Rpe65
entrez
19892
canonical
uniprot
Q91ZQ5
canonical
ensembl
ENSMUSG00000028174
resolver
ensp
ENSMUSP00000029824
resolver
ensp
ENSMUSP00000143654
resolver
enst
ENSMUST00000029824
resolver
enst
ENSMUST00000196999
resolver
genesymbol
Rpe65
resolver
uniprot
A1L3D1
resolver
uniprot
E9QNS6
resolver
uniprot
H9KUX9
resolver
uniprot
Q8VHP2
resolver
uniprot_entry
RPE65_MOUSE
resolver
uniprot_sec
A1L3D1
resolver
uniprot_sec
E9QNS6
resolver
uniprot_sec
H9KUX9
resolver
uniprot_sec
Q8VHP2
resolver
amino_acid_sequence
MSIQIEHPAGGYKKLFETVEELSSPLTAHVTGRIPLWLTGSLLRCGPGLFEVGSEPFYHLFDGQALLHKFDFKEGHVTYHRRFIRTDAYVRAMTEKRIVITEFGTCAFPDPCKNIFSRFFSYFKGVEVTDNALVNIYPVGEDYYACTETNFITKINPETLETIKQVDLCNYISVNGATAHPHIESDGTVYNIGNCFGKNFTVAYNIIKIPPLKADKEDPINKSEVVVQFPCSDRFKPSYVHSFGLTPNYIVFVETPVKINLFKFLSSWSLWGANYMDCFESNESMGVWLHVADKKRRKYFNNKYRTSPFNLFHHINTYEDNGFLIVDLCCWKGFEFVYNYLYLANLRENWEEVKRNAMKAPQPEVRRYVLPLTIDKVDTGRNLVTLPHTTATATLRSDETIWLEPEVLFSGPRQAFEFPQINYQKFGGKPYTYAYGLGLNHFVPDKLCKMNVKTKEIWMWQEPDSYPSEPIFVSQPDALEEDDGVVLSVVVSPGAGQKPAYLLVLNAKDLSEIARAEVETNIPVTFHGLFKRS
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in Rpe65 are the cause of light damage susceptibility (LDS) of the retina. {ECO:0000305|PubMed:11150319}.
uniprot
proteins
ec_number
3.1.1.64
uniprot
proteins
ec_number
5.3.3.22
uniprot
proteins
function
FUNCTION: Critical isomerohydrolase in the retinoid cycle involved in regeneration of 11-cis-retinal, the chromophore of rod and cone opsins. Catalyzes the cleavage and isomerization of all-trans-retinyl fatty acid esters to 11-cis-retinol which is further oxidized by 11-cis retinol dehydrogenase to 11-cis-retinal for use as visual chromophore (PubMed:15765048, PubMed:23407971, PubMed:28500718, PubMed:9843205). Essential for the production of 11-cis retinal for both rod and cone photoreceptors (PubMed:17251447). Also capable of catalyzing the isomerization of lutein to meso-zeaxanthin an eye-specific carotenoid. 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 (By similarity). {ECO:0000250|UniProtKB:Q16518, ECO:0000250|UniProtKB:Q28175, ECO:0000269|PubMed:15765048, ECO:0000269|PubMed:17251447, ECO:0000269|PubMed:23407971, ECO:0000269|PubMed:28500718, ECO:0000269|PubMed:9843205}.
uniprot
proteins
mass_dalton
61085
uniprot
proteins
mutagenesis
MUTAGEN 477; /note="D->G: Knockin mice exhibit mild age-dependent degeneration of retinal structure and function; Knockin mice exhibit adequate isomerization activity with an accumulation of retinyl esters and a delay in rhodopsin regeneration kinetics and diminished electroretinography responses. Retinae of knockin mice are more sensitive to light exposition and exhibit signs of degenerative features when sujected to light stress. May cause abnormal splicing mRNAs thereby decreasing protein levels."; /evidence="ECO:0000269|PubMed:29659842, ECO:0000269|PubMed:30628748
uniprot
proteins
post_translational_modification
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|UniProtKB:Q28175}.
uniprot
proteins
protein_family
Carotenoid oxygenase family
uniprot
proteins
pubmed
11150319
uniprot
proteins
pubmed
11740468
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15765048
uniprot
proteins
pubmed
17251447
uniprot
proteins
pubmed
18474598
uniprot
proteins
pubmed
19468303
uniprot
proteins
pubmed
23407971
uniprot
proteins
pubmed
28500718
uniprot
proteins
pubmed
29659842
uniprot
proteins
pubmed
30628748
uniprot
proteins
pubmed
9843205
uniprot
proteins
sequence_length
533
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:A9C3R9}. Cell membrane {ECO:0000250|UniProtKB:Q28175}; Lipid-anchor {ECO:0000250|UniProtKB:Q28175}. Microsome membrane {ECO:0000250|UniProtKB:Q28175}. Note=Attached to the membrane by a lipid anchor when palmitoylated (membrane form), soluble when unpalmitoylated. Undergoes light-dependent intracellular transport to become more concentrated in the central region of the retina pigment epithelium cells (By similarity). {ECO:0000250|UniProtKB:Q16518, ECO:0000250|UniProtKB:Q28175}.
uniprot
proteins