Tclin RYR1 Ryanodine receptor 1

Protein Summary

Description

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). This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Uniprot Accession IDs

• P21817
• Q16314
• Q16368
• Q9NPK1
• Q9P1U4
• RYR-1

Gene Name

• RYR1

Ensembl ID

• ENST00000355481
• ENSP00000347667
• ENSG00000196218
• ENST00000359596
• ENSP00000352608

Symbol

• RYDR
• CCO
• MHS
• RYR
• MHS1
• RYDR
• SKRR
• RYR-1
• PPP1R137

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
protein domain	1
molecular function	0.96
cellular component	0.91
gene perturbation	0.91
phenotype	0.82

Protein Classes

PANTHER Classes

Protein / Transporter / Ion Channel / Ligand-gated Ion Channel / Ryanodine Receptor 1

Protein / Receptor / Ligand-gated Ion Channel / Ryanodine Receptor 1

DTO Classes

Protein / Ion Channel / Ryanodine-inositol 1,4,5-triphosphate Receptor Calcium Channel (Rir-cac) Family / Ryr1 Subfamily / Ryanodine Receptor 1

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1494.39   (req: < 5)

Gene RIFs: 241   (req: <= 3)

Antibodies: 152   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1494.39   (req: >= 5)

Gene RIFs: 241   (req: > 3)

Antibodies: 152   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 25

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 6

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 1