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FLASH GENE
Symbol GTF2H1 contributors: mct - updated : 07-03-2016
HGNC name general transcription factor IIH, polypeptide 1, 62kDa
HGNC id 4655
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a C terminal kinase activity domain
    • conjugated PhosphoP
    HOMOLOGY
    interspecies homolog to yeast S.cerevisiae Tfb1
    homolog to murine Gtf2h1
    Homologene
    FAMILY
    CATEGORY enzyme , regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • having kinase activity (phosphorylation of CDC2 and CDK2)
  • playing a role in RNA polymerase 1 mediated transcription
  • GTF2H1 phosphorylation might participate to the transactivation by regulating the nuclear receptors turnover
    • CELLULAR PROCESS nucleotide, repair, nucleotide excision repair
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the core-TFIIH basal transcription factor (one of the six subunits)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CAK, AR, BRCA1, EBNA2, RAD52
  • is recruited to the transcription preinitiation complex through an interaction between its p62/Tfb1 subunit and the alpha-subunit of GTF2E1
  • GTF2E1 and TP53 share the binding region on GTF2H1
  • via its CDK7 kinase, phosphorylates the androgen receptor (AR) at position AR/S515
  • KLF1 through EKLFTAD2 binds the N-terminal PH domain of the GTF2H1 and four domains of EP300
  • TAF7 interacts with and regulates the enzymatic activities of other transcription factors, including CDK9, GTF2H1, and CIITA, ensuring an orderly progression in transcription initiation
  • through its acidic transactivation domain (TAD), RELA has the capacity to form interactions with several different transcriptional regulatory proteins, including GTF2B, GTF2H1, EP300 and TAF9B
  • tight connection between GTFIIH1 and KAT2A that controls higher-order chromatin structure and gene expression
    • cell & other
    REGULATION
    repressed by phosphorylation (of both the ability of TFIIH to activate transcription and its C terminal kinase activity)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in trichothiodystrophy
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS