Protein-coding gene in the species Homo sapiens
GTF2H5 |
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Identifiers |
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Aliases | GTF2H5, C6orf175, TFB5, TFIIH, TGF2H5, TTD, TTD-A, TTDA, bA120J8.2, TTD3, general transcription factor IIH subunit 5 |
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External IDs | OMIM: 608780 MGI: 107227 HomoloGene: 45635 GeneCards: GTF2H5 |
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Gene ontology |
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Molecular function | | Cellular component | | 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 |
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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]