RYR1 — Ryanodine receptor 1
RYR1 belongs to a gene co-expression module in 1 of 28 SCUBA cell types. Each module groups genes that rise and fall together in that cell type; the genes it shares a module with are its closest co-expression partners there.
RYR1's module in each cell type
| Cell type | Module | Shares the module with | |
|---|---|---|---|
| CD4⁺ T cells | MHC-II antigen presentation Immune regulation | CD74, CDCA7, CHN1, FABP5, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQB1 +3 more | View in SCUBA |
About the gene
| Synonyms | CCO, MHS, MHS1, PPP1R137, RYR |
|---|---|
| Chromosome | 19: 38433691-38595273 |
| Predicted location | Membrane |
| Essential gene | No |
| Protein class | Disease related genes, FDA approved drug targets, Human disease related genes, Plasma proteins, Predicted membrane proteins, Transporters |
| Molecular function | Calcium channel, Calmodulin-binding, Developmental protein, Ion channel, Ligand-gated ion channel, Receptor |
| Biological process | Calcium transport, Ion transport, Transport |
Function
Cytosolic calcium-activated calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytosol and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules. Repeated very high- level exercise increases the open probability of the channel and leads to Ca(2+) leaking into the cytoplasm. 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).
Human Protein Atlas · Open Targets · UniProt
Gene annotation from the Human Protein Atlas and UniProt; see sources & licences.