View source for 6bqn


==Cryo-EM structure of ENaC==
<SX load='6bqn' size='340' side='right' viewer='molstar' caption='[[6bqn]], [[Resolution|resolution]] 3.90&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[6bqn]] is a 7 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens] and [https://en.wikipedia.org/wiki/Mus_musculus Mus musculus]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6BQN OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=6BQN FirstGlance]. <br>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Electron Microscopy, [[Resolution|Resolution]] 3.9&#8491;</td></tr>
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=6bqn FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6bqn OCA], [https://pdbe.org/6bqn PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=6bqn RCSB], [https://www.ebi.ac.uk/pdbsum/6bqn PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=6bqn ProSAT]</span></td></tr>
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== Disease ==
[https://www.uniprot.org/uniprot/SCNNA_HUMAN SCNNA_HUMAN] Idiopathic bronchiectasis;Generalized pseudohypoaldosteronism type 1. The disease is caused by mutations affecting the gene represented in this entry. The degree of channel function impairment differentially affects the renin-aldosterone system and urinary Na/K ratios, resulting in distinct genotype-phenotype relationships in PHA1 patients. Loss-of-function mutations are associated with a severe clinical course and age-dependent hyperactivation of the renin-aldosterone system. This feature is not observed in patients with missense mutations that reduce but do not eliminate channel function. Markedly reduced channel activity results in impaired linear growth and delayed puberty (PubMed:18634878).  The disease is caused by mutations affecting the gene represented in this entry.
== Function ==
[https://www.uniprot.org/uniprot/SCNNA_HUMAN SCNNA_HUMAN] Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception.
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== Publication Abstract from PubMed ==
The epithelial sodium channel (ENaC), a member of the ENaC/DEG superfamily, regulates Na(+) and water homeostasis. ENaCs assemble as heterotrimeric channels that harbor protease-sensitive domains critical for gating the channel. Here, we present the structure of human ENaC in the uncleaved state determined by single-particle cryo-electron microscopy. The ion channel is composed of a large extracellular domain and a narrow transmembrane domain. The structure reveals that ENaC assembles with a 1:1:1 stoichiometry of alpha:beta:gamma subunits arranged in a counter-clockwise manner. The shape of each subunit is reminiscent of a hand with key gating domains of a 'finger' and a 'thumb.' Wedged between these domains is the elusive protease-sensitive inhibitory domain poised to regulate conformational changes of the 'finger' and 'thumb'; thus, the structure provides the first view of the architecture of inhibition of ENaC.

Structure of the human epithelial sodium channel by cryo-electron microscopy.,Noreng S, Bharadwaj A, Posert R, Yoshioka C, Baconguis I Elife. 2018 Sep 25;7. pii: 39340. doi: 10.7554/eLife.39340. PMID:30251954<ref>PMID:30251954</ref>

From MEDLINE&reg;/PubMed&reg;, a database of the U.S. National Library of Medicine.<br>
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<div class="pdbe-citations 6bqn" style="background-color:#fffaf0;"></div>

==See Also==
*[[Ion channels 3D structures|Ion channels 3D structures]]
== References ==
<references/>
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[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Mus musculus]]
[[Category: Baconguis I]]
[[Category: Bharadwaj A]]
[[Category: Noreng S]]
[[Category: Posert R]]
[[Category: Yoshioka C]]