ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- 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 arthrogryposis multiplex congenita; congenital myasthenic syndrome 1A; congenital myasthenic syndrome 1B; and myasthenia gravis. 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
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 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| congenital myasthenic syndrome | chrna1dtbn12/dtbn12 | standard conditions | Walogorsky et al., 2012 |
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 |
| Homologous_superfamily | IPR036719 | Neurotransmitter-gated ion-channel transmembrane domain superfamily |
| Homologous_superfamily | IPR036734 | Neurotransmitter-gated ion-channel ligand-binding domain superfamily |
| Homologous_superfamily | IPR038050 | Neuronal acetylcholine receptor |
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 |
- Genome Browsers
| 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 |
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers