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

Gene ID: 6337, updated on 25-Oct-2014
Official Symbol
SCNN1Aprovided by HGNC
Official Full Name
sodium channel, non-voltage-gated 1 alpha subunitprovided by HGNC
Primary source
HGNC:HGNC:10599
See related
Ensembl:ENSG00000111319; HPRD:02575; MIM:600228; Vega:OTTHUMG00000168268
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BESC2; ENaCa; SCNEA; SCNN1; ENaCalpha
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]
See SCNN1A in Epigenomics, MapViewer
Location:
12p13
Exon count:
14
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 12 NC_000012.12 (6346843..6377357, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (6456009..6486896, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene pleckstrin homology domain containing, family G (with RhoGef domain) member 6 Neighboring gene tumor necrosis factor receptor superfamily, member 1A Neighboring gene lymphotoxin beta receptor (TNFR superfamily, member 3) Neighboring gene ribosomal protein L31 pseudogene 10 Neighboring gene CD27 antisense RNA 1 Neighboring gene signal recognition particle 14kDa (homologous Alu RNA binding protein) pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Bronchiectasis with or without elevated sweat chloride 2
MedGen: C2751666 OMIM: 613021 GeneReviews: Not available
Compare labs
Pseudohypoaldosteronism type 1 autosomal recessive
MedGen: C1449843 OMIM: 264350 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
NHGRI GWA Catalog
  • Aldosterone-regulated sodium reabsorption, organism-specific biosystem (from KEGG)
    Aldosterone-regulated sodium reabsorption, organism-specific biosystemSodium transport across the tight epithelia of Na+ reabsorbing tissues such as the distal part of the kidney nephron and colon is the major factor determining total-body Na+ levels, and thus, long-te...
  • Aldosterone-regulated sodium reabsorption, conserved biosystem (from KEGG)
    Aldosterone-regulated sodium reabsorption, conserved biosystemSodium transport across the tight epithelia of Na+ reabsorbing tissues such as the distal part of the kidney nephron and colon is the major factor determining total-body Na+ levels, and thus, long-te...
  • Ion channel transport, organism-specific biosystem (from REACTOME)
    Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
  • Stimuli-sensing channels, organism-specific biosystem (from REACTOME)
    Stimuli-sensing channels, organism-specific biosystemIon channels that mediate sensations such as pain, warmth, cold, taste pressure and vision. Channels that mediate these sensations include acid-sensing ion channels (ASICs) (Wang & Xu 2011, Qadri et ...
  • Taste transduction, organism-specific biosystem (from KEGG)
    Taste transduction, organism-specific biosystemAll taste pathways are proposed to converge on common elements that mediate a rise in intracellular Ca2+ followed by neurotransmitter release. Na+ salt depolarizes taste cells by passive influx of Na...
  • Taste transduction, conserved biosystem (from KEGG)
    Taste transduction, conserved biosystemAll taste pathways are proposed to converge on common elements that mediate a rise in intracellular Ca2+ followed by neurotransmitter release. Na+ salt depolarizes taste cells by passive influx of Na...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ21883

Gene Ontology Provided by GOA

Function Evidence Code Pubs
WW domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
actin binding IEA
Inferred from Electronic Annotation
more info
 
contributes_to ligand-gated sodium channel activity IDA
Inferred from Direct Assay
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
excretion TAS
Traceable Author Statement
more info
PubMed 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
multicellular organismal water homeostasis IDA
Inferred from Direct Assay
more info
 
response to stimulus IEA
Inferred from Electronic Annotation
more info
 
sensory perception of taste IEA
Inferred from Electronic Annotation
more info
 
sodium ion homeostasis IDA
Inferred from Direct Assay
more info
 
sodium ion transmembrane transport IDA
Inferred from Direct Assay
more info
 
sodium ion transport TAS
Traceable Author Statement
more info
PubMed 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
apical plasma membrane IDA
Inferred from Direct Assay
more info
 
ciliary membrane IDA
Inferred from Direct Assay
more info
 
cortical actin cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol IEA
Inferred from Electronic Annotation
more info
 
external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
 
motile cilium IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
sodium channel complex IDA
Inferred from Direct Assay
more info
 
Preferred Names
amiloride-sensitive sodium channel subunit alpha
Names
amiloride-sensitive sodium channel subunit alpha
alpha-ENaC
alpha-NaCH
alpha ENaC-2
epithelial Na(+) channel subunit alpha
sodium channel, nonvoltage-gated 1 alpha
nasal epithelial sodium channel alpha subunit
nonvoltage-gated sodium channel 1 subunit alpha
amiloride-sensitive sodium channel subunit alpha 2
amiloride-sensitive epithelial sodium channel alpha subunit

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011945.1 

    Range
    5001..35515
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001038.5NP_001029.1  amiloride-sensitive sodium channel subunit alpha isoform 1

    See proteins identical to NP_001029.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as alpha-ENaC1) represents the predominant transcript, and encodes isoform 1.
    Source sequence(s)
    BU680600, DB232484, X76180
    Consensus CDS
    CCDS8543.1
    UniProtKB/Swiss-Prot
    P37088
    Related
    ENSP00000228916, OTTHUMP00000238448, ENST00000228916, OTTHUMT00000399055
    Conserved Domains (2) summary
    TIGR00859
    Location:54647
    ENaC; sodium channel transporter
    TIGR00867
    Location:62572
    deg-1; degenerin
  2. NM_001159575.1NP_001153047.1  amiloride-sensitive sodium channel subunit alpha isoform 3

    See proteins identical to NP_001153047.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate exon in the 5' coding region, and uses an in-frame upstream start codon compared to variant 1. This results in an isoform (3) with a longer N-terminus compared to isoform 1.
    Source sequence(s)
    AK304379, BU680600, X76180
    Consensus CDS
    CCDS53739.1
    UniProtKB/Swiss-Prot
    P37088
    Conserved Domains (2) summary
    TIGR00859
    Location:77670
    ENaC; sodium channel transporter
    TIGR00867
    Location:85595
    deg-1; degenerin
  3. NM_001159576.1NP_001153048.1  amiloride-sensitive sodium channel subunit alpha isoform 2

    See proteins identical to NP_001153048.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as alpha-ENaC2) contains an alternate segment in the 5' coding region, and uses an in-frame upstream start codon compared to variant 1. This results in an isoform (2) with a longer N-terminus compared to isoform 1.
    Source sequence(s)
    AK172792, BC006526, BU680600
    Consensus CDS
    CCDS53738.1
    UniProtKB/Swiss-Prot
    P37088
    Related
    ENSP00000353292, OTTHUMP00000238446, ENST00000360168, OTTHUMT00000399053
    Conserved Domains (2) summary
    TIGR00859
    Location:113706
    ENaC; sodium channel transporter
    TIGR00867
    Location:121631
    deg-1; degenerin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000012.12 

    Range
    6346843..6377357
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000144.1 

    Range
    6309328..6340388
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 

    Range
    6455271..6485705
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)