Nomenclature: β1

Family: Nicotinic acetylcholine receptors

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

Contents

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 (muscle) 1
Mouse 4 501 11 B3 Chrnb1 cholinergic receptor, nicotinic, beta polypeptide 1 (muscle) 4
Rat 4 501 10q24 Chrnb1 cholinergic receptor, nicotinic, beta 1 (muscle) 5
Previous and Unofficial Names
CHRNB
cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)
acetylcholine receptor, nicotinic, beta 1 (muscle)
Acrb
RNACRB1
Acetylcholine receptor beta
acetylcholine receptor subunit beta
cholinergic receptor nicotinic beta polypeptide 1
cholinergic receptor, nicotinic, beta polypeptide 1
Achr-2
AChR beta
Database Links
ChEMBL Target
Ensembl Gene
Entrez Gene
GeneCards
GenitoUrinary Development Molecular Anatomy Project
HomoloGene
Human Protein Reference Database
InterPro
KEGG Gene
OMIM
Orphanet Gene
PharmGKB Gene
PhosphoSitePlus
Protein Ontology (PRO)
RefSeq Nucleotide
RefSeq Protein
TreeFam
UniGene Hs.
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:  Slow-channel congenital myasthenic syndromes
OMIM:  100710
Role: 
References:  2-3
Click column headers to sort
Type Species Molecular location Description Reference
Missense Human multiple 2-3
Disease:  Congenital myasthenic syndromes
OMIM:  601462, 608931
Orphanet:  98913
References:  2-3
Click column headers to sort
Type Species Molecular location Description Reference
Missense Human multiple 2-3
Gene Expression and Pathophysiology
Low nAChR expression
Tissue or cell type: 
Pathophysiology:  Congenital myasthenic syndromes
Species:  Human
Technique: 
References:  2-3

REFERENCES

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

3. 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]

4. 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. Science234 (4778): 866-8. [PMID:3022377]

5. 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]

To cite this database page, please use the following:

Cecilia Gotti, Michael. J. Marks, Neil S. Millar, Susan Wonnacott.
Nicotinic acetylcholine receptors: β1. Last modified on 17/03/2014. Accessed on 20/08/2014. IUPHAR database (IUPHAR-DB), http://www.iuphar-db.org/DATABASE/ObjectDisplayForward?objectId=471.

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