SCN1A

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]

Description

Sodium voltage-gated channel alpha subunit 1

Tissue specificity

Tissue enriched (brain)

Subcell location

Nucleoplasm, Nuclear bodies, Plasma membrane

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Kim et al 2014)
Transporters
Voltage-gated ion channels

Chromosome

2 (165984641 - 166149214)

Ensembl ID

ENSG00000144285  (ver. 103.38)

Orthologs

Mouse Scn1a: ENSMUSG00000064329

UniProt

P35498

neXtProt

NX_P35498

Human splice variants
Mouse splice variants

Protein structure