SCN1A [The Human Chemical-Genetic Interaction Map Project]

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======= SCN1A =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: SCN1A
  * **<color #00a2e8>Official Name</color>**: sodium voltage-gated channel alpha subunit 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=6323|6323]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P35498|P35498]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=SCN1A&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20SCN1A|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/182389|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  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}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Ion trans|
|Na trans assoc|
|DUF3451|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|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|
|locomotory behavior|
|response to mechanical stimulus|
|muscle contraction|
|nuclear body|
|axon|
|muscle system process|
|neuronal cell body|
|blood circulation|
|circulatory system process|
|monovalent inorganic cation transport|
|regulation of membrane potential|
|regulation of ion transmembrane transport|
|detection of stimulus involved in sensory perception|
|inorganic cation transmembrane transport|
|regulation of transmembrane transport|
|actin filament-based process|
|behavior|
|cation transmembrane transport|
|metal ion transport|
|inorganic ion transmembrane transport|
|detection of stimulus|
|regulation of ion transport|
|cation transport|
|ion transmembrane transport|
|sensory perception|
|response to abiotic stimulus|
|transmembrane transport|
|ion transport|
|nervous system process|
|movement of cell or subcellular component|
|regulation of transport|
|system process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp50|Nicotinamide 2000μM R01 exp50]]|-1.73|
|[[:results:exp30|Rapamycin 10μM R00 exp30]]|1.7|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='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|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 6093
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 0.4 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='SCN1A Expression in NALM6 Cells: 0.4'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>