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    SCN1B sodium voltage-gated channel beta subunit 1 [ Homo sapiens (human) ]

    Gene ID: 6324, updated on 4-Sep-2016
    Official Symbol
    SCN1Bprovided by HGNC
    Official Full Name
    sodium voltage-gated channel beta subunit 1provided by HGNC
    Primary source
    HGNC:HGNC:10586
    See related
    Ensembl:ENSG00000105711 HPRD:02581; MIM:600235; Vega:OTTHUMG00000182472
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ATFB13; BRGDA5; GEFSP1
    Summary
    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]
    Orthologs
    Location:
    19q13.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (35030688..35040449)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (35521555..35531353)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 792 Neighboring gene GRAM domain containing 1A Neighboring gene hepsin Neighboring gene HPN antisense RNA 1 Neighboring gene sushi, nidogen and EGF like domains 1 pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Adrenergic signaling in cardiomyocytes, organism-specific biosystem (from KEGG)
      Adrenergic signaling in cardiomyocytes, organism-specific biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
    • Adrenergic signaling in cardiomyocytes, conserved biosystem (from KEGG)
      Adrenergic signaling in cardiomyocytes, conserved biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • Cardiac conduction, organism-specific biosystem (from REACTOME)
      Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Interaction between L1 and Ankyrins, organism-specific biosystem (from REACTOME)
      Interaction between L1 and Ankyrins, organism-specific biosystemAnkyrins are a family of adaptor proteins that couple membrane proteins such as voltage gated Na+ channels and the Na+/K+ anion exchanger to the spectrin actin cytoskeleton. Ankyrins are encoded by t...
    • L1CAM interactions, organism-specific biosystem (from REACTOME)
      L1CAM interactions, organism-specific biosystemThe L1 family of cell adhesion molecules (L1CAMs) are a subfamily of the immunoglobulin superfamily of transmembrane receptors, comprised of four structurally related proteins: L1, Close Homolog of L...
    • Muscle contraction, organism-specific biosystem (from REACTOME)
      Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
    • Phase 0 - rapid depolarisation, organism-specific biosystem (from REACTOME)
      Phase 0 - rapid depolarisation, organism-specific biosystemPhase 0 is the rapid depolarisation phase in which electrical stimulation of a cell initiates events involving the influx and efflux of ions resulting in the production of a cell's action potential. ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    axon guidance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cardiac conduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cardiac conduction TAS
    Traceable Author Statement
    more info
     
    cardiac muscle cell action potential involved in contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cardiac muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    PubMed 
    corticospinal neuron axon guidance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    locomotion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    membrane depolarization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane depolarization during Purkinje myocyte cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    membrane depolarization during cardiac muscle cell action potential ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    neuronal action potential propagation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of sodium ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of atrial cardiac muscle cell membrane depolarization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of heart rate by cardiac conduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of postsynaptic membrane potential IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of sodium ion transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of ventricular cardiac muscle cell membrane repolarization ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    response to pyrethroid IEA
    Inferred from Electronic Annotation
    more info
     
    sodium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    T-tubule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    intercalated disc ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    node of Ranvier ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    voltage-gated sodium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    sodium channel subunit beta-1
    Names
    sodium channel, voltage gated, type I beta subunit
    sodium channel, voltage-gated, type I, beta

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_013359.1 RefSeqGene

      Range
      5001..14762
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001037.4NP_001028.1  sodium channel subunit beta-1 isoform a precursor

      See identical proteins and their annotated locations for NP_001028.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (a) represents the longer transcript but encodes the shorter isoform (a).
      Source sequence(s)
      BC067122
      Consensus CDS
      CCDS12441.1
      UniProtKB/Swiss-Prot
      Q07699
      Related
      ENSP00000262631, OTTHUMP00000269390, ENST00000262631, OTTHUMT00000461567
      Conserved Domains (1) summary
      pfam07686
      Location:23123
      V-set; Immunoglobulin V-set domain
    2. NM_001321605.1NP_001308534.1  sodium channel subunit beta-1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (c) encodes an isoform (c) that lacks a predicted signal peptide compared to isoforms a and b.
      Source sequence(s)
      AC020907, BC067122, DA062026
      UniProtKB/Swiss-Prot
      Q07699
      Conserved Domains (1) summary
      pfam07686
      Location:890
      V-set; Immunoglobulin V-set domain
    3. NM_199037.4NP_950238.1  sodium channel subunit beta-1 isoform b precursor

      See identical proteins and their annotated locations for NP_950238.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (b) differs in the 3' UTR and coding region compared to variant a. The resulting isoform (b) is longer and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC020907, AY391842, BC067122
      Consensus CDS
      CCDS46047.1
      UniProtKB/Swiss-Prot
      Q07699
      Related
      ENSP00000396915, OTTHUMP00000269392, ENST00000415950, OTTHUMT00000461569
      Conserved Domains (1) summary
      pfam07686
      Location:23123
      V-set; Immunoglobulin V-set domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

      Range
      35030688..35040449
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      35523533..35533294
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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