sodium voltage-gated channel alpha subunit 1

Summary
Gene Symbol
  • SCN1A
Organism
Homo sapiens (human)
NCBI Gene
6323
PubChem
6323
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Autism
  • Cell membrane
  • Disease variant
  • Disulfide bond
  • Epilepsy
  • Glycoprotein
  • Phosphoprotein
  • Reference proteome
  • Repeat
  • Sodium channel
  • Transmembrane helix
  • Voltage-gated channel
Proteins
Displaying 1 entry
UniProt Protein Name
P35498
  • Sodium channel protein brain I subunit alpha
  • Sodium channel protein type I subunit alpha
  • Voltage-gated sodium channel subunit alpha Nav1.1
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
sodium channel alpha subunit
Functional Category
  • E: Amino acid transport and metabolism
  • J: Translation, ribosomal structure and biogenesis
  • P: Inorganic ion transport and metabolism
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying all 5 entries
DO ID Disease Name Source
DOID:0060170 generalized epilepsy with febrile seizures plus
DOID:0070379 developmental and epileptic encephalopathy 6B
DOID:0080422 Dravet syndrome
DOID:0111183 familial hemiplegic migraine 3
DOID:0111294 generalized epilepsy with febrile seizures plus 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025