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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 |
|---|---|---|
| release of sequestered calcium ion into cytosol | ||
| ossification involved in bone maturation | ||
| response to caffeine | ||
| protein homotetramerization | ||
| cellular response to ATP |
GO Hierarchy
biological process
cellular process [inference]
response to stimulus [inference]
localization [inference]
biological regulation [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| I band | ||
| smooth endoplasmic reticulum | ||
| extrinsic component of cytoplasmic side of plasma membrane | ||
| protein-containing complex | ||
| cytoplasm |
| GO Term | Evidence Code | PMID |
|---|---|---|
| ATP binding | ||
| voltage-gated calcium channel activity | ||
| calcium-induced calcium release activity | ||
| calcium ion binding | ||
| protein binding |
GO Hierarchy
OrthoDB (Group)
- Group level
- Rodentia
- Group Name
- Ryanodine receptor
- Functional Category
-
- I: Lipid transport and metabolism
- K: Transcription
- P: Inorganic ion transport and metabolism
- T: Signal transduction mechanisms
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0080990 | King Denborough syndrome | |
| DOID:0080991 | congenital myopathy 1B | |
| DOID:10591 | pre-eclampsia | |
| DOID:11714 | gestational diabetes | |
| DOID:13100 | intracranial vasospasm | |
| DOID:14557 | primary pulmonary hypertension | |
| DOID:1574 | alcohol use disorder | |
| DOID:2256 | osteochondrodysplasia | |
| DOID:3529 | congenital myopathy 1A | |
| DOID:5844 | myocardial infarction |
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 6261 | HGNC:10483 | HUMAN43234 | ||
| 49090 | FB:FBgn0011286 | |||
| 114207 | 10116_1:000bf7 | RATNO17983 | ||
| 179080 | WB:WBGene00006801 | |||
| 570245 | ZFIN:ZDB-GENE-070705-417 | DANRE14625 | ||
| 606491 | CANLF01111 | |||
| 686059 | RGD:1586637 | |||
| 693612 | MACMU18064 | |||
| 798565 | ZFIN:ZDB-GENE-020108-2 | DANRE00282 | ||
| 100034090 | HORSE01256 |
