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 enable calcium-induced calcium release activity and ryanodine-sensitive calcium-release channel activity. Involved in nervous system development; skeletal muscle fiber development; and smoothened signaling pathway. Acts upstream of or within skeletal muscle contraction. Predicted to be located in membrane and sarcoplasmic reticulum. Predicted to be part of calcium channel complex. Predicted to be active in Z disc; endoplasmic reticulum; and sarcolemma. Is expressed in adaxial cell; slow muscle cell; somite; trunk; and trunk musculature. Human ortholog(s) of this gene implicated in central core disease; malignant hyperthermia; and multiminicore disease. 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