SCN1B

Voltage-gated sodium channels are heteromeric proteins that function in the generation and propagation of action potentials in muscle and neuronal cells. They are composed of one alpha and two beta subunits, where the alpha subunit provides channel activity and the beta-1 subunit modulates the kinetics of channel inactivation. This gene encodes a sodium channel beta-1 subunit. Mutations in this gene result in generalized epilepsy with febrile seizures plus, Brugada syndrome 5, and defects in cardiac conduction. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

Description

Sodium voltage-gated channel beta subunit 1

Tissue specificity

Group enriched (brain, skeletal muscle, tongue)

Predicted location

Intracellular, Membrane, Secreted in other tissues

Protein family

Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted membrane proteins
Predicted secreted proteins
Protein evidence (Kim et al 2014)

Chromosome

19 (35030470 - 35040449)

Ensembl ID

ENSG00000105711  (ver. 103.38)

Orthologs

Mouse Scn1b: ENSMUSG00000019194

UniProt

Q07699

neXtProt

NX_Q07699

Human splice variants
Mouse splice variants

Protein structure