SCN1B
Sodium channel regulatory subunit beta-1
Also known as: SCN1B_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q07699
- Gene
- SCN1B
- Ensembl
- ENSG00000105711
- Chromosome
- 19
- Canonical length
- 218 aa
- Protein class
- Disease related genes, FDA approved drug targets, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins, Predicted secreted proteins
- Secretome location
- Secreted in other tissues
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
218 residues, UniProt reviewed canonical sequence.
>Q07699|SCN1B
1 MGRLLALVVG AALVSSACGG CVEVDSETEA VYGMTFKILC ISCKRRSETN AETFTEWTFR
61 QKGTEEFVKI LRYENEVLQL EEDERFEGRV VWNGSRGTKD LQDLSIFITN VTYNHSGDYE
121 CHVYRLLFFE NYEHNTSVVK KIHIEVVDKA NRDMASIVSE IMMYVLIVVL TIWLVAEMIY
181 CYKKIAAATE TAAQENASEY LAITSESKEN CTGVQVAELocalizationUniProt · AlphaFold · HPA
Whether an antibody against SCN1B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.4
- Highest tissue expression
- 551 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 551 nTPM
- cerebellum: 272 nTPM
- tongue: 213 nTPM
- cerebral cortex: 205 nTPM
- heart muscle: 91 nTPM
- basal ganglia: 83 nTPM
Single-cell type
- platelets: 260 nCPM
- innate lymphoid cells: 109 nCPM
- thymic myoid cells: 99 nCPM
- kupffer cells: 90 nCPM
- brain excitatory neurons: 81 nCPM
- hofbauer cells: 64 nCPM
Immune cell
- total PBMC: 0.7 nTPM
- basophil: 0.6 nTPM
- MAIT T-cell: 0.6 nTPM
- myeloid DC: 0.6 nTPM
- neutrophil: 0.6 nTPM
- gdT-cell: 0.3 nTPM
Brain region
- cerebral cortex: 542 nTPM
- thalamus: 325 nTPM
- pons: 253 nTPM
- white matter: 234 nTPM
- hypothalamus: 209 nTPM
- cerebellum: 205 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SCN1B.
Disease | AllUniProt
Conditions SCN1B is implicated in, by any mechanism.
- Generalized epilepsy with febrile seizures plus 1 (GEFSP1) MIM:604233
- Brugada syndrome 5 (BRGDA5) MIM:612838
- Atrial fibrillation, familial, 13 (ATFB13) MIM:615377
- Developmental and epileptic encephalopathy 52 (DEE52) MIM:617350
Disease | GeneticClinVar
37 pathogenic / likely-pathogenic of 707 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Brugada syndrome 5
- Developmental and epileptic encephalopathy, 52
- Generalized epilepsy with febrile seizures plus, type 1
- Atrial fibrillation, familial, 13
- Cardiovascular phenotype
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.26
- gnomAD pLI
- 0.1
- gnomAD missense Z
- 1.22
- DepMap mean gene effect
- 0.05
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- axon guidance
- cardiac conduction
- cardiac muscle cell action potential involved in contraction
- cardiac muscle contraction
- cell adhesion
- locomotion
- membrane depolarization
- membrane depolarization during action potential
- membrane depolarization during cardiac muscle cell action potential
- membrane depolarization during Purkinje myocyte cell action potential
- neuronal action potential propagation
- positive regulation of neuron projection development
- positive regulation of sodium ion transport
- positive regulation of voltage-gated sodium channel activity
- regulation of atrial cardiac muscle cell membrane depolarization
- regulation of heart rate by cardiac conduction
- regulation of sodium ion transmembrane transport
- regulation of ventricular cardiac muscle cell membrane repolarization
- sodium ion transmembrane transport
- corticospinal neuron axon guidance
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SCN1B in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SCN1B as an antibody target. Whether an autoantibody or antibody against SCN1B could matter depends on whether native SCN1B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SCN1B is annotated at the cell surface, where native SCN1B is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label SCN1B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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