SCNN1B

Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009]

Full Name

SCNN1B

Function

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. 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.

Biological Process

Biological Process aldosterone metabolic processIEA:Ensembl
Biological Process artery smooth muscle contractionIEA:Ensembl
Biological Process cellular response to acidic pHManual Assertion Based On ExperimentIDA:ComplexPortal
Biological Process cellular response to aldosterone1 PublicationIC:ComplexPortal
Biological Process cellular response to amilorideManual Assertion Based On ExperimentIDA:ComplexPortal
Biological Process cellular response to vasopressin1 PublicationIC:ComplexPortal
Biological Process cellular sodium ion homeostasisManual Assertion Based On ExperimentIDA:ComplexPortal
Biological Process epithelial fluid transportIEA:Ensembl
Biological Process erythrocyte homeostasisIEA:Ensembl
Biological Process gene expressionIEA:Ensembl
Biological Process leukocyte activation involved in inflammatory responseIEA:Ensembl
Biological Process mucus secretionIEA:Ensembl
Biological Process multicellular organism growthIEA:Ensembl
Biological Process multicellular organismal water homeostasisManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process neutrophil activation involved in immune responseIEA:Ensembl
Biological Process neutrophil-mediated killing of bacteriumIEA:Ensembl
Biological Process potassium ion homeostasisIEA:Ensembl
Biological Process regulation of blood pressure1 PublicationIC:ComplexPortal
Biological Process response to foodIEA:Ensembl
Biological Process response to xenobiotic stimulusIEA:Ensembl
Biological Process sensory perception of salty taste1 PublicationIC:ComplexPortal
Biological Process sensory perception of sour taste1 PublicationIC:ComplexPortal
Biological Process sodium ion homeostasisManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process sodium ion import across plasma membraneManual Assertion Based On ExperimentIDA:ComplexPortal
Biological Process sodium ion transmembrane transportManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process sodium ion transportManual Assertion Based On ExperimentTAS:ProtInc
Biological Process urea homeostasisIEA:Ensembl

Cellular Location

Apical cell membrane
Cytoplasmic vesicle membrane
Apical membrane of epithelial cells.

Involvement in disease

Pseudohypoaldosteronism 1, autosomal recessive (PHA1B):
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.
Liddle syndrome 1 (LIDLS1):
A form of Liddle syndrome, an autosomal dominant disorder characterized by early onset of hypertension, hypokalemic alkalosis, and suppression of plasma renin activity and aldosterone secretion.
Bronchiectasis with or without elevated sweat chloride 1 (BESC1):
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.

Topology

Cytoplasmic: 1-50
Helical: 51-71
Extracellular: 72-532
Helical: 533-553
Cytoplasmic: 554-640

PTM

Phosphorylated on serine and threonine residues. Aldosterone and insulin increase the basal level of phosphorylation.
N-glycosylated. N-glycosylation is required for interaction with BPIFA1.