Basic Information

Symbol
SCN1A
RNA class
mRNA
Alias
Sodium Voltage-Gated Channel Alpha Subunit 1 NAC1 Nav1.1 GEFSP2 HBSCI SMEI SCN1 Sodium Channel, Voltage-Gated, Type I, Alpha Subunit Voltage-Gated Sodium Channel Subunit Alpha Nav1.1 Sodium Channel Protein Type 1 Subunit Alpha Sodium Channel Protein Type I Subunit Alpha FEB3 Sodium Channel, Voltage-Gated, Type I, Alpha Polypeptide Sodium Channel, Voltage Gated, Type I Alpha Subunit Sodium Channel Voltage Gated Type 1 Alpha Subunit Sodium Channel Protein, Brain I Alpha Subunit Sodium Channel Protein Brain I Subunit Alpha Febrile Convulsions 3 DEE6A DEE6B EIEE6 FEB3A DEE6 DRVT FHM3
Location (GRCh38)
2:165984641-166182806
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Mechanical injury analysis
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_001165963.4
Sequence length
11940.0 nt
GC content
0.3905

Transcripts

ID Sequence Length GC content
NM_001353957.2 NCBI
ACCAUAGAGUGAGGCGAGGAUGAAGCCGAGAGGAUACUGCAGAGGUCUC… 12849 nt 0.3882
NM_001353958.2 NCBI
AAGUGUAGGAGACACACUGCUGGCCUGUGGAAACUCAUGGAACUGUUCC… 12806 nt 0.3877
NM_001353960.2 NCBI
ACCAUAGAGUGAGGCGAGGAUGAAGCCGAGAGGAUACUGCAGAGGUCUC… 12938 nt 0.3882
NM_001353961.2 NCBI
ACCAUAGAGUGAGGCGAGGAUGAAGCCGAGAGGAUACUGCAGAGGUCUC… 13008 nt 0.3888
NM_006920.6 NCBI
ACCAUAGAGUGAGGCGAGGAUGAAGCCGAGAGGAUACUGCAGAGGUCUC… 13079 nt 0.3890
Showing 11 to 15 of 15 entries
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]

Forensic Context

A study in rats demonstrated that the SCN1A (Scn1a) was validated by RT-PCR as a significantly altered gene following traumatic spinal cord injury of varying severities, with its expression changes confirmed through microarray analysis [De Biase et al. DOI:10.1152/physiolgenomics.00081.2005].