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

    Gene ID: 6337, updated on 22-Sep-2022

    Summary

    Official Symbol
    SCNN1Aprovided by HGNC
    Official Full Name
    sodium channel epithelial 1 subunit alphaprovided by HGNC
    Primary source
    HGNC:HGNC:10599
    See related
    Ensembl:ENSG00000111319 MIM:600228; AllianceGenome:HGNC:10599
    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; LIDLS3; 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]
    Expression
    Broad expression in kidney (RPKM 50.6), colon (RPKM 38.2) and 15 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SCNN1A in Genome Data Viewer
    Location:
    12p13.31
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (6346847..6377359, complement)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (6356269..6387417, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (6456013..6486525, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene TNF receptor superfamily member 1A Neighboring gene Sharpr-MPRA regulatory region 11848 Neighboring gene uncharacterized LOC112268088 Neighboring gene uncharacterized LOC107984500 Neighboring gene RNA, 7SL, cytoplasmic 391, pseudogene Neighboring gene uncharacterized LOC105369626 Neighboring gene lymphotoxin beta receptor Neighboring gene ribosomal protein L31 pseudogene 10 Neighboring gene CD27 antisense RNA 1 Neighboring gene signal recognition particle 14 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Autosomal recessive pseudohypoaldosteronism type 1
    MedGen: C1449843 OMIM: 264350 GeneReviews: Not available
    Compare labs
    Bronchiectasis with or without elevated sweat chloride 2
    MedGen: C2751666 OMIM: 613021 GeneReviews: Not available
    Compare labs
    Liddle syndrome 3
    MedGen: C4748292 OMIM: 618126 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ21883

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 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 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in acrosomal vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ciliary membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in motile cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of sodium channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of sodium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of sodium channel complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in sperm principal piece ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    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 epithelial 1 alpha subunit
    sodium channel, non voltage gated 1 alpha subunit
    sodium channel, non-voltage-gated 1 alpha
    sodium channel, nonvoltage-gated 1 alpha

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_011945.2 RefSeqGene

      Range
      6795..35511
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001038.6NP_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)
      DB232484, X76180
      Consensus CDS
      CCDS8543.1
      UniProtKB/Swiss-Prot
      P37088, Q9UM64
      Related
      ENSP00000228916.2, ENST00000228916.7
      Conserved Domains (1) summary
      TIGR00859
      Location:54647
      ENaC; sodium channel transporter
    2. NM_001159575.2NP_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)
      AC005840, AK304379, X76180
      Consensus CDS
      CCDS53739.1
      UniProtKB/Swiss-Prot
      P37088
      Related
      ENSP00000438739.1, ENST00000543768.1
      Conserved Domains (2) summary
      TIGR00859
      Location:77670
      ENaC; sodium channel transporter
      TIGR00867
      Location:85595
      deg-1; degenerin
    3. NM_001159576.2NP_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)
      AC005840, AK172792, BC006526
      Consensus CDS
      CCDS53738.1
      UniProtKB/Swiss-Prot
      P37088
      Related
      ENSP00000353292.3, ENST00000360168.7
      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 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      6346847..6377359 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      6356269..6387417 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)