CHRNB1

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Cholinergic receptor, nicotinic, beta 1 (muscle)

Identifiers

CHRNB1; CMS2A; SCCMS; ACHRB; CHRNB; CMS1D

External IDs

Gene ontology
Molecular Function:	• nicotinic acetylcholine-activated cation-selective channel activity • ion channel activity • extracellular ligand-gated ion channel activity • channel activity • acetylcholine receptor activity
Cellular Component:	• Golgi apparatus • plasma membrane • integral to plasma membrane • postsynaptic membrane
Biological Process:	• cation transport • muscle contraction • signal transduction • synaptic transmission • synaptic transmission, cholinergic

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000747 (mRNA)
NP_000738 (protein)

NM_009601 (mRNA)
NP_033731 (protein)

Location

Chr 17: 7.29 - 7.3 Mb

Chr 11: 69.6 - 69.61 Mb

Pubmed search

[1]

[2]

Cholinergic receptor, nicotinic, beta 1 (muscle), also known as CHRNB1, is a human gene.^[1]

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.^[1]

1 See also
2 References
3 Further reading
4 External links

[edit] See also

Nicotinic acetylcholine receptor

[edit] References

^ ^a ^b Entrez Gene: CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle).

[edit] 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. 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. 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. 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. 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. 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. 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. 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.

[edit] External links

MeSH CHRNB1+protein,+human

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v • d • e Ion channel, receptor: ligand-gated ion channels

Cys-loop receptors	5-HT/serotonin: 5-HT₃ (A) GABA: GABA A (α₁, α₂, α₃, α₄, α₅, α₆, β₁, β₂, β₃, γ₂, γ₃, δ, ε, π), GABA C (ρ₁, ρ₂) Glycine: α₁, α₂, β Nicotinic acetylcholine: α1, α2, α3, α4, α5, α7, α9, β1, β2, β3, β4, δ, ε, combinations ((α4)₂(β2)₃, (α7)₅, Ganglion type, Muscle type)

Ionotropic glutamates	AMPA (1, 2, 3, 4) - Kainate (1, 2, 3, 5) - NMDA (1, 2A, 2B, 2C, 2D)

ATP-gated channels	Purinergic receptors: P2X (1, 2, 3, 4, 5, 6, 7)