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Description for Protein SCNN1A

sodium channel, nonvoltage-gated 1 alpha
14 total interacting proteins; 6 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
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] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K04824
    KEGG - Pathway(s):
    hsa04742; hsa04960
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    SCNN1; SCNEA; ENaCa
    Approved Symbol:
    SCNN1A
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 2
    Human (de-) phosphorylation sites: 2; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • Amiloride(db);
  • Triamterene(db)

    Associated Genetic Diseases:

  • Pseudohypoaldosteronism, type I, autosomal recessive(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 02575 Entrez Gene ID: 6337 OMIM ID: 600228 Swissprot Accession: P37088; B4E2Q5;