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MGP002647

UniProt Annotations

Entry Information

Gene Name	retinal pigment epithelium-specific protein 65kDa
Protein Entry	RPE65_HUMAN
UniProt ID	Q16518
Species	Human

Comments

Comment type	Description
Catalytic Activity	An all-trans-retinyl ester + H(2)O = 11-cis- retinol + a fatty acid.
Cofactor	Name=Fe(2+); Xref=ChEBI:CHEBI:29033; Evidence={ECO:0000250}; Note=Binds 1 Fe(2+) ion per subunit. {ECO:0000250};
Disease	Leber congenital amaurosis 2 (LCA2) [MIM:204100]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269\|PubMed:10090910, ECO:0000269\|PubMed:10766140, ECO:0000269\|PubMed:11462243, ECO:0000269\|PubMed:14611946, ECO:0000269\|PubMed:14962443, ECO:0000269\|PubMed:15024725, ECO:0000269\|PubMed:16205573, ECO:0000269\|PubMed:17297704, ECO:0000269\|PubMed:17724218, ECO:0000269\|PubMed:18682808, ECO:0000269\|PubMed:9326941, ECO:0000269\|PubMed:9801879}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Note=Defects in RPE65 are a cause of autosomal dominant retinitis pigmentosa with choroidal involvement (PubMed:21654732). Affected individuals show reduction of central vision, constriction of visual fields, night blindness and chorioretinal atrophy. {ECO:0000269\|PubMed:21654732}.
Disease	Retinitis pigmentosa 20 (RP20) [MIM:613794]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269\|PubMed:11095629, ECO:0000269\|PubMed:12960219, ECO:0000269\|PubMed:15557452, ECO:0000269\|PubMed:22334370, ECO:0000269\|PubMed:23878505, ECO:0000269\|PubMed:9501220}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Plays important roles in the production of 11-cis retinal and in visual pigment regeneration. The soluble form binds vitamin A (all-trans-retinol), making it available for LRAT processing to all-trans-retinyl ester. The membrane form, palmitoylated by LRAT, binds all-trans-retinyl esters, making them available for IMH (isomerohydrolase) processing to all-cis- retinol. The soluble form is regenerated by transferring its palmitoyl groups onto 11-cis-retinol, a reaction catalyzed by LRAT. The enzymatic activity is linearly dependent of the expression levels and membrane association. {ECO:0000269\|PubMed:16116091, ECO:0000269\|PubMed:21654732}.
Ptm	Palmitoylation by LRAT regulates ligand binding specificity; the palmitoylated form (membrane form) specifically binds all- trans-retinyl-palmitate, while the soluble unpalmitoylated form binds all-trans-retinol (vitamin A). {ECO:0000250}.
Similarity	Belongs to the carotenoid oxygenase family. {ECO:0000305}.
Subcellular Location	Cytoplasm {ECO:0000250}. Cell membrane {ECO:0000250}; Lipid-anchor {ECO:0000250}. Microsome membrane {ECO:0000250}. Note=Attached to the membrane by a lipid anchor when palmitoylated (membrane form), soluble when unpalmitoylated (By similarity). Undergoes light-dependent intracellular transport to become more concentrated in the central region of the retina pigment epithelium cells. {ECO:0000250, ECO:0000269\|PubMed:21493626}.
Subunit	Interacts with MYO7A; this mediates light-dependent intracellular transport of RPE65. {ECO:0000269\|PubMed:21493626}.
Tissue Specificity	Retinal pigment epithelium specific. {ECO:0000269\|PubMed:21493626}.
Web Resource	Name=Mutations of the RPE65 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/rpe65mut.htm";