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
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000699 | RIH domain |
| Domain | IPR001870 | B30.2/SPRY domain |
| Domain | IPR003032 | Ryanodine receptor Ryr |
| Domain | IPR003877 | SPRY domain |
| Domain | IPR005821 | Ion transport domain |
| Domain | IPR009460 | Ryanodine Receptor TM 4-6 |
| Domain | IPR013662 | RyR/IP3R Homology associated domain |
| Domain | IPR014821 | Inositol 1,4,5-trisphosphate/ryanodine receptor |
| Domain | IPR016093 | MIR motif |
| Domain | IPR035761 | Ryanodine receptor, SPRY domain 1 |
| Domain | IPR035762 | Ryanodine receptor, SPRY domain 3 |
| Domain | IPR035764 | Ryanodine receptor, SPRY domain 2 |
| Domain | IPR048581 | Ryanodine receptor, junctional solenoid domain |
| Family | IPR013333 | Ryanodine receptor |
| Family | IPR015925 | Ryanodine/Inositol 1,4,5-trisphosphate receptor |
| Homologous_superfamily | IPR011992 | EF-hand domain pair |
| Homologous_superfamily | IPR013320 | Concanavalin A-like lectin/glucanase domain superfamily |
| Homologous_superfamily | IPR035910 | RyR/IP3 receptor binding core, RIH domain superfamily |
| Homologous_superfamily | IPR036300 | Mir domain superfamily |
| Homologous_superfamily | IPR043136 | B30.2/SPRY domain superfamily |
Domain Details Per Protein
| Protein | Length | B30.2/SPRY domain | B30.2/SPRY domain superfamily | Concanavalin A-like lectin/glucanase domain superfamily | EF-hand domain pair | Inositol 1,4,5-trisphosphate/ryanodine receptor | Ion transport domain | Mir domain superfamily | MIR motif | RIH domain | Ryanodine/Inositol 1,4,5-trisphosphate receptor | Ryanodine receptor | Ryanodine receptor, junctional solenoid domain | Ryanodine receptor Ryr | Ryanodine receptor, SPRY domain 1 | Ryanodine receptor, SPRY domain 2 | Ryanodine receptor, SPRY domain 3 | Ryanodine Receptor TM 4-6 | RyR/IP3 receptor binding core, RIH domain superfamily | RyR/IP3R Homology associated domain | SPRY domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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