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GTF2H5 Component of the TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Necessary for the stability of the TFIIH complex and for the presence of normal levels of TFIIH in the cell. Defects in GTF2H5 are a cause of trichothiodystrophy photosensitive (TTDP). TTDP is an autosomal recessive disease characterized by sulfur-deficient brittle hair and nails, ichthyosis, mental retardation, impaired sexual development, abnormal facies and cutaneous photosensitivity correlated with a nucleotide excision repair (NER) defect. Neonates with trichothiodystrophy and ichthyosis are usually born with a collodion membrane. The severity of the ichthyosis after the membrane is shed is variable, ranging from a mild to severe lamellar ichthyotic phenotype. There are no reports of skin cancer associated with TTDP. Belongs to the TFB5 family. Note: This description may include information from UniProtKB.
Protein type: DNA repair, damage; DNA-binding
Chromosomal Location of Human Ortholog: 6q25.3
Cellular Component: nucleolus; nucleoplasm; transcription factor TFIID complex
Molecular Function: protein binding; rDNA binding
Biological Process: 7-methylguanosine mRNA capping; nucleotide-excision repair; nucleotide-excision repair, DNA duplex unwinding; nucleotide-excision repair, DNA incision; nucleotide-excision repair, DNA incision, 3'-to lesion; nucleotide-excision repair, DNA incision, 5'-to lesion; nucleotide-excision repair, preincision complex assembly; nucleotide-excision repair, preincision complex stabilization; regulation of transcription, DNA-templated; RNA elongation from RNA polymerase I promoter; rRNA processing; termination of RNA polymerase I transcription; transcription elongation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase I promoter; transcription initiation from RNA polymerase II promoter; transcription-coupled nucleotide-excision repair
Disease: Trichothiodystrophy 3, Photosensitive
Reference #:  Q6ZYL4 (UniProtKB)
Alt. Names/Synonyms: bA120J8.2; C6orf175; General transcription factor IIH polypeptide 5; General transcription factor IIH subunit 5; general transcription factor IIH, polypeptide 5; GTF2H5; TF2H5; TFB5; TFB5 ortholog; TFIIH basal transcription factor complex TTD-A subunit; TFIIH basal transcription factor complex TTDA subunit; TGF2H5; TTD; TTD-A; TTDA
Gene Symbols: GTF2H5
Molecular weight: 8,053 Da
Basal Isoelectric point: 4.5  Predict pI for various phosphorylation states
CST Pathways:  Protein Acetylation
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Protein Structure Not Found.
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