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


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu14485 NM_001159575 Homo sapiens sodium channel, non-voltage-gated 1 alpha subunit (SCNN1A), transcript variant 3, mRNA. pcDNA3.1+-DYK On-demand 12-14 $279.00
OHu14548 NM_001159576 Homo sapiens sodium channel, non-voltage-gated 1 alpha subunit (SCNN1A), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand 12-14 $279.00
OHu19374 NM_001038 Homo sapiens sodium channel, non-voltage-gated 1 alpha subunit (SCNN1A), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand 12-14 $279.00
OHu14485C NM_001159575 Homo sapiens sodium channel, non-voltage-gated 1 alpha subunit (SCNN1A), transcript variant 3, mRNA. Customized vector On-demand 12-14 $329.00
OHu14548C NM_001159576 Homo sapiens sodium channel, non-voltage-gated 1 alpha subunit (SCNN1A), transcript variant 2, mRNA. Customized vector On-demand 12-14 $329.00
OHu19374C NM_001038 Homo sapiens sodium channel, non-voltage-gated 1 alpha subunit (SCNN1A), transcript variant 1, mRNA. Customized vector On-demand 12-14 $329.00

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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?

Interactant

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