|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:component
|
gptkb:cytoplasm
|
|
gptkbp:discoveredBy
|
gptkb:T._Michael_Redmond
|
|
gptkbp:discoveredIn
|
1993
|
|
gptkbp:encodedBy
|
gptkb:RPE65_gene
|
|
gptkbp:enzymeCommissionNumber
|
EC 5.2.1.12
|
|
gptkbp:expressedIn
|
gptkb:retinal_pigment_epithelium
|
|
gptkbp:fullName
|
Retinal pigment epithelium-specific 65 kDa protein
|
|
gptkbp:function
|
visual cycle
isomerohydrolase activity
retinol isomerase activity
|
|
gptkbp:gene
|
gptkb:RPE65
|
|
gptkbp:geneTherapyApprovedFor
|
gptkb:Leber_congenital_amaurosis
|
|
gptkbp:geneTherapyProduct
|
gptkb:voretigene_neparvovec
|
|
gptkbp:GOProcess
|
visual perception
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Rpe65
|
|
gptkbp:locatedOnChromosome
|
1p31
|
|
gptkbp:molecularWeight
|
65 kDa
|
|
gptkbp:mutationAssociatedWith
|
gptkb:Leber_congenital_amaurosis
retinitis pigmentosa
|
|
gptkbp:OMIM
|
180069
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
gptkb:Mus_musculus
gptkb:Rattus_norvegicus
|
|
gptkbp:pathway
|
visual perception
retinoid cycle
|
|
gptkbp:proteinFamily
|
carotenoid oxygenase family
|
|
gptkbp:subcellularLocation
|
gptkb:cytoplasm
membrane-associated
|
|
gptkbp:target
|
gene therapy
|
|
gptkbp:UniProtID
|
Q16518
|
|
gptkbp:bfsParent
|
gptkb:RPE65
gptkb:RPE65_gene
|
|
gptkbp:bfsLayer
|
7
|