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FLASH GENE
Symbol SCN1A contributors: mct - updated : 03-02-2017
HGNC name sodium channel, voltage-gated, type I, alpha subunit
HGNC id 10585
PROTEIN
PHYSICAL PROPERTIES Hydrophobic
STRUCTURE
motifs/domains
  • four domains of homology, each with six alpha helical membrane spanning segments
  • two cytoplasmic loops
    • mono polymer monomer
    HOMOLOGY
    interspecies homolog to murine Scn1a
    intraspecies homolog to SCN8A
    Homologene
    FAMILY
  • sodium channel family
    • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies
    basic FUNCTION
  • mediating the voltage-dependent sodium ion permeability of excitable membranes
  • having a slope conductance (17 pS) similar to channels found in native mammalian neurons
  • is the primary voltage-gated Na(+) channel in several classes of GABAergic interneurons, and its reduced activity leads to reduced excitability and decreased GABAergic tone
  • in axon initial segments of bipolar cells augment input to magnocellular visual pathways in the primate retina
  • plays a critical role in the initiation of action potential in the central nervous system
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism
    signaling
    a component
  • protein constituent of membrane
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with NOVA2 (specific regulatory role of NOVA2 in controlling a clinically significant alternative splicing of SCN1A)
  • potential involvement of RACK1 in negatively regulating SCN1A transcription via interaction with the silencer
  • RER1 controls the assembly and transport of SCN1A, SCN8A, the principal sodium channels responsible for recurrent firing, in Purkinje cell (PC)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GEFSP2 , SMEI2 , DEL2Q24
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    sporadic autistic disorder
    constitutional       loss of function
    may disrupt information processing in Dravet syndrom via a dysregulation of brain rhythms
    constitutional       loss of function
    dysfunction in SCN1A is increasingly being linked to neuropsychiatric abnormalities, social deficits and cognitive disabilities
    Susceptibility
  • to Rasmussen encephalitis
  • to Dravet syndrome
  • to autism spectrum disorder
    • Variant & Polymorphism other
  • R1575C mutation identified in a patient with Rasmussen encephalitis
  • putative disease-associated haplotype in two patients affected with Dravet syndrome
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice with Scn1a haploinsufficiency display hyperactivity, stereotyped behaviors, social interaction deficits, and impaired context-dependent spatial memory
  • Scn1a+/- mice exhibit hyperactivity, increased anxiety, and increased stereotyped behaviors, which are phenocopies of autistic traits in Dravet sdr