1y9r

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{{Seed}}
 
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[[Image:1y9r.png|left|200px]]
 
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==Crystal structure of the human mineralocorticoid receptor ligand-binding domain bound to deoxycorticosterone and harboring the S810L mutation responsible for a severe form of hypertension==
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The line below this paragraph, containing "STRUCTURE_1y9r", creates the "Structure Box" on the page.
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<StructureSection load='1y9r' size='340' side='right'caption='[[1y9r]], [[Resolution|resolution]] 1.96&Aring;' scene=''>
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== Structural highlights ==
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or the SCENE parameter (which sets the initial scene displayed when the page is loaded),
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<table><tr><td colspan='2'>[[1y9r]] is a 2 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=1Y9R OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1Y9R FirstGlance]. <br>
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</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 1.96&#8491;</td></tr>
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<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=1CA:DESOXYCORTICOSTERONE'>1CA</scene></td></tr>
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{{STRUCTURE_1y9r| PDB=1y9r | SCENE= }}
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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=1y9r FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1y9r OCA], [https://pdbe.org/1y9r PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1y9r RCSB], [https://www.ebi.ac.uk/pdbsum/1y9r PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1y9r ProSAT]</span></td></tr>
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</table>
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== Disease ==
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[https://www.uniprot.org/uniprot/MCR_HUMAN MCR_HUMAN] Defects in NR3C2 are a cause of pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:[https://omim.org/entry/177735 177735]. A salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1A is a mild form characterized by target organ defects confined to kidney. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment.<ref>PMID:9662404</ref> <ref>PMID:11134129</ref> <ref>PMID:12788847</ref> <ref>PMID:16954160</ref> <ref>PMID:16972228</ref> Defects in NR3C2 are a cause of early-onset hypertension with severe exacerbation in pregnancy (EOHSEP) [MIM:[https://omim.org/entry/605115 605115]. Inheritance is autosomal dominant. The disease is characterized by the onset of severe hypertension before the age of 20, and by suppression of aldosterone secretion.<ref>PMID:9662404</ref> <ref>PMID:15967794</ref> <ref>PMID:15908963</ref> <ref>PMID:10884226</ref>
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== Function ==
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[https://www.uniprot.org/uniprot/MCR_HUMAN MCR_HUMAN] Receptor for both mineralocorticoids (MC) such as aldosterone and glucocorticoids (GC) such as corticosterone or cortisol. Binds to mineralocorticoid response elements (MRE) and transactivates target genes. The effect of MC is to increase ion and water transport and thus raise extracellular fluid volume and blood pressure and lower potassium levels.<ref>PMID:3037703</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/y9/1y9r_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=1y9r ConSurf].
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<div style="clear:both"></div>
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===Crystal structure of the human mineralocorticoid receptor ligand-binding domain bound to deoxycorticosterone and harboring the S810L mutation responsible for a severe form of hypertension===
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==See Also==
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*[[Mineralocorticoid receptor|Mineralocorticoid receptor]]
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== References ==
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<references/>
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The line below this paragraph, {{ABSTRACT_PUBMED_15908963}}, adds the Publication Abstract to the page
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__TOC__
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(as it appears on PubMed at http://www.pubmed.gov), where 15908963 is the PubMed ID number.
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</StructureSection>
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{{ABSTRACT_PUBMED_15908963}}
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==About this Structure==
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1Y9R is a [[Single protein]] structure of 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=1Y9R OCA].
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==Reference==
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Crystal structure of a mutant mineralocorticoid receptor responsible for hypertension., Fagart J, Huyet J, Pinon GM, Rochel M, Mayer C, Rafestin-Oblin ME, Nat Struct Mol Biol. 2005 Jun;12(6):554-5. Epub 2005 May 22. PMID:[http://www.ncbi.nlm.nih.gov/pubmed/15908963 15908963]
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[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Single protein]]
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[[Category: Large Structures]]
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[[Category: Fagart, J.]]
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[[Category: Fagart J]]
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[[Category: Huyet, J.]]
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[[Category: Huyet J]]
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[[Category: Mayer, C.]]
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[[Category: Mayer C]]
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[[Category: Pinon, G M.]]
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[[Category: Pinon GM]]
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[[Category: Rafestin-Oblin, M E.]]
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[[Category: Rafestin-Oblin ME]]
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[[Category: Rochel, M.]]
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[[Category: Rochel M]]
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[[Category: Activating mutation]]
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[[Category: Hypertension]]
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[[Category: Mineralocorticoid receptor]]
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[[Category: Nuclear recept]]
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[[Category: Steroid receptor]]
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[[Category: Transcription regulation]]
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''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Tue Jul 29 09:00:44 2008''
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Current revision

Crystal structure of the human mineralocorticoid receptor ligand-binding domain bound to deoxycorticosterone and harboring the S810L mutation responsible for a severe form of hypertension

PDB ID 1y9r

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