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FLASH GENE
Symbol SCN1B contributors: npt/mct - updated : 27-01-2010
HGNC name sodium channel, voltage-gated, type I, beta
HGNC id 10586
Corresponding disease
BRGS5 Brugada syndrome 5
GEFSP1 generalized epilepsy with febrile seizures plus, 1
SMEI3 severe myoclonic epilepsy in infancy 3
Location 19q13.12      Physical location : 35.521.591 - 35.531.352
Synonym name sodium channel, voltage-gated, type I, beta polypeptide
Synonym symbol(s) SCNB1, GEFS1
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
Physical map
LOC390919 19 similar to ZNF140-like transcription factor LOC390920 19 similar to zinc finger protein 2 ZNF302 19q13.2 zinc finger protein 302 LOC390921 19 similar to Major allergen I polypeptide chain 1 major form precursor (Allergen Fel d 1-A) (Fel d I-A) (Allergen Cat-1) (Fel dI) (AG4) ZNF181 19q13.1-q13.3 zinc finger protein 181 (HHZ181) FLJ30663 19q13.13 hypothetical protein FLJ30663 LOC390922 19 similar to FLJ38451 protein LOC390923 19 similar to zinc finger protein 113 LOC342885 19q13.13 similar to ABO histo-blood group B transferase DKFZp686N19164 FLJ38451 19q13.13 FLJ38451 protein KIAA1533 19q13.13 KIAA1533 SCN1B 19q13.1 sodium channel, voltage-gated, type I, beta HPN 19q13.1 hepsin (transmembrane protease, serine 1) LOC339320 19q13.13 similar to tectorin alpha precursor; Tectorin, alpha FXYD3 19q13.13 FXYD domain containing ion transport regulator 3 LGI4 19q13.12 leucine-rich repeat LGI family, member 4 FXYD1 19q13.1 FXYD domain containing ion transport regulator 1 (phospholemman) FXYD7 19q13.13 FXYD domain containing ion transport regulator 7 FXYD5 19q12-q13.1 FXYD domain containing ion transport regulator 5 FLJ25660 19q13.13 hypothetical protein FLJ25660 LISCH7 19q13.13 LISCH protein USF2 19q13.1 upstream transcription factor 2, c-fos interacting HAMP 19q13.1 hepcidin antimicrobial peptide MAG 19q13.1 myelin associated glycoprotein FLJ22814 19q13.13 hypothetical protein FLJ22814 CD22 19q13.1 CD22 antigen GPR40 19q13.1 G protein-coupled receptor 40 GPR41 19q13.1 G protein-coupled receptor 41 GPR42 19q13.1 G protein-coupled receptor 42 LOC390924 19 similar to Elongation factor 1-alpha 1 (EF-1-alpha-1) (Elongation factor 1 A-1) (eEF1A-1) (Elongation factor Tu) (EF-Tu) GPR43 19q13.1 G protein-coupled receptor 43 LOC388533 19 similar to KIPV467 ZD52F10 19q13.13 hypothetical gene ZD52F10
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 , SMEI3
    Susceptibility to atrial fibrillation
    Variant & Polymorphism SNP R85H, D153N associated with atrial fibrillation (Watanabe 2009)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS