GTF2IRD1

GTF2I repeat domain containing 1, also known as GTF2IRD1, is a human gene.cite web | title = Entrez Gene: GTF2IRD1 GTF2I repeat domain containing 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9569| accessdate = ]

PBB_Summary
section_title =
summary_text = The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing of this gene generates at least 2 transcript variants.cite web | title = Entrez Gene: GTF2IRD1 GTF2I repeat domain containing 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9569| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=O'Mahoney JV, Guven KL, Lin J, "et al." |title=Identification of a novel slow-muscle-fiber enhancer binding protein, MusTRD1. |journal=Mol. Cell. Biol. |volume=18 |issue= 11 |pages= 6641–52 |year= 1998 |pmid= 9774679 |doi=
*cite journal | author=Osborne LR, Campbell T, Daradich A, "et al." |title=Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome. |journal=Genomics |volume=57 |issue= 2 |pages= 279–84 |year= 1999 |pmid= 10198167 |doi= 10.1006/geno.1999.5784
*cite journal | author=Tassabehji M, Carette M, Wilmot C, "et al." |title=A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome. |journal=Eur. J. Hum. Genet. |volume=7 |issue= 7 |pages= 737–47 |year= 2000 |pmid= 10573005 |doi= 10.1038/sj.ejhg.5200396
*cite journal | author=Franke Y, Peoples RJ, Francke U |title=Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23. |journal=Cytogenet. Cell Genet. |volume=86 |issue= 3-4 |pages= 296–304 |year= 2000 |pmid= 10575229 |doi=
*cite journal | author=Yan X, Zhao X, Qian M, "et al." |title=Characterization and gene structure of a novel retinoblastoma-protein-associated protein similar to the transcription regulator TFII-I. |journal=Biochem. J. |volume=345 Pt 3 |issue= |pages= 749–57 |year= 2000 |pmid= 10642537 |doi=
*cite journal | author=Tussié-Luna MI, Bayarsaihan D, Ruddle FH, Roy AL |title=Repression of TFII-I-dependent transcription by nuclear exclusion. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=98 |issue= 14 |pages= 7789–94 |year= 2001 |pmid= 11438732 |doi= 10.1073/pnas.141222298
*cite journal | author=Tussie-Luna MI, Michel B, Hakre S, Roy AL |title=The SUMO ubiquitin-protein isopeptide ligase family member Miz1/PIASxbeta /Siz2 is a transcriptional cofactor for TFII-I. |journal=J. Biol. Chem. |volume=277 |issue= 45 |pages= 43185–93 |year= 2003 |pmid= 12193603 |doi= 10.1074/jbc.M207635200
*cite journal | author=Tussié-Luna MI, Bayarsaihan D, Seto E, "et al." |title=Physical and functional interactions of histone deacetylase 3 with TFII-I family proteins and PIASxbeta. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 20 |pages= 12807–12 |year= 2002 |pmid= 12239342 |doi= 10.1073/pnas.192464499
*cite journal | author=Vullhorst D, Buonanno A |title=Characterization of general transcription factor 3, a transcription factor involved in slow muscle-specific gene expression. |journal=J. Biol. Chem. |volume=278 |issue= 10 |pages= 8370–9 |year= 2003 |pmid= 12475981 |doi= 10.1074/jbc.M209361200
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Hillier LW, Fulton RS, Fulton LA, "et al." |title=The DNA sequence of human chromosome 7. |journal=Nature |volume=424 |issue= 6945 |pages= 157–64 |year= 2003 |pmid= 12853948 |doi= 10.1038/nature01782
*cite journal | author=Polly P, Haddadi LM, Issa LL, "et al." |title=hMusTRD1alpha1 represses MEF2 activation of the troponin I slow enhancer. |journal=J. Biol. Chem. |volume=278 |issue= 38 |pages= 36603–10 |year= 2003 |pmid= 12857748 |doi= 10.1074/jbc.M212814200
*cite journal | author=Hirota H, Matsuoka R, Chen XN, "et al." |title=Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23. |journal=Genet. Med. |volume=5 |issue= 4 |pages= 311–21 |year= 2004 |pmid= 12865760 |doi= 10.1097/01.GIM.0000076975.10224.67
*cite journal | author=Lehner B, Sanderson CM |title=A protein interaction framework for human mRNA degradation. |journal=Genome Res. |volume=14 |issue= 7 |pages= 1315–23 |year= 2004 |pmid= 15231747 |doi= 10.1101/gr.2122004
*cite journal | author=Beausoleil SA, Jedrychowski M, Schwartz D, "et al." |title=Large-scale characterization of HeLa cell nuclear phosphoproteins. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 33 |pages= 12130–5 |year= 2004 |pmid= 15302935 |doi= 10.1073/pnas.0404720101
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Grimsby S, Jaensson H, Dubrovska A, "et al." |title=Proteomics-based identification of proteins interacting with Smad3: SREBP-2 forms a complex with Smad3 and inhibits its transcriptional activity. |journal=FEBS Lett. |volume=577 |issue= 1-2 |pages= 93–100 |year= 2005 |pmid= 15527767 |doi= 10.1016/j.febslet.2004.09.069
*cite journal | author=Jackson TA, Taylor HE, Sharma D, "et al." |title=Vascular endothelial growth factor receptor-2: counter-regulation by the transcription factors, TFII-I and TFII-IRD1. |journal=J. Biol. Chem. |volume=280 |issue= 33 |pages= 29856–63 |year= 2005 |pmid= 15941713 |doi= 10.1074/jbc.M500335200
*cite journal | author=Rual JF, Venkatesan K, Hao T, "et al." |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209
*cite journal | author=Tassabehji M, Hammond P, Karmiloff-Smith A, "et al." |title=GTF2IRD1 in craniofacial development of humans and mice. |journal=Science |volume=310 |issue= 5751 |pages= 1184–7 |year= 2005 |pmid= 16293761 |doi= 10.1126/science.1116142

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