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Description for Protein RYR1

ryanodine receptor 1 (skeletal)
13 total interacting proteins; 5 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
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] (PubMed Links)
Domains and Motifs:
  • SPRY: Domain in SPla and the RYanodine Receptor.
  • MIR: Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
  • CC: Coiled Coil
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K04961
    KEGG - Pathway(s):
    hsa04020; hsa04730
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Skeletal muscle type ryanodine receptor; Skeletal muscle calcium release channel; RYDR; Sarcoplasmic reticulum calcium release channel; Skeletal muscle ryanodine receptor isoform 1; Skeletal muscle ryanodine receptor isoform 2
    Approved Symbol:
    RYR1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 11
    Human (de-) phosphorylation sites: 11; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • Caffeine(db);
  • Dantrolene(db);
  • Suramin(db)

    Associated Genetic Diseases:

  • Central core disease(Pd);
  • Central core disease, autosomal recessive(Pd);
  • Malignant hyperthermia, susceptibility to, 1(Pd);
  • Minicore myopathy with external ophthalmoplegia(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 6
  • Isoform 1 : 6
    • Additional Identifiers:

    HPRD: 01618 Entrez Gene ID: 6261 OMIM ID: 180901 Swissprot Accession: P21817;