CHRNB1 - cholinergic receptor, nicotinic, beta 1 (muscle)
Entrez Gene Name: cholinergic receptor, nicotinic, beta 1 (muscle)
Entrez GeneID: Human(1140)
, Mouse(11443), Rat(24261)
, Mouse(11443), Rat(24261) Synonyms: Achr-2, ACHRB, Acrb, CHRNB, CHRNB1, CMS1D, CMS2A, FLJ57107, nAChR Beta1, RNACRB1, SCCMS
Gene Summary
- Human (1140): 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]
- Rat (24261): beta subunit of the nicotinic acetylcholine receptor; can assemble into functionally different acetylcholine receptor channel subtypes [RGD]
Molecular Functions | Biological Process | Cellular Components | Protein Domains | Subcellular Locations | Pathways | Literature References | IPA Extras
Cell Regulation
Disease:
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Biological Process
behavioral response to nicotine, cation transport, ion transport, muscle contraction, muscle fiber development, neurological system process, neuromuscular synaptic transmission, postsynaptic membrane organization, regulation of membrane potential, signal transduction, synaptic transmission, cholinergic, transport
Cellular Components
cell junction, integral to membrane, membrane, 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
- 15502875John B, Enright AJ, Aravin A, Tuschl T, Sander C, Marks DS. Human MicroRNA targets.PLoS Biol 2004 11 1;2(11):e363 View 392 categorized literature findings and their references in IPA
Molecular Functions
acetylcholine binding, acetylcholine receptor activity, channel activity, extracellular ligand-gated ion channel activity, ion channel activity, ligand-gated ion channel activity, neurotransmitter receptor activity, nicotinic acetylcholine-activated cation-selective channel activity, protein binding, receptor activity
Protein Domains
acetylcholine binding, acetylcholine receptor, channel/pore class transporter, extracellular ligand binding domain, ligand-gated ion channel, neurotransmitter-gated ion channel ligand binding domain, nicotinic acetylcholine-activated cation-selective channel, protein binding, transmembrane receptor
