|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeName
|
gptkb:RYR1
gptkb:RYR
gptkb:skeletal_muscle_ryanodine_receptor
|
|
gptkbp:associatedWith
|
gptkb:central_core_disease
malignant hyperthermia
|
|
gptkbp:biologicalProcess
|
protein binding
calcium ion channel activity
|
|
gptkbp:cellularComponent
|
integral component of membrane
sarcoplasmic reticulum membrane
|
|
gptkbp:discoveredBy
|
1989
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
|
|
gptkbp:foundIn
|
gptkb:Mus_musculus
gptkb:Homo_sapiens
|
|
gptkbp:function
|
calcium release channel
|
|
gptkbp:gene
|
gptkb:RYR1
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ryanodine receptor 1
|
|
gptkbp:interactsWith
|
gptkb:calmodulin
gptkb:FKBP12
gptkb:dihydropyridine_receptor
|
|
gptkbp:length
|
5038
|
|
gptkbp:locatedIn
|
sarcoplasmic reticulum
|
|
gptkbp:locatedOnChromosome
|
19q13.2
|
|
gptkbp:modulatedBy
|
gptkb:ATP
caffeine
ryanodine
Mg2+
Ca2+
|
|
gptkbp:mutationAssociatedWith
|
muscle weakness
susceptibility to anesthesia-induced malignant hyperthermia
|
|
gptkbp:OMIM
|
180901
|
|
gptkbp:orthologInMouse
|
gptkb:Ryr1
|
|
gptkbp:PDB
|
gptkb:5TAL
gptkb:5T15
5TB0
|
|
gptkbp:reviewedBy
|
gptkb:GeneReviews
gptkb:NCBI_Gene
gptkb:HGNC
gptkb:OMIM
gptkb:UniProt
gptkb:Ensembl
gptkb:Reactome
gptkb:KEGG
|
|
gptkbp:subunit
|
homotetramer
|
|
gptkbp:UniProtID
|
P21817
|
|
gptkbp:bfsParent
|
gptkb:RYR1
|
|
gptkbp:bfsLayer
|
6
|