Gtf2i

Summary

Gene Symbol: Gtf2i
Description: general transcription factor II I
Alias: 6030441I21Rik, BAP-135, Diws1t, GtfII-I, Spin, TFII-I, WBSCR6, general transcription factor II-I, BTK-associated protein 135, Bruton tyrosine kinase-associated protein 135, SRF-Phox1-interacting protein, Williams-Beuren syndrome chromosomal region 6 protein
Species: mouse
Products:     Gtf2i

Top Publications

  1. Wang Y, Perez Jurado L, Francke U. A mouse single-copy gene, Gtf2i, the homolog of human GTF2I, that is duplicated in the Williams-Beuren syndrome deletion region. Genomics. 1998;48:163-70 pubmed
    We have cloned and characterized Gtf2i, the mouse homolog of human GTF2I (general transcription factor II-I), which encodes BAP-135, a target for Bruton's tyrosine kinase...
  2. Li H, Roy M, Kuscuoglu U, Spencer C, Halm B, Harrison K, et al. Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice. EMBO Mol Med. 2009;1:50-65 pubmed publisher
    ..Proximal deletion (PD) mice lack Gtf2i to Limk1, distal deletion (DD) mice lack Limk1 to Fkbp6, and the double heterozygotes (D/P) model the complete ..
  3. Enkhmandakh B, Makeyev A, Erdenechimeg L, Ruddle F, Chimge N, Tussie Luna M, et al. Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development. Proc Natl Acad Sci U S A. 2009;106:181-6 pubmed publisher
    b>GTF2I and GTF2IRD1 encoding the multifunctional transcription factors TFII-I and BEN are clustered at the 7q11.23 region hemizygously deleted in Williams-Beuren syndrome (WBS), a complex multisystemic neurodevelopmental disorder...
  4. Danoff S, Taylor H, Blackshaw S, Desiderio S. TFII-I, a candidate gene for Williams syndrome cognitive profile: parallels between regional expression in mouse brain and human phenotype. Neuroscience. 2004;123:931-8 pubmed
    ..These observations are consistent with the hypothesis that deletion of the gene for TFII-I contributes to the cognitive impairments observed in WS. ..
  5. Enkhmandakh B, Bitchevaia N, Ruddle F, Bayarsaihan D. The early embryonic expression of TFII-I during mouse preimplantation development. Gene Expr Patterns. 2004;4:25-8 pubmed
    ..TFII-I and BEN, a second member of this family, are involved in histone modification and SUMOylation. The genes, GTF2I and GTF2IRD1, encoding these proteins in human are located at chromosomal band 7q11...
  6. Mammoto A, Connor K, Mammoto T, Yung C, Huh D, Aderman C, et al. A mechanosensitive transcriptional mechanism that controls angiogenesis. Nature. 2009;457:1103-8 pubmed publisher
    ..vivo by modulating the balance of activities between two antagonistic transcription factors, TFII-I (also known as GTF2I) and GATA2, that govern gene expression of the VEGF receptor VEGFR2 (also known as KDR)...
  7. Ohazama A, Sharpe P. TFII-I gene family during tooth development: candidate genes for tooth anomalies in Williams syndrome. Dev Dyn. 2007;236:2884-8 pubmed
    ..b>Gtf2i showed widespread expression in the developing head but was higher in the developing teeth than surrounding ..
  8. Wang Y, Spörle R, Paperna T, Schughart K, Francke U. Characterization and expression pattern of the frizzled gene Fzd9, the mouse homolog of FZD9 which is deleted in Williams-Beuren syndrome. Genomics. 1999;57:235-48 pubmed
    ..These results suggest potential Wnt ligands of Fzd9, a role of Fzd9 in skeletal muscle specification, and contributions of FZD9 to the WBS phenotype. ..
  9. Hakre S, Tussie Luna M, Ashworth T, Novina C, Settleman J, Sharp P, et al. Opposing functions of TFII-I spliced isoforms in growth factor-induced gene expression. Mol Cell. 2006;24:301-8 pubmed
    ..Our results identify a unique growth factor signaling pathway controlled by opposing activities of two TFII-I spliced isoforms. ..

