Names & Taxonomy
- Uniprot ID:
- Q16518
- Entry Name:
- RPE65_HUMAN
- Status:
- reviewed
- Protein Names:
- Retinoid isomerohydrolase (EC 3.1.1.64) (All-trans-retinyl-palmitate hydrolase) (Retinal pigment epithelium-specific 65 kDa protein) (Retinol isomerase)
- Gene Names:
- RPE65
- Gene Names Primary:
- RPE65
- Organism:
- Homo sapiens (Human)
Structure
- Length:
- 533
- Sequence:
- MSIQVEHPAGGYKKLFETVEELSSPLTAHVTGRIPLWLTGSLLRCGPGLFEVGSEPFYHLFDGQALLHKFDFKEGHVTYHRRFIRTDAYVRAMTEKRIVITEFGTCAFPDPCKNIFSRFFSYFRGVEVTDNALVNVYPVGEDYYACTETNFITKINPETLETIKQVDLCNYVSVNGATAHPHIENDGTVYNIGNCFGKNFSIAYNIVKIPPLQADKEDPISKSEIVVQFPCSDRFKPSYVHSFGLTPNYIVFVETPVKINLFKFLSSWSLWGANYMDCFESNETMGVWLHIADKKRKKYLNNKYRTSPFNLFHHINTYEDNGFLIVDLCCWKGFEFVYNYLYLANLRENWEEVKKNARKAPQPEVRRYVLPLNIDKADTGKNLVTLPNTTATAILCSDETIWLEPEVLFSGPRQAFEFPQINYQKYCGKPYTYAYGLGLNHFVPDRLCKLNVKTKETWVWQEPDSYPSEPIFVSHPDALEEDDGVVLSVVVSPGAGQKPAYLLILNAKDLSEVARAEVEINIPVTFHGLFKKS
- Proteomes:
- UP000005640
Subcellular location
- Subcellular Location:
- Cytoplasm
Function
- 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.
- Catalytic Activity:
- An all-trans-retinyl ester + H(2)O = 11-cis-retinol + a fatty acid.
- Cofactor:
- COFACTOR: Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
- Gene Ontology Go:
- cell body
endoplasmic reticulum
membrane
organelle membrane
plasma membrane
all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity
all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity
cardiolipin binding
metal ion binding
oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen
phosphatidylcholine binding
phosphatidylserine binding
retinal isomerase activity
cellular response to electrical stimulus
circadian rhythm
detection of light stimulus involved in visual perception
insulin receptor signaling pathway
neural retina development
phototransduction, visible light
regulation of rhodopsin gene expression
retina homeostasis
retina morphogenesis in camera-type eye
retinal metabolic process
retinoid metabolic process
visual perception
vitamin A metabolic process - Gene Ontology Biological Process:
- cellular response to electrical stimulus
circadian rhythm
detection of light stimulus involved in visual perception
insulin receptor signaling pathway
neural retina development
phototransduction, visible light
regulation of rhodopsin gene expression
retina homeostasis
retinal metabolic process
retina morphogenesis in camera-type eye
retinoid metabolic process
visual perception
vitamin A metabolic process - Gene Ontology Molecular Function:
- all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity
all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity
cardiolipin binding
metal ion binding
oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen
phosphatidylcholine binding
phosphatidylserine binding
retinal isomerase activity - Gene Ontology Cellular Component:
- cell body
endoplasmic reticulum
membrane
organelle membrane
plasma membrane - Keywords:
- Acetylation
Cell membrane
Complete proteome
Cytoplasm
Direct protein sequencing
Disease mutation
Endoplasmic reticulum
Hydrolase
Iron
Isomerase
Leber congenital amaurosis
Lipoprotein
Membrane
Metal-binding
Microsome
Palmitate
Phosphoprotein
Polymorphism
Reference proteome
Retinitis pigmentosa
Sensory transduction
Vision