2csf

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{{STRUCTURE_2csf| PDB=2csf | SCENE= }}
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==Solution structure of the second CUT domain of human SATB2==
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===Solution structure of the second CUT domain of human SATB2===
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<StructureSection load='2csf' size='340' side='right' caption='[[2csf]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''>
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== Structural highlights ==
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==Disease==
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<table><tr><td colspan='2'>[[2csf]] 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=2CSF OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2CSF FirstGlance]. <br>
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[[http://www.uniprot.org/uniprot/SATB2_HUMAN SATB2_HUMAN]] Note=Chromosomal aberrations involving SATB2 are found in isolated cleft palate. Translocation t(2;7); translocation t(2;11). Defects in SATB2 are a cause of cleft palate isolated (CPI) [MIM:[http://omim.org/entry/119540 119540]]. A congenital fissure of the soft and/or hard palate, due to faulty fusion. Isolated cleft palate is not associated with cleft lips. Some patients may manifest other craniofacial dysmorphic features, mental retardation, and osteoporosis.<ref>PMID:12915443</ref><ref>PMID:17377962</ref> Note=A chromosomal aberration involving SATB2 is found in a patient with classical features of Toriello-Carey syndrome. Translocation t(2;14)(q33;q22).
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</td></tr><tr><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">KAZUSA cDNA fh00753 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>
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<tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2csf FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2csf OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2csf RCSB], [http://www.ebi.ac.uk/pdbsum/2csf PDBsum], [http://www.topsan.org/Proteins/RSGI/2csf TOPSAN]</span></td></tr>
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==Function==
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<table>
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[[http://www.uniprot.org/uniprot/SATB2_HUMAN SATB2_HUMAN]] Binds to DNA, at nuclear matrix- or scaffold-associated regions. Thought to recognize the sugar-phosphate structure of double-stranded DNA. Transcription factor controlling nuclear gene expression, by binding to matrix attachment regions (MARs) of DNA and inducing a local chromatin-loop remodeling. Acts as a docking site for several chromatin remodeling enzymes and also by recruiting corepressors (HDACs) or coactivators (HATs) directly to promoters and enhancers. Required for the initiation of the upper-layer neurons (UL1) specific genetic program and for the inactivation of deep-layer neurons (DL) and UL2 specific genes, probably by modulating BCL11B expression. Repressor of Ctip2 and regulatory determinant of corticocortical connections in the developing cerebral cortex. May play an important role in palate formation. Acts as a molecular node in a transcriptional network regulating skeletal development and osteoblast differentiation.<ref>PMID:14701874</ref>
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== Disease ==
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[[http://www.uniprot.org/uniprot/SATB2_HUMAN SATB2_HUMAN]] Note=Chromosomal aberrations involving SATB2 are found in isolated cleft palate. Translocation t(2;7); translocation t(2;11). Defects in SATB2 are a cause of cleft palate isolated (CPI) [MIM:[http://omim.org/entry/119540 119540]]. A congenital fissure of the soft and/or hard palate, due to faulty fusion. Isolated cleft palate is not associated with cleft lips. Some patients may manifest other craniofacial dysmorphic features, mental retardation, and osteoporosis.<ref>PMID:12915443</ref> <ref>PMID:17377962</ref> Note=A chromosomal aberration involving SATB2 is found in a patient with classical features of Toriello-Carey syndrome. Translocation t(2;14)(q33;q22).
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==About this Structure==
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== Function ==
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[[2csf]] 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=2CSF OCA].
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[[http://www.uniprot.org/uniprot/SATB2_HUMAN SATB2_HUMAN]] Binds to DNA, at nuclear matrix- or scaffold-associated regions. Thought to recognize the sugar-phosphate structure of double-stranded DNA. Transcription factor controlling nuclear gene expression, by binding to matrix attachment regions (MARs) of DNA and inducing a local chromatin-loop remodeling. Acts as a docking site for several chromatin remodeling enzymes and also by recruiting corepressors (HDACs) or coactivators (HATs) directly to promoters and enhancers. Required for the initiation of the upper-layer neurons (UL1) specific genetic program and for the inactivation of deep-layer neurons (DL) and UL2 specific genes, probably by modulating BCL11B expression. Repressor of Ctip2 and regulatory determinant of corticocortical connections in the developing cerebral cortex. May play an important role in palate formation. Acts as a molecular node in a transcriptional network regulating skeletal development and osteoblast differentiation.<ref>PMID:14701874</ref>
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== Evolutionary Conservation ==
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==Reference==
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[[Image:Consurf_key_small.gif|200px|right]]
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<references group="xtra"/><references/>
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Check<jmol>
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<jmolCheckbox>
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<scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/cs/2csf_consurf.spt"</scriptWhenChecked>
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<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
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<text>to colour the structure by Evolutionary Conservation</text>
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</jmolCheckbox>
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</jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/chain_selection.php?pdb_ID=2ata ConSurf].
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<div style="clear:both"></div>
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== References ==
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<references/>
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__TOC__
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Hayashi, F.]]
[[Category: Hayashi, F.]]

Revision as of 01:13, 30 September 2014

Solution structure of the second CUT domain of human SATB2

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