Seroatlas · Human Serome Atlas

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 CTGVQVAE

LocalizationUniProt · 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.

Disease | GeneticClinVar

37 pathogenic / likely-pathogenic of 707 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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

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.

Canonical record: https://seroatlas.com/gene/SCN1B. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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