Version 5.4
Homo sapiens Gene: SCN1A
Summary
InnateDB Gene IDBG-74143.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SCN1A
Gene Name sodium channel, voltage-gated, type I, alpha subunit
Synonyms EIEE6; FEB3; FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI
Species Homo sapiens
Ensembl Gene ENSG00000144285
Encoded Proteins
IDBP-74145
sodium channel, voltage-gated, type I, alpha subunit
IDBP-74147
sodium channel, voltage-gated, type I, alpha subunit
IDBP-293790
sodium channel, voltage-gated, type I, alpha subunit
IDBP-387194
sodium channel, voltage-gated, type I, alpha subunit
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:165989160-166128013
Strand Reverse strand
Band q24.3
Transcripts
ENST00000375405 ENSP00000364554
ENST00000303395 ENSP00000303540
ENST00000409050 ENSP00000386312
ENST00000423058 ENSP00000407030
ENST00000473295
ENST00000491429
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005216 ion channel activity
GO:0005248 voltage-gated sodium channel activity
Biological Process
GO:0001508 action potential
GO:0006811 ion transport
GO:0006814 sodium ion transport
GO:0007628 adult walking behavior
GO:0019227 neuronal action potential propagation
GO:0019228 neuronal action potential
GO:0034765 regulation of ion transmembrane transport
GO:0035725 sodium ion transmembrane transport
GO:0042391 regulation of membrane potential
GO:0050884 neuromuscular process controlling posture
GO:0055085 transmembrane transport
GO:0086010 membrane depolarization during action potential
Cellular Component
GO:0001518 voltage-gated sodium channel complex
GO:0005886 plasma membrane
GO:0014704 intercalated disc
GO:0016020 membrane
GO:0030018 Z disc
GO:0030315 T-tubule
GO:0030424 axon
GO:0033268 node of Ranvier
GO:0034706 sodium channel complex
GO:0043025 neuronal cell body
GO:0043194 axon initial segment
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000064329
View Gene Order
ENSBTAG00000018520
Not yet available
Pathways
NETPATH
REACTOME
REACT_22266
Interaction between L1 and Ankyrins pathway
REACT_22205
L1CAM interactions pathway
REACT_111045
Developmental Biology pathway
REACT_18266
Axon guidance pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.22654
RefSeq NM_001165963 NM_001165964 NM_001202435 NM_006920
HUGO
OMIM
CCDS CCDS33316 CCDS54413 CCDS54414
HPRD 01669
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca