| Gene Information | |
|---|---|
| Gene Name | RPE65 |
| Organism | Homo sapiens (Human) |
| Gene Length | 533 |
| Protein Names | Retinoid isomerohydrolase (EC 3.1.1.64) (All-trans-retinyl-palmitate hydrolase) (Lutein isomerase) (Meso-zeaxanthin isomerase) (EC 5.3.3.22) (Retinal pigment epithelium-specific 65 kDa protein) (Retinol isomerase) |
| Target Name | retinoid isomerohydrolase |
| Target Type | NA |
| Gene Age | 950 ( ENSG00000116745 ) |
| Evolutionary Stage | Euk+Bac |
| AlphaFoldDB | Q16518 |
| Gene Card | RPE65 |
| Uniprot ID | Q16518 |
| Pfam | PF03055 |
| In ASD | no |
| Allosteric Prediction | no (-0.000178282) |
| Ortholog in Animals | Alpaca_ RPE65 ( ortholog_one2one ) Dog_ RPE65 ( ortholog_one2one ) GuineaPig_ RPE65 ( ortholog_one2one ) Macaque_ RPE65 ( ortholog_one2one ) Mouse_ Rpe65 ( ortholog_one2one ) Pig_ RPE65 ( ortholog_one2one ) Rat_ Rpe65 ( ortholog_one2one ) Rabbit_ RPE65 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | BCO2, BCO1 |
| Tissue | NA |
| Tissue Specificity | Retina (at protein level). Retinal pigment epithelium specific. {ECO:0000269|PubMed:17848510, ECO:0000269|PubMed:21493626}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs61751277 rs61751281 rs61751282 rs1266217912 rs1344724754 rs61752866 rs61752869 rs61752870 rs61752873 rs61752873 rs61752871 rs61752874 rs143056561 rs1444234037 rs62642584 rs61752876 rs61752878 rs61752880 rs61752882 rs774309607 rs61752883 rs61752884 rs61752884 rs61752896 rs281865289 rs61752901 rs1375943362 rs61752905 rs149916178 rs61752908 rs1459522532 rs61752909 rs121917744 rs62653012 rs62653011 rs62635773 rs62636298 rs62636299 rs62636300 rs34627040 rs62636302 rs62637002 rs1645824187 rs62637004 rs774211361 rs62637007 rs1571158279 rs121917745 rs1193631220 rs577335767 |
| Subcellular location [CC] | Cytoplasm {ECO:0000250|UniProtKB:A9C3R9}. Cell membrane {ECO:0000269|PubMed:19049981}; Lipid-anchor {ECO:0000269|PubMed:19049981}. Microsome membrane {ECO:0000250|UniProtKB:Q28175}. Note=Attached to the membrane by a lipid anchor when palmitoylated (membrane form), soluble when unpalmitoylated. Undergoes light-dependent intracellular transport to become more concentrated in the central region of the retina pigment epithelium cells. {ECO:0000269|PubMed:19049981, ECO:0000269|PubMed:21493626}. |
| Mouse PG classification | HPG |
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