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MIRAGE
ryanodine receptor 1
Summary
- Gene Symbol
-
- RYR1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- ATP-binding
- Alternative splicing
- Calcium channel
- Calmodulin-binding
- Developmental protein
- Direct protein sequencing
- Disease variant
- Ligand-gated ion channel
- Metal-binding
- Phosphoprotein
- Proteomics identification
- Receptor
- Reference proteome
- Repeat
- S-nitrosylation
- Sarcoplasmic reticulum
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| M0R014 |
|
| A0A8I5KSR1 |
|
| P21817 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| response to hypoxia |
|
|
| outflow tract morphogenesis |
|
|
| outflow tract morphogenesis |
|
|
| monoatomic ion transport |
|
|
| ion transport |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| plasma membrane |
|
|
| plasma membrane |
|
|
| cell cortex |
|
|
| junctional sarcoplasmic reticulum 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
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:3529 | congenital myopathy 1A | |
| DOID:13100 | intracranial vasospasm | |
| DOID:0080991 | congenital myopathy 1B | |
| DOID:14557 | primary pulmonary hypertension | |
| DOID:6000 | congestive heart failure | |
| DOID:0080990 | King Denborough syndrome | |
| DOID:8545 | malignant hyperthermia |
