2le4

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{{STRUCTURE_2le4| PDB=2le4 | SCENE= }}
 
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===Solution structure of the HMG box DNA-binding domain of human stem cell transcription factor Sox2===
 
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==Disease==
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==Solution structure of the HMG box DNA-binding domain of human stem cell transcription factor Sox2==
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[[http://www.uniprot.org/uniprot/SOX2_HUMAN SOX2_HUMAN]] Defects in SOX2 are the cause of microphthalmia syndromic type 3 (MCOPS3) [MIM:[http://omim.org/entry/206900 206900]]. Microphthalmia is a clinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS3 is characterized by the rare association of malformations including uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with trachoesophageal fistula.<ref>PMID:12612584</ref>
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<StructureSection load='2le4' size='340' side='right'caption='[[2le4]]' scene=''>
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== Structural highlights ==
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<table><tr><td colspan='2'>[[2le4]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2LE4 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2LE4 FirstGlance]. <br>
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</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</td></tr>
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=2le4 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2le4 OCA], [https://pdbe.org/2le4 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2le4 RCSB], [https://www.ebi.ac.uk/pdbsum/2le4 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2le4 ProSAT]</span></td></tr>
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</table>
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== Disease ==
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[https://www.uniprot.org/uniprot/SOX2_HUMAN SOX2_HUMAN] Defects in SOX2 are the cause of microphthalmia syndromic type 3 (MCOPS3) [MIM:[https://omim.org/entry/206900 206900]. Microphthalmia is a clinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS3 is characterized by the rare association of malformations including uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with trachoesophageal fistula.<ref>PMID:12612584</ref>
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== Function ==
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[https://www.uniprot.org/uniprot/SOX2_HUMAN SOX2_HUMAN] Transcription factor that forms a trimeric complex with OCT4 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206 (By similarity). Critical for early embryogenesis and for embryonic stem cell pluripotency. May function as a switch in neuronal development. Downstream SRRT target that mediates the promotion of neural stem cell self-renewal (By similarity). Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation (By similarity).<ref>PMID:18035408</ref>
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==Function==
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==See Also==
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[[http://www.uniprot.org/uniprot/SOX2_HUMAN SOX2_HUMAN]] Transcription factor that forms a trimeric complex with OCT4 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206 (By similarity). Critical for early embryogenesis and for embryonic stem cell pluripotency. May function as a switch in neuronal development. Downstream SRRT target that mediates the promotion of neural stem cell self-renewal (By similarity). Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation (By similarity).<ref>PMID:18035408</ref>
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*[[OCT4 and SOX2 transcription factors|OCT4 and SOX2 transcription factors]]
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== References ==
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==About this Structure==
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<references/>
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[[2le4]] 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=2LE4 OCA].
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__TOC__
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</StructureSection>
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==Reference==
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<references group="xtra"/><references/>
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[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Bahrami, A.]]
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[[Category: Large Structures]]
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[[Category: CESG, Center for Eukaryotic Structural Genomics.]]
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[[Category: Bahrami A]]
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[[Category: Eghbalnia, H R.]]
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[[Category: Eghbalnia HR]]
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[[Category: Markley, J L.]]
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[[Category: Markley JL]]
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[[Category: Sahu, S C.]]
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[[Category: Sahu SC]]
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[[Category: Tonelli, M.]]
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[[Category: Tonelli M]]
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[[Category: Center for eukaryotic structural genomic]]
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[[Category: Cesg]]
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[[Category: Protein structure initiative]]
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[[Category: Psi]]
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[[Category: Structural genomic]]
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[[Category: Transcription]]
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Current revision

Solution structure of the HMG box DNA-binding domain of human stem cell transcription factor Sox2

PDB ID 2le4

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