1wiz: Difference between revisions
No edit summary |
No edit summary |
||
(12 intermediate revisions by the same user not shown) | |||
Line 1: | Line 1: | ||
==Solution structure of the first CUT domain of KIAA1034 protein== | |||
<StructureSection load='1wiz' size='340' side='right'caption='[[1wiz]]' scene=''> | |||
== Structural highlights == | |||
<table><tr><td colspan='2'>[[1wiz]] 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=1WIZ OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1WIZ FirstGlance]. <br> | |||
</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'>[https://proteopedia.org/fgij/fg.htm?mol=1wiz FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1wiz OCA], [https://pdbe.org/1wiz PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1wiz RCSB], [https://www.ebi.ac.uk/pdbsum/1wiz PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1wiz ProSAT], [https://www.topsan.org/Proteins/RSGI/1wiz TOPSAN]</span></td></tr> | |||
</table> | |||
== Disease == | |||
[https://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:[https://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). | |||
== Function == | |||
[https://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> | |||
== | == Evolutionary Conservation == | ||
[[Image:Consurf_key_small.gif|200px|right]] | |||
Check<jmol> | |||
<jmolCheckbox> | |||
<scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/wi/1wiz_consurf.spt"</scriptWhenChecked> | |||
<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked> | |||
<text>to colour the structure by Evolutionary Conservation</text> | |||
</jmolCheckbox> | |||
</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/main_output.php?pdb_ID=1wiz ConSurf]. | |||
<div style="clear:both"></div> | |||
== References == | |||
<references/> | |||
__TOC__ | |||
</StructureSection> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: | [[Category: Large Structures]] | ||
[[Category: Hayashi | [[Category: Hayashi F]] | ||
[[Category: Inoue | [[Category: Inoue K]] | ||
[[Category: Kigawa | [[Category: Kigawa T]] | ||
[[Category: Nameki | [[Category: Nameki S]] | ||
[[Category: Yokoyama S]] | |||
[[Category: Yokoyama | |||