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QuickView for RyR1 (gene)


Gene Symbol:
RYR1 Homo sapiens Homo sapiens
Full name:
ryanodine receptor 1
Synonyms:
CCO, MHS, MHS1, PPP1R137, RYDR, RYR, RYR-1, SKRR, ryanodine receptor 1, central core disease of muscle, protein phosphatase 1, regulatory subunit 137, ryanodine receptor 1 (skeletal), sarcoplasmic reticulum calcium release channel, skeletal muscle calcium release channel, skeletal muscle ryanodine receptor, type 1-like ryanodine receptor
Genomic Location:
Chr 19: 43616180-43770044
Description:
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 my...
Orthologs:
Mus musculus Bos taurus Danio rerio
External Links:
Entrez Gene
Transcription Factor
Binding Sites:
miRNA binding sites
(Source: TargetScan):
Cytogenetic Map:
chr 19
19q13.2





GO Molecular Function

calcium-induced calcium release activity | ligand-gated calcium channel activity | voltage-gated ion channel activity | cation binding | passive transmembrane transporter activity | enzyme binding | ribonucleotide binding | transmembrane transporter activity | ligand-gated ion channel activity | nucleotide binding | ion gated channel activity | ryanodine-sensitive calcium-release channel activity | carbohydrate derivative binding | voltage-gated calcium channel activity | ATP binding | anion binding | adenyl nucleotide binding | cation transmembrane transporter activity | purine nucleotide binding | transporter activity | calcium ion transmembrane transporter activity | ion transmembrane transporter activity | ion binding | organic cyclic compound binding | calcium-release channel activity | purine ribonucleoside triphosphate binding | protein binding | metal ion transmembrane transporter activity | voltage-gated cation channel activity | cation channel activity | calcium ion binding | inorganic cation transmembrane transporter activity | purine ribonucleotide binding | intracellular ligand-gated ion channel activity | voltage-gated channel activity | adenyl ribonucleotide binding | channel activity | drug binding | protease binding | calcium channel activity | calmodulin binding | metal ion binding | ion channel activity | heterocyclic compound binding | substrate-specific channel activity | small molecule binding

GO Biological Process

protein homooligomerization | muscle tissue development | intracellular signal transduction | calcium ion transmembrane import into cytosol | cytosolic calcium ion transport | regulation of localization | calcium-induced calcium release activity | ligand-gated calcium channel activity | establishment of localization | negative regulation of cellular process | response to metal ion | bone development | cell differentiation | striated muscle cell development | response to drug | cellular response to caffeine | cellular chemical homeostasis | voltage-gated ion channel activity | cellular process | localization | cellular homeostasis | heart morphogenesis | passive transmembrane transporter activity | metal ion transport | myotube cell development | response to hypoxia | response to inorganic substance | establishment of localization in cell | tissue development | muscle structure development | muscle cell differentiation | skeletal muscle organ development | regulation of cellular process | regulation of cytosolic calcium ion concentration | transmembrane transporter activity | ligand-gated ion channel activity | cellular response to organonitrogen compound | cellular component organization | calcium ion homeostasis | cellular response to metal ion | calcium ion transport into cytosol | muscle contraction | response to stimulus | ion gated channel activity | muscle cell development | release of sequestered calcium ion into cytosol by sarcoplasmic reticulum | cellular response to xenobiotic stimulus | ryanodine-sensitive calcium-release channel activity | response to stress | skeletal muscle tissue development | regulation of blood circulation | cellular response to inorganic substance | cellular localization | divalent metal ion transport | cellular response to organic cyclic compound | cellular component assembly | muscle fiber development | metal ion homeostasis | voltage-gated calcium channel activity | response to nitrogen compound | system development | response to oxygen levels | multicellular organism development | calcium ion transmembrane transport | response to purine-containing compound | protein complex oligomerization | ion transmembrane transport | outflow tract morphogenesis | cation transmembrane transporter activity | cellular ion homeostasis | animal organ morphogenesis | positive regulation of cytosolic calcium ion concentration | protein homotetramerization | cellular response to alkaloid | calcium ion transmembrane transporter activity | ion transmembrane transporter activity | second-messenger-mediated signaling | negative regulation of sequestering of calcium ion | protein tetramerization | skin development | response to xenobiotic stimulus | regulation of heart contraction | cation homeostasis | cellular response to drug | striated muscle tissue development | cellular cation homeostasis | cell communication | heart development | cellular calcium ion homeostasis | homeostatic process | calcium-release channel activity | striated muscle cell differentiation | ossification involved in bone maturation | release of sequestered calcium ion into cytosol | calcium-mediated signaling | cation transmembrane transport | protein-containing complex assembly | cellular response to calcium ion | response to organic substance | cellular response to purine-containing compound | metal ion transmembrane transporter activity | anatomical structure development | voltage-gated cation channel activity | developmental maturation | chemical homeostasis | calcium ion transport | response to caffeine | regulation of sequestering of calcium ion | animal organ development | ion homeostasis | inorganic cation transmembrane transport | response to alkaloid | cation channel activity | bone maturation | transmembrane transport | signaling | inorganic cation transmembrane transporter activity | myotube differentiation | response to organic cyclic compound | sarcoplasmic reticulum calcium ion transport | cell development | intracellular ligand-gated ion channel activity | voltage-gated channel activity | anatomical structure morphogenesis | release of sequestered calcium ion into cytosol by endoplasmic reticulum | cation transport | channel activity | developmental process | calcium channel activity | regulation of cardiac conduction | response to organonitrogen compound | cellular metal ion homeostasis | response to calcium ion | ion channel activity | ossification | ion transport | skeletal system development | cellular response to organic substance | circulatory system development | divalent inorganic cation homeostasis | substrate-specific channel activity | muscle organ development | muscle system process | signal transduction | regulation of signaling | skeletal muscle fiber development | multicellular organismal process

GO Cellular Component

supramolecular fiber | integral component of organelle membrane | integral component of membrane | sarcoplasmic reticulum | intracellular membrane-bounded organelle | sarcolemma | organelle membrane | sarcomere | cytoplasmic vesicle | voltage-gated calcium channel complex | cell | smooth endoplasmic reticulum | plasma membrane protein complex | intrinsic component of membrane | myofibril | cytoplasm | intracellular organelle | endoplasmic reticulum | junctional sarcoplasmic reticulum membrane | contractile fiber | nuclear outer membrane-endoplasmic reticulum membrane network | protein-containing complex | endomembrane system | endoplasmic reticulum membrane | plasma membrane | vesicle | junctional membrane complex | ryanodine receptor complex | extracellular exosome | cytoplasmic region | integral component of plasma membrane | T-tubule | calcium channel complex | extracellular region | cell cortex | membrane-bounded organelle | extracellular vesicle | sarcoplasmic reticulum membrane | organelle | I band | vesicle membrane | sarcoplasm | extracellular space | cell periphery | transmembrane transporter complex | cation channel complex | terminal cisterna | ion channel complex | Z disc | intracellular vesicle | intracellular | membrane | supramolecular complex | cytoplasmic vesicle membrane | intrinsic component of plasma membrane