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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
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Endocrineadrenal gland    
Nervousbrain    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
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