Alternative titles; symbols
HGNC Approved Gene Symbol: GTF2H4
Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38): 6:30,908,207-30,914,106 (from NCBI)
Transcription factor IIH (TFIIH; see 189972) is associated with the RNA polymerase II transcription complex, which is involved in transcription and transcription-mediated DNA repair. Marinoni et al. (1997) reported the identification, cDNA cloning, and structure of the 52-kD subunit (p52) of human TFIIH. The deduced 462-amino acid TFIIH p52 polypeptide shares 37% identity and 61% similarity with the S. cerevisiae TFB2 gene product, a subunit of yeast TFIIH.
Marinoni et al. (1997) demonstrated that the GTF2H4 gene contains 13 coding exons spread across 7 kb of genomic DNA.
By fluorescence in situ hybridization, Marinoni et al. (1997) mapped the GTF2H4 gene to chromosome 6p21.3.
Using an in vitro transcription/nucleotide excision repair (NER) assay system and antibody microinjection experiments, Marinoni et al. (1997) demonstrated that TFIIH p52 is directly involved in both transcription and DNA repair mechanisms in vitro and in vivo.
Coin et al. (2007) found that TFIIH p52 interacts with XPB (ERCC3; 133510) and that the interaction stimulates the ATPase activity of XPB, suggesting that p52 is a regulatory protein and not simply a structural subunit.
Coin, F., Oksenych, V., Egly, J.-M. Distinct roles for the XPB/p52 and XPD/p44 subcomplexes of TFIIH in damaged DNA opening during nucleotide excision repair. Molec. Cell 26: 245-256, 2007. [PubMed: 17466626] [Full Text: https://doi.org/10.1016/j.molcel.2007.03.009]
Marinoni, J.-C., Roy, R., Vermeulen, W., Miniou, P., Lutz, Y., Weeda, G., Seroz, T., Gomez, D. M., Hoeijmakers, J. H. J., Egly, J.-M. Cloning and characterization of p52, the fifth subunit of the core of the transcription/DNA repair factor TFIIH. EMBO J. 16: 1093-1102, 1997. [PubMed: 9118947] [Full Text: https://doi.org/10.1093/emboj/16.5.1093]