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CHRNA1 - cholinergic receptor, nicotinic, alpha 1 (muscle)
Entrez Gene Name: cholinergic receptor, nicotinic, alpha 1 (muscle)
Synonyms: ACCHOR ALPHA, Acchor alpha-subunit, ACHR-1, ACHRA, ACHRD, Acra, AI385656, AI608266, CHOLINERGIC RECEPTOR, CHRNA, CHRNA1, CMS2A, FCCMS, NACHR ALPHA 1, Nicotinic acetylcholine receptor, NICOTINIC ACETYLCHOLINE RECEPTOR ALPHA SUBUNIT 1, SCCMS

Gene Summary

  • Human (1134): The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha isoforms and 1 each of beta, gamma, and delta subunits.2 This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq]
  • Rat (79557): alpha subunit of the AChR gamma and AChR epsilon acetylcholine receptor subtypes [RGD]

Cell Regulation

Regulates:
  • CD86
  • CD28
  • CTLA4
View all 28 in IPA
Regulated by:
  • acetylcholine
  • MUSK
  • nicotine
View all 61 in IPA
Binds:
  • CHRND
  • nicotine
  • acetylcholine
View all 32 in IPA
Role in cell:
  • proliferation
  • depolarization
  • transmembrane potential
View all 15 in IPA
Disease:
  • experimental autoimmune myasthenia gravis
  • Alzheimer's disease
  • insomnia
View all 36 in IPA

Biological Process

ion transport, muscle maintenance, neuromuscular junction development, neuromuscular process, neuromuscular synaptic transmission, neuron maintenance, regulation of action potential in neuron, regulation of membrane potential, signal transduction, skeletal muscle contraction, skeletal muscle tissue growth, transport

Cellular Components

cell junction, cell surface, integral to membrane, membrane, neuromuscular junction, nicotinic acetylcholine-gated receptor-channel complex, plasma membrane, postsynaptic membrane, synapse

Literature References

  • 18591431Kumari S, Borroni V, Chaudhry A, Chanda B, Massol R, Mayor S, Barrantes FJ. Nicotinic acetylcholine receptor is internalized via a Rac-dependent, dynamin-independent endocytic pathway.J Cell Biol 2008 Jun 30;181(7):1179-93
  • 10845060Lester HA, Karschin A. Gain of function mutants: ion channels and G protein-coupled receptors.Annu Rev Neurosci 2000;23:89-125
  • 15308777Sela M, Mozes E. Therapeutic vaccines in autoimmunity.Proc Natl Acad Sci U S A 2004 Oct 05;101 Suppl 2:14586-92
  • View 527 categorized literature findings and their references in IPA

Molecular Functions

acetylcholine binding, acetylcholine receptor activity, extracellular ligand-gated ion channel activity, ion channel activity, neurotransmitter receptor activity, nicotinic acetylcholine-activated cation-selective channel activity, receptor activity

Protein Domains

acetylcholine binding, acetylcholine receptor, extracellular domain, extracellular ligand binding domain, ion channel, neurotransmitter-gated ion channel ligand binding domain, nicotinic acetylcholine-activated cation-selective channel, transmembrane receptor

Subcellular Locations

cell surface, cellular membrane, plasma membrane