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nicotinic acetylcholine receptor β1 subunit

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Target not currently curated in GtoImmuPdb

Target id: 471

Nomenclature: nicotinic acetylcholine receptor β1 subunit

Family: Nicotinic acetylcholine receptors (nACh)

Contents:

Gene and Protein Information Click here for help
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 42.87 cM 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 Click here for help
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 Click here for help
Alphafold P11230 (Hs)
CATH/Gene3D 2.70.170.10
ChEMBL Target CHEMBL1907588 (Hs), CHEMBL4106145 (Hs), CHEMBL3885508 (Hs), CHEMBL3137264 (Mm), CHEMBL3038460 (Mm), CHEMBL3885509 (Rn), CHEMBL4523658 (Rn)
Ensembl Gene ENSG00000170175 (Hs), ENSMUSG00000041189 (Mm), ENSRNOG00000014698 (Rn)
Entrez Gene 1140 (Hs), 11443 (Mm), 24261 (Rn)
Human Protein Atlas ENSG00000170175 (Hs)
KEGG Gene hsa:1140 (Hs), mmu:11443 (Mm), rno:24261 (Rn)
OMIM 100710 (Hs)
Orphanet ORPHA119419 (Hs)
Pharos P11230 (Hs)
RefSeq Nucleotide NM_000747 (Hs), NM_009601 (Mm), NM_012528 (Rn)
RefSeq Protein NP_000738 (Hs), NP_033731 (Mm), NP_036660 (Rn)
UniProtKB P11230 (Hs), P09690 (Mm), P25109 (Rn)
Wikipedia CHRNB1 (Hs)
Natural/Endogenous Ligands Click here for help
acetylcholine
Tissue Distribution Comments
The Β1 subunit is widely expressed in vertebrate skeletal muscles
Clinically-Relevant Mutations and Pathophysiology Click here for help
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:  low nAChR expression
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 Click here for help
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]

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