2ed2: Difference between revisions

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[[Image:2ed2.png|left|200px]]
{{STRUCTURE_2ed2|  PDB=2ed2  |  SCENE=  }}  
{{STRUCTURE_2ed2|  PDB=2ed2  |  SCENE=  }}  
===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.


==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].  
==Reference==
<references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Doi-Katayama, Y.]]
[[Category: Doi-Katayama, Y.]]