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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|
| striated muscle contraction | ||
| outflow tract morphogenesis | ||
| regulation of cytosolic calcium ion concentration | ||
| cellular response to calcium ion | ||
| response to hypoxia |
GO Hierarchy
biological process
cellular process [inference]
response to stimulus [inference]
localization [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| sarcoplasmic reticulum membrane | ||
| cell cortex | ||
| sarcolemma | ||
| terminal cisterna | ||
| plasma membrane |
| GO Term | Evidence Code | PMID |
|---|---|---|
| calmodulin binding | ||
| ryanodine-sensitive calcium-release channel activity | ||
| calcium channel activity | ||
| voltage-gated calcium channel activity | ||
| calcium-induced calcium release activity |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- E3 ubiquitin-protein ligase
- 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: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 |
|---|---|---|---|---|
| 20190 | MGI:99659 | MOUSE53759 | ||
| 49090 | FB:FBgn0011286 | |||
| 114207 | 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 |
