| 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
|