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TTBK1 tau tubulin kinase 1 [ Homo sapiens (human) ]

Gene ID: 84630, updated on 25-Oct-2022

Summary

Official Symbol
TTBK1provided by HGNC
Official Full Name
tau tubulin kinase 1provided by HGNC
Primary source
HGNC:HGNC:19140
See related
Ensembl:ENSG00000146216 MIM:619415; AllianceGenome:HGNC:19140
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BDTK
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]
Expression
Biased expression in brain (RPKM 4.4), small intestine (RPKM 0.9) and 4 other tissues See more
Orthologs
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Genomic context

See TTBK1 in Genome Data Viewer
Location:
6p21.1
Exon count:
16
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (43243481..43288258)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (43072270..43117062)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (43211219..43255996)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene cullin 9 Neighboring gene 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 Neighboring gene Sharpr-MPRA regulatory region 10500 Neighboring gene uncharacterized LOC124901319 Neighboring gene solute carrier family 22 member 7

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1855

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables protein serine kinase activity IGI
Inferred from Genetic Interaction
more info
PubMed 
enables protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables tau protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables tau-protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in learning or memory IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of protein binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in peptidyl-serine phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in peptidyl-serine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in peptidyl-serine phosphorylation IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in peptidyl-threonine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in peptidyl-tyrosine phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in peptidyl-tyrosine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of positive regulation of astrocyte activation IC
Inferred by Curator
more info
PubMed 
involved_in positive regulation of cyclin-dependent protein kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of cysteine-type endopeptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of microglial cell activation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of protein polymerization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in substantia nigra development HEP PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
part_of microtubule associated complex IC
Inferred by Curator
more info
 
located_in neuronal cell body IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in perinuclear region of cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 

General protein information

Preferred Names
tau-tubulin kinase 1
Names
brain-derived tau kinase
NP_115927.1
XP_011513249.1
XP_011513250.1
XP_016866853.1
XP_016866854.1
XP_016866855.1
XP_016866856.1
XP_016866857.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_051244.1 RefSeqGene

    Range
    4802..49579
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_032538.3NP_115927.1  tau-tubulin kinase 1

    See identical proteins and their annotated locations for NP_115927.1

    Status: REVIEWED

    Source sequence(s)
    AB218664, AK131217, AL133375, BC036764
    Consensus CDS
    CCDS34455.1
    UniProtKB/Swiss-Prot
    Q5TCY1, Q96JH2
    Related
    ENSP00000259750.4, ENST00000259750.9
    Conserved Domains (2) summary
    smart00220
    Location:34275
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14130
    Location:33294
    STKc_TTBK1; Catalytic domain of the Serine/Threonine protein kinase, Tau-Tubulin Kinase 1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    43243481..43288258
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011364.2XP_016866853.1  tau-tubulin kinase 1 isoform X1

  2. XM_017011365.2XP_016866854.1  tau-tubulin kinase 1 isoform X2

  3. XM_011514947.3XP_011513249.1  tau-tubulin kinase 1 isoform X3

    Conserved Domains (2) summary
    smart00220
    Location:34275
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14130
    Location:33294
    STKc_TTBK1; Catalytic domain of the Serine/Threonine protein kinase, Tau-Tubulin Kinase 1
  4. XM_017011366.2XP_016866855.1  tau-tubulin kinase 1 isoform X4

  5. XM_017011367.2XP_016866856.1  tau-tubulin kinase 1 isoform X5

    Related
    ENSP00000515493.1, ENST00000703836.1
  6. XM_011514948.3XP_011513250.1  tau-tubulin kinase 1 isoform X6

    Conserved Domains (1) summary
    PHA03307
    Location:420713
    PHA03307; transcriptional regulator ICP4; Provisional
  7. XM_017011368.2XP_016866857.1  tau-tubulin kinase 1 isoform X7

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    43072270..43117062
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)