MGP Database

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MGP002767

UniProt Annotations

Entry Information
Gene Namesodium channel, non voltage gated 1 beta subunit
Protein EntrySCNNB_HUMAN
UniProt IDP51168
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P51168-1; Sequence=Displayed; Name=2; IsoId=P51168-2; Sequence=VSP_007724;
DiseaseBronchiectasis with or without elevated sweat chloride 1 (BESC1) [MIM:211400]: 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:16207733, 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:15483078, ECO:0000269|PubMed:7550319, ECO:0000269|PubMed:8524790, ECO:0000269|PubMed:8601645, ECO:0000269|PubMed:9626162, ECO:0000269|PubMed:9794716}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseasePseudohypoaldosteronism 1, autosomal recessive (PHA1B) [MIM:264350]: A rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1B is a severe form involving multiple organ systems, and characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss. {ECO:0000269|PubMed:8589714}. Note=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). {ECO:0000269|PubMed:18634878}.
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}.
InteractionP46934:NEDD4; NbExp=4; IntAct=EBI-2547187, EBI-726944;
PtmN-glycosylated. {ECO:0000269|PubMed:24124190}.
PtmPhosphorylated on serine and threonine residues. {ECO:0000250}.
SimilarityBelongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1B 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). Interacts with BPIFA1; the interaction is direct. {ECO:0000269|PubMed:11244092, ECO:0000269|PubMed:12167593, ECO:0000269|PubMed:22493497, ECO:0000269|PubMed:24124190, ECO:0000269|PubMed:9169421}.
Tissue SpecificityExpressed in kidney (at protein level). {ECO:0000269|PubMed:22207244}.
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