SCN1A

Gene Information

Official Symbol: SCN1A
Official Name: sodium voltage-gated channel alpha subunit 1
Aliases and Previous Symbols: N/A
Entrez ID: 6323
UniProt: P35498
Interactions: BioGRID
PubMed articles: Open PubMed
OMIM: Open OMIM

Function Summary

Entrez 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].
UniProt Summary: Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. Plays a key role in brain, probably by regulating the moment when neurotransmitters are released in neurons. Involved in sensory perception of mechanical pain: activation in somatosensory neurons induces pain without neurogenic inflammation and produces hypersensitivity to mechanical, but not thermal stimuli. {ECO:0000250|UniProtKB:A2APX8}.

Pfam Domains GO Terms

CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Global Fraction of Cell Lines Where Essential: 0/739

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/28
bone	0/26
breast	0/33
central nervous system	0/56
cervix	0/4
colorectal	0/17
esophagus	0/13
fibroblast	0/1
gastric	0/16
kidney	0/21
liver	0/20
lung	0/75
lymphocyte	0/16
ovary	0/26
pancreas	0/24
peripheral nervous system	0/16
plasma cell	0/15
prostate	0/1
skin	0/24
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/29
uterus	0/5

Essentiality in NALM6

Essentiality Rank: 6093
Expression level (log2 read counts): 0.4

Expression Distribution

Screen	Score
Nicotinamide 2000μM R01 exp50	-1.73
Rapamycin 10μM R00 exp30	1.7

Ion trans
Na trans assoc
DUF3451

action potential propagation
neuronal action potential propagation
detection of mechanical stimulus involved in sensory perception of pain
voltage-gated sodium channel complex
node of Ranvier
neuromuscular process controlling posture
voltage-gated sodium channel activity
axon initial segment
neuronal action potential
detection of mechanical stimulus involved in sensory perception
adult walking behavior
membrane depolarization during action potential
walking behavior
cardiac muscle cell action potential involved in contraction
cardiac muscle cell contraction
T-tubule
voltage-gated ion channel activity
detection of mechanical stimulus
intercalated disc
cardiac muscle cell action potential
membrane depolarization
transmission of nerve impulse
sensory perception of pain
adult locomotory behavior
cardiac muscle contraction
heart contraction
actin-mediated cell contraction
sodium ion transmembrane transport
action potential
heart process
neuromuscular process
striated muscle contraction
actin filament-based movement
detection of external stimulus
detection of abiotic stimulus
Z disc
multicellular organismal signaling
adult behavior
sodium ion transport
sensory perception of mechanical stimulus