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FLASH GENE
Symbol GTF2I contributors: shn/npt/pgu - updated : 28-06-2018
HGNC name general transcription factor IIi
HGNC id 4659
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • leucine zipper
  • six copies of a potential helix-loop-helix (HLH) repeat motif
  • segment between I-repeats 1 and 2 contains:
    • - nuclear localization signal (NLS)
    - two tyrosine phosphorylation sites
    - a consensus MAP kinase interaction domain (D box)
    - a polyproline II domain
    conjugated PhosphoP
    mono polymer homomer , heteromer , dimer
    HOMOLOGY
    interspecies ortholog to GTF2I, Pan troglodytes
    ortholog to Gtf2i, Rattus norvegicus
    ortholog to Gtf2i, Mus musculus
    intraspecies paralog to GTF2IRD1
    Homologene
    FAMILY
  • TFII-I family transcription factors
  • LDLR family
    • CATEGORY immunity/defense , regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • involved in the mental retardation of Williams-Beuren syndrome
  • multifunctional phosphoprotein with roles in transcription and signal transduction
  • inhibitor of agonist-induced calcium entry
  • playing a role in the visuospatial deficit in WBS
  • having essential functions in embryonic development
  • plays an inhibitory role in regulating genes that are essential in osteogenesis and intersects with the bone-specific transcription factor RUNX2 and the retinoblastoma protein RB1
  • act as both a basal transcriptional factor and a transcriptional coactivator through binding to elements within the promoter of a number of genes
    • CELLULAR PROCESS nucleotide, transcription, initiation
    PHYSIOLOGICAL PROCESS development , immunity/defense
    text neuronal development, anti-pathogen response
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • promoting the formation of stable high-order complexes of SRF and PHOX1
  • part of a histone deacetylase complex containing HDAC1, HDAC2, AOF2, RCOR1, ZNF261, ZNF198 and KIAA0182
  • GTF2I, PARP1, and SFPQ proteins, each previously implicated in gene regulation, forms a complex controlling transcription of DYX1C1
    • INTERACTION
    DNA
  • binds independently to two distinct promoter elements, a pyrimidine-rich initiator (Inr) and a recognition site (E-box) for upstream stimulatory factor 1 (USF1)
    • RNA
    small molecule
    protein
  • activating transcription factor 6 (ATF6)
  • HDAC1,2 and BHC110, an FAD-binding protein complex
  • Histone deacetylase 3 (HDAC3)
  • extracellular signal-related kinase (ERK)
  • proto-oncoprotein Myc
  • RING-like zinc finger containing Miz1/PIASxbeta/Siz2
  • cGMP-dependent protein kinase I (G-kinase I)
  • c-fos upstream activators SRF, STAT1, and STAT3
  • upstream stimulatory factor 1 (USF1)
  • Bruton's tyrosine kinase (Btk)
  • a negative regulator of agonist-induced calcium entry (ACE)
  • ARID3A transiently interacts with sumoylation enzymes, blocks calcium flux and phosphorylation of BTK and GTF2II and is then discharged from lipid rafts as a Sumo-I-modified form
  • CFDP1, Sec23 homolog A (SEC23A), and nuclear receptor binding SET domain protein 1 (NSD1), contain consensus GTF2I binding sites in their proximal promoters
    • cell & other
    REGULATION
    activated by
  • Janus kinase 2 (JAK2)
    • repressed by
  • hMusTRD1/BEN
    • Other
  • phosphorylated on tyrosine residues by BTK in response to B cell receptor cross linking
  • ERK regulates the activity of TFII-I by direct phosphorylation
  • modulated by the Rho inhibitor, p190RhoGAP (also known as GRLF1) during capillary network formation in human microvascular endothelial cells and retinal angiogenesis
    • ASSOCIATED DISORDERS
    corresponding disease(s) WBS , DUP7Q11
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --other  
    haploinsufficiency is associated with the characteristic craniofacial and neurodevelopmental pathologies of WBS
    Susceptibility to separation anxiety
    Variant & Polymorphism other association between a major anxiety disorder and change in copy number of a single gene provides a starting point for understanding the molecular basis of anxiety
    Candidate gene increase in social interaction
    separation anxiety in humans and mice
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    heterozygous deletion in the Gtf2i gene in mice exhibits craniofacial and general osteogenic defects