Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:RYR1
gptkb:ryanodine_receptor_1 gptkb:skeletal_muscle_ryanodine_receptor |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:central_core_disease
malignant hyperthermia |
| gptkbp:compatibleWith |
cardiac muscle
smooth muscle |
| gptkbp:encodes |
gptkb:ryanodine_receptor_1
|
| gptkbp:Entrez_Gene_ID |
6261
|
| gptkbp:expressedIn |
gptkb:skeletal_muscle
|
| gptkbp:function |
calcium release channel in skeletal muscle
|
| https://www.w3.org/2000/01/rdf-schema#label |
Ryr1
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_19_(human)
|
| gptkbp:mutationAssociatedWith |
muscle weakness
susceptibility to anesthesia-induced complications |
| gptkbp:OMIM |
180901
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Ryr1
|
| gptkbp:product |
gptkb:RYR1_protein
|
| gptkbp:UniProtID |
P21817
|
| gptkbp:bfsParent |
gptkb:RYR1
|
| gptkbp:bfsLayer |
6
|