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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| sodium voltage-gated channel alpha subunit 1 | MIM:182389 | Ensembl:ENSG00000144285 | HGNC:HGNC:10585 | PA301 | 2q24.3 |
GO terms in SCN1A
| 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 |
| BP | IBA | GO:0035725 | sodium ion transmembrane transport |
| BP | IEA | GO:0035725 | sodium ion transmembrane transport |
| BP | IEA | GO:0050884 | neuromuscular process controlling posture |
| BP | ISS | GO:0050966 | detection of mechanical stimulus involved in sensory perception of pain |
| BP | IMP | GO:0086002 | cardiac muscle cell action potential involved in contraction |
| BP | IBA | GO:0086010 | membrane depolarization during action potential |
| CC | IEA | GO:0001518 | voltage-gated sodium channel complex |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | IBA | GO:0005886 | plasma membrane |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | IEA | GO:0014704 | intercalated disc |
| CC | IDA | GO:0016604 | nuclear body |
| CC | ISS | GO:0030018 | Z disc |
| CC | IEA | GO:0030315 | T-tubule |
| CC | IEA | GO:0033268 | node of Ranvier |
| CC | IEA | GO:0043025 | neuronal cell body |
| CC | IEA | GO:0043194 | axon initial segment |
| MF | IEA | GO:0005244 | voltage-gated ion channel activity |
| MF | IBA | GO:0005248 | voltage-gated sodium channel activity |
| MF | ISS | GO:0005248 | voltage-gated sodium channel activity |
| MF | NAS | GO:0005248 | voltage-gated sodium channel activity |
| MF | IBA | GO:0005261 | cation channel activity |
Gene expression in normal tissue: SCN1A
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SCN1A
| 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 |
| reactome | R-HSA-5576891 | Cardiac conduction |
| reactome | R-HSA-5576892 | Phase 0 - rapid depolarisation |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SCN1A
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