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)[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 6,130,061 bp[2] End 6,136,792 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 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: 6.13 – 6.14 Mb PubMed search [3] [4]
Wikidata
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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

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.