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.
Statements (49)
| Predicate | Object |
|---|---|
| instanceOf |
ion channel
ⓘ
membrane protein ⓘ voltage-gated sodium channel ⓘ |
| associatedWithDisease |
Dravet syndrome
NERFINISHED
ⓘ
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
NERFINISHED
ⓘ
voltage-gated sodium channel alpha subunits ⓘ |
| chromosomalLocationOfGene | 2q24.3 ⓘ |
| dysfunctionLeadsTo | network hyperexcitability ⓘ |
| dysfunctionMechanism | impaired firing of inhibitory interneurons ⓘ |
| encodedBy | SCN1A gene NERFINISHED ⓘ |
| expressedIn | central nervous system ⓘ |
| gatedBy | membrane voltage ⓘ |
| hasAlternativeName |
NaV1.1
NERFINISHED
ⓘ
Nav1.1 NERFINISHED ⓘ SCN1A protein NERFINISHED ⓘ |
| 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 NERFINISHED ⓘ |
| 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 NERFINISHED ⓘ |
| mutationTypeAssociated |
frameshift mutations
ⓘ
loss-of-function mutations ⓘ missense mutations ⓘ nonsense mutations ⓘ splice-site mutations ⓘ |
| orthologFoundIn |
mouse
ⓘ
rat ⓘ zebrafish NERFINISHED ⓘ |
| playsRoleIn | inhibitory neurotransmission ⓘ |
| selectiveFor | Na+ ions ⓘ |
| subunitComposition | alpha subunit with four homologous domains ⓘ |
Referenced by (1)
Full triples — surface form annotated when it differs from this entity's canonical label.