1byw

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{{STRUCTURE_1byw| PDB=1byw | SCENE= }}
 
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===STRUCTURE OF THE N-TERMINAL DOMAIN OF THE HUMAN-ERG POTASSIUM CHANNEL===
 
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{{ABSTRACT_PUBMED_9845367}}
 
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==Disease==
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==STRUCTURE OF THE N-TERMINAL DOMAIN OF THE HUMAN-ERG POTASSIUM CHANNEL==
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[[http://www.uniprot.org/uniprot/KCNH2_HUMAN KCNH2_HUMAN]] Defects in KCNH2 are the cause of long QT syndrome type 2 (LQT2) [MIM:[http://omim.org/entry/613688 613688]]. Long QT syndromes are heart disorders characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress. Deafness is often associated with LQT2.<ref>PMID:16361248</ref><ref>PMID:9600240</ref><ref>PMID:7889573</ref><ref>PMID:8914737</ref><ref>PMID:8635257</ref><ref>PMID:8877771</ref><ref>PMID:9024139</ref><ref>PMID:9693036</ref><ref>PMID:9544837</ref><ref>PMID:9452080</ref><ref>PMID:10086971</ref><ref>PMID:10220144</ref><ref>PMID:10187793</ref><ref>PMID:10517660</ref><ref>PMID:10735633</ref><ref>PMID:10973849</ref><ref>PMID:10862094</ref><ref>PMID:10753933</ref><ref>PMID:12062363</ref><ref>PMID:12354768</ref><ref>PMID:12621127</ref><ref>PMID:15051636</ref><ref>PMID:15840476</ref><ref>PMID:22314138</ref> Defects in KCNH2 are the cause of short QT syndrome type 1 (SQT1) [MIM:[http://omim.org/entry/609620 609620]]. Short QT syndromes are heart disorders characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. They cause syncope and sudden death.<ref>PMID:14676148</ref><ref>PMID:15828882</ref>
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<StructureSection load='1byw' size='340' side='right'caption='[[1byw]], [[Resolution|resolution]] 2.60&Aring;' scene=''>
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== Structural highlights ==
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==Function==
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<table><tr><td colspan='2'>[[1byw]] 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=1BYW OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1BYW FirstGlance]. <br>
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[[http://www.uniprot.org/uniprot/KCNH2_HUMAN KCNH2_HUMAN]] Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel. Channel properties are modulated by cAMP and subunit assembly. Mediates the rapidly activating component of the delayed rectifying potassium current in heart (IKr). Isoform 3 has no channel activity by itself, but modulates channel characteristics when associated with isoform 1.
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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]] 2.6&#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=1byw FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1byw OCA], [https://pdbe.org/1byw PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1byw RCSB], [https://www.ebi.ac.uk/pdbsum/1byw PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1byw ProSAT]</span></td></tr>
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==About this Structure==
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</table>
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[[1byw]] 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=1BYW OCA].
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== Disease ==
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[https://www.uniprot.org/uniprot/KCNH2_HUMAN KCNH2_HUMAN] Defects in KCNH2 are the cause of long QT syndrome type 2 (LQT2) [MIM:[https://omim.org/entry/613688 613688]. Long QT syndromes are heart disorders characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress. Deafness is often associated with LQT2.<ref>PMID:16361248</ref> <ref>PMID:9600240</ref> <ref>PMID:7889573</ref> <ref>PMID:8914737</ref> <ref>PMID:8635257</ref> <ref>PMID:8877771</ref> <ref>PMID:9024139</ref> <ref>PMID:9693036</ref> <ref>PMID:9544837</ref> <ref>PMID:9452080</ref> <ref>PMID:10086971</ref> <ref>PMID:10220144</ref> <ref>PMID:10187793</ref> <ref>PMID:10517660</ref> <ref>PMID:10735633</ref> <ref>PMID:10973849</ref> <ref>PMID:10862094</ref> <ref>PMID:10753933</ref> <ref>PMID:12062363</ref> <ref>PMID:12354768</ref> <ref>PMID:12621127</ref> <ref>PMID:15051636</ref> <ref>PMID:15840476</ref> <ref>PMID:22314138</ref> Defects in KCNH2 are the cause of short QT syndrome type 1 (SQT1) [MIM:[https://omim.org/entry/609620 609620]. Short QT syndromes are heart disorders characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. They cause syncope and sudden death.<ref>PMID:14676148</ref> <ref>PMID:15828882</ref>
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== Function ==
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[https://www.uniprot.org/uniprot/KCNH2_HUMAN KCNH2_HUMAN] Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel. Channel properties are modulated by cAMP and subunit assembly. Mediates the rapidly activating component of the delayed rectifying potassium current in heart (IKr). Isoform 3 has no channel activity by itself, but modulates channel characteristics when associated with isoform 1.
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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/by/1byw_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=1byw ConSurf].
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<div style="clear:both"></div>
==See Also==
==See Also==
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*[[Potassium Channel|Potassium Channel]]
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*[[Potassium channel 3D structures|Potassium channel 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:009845367</ref><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: Cabral, J H.M.]]
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[[Category: Large Structures]]
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[[Category: Lee, A.]]
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[[Category: Cabral JHM]]
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[[Category: Mackinnon, R.]]
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[[Category: Lee A]]
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[[Category: Membrane protein]]
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[[Category: Mackinnon R]]
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[[Category: Pas domain]]
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[[Category: Potassium channel domain]]
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Current revision

STRUCTURE OF THE N-TERMINAL DOMAIN OF THE HUMAN-ERG POTASSIUM CHANNEL

PDB ID 1byw

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