2ed2
From Proteopedia
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{{STRUCTURE_2ed2| PDB=2ed2 | SCENE= }} | {{STRUCTURE_2ed2| PDB=2ed2 | SCENE= }} | ||
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===Solution Structure of RSGI RUH-069, a GTF2I domain in human cDNA=== | ===Solution Structure of RSGI RUH-069, a GTF2I domain in human cDNA=== | ||
+ | ==Disease== | ||
+ | [[http://www.uniprot.org/uniprot/GTF2I_HUMAN GTF2I_HUMAN]] Note=GTF2I is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of GTF2I may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. | ||
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+ | ==Function== | ||
+ | [[http://www.uniprot.org/uniprot/GTF2I_HUMAN GTF2I_HUMAN]] Interacts with the basal transcription machinery by coordinating the formation of a multiprotein complex at the C-FOS promoter, and linking specific signal responsive activator complexes. Promotes the formation of stable high-order complexes of SRF and PHOX1 and interacts cooperatively with PHOX1 to promote serum-inducible transcription of a reporter gene deriven by the C-FOS serum response element (SRE). Acts as a coregulator for USF1 by binding independently two promoter elements, a pyrimidine-rich initiator (Inr) and an upstream E-box. Required for the formation of functional ARID3A DNA-binding complexes and for activation of immunoglobulin heavy-chain transcription upon B-lymphocyte activation.<ref>PMID:10373551</ref><ref>PMID:11373296</ref><ref>PMID:16738337</ref> | ||
==About this Structure== | ==About this Structure== | ||
[[2ed2]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2ED2 OCA]. | [[2ed2]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2ED2 OCA]. | ||
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+ | ==Reference== | ||
+ | <references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Doi-Katayama, Y.]] | [[Category: Doi-Katayama, Y.]] |
Revision as of 19:18, 24 March 2013
Contents |
Solution Structure of RSGI RUH-069, a GTF2I domain in human cDNA
Disease
[GTF2I_HUMAN] Note=GTF2I is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of GTF2I may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.
Function
[GTF2I_HUMAN] Interacts with the basal transcription machinery by coordinating the formation of a multiprotein complex at the C-FOS promoter, and linking specific signal responsive activator complexes. Promotes the formation of stable high-order complexes of SRF and PHOX1 and interacts cooperatively with PHOX1 to promote serum-inducible transcription of a reporter gene deriven by the C-FOS serum response element (SRE). Acts as a coregulator for USF1 by binding independently two promoter elements, a pyrimidine-rich initiator (Inr) and an upstream E-box. Required for the formation of functional ARID3A DNA-binding complexes and for activation of immunoglobulin heavy-chain transcription upon B-lymphocyte activation.[1][2][3]
About this Structure
2ed2 is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.
Reference
- ↑ Novina CD, Kumar S, Bajpai U, Cheriyath V, Zhang K, Pillai S, Wortis HH, Roy AL. Regulation of nuclear localization and transcriptional activity of TFII-I by Bruton's tyrosine kinase. Mol Cell Biol. 1999 Jul;19(7):5014-24. PMID:10373551
- ↑ Egloff AM, Desiderio S. Identification of phosphorylation sites for Bruton's tyrosine kinase within the transcriptional regulator BAP/TFII-I. J Biol Chem. 2001 Jul 27;276(30):27806-15. Epub 2001 May 23. PMID:11373296 doi:10.1074/jbc.M103692200
- ↑ Rajaiya J, Nixon JC, Ayers N, Desgranges ZP, Roy AL, Webb CF. Induction of immunoglobulin heavy-chain transcription through the transcription factor Bright requires TFII-I. Mol Cell Biol. 2006 Jun;26(12):4758-68. PMID:16738337 doi:10.1128/MCB.02009-05
Categories: Homo sapiens | Doi-Katayama, Y. | Hayashi, F. | Hirota, H. | Izumi, K. | RSGI, RIKEN Structural Genomics/Proteomics Initiative. | Yokoyama, S. | Yoshida, M. | National project on protein structural and functional analyse | Nppsfa | Riken structural genomics/proteomics initiative | Rsgi | Structural genomic | Transcription | Transcription factor | Unknown function