Gene
ryr1a
- ID
- ZDB-GENE-020108-2
- Name
- ryanodine receptor 1a (skeletal)
- Symbol
- ryr1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to have calcium ion binding activity; calcium-induced calcium release activity; and ryanodine-sensitive calcium-release channel activity. Involved in smoothened signaling pathway. Predicted to localize to several cellular components, including Z disc; endoplasmic reticulum; and sarcolemma. Human ortholog(s) of this gene implicated in central core myopathy and malignant hyperthermia. Is expressed in adaxial cell; slow muscle cell; somite; trunk; and trunk musculature. Orthologous to human RYR1 (ryanodine receptor 1).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 12 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
congenital myopathy 1A | Alliance | Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia | 117000 |
congenital myopathy 1B | Alliance | Congenital myopathy 1B, autosomal recessive | 255320 |
King Denborough syndrome | Alliance | King-Denborough syndrome | 619542 |
{Malignant hyperthermia susceptibility 1} | 145600 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
Protein | Length |
---|---|
UniProtKB:A0A8M9Q3E5
|
2924 |
UniProtKB:A0A8M3B6F3
|
5063 |
UniProtKB:A0A8M9Q046
|
2930 |
UniProtKB:A0A8M9PAE5
|
2932 |
UniProtKB:A0A8M9PSX0
|
2920 |
UniProtKB:A0A8M9PLS9
|
2926 |
UniProtKB:A0A8M9QL69
|
5069 |
Interactions and Pathways
No data available
Plasmids
No data available