2gsb

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{{STRUCTURE_2gsb| PDB=2gsb | SCENE= }}
 
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===Solution structure of the second SH2 domain of human Ras GTPase-activating protein 1===
 
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==Disease==
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==Solution structure of the second SH2 domain of human Ras GTPase-activating protein 1==
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[[http://www.uniprot.org/uniprot/RASA1_HUMAN RASA1_HUMAN]] Note=Mutations in the SH2 domain of RASA seem to be oncogenic and cause basal cell carcinomas. Defects in RASA1 are the cause of capillary malformation-arteriovenous malformation (CMAVM) [MIM:[http://omim.org/entry/608354 608354]]. CMAVM is a disorder characterized by atypical capillary malformations that are multiple, small, round to oval in shape and pinkish red in color. These capillary malformations are associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome.<ref>PMID:14639529</ref> Defects in RASA1 are a cause of Parkes Weber syndrome (PKWS) [MIM:[http://omim.org/entry/608355 608355]]. PKWS is a disorder characterized by a cutaneous flush with underlying multiple micro-arteriovenous fistulas, in association with soft tissue and skeletal hypertrophy of the affected limb.
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<StructureSection load='2gsb' size='340' side='right'caption='[[2gsb]]' scene=''>
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== Structural highlights ==
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==Function==
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<table><tr><td colspan='2'>[[2gsb]] 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=2GSB OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2GSB FirstGlance]. <br>
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[[http://www.uniprot.org/uniprot/RASA1_HUMAN RASA1_HUMAN]] Inhibitory regulator of the Ras-cyclic AMP pathway. Stimulates the GTPase of normal but not oncogenic Ras p21; this stimulation may be further increased in the presence of NCK1.<ref>PMID:8360177</ref><ref>PMID:11389730</ref>
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</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</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=2gsb FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2gsb OCA], [https://pdbe.org/2gsb PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2gsb RCSB], [https://www.ebi.ac.uk/pdbsum/2gsb PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2gsb ProSAT], [https://www.topsan.org/Proteins/RSGI/2gsb TOPSAN]</span></td></tr>
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==About this Structure==
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</table>
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[[2gsb]] 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=2GSB OCA].
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== Disease ==
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[https://www.uniprot.org/uniprot/RASA1_HUMAN RASA1_HUMAN] Note=Mutations in the SH2 domain of RASA seem to be oncogenic and cause basal cell carcinomas. Defects in RASA1 are the cause of capillary malformation-arteriovenous malformation (CMAVM) [MIM:[https://omim.org/entry/608354 608354]. CMAVM is a disorder characterized by atypical capillary malformations that are multiple, small, round to oval in shape and pinkish red in color. These capillary malformations are associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome.<ref>PMID:14639529</ref> Defects in RASA1 are a cause of Parkes Weber syndrome (PKWS) [MIM:[https://omim.org/entry/608355 608355]. PKWS is a disorder characterized by a cutaneous flush with underlying multiple micro-arteriovenous fistulas, in association with soft tissue and skeletal hypertrophy of the affected limb.
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== Function ==
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[https://www.uniprot.org/uniprot/RASA1_HUMAN RASA1_HUMAN] Inhibitory regulator of the Ras-cyclic AMP pathway. Stimulates the GTPase of normal but not oncogenic Ras p21; this stimulation may be further increased in the presence of NCK1.<ref>PMID:8360177</ref> <ref>PMID:11389730</ref>
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== Evolutionary Conservation ==
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[[Image:Consurf_key_small.gif|200px|right]]
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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/gs/2gsb_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/main_output.php?pdb_ID=2gsb ConSurf].
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<div style="clear:both"></div>
==See Also==
==See Also==
*[[Ras GTPase activating protein|Ras GTPase activating protein]]
*[[Ras GTPase activating protein|Ras GTPase activating protein]]
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== References ==
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==Reference==
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<references/>
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<references group="xtra"/><references/>
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__TOC__
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Hayashi, F.]]
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[[Category: Large Structures]]
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[[Category: Kurosaki, C.]]
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[[Category: Hayashi F]]
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[[Category: RSGI, RIKEN Structural Genomics/Proteomics Initiative.]]
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[[Category: Kurosaki C]]
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[[Category: Suetake, T.]]
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[[Category: Suetake T]]
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[[Category: Yokoyma, S.]]
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[[Category: Yokoyma S]]
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[[Category: Yoshida, M.]]
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[[Category: Yoshida M]]
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[[Category: Gap]]
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[[Category: Gtpase-activating protein]]
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[[Category: National project on protein structural and functional analyse]]
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[[Category: Nppsfa]]
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[[Category: P120gap]]
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[[Category: Ras p21 protein activator]]
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[[Category: Rasgap]]
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[[Category: Riken structural genomics/proteomics initiative]]
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[[Category: Rsgi]]
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[[Category: Signaling protein]]
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[[Category: Structural genomic]]
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Current revision

Solution structure of the second SH2 domain of human Ras GTPase-activating protein 1

PDB ID 2gsb

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