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gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
Nav1.1
sodium channel, voltage-gated, type I, alpha subunit
|
|
gptkbp:associatedWith
|
gptkb:Dravet_syndrome
generalized epilepsy with febrile seizures plus
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|
gptkbp:biologicalProcess
|
synaptic transmission
neuronal excitability
regulation of membrane potential
voltage-gated sodium channel activity
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|
gptkbp:cellularComponent
|
gptkb:plasma_membrane
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for epilepsy
|
|
gptkbp:discoveredBy
|
William A. Catterall
|
|
gptkbp:encodes
|
sodium channel protein type 1 subunit alpha
|
|
gptkbp:Entrez_Gene_ID
|
6323
|
|
gptkbp:expressedDuringDevelopment
|
postnatal
prenatal
|
|
gptkbp:expressedIn
|
brain
|
|
gptkbp:firstDescribed
|
1992
|
|
gptkbp:foundIn
|
gptkb:Homo_sapiens
|
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gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasMouseModel
|
Scn1a knockout mouse
|
|
gptkbp:hasParalog
|
gptkb:SCN8A
gptkb:SCN9A
SCN2A
SCN3A
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
10577
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SCN1A
|
|
gptkbp:length
|
2009 amino acids
|
|
gptkbp:locatedOnChromosome
|
2q24.3
|
|
gptkbp:mutationAssociatedWith
|
epilepsy
nonsense
missense
frameshift
splice site
|
|
gptkbp:mutationInheritance
|
autosomal dominant
de novo
|
|
gptkbp:numberOfExons
|
26
|
|
gptkbp:OMIM
|
182389
|
|
gptkbp:orthologInMouse
|
Scn1a
|
|
gptkbp:pathway
|
neurotransmitter release
axon guidance
neuronal action potential
|
|
gptkbp:proteinFamily
|
voltage-gated sodium channel alpha subunits
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:targetOfDrug
|
antiepileptic drugs
|
|
gptkbp:UniProtID
|
P35498
|
|
gptkbp:bfsParent
|
gptkb:Hemiplegic_migraine
|
|
gptkbp:bfsLayer
|
7
|