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FLASH GENE
Symbol GTF2H5 contributors: mct - updated : 26-01-2022
HGNC name general transcription factor IIH, polypeptide 5
HGNC id 21157
Corresponding disease
TTDA trichothiodystrophy group A
Location 6q25.3      Physical location : 158.589.378 - 158.620.366
Synonym name
  • chromosome 6 open reading frame 175
  • TFIIH basal transcription factor complex TTDA subunit
  • general transcription factor IIH polypeptide 5
  • DNA repair syndrome trichothiodystrophy group A
    • Synonym symbol(s) FLJ30544, bA120J8.2, TFIIH, TGF2H5, TTD, TF2H, C6orf175, TFB5, TTD-A, TTD3, TTDA, p8
    EC.number TFB5, C6orf175, TFIIH, TGF2H5, TTD, TTD-A, TTD3,
    DNA
    TYPE functioning gene
    STRUCTURE 30.99 kb     2 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 7503 8 71 - 2007 17350038
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately
     vessel   lowly
    Endocrineadrenal gland   highly
    Reproductivemale systemprostate  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    cell cycle     cell cycle
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to murine Gtf2h5
    intraspecies homolog to yeast TFB5
    Homologene
    FAMILY TFB5 family
    CATEGORY transcription factor , antigen
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • plays a role in nucleotide excision repair
  • regulating expression of TF2H
  • involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II
  • appeared important for the stabilization of the entire TFIIH complex
  • essential for Nucleotide excision repair (NER), appeared to be required also for embryonic development, indicative for the big impact this small protein has on basal biological processes
  • is a multisubunit complex essential for both transcription by RNA polymerase II and nucleotide excision repair
    • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component component of polymerase II preinitiation complexes
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with the GTF2H4 and the GTF2H4-GTF2H5-GFP product is incorporated into TFIIH
  • recruits XPA through its first 15 amino acids
  • is an upstream regulator of TP53-mediated apoptosis and acts as an oncogene, suggesting its value as a potential molecular target for the diagnosis and treatment of glioma
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) TTDA
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    inhibited apoptosis of glioma cells and promoted cell growth
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS