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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
Location 11p15.1      Physical location : 18.343.815 - 18.388.590
Synonym name
  • basic transcription factor 2 62 kDa subunit
  • BTF2 p62
  • TFIIH basal transcription factor complex p62 subunit
    • Synonym symbol(s) TF2H, BTF2, P62, TFB1, TFIIH
    DNA
    TYPE functioning gene
    SPECIAL FEATURE overlapping
    STRUCTURE 44.77 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map see MYOD1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 3515 - 548 - 1998 9630526
    15 - 3308 - 548 - 1998 9630526
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemtestis  highly
    Urinarybladder   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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