Free for academic non-profit institutions. Other users need a Commercial license

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 2.7.11.1 4
  • EC 2.7.11 56
  • 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 and Alzheimer Disease. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for TTBK1 Gene

Promoters and enhancers for TTBK1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I043243 Promoter 0.9 EPDnew 550.8 +0.2 154 0.1 ATF1 SUZ12 ZEB2 MTA3 CTBP1 POLR2A ZNF629 ZNF143 EZH2 TTBK1 LOC105375064
GH06I043390 Enhancer 1.3 Ensembl ENCODE dbSUPER 11 +149.0 148968 3.5 HDGF PKNOX1 ARNT TCF12 ZNF766 GATA2 NCOA1 MCM5 ZNF592 GMEB1 LOC105375065 GTPBP2 POLH ABCC10 CRIP3 RPL12P47 UBR2 DLK2 TTBK1 DNPH1
GH06I043382 Enhancer 1.2 Ensembl ENCODE dbSUPER 11 +140.4 140374 2.7 PKNOX1 SMAD1 BMI1 YBX1 BATF KLF5 IRF4 YY1 ATF7 ETV6 GC06P043382 SLC22A7 ABCC10 RPL12P47 CRIP3 DLK2 TTBK1 DNPH1 RNU6-1113P TJAP1
GH06I043312 Enhancer 0.7 Ensembl ENCODE 11.2 +69.6 69598 1 SMARCA5 ZNF217 MEF2D IKZF1 CEBPB NBN CEBPG SLC22A7 TTBK1 DNPH1 DLK2 POLR1C LRRC73 YIPF3 TJAP1 RNU6-1113P ZNF318
GH06I043328 Enhancer 0.7 ENCODE 11.2 +85.2 85214 0.2 ARID4B CEBPG ZNF644 TEAD3 FOSL1 CTBP1 FOS ZNF600 HOMEZ GATAD2A RPL34P14 TTBK1 DNPH1 ZNF318 DLK2 CUL9 LRRC73 POLR1C YIPF3 GC06P043362
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TTBK1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TTBK1 gene promoter:

Genomic Locations for TTBK1 Gene

Genomic Locations for TTBK1 Gene
chr6:43,243,484-43,288,259
(GRCh38/hg38)
Size:
44,776 bases
Orientation:
Plus strand
chr6:43,211,222-43,255,997
(GRCh37/hg19)

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:
    Q5TCY1-TTBK1_HUMAN
    Recommended name:
    Tau-tubulin kinase 1
    Protein Accession:
    Q5TCY1
    Secondary Accessions:
    • A2A2U5
    • Q2L6C6
    • Q6ZNH0
    • Q8N444
    • Q96JH2

    Protein attributes for TTBK1 Gene

    Size:
    1321 amino acids
    Molecular mass:
    142737 Da
    Cofactor:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for TTBK1 Gene

Selected DME Specific Peptides for TTBK1 Gene

Q5TCY1:
  • FLHRDIK
  • LDFGLAR

Post-translational modifications for TTBK1 Gene

No Post-translational modifications

Antibody Products

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

Domains & Families for TTBK1 Gene

Gene Families for TTBK1 Gene

IUPHAR :
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

Q5TCY1

UniProtKB/Swiss-Prot:

TTBK1_HUMAN :
  • Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family.
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

Cytoplasm.

Subcellular locations from

COMPARTMENTS
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 3

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 --
GO:0045298 colocalizes_with tubulin complex IDA,IEA 16923168
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

Inactivates:

Gene Ontology (GO) - Biological Process for TTBK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IMP,IEA 19118186
GO:0007611 learning or memory IMP 19118186
GO:0008360 regulation of cell shape IBA --
GO:0010628 positive regulation of gene expression IMP 19118186
GO:0010629 negative regulation of gene expression IMP 19118186
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
calcium Approved Nutra 0
Magnesium Approved Nutra 0
Manganese Approved Nutra 37
ATP Investigational Nutra Agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 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
TTBK1
ECgene alternative splicing isoforms for
TTBK1

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:

TTBK1

SOURCE GeneReport for Unigene cluster for TTBK1 Gene:

Hs.485436

mRNA Expression by UniProt/SwissProt for TTBK1 Gene:

Q5TCY1-TTBK1_HUMAN
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
chimpanzee
(Pan troglodytes)
Mammalia TTBK1 33 34
  • 99.2 (n)
dog
(Canis familiaris)
Mammalia TTBK1 33 34
  • 89.3 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TTBK1 34
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ttbk1 33 16 34
  • 85.9 (n)
rat
(Rattus norvegicus)
Mammalia Ttbk1 33
  • 85.37 (n)
oppossum
(Monodelphis domestica)
Mammalia TTBK1 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves TTBK1 33 34
  • 69.84 (n)
lizard
(Anolis carolinensis)
Reptilia TTBK1 34
  • 66 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15975 33
zebrafish
(Danio rerio)
Actinopterygii LOC100332125 33
  • 63.59 (n)
TTBK1 (1 of 2) 34
  • 57 (a)
OneToMany
ttbk1b 34
  • 53 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Asator 34
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea R90.1 34
  • 35 (a)
OneToMany
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

ENSEMBL:
Gene Tree for TTBK1 (if available)
TreeFam:
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 Variation AA Info Type
rs267601046 A metastatic melanoma sample 43,283,303(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs759748655 likely-pathogenic, Childhood-Onset Schizophrenia 43,255,768(+) G/A/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
VAR_041257 A lung large cell carcinoma sample p.Ser806Phe
rs200815594 uncertain-significance, not specified 43,253,565(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000054612 -- 43,287,905(+) C/A/G/T 3_prime_UTR_variant, genic_downstream_transcript_variant

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

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

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)

Additional Variant Information for TTBK1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTBK1

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

Disorders for TTBK1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TTBK1 Gene - From: DISEASES and GeneCards

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

Additional Disease Information for TTBK1

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 58
  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 58
  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 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58

Products for TTBK1 Gene

Sources for TTBK1 Gene

Content
Loading form....