Epithelial sodium channel subunit gamma

UniProt P51170 Organism Homo sapiens Gene SCNN1G

Also known as: SCNN1G

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

bronchiectasis with or without elevated sweat chloride 3 MONDO:0013112
Liddle syndrome 2 MONDO:0020854
pseudohypoaldosteronism, type IB3, autosomal recessive MONDO:0859318

Drugs targeting this protein · 3

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

Epithelial sodium channel subunit beta 20 shared papers
Epithelial sodium channel subunit alpha 13 shared papers
Epithelial sodium channel subunit delta 3 shared papers
Epithelial sodium channel subunit alpha 1 shared papers
BPI fold-containing family A member 1 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
Epithelial sodium channel subunit gamma 1 shared papers

Literature · 27 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
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
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
Could a defective epithelial sodium channel lead to bronchiectasis. Respir. Res. · 2008
A novel epithelial sodium channel gamma-subunit de novo frameshift mutation leads to Liddle syndrome. Clin. Endocrinol. (Oxf.) · 2007
Nedd4-2 catalyzes ubiquitination and degradation of cell surface ENaC. J. Biol. Chem. · 2007
The consensus coding sequences of human breast and colorectal cancers. Science · 2006
Delta-subunit confers novel biophysical features to alpha beta gamma-human epithelial sodium channel (ENaC) via a physical interaction. J. Biol. Chem. · 2006
… and 15 more in the literature graph

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