SCN1A
Sign in to saveAlso known as EIEE6, FEB3, FEB3A, FHM3, GEFSP2, HBSCI, NAC1, Nav1.1
Sodium channel protein type 1 subunit alpha (SCN1A), is a protein which in humans is encoded by the SCN1A gene.
In the Vinony graph
Within Vinony's link graph, SCN1A is referenced by 381 other articles, and connects out to mutation, PubMed and human chromosome 2.
It is catalogued under topics including Genes on human chromosome 2 and Sodium channels.
Its subject is documented across 5 Wikipedia language editions.
Gene data
SCN1A- Name
- sodium voltage-gated channel alpha subunit 1
- Type
- protein-coding
- Position
- 165,984,641–166,182,806 (−)
- Aliases
- DEE6, DEE6A, DEE6B, DRVT, EIEE6, FEB3, FEB3A, FHM3, GEFSP2, HBSCI
- Ensembl
- ENSG00000144285
- RefSeq RNA
- NM_001165963.4, NM_001165964.3, NM_001202435.3, NM_001353948.2, NM_001353949.2
- RefSeq protein
- NP_001159435.1, NP_001159436.1, NP_001189364.1, NP_001340877.1, NP_001340878.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
sodium voltage-gated channel alpha subunit 1
- Symbol
- SCN1A
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 2:165,984,641-166,182,806
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- SCN1A.png
Show 9 more facts
- HomoloGene ID
- 21375
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/6323
- genomic end
- 166984523
- genomic start
- 165984641
- expressed in
- postcentral gyrus
- chromosome
- human chromosome 2
- cytogenetic location
- 2q24.3
- Commons category
- SCN1A
via Wikidata · CC0
~5 min read
Encyclopedic overview
9 sectionsContents
- Gene location
- Function
- Clinical significance
- Patent controversy
- Interactions
- See also
- References
- Further reading
- External links
Sodium channel protein type 1 subunit alpha (SCN1A), is a protein which in humans is encoded by the SCN1A gene.
==Gene location==
Excerpted from Wikipedia’s “SCN1A” article, available under the CC BY-SA 4.0 licence.