CHRNB1

Acetylcholine receptor subunit beta is a protein that in humans is encoded by the CHRNB1 gene.^[5]

AliasesCHRNB1, ACHRB, CHRNB, CMS1D, CMS2A, SCCMS, CMS2C, cholinergic receptor nicotinic beta 1 subunit

External IDsOMIM: 100710; MGI: 87890; HomoloGene: 594; GeneCards: CHRNB1; OMA:CHRNB1 - orthologs

Chr.Chromosome 17 (human)^[1]

End7,457,710 bp^[1]

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CHRNB1
Identifiers
Aliases	CHRNB1, ACHRB, CHRNB, CMS1D, CMS2A, SCCMS, CMS2C, cholinergic receptor nicotinic beta 1 subunit
External IDs	OMIM: 100710; MGI: 87890; HomoloGene: 594; GeneCards: CHRNB1; OMA:CHRNB1 - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17p13.1 Start 7,445,061 bp[1] End 7,457,710 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11 B3|11 42.87 cM Start 69,674,862 bp[2] End 69,686,769 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastrocnemius muscle muscle of thigh skeletal muscle tissue right adrenal cortex left adrenal gland left adrenal cortex placenta right lobe of liver amygdala granulocyte Top expressed in muscle of thigh extraocular muscle ankle ankle joint vastus lateralis muscle temporal muscle thoracic diaphragm tongue muscle medial head of gastrocnemius muscle tibialis anterior muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function channel activity acetylcholine binding acetylcholine receptor activity ion channel activity ligand-gated ion channel activity extracellular ligand-gated ion channel activity acetylcholine-gated cation-selective channel activity transmembrane signaling receptor activity transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential Cellular component integral component of membrane acetylcholine-gated channel complex postsynaptic membrane membrane plasma membrane synapse integral component of plasma membrane cell junction neuromuscular junction integral component of postsynaptic specialization membrane neuron projection Biological process muscle contraction regulation of membrane potential skeletal muscle contraction cation transport nervous system process synaptic transmission, cholinergic ion transport behavioral response to nicotine neuromuscular synaptic transmission postsynaptic membrane organization signal transduction cation transmembrane transport regulation of postsynaptic membrane potential excitatory postsynaptic potential ion transmembrane transport chemical synaptic transmission response to nicotine Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1140 11443 Ensembl ENSG00000170175 ENSG00000283946 ENSMUSG00000041189 UniProt P11230 P09690 RefSeq (mRNA) NM_000747 NM_009601 RefSeq (protein) NP_000738 NP_033731 Location (UCSC) Chr 17: 7.45 – 7.46 Mb Chr 11: 69.67 – 69.69 Mb PubMed search [3] [4]
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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.^[5]