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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
DNA
TYPE functioning gene
STRUCTURE 9.82 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 splicing 1463 24.7 218 skeletal muscle, adrenal gland, and expressed in brain and heart 2011 21994374
variant 1, beta isoform a
3 - 1112 30.1 268 predominantly in brain, spinal cord, dorsal root ganglion and skeletal muscle, expressed in brain and heart 2011 21994374
  • variant 2, beta isoform b, beta 1B
  • identical N-terminal half (AAs 1-149) with the beta1 subunit, but a novel C-terminal half (AAs 150-268)
  • not a transmembrane protein, but a soluble protein expressed predominantly during embryonic development that promotes neurite outgrowth
  • G257R may contribute to epilepsy through a mechanism that includes intracellular retention resulting in aberrant neuronal pathfinding
  • 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