2le4
From Proteopedia
Line 1: | Line 1: | ||
- | + | {{STRUCTURE_2le4| PDB=2le4 | SCENE= }} | |
+ | ===Solution structure of the HMG box DNA-binding domain of human stem cell transcription factor Sox2=== | ||
- | + | ==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> | ||
- | + | ==About this Structure== | |
+ | [[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]. | ||
+ | |||
+ | ==Reference== | ||
+ | <references group="xtra"/><references/> | ||
+ | [[Category: Homo sapiens]] | ||
+ | [[Category: Bahrami, A.]] | ||
+ | [[Category: CESG, Center for Eukaryotic Structural Genomics.]] | ||
+ | [[Category: Eghbalnia, H R.]] | ||
+ | [[Category: Markley, J L.]] | ||
+ | [[Category: Sahu, S C.]] | ||
+ | [[Category: Tonelli, M.]] | ||
+ | [[Category: Center for eukaryotic structural genomic]] | ||
+ | [[Category: Cesg]] | ||
+ | [[Category: Protein structure initiative]] | ||
+ | [[Category: Psi]] | ||
+ | [[Category: Structural genomic]] | ||
+ | [[Category: Transcription]] |
Revision as of 04:51, 25 March 2013
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
- ↑ 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