More Information

Publications39

  1. Suto J, Sekikawa K. Further mapping and characterization of Naq1, a quantitative trait locus responsible for maternal inferior nurturing ability in RR mice. J Vet Med Sci. 2004;66:1033-8 pubmed
    ..Naq1 is a novel QTL as far as the QTL results of relevant female reproductive traits in cattle and pigs are concerned. ..
  2. Yang W, Desiderio S. BAP-135, a target for Bruton's tyrosine kinase in response to B cell receptor engagement. Proc Natl Acad Sci U S A. 1997;94:604-9 pubmed
    ..Taken together, these observations suggest that BAP-135 may reside downstream of Btk in a signaling pathway originating at the BCR. ..
  3. Sacristán C, Schattgen S, Berg L, Bunnell S, Roy A, Rosenstein Y. Characterization of a novel interaction between transcription factor TFII-I and the inducible tyrosine kinase in T cells. Eur J Immunol. 2009;39:2584-95 pubmed publisher
    ..Mutations within Itk's kinase, pleckstrin-homology, and proline-rich regions did not abolish TFII-I-Itk binding. Our results provide an initial step in understanding the biological role of Itk-TFII-I signaling in T-cell function. ..
  4. Bayarsaihan D, Dunai J, Greally J, Kawasaki K, Sumiyama K, Enkhmandakh B, et al. Genomic organization of the genes Gtf2ird1, Gtf2i, and Ncf1 at the mouse chromosome 5 region syntenic to the human chromosome 7q11.23 Williams syndrome critical region. Genomics. 2002;79:137-43 pubmed
    We have recently isolated a mouse ortholog of human GTF2IRD1 that is related to GTF2I. GTF2IRD1 and GTF2I proteins are characterized by the presence of multiple helix-loop-helix domains and a leucine zipper motif...
  5. Segura Puimedon M, Borralleras C, Perez Jurado L, Campuzano V. TFII-I regulates target genes in the PI-3K and TGF-? signaling pathways through a novel DNA binding motif. Gene. 2013;527:529-36 pubmed publisher
    ..protein involved in the transcriptional regulation of critical developmental genes, encoded by the GTF2I gene located on chromosome 7q11.23...
  6. Hong M, Lin M, Huang J, Baumeister P, Hakre S, Roy A, et al. Transcriptional regulation of the Grp78 promoter by endoplasmic reticulum stress: role of TFII-I and its tyrosine phosphorylation. J Biol Chem. 2005;280:16821-8 pubmed
    ..Our studies provide a molecular link that connects the c-Src tyrosine kinase transduction pathway to ER stress-induced transcriptional activation of Grp78 mediated by TFII-I. ..
  7. Sakurai T, Dorr N, Takahashi N, McInnes L, Elder G, Buxbaum J. Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions. Autism Res. 2011;4:28-39 pubmed publisher
    ..23 region, containing about 28 genes. One of genes in the region, GTF2I, has been implicated in the hypersociability and visuospatial deficits of WBS based on genotype-phenotype ..
  8. Peña Hernández R, Marques M, Hilmi K, Zhao T, Saad A, Alaoui Jamali M, et al. Genome-wide targeting of the epigenetic regulatory protein CTCF to gene promoters by the transcription factor TFII-I. Proc Natl Acad Sci U S A. 2015;112:E677-86 pubmed publisher
    ..Our data indicate that TFII-I directs CTCF binding to target genes, and in turn the two proteins cooperate to recruit CDK8 and enhance transcription initiation. ..
  9. Ashworth T, Roy A. Cutting Edge: TFII-I controls B cell proliferation via regulating NF-kappaB. J Immunol. 2007;178:2631-5 pubmed
    ..Thus, besides controlling c-myc transcription, TFII-I controls B cell proliferation by regulating both nuclear translocation of c-rel and DNA-binding activity of p50 NF-kappaB. ..
  10. Chimge N, Makeyev A, Ruddle F, Bayarsaihan D. Identification of the TFII-I family target genes in the vertebrate genome. Proc Natl Acad Sci U S A. 2008;105:9006-10 pubmed publisher
