GTF2H5

GTF2H5
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1YDL, 2JNJ, 5IY8, 5IY6, 5IY7, 5IVW, 5IY9
Identifiers
Aliases	GTF2H5, C6orf175, TFB5, TFIIH, TGF2H5, TTD, TTD-A, TTDA, bA120J8.2, TTD3, general transcription factor IIH subunit 5
External IDs	OMIM: 608780; MGI: 107227; HomoloGene: 45635; GeneCards: GTF2H5; OMA:GTF2H5 - orthologs
Gene location (Human)
Chr.	Chromosome 6 (human)
End	158,199,344 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	6,136,792 bp
RNA expression pattern
	Top expressed in
	renal medulla; ; superior surface of tongue; ; saphenous vein; ; vena cava; ; pericardium; ; trigeminal ganglion; ; mucosa of pharynx; ; pons; ; body of tongue; ; external globus pallidus;
	Top expressed in
	hand; ; endocardial cushion; ; morula; ; otic vesicle; ; otolith organ; ; hair follicle; ; utricle; ; atrioventricular valve; ; medial ganglionic eminence; ; abdominal wall;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	rDNA binding; protein binding;
Cellular component	nucleoplasm; nucleolus; transcription factor TFIIH core complex; nucleus; transcription factor TFIID complex; transcription factor TFIIH holo complex;
Biological process	termination of RNA polymerase I transcription; regulation of transcription, DNA-templated; transcription initiation from RNA polymerase I promoter; transcription elongation from RNA polymerase II promoter; 7-methylguanosine mRNA capping; transcription by RNA polymerase II; transcription, DNA-templated; cellular response to DNA damage stimulus; global genome nucleotide-excision repair; cellular response to gamma radiation; rRNA processing; transcription-coupled nucleotide-excision repair; transcription initiation from RNA polymerase II promoter; nucleotide-excision repair, DNA incision; nucleotide-excision repair, preincision complex assembly; nucleotide-excision repair; nucleotide-excision repair, DNA incision, 5'-to lesion; DNA repair; nucleotide-excision repair, preincision complex stabilization; transcription elongation from RNA polymerase I promoter; phosphorylation of RNA polymerase II C-terminal domain; nucleotide-excision repair, DNA duplex unwinding; nucleotide-excision repair, DNA incision, 3'-to lesion;
	Sources:Amigo / QuickGO
Orthologs
	404672
	66467
	ENSG00000272047
	ENSMUSG00000034345
	Q6ZYL4
	Q8K2X8
	NM_207118
	NM_181392; NM_001357804
	NP_997001
	NP_852057; NP_001344733
	Wikidata
View/Edit Human	View/Edit Mouse

General transcription factor IIH subunit 5 is a protein that in humans is encoded by the GTF2H5 gene.^[5]^[6]

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.^[7] 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).^[7]

Interactions

GTF2H5 has been shown to interact with GTF2H2^[5]^[8] and XPB.^[5]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000272047 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000034345 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b ^c Giglia-Mari G, Coin F, Ranish JA, Hoogstraten D, Theil A, Wijgers N, Jaspers NG, Raams A, Argentini M, van der Spek PJ, Botta E, Stefanini M, Egly JM, Aebersold R, Hoeijmakers JH, Vermeulen W (June 2004). "A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A". Nat. Genet. 36 (7): 714–9. doi:10.1038/ng1387. PMID 15220921.
^ "Entrez Gene: GTF2H5 general transcription factor IIH, polypeptide 5".
^ ^a ^b Theil AF, Hoeijmakers JH, Vermeulen W (2014). "TTDA: big impact of a small protein". Exp. Cell Res. 329 (1): 61–8. doi:10.1016/j.yexcr.2014.07.008. PMID 25016283.
^ Vermeulen W, Bergmann E, Auriol J, Rademakers S, Frit P, Appeldoorn E, Hoeijmakers JH, Egly JM (November 2000). "Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder". Nat. Genet. 26 (3): 307–13. doi:10.1038/81603. PMID 11062469. S2CID 25233797.

Vermeulen W, Bergmann E, Auriol J, Rademakers S, Frit P, Appeldoorn E, Hoeijmakers JH, Egly JM (2000). "Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder". Nat. Genet. 26 (3): 307–13. doi:10.1038/81603. PMID 11062469. S2CID 25233797.
Coin F, Proietti De Santis L, Nardo T, Zlobinskaya O, Stefanini M, Egly JM (2006). "p8/TTD-A as a repair-specific TFIIH subunit". Mol. Cell. 21 (2): 215–26. doi:10.1016/j.molcel.2005.10.024. PMID 16427011.
Giglia-Mari G, Miquel C, Theil AF, Mari PO, Hoogstraten D, Ng JM, Dinant C, Hoeijmakers JH, Vermeulen W (2006). "Dynamic interaction of TTDA with TFIIH is stabilized by nucleotide excision repair in living cells". PLOS Biol. 4 (6): e156. doi:10.1371/journal.pbio.0040156. PMC 1457016. PMID 16669699.
Vitorino M, Coin F, Zlobinskaya O, Atkinson RA, Moras D, Egly JM, Poterszman A, Kieffer B (2007). "Solution structure and self-association properties of the p8 TFIIH subunit responsible for trichothiodystrophy". J. Mol. Biol. 368 (2): 473–80. doi:10.1016/j.jmb.2007.02.020. PMID 17350038.

This article on a gene on human chromosome 6 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000272047 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000034345 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid15220921-5] Giglia-Mari G, Coin F, Ranish JA, Hoogstraten D, Theil A, Wijgers N, Jaspers NG, Raams A, Argentini M, van der Spek PJ, Botta E, Stefanini M, Egly JM, Aebersold R, Hoeijmakers JH, Vermeulen W (June 2004). "A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A". Nat. Genet. 36 (7): 714–9. doi:10.1038/ng1387. PMID 15220921.

[entrez-6] "Entrez Gene: GTF2H5 general transcription factor IIH, polypeptide 5".

[Theil-7] Theil AF, Hoeijmakers JH, Vermeulen W (2014). "TTDA: big impact of a small protein". Exp. Cell Res. 329 (1): 61–8. doi:10.1016/j.yexcr.2014.07.008. PMID 25016283.

[pmid11062469-8] Vermeulen W, Bergmann E, Auriol J, Rademakers S, Frit P, Appeldoorn E, Hoeijmakers JH, Egly JM (November 2000). "Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder". Nat. Genet. 26 (3): 307–13. doi:10.1038/81603. PMID 11062469. S2CID 25233797.

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Function

Interactions

References

Further reading