Gene
ryr1b
- ID
- ZDB-GENE-070705-417
- Name
- ryanodine receptor 1b (skeletal)
- Symbol
- ryr1b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Enables ryanodine-sensitive calcium-release channel activity. Involved in skeletal muscle fiber development and smoothened signaling pathway. Acts upstream of or within cellular response to oxidative stress; larval locomotory behavior; and twitch 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; heart; skeletal muscle cell; trunk; and trunk musculature. Human ortholog(s) of this gene implicated in congestive heart failure (multiple); intracranial vasospasm; and muscle tissue disease (multiple). Orthologous to human RYR1 (ryanodine receptor 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 15 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7137738 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 16 figures from 7 publications
- Cross-Species Comparison
- Alliance
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 |
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Domain, Family, and Site Summary
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:A0A8M6YTI2
|
5109 | ||||||||||||||||||||
|
UniProtKB:A6P4B8
|
5076 | ||||||||||||||||||||
|
UniProtKB:A0A8M6YVZ9
|
5089 | ||||||||||||||||||||
|
UniProtKB:A0A8M6YU63
|
5098 | ||||||||||||||||||||
|
UniProtKB:A0A8M9PM90
|
5097 |
1 - 5 of 12 Show all
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available