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MGP002769

UniProt Annotations

Entry Information
Gene Namesodium channel, non voltage gated 1 gamma subunit
Protein EntrySCNNG_HUMAN
UniProt IDP51170
SpeciesHuman
Comments
Comment typeDescription
DiseaseBronchiectasis with or without elevated sweat chloride 3 (BESC3) [MIM:613071]: A debilitating respiratory disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases. {ECO:0000269|PubMed:18507830, ECO:0000269|PubMed:19017867}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseLiddle syndrome (LIDDS) [MIM:177200]: Autosomal dominant disorder characterized by pseudoaldosteronism and hypertension associated with hypokalemic alkalosis. The disease is caused by constitutive activation of the renal epithelial sodium channel. {ECO:0000269|PubMed:7550319}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationActivated by WNK1, WNK2, WNK3 and WNK4. {ECO:0000250}.
FunctionSodium 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. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception. {ECO:0000269|PubMed:24124190}.
PtmENaC cleavage by furin, and subsequently by prostasin (PRSS8), leads to a stepwise increase in the open probability of the channel as a result of release of the alpha and gamma subunit inhibitory tracts, respectively. Interaction of ENaC subunit SCNN1B with BPIFA1 protects ENaC against proteolytic activation. {ECO:0000269|PubMed:18650438, ECO:0000269|PubMed:24124190}.
PtmPhosphorylated on serine and threonine residues. {ECO:0000250}.
PtmUbiquitinated; this targets individual subunits for endocytosis and proteasome-mediated degradation. {ECO:0000250}.
SimilarityBelongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1G subfamily. {ECO:0000305}.
Subcellular LocationApical cell membrane {ECO:0000269|PubMed:24124190}; Multi-pass membrane protein {ECO:0000269|PubMed:24124190}. Note=Apical membrane of epithelial cells.
SubunitProbable heterotrimer containing one alpha, one beta and one gamma subunit. A delta subunit can replace the alpha subunit. Interacts with the WW domains of NEDD4, NEDD4L, WWP1 and WWP2. Interacts with the full length immature form of PCSK9 (pro-PCSK9) (By similarity). {ECO:0000250}.
Tissue SpecificityExpressed in kidney (at protein level). {ECO:0000269|PubMed:22207244}.
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