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; 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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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]