SCN1A

GENE INFORMATION

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Gene name

SCN1A (HGNC Symbol)

Synonyms

FEB3, GEFSP2, HBSCI, NAC1, Nav1.1, SCN1, SMEI

Description

sodium channel, voltage-gated, type I, alpha subunit (HGNC Symbol)

Entrez gene summary

The vertebrate sodium channel is a voltage-gated ion channel essential for the generation and propagation of action potentials, mainly in nerve and muscle. Voltage-sensitive sodium channels are heteromeric complexes consisting of a large central pore-forming glycosylated alpha subunit, and two smaller auxiliary beta subunits. This gene encodes the large alpha subunit, and mutations in this gene have been associated with several epilepsy, convulsion and migraine disorders. 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, Jan 2011]

Chromosome

2 (Chromosome progress)

Cytoband

q24.3

Chromosome location (bp)

166845670 - 166984523

Ensembl

ENSG00000144285 (version 73.37)

Entrez gene

6323

UniProt

P35498 (UniProt - Evidence at protein level)

neXtProt

NX_P35498

Antibodypedia

SCN1A antibodies
 

PROTEIN VIEW

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SCN1A-001
 
SCN1A-002
 
SCN1A-003
 
SCN1A-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SCN1A-001 ENSP00000303540
ENST00000303395
P35498
Show all »
Show » Show » 2009 229 No >9
SCN1A-002 ENSP00000364554
ENST00000375405
P35498
Show all »
Show » Show » 1998 227.8 No >9
SCN1A-003 ENSP00000386312
ENST00000409050
P35498
Show all »
Show » Show » 1981 226.2 No >9
SCN1A-201 ENSP00000407030
ENST00000423058
P35498
Show all »
Show » Show » 2009 229 No >9