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

GO curators for mouse genes have assigned the following annotations to the gene product of Chrng. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of gestation in humans. The gamma subunit of the acetylcholine receptor plays a role in neuromuscular organogenesis and ligand binding and disruption of gamma subunit expression prevents the correct localization of the receptor in cell membranes. Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome. Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia gravis.[provided by RefSeq, Sep 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 Chrng
  • is located in the following cellular components:
    • acetylcholine-gated channel complex ^[2]
    • plasma membrane ^[3]
    • postsynaptic membrane ^[4]
• The gene product of Chrng has been shown to bind to the gene products of Canx, Chrnb1, Chrnd. ^[2]
• Researchers have inferred, based on genetic interactions, that the gene product of Chrng
  • participates in the following biological processes:
    • cation transport based on interactions with Chrna1, Chrnb1, Chrnd ^{[1, 2]}
    • ion transmembrane transport based on interactions with Chrna1, Chrnb1, Chrnd ^{[1, 2]}
    • regulation of membrane potential based on interactions with Chrna1, Chrnb1, Chrnd ^{[1, 2]}
  • performs the following molecular functions:
    • acetylcholine-activated cation-selective channel activity based on interactions with Chrna1, Chrnb1, Chrnd ^{[1, 2]}

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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 Chrng:
  • performs the following molecular functions:
    • acetylcholine-activated cation-selective channel activity
    • ligand-gated ion channel activity

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Summary text based on GO annotations supported by structural data

• Chrng 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

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Chrng 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
    • synapse

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References

1. Gu Y et al. (1990) Properties of embryonic and adult muscle acetylcholine receptors transiently expressed in COS cells. Neuron, 5:147-57. (PubMed:2383398)
2. 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)
3. 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)
4. Yumoto N et al. (2005) The acetylcholine receptor gamma-to-epsilon switch occurs in individual endplates. Biochem Biophys Res Commun, 331:1522-7. (PubMed:15883046)

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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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