Epithelial sodium channel subunit beta

UniProt P51168 Organism Homo sapiens Gene SCNN1B

Also known as: SCNN1B

Function

This is one of the three pore-forming subunits of the heterotrimeric epithelial sodium channel (ENaC), a critical regulator of sodium balance and fluid homeostasis. ENaC operates in epithelial tissues, where it mediates the electrodiffusion of sodium ions from extracellular fluid through the apical membrane of cells, with water following osmotically. It plays a key role in maintaining sodium homeostasis through electrogenic sodium reabsorption in the kidneys. Additionally, ENaC is essential for airway surface liquid homeostasis, which is crucial for proper mucus clearance.

Classification

Family (Pfam): PF00858 ASC
InterPro: ENaC, ENaC_chordates, ENaC_CS
Functional cluster: Immunoglobulin-Domain Cell Adhesion Proteins

Experimental structures · PDB · 5

6BQN EM 3.90A
6WTH EM 3.06A
9BLR EM 3.38A
9BTG EM 3.12A
9BTU EM 3.68A

A predicted model is available from AlphaFold.

Gene Ontology · 19

Disease associations

Liddle syndrome 1 MONDO:0020607
bronchiectasis with or without elevated sweat chloride 1 MONDO:0008887
pseudohypoaldosteronism, type IB2, autosomal recessive MONDO:0859317

Drugs targeting this protein · 3

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

Epithelial sodium channel subunit gamma 20 shared papers
Epithelial sodium channel subunit alpha 18 shared papers
BPI fold-containing family A member 1 2 shared papers
Epithelial sodium channel subunit delta 3 shared papers
Epithelial sodium channel subunit alpha 1 shared papers
Mineralocorticoid receptor 1 shared papers
NEDD4-like E3 ubiquitin-protein ligase WWP2 2 shared papers
Epithelial sodium channel subunit alpha 2 shared papers
Proprotein convertase subtilisin/kexin type 9 1 shared papers
WW domain-binding protein 1 1 shared papers
Epithelial sodium channel subunit beta 1 shared papers
WW domain-binding protein 2 1 shared papers

Literature · 40 cited papers

Molecular principles of assembly, activation, and inhibition in epithelial sodium channel. Elife · 2020
Structure of the human epithelial sodium channel by cryo-electron microscopy. Elife · 2018
Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases. Gene · 2016
Identification of the SPLUNC1 ENaC-inhibitory domain yields novel strategies to treat sodium hyperabsorption in cystic fibrosis airway epithelial cultures. Am. J. Physiol. · 2013
Molecular basis for pH-dependent mucosal dehydration in cystic fibrosis airways. Proc. Natl. Acad. Sci. U.S.A. · 2013
Regulation of epithelial sodium channel trafficking by proprotein convertase subtilisin/kexin type 9 (PCSK9). J. Biol. Chem. · 2012
Epithelial sodium channels (ENaC) are uniformly distributed on motile cilia in the oviduct and the respiratory airways. Histochem. Cell Biol. · 2012
Truncated beta epithelial sodium channel (ENaC) subunits responsible for multi-system pseudohypoaldosteronism support partial activity of ENaC. J. Steroid Biochem. Mol. Biol. · 2010
Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants. Chest · 2009
Renin-aldosterone response, urinary Na/K ratio and growth in pseudohypoaldosteronism patients with mutations in epithelial sodium channel (ENaC) subunit genes. J. Steroid Biochem. Mol. Biol. · 2008
Could a defective epithelial sodium channel lead to bronchiectasis. Respir. Res. · 2008
Nedd4-2 induces endocytosis and degradation of proteolytically cleaved epithelial Na+ channels. J. Biol. Chem. · 2008
… and 28 more in the literature graph

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