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{{Infobox_gene}}
{{PBB_Controls
'''General transcription factor II-I repeat domain-containing protein 1''' is a [[protein]] that in humans is encoded by the ''GTF2IRD1'' [[gene]].<ref name="pmid9774679">{{cite journal |vauthors=O'Mahoney JV, Guven KL, Lin J, Joya JE, Robinson CS, Wade RP, Hardeman EC | title = Identification of a novel slow-muscle-fiber enhancer binding protein, MusTRD1 |journal=[[Molecular and Cellular Biology]] | volume = 18 | issue = 11 | pages = 6641–52 |date=November 1998 | pmid = 9774679 | pmc = 109249 | doi =  }}</ref><ref name="pmid10198167">{{cite journal |vauthors=Osborne LR, Campbell T, Daradich A, Scherer SW, Tsui LC | 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 |date=May 1999 | pmid = 10198167 | pmc =  | doi = 10.1006/geno.1999.5784 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: GTF2IRD1 GTF2I repeat domain containing 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9569| accessdate = }}</ref>
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{{GNF_Protein_box
| image = PBB_Protein_GTF2IRD1_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 2d99.
| PDB = {{PDB2|2d99}}, {{PDB2|2dn5}}, {{PDB2|2dzq}}, {{PDB2|2dzr}}
| Name = GTF2I repeat domain containing 1
| HGNCid = 4661
| Symbol = GTF2IRD1
| AltSymbols =; WBS; CREAM1; GTF3; MUSTRD1; RBAP2; WBSCR11; WBSCR12; hMusTRD1alpha1
| OMIM = 604318
| ECnumber =
| Homologene = 4158
| MGIid = 1861942
| Function = {{GNF_GO|id=GO:0003677 |text = DNA binding}} {{GNF_GO|id=GO:0003705 |text = RNA polymerase II transcription factor activity, enhancer binding}}
  | Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}  
| Process = {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0007275 |text = multicellular organismal development}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 9569
    | Hs_Ensembl = ENSG00000006704
    | Hs_RefseqProtein = NP_005676
    | Hs_RefseqmRNA = NM_005685
    | Hs_GenLoc_db =
    | Hs_GenLoc_chr = 7
    | Hs_GenLoc_start = 73506056
    | Hs_GenLoc_end = 73654846
    | Hs_Uniprot = Q9UHL9
    | Mm_EntrezGene = 57080
    | Mm_Ensembl = ENSMUSG00000023079
    | Mm_RefseqmRNA = NM_001081462
    | Mm_RefseqProtein = NP_001074931
    | Mm_GenLoc_db =   
    | Mm_GenLoc_chr = 5
    | Mm_GenLoc_start = 134642288
    | Mm_GenLoc_end = 134741338
    | Mm_Uniprot = Q9EQE6
  }}
}}
'''GTF2I repeat domain containing 1''', also known as '''GTF2IRD1''', is a human [[gene]].<ref name="entrez">{{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 = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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{{PBB_Summary
{{PBB_Summary
| section_title =  
| 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.<ref name="entrez">{{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 = }}</ref>
| 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.<ref name="entrez">{{cite web | title = Entrez Gene: GTF2IRD1 GTF2I repeat domain containing 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9569| accessdate = }}</ref>
}}
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| 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   |vauthors=Tassabehji M, Carette M, Wilmot C, etal |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=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  |vauthors=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=10.1159/000015322  }}
*{{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   |vauthors=Yan X, Zhao X, Qian M, etal |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=10.1042/0264-6021:3450749  | pmc=1220813  }}
*{{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  |vauthors=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  | pmc=35420 }}
*{{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  |vauthors=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, 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   |vauthors=Tussié-Luna MI, Bayarsaihan D, Seto E, etal |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  | pmc=130541 }}
*{{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  |vauthors=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=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   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |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  | pmc=139241 }}
*{{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   |vauthors=Hillier LW, Fulton RS, Fulton LA, etal |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=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   |vauthors=Polly P, Haddadi LM, Issa LL, etal |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=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   |vauthors=Hirota H, Matsuoka R, Chen XN, etal |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=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  |vauthors=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  | pmc=442147 }}
*{{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   |vauthors=Beausoleil SA, Jedrychowski M, Schwartz D, etal |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  | pmc=514446 }}
*{{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   |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |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 | pmc=528928 }}
*{{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   |vauthors=Grimsby S, Jaensson H, Dubrovska A, etal |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=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   |vauthors=Jackson TA, Taylor HE, Sharma D, etal |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=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   |vauthors=Rual JF, Venkatesan K, Hao T, etal |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=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   |vauthors=Tassabehji M, Hammond P, Karmiloff-Smith A, etal |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 }}
*{{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 }}
}}
}}
{{refend}}
{{refend}}
{{PDB Gallery|geneid=9569}}
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Revision as of 09:09, 31 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
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Wikidata
View/Edit Human

General transcription factor II-I repeat domain-containing protein 1 is a protein that in humans is encoded by the GTF2IRD1 gene.[1][2][3]

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.[3]

References

  1. ↑ O'Mahoney JV, Guven KL, Lin J, Joya JE, Robinson CS, Wade RP, Hardeman EC (November 1998). "Identification of a novel slow-muscle-fiber enhancer binding protein, MusTRD1". Molecular and Cellular Biology. 18 (11): 6641–52. PMC 109249. PMID 9774679.
  2. ↑ Osborne LR, Campbell T, Daradich A, Scherer SW, Tsui LC (May 1999). "Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome". Genomics. 57 (2): 279–84. doi:10.1006/geno.1999.5784. PMID 10198167.
  3. ↑ 3.0 3.1 "Entrez Gene: GTF2IRD1 GTF2I repeat domain containing 1".

Further reading



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