RYR1 - Ryanodine receptor 1 - human protein (Function)
 
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Protein
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References

 
RYR1 »  Ryanodine receptor 1
 
Gene name:  RYR1
Entry whose protein(s) existence is based on evidence at protein level
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1 227 3
GENE REF ISO

Function

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Overview 
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).  
1
  • CuratedUniProtKB
According to TCDB this is a transporter from family:
the ryanodine-inositol 1,4,5-triphosphate receptor ca(2+) channel (rir-cac) family  1.A.3.1.2  
GO molecular function 
Calcium channel activitydefinition[GO:0005262]  
  • ISSOrtholog Curator
Calcium ion bindingdefinition[GO:0005509] silver  
  • IEAInterPro 2 GO
Calcium-release channel activitydefinition[GO:0015278]  
1
  • TASPINC
Calmodulin bindingdefinition[GO:0005516]  
  • ISSOrtholog Curator
Protease bindingdefinition[GO:0002020] silver  
  • IEAOrtholog Compara
Protein bindingdefinition[GO:0005515]  
1
  • IPIIntAct
Ryanodine-sensitive calcium-release channel activitydefinition[GO:0005219]  
1
  • TASBHF-UCL
  • ISSOrtholog Curator
Voltage-gated calcium channel activitydefinition[GO:0005245]  
  • ISSOrtholog Curator
GO biological process 
Calcium ion transmembrane transportdefinition[GO:0070588]  
  • IEAUniProtKB KW
Calcium ion transportdefinition[GO:0006816]  
  • ISSOrtholog Curator
Cellular response to caffeinedefinition[GO:0071313]  
  • ISSOrtholog Curator
Cytosolic calcium ion homeostasisdefinition[GO:0051480]  
  • ISSOrtholog Curator
Muscle contractiondefinition[GO:0006936]  
  • ISSOrtholog Curator
Ossification involved in bone maturationdefinition[GO:0043931]  
  • ISSOrtholog Curator
Outflow tract morphogenesisdefinition[GO:0003151]  
  • ISSOrtholog Curator
Release of sequestered calcium ion into cytosoldefinition[GO:0051209]  
  • ISSOrtholog Curator
Release of sequestered calcium ion into cytosol by sarcoplasmic reticulumdefinition[GO:0014808]  
  • ISSOrtholog Curator
Response to caffeinedefinition[GO:0031000]  
  • ISSOrtholog Curator
Response to hypoxiadefinition[GO:0001666]  
1
  • IDABHF-UCL
Skeletal muscle fiber developmentdefinition[GO:0048741]  
  • ISSOrtholog Curator
Skin developmentdefinition[GO:0043588]  
  • ISSOrtholog Curator
Pathways 
According to KEGG, this protein belongs to the following pathways:
Calcium signaling pathway  hsa04020+6261  
Long-term depression  hsa04730+6261  
According to Reactome, this protein belongs to the following pathway:
Stimuli-sensing channels  REACT_160189  
 

Keywords

Biological process 
Calcium transport  definition   [KW-0109]
Ion transport  definition   [KW-0406]
Transport  definition   [KW-0813]
Molecular function 
Calcium channel  definition   [KW-0107]
Developmental protein  definition   [KW-0217]
Ion channel  definition   [KW-0407]
Ligand-gated ion channel  definition   [KW-1071]
Receptor  definition   [KW-0675]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Other
GeneWiki: RYR1
GenomeRNAi: 6261
PRO: PR:P21817
Chemistry
GuidetoPHARMACOLOGY: 747