    b>GTF2I and GTF2IRD1 encode members of the TFII-I transcription factor family and are prime candidates in the Williams syndrome, a complex neurodevelopmental disorder...
  11. Makeyev A, Bayarsaihan D. Alternative splicing and promoter use in TFII-I genes. Gene. 2009;433:16-25 pubmed publisher
    ..Analysis of atypical small and rare chromosomal deletions at 7q11.23 points to TFII-I genes (GTF2I and GTF2IRD1) as the prime candidates responsible for craniofacial and cognitive abnormalities in the Williams-..
  12. Enkhmandakh B, Stoddard C, Mack K, He W, Kaback D, Yee S, et al. Generation of a mouse model for a conditional inactivation of Gtf2i allele. Genesis. 2016;54:407-12 pubmed publisher
    The multifunctional transcription factor TFII-I encoded by the Gtf2i gene is expressed at the two-cell stage, inner cell mass, trophectoderm, and early gastrula stages of the mouse embryo...
  13. Chimge N, Makeyev A, Waigel S, Enkhmandakh B, Bayarsaihan D. PI3K/Akt-dependent functions of TFII-I transcription factors in mouse embryonic stem cells. J Cell Biochem. 2012;113:1122-31 pubmed publisher
    ..is sufficient to maintain the pluripotency of mouse embryonic stem cells (mESC) and results in down-regulation of Gtf2i and Gtf2ird1 encoding TFII-I family transcription factors...
  14. Fijalkowska I, Sharma D, Bult C, Danoff S. Expression of the transcription factor, TFII-I, during post-implantation mouse embryonic development. BMC Res Notes. 2010;3:203 pubmed publisher
    General transcription factor (TFII-I) is a multi-functional transcription factor encoded by the Gtf2i gene, that has been demonstrated to regulate transcription of genes critical for development...
  15. Cheriyath V, Desgranges Z, Roy A. c-Src-dependent transcriptional activation of TFII-I. J Biol Chem. 2002;277:22798-805 pubmed
    ..These data demonstrate that TFII-I, through a Src-dependent mechanism, reversibly translocates from the cytoplasm to the nucleus, leading to the transcriptional activation of growth-regulated genes. ..
  16. MacFarlane A, Perry C, Girnary H, Gao D, Allen R, Stabler S, et al. Mthfd1 is an essential gene in mice and alters biomarkers of impaired one-carbon metabolism. J Biol Chem. 2009;284:1533-9 pubmed publisher
    ..Further, the depletion of cytoplasmic FTHFS activity enhances thymidylate synthesis, affirming the competition between thymidylate synthesis and homocysteine remethylation for THF cofactors. ..
  17. Ku M, Sokol S, Wu J, Tussie Luna M, Roy A, Hata A. Positive and negative regulation of the transforming growth factor beta/activin target gene goosecoid by the TFII-I family of transcription factors. Mol Cell Biol. 2005;25:7144-57 pubmed
    ..These results suggest a model in which TFII-I family proteins have opposing effects in the regulation of the Gsc gene in response to a TGFbeta/activin signal. ..
  18. Perez Jurado L, Wang Y, Francke U, Cruces J. TBL2, a novel transducin family member in the WBS deletion: characterization of the complete sequence, genomic structure, transcriptional variants and the mouse ortholog. Cytogenet Cell Genet. 1999;86:277-84 pubmed
    ..23. Since haploinsufficiency has been shown for other WD-repeat containing proteins, hemizygosity of TBL2 may contribute to some of the aspects of the complex WBS phenotype. ..
  19. Lazebnik M, Tussie Luna M, Hinds P, Roy A. Williams-Beuren syndrome-associated transcription factor TFII-I regulates osteogenic marker genes. J Biol Chem. 2009;284:36234-9 pubmed publisher
    ..Identification of pathways regulated by TFII-I family transcription factors may begin to shed light on the molecular determinants of WBS. ..
  20. Lucena J, Pezzi S, Aso E, Valero M, Carreiro C, Dubus P, et al. Essential role of the N-terminal region of TFII-I in viability and behavior. BMC Med Genet. 2010;11:61 pubmed publisher
