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| # | Reference Title | Reference Citation |
| 1. | Increased light damage susceptibility at night does not correlate with RPE65 levels and rhodopsin regeneration in rats. | Beatrice J, etal., Exp Eye Res. 2003 Jun;76(6):695-700. |
| 2. | A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. | Bowne SJ, etal., Eur J Hum Genet. 2011 Oct;19(10):1074-81. doi: 10.1038/ejhg.2011.86. Epub 2011 Jun 8. |
| 3. | The visual cycle operates via an isomerase acting on all-trans retinol in the pigment epithelium. | Bridges CD and Alvarez RA, Science. 1987 Jun 26;236(4809):1678-80. |
| 4. | Distribution of retinol isomerase in vertebrate eyes and its emergence during retinal development. | Bridges CD Vision Res. 1989;29(12):1711-7. |
| 5. | RPE65 gene delivery restores isomerohydrolase activity and prevents early cone loss in Rpe65-/- mice. | Chen Y, etal., Invest Ophthalmol Vis Sci. 2006 Mar;47(3):1177-84. |
| 6. | Genes and mutations causing retinitis pigmentosa. | Daiger SP, etal., Clin Genet. 2013 Aug;84(2):132-41. doi: 10.1111/cge.12203. Epub 2013 Jun 19. |
| 7. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 8. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
| 9. | Expression of RPE65, a putative receptor for plasma retinol-binding protein, in nonmelanocytic skin tumours. | Hinterhuber G, etal., Br J Dermatol. 2005 Oct;153(4):785-9. |
| 10. | Localizations of visual cycle components in retinal pigment epithelium. | Huang J, etal., Mol Vis. 2009;15:223-34. Epub 2009 Jan 26. |
| 11. | Retinal gene expression and visually evoked behavior in diabetic long evans rats. | Kirwin SJ, etal., Invest Ophthalmol Vis Sci. 2011 Sep 29;52(10):7654-63. doi: 10.1167/iovs.10-6609. |
| 12. | Key enzymes of the retinoid (visual) cycle in vertebrate retina. | Kiser PD, etal., Biochim Biophys Acta. 2012 Jan;1821(1):137-51. Epub 2011 Apr 5. |
| 13. | Alpha-phenyl-N-tert-butylnitrone (PBN) prevents light-induced degeneration of the retina by inhibiting RPE65 protein isomerohydrolase activity. | Mandal MN, etal., J Biol Chem. 2011 Sep 16;286(37):32491-501. Epub 2011 Jul 24. |
| 14. | Rat messenger RNA for the retinal pigment epithelium-specific protein RPE65 gradually accumulates in two weeks from late embryonic days. | Manes G, etal., FEBS Lett 1998 Feb 20;423(2):133-7. |
| 15. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 16. | Experimental autoimmune uveitis induced by immunization with retinal pigment epithelium-specific 65-kDa protein peptides. | Nakamura H, etal., Curr Eye Res. 2005 Aug;30(8):673-80. |
| 17. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 18. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 19. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 20. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
| 21. | GOA pipeline | RGD automated data pipeline |
| 22. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 23. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 24. | R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal. | Samardzija M, etal., Hum Mol Genet. 2008 Jan 15;17(2):281-92. Epub 2007 Oct 12. |
| 25. | Delayed loss of cone and remaining rod photoreceptor cells due to impairment of choroidal circulation after acute light exposure in rats. | Tanito M, etal., Invest Ophthalmol Vis Sci. 2007 Apr;48(4):1864-72. |
| 26. | Transplantation of reprogrammed embryonic stem cells improves visual function in a mouse model for retinitis pigmentosa. | Wang NK, etal., Transplantation. 2010 Apr 27;89(8):911-9. doi: 10.1097/TP.0b013e3181d45a61. |
| 27. | Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis. | Woodruff ML, etal., Nat Genet 2003 Oct;35(2):158-64. Epub 2003 Sep 21. |
| 28. | Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. | Wright AF, etal., Nat Rev Genet. 2010 Apr;11(4):273-84. doi: 10.1038/nrg2717. |
| 29. | The Rpe65 rd12 allele exerts a semidominant negative effect on vision in mice. | Wright CB, etal., Invest Ophthalmol Vis Sci. 2014 Apr 17;55(4):2500-15. doi: 10.1167/iovs.13-13574. |
| PMID:11897783 | PMID:15557452 | PMID:16150724 | PMID:17251447 | PMID:17272282 | PMID:18195010 | PMID:21052544 | PMID:25112876 | PMID:28500718 | PMID:28874556 | PMID:29569173 | PMID:29659842 |
| Rpe65 (Rattus norvegicus - Norway rat) |
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| RPE65 (Homo sapiens - human) |
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| Rpe65 (Mus musculus - house mouse) |
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| Rpe65 (Chinchilla lanigera - long-tailed chinchilla) |
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| RPE65 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| RPE65 (Canis lupus familiaris - dog) |
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| Rpe65 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| RPE65 (Sus scrofa - pig) |
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| RPE65 (Chlorocebus sabaeus - green monkey) |
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| Rpe65 (Heterocephalus glaber - naked mole-rat) |
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| Rpe65 (Rattus rattus - black rat) |
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| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
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alimentary part of gastrointestinal system
|
appendage
|
circulatory system
|
ectoderm
|
endocrine system
|
endoderm
|
exocrine system
|
hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
|
reproductive system
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respiratory system
|
sensory system
|
visual system
|
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 8 | 10 | 40 | 102 | 59 | 57 | 27 | 24 | 27 | 6 | 159 | 94 | 9 | 73 | 22 | 40 | 30 | 7 | 7 |
| RefSeq Transcripts | NM_053562 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_017591147 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039103279 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039103280 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039103282 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039103283 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063282647 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AF035673 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| CH473952 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000002 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000051951 ⟹ ENSRNOP00000040609 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
|
| Ensembl Acc Id: | ENSRNOT00000078187 ⟹ ENSRNOP00000069757 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
|
| Ensembl Acc Id: | ENSRNOT00000159605 ⟹ ENSRNOP00000111603 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | NM_053562 ⟹ NP_446014 | ||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
|
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| Sequence: |
| RefSeq Acc Id: | XM_039103279 ⟹ XP_038959207 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| RefSeq Acc Id: | XM_039103280 ⟹ XP_038959208 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| RefSeq Acc Id: | XM_039103282 ⟹ XP_038959210 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| RefSeq Acc Id: | XM_039103283 ⟹ XP_038959211 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| RefSeq Acc Id: | XM_063282647 ⟹ XP_063138717 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| Protein RefSeqs | NP_446014 | (Get FASTA) | NCBI Sequence Viewer |
| XP_038959207 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038959208 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038959210 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038959211 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063138717 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAC40059 | (Get FASTA) | NCBI Sequence Viewer |
| EDL82582 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000069757 | ||
| ENSRNOP00000069757.1 | |||
| ENSRNOP00000111603 | |||
| GenBank Protein | O70276 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_446014 ⟸ NM_053562 |
| - UniProtKB: | F1M8Q2 (UniProtKB/Swiss-Prot), O70276 (UniProtKB/Swiss-Prot), A0A8L2QKB1 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000040609 ⟸ ENSRNOT00000051951 |
| Ensembl Acc Id: | ENSRNOP00000069757 ⟸ ENSRNOT00000078187 |
| RefSeq Acc Id: | XP_038959208 ⟸ XM_039103280 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | A0A8L2QKB1 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_038959207 ⟸ XM_039103279 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | A0A8L2QKB1 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_038959210 ⟸ XM_039103282 |
| - Peptide Label: | isoform X4 |
| - UniProtKB: | A0A8L2QKB1 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_038959211 ⟸ XM_039103283 |
| - Peptide Label: | isoform X5 |
| RefSeq Acc Id: | XP_063138717 ⟸ XM_063282647 |
| - Peptide Label: | isoform X3 |
| - UniProtKB: | A0A8L2QKB1 (UniProtKB/TrEMBL) |
| Ensembl Acc Id: | ENSRNOP00000111603 ⟸ ENSRNOT00000159605 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-O70276-F1-model_v2 | AlphaFold | O70276 | 1-533 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:621396 | AgrOrtholog |
| BioCyc Gene | G2FUF-50686 | BioCyc |
| BioCyc Pathway | PWY-6861 [the visual cycle I (vertebrates)] | BioCyc |
| BioCyc Pathway Image | PWY-6861 | BioCyc |
| Ensembl Genes | ENSRNOG00000009582 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Transcript | ENSRNOT00000078187 | ENTREZGENE |
| ENSRNOT00000078187.2 | UniProtKB/Swiss-Prot | |
| ENSRNOT00000159605 | ENTREZGENE | |
| InterPro | Carotenoid_Oase | UniProtKB/Swiss-Prot |
| KEGG Report | rno:89826 | UniProtKB/Swiss-Prot |
| NCBI Gene | 89826 | ENTREZGENE |
| PANTHER | PTHR10543 | UniProtKB/Swiss-Prot |
| RETINOID ISOMEROHYDROLASE | UniProtKB/Swiss-Prot | |
| Pfam | RPE65 | UniProtKB/Swiss-Prot |
| PhenoGen | Rpe65 | PhenoGen |
| RatGTEx | ENSRNOG00000009582 | RatGTEx |
| UniProt | A0A8L2QKB1 | ENTREZGENE, UniProtKB/TrEMBL |
| A0ABK0M4T7_RAT | UniProtKB/TrEMBL | |
| F1M8Q2 | ENTREZGENE | |
| O70276 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| UniProt Secondary | F1M8Q2 | UniProtKB/Swiss-Prot |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2019-04-03 | Rpe65 | retinoid isomerohydrolase RPE65 | Rpe65 | RPE65, retinoid isomerohydrolase | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2016-07-13 | Rpe65 | RPE65, retinoid isomerohydrolase | Rpe65 | retinal pigment epithelium-specific protein 65 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2015-04-02 | Rpe65 | retinal pigment epithelium-specific protein 65 | Rpe65 | retinal pigment epithelium 65 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2005-01-20 | Rpe65 | retinal pigment epithelium 65 | retinal pigment epithelium, 65 kDa | Name updated | 1299863 | APPROVED | |
| 2002-08-07 | Rpe65 | retinal pigment epithelium, 65 kDa | Symbol and Name status set to provisional | 70820 | PROVISIONAL |