|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:RYR
MHS1
RYR1_HUMAN
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:central_core_disease
gptkb:multiminicore_disease
muscular dystrophy
malignant hyperthermia susceptibility
|
|
gptkbp:biologicalProcess
|
mediates calcium release from sarcoplasmic reticulum
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for malignant hyperthermia
|
|
gptkbp:discoveredBy
|
MacLennan et al.
|
|
gptkbp:encodes
|
gptkb:ryanodine_receptor_1
|
|
gptkbp:Entrez_Gene_ID
|
6261
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
|
|
gptkbp:firstDescribed
|
1989
|
|
gptkbp:fullName
|
gptkb:ryanodine_receptor_1
|
|
gptkbp:function
|
calcium release channel in skeletal muscle
|
|
gptkbp:HGNC_ID
|
10483
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
RYR1 gene
|
|
gptkbp:inheritance
|
autosomal dominant
autosomal recessive
|
|
gptkbp:interactsWith
|
gptkb:calsequestrin
gptkb:calmodulin
gptkb:FKBP12
gptkb:dihydropyridine_receptor
gptkb:junctin
gptkb:triadin
|
|
gptkbp:length
|
5038 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_19
19q13.2
|
|
gptkbp:mutationAssociatedWith
|
nonsense
deletion
missense
duplication
disrupts excitation-contraction coupling
|
|
gptkbp:OMIM
|
180901
|
|
gptkbp:orthologInMouse
|
gptkb:Ryr1
|
|
gptkbp:orthologInZebrafish
|
ryr1a
ryr1b
|
|
gptkbp:pathway
|
muscle contraction
excitation-contraction coupling
calcium signaling pathway
|
|
gptkbp:proteinFamily
|
gptkb:ryanodine_receptor_family
gptkb:EF-hand_domain
transmembrane domain
cytoplasmic domain
RYR domain
|
|
gptkbp:UniProtID
|
P21817
|
|
gptkbp:bfsParent
|
gptkb:ryanodine_receptor_family
|
|
gptkbp:bfsLayer
|
7
|