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Symbol GTF2IRD1 contributors: mct/npt - updated : 18-01-2018
HGNC name GTF2I repeat domain containing 1
HGNC id 4661
Corresponding disease
WBS Williams Beuren syndrome
Location 7q11.23      Physical location : 73.868.119 - 74.016.910
Synonym name
  • Williams-Beuren syndrome critical region, expressed sequence 11
  • general transcription factor III
  • muscle TFII-I repeat domain-containing protein 1
  • slow-muscle-fiber enhancer-binding protein
  • USE B1-binding protein
  • binding factor for early enhancer
  • Synonym symbol(s) WBSCR11, MUSTRD1, GTF3, CREAM1, WBSCR12, RBAP2, BEN, MusTRD1/BEN, WBSCR12, hMusTRD1alpha1
    TYPE functioning gene
    STRUCTURE 149.28 kb     27 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - ELN - LIMK1 - WBSCR1 - RFC2 - CYLN2 - GTF2IRD1 - GTF2I - qter
    Authors Durkin (01)
    Text see WBSCR14
    Physical map
    FKBP6 7q11.23 FK506 binding protein 6, 36kDa FZD9 7q11.23 frizzled homolog 9 (Drosophila) BAZ1B 7q11.23 bromodomain adjacent to zinc finger domain, 1B BCL7B 7q11.23 B-cell CLL/lymphoma 7B TBL2 7q11.23 transducin (beta)-like 2 WBSCR14 7q11.23 Williams Beuren syndrome chromosome region 14 WBSCR24 7q11.23 Williams Beuren syndrome chromosome region 24 STX1A 7q11.23 syntaxin 1A (brain) WBSCR18 7q11.23 Williams Beuren syndrome chromosome region 18 WBSCR22 7q11.23 Williams Beuren syndrome chromosome region 22 WBSCR21 7q11.23 Williams Beuren syndrome chromosome region 21 CLDN3 7q11.23 claudin 3 CLDN4 7q11.23 claudin 4 WBSCR27 7q11.23 claudin 4 WBSCR28 7q11.23 Williams-Beuren syndrome critical region 28 ELN 7q11.23 elastin (supravalvular aortic stenosis, Williams-Beuren syndrome) LIMK1 7q11.23 LIM domain kinase 1 WBSCR1 7q11.23 Williams-Beuren syndrome chromosome region 1 WBSCR5 7q11.23 Williams-Beuren syndrome chromosome region 5 RFC2 7q11.23 replication factor C (activator 1) 2, 40kDa CYLN2 7q11.23 cytoplasmic linker 2 GTF2IRD1 7q11.23 GTF2I repeat domain containing 1 LOC389521 7 LOC389521 WBSCR23 7q11.23 Williams-Beuren syndrome chromosome region 23 GTF2I 7q11.23 general transcription factor II, i GTF2IRD2 7q11.23 transcription factor GTF2IRD2 LOC389522 7 similar to Cohesin subunit SA-3 (Stromal antigen 3) (SCC3 homolog 3) PMS2L5 7q11-q22 postmeiotic segregation increased 2-like 5 LOC389523 7 similar to opposite strand transcription unit to Stag3; Gats protein WBSCR16 7q11.23 Williams-Beuren syndrome chromosome region 16 LOC389524 7 similar to transcription factor GTF2IRD2 NCF1 7q11.23 neutrophil cytosolic factor 1 (47kDa, chronic granulomatous disease, autosomal 1)
    regionally located located in the WBSCR for WBS1
    TRANSCRIPTS type messenger
    text may be a third alternative transcript coding for a protein made of 895 aa
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    27 - 3446 106.1 959 - 2015 26275350
    27 splicing 3078 - 944 - 2015 26275350
    lack 45nt fragment
    27 - 3522 - 976 - 2015 26275350
    Type widely
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineparathyroid   highly
    Hearing/Equilibriumearinnercochlea   Homo sapiens
    Reproductivefemale systemuteruscervix highly
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    SystemCellPubmedSpeciesStageRna symbol
    cell lineage
    cell lines
    at STAGE
    physiological period embryo, fetal, pregnancy
    Text skeletal muscle, more than in adult, in the epithelial buds
  • 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
    interspecies ortholog to murine Ben (binding factor for early enhancer)
    homolog to rattus Gtf2ird1
    intraspecies homolog to GTF2I,highly and tightly linked
  • TFII-I family
  • GTF2I gene family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    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
    a component
  • 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
  • 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
    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)
    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
    Variant & Polymorphism
    Candidate gene
    Therapy target
  • 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