SCNN1D

SCNN1D
Identifiers
Aliases	SCNN1D, ENaCd, ENaCdelta, SCNED, dNaCh, sodium channel epithelial 1 delta subunit, sodium channel epithelial 1 subunit delta
External IDs	OMIM: 601328; HomoloGene: 48152; GeneCards: SCNN1D; OMA:SCNN1D - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	1,292,029 bp
RNA expression pattern
	Top expressed in
	right hemisphere of cerebellum; ; right testis; ; left testis; ; right uterine tube; ; right frontal lobe; ; apex of heart; ; anterior pituitary; ; left ovary; ; right ovary; ; cingulate gyrus;
	n/a
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	ligand-gated sodium channel activity; sodium channel activity; protein binding;
Cellular component	integral component of membrane; plasma membrane; membrane; actin cytoskeleton;
Biological process	ion transport; sensory perception of taste; response to stimulus; sodium ion transport; sodium ion transmembrane transport; ion transmembrane transport;
	Sources:Amigo / QuickGO
Orthologs
	6339
	n/a
	ENSG00000162572
	n/a
	P51172
	n/a
	NM_001130413; NM_002978
	n/a
	NP_001123885
	n/a
	Wikidata
View/Edit Human

The SCNN1D gene encodes for the δ (delta) subunit of the epithelial sodium channel ENaC in vertebrates. ENaC is assembled as a heterotrimer composed of three homologous subunits α, β, and γ or δ, β, and γ.^[3] The other ENAC subunits are encoded by SCNN1A, SCNN1B, and SCNN1G.

ENaC is expressed in epithelial cells and is different from the voltage-gated sodium channel that is involved in the generation of action potentials in neurons. The abbreviation for the genes encoding for voltage-gated sodium channel starts with three letters: SCN. In contrast to these sodium channels, ENaC is constitutively active and is not voltage-dependent. The second N in the abbreviation (SCNN1D) represents that these are NON-voltage-gated channels.

In most vertebrates, sodium ions are the major determinant of the osmolarity of the extracellular fluid.^[4] ENaC allows transfer of sodium ions across the epithelial cell membrane in so-called "tight-epithelia" that have low permeability. The flow of sodium ions across epithelia affects osmolarity of the extracellular fluid. Thus, ENaC plays a central role in the regulation of body fluid and electrolyte homeostasis and consequently affects blood pressure.^[5]

As ENaC is strongly inhibited by amiloride, it is also referred to as an "amiloride-sensitive sodium channel".

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000162572 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Hanukoglu I, Hanukoglu A (January 2016). "Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases". Gene. 579 (2): 95–132. doi:10.1016/j.gene.2015.12.061. PMC 4756657. PMID 26772908.
^ Bourque CW (July 2008). "Central mechanisms of osmosensation and systemic osmoregulation". Nature Reviews. Neuroscience. 9 (7): 519–31. doi:10.1038/nrn2400. PMID 18509340. S2CID 205504313.
^ Rossier BC, Baker ME, Studer RA (January 2015). "Epithelial sodium transport and its control by aldosterone: the story of our internal environment revisited". Physiological Reviews. 95 (1): 297–340. doi:10.1152/physrev.00011.2014. PMID 25540145.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000162572 – Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[2016-Hanukoglu-3] Hanukoglu I, Hanukoglu A (January 2016). "Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases". Gene. 579 (2): 95–132. doi:10.1016/j.gene.2015.12.061. PMC 4756657. PMID 26772908.

[4] Bourque CW (July 2008). "Central mechanisms of osmosensation and systemic osmoregulation". Nature Reviews. Neuroscience. 9 (7): 519–31. doi:10.1038/nrn2400. PMID 18509340. S2CID 205504313.

[2015-Rossier-5] Rossier BC, Baker ME, Studer RA (January 2015). "Epithelial sodium transport and its control by aldosterone: the story of our internal environment revisited". Physiological Reviews. 95 (1): 297–340. doi:10.1152/physrev.00011.2014. PMID 25540145.

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