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Target not currently curated in GtoImmuPdb
Target id: 471
Nomenclature: nicotinic acetylcholine receptor β1 subunit
Gene and Protein Information  |
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| 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 1 subunit | 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 |
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| Alphafold | P11230 (Hs), P09690 (Mm), P25109 (Rn) |
| CATH/Gene3D | 2.70.170.10 |
| ChEMBL Target | CHEMBL1907588 (Hs), CHEMBL3885508 (Hs), CHEMBL4106145 (Hs), CHEMBL3137264 (Mm), CHEMBL3038460 (Mm), CHEMBL4523658 (Rn), CHEMBL3885509 (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 |
| acetylcholine |
| Tissue Distribution Comments | |
| The Β1 subunit is widely expressed in vertebrate skeletal muscles |
| Clinically-Relevant Mutations and Pathophysiology
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| Gene Expression and Pathophysiology
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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]
