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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
  • EC 2.7.11.1 4
  • EC 2.7.11 63
  • KIAA1855 4

External Ids for TTBK1 Gene

Previous GeneCards Identifiers for TTBK1 Gene

  • GC06P043221
  • GC06P043259
  • GC06P043319
  • GC06P042933

Summaries for TTBK1 Gene

GeneCards Summary for TTBK1 Gene

TTBK1 (Tau Tubulin Kinase 1) is a Protein Coding gene. Diseases associated with TTBK1 include Spinocerebellar Ataxia 11. 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 CSNK1G2.

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.

No data available for Entrez Gene 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TTBK1 on UCSC Golden Path with GeneCards custom track

Genomic Location for TTBK1 Gene

Chromosome:
6
Start:
43,243,484 bp from pter
End:
43,288,259 bp from pter
Size:
44,776 bases
Orientation:
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:
    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

Proteomics data for TTBK1 Gene at MOPED

Selected DME Specific Peptides for TTBK1 Gene

Post-translational modifications for TTBK1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TTBK1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for TTBK1 Gene

Gene Families for TTBK1 Gene

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 :
  • Contains 1 protein kinase domain.
  • Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family.
Domain:
  • Contains 1 protein kinase domain.
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

Gene Ontology (GO) - Molecular Function for TTBK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding 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

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
Jensen Localization Image for TTBK1 Gene COMPARTMENTS Subcellular localization image for TTBK1 gene
Compartment Confidence
cytosol 3
nucleus 2
cytoskeleton 1

No data available for Gene Ontology (GO) - Cellular Components for TTBK1 Gene

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:0008360 regulation of cell shape 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
Adenosine triphosphate Approved Nutra 0
Manganese Pharma 32
calcium Nutra 0
Magnesium Nutra 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

Unigene Clusters for TTBK1 Gene

Tau tubulin kinase 1:
Representative Sequences:

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 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



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.
genes like me logo Genes that share expression patterns with TTBK1: view

Protein tissue co-expression partners for TTBK1 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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
dog
(Canis familiaris)
Mammalia TTBK1 35
  • 89.3 (n)
  • 91.39 (a)
TTBK1 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ttbk1 35
  • 85.9 (n)
  • 90.02 (a)
Ttbk1 16
Ttbk1 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TTBK1 35
  • 99.2 (n)
  • 98.91 (a)
TTBK1 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ttbk1 35
  • 85.37 (n)
  • 89.09 (a)
oppossum
(Monodelphis domestica)
Mammalia TTBK1 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TTBK1 36
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves TTBK1 35
  • 69.84 (n)
  • 75.36 (a)
TTBK1 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TTBK1 36
  • 66 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15975 35
zebrafish
(Danio rerio)
Actinopterygii LOC100332125 35
  • 63.59 (n)
  • 65.93 (a)
TTBK1 (1 of 2) 36
  • 57 (a)
OneToMany
ttbk1b 36
  • 53 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Asator 36
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea R90.1 36
  • 35 (a)
OneToMany
Species with no ortholog for TTBK1:
  • 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 Sequence Context AA Info Type
rs34993661 - 43,263,202(+) GCCGC(C/T)CCAGC reference, missense
rs3800294 - 43,263,232(+) CCAGG(C/G/T)CGATG reference, missense
rs35175743 - 43,263,310(+) CCGCC(C/G)TCGAC reference, missense
VAR_041255 -
VAR_041256 -

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

Variant ID Type Subtype PubMed ID
dgv6839n71 CNV Loss 21882294
dgv6840n71 CNV Loss 21882294
nsv517442 CNV Loss 19592680
nsv525187 CNV Loss 19592680

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for TTBK1 Gene

Disorders for TTBK1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
spinocerebellar ataxia 11
  • spinocerebellar ataxia type 11
- 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
TTBK1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. 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 Res. 2001) 2 3 4 67
  2. 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. (J. Neurosci. 2008) 3 23
  3. TTBK2 with EB1/3 regulates microtubule dynamics in migrating cells through KIF2A phosphorylation. (PMID: 26323690) Watanabe T. … Kaibuchi K. (J. Cell Biol. 2015) 3
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. The structure of human tau-tubulin kinase 1 both in the apo form and in complex with an inhibitor. (PMID: 24637750) Kiefer S.E. … Sheriff S. (Acta Crystallogr F Struct Biol Commun 2014) 3

Products for TTBK1 Gene

Sources for TTBK1 Gene

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