nicotinic acetylcholine receptor β1 subunit | Nicotinic acetylcholine receptors | IUPHAR/BPS Guide to PHARMACOLOGY

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nicotinic acetylcholine receptor β1 subunit

Target id: 471

Nomenclature: nicotinic acetylcholine receptor β1 subunit

Family: Nicotinic acetylcholine receptors

Annotation status:  image of a green circle Annotated and expert reviewed. Please contact us if you can help with updates.  » Email us

   GtoImmuPdb view: OFF :     Currently no data for nicotinic acetylcholine receptor β1 subunit in GtoImmuPdb

Gene and Protein Information
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human 4 501 17p13.1 CHRNB1 cholinergic receptor nicotinic beta 1 subunit 1
Mouse 4 501 11 B3 Chrnb1 cholinergic receptor, nicotinic, beta polypeptide 1 (muscle) 6
Rat 4 501 10q24 Chrnb1 cholinergic receptor nicotinic beta 1 subunit 8
Previous and Unofficial Names
Acetylcholine receptor beta | acetylcholine receptor subunit beta | Acrb | RNACRB1 | Achr-2 | cholinergic receptor, nicotinic, beta 1 (muscle) | cholinergic receptor, nicotinic beta 1 | cholinergic receptor
Database Links
CATH/Gene3D
ChEMBL Target
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Gene
OMIM
Orphanet
RefSeq Nucleotide
RefSeq Protein
UniProtKB
Wikipedia
Natural/Endogenous Ligands
acetylcholine
Tissue Distribution Comments
The Β1 subunit is widely expressed in vertebrate skeletal muscles
Clinically-Relevant Mutations and Pathophysiology
Disease:  Myasthenic syndrome, congenital, 2A, slow-channel; CMS2A
Synonyms: Congenital myasthenic syndrome [Orphanet: ORPHA590] [Disease Ontology: DOID:3635]
Postsynaptic congenital myasthenic syndromes [Orphanet: ORPHA98913]
Disease Ontology: DOID:3635
OMIM: 616313
Orphanet: ORPHA590, ORPHA98913
Role: 
References:  3-4
Click column headers to sort
Type Species Amino acid change Nucleotide change Description Reference
Missense Human L263M 5
Missense Human V266M 2
Disease:  Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency; CMS2C
Synonyms: Congenital myasthenic syndrome [Orphanet: ORPHA590] [Disease Ontology: DOID:3635]
Postsynaptic congenital myasthenic syndromes [Orphanet: ORPHA98913]
Disease Ontology: DOID:3635
OMIM: 616314
Orphanet: ORPHA98913, ORPHA590
References:  3-4
Click column headers to sort
Type Species Amino acid change Nucleotide change Description Reference
Frameshift Human 250fs Heterozygous skipping of exon 8 (224bp) results in a frameshift after codon 250, predicted to lead to 40 missense codons then a stop codon resulting in a truncated protein. 7
In-frame deletion Human 426delEQE 1276del9 Exon 10. The mutation is in the cytoplasmic loop between regions M3 and M4 of the protein, and impairs the interaction between the β and δ subunits. 7
Gene Expression and Pathophysiology
Low nAChR expression
Tissue or cell type: 
Pathophysiology:  Congenital myasthenic syndromes
Species:  Human
Technique: 
References:  3-4

References

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1. 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]

2. Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, Pruitt 2nd JN, Hutchinson DO, Brengman JM, Bren N et al.. (1996) 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]

3. Engel AG, Ohno K, Sine SM. (2003) Sleuthing molecular targets for neurological diseases at the neuromuscular junction. Nat. Rev. Neurosci., 4 (5): 339-52. [PMID:12728262]

4. Engel AG, Shen XM, Selcen D, Sine SM. (2010) What have we learned from the congenital myasthenic syndromes. J. Mol. Neurosci., 40 (1-2): 143-53. [PMID:19688192]

5. Gomez CM, Maselli R, Gammack J, Lasalde J, Tamamizu S, Cornblath DR, Lehar M, McNamee M, Kuncl RW. (1996) A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome. Ann. Neurol., 39 (6): 712-23. [PMID:8651643]

6. Heidmann O, Buonanno A, Geoffroy B, Robert B, Guénet JL, Merlie JP, Changeux JP. (1986) Chromosomal localization of muscle nicotinic acetylcholine receptor genes in the mouse. Science, 234 (4778): 866-8. [PMID:3022377]

7. Quiram PA, Ohno K, Milone M, Patterson MC, Pruitt NJ, Brengman JM, Sine SM, Engel AG. (1999) Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly. J. Clin. Invest., 104 (10): 1403-10. [PMID:10562302]

8. Witzemann V, Stein E, Barg B, Konno T, Koenen M, Kues W, Criado M, Hofmann M, Sakmann B. (1990) Primary structure and functional expression of the alpha-, beta-, gamma-, delta- and epsilon-subunits of the acetylcholine receptor from rat muscle. Eur. J. Biochem., 194 (2): 437-48. [PMID:1702709]

Contributors

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How to cite this page

Cecilia Gotti, Michael. J. Marks, Neil S. Millar, Susan Wonnacott.
Nicotinic acetylcholine receptors: nicotinic acetylcholine receptor β1 subunit. Last modified on 25/05/2015. Accessed on 21/11/2018. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=471.