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| | ==Solution structure of the HMG box DNA-binding domain of human stem cell transcription factor Sox2== | | ==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=''> | + | <StructureSection load='2le4' size='340' side='right'caption='[[2le4]]' scene=''> |
| | == Structural highlights == | | == Structural highlights == |
| - | <table><tr><td colspan='2'>[[2le4]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. 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> | + | <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='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 HUMAN])</td></tr> | + | </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'>[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://pdbe.org/2le4 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2le4 RCSB], [http://www.ebi.ac.uk/pdbsum/2le4 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=2le4 ProSAT]</span></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> | | </table> |
| | == Disease == | | == 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> | + | [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 == | | == 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> | + | [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 == |
| | <references/> | | <references/> |
| | __TOC__ | | __TOC__ |
| | </StructureSection> | | </StructureSection> |
| - | [[Category: Human]] | + | [[Category: Homo sapiens]] |
| - | [[Category: Bahrami, A]] | + | [[Category: Large Structures]] |
| - | [[Category: Structural genomic]] | + | [[Category: Bahrami A]] |
| - | [[Category: Eghbalnia, H R]] | + | [[Category: Eghbalnia HR]] |
| - | [[Category: Markley, J L]] | + | [[Category: Markley JL]] |
| - | [[Category: Sahu, S C]] | + | [[Category: Sahu SC]] |
| - | [[Category: Tonelli, M]] | + | [[Category: Tonelli M]] |
| - | [[Category: Cesg]]
| + | |
| - | [[Category: PSI, Protein structure initiative]]
| + | |
| - | [[Category: Transcription]]
| + | |
| Structural highlights
Disease
SOX2_HUMAN Defects in SOX2 are the cause of microphthalmia syndromic type 3 (MCOPS3) [MIM: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.[1]
Function
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).[2]
See Also
References
- ↑ Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, Howard-Peebles PN, Hayward C, Vivian AJ, Williamson K, van Heyningen V, FitzPatrick DR. Mutations in SOX2 cause anophthalmia. Nat Genet. 2003 Apr;33(4):461-3. Epub 2003 Mar 3. PMID:12612584 doi:10.1038/ng1120
- ↑ Takahashi K, Tanabe K, Ohnuki M, Narita M, Ichisaka T, Tomoda K, Yamanaka S. Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell. 2007 Nov 30;131(5):861-72. PMID:18035408 doi:10.1016/j.cell.2007.11.019
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