Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Scn1b. (This text reflects annotations as of Tuesday, May 21, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Scn1b
  • is located in the following cellular components:
    • intercalated disc ^{[3, 5]}
    • node of Ranvier ^[2]
    • T-tubule ^{[3, 5]}
• The gene product of Scn1b has been shown to bind to the gene products of Ank2, Cdh2. ^[5] Researchers have inferred, based on physical interactions, that the gene product of Scn1b
  • performs the following molecular functions:
  • is located in the following cellular components:
    • sodium channel complex ^[5]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Scn1b
  • participates in the following biological processes:
    • axon guidance ^[1]
    • cardiac conduction ^[4]
    • corticospinal neuron axon guidance ^[1]
    • locomotion ^[2]
    • membrane depolarization involved in regulation of cardiac muscle cell action potential ^[4]
    • neuronal action potential propagation ^[2]
    • regulation of ventricular cardiac muscle cell membrane repolarization ^[4]
    • sodium ion transmembrane transport ^[4]
  • performs the following molecular functions:
    • sodium channel inhibitor activity ^[4]
    • voltage-gated sodium channel activity involved in regulation of cardiac muscle cell action potential ^[4]
• Researchers have inferred, based on genetic interactions, that the gene product of Scn1b
  • participates in the following biological processes:
    • positive regulation of neuron projection development based on interactions with Cntn1, Fyn ^[1]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Scn1b:
  • participates in the following biological processes:
    • cardiac muscle contraction
    • membrane depolarization
    • membrane depolarization involved in regulation of Purkinje myocyte cell action potential
    • positive regulation of sodium ion transport
    • regulation of atrial cardiac muscle cell membrane depolarization
    • regulation of cardiac muscle cell action potential involved in contraction
    • regulation of heart rate by cardiac conduction
    • regulation of sodium ion transmembrane transporter activity
    • regulation of sodium ion transport
    • response to pyrethroid
    • sodium ion transmembrane transport
  • performs the following molecular functions:
    • sodium channel regulator activity
    • voltage-gated sodium channel activity
    • voltage-gated sodium channel activity involved in regulation of cardiac muscle cell action potential
    • voltage-gated sodium channel activity involved in regulation of Purkinje myocyte action potential
  • is located in the following cellular components:
    • voltage-gated sodium channel complex

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Summary text based on GO annotations supported by structural data

• Scn1b encodes a protein or proteins that contain the following InterPro domains: Immunoglobulin, Immunoglobulin-like fold, Sodium channel subunit beta-1/beta-3, indicating that the gene product:
  • participates in the following biological processes:
    • sodium ion transport

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Scn1b indicates that it:
  • participates in the following biological processes:
    • ion transmembrane transport
    • ion transport
    • regulation of ion transmembrane transport
    • sodium ion transmembrane transport
    • sodium ion transport
    • transport
  • performs the following molecular functions:
    • sodium channel activity
    • voltage-gated ion channel activity
  • is located in the following cellular components:
    • integral to membrane
    • membrane

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References

1. Brackenbury WJ et al. (2008) Voltage-gated Na+ channel beta1 subunit-mediated neurite outgrowth requires Fyn kinase and contributes to postnatal CNS development in vivo. J Neurosci, 28:3246-56. (PubMed:18354028)
2. Chen C et al. (2004) Mice lacking sodium channel beta1 subunits display defects in neuronal excitability, sodium channel expression, and nodal architecture. J Neurosci, 24:4030-42. (PubMed:15102918)
3. Dominguez JN et al. (2008) Tissue distribution and subcellular localization of the cardiac sodium channel during mouse heart development. Cardiovasc Res, 78:45-52. (PubMed:18178574)
4. Lopez-Santiago LF et al. (2007) Sodium channel Scn1b null mice exhibit prolonged QT and RR intervals. J Mol Cell Cardiol, 43:636-47. (PubMed:17884088)
5. Malhotra JD et al. (2004) Tyrosine-phosphorylated and nonphosphorylated sodium channel beta1 subunits are differentially localized in cardiac myocytes. J Biol Chem, 279:40748-54. (PubMed:15272007)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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