SCNN1D

SCNN1D
Identifiers
Aliases	SCNN1D, ENaCd, ENaCdelta, SCNED, dNaCh, sodium channel epithelial 1 delta subunit
External IDs	HomoloGene: 48152 GeneCards: SCNN1D
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 transmembrane transport • ion transport • sensory perception of taste • response to stimulus • sodium ion transport • transport • sodium ion transmembrane transport Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	6339	n/a
Ensembl	ENSG00000162572	n/a
UniProt	P51172	n/a
RefSeq (mRNA)	NM_001130413 NM_002978	n/a
RefSeq (protein)	NP_001123885	n/a
Location (UCSC)	Chr 1: 1.28 – 1.29 Mb	n/a
PubMed search		n/a

6339

n/a

ENSG00000162572

n/a

P51172

n/a

NM_001130413
NM_002978

n/a

NP_001123885

n/a

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. 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. 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.

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

The first cDNA encoding the delta subunit of ENaC was cloned and sequenced by Waldmann et al. from human kidney mRNA.

The sequence of the SCNN1D gene was first revealed by the human genome project. SCNN1D is located in the short arm of chromosome 1 (Ensembl database code: ENSG00000162572) and starts at nucleotide 1,280,436 on the forward strand. Its length is about 11,583 bp. The gene encodes several alternative transcripts with different transcription and translation initiation sites (see Fig. 1 below). In mRNA samples from human brain, alternative splicing products have been detected, cloned and characterized.

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