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The protein encoded by this gene is a component of the vitamin A visual cycle of the retina which supplies the 11-cis retinal chromophore of the photoreceptors opsin visual pigments. It is a member of the carotenoid cleavage oxygenase superfamily. All members of this superfamily are non-heme iron oxygenases with a seven-bladed propeller fold and oxidatively cleave carotenoid carbon:carbon double bonds. However, the protein encoded by this gene has acquired a divergent function that involves the concerted O-alkyl ester cleavage of its all-trans retinyl ester substrate and all-trans to 11-cis double bond isomerization of the retinyl moiety. As such, it performs the essential enzymatic isomerization step in the synthesis of 11-cis retinal. Mutations in this gene are associated with early-onset severe blinding disorders such as Leber congenital. [provided by RefSeq, Oct 2017]
RPE65 (Retinoid Isomerohydrolase RPE65) is a Protein Coding gene. Diseases associated with RPE65 include Retinitis Pigmentosa 20 and Leber Congenital Amaurosis 2. Among its related pathways are Signaling by GPCR and Metabolism of fat-soluble vitamins. Gene Ontology (GO) annotations related to this gene include retinal isomerase activity and all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity. An important paralog of this gene is BCO2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001786 | phosphatidylserine binding | ISS | -- |
GO:0004744 | retinal isomerase activity | IBA,ISS | -- |
GO:0016702 | oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen | IEA | -- |
GO:0016787 | hydrolase activity | IEA | -- |
GO:0016853 | isomerase activity | IEA,IDA | 28874556 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | IDA | 29659842 |
GO:0005886 | plasma membrane | TAS | -- |
GO:0016020 | membrane | ISS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Drug metabolism - cytochrome P450 |
Retinol metabolism
.31
|
|
2 | the visual cycle I (vertebrates) | ||
3 | Phototransduction | ||
4 | Visual Cycle in Retinal Rods |
Visual Cycle in Retinal Rods
-
|
|
5 | Signaling by GPCR |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001523 | retinoid metabolic process | IDA,TAS | -- |
GO:0001895 | retina homeostasis | IMP | 15557452 |
GO:0003407 | neural retina development | IEA | -- |
GO:0006776 | vitamin A metabolic process | TAS | 9326941 |
GO:0007468 | regulation of rhodopsin gene expression | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||
SP2: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RPE65 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RPE65 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | RPE65 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RPE65 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Rpe65 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rpe65 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | RPE65 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RPE65 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RPE65 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rpe65 30 |
|
||
Str.5401 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | rpe65-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | rpe65b 31 |
|
OneToMany | |
rpe65a 31 |
|
OneToMany | |||
rpe65c 30 31 |
|
OneToMany | |||
zgc73213 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | RPE65 32 |
|
|
|
ninaB 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | bcmo-1 31 |
|
ManyToMany | |
F53C3.12 32 |
|
|
|||
Y46G5A.24 32 |
|
|
|||
bcmo-2 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.76 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
CSA.9604 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636202 | Uncertain Significance: Retinitis pigmentosa | 68,444,800(-) | T/C | MISSENSE_VARIANT | |
647699 | Uncertain Significance: Leber congenital amaurosis 2; Retinitis pigmentosa 20 | 68,431,477(-) | G/A | MISSENSE_VARIANT | |
658837 | Likely Pathogenic: Leber congenital amaurosis 2; Retinitis pigmentosa 20 | 68,438,946(-) | T/TCCA | INFRAME_INSERTION | |
660359 | Pathogenic/Likely Pathogenic: Retinal dystrophy; Leber congenital amaurosis 2; Retinitis pigmentosa 20 | 68,431,509(-) | C/T | NONSENSE | |
708052 | Likely Benign: Leber congenital amaurosis 2; Retinitis pigmentosa 20 | 68,448,643(-) | C/T | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
retinitis pigmentosa 20 |
|
|
leber congenital amaurosis 2 |
|
|
leber plus disease |
|
|
retinitis pigmentosa 87 with choroidal involvement |
|
|
retinal degeneration |
|