| URN | urn:agi-llid:6121 |
|---|---|
| Total Entities | 0 |
| Connectivity | 110 |
| Name | Rpe65 |
| Description | retinal pigment epithelium-specific protein 65kDa |
| Notes | This gene encodes a protein which is located in the retinal pigment epithelium and is involved in the production of 11-cis retinal and in visual pigment regeneration. There are two forms of this protein, a soluble form called sRPE65, and a palmitoylated, membrane-bound form known as mRPE65. mRPE65 serves as the palmitoyl donor for lecithin retinol acyl transferase (LRAT), the enzyme that catalyzes the vitamin A to all trans retinol step of the chromophore regeneration process. Both mRPE65 and sRPE65 also serve as regulatory proteins, with the ratio and concentrations of these molecules playing a role in the inhibition of 11-cis retinal synthesis. Mutations in this gene have been associated with Leber congenital amaurosis type 2 (LCA2) and retinitis pigmentosa. [provided by RefSeq] |
| GO Molecular Function | metal ion binding |
|---|---|
| isomerase activity | |
| all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity | |
| all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity | |
| retinal isomerase activity |
| GO Cellular Component | organelle membrane |
|---|---|
| plasma membrane | |
| cell body | |
| endoplasmic reticulum |
| GO Biological Process | response to stimulus |
|---|---|
| insulin receptor signaling pathway | |
| retinal metabolic process | |
| vitamin A metabolic process | |
| cellular response to electrical stimulus | |
| regulation of rhodopsin gene expression | |
| retina morphogenesis in camera-type eye | |
| retina development in camera-type eye | |
| eye development | |
| visual perception |
| Pathway | Vitamin A (retinol) metabolism and visual cycle |
|---|---|
| retinoid cycle metabolic pathway | |
| retinitis pigmentosa pathway | |
| altered retinoid cycle metabolic pathway |
| Group | response to stimulus |
|---|---|
| insulin receptor signaling pathway | |
| retinal metabolic process | |
| vitamin A metabolic process | |
| cellular response to electrical stimulus | |
| regulation of rhodopsin gene expression | |
| retina morphogenesis in camera-type eye | |
| retina development in camera-type eye | |
| eye development | |
| visual perception | |
| metal ion binding | |
| isomerase activity | |
| all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity | |
| all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity | |
| retinal isomerase activity | |
| organelle membrane | |
| plasma membrane | |
| cell body | |
| endoplasmic reticulum |
| MedScan ID | 6121 |
|---|---|
| 650903 |
| Hugo ID | 10294 |
|---|
| Human chromosome position | 1p31 |
|---|
| LocusLink ID | 6121 |
|---|---|
| 19892 | |
| 89826 | |
| 100361609 |
| Alias | LCA2 |
|---|---|
| RP20 | |
| rd12 | |
| mRPE65 | |
| sRPE65 | |
| retinoid isomerohydrolase | |
| p63 | |
| retinol isomerase | |
| RBP-binding membrane protein | |
| all-trans-retinyl-palmitate hydrolase | |
| retinitis pigmentosa 20 (autosomal recessive) | |
| retinal pigment epithelium-specific 65 kDa protein | |
| 65kDa | |
| Mord1 | |
| A930029L06Rik | |
| modifier of retinal degeneration 1 | |
| retinal pigment epithelium, 65 kDa | |
| Rpe65 | |
| retinal pigment epithelium-specific protein (65kD) | |
| retinal pigment epithelium-specific protein 65kDa | |
| retinitis pigmentosa 20 | |
| RD-12 | |
| retinal pigment epithelium 65 | |
| Retinal pigment epithelium-specific 61 kDa protein | |
| A930029L06 | |
| 65 kDa retinal pigment epithelium-specific protein | |
| modifier of retinal degeneration I | |
| Mord I | |
| OTTHUMP00000010788 | |
| LOC100361609 | |
| retinal pigment epithelium 65-like |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 180069 |
|---|---|
| 204100 | |
| 613794 |
| Unigene ID | Hs.2133 |
|---|---|
| Mm.131708 | |
| Rn.76724 |
| KEGG ID | hsa:6121 |
|---|---|
| mmu:19892 | |
| rno:89826 |
| Swiss-Prot Accession | Q16518 |
|---|---|
| H9KUX9 | |
| Q91ZQ5 | |
| O70276 | |
| Q5T9U3 | |
| Q2EKB8 | |
| Q9CTP3 |
| EC Number | 3.1.1.64 |
|---|---|
| 5.2.1.7 |
| GO ID | 0052885 |
|---|---|
| 0052884 | |
| 0016853 | |
| 0046872 | |
| 0050896 | |
| 0007601 | |
| 0006776 | |
| 0005783 | |
| 0031090 | |
| 0005886 | |
| 0004744 | |
| 0071257 | |
| 0008286 | |
| 0007468 | |
| 0060041 | |
| 0060042 | |
| 0042574 | |
| 0001654 | |
| 0044297 | |
| 0047376 | |
| 0016787 | |
| 0050251 | |
| 0005737 | |
| 0016020 | |
| 0005506 |
| Swiss-Prot ID | RPE65_RAT |
|---|---|
| RPE65_HUMAN | |
| Q5T9U3_HUMAN |
| Cell Localization | Cytoplasm |
|---|---|
| Cell membrane | |
| Microsome membrane |
| IPI ID | IPI00196676 |
|---|---|
| IPI00029250 | |
| IPI00131304 | |
| IPI00557867 |
| Mouse chromosome position | 3 87.6 cM |
|---|
| Rat chromosome position | 2q45 |
|---|
| Homologene ID | 20108 |
|---|
| MGI ID | 98001 |
|---|
| RGD ID | 621396 |
|---|