CHRNB1

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

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
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 69,784,036 bp[2] End 69,795,943 bp[2]
RNA expression pattern 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 • cell 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 • muscle fiber development • postsynaptic membrane organization • signal transduction • cation transmembrane transport • postsynaptic 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: 69.78 – 69.8 Mb
PubMed search	[3]	[4]
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.[5]

See also

• Nicotinic acetylcholine receptor

References

1. ENSG00000283946 GRCh38: Ensembl release 89: ENSG00000170175, ENSG00000283946 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000041189 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)".

Further reading

• Kraus H (1977). "Research methods in the biomechanics of sports". Orthop. Clin. North Am. 8 (3): 549–62. 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. doi:10.1016/0014-5793(92)81380-5. PMID 1397297.
• 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.
• 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.
• 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.

External links

• CHRNB1+protein,+human at the US 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.