CHRNB1

CHRNB1
Identifiers
Aliases	CHRNB1, ACHRB, CHRNB, CMS1D, CMS2A, SCCMS, CMS2C, cholinergic receptor nicotinic beta 1 subunit
External IDs	MGI: 87890 HomoloGene: 594 GeneCards: CHRNB1
Gene ontology Molecular function • channel activity • acetylcholine binding • acetylcholine receptor activity • acetylcholine-activated cation-selective channel activity • ion channel activity • ligand-gated ion channel activity • extracellular ligand-gated ion channel activity Cellular component • integral component of membrane • acetylcholine-gated channel complex • postsynaptic membrane • membrane • plasma membrane • synapse • integral component of plasma membrane • cell junction Biological process • muscle contraction • regulation of membrane potential • skeletal muscle contraction • cation transport • neurological system process • synaptic transmission, cholinergic • ion transport • behavioral response to nicotine • neuromuscular synaptic transmission • muscle fiber development • postsynaptic membrane organization • transport • signal transduction • cation transmembrane transport • ion transmembrane transport Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1140	11443
Ensembl	ENSG00000170175	ENSMUSG00000041189
UniProt	P11230	P09690
RefSeq (mRNA)	NM_000747	NM_009601
RefSeq (protein)	NP_000738.2	NP_033731.3
Location (UCSC)	Chr 17: 7.45 – 7.46 Mb	Chr 11: 69.78 – 69.8 Mb
PubMed search	[1]	[2]
Wikidata

View/Edit Human

View/Edit Mouse

Acetylcholine receptor subunit beta is a protein that in humans is encoded by the CHRNB1 gene.^[3]

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.^[3]

See also

• Nicotinic acetylcholine receptor

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. "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. 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. 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)

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