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MIRAGE
ryanodine receptor 1, skeletal muscle
Summary
- Gene Symbol
-
- Ryr1
- Organism
- Mus musculus (house mouse)
Annotation
- Keyword
-
- 3D-structure
- ATP-binding
- Calcium channel
- Calmodulin-binding
- Developmental protein
- Ligand-gated ion channel
- Metal-binding
- Phosphoprotein
- Receptor
- Reference proteome
- Repeat
- S-nitrosylation
- Sarcoplasmic reticulum
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| E9PZQ0 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| response to hypoxia |
|
|
| response to hypoxia |
|
|
| outflow tract morphogenesis |
|
|
| monoatomic ion transport |
|
|
| ion transport |
|
GO Hierarchy
biological process
cellular process [inference]
response to stimulus [inference]
localization [inference]
biological regulation [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| plasma membrane |
|
|
| cell cortex |
|
|
| cell cortex |
|
|
| cytoplasmic side of plasma membrane |
|
|
| terminal cisterna |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| protease binding |
|
|
| ion channel activity |
|
|
| monoatomic ion channel activity |
|
|
| ryanodine-sensitive calcium-release channel activity |
|
|
| ryanodine-sensitive calcium-release channel activity |
|
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- ryanodine receptor
- Functional Category
-
- E: Amino acid transport and metabolism
- K: Transcription
- T: Signal transduction mechanisms
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:3529 | congenital myopathy 1A | |
| DOID:8545 | malignant hyperthermia | |
| DOID:0080991 | congenital myopathy 1B |
Ortholog
| Species | Gene ID | Alliance of Genome Resources |
|---|---|---|
| 6261 | HGNC:10483 |
