SCN1B Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
SCN1B
Official Name
sodium voltage-gated channel beta subunit 1 [Source:HGNC Symbol;Acc:HGNC:10586]
Ensembl ID
ENSG00000105711
Bio databases IDs NCBI: 6324 Ensembl: ENSG00000105711
Aliases sodium voltage-gated channel beta subunit 1
Synonyms ATFB13, Beta 1 Nav, BRGDA5, DEE52, EIEE52, GEFSP1, na plus channel β 1 subunit, Na type i, beta, Na type i, β, NAV1.5 beta1 subunit, Nav channel beta1 subunit, Nav channel β1 subunit, sodium channel, voltage-gated, type I, beta, sodium channel, voltage-gated, type I, β, Sodium channel β-1 subunit, sodium voltage-gated channel beta subunit 1, sodium voltage-gated channel β subunit 1, Voltage dependent sodium channel beta1 subunit, β 1 Nav
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SCN1B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • extracellular domain
  • voltage-gated sodium channel
  • cytoplasmic domain
  • immunoglobulin domain
  • transmembrane domain
  • sodium channel regulator
  • protein binding
  • membrane-proximal domain
  • immunoglobulin loop
  • ion channel
  • Immunoglobulin V-set domain
  • sodium channel inhibitor

Pathways

Biological processes and signaling networks where the SCN1B gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
disease
  • infection
  • weight gain
  • obesity
  • cancer
  • traumatic brain injury
  • schizophrenia
  • schizoaffective disorder
  • bipolar disorder
  • COVID-19
  • vomiting
regulated by
role in cell
  • expression in
  • proliferation
  • depolarization
  • density
  • chemorepulsion
  • outgrowth
  • morphogenesis
  • development
  • action potential
  • extension

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • membrane surface
  • cellular membrane
  • intercellular junctions
  • nodes of Ranvier
  • nerve ending
  • synaptosomes
  • intercalated disks
  • transverse tubules
  • membrane rafts
  • detergent-soluble fraction

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human SCN1B gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • regulation of cardiac muscle cell action potential involved in contraction
  • membrane depolarization involved in regulation of Purkinje myocyte cell action potential
  • membrane depolarization involved in regulation of cardiac muscle cell action potential
  • corticospinal neuron axon guidance
  • regulation of atrial cardiomyocyte membrane depolarization
  • locomotion
  • axon guidance
  • regulation of ventricular cardiomyocyte membrane repolarization
  • cell adhesion
  • cardiac muscle contraction
  • cardiac conduction
  • regulation of sodium ion transmembrane transporter activity
  • positive regulation of sodium ion transport
  • sodium ion transmembrane transport
  • regulation of heart rate by cardiac conduction
  • positive regulation of neuron projection development
  • membrane depolarization
  • neuronal action potential propagation

Cellular Component

Where in the cell the gene product is active
  • T-tubule
  • voltage-gated sodium channel complex
  • intercalated disc
  • node of Ranvier
  • extracellular region
  • perikaryon
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • sodium channel regulator activity
  • protein binding
  • voltage-gated sodium channel activity involved in regulation of cardiac muscle cell action potential
  • sodium channel inhibitor activity
  • ion channel binding
  • voltage-gated sodium channel activity
  • voltage-gated sodium channel activity involved in regulation of Purkinje myocyte action potential

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.