Gene: SCN1A (sodium voltage-gated channel alpha subunit 1) Homo sapiens
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Symbol: SCN1A
Name: sodium voltage-gated channel alpha subunit 1
Description: Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium channel is composed of a large pore-forming, glycosylated alpha subunit and two smaller beta subunits. This gene encodes a sodium channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript. [provided by RefSeq, Oct 2015]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: EIEE6; FEB3; FEB3A; febrile convulsions 3; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; OTTHUMP00000041051; OTTHUMP00000041052; OTTHUMP00000205012; SCN1; SMEI; sodium channel protein brain I subunit alpha; sodium channel protein type 1 subunit alpha; sodium channel protein type I subunit alpha; sodium channel protein, brain I alpha subunit; sodium channel voltage gated type 1 alpha subunit; sodium channel, voltage gated, type I alpha subunit; sodium channel, voltage-gated, type I, alpha polypeptide; sodium channel, voltage-gated, type I, alpha subunit; voltage-gated sodium channel subunit alpha Nav1.1; voltage-gated sodium channel type I
Orthologs:
Mus musculus (house mouse) : Scn1a (sodium channel, voltage-gated, type I, alpha)  MGI
Rattus norvegicus (Norway rat) : Scn1a (sodium voltage-gated channel alpha subunit 1)
Chinchilla lanigera (long-tailed chinchilla) : Scn1a (sodium voltage-gated channel alpha subunit 1)
Pan paniscus (bonobo/pygmy chimpanzee) : SCN1A (sodium voltage-gated channel alpha subunit 1)
Canis lupus familiaris (dog) : SCN1A (sodium voltage-gated channel alpha subunit 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Scn1a (sodium voltage-gated channel alpha subunit 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382165,989,160 - 166,149,216 (-)NCBIGRCh38hg38GRCh38
GRCh372166,845,670 - 167,005,642 (-)NCBIGRCh37hg19GRCh37
Build 362166,553,916 - 166,638,395 (-)NCBINCBI36hg18NCBI36
Build 342166,673,232 - 166,755,638NCBI
Celera2160,455,660 - 160,540,161 (-)NCBI
Cytogenetic Map2q24.3NCBImapview
HuRef2158,727,062 - 158,886,965 (-)NCBI
CHM1_12166,851,977 - 167,011,835 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model