3ksy: Difference between revisions

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{{Seed}}
[[Image:3ksy.png|left|200px]]


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==Crystal structure of the Histone domain, DH-PH unit, and catalytic unit of the Ras activator Son of Sevenless (SOS)==
The line below this paragraph, containing "STRUCTURE_3ksy", creates the "Structure Box" on the page.
<StructureSection load='3ksy' size='340' side='right'caption='[[3ksy]], [[Resolution|resolution]] 3.18&Aring;' scene=''>
You may change the PDB parameter (which sets the PDB file loaded into the applet)  
== Structural highlights ==
or the SCENE parameter (which sets the initial scene displayed when the page is loaded),
<table><tr><td colspan='2'>[[3ksy]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3KSY OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=3KSY FirstGlance]. <br>
or leave the SCENE parameter empty for the default display.
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 3.178&#8491;</td></tr>
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=3ksy FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3ksy OCA], [https://pdbe.org/3ksy PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=3ksy RCSB], [https://www.ebi.ac.uk/pdbsum/3ksy PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=3ksy ProSAT]</span></td></tr>
{{STRUCTURE_3ksy| PDB=3ksy |  SCENE= }}
</table>
== Disease ==
[https://www.uniprot.org/uniprot/SOS1_HUMAN SOS1_HUMAN] Defects in SOS1 are the cause of gingival fibromatosis 1 (GGF1) [MIM:[https://omim.org/entry/135300 135300]; also known as GINGF1. Gingival fibromatosis is a rare overgrowth condition characterized by a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular keratinized gingiva. GGF1 is usually transmitted as an autosomal dominant trait, although sporadic cases are common.<ref>PMID:11868160</ref>  Defects in SOS1 are the cause of Noonan syndrome type 4 (NS4) [MIM:[https://omim.org/entry/610733 610733]. NS4 is an autosomal dominant disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis. It is a genetically heterogeneous and relatively common syndrome, with an estimated incidence of 1 in 1000-2500 live births. Rarely, NS4 is associated with juvenile myelomonocytic leukemia (JMML). SOS1 mutations engender a high prevalence of pulmonary valve disease; atrial septal defects are less common.<ref>PMID:17143285</ref> <ref>PMID:17143282</ref> <ref>PMID:19020799</ref> <ref>PMID:19438935</ref> <ref>PMID:20683980</ref> <ref>PMID:20673819</ref> <ref>PMID:19953625</ref> <ref>PMID:21387466</ref>
== Function ==
[https://www.uniprot.org/uniprot/SOS1_HUMAN SOS1_HUMAN] Promotes the exchange of Ras-bound GDP by GTP.
== 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/ks/3ksy_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=3ksy ConSurf].
<div style="clear:both"></div>


===Crystal structure of the Histone domain, DH-PH unit, and catalytic unit of the Ras activator Son of Sevenless (SOS)===
==See Also==
 
*[[Son of sevenless 3D structures|Son of sevenless 3D structures]]
 
== References ==
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<references/>
The line below this paragraph, {{ABSTRACT_PUBMED_20133692}}, adds the Publication Abstract to the page
__TOC__
(as it appears on PubMed at http://www.pubmed.gov), where 20133692 is the PubMed ID number.
</StructureSection>
-->
{{ABSTRACT_PUBMED_20133692}}
 
==Disease==
Known disease associated with this structure: Fibromatosis, gingival OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182530 182530]], Noonan syndrome 4 OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182530 182530]], Noonan-like/multiple giant cell lesion syndrome OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182530 182530]]
 
==About this Structure==
3KSY is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3KSY OCA].
 
==Reference==
<ref group="xtra">PMID:20133692</ref><references group="xtra"/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Gureasko, J.]]
[[Category: Large Structures]]
[[Category: Kuchment, O.]]
[[Category: Gureasko J]]
[[Category: Kuriyan, J.]]
[[Category: Kuchment O]]
[[Category: Disease mutation]]
[[Category: Kuriyan J]]
[[Category: Guanine-nucleotide releasing factor]]
[[Category: Ra]]
[[Category: Ras activator]]
[[Category: Signaling protein]]
[[Category: Son of sevenless]]
[[Category: So]]
 
''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Wed Mar 24 08:29:44 2010''
Retrieved from "https://proteopedia.org/3ksy"