession:
    Secondary Accessions:
    • A2A2U5
    • Q2L6C6
    • Q6ZNH0
    • Q8N444
    • Q96JH2

    Protein attributes for TTBK1 Gene

    1321 amino acids
    Molecular mass:
    142737 Da
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for TTBK1 Gene

    Alternative splice isoforms for TTBK1 Gene


neXtProt entry for TTBK1 Gene

Selected DME Specific Peptides for TTBK1 Gene


Post-translational modifications for TTBK1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for TTBK1
  • Santa Cruz Biotechnology (SCBT) Antibodies for TTBK1

Domains & Families for TTBK1 Gene

Gene Families for TTBK1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for TTBK1 Gene

Suggested Antigen Peptide Sequences for TTBK1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family.
  • Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family.
genes like me logo Genes that share domains with TTBK1: view

Function for TTBK1 Gene

Molecular function for TTBK1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot Function:
Serine/threonine kinase which is able to phosphorylate TAU on serine, threonine and tyrosine residues. Induces aggregation of TAU.

Enzyme Numbers (IUBMB) for TTBK1 Gene

Phenotypes From GWAS Catalog for TTBK1 Gene

Gene Ontology (GO) - Molecular Function for TTBK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IBA --
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with TTBK1: view
genes like me logo Genes that share phenotypes with TTBK1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TTBK1 Gene

Localization for TTBK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TTBK1 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TTBK1 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TTBK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with TTBK1: view

Pathways & Interactions for TTBK1 Gene

SuperPathways for TTBK1 Gene

No Data Available

SIGNOR curated interactions for TTBK1 Gene


Gene Ontology (GO) - Biological Process for TTBK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0008360 regulation of cell shape IBA --
GO:0016310 phosphorylation IEA --
GO:0018105 peptidyl-serine phosphorylation IBA --
GO:0021762 substantia nigra development IEP 22926577
genes like me logo Genes that share ontologies with TTBK1: view

No data available for Pathways by source for TTBK1 Gene

Drugs & Compounds for TTBK1 Gene

(4) Drugs for TTBK1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 35
ATP Nutra Agonist 0
calcium Nutra 0
Magnesium Nutra 0

(1) Additional Compounds for TTBK1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with TTBK1: view

Transcripts for TTBK1 Gene

mRNA/cDNA for TTBK1 Gene

(8) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TTBK1 Gene

Tau tubulin kinase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TTBK1 Gene

No ASD Table

Relevant External Links for TTBK1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TTBK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TTBK1 Gene

mRNA differential expression in normal tissues according to GTEx for TTBK1 Gene

This gene is overexpressed in Brain - Cortex (x5.5), Brain - Frontal Cortex (BA9) (x4.9), Brain - Cerebellum (x4.4), Brain - Anterior cingulate cortex (BA24) (x4.4), and Brain - Cerebellar Hemisphere (x4.1).

Protein differential expression in normal tissues from HIPED for TTBK1 Gene

This gene is overexpressed in Fetal Brain (19.8), Pancreatic juice (15.7), Tlymphocyte (12.2), Heart (8.6), and Frontal cortex (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TTBK1 Gene

Protein tissue co-expression partners for TTBK1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TTBK1 Gene:


SOURCE GeneReport for Unigene cluster for TTBK1 Gene:


mRNA Expression by UniProt/SwissProt for TTBK1 Gene:

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, prostate, skeletal muscle, small intestine, spleen, testis, thymus, thyroid or trachea.

Evidence on tissue expression from TISSUES for TTBK1 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with TTBK1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for TTBK1 Gene

Orthologs for TTBK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TTBK1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TTBK1 33 34
  • 99.2 (n)
(Canis familiaris)
Mammalia TTBK1 33 34
  • 89.3 (n)
(Ornithorhynchus anatinus)
Mammalia TTBK1 34
  • 88 (a)
(Mus musculus)
Mammalia Ttbk1 33 16 34
  • 85.9 (n)
(Rattus norvegicus)
Mammalia Ttbk1 33
  • 85.37 (n)
(Monodelphis domestica)
Mammalia TTBK1 34
  • 73 (a)
(Gallus gallus)
Aves TTBK1 33 34
  • 69.84 (n)
(Anolis carolinensis)
Reptilia TTBK1 34
  • 66 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15975 33
(Danio rerio)
Actinopterygii LOC100332125 33
  • 63.59 (n)
TTBK1 (1 of 2) 34
  • 57 (a)
ttbk1b 34
  • 53 (a)
fruit fly
(Drosophila melanogaster)
Insecta Asator 34
  • 26 (a)
(Caenorhabditis elegans)
Secernentea R90.1 34
  • 35 (a)
Species where no ortholog for TTBK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for TTBK1 Gene

Gene Tree for TTBK1 (if available)
Gene Tree for TTBK1 (if available)

Paralogs for TTBK1 Gene

(5) SIMAP similar genes for TTBK1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with TTBK1: view

Variants for TTBK1 Gene

Sequence variations from dbSNP and Humsavar for TTBK1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs267601046 A metastatic melanoma sample 43,283,303(+) TGGCC(C/T)CCGAC intron-variant, reference, missense
VAR_041257 A lung large cell carcinoma sample
rs759748655 Likely pathogenic 43,255,768(+) GCACC(A/G)GATGC reference, missense
rs200815594 Uncertain significance 43,253,565(+) CCATG(C/T)AGGGC intron-variant
rs1000054612 -- 43,287,905(+) CACAC(C/T)GTGCA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for TTBK1 Gene

Variant ID Type Subtype PubMed ID
nsv950170 CNV deletion 24416366
nsv602999 CNV loss 21841781
nsv602998 CNV loss 21841781
nsv602997 CNV loss 21841781
nsv525187 CNV loss 19592680
nsv517442 CNV loss 19592680
nsv478757 CNV novel sequence insertion 20440878
nsv1017398 CNV gain 25217958

Variation tolerance for TTBK1 Gene

Residual Variation Intolerance Score: 13.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.34; 98.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TTBK1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTBK1 Gene

Disorders for TTBK1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TTBK1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
childhood-onset schizophrenia
  • childhood schizophrenia
- elite association - COSMIC cancer census association via MalaCards
Search TTBK1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TTBK1

Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with TTBK1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TTBK1 Gene

Publications for TTBK1 Gene

  1. Tau-tubulin kinase 1 (TTBK1), a neuron-specific tau kinase candidate, is involved in tau phosphorylation and aggregation. (PMID: 16923168) Sato S … Ikezu T (Journal of neurochemistry 2006) 3 4 22 60
  2. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11347906) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4 60
  3. Spatial learning impairment, enhanced CDK5/p35 activity, and downregulation of NMDA receptor expression in transgenic mice expressing tau-tubulin kinase 1. (PMID: 19118186) Sato S … Ikezu T (The Journal of neuroscience : the official journal of the Society for Neuroscience 2008) 3 22 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for TTBK1 Gene

Sources for TTBK1 Gene

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