Gtf2h3 general transcription factor IIH, polypeptide 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gtf2h3provided by MGI
Official Full Name: general transcription factor IIH, polypeptide 3provided by MGI
Primary source: MGI:MGI:1277143
See related: Ensembl:ENSMUSG00000029387 AllianceGenome:MGI:1277143
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: BTF2; 34kDa; TFIIH; BTF2 p34; C730029A10; D5Ertd679e; 5033417D07Rik
Summary: Predicted to enable RNA polymerase II general transcription initiation factor activity. Predicted to be involved in nucleotide-excision repair and transcription by RNA polymerase II. Predicted to be located in nucleoplasm. Predicted to be part of core TFIIH complex portion of holo TFIIH complex; transcription factor TFIID complex; and transcription preinitiation complex. Is expressed in several structures, including blastocyst; genitourinary system; and submandibular gland primordium. Orthologous to human GTF2H3 (general transcription factor IIH subunit 3). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 13.8), limb E14.5 (RPKM 12.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 F; 5 63.67 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (124717211..124735743)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (124579148..124597680)

Chromosome 5 - NC_000071.7 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?

Using quantitative imaging of TFIIH in living mouse cells, we found that these molecules reduce the intracellular concentration of TFIIH and its transcriptional activity to levels similar to that observed in individuals with trichothiodystrophy owing to mutated TTD-A
Title: Small molecule-based targeting of TTD-A dimerization to control TFIIH transcriptional activity represents a potential strategy for anticancer therapy.
extensive molecular analyses unveiled that wild-type TFIIH cooperated in an ATP-dependent manner with PGC1-alpha as well as with the deacetylase SIRT1, thereby contributing to the PGC1-a deacetylation by SIRT1
Title: Dynamic partnership between TFIIH, PGC-1α and SIRT1 is impaired in trichothiodystrophy.
Mutations in TFIIH causing trichothiodystrophy are responsible for defects in ribosomal RNA production and processing.
Title: Mutations in TFIIH causing trichothiodystrophy are responsible for defects in ribosomal RNA production and processing.
Data show that that B2 RNA, when present with Pol II in promoter-bound complexes, specifically represses CTD phosphorylation by TFIIH.
Title: B2 RNA represses TFIIH phosphorylation of RNA polymerase II.
Molecular analyses performed on the mice brain tissue demonstrate that TFIIH is required for the stabilization of thyroid hormone receptors (TR) to their DNA-responsive elements.
Title: Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH.

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Variation

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Alleles

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

Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW742247 (e-PCR)
- UniSTS:207877

AU015568 (e-PCR)
- UniSTS:167460

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables RNA polymerase II general transcription initiation factor activity	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II general transcription initiation factor activity	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in nucleotide-excision repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in nucleotide-excision repair	IEA Inferred from Electronic Annotation more info
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of core TFIIH complex portion of holo TFIIH complex	ISO Inferred from Sequence Orthology more info
part_of core TFIIH complex portion of holo TFIIH complex	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
part_of transcription factor TFIID complex	IEA Inferred from Electronic Annotation more info
part_of transcription factor TFIID complex	ISO Inferred from Sequence Orthology more info
part_of transcription factor TFIIH core complex	IBA Inferred from Biological aspect of Ancestor more info
part_of transcription factor TFIIH holo complex	IBA Inferred from Biological aspect of Ancestor more info
part_of transcription factor TFIIH holo complex	ISO Inferred from Sequence Orthology more info
part_of transcription factor TFIIH holo complex	ISS Inferred from Sequence or Structural Similarity more info
part_of transcription preinitiation complex	IEA Inferred from Electronic Annotation more info
part_of transcription preinitiation complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: general transcription factor IIH subunit 3

Names: BTF2-p34; TFIIH basal transcription factor complex p34 subunit; basic transcription factor 2 34 kDa subunit; general transcription factor IIH, polypeptide 3, 34kDa

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.