Aliases for GTF2H1 Gene
External Ids for GTF2H1 Gene
Previous GeneCards Identifiers for GTF2H1 Gene
GeneCards Summary for GTF2H1 Gene
GTF2H1 (General Transcription Factor IIH Subunit 1) is a Protein Coding gene. Diseases associated with GTF2H1 include Rift Valley Fever and Hermansky-Pudlak Syndrome 5. Among its related pathways are RNA Polymerase I Promoter Escape and Tat-mediated elongation of the HIV-1 transcript. Gene Ontology (GO) annotations related to this gene include protein kinase activity and RNA polymerase II CTD heptapeptide repeat kinase activity.
UniProtKB/Swiss-Prot Summary for GTF2H1 Gene
Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription.