GTF2H5

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

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
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6q25.3 Start 158,168,350 bp[1] End 158,199,344 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17 A1|17 3.7 cM Start 6,079,786 bp[2] End 6,086,517 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • rDNA binding • GO:0001948 protein binding Cellular component • nucleoplasm • nucleolus • GO:0000441 core TFIIH complex • cell nucleus • transcription factor TFIID complex • holo TFIIH 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 from RNA polymerase II promoter • 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
Species	Human	Mouse
Entrez	404672	66467
Ensembl	ENSG00000272047	ENSMUSG00000034345
UniProt	Q6ZYL4	Q8K2X8
RefSeq (mRNA)	NM_207118	NM_181392 NM_001357804
RefSeq (protein)	NP_997001	NP_852057 NP_001344733
Location (UCSC)	Chr 6: 158.17 – 158.2 Mb	Chr 17: 6.08 – 6.09 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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

1. GRCh38: Ensembl release 89: ENSG00000272047 - Ensembl, May 2017
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.
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.
6. "Entrez Gene: GTF2H5 general transcription factor IIH, polypeptide 5".
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.
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.

Further reading

• 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.