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FLASH GENE
Symbol SCN1B contributors: npt/mct - updated : 27-01-2013
HGNC name sodium channel, voltage-gated, type I, beta
HGNC id 10586
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal prominent extracellular domain
  • a single Ig-like fold motif maintened by a disulfide bond between two Cys
  • including C121, a single transmembrane segment (TM)
  • a C terminal cytoplasmic tail
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • sodium channel, voltage-gated, type I, required for normal inactivation kinetics of the Na+ channel
  • Na(+) channel beta1-subunit that modulates channel gating and voltage dependence, regulates channel cell surface expression, and functions as a cell adhesion molecule (Fein 2008)
  • may be reduces glucose-stimulated insulin and glucagon secretion (Ernst 2009)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GEFSP1 , BRGS5 , EIEE52
    Susceptibility to atrial fibrillation
    Variant & Polymorphism SNP R85H, D153N associated with atrial fibrillation (Watanabe 2009)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS