Rpe65 Gene Summary [Mouse]
Predicted to enable several functions, including beta-carotene 15,15'-dioxygenase activity; carboxylic ester hydrolase activity; and phospholipid binding activity. Predicted to be involved in several processes, including detection of light stimulus involved in visual perception; retina homeostasis; and terpenoid metabolic process. Located in cytoplasm; nucleus; and plasma membrane. Is expressed in eye and urinary system. Used to study Leber congenital amaurosis 2 and retinitis pigmentosa 20. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 2; retinitis pigmentosa; retinitis pigmentosa 20; and retinitis pigmentosa 87. Orthologous to human RPE65 (retinoid isomerohydrolase RPE65). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Rpe65 |
| Official Name | retinal pigment epithelium 65 [Source:MGI Symbol;Acc:MGI:98001] |
| Ensembl ID | ENSMUSG00000028174 |
| Bio databases IDs | |
| Aliases | retinal pigment epithelium 65 |
| Synonyms | A930029L06Rik, BCO3, LCA2, LOC100361609, Mord1, mRPE65, p63, rd12, retinal pigment epithelium 65, retinoid isomerohydrolase RPE65, RP20, sRPE65 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Rpe65 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- carboxylic ester hydrolase
- phospholipid binding
- Retinal pigment epithelial membrane protein
- binding protein
- isomerase
- enzyme
- protein binding
- retinyl-palmitate esterase
- All-trans-retinyl-palmitate hydrolase
Pathways
Biological processes and signaling networks where the Rpe65 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- retinal dystrophy
- Leber congenital amaurosis type 1
- retinitis pigmentosa type 20
- RPE65-related recessive retinopathy
- hereditary disorder
- Leber congenital amaurosis type 2
- autosomal recessive childhood-onset severe retinal dystrophy
- glaucoma
- Leber congenital amaurosis
- RPE65-related disorder
role in cell
- response
- degradation in
- accumulation
- degeneration
- light sensitivity
- abnormal morphology
- function
- electrophysiology
- disorganization
- density
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- membrane fraction
- cellular membrane
- Nucleus
- Plasma Membrane
- endoplasmic reticulum membrane
- perikaryon
- cone outer segments
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Rpe65 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- retina homeostasis
- detection of light stimulus involved in visual perception
- retinoid metabolic process
- neural retina development
- retinol metabolic process
- retinal metabolic process
- circadian rhythm
- visual perception
- vitamin A metabolic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- nucleus
- membrane
- cell body
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity
- phosphatidylserine binding
- all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity
- beta-carotene 15,15'-monooxygenase activity
- retinol isomerase activity
- metal ion binding
- phosphatidylcholine binding
- isomerase activity