2kav

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[[Image:2kav.png|left|200px]]
 
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==Solution structure of the human Voltage-gated Sodium Channel, brain isoform (Nav1.2)==
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The line below this paragraph, containing "STRUCTURE_2kav", creates the "Structure Box" on the page.
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<StructureSection load='2kav' size='340' side='right'caption='[[2kav]]' scene=''>
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You may change the PDB parameter (which sets the PDB file loaded into the applet)
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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'>[[2kav]] 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=2KAV OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2KAV FirstGlance]. <br>
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or leave the SCENE parameter empty for the default display.
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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=2kav FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2kav OCA], [https://pdbe.org/2kav PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2kav RCSB], [https://www.ebi.ac.uk/pdbsum/2kav PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2kav ProSAT]</span></td></tr>
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{{STRUCTURE_2kav| PDB=2kav | SCENE= }}
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</table>
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== Disease ==
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[https://www.uniprot.org/uniprot/SCN2A_HUMAN SCN2A_HUMAN] Defects in SCN2A are the cause of seizures, benign familial infantile type 3 (BFIS3) [MIM:[https://omim.org/entry/607745 607745]. An autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae.<ref>PMID:11371648</ref> <ref>PMID:12243921</ref> <ref>PMID:15048894</ref> <ref>PMID:20371507</ref> Defects in SCN2A are the cause of epileptic encephalopathy early infantile type 11 (EIEE11) [MIM:[https://omim.org/entry/613721 613721]. EIEE11 is an autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities.<ref>PMID:19786696</ref> <ref>PMID:20956790</ref>
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== Function ==
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[https://www.uniprot.org/uniprot/SCN2A_HUMAN SCN2A_HUMAN] Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient.
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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/ka/2kav_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=2kav ConSurf].
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<div style="clear:both"></div>
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<div style="background-color:#fffaf0;">
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== Publication Abstract from PubMed ==
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Voltage-gated sodium channels initiate the rapid upstroke of action potentials in many excitable tissues. Mutations within intracellular C-terminal sequences of specific channels underlie a diverse set of channelopathies, including cardiac arrhythmias and epilepsy syndromes. The three-dimensional structure of the C-terminal residues 1777-1882 of the human NaV1.2 voltage-gated sodium channel has been determined in solution by NMR spectroscopy at pH 7.4 and 290.5 K. The ordered structure extends from residues Leu-1790 to Glu-1868 and is composed of four alpha-helices separated by two short anti-parallel beta-strands; a less well defined helical region extends from residue Ser-1869 to Arg-1882, and a disordered N-terminal region encompasses residues 1777-1789. Although the structure has the overall architecture of a paired EF-hand domain, the NaV1.2 C-terminal domain does not bind Ca2+ through the canonical EF-hand loops, as evidenced by monitoring 1H,15N chemical shifts during aCa2+ titration. Backbone chemical shift resonance assignments and Ca2+ titration also were performed for the NaV1.5 (1773-1878) isoform, demonstrating similar secondary structure architecture and the absence of Ca2+ binding by the EF-hand loops. Clinically significant mutations identified in the C-terminal region of NaV1 sodium channels cluster in the helix I-IV interface and the helix II-III interhelical segment or in helices III and IV of the NaV1.2 (1777-1882) structure.
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===Solution structure of the human Voltage-gated Sodium Channel, brain isoform (Nav1.2)===
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Solution structure of the NaV1.2 C-terminal EF-hand domain.,Miloushev VZ, Levine JA, Arbing MA, Hunt JF, Pitt GS, Palmer AG 3rd J Biol Chem. 2009 Mar 6;284(10):6446-54. Epub 2009 Jan 7. PMID:19129176<ref>PMID:19129176</ref>
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From MEDLINE&reg;/PubMed&reg;, a database of the U.S. National Library of Medicine.<br>
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</div>
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The line below this paragraph, {{ABSTRACT_PUBMED_19129176}}, adds the Publication Abstract to the page
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<div class="pdbe-citations 2kav" style="background-color:#fffaf0;"></div>
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(as it appears on PubMed at http://www.pubmed.gov), where 19129176 is the PubMed ID number.
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{{ABSTRACT_PUBMED_19129176}}
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==About this Structure==
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[[2kav]] is a 1 chain structure of [[Ion channels]] 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=2KAV OCA].
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==See Also==
==See Also==
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*[[Ion channels]]
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*[[Ion channels 3D structures|Ion channels 3D structures]]
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== References ==
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==Reference==
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<references/>
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<ref group="xtra">PMID:19129176</ref><references group="xtra"/>
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__TOC__
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Arbing, M A.]]
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[[Category: Large Structures]]
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[[Category: Hunt, J F.]]
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[[Category: Arbing MA]]
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[[Category: Levine, J A.]]
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[[Category: Hunt JF]]
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[[Category: Miloushev, V Z.]]
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[[Category: Levine JA]]
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[[Category: Palmer, A G.]]
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[[Category: Miloushev VZ]]
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[[Category: Pitt, G S.]]
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[[Category: Palmer AG]]
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[[Category: Alternative splicing]]
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[[Category: Pitt GS]]
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[[Category: Disease mutation]]
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[[Category: Epilepsy]]
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[[Category: Glycoprotein]]
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[[Category: Ion transport]]
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[[Category: Ionic channel]]
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[[Category: Membrane]]
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[[Category: Polymorphism]]
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[[Category: Sodium]]
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[[Category: Sodium channel]]
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[[Category: Sodium transport]]
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[[Category: Transmembrane]]
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[[Category: Transport]]
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[[Category: Transport protein]]
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[[Category: Transport protein regulator]]
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[[Category: Ubl conjugation]]
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[[Category: Voltage-gated channel]]
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[[Category: Voltage-gated sodium channel]]
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Current revision

Solution structure of the human Voltage-gated Sodium Channel, brain isoform (Nav1.2)

PDB ID 2kav

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