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FLASH GENE
Symbol SCNN1D contributors: mct - updated : 06-06-2012
HGNC name sodium channel, nonvoltage-gated 1, delta
HGNC id 10601
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
  • a conserved proline-rich amino-acid sequence (PPxY motif) inhibiting Na+ reabsorption by interacting with NEDD4
    • conjugated GlycoP
    mono polymer heteromer , tetramer
    HOMOLOGY
    Homologene
    FAMILY
  • degenerin/ENaC superfamily of non-voltage-gated, highly amiloride-sensitive cation channels
    • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • multi-pass membrane protein
    • basic FUNCTION
  • epithelial amiloride-sensitive sodium channel, non-voltage gated, controling the reabsorption of sodium in kidney, colon, lung and sweat glands
  • also playing a role in taste perception
  • candidate molecule for pH sensing in the gastrointestinal system
  • alters proteolytic channel activation and enhances base-line channel activity
  • undergoes dynamin-independent endocytosis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS active transport
    text Na+ transport
    PATHWAY
    metabolism
    signaling sensory transduction/taste
    a component
  • component of a heterotetramer including two SCNN1D, one SCNN1B and one SCNN1G
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • COMMD1 associate with SCNN1D and downregulate its activity
  • CNKSR3 physically interacts with SCNN1A, B, D, NEDD4L, and SGK1 and stimulates SCNN1A, SCNN1B, SCNN1D function in a PDZ domain-dependent, aldosterone-induced manner
    • cell & other
    REGULATION
    inhibited by the diuretic amiloride
    Other regulated by COMMD1
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    digestive  
    therapeutic target for gastro-oesophageal reflux disease
    ANIMAL & CELL MODELS