Gene Symbol | RPE65 |
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Entrez Gene | 6121 |
Alt Symbol | BCO3, LCA2, RP20, mRPE65, rd12, sRPE65 |
Species | Human |
Gene Type | protein-coding |
Description | retinal pigment epithelium-specific protein 65kDa |
Other Description | BCO family, member 3|RBP-binding membrane protein|all-trans-retinyl-palmitate hydrolase|p63|retinal pigment epithelium-specific 65 kDa protein|retinitis pigmentosa 20 (autosomal recessive)|retinoid isomerohydrolase|retinol isomerase |
Swissprots | A8K1L0 Q16518 Q5T9U3 |
Accessions | AAC14586 AAC39660 ABD37636 ACT83679 AFF57192 CCQ42977 EAX06478 Q16518 AK289925 BAF82614 BC075035 AAH75035 BC075036 AAH75036 U18991 AAA99012 NM_000329 NP_000320 |
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}. |
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}. |
Tissue Specificity | Retinal pigment epithelium specific. {ECO:0000269|PubMed:21493626}. |
Top Pathways | Retinol metabolism |
Human RPE65 peptide - ab99880 from Abcam
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RPE65 Antibody Blocking Peptide - LS-E26633 from LifeSpan Bioscience
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RPE65 blocking peptide - GTX88833-PEP from GeneTex
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RPE65 Peptide - AC21-1469-P from Abcore
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RPE65 Peptide - 46-321P from ProSci
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RPE65 fusion protein - Ag12617 from Proteintech Group
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RPE65 fusion protein - ag12356 from Proteintech Group
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Recombinant Human RPE65, His-tagged - RPE65-2371H from Creative Biomart
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Recombinant Human RPE65 - RPE65-351H from Creative Biomart
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Recombinant Human RPE65, MYC/DDK-tagged - RPE65-246H from Creative Biomart
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Recombinant Human Retinoid isomerohydrolase(RPE65) - CSB-YP624103HU CSB-EP624103HU CSB-BP624103HU CSB-MP624103HU from Cusabio
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RPE65 - TP310433 from Acris Antibodies
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RPE65, Peptide - MBS425335 from MyBioSource
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RPE65 Antibody - SH-A15309 from Novatein Biosciences
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RPE65 Peptide, Human - M34GP13488H from Creative Peptides
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RPE65 Immunizing peptide - orb50407 from Biorbyt
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Retinoid isomerohydrolase (RPE65), Recombinant Protein - MBS1364334 from MyBioSource
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