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SCNN1A sodium channel, non-voltage-gated 1 alpha subunit [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001038 Homo sapiens sodium channel, non-voltage-gated 1 alpha subunit (SCNN1A), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $849.00 20
NM_001159575 Homo sapiens sodium channel, non-voltage-gated 1 alpha subunit (SCNN1A), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand TBD TBD
NM_001159576 Homo sapiens sodium channel, non-voltage-gated 1 alpha subunit (SCNN1A), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand TBD TBD

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Gene Symbol SCNN1A
Entrez Gene ID 6337
Full Name sodium channel, non-voltage-gated 1 alpha subunit
Synonyms BESC2, ENaCa, ENaCalpha, SCNEA, SCNN1
General protein information
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

12

12p13

Summary 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 alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009].
Disorder

MIM: 600228

Pseudohypoaldosteronism, type I, 264350 (3); Bronchiectasis with

mRNA Protein Product Sequence Price Select
NM_001038, 227430285 NP_001029, 4506815 amiloride-sensitive sodium channel subunit alpha isoform 1 ORF Sequence $700.00
NM_001159575, 227430286 NP_001153047, 227430287 amiloride-sensitive sodium channel subunit alpha isoform 3 ORF Sequence $700.00
NM_001159576, 227430288 NP_001153048, 227430289 amiloride-sensitive sodium channel subunit alpha isoform 2 ORF Sequence $700.00
KEGG
hsa04742Taste transduction
hsa04960Aldosterone-regulated sodium reabsorption
Reactome
REACT_15518Transmembrane transport of small molecules
REACT_25300Ion channel transport
REACT_160189Stimuli-sensing channels
Homo sapiens (human)SCNN1ANP_001153047.1
Pan troglodytes (chimpanzee)SCNN1AXP_508948.4
Macaca mulatta (Rhesus monkey)SCNN1AXP_001103017.2
Canis lupus familiaris (dog)SCNN1AXP_005637310.1
Bos taurus (cattle)SCNN1ANP_777023.1
Mus musculus (house mouse)Scnn1aNP_035454.2
Rattus norvegicus (Norway rat)Scnn1aNP_113736.1
Gallus gallus (chicken)SCNN1ANP_990476.2
Xenopus (Silurana) tropicalis (western clawed frog)scnn1aNP_001184124.1
Process
IDNameEvidence
GO:0006814sodium ion transportTAS
GO:0007588excretionTAS
GO:0034220ion transmembrane transportTAS
GO:0035725sodium ion transmembrane transportIDA
GO:0050891multicellular organismal water homeostasisIDA
GO:0050896response to stimulusIEA
GO:0050909sensory perception of tasteIEA
GO:0055078sodium ion homeostasisIDA
GO:0055085transmembrane transportTAS
Component
IDNameEvidence
GO:0005829cytosolIEA
GO:0005886plasma membraneTAS
GO:0005887integral component of plasma membraneIDA
GO:0009897external side of plasma membraneIEA
GO:0016324apical plasma membraneIDA
GO:0030864cortical actin cytoskeletonIEA
GO:0031514motile ciliumIDA
GO:0034706sodium channel complexIDA
GO:0060170ciliary membraneIDA
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0003779actin bindingIEA
GO:0005515protein bindingIPI
GO:0015280ligand-gated sodium channel activityIDA
GO:0050699WW domain bindingIPI
GeneCards SCNN1A
UniProt P37088
Vega OTTHUMG00000168268
MIM 600228
Ensembl ENSG00000111319
HGNC 10599
HPRD 02575

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the SCNN1A gene?

The SCNN1A gene provides instructions for making one piece, the alpha subunit, of a protein complex called the epithelial sodium channel (ENaC). The channel is composed of alpha, beta, and gamma subunits, each of which is produced from a different gene. These channels are found at the surface of certain cells called epithelial cells in many tissues of the body, including the kidneys, lungs, and sweat glands. The ENaC channel transports sodium into cells.

In the kidney, ENaC channels take sodium into cells in response to signals that sodium levels in the body are too low. From the kidney cells, this sodium is returned to the bloodstream rather than being removed from the body (a process called reabsorption). In addition to regulating the amount of sodium in the body, the flow of sodium ions helps control the movement of water in tissues. For example, ENaC channels in lung cells help regulate the amount of fluid in the lungs.

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