| Gene Symbol | RPE65 |
|---|---|
| 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 |
RPE65 CRISPR/Cas9 KO Plasmid (h) - sc-401489 from Santa Cruz Biotechnology
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RPE65 HDR Plasmid (h) - sc-401489-HDR from Santa Cruz Biotechnology
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RPE65 Double Nickase Plasmid (h) - sc-401489-NIC from Santa Cruz Biotechnology
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RPE65 Double Nickase Plasmid (h2) - sc-401489-NIC-2 from Santa Cruz Biotechnology
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RPE65 CRISPR Activation Plasmid (h) - sc-401489-ACT from Santa Cruz Biotechnology
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RPE65 CRISPR Activation Plasmid (h2) - sc-401489-ACT-2 from Santa Cruz Biotechnology
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RPE65 Lentiviral Activation Particles (h) - sc-401489-LAC from Santa Cruz Biotechnology
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RPE65 Lentiviral Activation Particles (h2) - sc-401489-LAC-2 from Santa Cruz Biotechnology
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RPE65 siRNA (h) - sc-44898 from Santa Cruz Biotechnology
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RPE65 shRNA Plasmid (h) - sc-44898-SH from Santa Cruz Biotechnology
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RPE65 shRNA (h) Lentiviral Particles - sc-44898-V from Santa Cruz Biotechnology
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MISSION® esiRNA - EHU054351 from Sigma-Aldrich
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CompoZr® Knockout ZFN Kit - CKOZFN18524 from Sigma-Aldrich
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CompoZr® Knockout ZFN Kit, ZFN plasmid only - CKOZFND18524 from Sigma-Aldrich
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MISSION® 3′UTR Lenti GoClone™ - HUTR08080 from Sigma-Aldrich
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RPE65 siRNA (Human) - CRH4115 from Cohesion Biosciences
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RPE65 - MBS8206182 from MyBioSource
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shRNA set against Human RPE65 (NM_000329.2) - SHH397948 from Creative biogene
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shRNA set against Human RPE65(NM_000329.2) - SHR187980 from Creative biogene
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RPE65 shRNA Plasmid (Human) - CHH4115 from Cohesion Biosciences
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RPE65 miRNA 3'UTR clone - MiUTR1H-08968 from Creative biogene
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