GTF2H5 general transcription factor IIH subunit 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GTF2H5provided by HGNC
Official Full Name: general transcription factor IIH subunit 5provided by HGNC
Primary source: HGNC:HGNC:21157
See related: Ensembl:ENSG00000272047 MIM:608780; AllianceGenome:HGNC:21157
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: TTD; TFB5; TTD3; TTDA; TFIIH; TTD-A; TGF2H5; C6orf175; bA120J8.2
Summary: This gene encodes a subunit of transcription/repair factor TFIIH, which functions in gene transcription and DNA repair. This protein stimulates ERCC3/XPB ATPase activity to trigger DNA opening during DNA repair, and is implicated in regulating cellular levels of TFIIH. Mutations in this gene result in trichothiodystrophy, complementation group A. [provided by RefSeq, Mar 2009]
Expression: Ubiquitous expression in brain (RPKM 4.4), fat (RPKM 3.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q25.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (158168350..158199344)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (159413734..159444757)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (158589382..158620376)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TTDA inhibited apoptosis by regulating the p53-Bax/Bcl2 axis in glioma.
Title: TTDA inhibited apoptosis by regulating the p53-Bax/Bcl2 axis in glioma.
Low levels of GTF2H5 are associated with enhanced prognosis in high-grade serous ovarian cancer patients and may contribute to cisplatin sensitization.
Title: The NER-related gene GTF2H5 predicts survival in high-grade serous ovarian cancer patients.
Transcriptional differences found between various TFIIH subunit variants participate in the phenotypic variability observed among xeroderma pigmentosum, XP associated with Cockayne syndrome, and trichothiodystrophy individuals.
Title: TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription.
Findings give new insights into the behavior of TTDA within the context of a living cell and thereby shed light on the complex phenotype of TTD-A patients.
Title: In vivo interactions of TTDA mutant proteins within TFIIH.
Observational study of gene-disease association. (HuGE Navigator)
Title: Variation within DNA repair pathway genes and risk of multiple sclerosis.
Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
Title: Comprehensive analysis of DNA repair gene variants and risk of meningioma.
TTDA is the first Transcription Factor IIH subunit with a primarily nucleotide excision repair-dedicated role in vivo.
Title: Dynamic interaction of TTDA with TFIIH is stabilized by nucleotide excision repair in living cells.
The solution structure of the p8/TTD-A protein, a small alpha/beta protein built around an antiparallel beta-sheet that forms a homodimer with an extended interface, is reported.
Title: Solution structure and self-association properties of the p8 TFIIH subunit responsible for trichothiodystrophy.
p8/TTD-A, the tenth subunit of TFIIH, has a critical role in DNA repair where it triggers DNA opening by stimulating XPB ATPase activity together with the damage recognition factor XPC-hHR23B.
Title: p8/TTD-A as a repair-specific TFIIH subunit.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Trichothiodystrophy 3, photosensitive MedGen: C4017171 OMIM: 616395 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of smoking behaviours among Bangladeshi adults. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH102955 (e-PCR)
- UniSTS:97289

D6S220 (e-PCR)
- UniSTS:146988

D8S2279 (e-PCR)
- UniSTS:473907

G17032 (e-PCR)
- UniSTS:14415

SHGC-67814 (e-PCR)
- UniSTS:92588

L17809 (e-PCR)
- UniSTS:39087

RH48401 (e-PCR)
- UniSTS:55998

WI-11136 (e-PCR)
- UniSTS:56569

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to gamma radiation	IEA Inferred from Electronic Annotation more info
involved_in maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within nucleotide-excision repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nucleotide-excision repair, preincision complex assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in transcription elongation by RNA polymerase I	IEA Inferred from Electronic Annotation more info
involved_in transcription initiation at RNA polymerase II promoter	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of transcription factor TFIID complex	IDA Inferred from Direct Assay more info	PubMed
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

General protein information

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Preferred Names: general transcription factor IIH subunit 5

Names: TFB5 ortholog; TFIIH basal transcription factor complex TTD-A subunit; TFIIH basal transcription factor complex TTDA subunit; TFIIH subunit p8; general transcription factor IIH, polypeptide 5

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.