Summary: 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].

sodium voltage-gated channel alpha subunit 1MIM:182389Ensembl:ENSG00000144285HGNC:HGNC:10585PA3012q24.3

GO terms in SCN1A

Term TypeEvidence TypeGO Term IDGO Des.
BPISSGO:0006814sodium ion transport
BPNASGO:0006814sodium ion transport
BPIEAGO:0007628adult walking behavior
BPIEAGO:0019227neuronal action potential propagation
BPIBAGO:0019228neuronal action potential
BPIEAGO:0034765regulation of ion transmembrane transport
BPIBAGO:0035725sodium ion transmembrane transport
BPIEAGO:0035725sodium ion transmembrane transport
BPIEAGO:0050884neuromuscular process controlling posture
BPISSGO:0050966detection of mechanical stimulus involved in sensory perception of pain
BPIMPGO:0086002cardiac muscle cell action potential involved in contraction
BPIBAGO:0086010membrane depolarization during action potential
CCIEAGO:0001518voltage-gated sodium channel complex
CCIBAGO:0005886plasma membrane
CCIDAGO:0005886plasma membrane
CCIEAGO:0014704intercalated disc
CCIDAGO:0016604nuclear body
CCISSGO:0030018Z disc
CCIEAGO:0033268node of Ranvier
CCIEAGO:0043025neuronal cell body
CCIEAGO:0043194axon initial segment
MFIEAGO:0005244voltage-gated ion channel activity
MFIBAGO:0005248voltage-gated sodium channel activity
MFISSGO:0005248voltage-gated sodium channel activity
MFNASGO:0005248voltage-gated sodium channel activity
MFIBAGO:0005261cation channel activity

Gene expression in normal tissue: SCN1A

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in SCN1A

DatabasePathway IDPathway Des.
kegghsa04728Dopaminergic synapse - Homo sapiens (human)
reactomeR-HSA-1266738Developmental Biology
reactomeR-HSA-373760L1CAM interactions
reactomeR-HSA-397014Muscle contraction
reactomeR-HSA-422475Axon guidance
reactomeR-HSA-445095Interaction between L1 and Ankyrins
reactomeR-HSA-5576891Cardiac conduction
reactomeR-HSA-5576892Phase 0 - rapid depolarisation

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in SCN1A