GTF2H5

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GTF2H5
Protein GTF2H5 PDB 1ydl.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases GTF2H5, C6orf175, TFB5, TFIIH, TGF2H5, TTD, TTD-A, TTDA, bA120J8.2, TTD3, general transcription factor IIH subunit 5
External IDs MGI: 107227 HomoloGene: 45635 GeneCards: GTF2H5
RNA expression pattern
PBB GE GTF2H5 213357 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_207118

NM_181392

RefSeq (protein)

NP_997001

NP_852057.2
NP_852057

Location (UCSC) Chr 6: 158.17 – 158.2 Mb Chr 17: 6.08 – 6.09 Mb
PubMed search [1] [2]
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.[3][4]

Function[edit]

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.[5] 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).[5]

Interactions[edit]

GTF2H5 has been shown to interact with GTF2H2[3][6] and XPB.[3]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ "Entrez Gene: GTF2H5 general transcription factor IIH, polypeptide 5". 
  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. 
  6. ^ 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. 

Further reading[edit]