Gene Ontology annotation through association of InterPro records with GO terms
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Annotation inferences using phylogenetic trees
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Automatic Gene Ontology annotation based on Rhea mapping
Electronic Gene Ontology annotations created by ARBA machine learning models
Combined Automated Annotation using Multiple IEA Methods
A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.
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Identified the RPE65 R515W (c.1543C>T) mutation, known to cause Leber congenital amaurosis, in an autosomal recessive retinitis pigmentosa patient, supporting RPE65 loss-of-function as a cause of retinal dystrophy.
"The other was a mutation in RPE65 (c.1543C-->T, R515W), which is known to cause"
Identification of a novel palmitylation site essential for membrane association and isomerohydrolase activity of RPE65.
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Cys-112 palmitoylation is essential for membrane association and isomerohydrolase activity; the C112A mutant is dissociated from the membrane and loses enzymatic activity.
"intact enzymatic activity similar to that of wtRPE65, whereas C112A lost its"
Identification of key residues determining isomerohydrolase activity of human RPE65.
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RPE65 is the retinoid isomerohydrolase converting all-trans-retinyl ester to 11-cis-retinol, measured by in vitro isomerohydrolase activity assay with HPLC analysis of retinoid products.
"RPE65 is the retinoid isomerohydrolase that converts all-trans-retinyl ester to"
Architecture of the human interactome defines protein communities and disease networks.
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High-throughput AP-MS interactome study (BioPlex 2.0); source of the RPE65-CCT6B co-purification underlying the IntAct protein binding annotation.
"BioPlex 2.0 is the largest collection of human co-complex data assembled from a single pipeline to date"
RPE65 has an additional function as the lutein to meso-zeaxanthin isomerase in the vertebrate eye.
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RPE65 is the isomerase responsible for producing meso-zeaxanthin from lutein in the vertebrate eye; overexpression of chicken or human RPE65 in cell culture generates meso-zeaxanthin from lutein.
"culture leads to the production of meso-zeaxanthin from lutein."
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RPE65 catalyzes the isomerization of all-trans-retinyl esters to 11-cis-retinol (visual cycle) and additionally acts as the meso-zeaxanthin-producing isomerase.
"is also the isomerase enzyme responsible for the"
Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65.
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RPE65 is the essential trans-cis isomerase of the classical retinoid (visual) cycle; the dominant D477G allele acts via a toxic gain-of-function mechanism.
"RPE65 is the essential trans-cis isomerase of the classical retinoid (visual)"
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.
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High-throughput AP-MS interactome study (BioPlex 3.0); source of an RPE65-CCT6B co-purification underlying the IntAct protein binding annotation.
"through affinity-purification mass spectrometry, we have created two proteome-scale, cell-line-specific interaction networks"
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.
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RPE65 is an RPE-specific protein implicated in the RPE/photoreceptor vitamin-A cycle and in the synthesis of the visual pigment chromophore 11-cis-retinal; RPE65 mutations cause severe recessive retinal dystrophy.
"an important role in the RPE/photoreceptor vitamin-A cycle is"
RPE65 isomero-hydrolyses atREs to 11cROL
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Reactome models RPE65 hydrolysing all-trans-retinol esters to 11-cis-retinol at the RPE membrane, combining hydrolase and isomerase activity, dependent on Cys-112 palmitoylation.
"RPE65 hydrolyses atREs to 11-cis-retinol (11cROL), thus performing an isomerase activity as well as hydrolysis."
The canonical retinoid cycle in rods (twilight vision)
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RPE65 participates in the canonical retinoid (visual) cycle that regenerates the 11-cis-retinal chromophore in the retinal pigment epithelium and photoreceptors.
"The retinoid cycle (also referred to as the visual cycle) is the process"