SCN1A


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].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location

GO terms in SCN1A


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Term Type
Evidence Type
GO Term ID
GO Des.
BP ISS GO:0006814 sodium ion transport
BP NAS GO:0006814 sodium ion transport
BP IEA GO:0007628 adult walking behavior
BP IEA GO:0019227 neuronal action potential propagation
BP IBA GO:0019228 neuronal action potential
BP IEA GO:0034765 regulation of ion transmembrane transport
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Gene expression in normal tissue: SCN1A

16 tissues mixtureadiposeadrenalbrainbreastcolonheartkidneyliverlunglymph nodeovaryprostateskeletal muscletestesthyroidwhite blood cells

Gene-model tissue-cancer distribution: Bubble Plot

undefinetissue: undefine cancer: undefined model num: 0undefinedtissue: undefined cancer: PANCAN model num: 2

Gene-drug pathway distribution

Pathways in SCN1A


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Database
Pathway ID
Pathway Des.
kegg hsa04728 Dopaminergic synapse - Homo sapiens (human)
reactome R-HSA-1266738 Developmental Biology
reactome R-HSA-373760 L1CAM interactions
reactome R-HSA-397014 Muscle contraction
reactome R-HSA-422475 Axon guidance
reactome R-HSA-445095 Interaction between L1 and Ankyrins
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD399 Selumetinib 1
iGMDRD353 PD0325901 1
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in SCN1A

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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