    b>GTF2I codes for a general intrinsic transcription factor and calcium channel regulator TFII-I, with high and ubiquitous expression, and a strong candidate for involvement in the morphological and neuro-developmental anomalies of the ..
  21. Mervis C, Dida J, Lam E, Crawford Zelli N, Young E, Henderson D, et al. Duplication of GTF2I results in separation anxiety in mice and humans. Am J Hum Genet. 2012;90:1064-70 pubmed publisher
    ..of one commonly duplicated or deleted gene in separation anxiety, we compared mice that had varying numbers of Gtf2i copies...
  22. Inberg A, Linial M. Protection of pancreatic beta-cells from various stress conditions is mediated by DJ-1. J Biol Chem. 2010;285:25686-98 pubmed publisher
    ..We identified TFII-I (Gtf2i) as DJ-1 partner in the cytosol, whereas the binding of TFII-I to DJ-1 prevented TFII-I translocation to the ..
  23. Doi Katayama Y, Hayashi F, Inoue M, Yabuki T, Aoki M, Seki E, et al. Solution structure of the general transcription factor 2I domain in mouse TFII-I protein. Protein Sci. 2007;16:1788-92 pubmed
    The general transcription factor TFII-I, with the corresponding gene name GTF2I, is an unusual transcriptional regulator that associates with both basal and signal-induced transcription factors...
  24. Jiang W, Sordella R, Chen G, Hakre S, Roy A, Settleman J. An FF domain-dependent protein interaction mediates a signaling pathway for growth factor-induced gene expression. Mol Cell. 2005;17:23-35 pubmed
    ..These findings reveal a pathway by which mitogens promote gene transcription and indicate a role for FF domains in phosphorylation-mediated signal transduction. ..
  25. Tantin D, Tussie Luna M, Roy A, Sharp P. Regulation of immunoglobulin promoter activity by TFII-I class transcription factors. J Biol Chem. 2004;279:5460-9 pubmed
    ..Dominant-negative and RNAi-mediated knockdown experiments indicate that BEN can both positively and negatively regulate IgH promoter activity, depending on the cell line. ..
  26. Paperna T, Peoples R, Wang Y, Kaplan P, Francke U. Genes for the CPE receptor (CPETR1) and the human homolog of RVP1 (CPETR2) are localized within the Williams-Beuren syndrome deletion. Genomics. 1998;54:453-9 pubmed
    ..Our results suggest a role for CPE-R in internal organ development and function during pre- and postnatal life. ..
  27. Palmer S, Taylor K, Santucci N, Widagdo J, Chan Y, Yeo J, et al. GTF2IRD2 from the Williams-Beuren critical region encodes a mobile-element-derived fusion protein that antagonizes the action of its related family members. J Cell Sci. 2012;125:5040-50 pubmed publisher
    ..These data suggest that GTF2IRD2 has evolved as a regulator of GTF2IRD1 and TFII-I; inhibiting their function by direct interaction and sequestration into inactive nuclear zones. ..
  28. Wade N, Bryant N, Connolly L, Simpson R, Luzio J, Piper R, et al. Syntaxin 7 complexes with mouse Vps10p tail interactor 1b, syntaxin 6, vesicle-associated membrane protein (VAMP)8, and VAMP7 in b16 melanoma cells. J Biol Chem. 2001;276:19820-7 pubmed
  29. Segura Puimedon M, Sahún I, Velot E, Dubus P, Borralleras C, Rodrigues A, et al. Heterozygous deletion of the Williams-Beuren syndrome critical interval in mice recapitulates most features of the human disorder. Hum Mol Genet. 2014;23:6481-94 pubmed publisher
  30. Tussie Luna M, Michel B, Hakre S, Roy A. The SUMO ubiquitin-protein isopeptide ligase family member Miz1/PIASxbeta /Siz2 is a transcriptional cofactor for TFII-I. J Biol Chem. 2002;277:43185-93 pubmed
    ..Finally, ectopically expressed Miz1/mPIASxbeta augments the transcriptional activity of TFII-I and relieves the repression exerted by a mutant hMusTRD1/BEN that co-localized with TFII-I in the nucleus. ..