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 |
RPE65 (E-5) - sc-390787 from Santa Cruz Biotechnology
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RPE65 (3D9) - sc-73616 from Santa Cruz Biotechnology
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RPE65 (8B11) - sc-53489 from Santa Cruz Biotechnology
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RPE65 (C-15) - sc-33294 from Santa Cruz Biotechnology
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RPE65 (H-85) - sc-32893 from Santa Cruz Biotechnology
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RPE65 (N-20) - sc-33292 from Santa Cruz Biotechnology
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RPE65 (S-18) - sc-33293 from Santa Cruz Biotechnology
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PCDHB (D-12) - sc-131744 from Santa Cruz Biotechnology
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Anti-RPE65 antibody - ab105366 from Abcam
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Anti-RPE65 antibody [EPR7024(N)] - C-terminal - ab175936 from Abcam
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Anti-RPE65 Antibody - LS-C75428 from LifeSpan Bioscience
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Anti-RPE65 Antibody (clone 401.8B11.3D9, HRP) - LS-C83724 from LifeSpan Bioscience
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Anti-RPE65 Antibody (clone 401.8B11.3D9, Biotin) - LS-C83723 from LifeSpan Bioscience
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Anti-RPE65 Antibody (Biotin) - LS-C90914 from LifeSpan Bioscience
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Anti-RPE65 Antibody (HRP) - LS-C90916 from LifeSpan Bioscience
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Anti-RPE65 Antibody (clone 401.8B11.3D9, DY550) - LS-C141120 from LifeSpan Bioscience
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Anti-RPE65 Antibody (clone 401.8B11.3D9, DY488) - LS-C141119 from LifeSpan Bioscience
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Anti-RPE65 Antibody (clone 401.8B11.3D9, DY650) - LS-C141118 from LifeSpan Bioscience
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Anti-RPE65 Antibody (aa352-364) - LS-C55421 from LifeSpan Bioscience
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Anti-RPE65 Antibody (aa49-301) - LS-C311807 from LifeSpan Bioscience
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Anti-RPE65 Antibody (Internal) - LS-C345715 from LifeSpan Bioscience
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Anti-RPE65 Antibody IHC-plus⢠- LS-B90 from LifeSpan Bioscience
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RPE65 Antibody - NB100-93437 from Novus Biologicals
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RPE65 Polyclonal Antibody - bs-9575R from Bioss
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Anti-RPE65 antibody produced in goat - SAB2500895 from Sigma-Aldrich
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