6bqn
From Proteopedia
(Difference between revisions)
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<SX load='6bqn' size='340' side='right' viewer='molstar' caption='[[6bqn]], [[Resolution|resolution]] 3.90Å' scene=''> | <SX load='6bqn' size='340' side='right' viewer='molstar' caption='[[6bqn]], [[Resolution|resolution]] 3.90Å' scene=''> | ||
== Structural highlights == | == Structural highlights == | ||
| - | <table><tr><td colspan='2'>[[6bqn]] is a 7 chain structure with sequence from [ | + | <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=' | + | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Electron Microscopy, [[Resolution|Resolution]] 3.9Å</td></tr> |
| - | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[ | + | <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> |
</table> | </table> | ||
| + | == 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. | ||
<div style="background-color:#fffaf0;"> | <div style="background-color:#fffaf0;"> | ||
== Publication Abstract from PubMed == | == Publication Abstract from PubMed == | ||
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</div> | </div> | ||
<div class="pdbe-citations 6bqn" style="background-color:#fffaf0;"></div> | <div class="pdbe-citations 6bqn" style="background-color:#fffaf0;"></div> | ||
| + | |||
| + | ==See Also== | ||
| + | *[[Ion channels 3D structures|Ion channels 3D structures]] | ||
== References == | == References == | ||
<references/> | <references/> | ||
__TOC__ | __TOC__ | ||
</SX> | </SX> | ||
| - | [[Category: | + | [[Category: Homo sapiens]] |
[[Category: Large Structures]] | [[Category: Large Structures]] | ||
[[Category: Mus musculus]] | [[Category: Mus musculus]] | ||
| - | [[Category: Baconguis | + | [[Category: Baconguis I]] |
| - | [[Category: Bharadwaj | + | [[Category: Bharadwaj A]] |
| - | [[Category: Noreng | + | [[Category: Noreng S]] |
| - | [[Category: Posert | + | [[Category: Posert R]] |
| - | [[Category: Yoshioka | + | [[Category: Yoshioka C]] |
| - | + | ||
| - | + | ||
Current revision
Cryo-EM structure of ENaC
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