Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    SCNN1A sodium channel epithelial 1 alpha subunit [ Homo sapiens (human) ]

    Gene ID: 6337, updated on 20-Apr-2017
    Official Symbol
    SCNN1Aprovided by HGNC
    Official Full Name
    sodium channel epithelial 1 alpha subunitprovided by HGNC
    Primary source
    HGNC:HGNC:10599
    See related
    Ensembl:ENSG00000111319 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]
    Orthologs
    Location:
    12p13.31
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 and RhoGEF domain containing G6 Neighboring gene TNF receptor superfamily member 1A Neighboring gene uncharacterized LOC107984500 Neighboring gene uncharacterized LOC105369626 Neighboring gene lymphotoxin beta receptor Neighboring gene uncharacterized LOC105369628 Neighboring gene ribosomal protein L31 pseudogene 10

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    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 biosystemFive basic tastes are recognized by humans and most other animals - bitter, sweet, sour, salty and umami. In vertebrates, taste stimuli are detected by taste receptor cells (TRCs). At least three dis...
    • Taste transduction, conserved biosystem (from KEGG)
      Taste transduction, conserved biosystemFive basic tastes are recognized by humans and most other animals - bitter, sweet, sour, salty and umami. In vertebrates, taste stimuli are detected by taste receptor cells (TRCs). At least three dis...
    • 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 
    contributes_to ligand-gated sodium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    multicellular organismal water homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
    PubMed 
    sodium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ciliary membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    motile cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    sodium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    amiloride-sensitive sodium channel subunit alpha
    Names
    alpha ENaC-2
    alpha-ENaC
    alpha-NaCH
    amiloride-sensitive epithelial sodium channel alpha subunit
    amiloride-sensitive sodium channel subunit alpha 2
    epithelial Na(+) channel subunit alpha
    nasal epithelial sodium channel alpha subunit
    nonvoltage-gated sodium channel 1 subunit alpha
    sodium channel, non voltage gated 1 alpha subunit
    sodium channel, non-voltage-gated 1 alpha
    sodium channel, nonvoltage-gated 1 alpha

    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 RefSeqGene

      Range
      6619..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 identical proteins and their annotated locations for 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
      ENSP00000228916.2, OTTHUMP00000238448, ENST00000228916.6, 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 identical proteins and their annotated locations for 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
      Related
      ENSP00000438739.1, OTTHUMP00000238451, ENST00000543768.1, OTTHUMT00000399058
      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 identical proteins and their annotated locations for 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
      ENSP00000353292.3, OTTHUMP00000238446, ENST00000360168.7, 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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

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