GTF2H5

Also known as C6orf175, TFB5, TFIIH, TGF2H5, TTD, TTD-A, TTDA, bA120J8.2

General transcription factor IIH subunit 5 is a protein that in humans is encoded by the GTF2H5 gene. ==Function==

Gene data

GTF2H5

Name: general transcription factor IIH subunit 5
Type: protein-coding
Position: 158,167,749–158,199,344 (+)
Aliases: C6orf175, TFB5, TFIIH, TGF2H5, TTD, TTD-A, TTD3, TTDA, bA120J8.2
Ensembl: ENSG00000272047
RefSeq RNA: NM_207118.3
RefSeq protein: NP_997001.1

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].

Gene Ontology

Biological process

nucleotide-excision repair nucleotide-excision repair nucleotide-excision repair nucleotide-excision repair, preincision complex assembly transcription by RNA polymerase II transcription initiation at RNA polymerase II promoter transcription initiation at RNA polymerase II promoter

Molecular function

protein binding

Cellular component

transcription factor TFIIH core complex transcription factor TFIIH core complex nucleus nucleus nucleoplasm transcription factor TFIID complex transcription factor TFIIH holo complex transcription factor TFIIH holo complex

Pathways

Basal transcription factors - Homo sapiens (human)Nucleotide excision repair - Homo sapiens (human)Formation of RNA Pol II elongation complex Formation of the Early Elongation Complex HIV Life Cycle Late Phase of HIV Life Cycle HIV Infection Disease Formation of HIV elongation complex in the absence of HIV Tat Formation of the HIV-1 Early Elongation Complex

via MyGene.info

Gene · Ensembl

general transcription factor IIH subunit 5

Symbol: GTF2H5
Biotype: Protein coding
Organism: Homo sapiens
Location: 6:158,167,749-158,199,344
Strand: Forward (+)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

~1 min read

Encyclopedic overview

4 sections

Contents

Function
Interactions
References
Further reading

General transcription factor IIH subunit 5 is a protein that in humans is encoded by the GTF2H5 gene. ==Function==

The GTF2H5(TTDA) gene encodes a small (71 amino acid) protein that stabilizes the multi-subunit transcription repair factor IIH(TFIIH). TFIIH plays a key role in a major DNA repair process, nucleotide excision repair (NER), by opening the DNA double helix after the initial recognition of damage in one strand. This step is followed by excision of the damaged region to generate a single-strand gap, and then repair synthesis, using the undamaged strand as template, to accurately fill in the gap. Disruption of the GTF2H5(TTDA) gene in a knockout mouse-model completely inactivates NER. In humans, mutation in any one of four genes can give rise to the trichothiodystrophy phenotype. These genes are TTDN1, XPB, XPD and GTF2H5(TTDA).

Excerpted from Wikipedia’s “GTF2H5” article, available under the CC BY-SA 4.0 licence.