GTF2H5

we performed GTF2H5 immunohistochemical staining in 139 high-grade serous ovarian carcinomas included in tissue microarrays.

Full Name

general transcription factor IIH, polypeptide 5

Function

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. Necessary for the stability of the TFIIH complex and for the presence of normal levels of TFIIH in the cell.

Biological Process

Cellular response to gamma radiation Source: Ensembl
Maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) Source: Ensembl
Nucleotide-excision repair Source: MGI
Nucleotide-excision repair, preincision complex assembly Source: GO_Central
Phosphorylation of RNA polymerase II C-terminal domain Source: GO_Central
Transcription by RNA polymerase II Source: GO_Central
Transcription elongation from RNA polymerase I promoter Source: Ensembl
Transcription initiation from RNA polymerase II promoter Source: InterPro

Cellular Location

Nucleus; Cytoplasm

Involvement in disease

Trichothiodystrophy 3, photosensitive (TTD3):
A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder.