Annotation Details for RPE65

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Basic Information Top

Gene Symbol:	RPE65 ( LCA2,RP20,mRPE65,rd12,sRPE65 )
Gene Full Name:	retinal pigment epithelium-specific protein 65kDa
Band:	1p31.3
Quick Links	Entrez ID:6121; OMIM: 180069; Uniprot ID:RPE65_HUMAN; ENSEMBL ID: ENSG00000116745; HGNC ID: 10294
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

AlzGene, PDGene and SZGene

Gene Ontology

Cellular Component:5 results
Molecular Function:8 results
Biological Process:14 results

GO ID	Evidence	Qualifier	GO_term	References
GO:0005783	IEA	-	endoplasmic reticulum	-
GO:0005886	TAS	-	plasma membrane	-
GO:0016020	ISS	-	membrane	-
GO:0031090	IEA	-	organelle membrane	-
GO:0044297	IEA	-	cell body	-

GO ID	Evidence	Qualifier	GO_term	References
GO:0001786	ISS	-	phosphatidylserine binding	-
GO:0004744	IEA	-	retinal isomerase activity	-
GO:0016702	IEA	-	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	-
GO:0031210	ISS	-	phosphatidylcholine binding	-
GO:0046872	IEA	-	metal ion binding	-
GO:0052884	TAS	-	all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity	-
GO:0052885	ISS	-	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity	-
GO:1901612	ISS	-	cardiolipin binding	-

GO ID	Evidence	Qualifier	GO_term	References
GO:0001523	TAS	-	retinoid metabolic process	-
GO:0001895	IMP	-	retina homeostasis	15557452
GO:0003407	IEA	-	neural retina development	-
GO:0006776	TAS	-	vitamin A metabolic process	9326941
GO:0007468	IEA	-	regulation of rhodopsin gene expression	-
GO:0007601	TAS	-	visual perception	9326941
GO:0007623	IEA	-	circadian rhythm	-
GO:0008286	IEA	-	insulin receptor signaling pathway	-
GO:0042572	IEA	-	retinol metabolic process	-
GO:0042574	IEA	-	retinal metabolic process	-
GO:0050908	IMP	-	detection of light stimulus involved in visual perception	15557452
GO:0055114	IEA	-	oxidation-reduction process	-
GO:0060042	IEA	-	retina morphogenesis in camera-type eye	-
GO:0071257	IEA	-	cellular response to electrical stimulus	-

Protein-Protein Interaction

BioGRID:2 results
BIND:0 results
HPRD:0 results

Gene Symbol	Interactant	Interaction ID	References	Description
SLC27A1	RPE65	112041	20356843	Affinity Capture-Western; Reconstituted Complex
SLC27A1	RPE65	132009	20356843	Affinity Capture-Western; Reconstituted Complex

AlzGene, PDGene and SZGene

Animal Model

Mouse:1 results
Fruit Fly:1 results

MGI ID: MGI:98001
Data Attributes: MGI curated and HomoloGene calculated