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