Gene
chrnb1
- ID
- ZDB-GENE-070821-4
- Name
- cholinergic receptor, nicotinic, beta 1 (muscle)
- Symbol
- chrnb1 Nomenclature History
- Previous Names
-
- AChR beta1b (1)
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Contributes to acetylcholine receptor activity. Acts upstream of or within cholinergic synaptic transmission. Part of acetylcholine-gated channel complex. Is expressed in skeletal muscle. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 2A and congenital myasthenic syndrome 2C. Orthologous to human CHRNB1 (cholinergic receptor nicotinic beta 1 subunit).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
No data available
No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital myasthenic syndrome 2A | Alliance | Myasthenic syndrome, congenital, 2A, slow-channel | 616313 |
| congenital myasthenic syndrome 2C | Alliance | ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency | 616314 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018000 | Neurotransmitter-gated ion-channel, conserved site |
| Domain | IPR006029 | Neurotransmitter-gated ion-channel transmembrane domain |
| Domain | IPR006202 | Neurotransmitter-gated ion-channel ligand-binding domain |
| Family | IPR002394 | Nicotinic acetylcholine receptor |
| Family | IPR006201 | Neurotransmitter-gated ion-channel |
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Domain Details Per Protein
| Protein | Length | Neuronal acetylcholine receptor | Neurotransmitter-gated ion-channel | Neurotransmitter-gated ion-channel, conserved site | Neurotransmitter-gated ion-channel ligand-binding domain | Neurotransmitter-gated ion-channel ligand-binding domain superfamily | Neurotransmitter-gated ion-channel transmembrane domain | Neurotransmitter-gated ion-channel transmembrane domain superfamily | Nicotinic acetylcholine receptor |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:G1FMP8
|
492 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
chrnb1-201
(1)
|
Ensembl | 4,412 nt | ||
| ncRNA |
chrnb1-002
(1)
|
Ensembl | 990 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-112A7 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001253810 (1) | 1479 nt | ||
| Genomic | GenBank:BX005310 (1) | 221979 nt | ||
| Polypeptide | UniProtKB:G1FMP8 (1) | 492 aa |
- Lu, S., Lyu, Z., Wang, Z., Kou, Y., Liu, C., Li, S., Hu, M., Zhu, H., Wang, W., Zhang, C., Kuan, Y.S., Liu, Y.W., Chen, J., Tian, J. (2021) Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish. Theranostics. 11:2788-2805
- Pedersen, J.E., Bergqvist, C.A., Larhammar, D. (2019) Evolution of vertebrate nicotinic acetylcholine receptors. BMC Evolutionary Biology. 19:38
- Paatero, I., Veikkolainen, V., Mäenpää, M., Schmelzer, E., Belting, H.G., Pelliniemi, L.J., Elenius, K. (2018) ErbB4 tyrosine kinase inhibition impairs neuromuscular development in zebrafish embryos. Molecular biology of the cell. 30(2):209-218
- Ahmed, K.T., Ali, D.W. (2016) Nicotinic acetylcholine receptors (nAChRs) at zebrafish red and white muscle show different properties during development. Developmental Neurobiology. 76(8):916-36
- Papke, R.L., Ono, F., Stokes, C., Urban, J., and Boyd, R.T. (2012) The nicotinic acetylcholine receptors of zebrafish and an evaluation of pharmacological tools used for their study. Biochemical pharmacology. 84(3):352-365
- Mongeon, R., Walogorsky, M., Urban, J., Mandel, G., Ono, F., and Brehm, P. (2011) An acetylcholine receptor lacking both γ and ε subunits mediates transmission in zebrafish slow muscle synapses. The Journal of general physiology. 138(3):353-66
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