| Gene |
RYR1
|
| Protein Name |
RYR1_HUMAN |
| Organism |
Homo sapiens (Human) |
| Alternative name(s) |
Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal muscle calcium release channel) (Skeletal muscle ryanodine receptor) (Skeletal muscle-type ryanodine receptor) (Type 1 ryanodine receptor) |
| Protein Family |
Ryanodine receptor (TC 1.A.3.1) family |
| NCBI Gene ID |
6261
|
| UniProt ID |
P21817
|
| Enzyme Class |
- |
| Molecular Weight |
565176 |
| Protein Length |
5038 |
| Protein Domain |
InterPro |
Pfam
|
| 3D Structure |
PDBe |
PDBj |
RCSB PDB |
DrugPort
ModBase |
SwissModel
|
| Gene Expression |
Gene Expression Atlas
|
| Function and Disease |
OMIM |
| Protein-protein Interaction Database |
STRING |
IntAct |
MINT
|
| Kinase Database |
Phospho.ELM
|
PhosphoSite
| NetworKIN
|
| Catalytic Activity (UniProt annotation) |
- |
| Localization |
Sarcoplasmic reticulum membrane |
| Function (UniProt annotation) |
Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules (PubMed:11741831, PubMed:16163667). Repeated very high-level exercise increases the open probability of the channel and leads to Ca(2+) leaking into the cytoplasm (PubMed:18268335). Can also mediate the release of Ca(2+) from intracellular stores in neurons, and may thereby promote prolonged Ca(2+) signaling in the brain. Required for normal embryonic development of muscle fibers and skeletal muscle. Required for normal heart morphogenesis, skin development and ossification during embryogenesis (By similarity). |
| Gene Ontology |
GO:0001666; GO:0002020; GO:0003151; GO:0005219; GO:0005245; GO:0005262; GO:0005509; GO:0005516; GO:0005524; GO:0005737; GO:0005790; GO:0005886; GO:0005887; GO:0005938; GO:0006816; GO:0006936; GO:0014701; GO:0014802; GO:0014808; GO:0015278; GO:0016529; GO:0030018; GO:0030314; GO:0030315; GO:0030659; GO:0031000; GO:0031301; GO:0031674; GO:0033017; GO:0034220; GO:0034704; GO:0042383; GO:0043588; GO:0043931; GO:0048741; GO:0048763; GO:0051209; GO:0051289; GO:0051480; GO:0070062; GO:0071277; GO:0071313; GO:1903779; GO:1990425 |
