Tbp TATA box binding protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tbpprovided by MGI
Official Full Name: TATA box binding proteinprovided by MGI
Primary source: MGI:MGI:101838
See related: Ensembl:ENSMUSG00000014767 AllianceGenome:MGI:101838
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: Gtf2d; SCA17; TFIID; GTF2D1
Summary: Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and RNA polymerase II-specific DNA-binding transcription factor binding activity. Acts upstream of or within transcription by RNA polymerase II and transcription by RNA polymerase III. Located in cytoplasm; female pronucleus; and male pronucleus. Is expressed in several structures, including brain; early conceptus; genitourinary system; gut; and retina. Used to study spinocerebellar ataxia type 17. Human ortholog(s) of this gene implicated in late onset Parkinson's disease; schizophrenia; spinocerebellar ataxia type 17; and type 1 diabetes mellitus. Orthologous to human TBP (TATA-box binding protein). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis adult (RPKM 40.6), CNS E14 (RPKM 17.0) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 A2; 17 8.95 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (15720150..15737689)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (15499888..15517427)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

RNA Polymerase II transcription independent of TBP in murine embryonic stem cells.
Title: RNA Polymerase II transcription independent of TBP in murine embryonic stem cells.
The Pol II preinitiation complex (PIC) influences Mediator binding but not promoter-enhancer looping.
Title: The Pol II preinitiation complex (PIC) influences Mediator binding but not promoter-enhancer looping.
The findings confirmed that mutant TBP had no significant effect on myogenesis.
Title: Role of Mutant TBP in Regulation of Myogenesis on Muscle Satellite Cells.
TBP promotes the association of RNA Polymerase II with mitotic chromosomes, and facilitates transcriptional reactivation following mitosis.
Title: A stable mode of bookmarking by TBP recruits RNA polymerase II to mitotic chromosomes.
the TAF10-containing canonical TFIID and SAGA complexes are dispensable for early paraxial mesoderm development, arguing against the generic role in transcription proposed for these fully assembled holo-complexes
Title: The TAF10-containing TFIID and SAGA transcriptional complexes are dispensable for early somitogenesis in the mouse embryo.
Our study establishes glial dysfunction as an important component of SCA17 pathogenesis and suggests targeting glial inflammation as a potential therapeutic approach for SCA17 treatment.
Title: Synergistic Toxicity of Polyglutamine-Expanded TATA-Binding Protein in Glia and Neuronal Cells: Therapeutic Implications for Spinocerebellar Ataxia 17.
This evidence demonstrates that TBP2 does not replace TBP during muscle differentiation, as previously proposed, with limiting amounts of TFIID-TBP being required to promote muscle-specific gene expression
Title: TBP/TFIID-dependent activation of MyoD target genes in skeletal muscle cells.
The large TBP polyQ repeat decreases the association of MyoD with TBP and DNA promoters and causes muscle degeneration in spinocerebellar ataxia 17 transgenic mice.
Title: Large Polyglutamine Repeats Cause Muscle Degeneration in SCA17 Mice.
Thus, modulating the levels of both Huwe1 and USP10 appears to fine-tune the requisite degradation of TBP during myogenesis.
Title: A specific E3 ligase/deubiquitinase pair modulates TBP protein levels during muscle differentiation.
This study demonistrated that denervation-induced muscle atrophy on Tbp expression in mice.
Title: Impact of denervation-induced muscle atrophy on housekeeping gene expression in mice.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Variation

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Alleles

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

Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Tbp (e-PCR), detects polymorphism
- UniSTS:495899

PMC104364P2 (e-PCR)
- UniSTS:270109

Tbp (e-PCR), detects polymorphism
- UniSTS:144547

D17Jcs23 (e-PCR), detects polymorphism
- UniSTS:259271

Tbp (e-PCR), detects polymorphism
- UniSTS:502734

Tbp (e-PCR), detects polymorphism
- UniSTS:256988

AI528543 (e-PCR)
- UniSTS:180964

Tbp (e-PCR), detects polymorphism
- UniSTS:532463

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA binding	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase I core promoter sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II core promoter sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II general transcription initiation factor activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to RNA polymerase II general transcription initiation factor activity	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II general transcription initiation factor activity	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II general transcription initiation factor binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA polymerase III general transcription initiation factor activity	ISO Inferred from Sequence Orthology more info
enables TFIIB-class transcription factor binding	ISO Inferred from Sequence Orthology more info
enables aryl hydrocarbon receptor binding	ISO Inferred from Sequence Orthology more info
enables core promoter sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables enzyme binding	ISO Inferred from Sequence Orthology more info
contributes_to protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription cis-regulatory region binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in DNA-templated transcription initiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in RNA polymerase II preinitiation complex assembly	ISO Inferred from Sequence Orthology more info
involved_in mRNA transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription initiation by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within transcription by RNA polymerase III	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within transcription by RNA polymerase III	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of RNA polymerase I transcription regulator complex	TAS Traceable Author Statement more info	PubMed
part_of RNA polymerase transcription factor SL1 complex	IPI Inferred from Physical Interaction more info	PubMed
part_of RNA polymerase transcription factor SL1 complex	ISO Inferred from Sequence Orthology more info
part_of chromatin	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
part_of euchromatin	ISO Inferred from Sequence Orthology more info
located_in female germ cell nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in female pronucleus	IDA Inferred from Direct Assay more info	PubMed
located_in male germ cell nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in male pronucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IPI Inferred from Physical Interaction more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in pronucleus	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
part_of transcription factor TFIIA complex	ISO Inferred from Sequence Orthology more info
part_of transcription factor TFIID complex	IDA Inferred from Direct Assay more info	PubMed
part_of transcription factor TFIID complex	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: TATA-box-binding protein

Names: TATA sequence-binding protein; TATA-binding factor; TATA-binding protein; TATA-box factor; TFIID core protein; transcription initiation factor TFIID TBP subunit

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_013684.3 → NP_038712.3 TATA-box-binding protein

See identical proteins and their annotated locations for NP_038712.3

Status: VALIDATED

Source sequence(s)

AC154378, AK085037

Consensus CDS

CCDS37454.2

UniProtKB/Swiss-Prot

O09169, P29037, Q80UL8, Q8C3S1

UniProtKB/TrEMBL

Q6RI65

Related

ENSMUSP00000124317.2, ENSMUST00000162505.8

Conserved Domains (2) summary

PLN00062
Location:139 → 315

PLN00062; TATA-box-binding protein; Provisional

cd04516
Location:139 → 312

TBP_eukaryotes; eukaryotic TATA box binding protein (TBP): Present in archaea and eukaryotes, TBPs are transcription factors that recognize promoters and initiate transcription. TBP has been shown to be an essential component of three different transcription initiation ...