2le4
From Proteopedia
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| - | '''Unreleased structure''' | ||
| - | + | ==Solution structure of the HMG box DNA-binding domain of human stem cell transcription factor Sox2== | |
| + | <StructureSection load='2le4' size='340' side='right'caption='[[2le4]]' scene=''> | ||
| + | == Structural highlights == | ||
| + | <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> | ||
| + | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</td></tr> | ||
| + | <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> | ||
| + | </table> | ||
| + | == Disease == | ||
| + | [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> | ||
| + | == Function == | ||
| + | [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> | ||
| - | + | ==See Also== | |
| - | + | *[[OCT4 and SOX2 transcription factors|OCT4 and SOX2 transcription factors]] | |
| - | + | == References == | |
| + | <references/> | ||
| + | __TOC__ | ||
| + | </StructureSection> | ||
| + | [[Category: Homo sapiens]] | ||
| + | [[Category: Large Structures]] | ||
| + | [[Category: Bahrami A]] | ||
| + | [[Category: Eghbalnia HR]] | ||
| + | [[Category: Markley JL]] | ||
| + | [[Category: Sahu SC]] | ||
| + | [[Category: Tonelli M]] | ||
Current revision
Solution structure of the HMG box DNA-binding domain of human stem cell transcription factor Sox2
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