2le4

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'''Unreleased structure'''
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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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The entry 2le4 is ON HOLD
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==Disease==
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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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Authors: Sahu, S.C., Markley, J.L., Tonelli, M., Bahrami, A., Eghbalnia, H.R., Center for Eukaryotic Structural Genomics (CESG)
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==Function==
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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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Description: Solution structure of the HMG box DNA-binding domain of human stem cell transcription factor Sox2
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==About this Structure==
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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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==Reference==
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<references group="xtra"/><references/>
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[[Category: Homo sapiens]]
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[[Category: Bahrami, A.]]
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[[Category: CESG, Center for Eukaryotic Structural Genomics.]]
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[[Category: Eghbalnia, H R.]]
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[[Category: Markley, J L.]]
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[[Category: Sahu, S C.]]
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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]]

Revision as of 04:51, 25 March 2013

Template:STRUCTURE 2le4

Contents

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

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]

About this Structure

2le4 is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.

Reference

  1. ↑ 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
  2. ↑ 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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