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FLASH GENE
Symbol GTF2IRD1 contributors: mct/npt - updated : 18-01-2018
HGNC name GTF2I repeat domain containing 1
HGNC id 4661
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • multiple helix-loop-helix domains
  • an N-terminal leucine zipper motif (helix-loop-helix domain 4 is necessary and sufficient for binding the bicoid-like motif) (Vullhorst 2003)
  • five GTF2I-like repeats
  • secondary structure a potential helix-loop-helix (MLM) motif in each GTF2I like repeat
    HOMOLOGY
    interspecies ortholog to murine Ben (binding factor for early enhancer)
    homolog to rattus Gtf2ird1
    intraspecies homolog to GTF2I,highly and tightly linked
    Homologene
    FAMILY
  • TFII-I family
  • GTF2I gene family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • functioning as a transcription factor or as a positive transcriptional regulator under the control of retinoblastoma protein
  • having essential functions in embryonic development(Enkhmandakh 2009)
  • playing a role in visuospatial deficit of WBS
  • involved in the craniofacial development
  • complex scaffolding protein that act as critical regulators coordinating the activity of multiple transcription factors, histone deacetylases, and signaling molecules
  • encodes a mobile-element-derived fusion protein that antagonizes the action of its related family members
  • importance of GTF2IRD1 in maintaining M cone cell identity and function as well as rod function
  • likely an important role for GTF2IRD1 in regulating the level and topology of rod and cone gene expression, and in maintaining normal retinal function
  • its nuclear localization pattern and interaction partners of GTF2IRD1 demonstrate a role in chromatin regulation
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
  • binding to enhancer element of gene encoding troponin
  • binding to a regulatory motif (GUCE-GTF2IRD1 Upstream Control Element) of HOXC8, GSC and troponin I(slow)
  • RNA
    small molecule
    protein
  • MLM protein
  • binds DNA in a sequence-specific manner (Palmer 2010)
  • is essential for MKX transcription, while also linking mechanical forces to MKX-mediated tendon homeostasis and regeneration
  • cell & other
    REGULATION
    Other regulated by negative autoregulatory mechanism that controls the level of GTF2IRD1 transcription via direct binding of the GTF2IRD1 protein to a highly conserved region of the GTF2IRD1 promoter containing an array of three binding sites (Palmer 2010)
    ASSOCIATED DISORDERS
    corresponding disease(s) WBS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    significantly reduced in fibroblasts from WBS patients (Palmer 2010)
    tumoral     --over  
    in human breast tumors, correlating with high tumor grades and poor prognosis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Gtf2ird1-null mice also demonstrate abnormal M cone and rod electrophysiological responses
  • Gtf2ird1 null mice showed higher auditory thresholds (hypoacusis) in both auditory brainstem response (ABR) and the distortion product of otoacoustic emissions (DPOAE) hearing assessments