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Repository for lectin-assisted multimodality data
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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
- Receptor
- Reference proteome
- Repeat
- S-nitrosylation
- Sarcoplasmic reticulum
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| P21817 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| response to hypoxia | ||
| outflow tract morphogenesis | ||
| calcium ion transport | ||
| muscle contraction | ||
| striated muscle contraction |
GO Hierarchy
biological process
cellular process [inference]
response to stimulus [inference]
localization [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| cytoplasm | ||
| smooth endoplasmic reticulum | ||
| plasma membrane | ||
| cell cortex | ||
| junctional sarcoplasmic reticulum membrane |
| GO Term | Evidence Code | PMID |
|---|---|---|
| ryanodine-sensitive calcium-release channel activity | ||
| ryanodine-sensitive calcium-release channel activity | ||
| ryanodine-sensitive calcium-release channel activity | ||
| ryanodine-sensitive calcium-release channel activity | ||
| ryanodine-sensitive calcium-release channel activity |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- 3',5' cyclic-nucleotide phosphodiesterase
- Functional Category
-
- E: Amino acid transport and metabolism
- J: Translation, ribosomal structure and biogenesis
- T: Signal transduction mechanisms
| InterPro |
|---|
| B30.2/SPRY domain superfamily |
| B30.2/SPRY domain |
| Concanavalin A-like lectin/glucanase domain superfamily |
| SPRY domain |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0080990 | King Denborough syndrome | |
| DOID:0080991 | congenital myopathy 1B | |
| DOID:13100 | intracranial vasospasm | |
| DOID:14557 | primary pulmonary hypertension | |
| DOID:3529 | congenital myopathy 1A | |
| DOID:6000 | congestive heart failure | |
| DOID:8545 | malignant hyperthermia |
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 6261 | Xenbase:XB-GENE-1013509 | ||
| 6262 | FB:FBgn0011286 | ||
| 6263 | FB:FBgn0011286 | ||
| 20190 | Xenbase:XB-GENE-1013509 | MOUSE53759 | |
| 20191 | FB:FBgn0011286 | ||
| 114207 | RATNO17983 | ||
| 570245 | DANRE14625 | ||
| 606491 | CANLF01111 | ||
| 689560 | FB:FBgn0011286 | ||
| 693612 | MACMU18064 |
