CHRNB1

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

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) Band 17p13.1 Start 7,445,061 bp End 7,457,710 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11 B3|11 42.87 cM Start 69,674,862 bp End 69,686,769 bp
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
Wikidata
View/Edit Human View/Edit Mouse

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.

See also

• Nicotinic acetylcholine receptor

Further reading

• Kraus H (1977). "Research methods in the biomechanics of sports". Orthop. Clin. North Am. 8 (3): 549–62. doi:10.1016/S0030-5898(20)30676-3. PMID 887246.
• Bracci L, Lozzi L, Rustici M, Neri P (1992). "Binding of HIV-1 gp120 to the nicotinic receptor". FEBS Lett. 311 (2): 115–8. Bibcode:1992FEBSL.311..115B. doi:10.1016/0014-5793(92)81380-5. PMID 1397297. S2CID 22571925.
• Beeson D, Jeremiah S, West LF, et al. (1990). "Assignment of the human nicotinic acetylcholine receptor genes: the alpha and delta subunit genes to chromosome 2 and the beta subunit gene to chromosome 17". Ann. Hum. Genet. 54 (Pt 3): 199–208. doi:10.1111/j.1469-1809.1990.tb00378.x. PMID 2221824. S2CID 151624.
• Beeson D, Brydson M, Newsom-Davis J (1989). "Nucleotide sequence of human muscle acetylcholine receptor beta-subunit". Nucleic Acids Res. 17 (11): 4391. doi:10.1093/nar/17.11.4391. PMC 317965. PMID 2740233.
• Gomez CM, Maselli R, Gammack J, et al. (1996). "A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome". Ann. Neurol. 39 (6): 712–23. doi:10.1002/ana.410390607. PMID 8651643. S2CID 12269544.
• Engel AG, Ohno K, Milone M, et al. (1997). "New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome". Hum. Mol. Genet. 5 (9): 1217–27. doi:10.1093/hmg/5.9.1217. PMID 8872460.
• Quiram PA, Ohno K, Milone M, et al. (1999). "Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly". J. Clin. Invest. 104 (10): 1403–10. doi:10.1172/JCI8179. PMC 409847. PMID 10562302.
• Cousin P, Billotte J, Chaubert P, Shaw P (2000). "Physical map of 17p13 and the genes adjacent to p53". Genomics. 63 (1): 60–8. doi:10.1006/geno.1999.6062. PMID 10662545.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Sadasivam G, Willmann R, Lin S, et al. (2006). "Src-family kinases stabilize the neuromuscular synapse in vivo via protein interactions, phosphorylation, and cytoskeletal linkage of acetylcholine receptors". J. Neurosci. 25 (45): 10479–93. doi:10.1523/JNEUROSCI.2103-05.2005. PMC 6725837. PMID 16280586.
• Lou XY, Ma JZ, Payne TJ, et al. (2007). "Gene-based analysis suggests association of the nicotinic acetylcholine receptor beta1 subunit (CHRNB1) and M1 muscarinic acetylcholine receptor (CHRM1) with vulnerability for nicotine dependence". Hum. Genet. 120 (3): 381–9. doi:10.1007/s00439-006-0229-7. PMID 16874522. S2CID 3162300.

External links

• CHRNB1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Human CHRNB1 genome location and CHRNB1 gene details page in the UCSC Genome Browser.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.