Protein Name: Ryanodine receptor 1
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UniprotKB/SwissProt ID: RYR1_HUMAN (P21817)
Gene Name: RYR1
Synonyms: RYDR
Organism: Homo sapiens (Human).
Function: 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. 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).
Other Modifications: View all modification sites in dbPTM
Protein Subcellular Localization: Sarcoplasmic reticulum membrane; Multi-pass membrane protein. Membrane; Multi-pass membrane protein (Probable). Note=The number of predicted transmembrane domains varies between orthologs, but both N-terminus and C-terminus seem to be cytoplasmic.
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Protein disease:
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| Disease database |
Database Entry |
Disease information | | KEGG | H00699 | Central core disease | | KEGG | H01310 | Multi-minicore disease (MmD); Multicore myopathy with external ophthalmoplegia | | OMIM | 117000 | CENTRAL CORE DISEASE OF MUSCLE ;;CCD;; CCO MINICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMEN | | OMIM | 145600 | MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 ;;MHS;; HYPERTHERMIA OF ANESTHESIA;; HYPE | | OMIM | 180901 | RYANODINE RECEPTOR 1; RYR1 ;;RYANODINE RECEPTOR, SKELETAL MUSCLE; RYDR;; SKELETAL MUSCLE RYA | | OMIM | 255310 | MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD ;;FIBER-TYPE DISPROPORTION MYOPATH | | OMIM | 255320 | MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA ;;MINICORE MYOPATHY;; MULTICORE MYOPATHY;; M | | HPRD | 01618 | Central core disease | | HPRD | 01618 | Central core disease, autosomal recessive | | HPRD | 01618 | Malignant hyperthermia, susceptibility to, 1 | | HPRD | 01618 | Minicore myopathy with external ophthalmoplegia |
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Network with metabolic pathway:
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Graphical Visualization of S-nitrosylation Sites:
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| Overview of Protein S-nitrosylation Sites with Functional and Structural Information |  |
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