2le4: Difference between revisions
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==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]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> | |||
== Structural highlights == | |||
==Disease== | <table><tr><td colspan='2'>[[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]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2LE4 FirstGlance]. <br> | ||
[[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> | </td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">SOX2 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr> | ||
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2le4 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2le4 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2le4 RCSB], [http://www.ebi.ac.uk/pdbsum/2le4 PDBsum]</span></td></tr> | |||
==Function== | </table> | ||
[[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> | == Disease == | ||
[[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> | |||
== Function == | |||
[[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> | |||
== References == | |||
== | <references/> | ||
<references | __TOC__ | ||
</StructureSection> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Bahrami, A | [[Category: Bahrami, A]] | ||
[[Category: | [[Category: Structural genomic]] | ||
[[Category: Eghbalnia, H R | [[Category: Eghbalnia, H R]] | ||
[[Category: Markley, J L | [[Category: Markley, J L]] | ||
[[Category: Sahu, S C | [[Category: Sahu, S C]] | ||
[[Category: Tonelli, M | [[Category: Tonelli, M]] | ||
[[Category: Cesg]] | [[Category: Cesg]] | ||
[[Category: Protein structure initiative | [[Category: PSI, Protein structure initiative]] | ||
[[Category: Transcription]] | [[Category: Transcription]] | ||
Revision as of 12:29, 18 December 2014
Solution structure of the HMG box DNA-binding domain of human stem cell transcription factor Sox2
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