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

GO curators for mouse genes have assigned the following annotations to the gene product of Chrnb1. (This text reflects annotations as of Wednesday, January 23, 2013.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of September 20, 2007. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. [provided by RefSeq, Jul 2008]

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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 Chrnb1
  • is located in the following cellular components:
    • acetylcholine-gated channel complex ^[3]
    • plasma membrane ^[4]
• The gene product of Chrnb1 has been shown to bind to the gene products of Canx, Chrnd, Chrng. ^[3]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Chrnb1
  • performs the following molecular functions:
    • acetylcholine binding ^[1]
• Researchers have inferred, based on genetic interactions, that the gene product of Chrnb1
  • participates in the following biological processes:
    • cation transport based on interactions with Chrnd, Chrng ^[3]
    • ion transmembrane transport based on interactions with Chrnd, Chrng ^[3]
    • regulation of membrane potential based on interactions with Chrna1, Chrnd, Chrne, Chrng ^{[2, 3]}
  • performs the following molecular functions:
    • acetylcholine-activated cation-selective channel activity based on interactions with Chrna1, Chrnd, Chrne, Chrng ^{[2, 3]}

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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 Chrnb1:
  • participates in the following biological processes:
    • behavioral response to nicotine
    • cation transport
    • muscle contraction
    • muscle fiber development
    • neurological system process
    • neuromuscular synaptic transmission
    • postsynaptic membrane organization
    • signal transduction
    • synaptic transmission, cholinergic
  • performs the following molecular functions:
    • acetylcholine-activated cation-selective channel activity
    • channel activity
    • ligand-gated ion channel activity
  • is located in the following cellular components:
    • acetylcholine-gated channel complex
    • synapse

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Summary text based on GO annotations supported by structural data

• Chrnb1 encodes a protein or proteins that contain the following InterPro domains: Neurotransmitter-gated ion-channel, Neurotransmitter-gated ion-channel ligand-binding, Neurotransmitter-gated ion-channel transmembrane domain, Neurotransmitter-gated ion-channel, conserved site, Nicotinic acetylcholine receptor, indicating that the gene product:
  • participates in the following biological processes:
    • ion transport
    • transport
  • performs the following molecular functions:
    • extracellular ligand-gated ion channel activity
    • ion channel activity
  • is located in the following cellular components:
    • integral to membrane
    • membrane
    • postsynaptic membrane

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Chrnb1 indicates that it:
  • participates in the following biological processes:
    • ion transport
    • transport
  • performs the following molecular functions:
    • ion channel activity
  • is located in the following cellular components:
    • cell junction
    • integral to membrane
    • membrane
    • postsynaptic membrane

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References

1. Engel AG et al. (1996) New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. Hum Mol Genet, 5:1217-27. (PubMed:8872460)
2. Gu Y et al. (1990) Properties of embryonic and adult muscle acetylcholine receptors transiently expressed in COS cells. Neuron, 5:147-57. (PubMed:2383398)
3. Keller SH et al. (1996) Involvement of the chaperone protein calnexin and the acetylcholine receptor beta-subunit in the assembly and cell surface expression of the receptor. J Biol Chem, 271:22871-7. (PubMed:8798466)
4. Marchand S et al. (2002) Rapsyn escorts the nicotinic acetylcholine receptor along the exocytic pathway via association with lipid rafts. J Neurosci, 22:8891-901. (PubMed:12388596)

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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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