Ttbk1 tau tubulin kinase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ttbk1provided by MGI
Official Full Name: tau tubulin kinase 1provided by MGI
Primary source: MGI:MGI:2147036
See related: Ensembl:ENSMUSG00000015599 AllianceGenome:MGI:2147036
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: C330008L01Rik
Summary: Predicted to enable protein kinase activity and tau protein binding activity. Predicted to be involved in several processes, including positive regulation of macromolecule metabolic process; positive regulation of microglial cell activation; and protein phosphorylation. Predicted to act upstream of or within phosphorylation. Located in neuronal cell body and perinuclear region of cytoplasm. Is expressed in ganglia; nose; trigeminal nerve; and ventral grey horn. Orthologous to human TTBK1 (tau tubulin kinase 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in testis adult (RPKM 25.9), cortex adult (RPKM 8.6) and 6 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 C; 17 22.9 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (46751577..46798596, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (46442448..46487675, complement)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mechanisms of Regulation and Diverse Activities of Tau-Tubulin Kinase (TTBK) Isoforms.
Title: Mechanisms of Regulation and Diverse Activities of Tau-Tubulin Kinase (TTBK) Isoforms.
Long non-coding RNA 00507/miRNA-181c-5p/TTBK1/MAPT axis regulates tau hyperphosphorylation in Alzheimer's disease.
Title: Long non-coding RNA 00507/miRNA-181c-5p/TTBK1/MAPT axis regulates tau hyperphosphorylation in Alzheimer's disease.
Tau-tubulin kinase 1 and amyloid-beta peptide induce phosphorylation of collapsin response mediator protein-2 and enhance neurite degeneration in Alzheimer disease mouse models.
Title: Tau-tubulin kinase 1 and amyloid-β peptide induce phosphorylation of collapsin response mediator protein-2 and enhance neurite degeneration in Alzheimer disease mouse models.
the acute effects of TTBK1 inhibition on tau phosphorylation in vivo, is reported.
Title: Acute inhibition of the CNS-specific kinase TTBK1 significantly lowers tau phosphorylation at several disease relevant sites.
TTBK1 accelerates motor neuron neurodegeneration by recruiting proinflammatory monocytes and enhancing sensitivity to neurotoxicity in inflammatory conditions.
Title: Accelerated neurodegeneration and neuroinflammation in transgenic mice expressing P301L tau mutant and tau-tubulin kinase 1.
TTBK1 up-regulation enhances tau phosphorylation and oligomerization, whose toxicity results in enhanced neurodegeneration and locomotor dysfunction in a tauopathy animal model.
Title: Tau-tubulin kinase 1 enhances prefibrillar tau aggregation and motor neuron degeneration in P301L FTDP-17 tau-mutant mice.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW048023 (e-PCR)
- UniSTS:181018

AU017937 (e-PCR)
- UniSTS:181024

RH140426 (e-PCR)
- UniSTS:222501

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables kinase activity	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein kinase activity	IEA Inferred from Electronic Annotation more info
enables protein serine kinase activity	ISO Inferred from Sequence Orthology more info
enables protein serine/threonine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein serine/threonine kinase activity	ISO Inferred from Sequence Orthology more info
enables protein tyrosine kinase activity	ISO Inferred from Sequence Orthology more info
enables tau protein binding	ISO Inferred from Sequence Orthology more info
enables tau-protein kinase activity	ISO Inferred from Sequence Orthology more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in learning or memory	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein binding	ISO Inferred from Sequence Orthology more info
involved_in peptidyl-serine phosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in peptidyl-serine phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in peptidyl-serine phosphorylation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in peptidyl-threonine phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in peptidyl-threonine phosphorylation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in peptidyl-tyrosine phosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in peptidyl-tyrosine phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in peptidyl-tyrosine phosphorylation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
acts_upstream_of_or_within phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cyclin-dependent protein kinase activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cysteine-type endopeptidase activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of microglial cell activation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein polymerization	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein polymerization	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in protein phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: tau-tubulin kinase 1

NP_001156336.1

EC 2.7.11.1

XP_006523508.1

EC 2.7.11.1

XP_036016144.1

EC 2.7.11.1

XP_036016145.1

EC 2.7.11.1

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.

mRNA and Protein(s)

NM_001162864.2 → NP_001156336.1 tau-tubulin kinase 1

See identical proteins and their annotated locations for NP_001156336.1

Status: VALIDATED

Source sequence(s)

AC151275

Consensus CDS

CCDS50125.1

UniProtKB/Swiss-Prot

Q6PCN3

Related

ENSMUSP00000044580.8, ENSMUST00000047034.9

Conserved Domains (2) summary

PHA03307
Location:963 → 1305

PHA03307; transcriptional regulator ICP4; Provisional

cd14130
Location:33 → 294

STKc_TTBK1; Catalytic domain of the Serine/Threonine protein kinase, Tau-Tubulin Kinase 1

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000083.7 Reference GRCm39 C57BL/6J

Range

46751577..46798596 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036160251.1 → XP_036016144.1 tau-tubulin kinase 1 isoform X1

UniProtKB/Swiss-Prot

Q6PCN3

Conserved Domains (2) summary

PHA03307
Location:963 → 1305

PHA03307; transcriptional regulator ICP4; Provisional

cd14130
Location:33 → 294

STKc_TTBK1; Catalytic domain of the Serine/Threonine protein kinase, Tau-Tubulin Kinase 1
XM_036160252.1 → XP_036016145.1 tau-tubulin kinase 1 isoform X2

Conserved Domains (2) summary

PHA03307
Location:912 → 1254

PHA03307; transcriptional regulator ICP4; Provisional

cl21453
Location:1 → 243

PKc_like; Protein Kinases, catalytic domain
XM_006523445.3 → XP_006523508.1 tau-tubulin kinase 1 isoform X3

UniProtKB/TrEMBL

A0A286YDE4

Related

ENSMUSP00000153386.2, ENSMUST00000225808.2

Conserved Domains (2) summary

PHA03307
Location:314 → 686

PHA03307; transcriptional regulator ICP4; Provisional

cl21453
Location:33 → 294

PKc_like; Protein Kinases, catalytic domain