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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain limbic system hippocampus     Mus musculus Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Mus musculus

cell lineage

cell lines

fluid/secretion

at STAGE

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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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