Gene
chrna1
- ID
- ZDB-GENE-980526-137
- Name
- cholinergic receptor, nicotinic, alpha 1 (muscle)
- Symbol
- chrna1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Enables monoatomic cation channel activity. Contributes to acetylcholine binding activity and acetylcholine receptor activity. Acts upstream of or within several processes, including chemical synaptic transmission; chondrocyte intercalation involved in growth plate cartilage morphogenesis; and skeletal muscle fiber development. Part of acetylcholine-gated channel complex. Is expressed in adaxial cell; musculature system; and somite. Used to study congenital myasthenic syndrome. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 1A and congenital myasthenic syndrome 1B. Orthologous to human CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 39 figures from 24 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 23 figures from 10 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-chrna1 | (2) | |
| CRISPR2-chrna1 | Davis et al., 2021 | |
| MO1-chrna1 | N/A | Mongeon et al., 2011 |
| MO2-chrna1 | N/A | Brent et al., 2002 |
1 - 4 of 4
Show
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital myasthenic syndrome 1A | Alliance | Myasthenic syndrome, congenital, 1A, slow-channel | 601462 |
| congenital myasthenic syndrome 1B | Alliance | Myasthenic syndrome, congenital, 1B, fast-channel | 608930 |
| contractures, pterygia, and spondylocarpotarsal fusion syndrome | Alliance | Multiple pterygium syndrome, lethal type | 253290 |
1 - 3 of 3
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| congenital myasthenic syndrome | chrna1dtbn12/dtbn12 | standard conditions | Walogorsky et al., 2012 |
1 - 1 of 1
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 |
1 - 5 of 8 Show all
Domain Details Per Protein
| Protein | Additional Resources | 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:Q98880 | InterPro | 456 |
1 - 1 of 1
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
chrna1-201
(1)
|
Ensembl | 2,187 nt | ||
| mRNA |
chrna1-202
(1)
|
Ensembl | 560 nt | ||
| ncRNA |
chrna1-002
(1)
|
Ensembl | 799 nt |
1 - 3 of 3
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-91G17 | ZFIN Curated Data | |
| Contains | SNP | rs3727947 | Stickney et al., 2002 | |
| Encodes | cDNA | MGC:86593 | ZFIN Curated Data |
1 - 3 of 3
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_131445 (1) | 2218 nt | ||
| Genomic | GenBank:CT573297 (2) | 61348 nt | ||
| Polypeptide | UniProtKB:Q98880 (1) | 456 aa |
- Bai, C., Zheng, Y., Tian, L., Lin, J., Song, Y., Huang, C., Dong, Q., Chen, J. (2023) Structure-based developmental toxicity and ASD-phenotypes of bisphenol A analogues in embryonic zebrafish. Ecotoxicology and environmental safety. 253:114643114643
- De Pace, R., Maroofian, R., Paimboeuf, A., Zamani, M., Zaki, M.S., Sadeghian, S., Azizimalamiri, R., Galehdari, H., Zeighami, J., Williamson, C.D., Fleming, E., Zhou, D., Gannon, J.L., Thiffault, I., Roze, E., Suri, M., Zifarelli, G., Bauer, P., Houlden, H., Severino, M., Patten, S.A., Farrow, E., Bonifacino, J.S. (2023) Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics. Brain : a journal of neurology. 147(5):1751-1767
- Campanari, M.L., Marian, A., Ciura, S., Kabashi, E. (2021) TDP-43 Regulation of AChE Expression Can Mediate ALS-Like Phenotype in Zebrafish. Cells. 10(2):
- Davis, A.E., Castranova, D., Weinstein, B.M. (2021) Rapid Generation of Pigment Free, Immobile Zebrafish Embryos and Larvae in Any Genetic Background Using CRISPR-Cas9 dgRNPs. Zebrafish. 18(4):235-242
- 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
- Amin, M.R., Ahmed, K.T., Ali, D.W. (2020) Early Exposure to THC Alters M-Cell Development in Zebrafish Embryos. Biomedicines. 8(1):
- Becerra-Amezcua, M.P., Hernández-Sámano, A.C., Puch-Hau, C., Aguilar, M.B., Collí-Dulá, R.C. (2020) Effect of pterois volitans (lionfish) venom on cholinergic and dopaminergic systems. Environmental Toxicology and Pharmacology. 77:103359
- Bourefis, A.R., Campanari, M.L., Buee-Scherrer, V., Kabashi, E. (2020) Functional characterization of a FUS mutant zebrafish line as a novel genetic model for ALS. Neurobiology of disease. 142:104935
- Pedersen, J.E., Bergqvist, C.A., Larhammar, D. (2019) Evolution of vertebrate nicotinic acetylcholine receptors. BMC Evolutionary Biology. 19:38
- Bose, P., Armstrong, G.A.B., Drapeau, P. (2018) Neuromuscular junction abnormalities in a zebrafish loss-of-function model of TDP-43. Journal of neurophysiology. 121(1):285-297
1 - 10 of 72
Show