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FLASH GENE
Symbol SCNN1G contributors: mct - updated : 19-04-2017
HGNC name sodium channel, nonvoltage-gated 1, gamma
HGNC id 10602
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • (at least) two membrane spanning segments
  • several glycosylation and a nucleotide binding sites
  • a N terminal cluster of negatively charged AA
  • a C terminal cluster of positively charged AA, forming a cytosolic domain reactive at the plasma membrane
  • a conserved proline-rich aminoacid sequence (PY motif, inhibiting Na+ absorption by interacting with NEDD4
    • mono polymer heteromer , tetramer
    HOMOLOGY
    Homologene
    FAMILY
  • degenerin/ENaC superfamily
  • amiloride-sensitive cation channels
    • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    text gated in the luminal membrane of the collecting tubule of kidney, apical membrane
    basic FUNCTION
  • epithelial amiloride-sensitive sodium channel,non-voltage
  • mediating renal reabsorption of sodium in the distal tubule
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS active transport
    PATHWAY
    metabolism
    signaling
    a component
  • component of a heterotetramer including two SCNN1A, and one SCNN1B and one SCNN1G
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NEDD4 binding
  • PCSK9 inhibits ENaC (SCNN1A, SCNN1B, SCNN1G) current by reducing the number of channels at the cell surface
    • cell & other
    REGULATION
    Other regulated by aldosterone
    ASSOCIATED DISORDERS
    corresponding disease(s) PHA1A1 , PSALD
    Susceptibility
    Variant & Polymorphism
    Candidate gene could be a modifier gene in cystic fibrosis
    Marker
    Therapy target
    ANIMAL & CELL MODELS