Nav1.1 sodium channel

E874308

The Nav1.1 sodium channel is a voltage-gated ion channel in neurons whose dysfunction is strongly implicated in severe epileptic disorders such as Dravet syndrome.

All labels observed (7)

How this entity was disambiguated

Statements (49)

Predicate Object
instanceOf ion channel
membrane protein
voltage-gated sodium channel
associatedWithDisease Dravet syndrome
epileptic encephalopathy
familial hemiplegic migraine type 3
febrile seizures
generalized epilepsy with febrile seizures plus
severe myoclonic epilepsy of infancy
associatedWithPhenotype temperature-sensitive seizures in Dravet syndrome
belongsToFamily Nav1 family
voltage-gated sodium channel alpha subunits
chromosomalLocationOfGene 2q24.3
dysfunctionLeadsTo network hyperexcitability
dysfunctionMechanism impaired firing of inhibitory interneurons
encodedBy SCN1A gene
linked to: SCN1A
expressedIn central nervous system
gatedBy membrane voltage
hasAlternativeName NaV1.1
Nav1.1
SCN1A protein
hasBiologicalProcess action potential generation
regulation of neuronal excitability
synaptic transmission
hasDomain pore-forming domain
voltage-sensing domain
hasFunction initiates and propagates action potentials
mediates voltage-dependent sodium ion influx in neurons
hasMolecularFunction sodium ion transmembrane transporter activity
voltage-gated sodium channel activity
hasSystematicName sodium channel protein type 1 subunit alpha
linked to: SCN1A
hasTransmembraneSegments four domains each with six transmembrane segments
highlyExpressedIn GABAergic inhibitory interneurons
inactivatedBy fast inactivation gate
isTargetOf antiepileptic drug research
locatedIn axon initial segment
neuronal plasma membrane
nodes of Ranvier
mutationTypeAssociated frameshift mutations
loss-of-function mutations
missense mutations
nonsense mutations
splice-site mutations
orthologFoundIn mouse
rat
zebrafish
linked to: Danio rerio
playsRoleIn inhibitory neurotransmission
selectiveFor Na+ ions
subunitComposition alpha subunit with four homologous domains

How these facts were elicited

Referenced by (7)

Full triples — surface form annotated when it differs from this entity's canonical label.

Dravet syndrome affectsProtein Nav1.1 sodium channel
SCN1A encodes sodium channel protein type 1 subunit alpha
linked to: Nav1.1 sodium channel
SCN1A alias NAv1.1 alpha subunit
linked to: Nav1.1 sodium channel
SCN1A hasOrtholog Scn1a (mouse)
linked to: Nav1.1 sodium channel
Nav1.1 sodium channel hasAlternativeName NaV1.1
linked to: Nav1.1 sodium channel
Nav1.1 sodium channel hasAlternativeName SCN1A protein
linked to: Nav1.1 sodium channel
Nav1.1 sodium channel belongsToFamily Nav1 family
linked to: Nav1.1 sodium channel