Bos taurus Gene: RPE65
Summary
InnateDB Gene IDBG-638059.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RPE65
Gene Name Retinoid isomerohydrolase
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000020494
Encoded Proteins
retinoid isomerohydrolase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000116745:
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, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:77156911-77178484
Strand Forward strand
Band
Transcripts
ENSBTAT00000043702 ENSBTAP00000041254
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004744 retinal isomerase activity
GO:0016787 hydrolase activity
GO:0016853 isomerase activity
GO:0046872 metal ion binding
GO:0052884 all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity
GO:0052885 all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity
Biological Process
GO:0001895 retina homeostasis
GO:0007468 regulation of rhodopsin gene expression
GO:0007601 visual perception
GO:0008286 insulin receptor signaling pathway
GO:0042572 retinol metabolic process
GO:0042574 retinal metabolic process
GO:0050896 response to stimulus
GO:0050908 detection of light stimulus involved in visual perception
GO:0060041 retina development in camera-type eye
GO:0060042 retina morphogenesis in camera-type eye
GO:0071257 cellular response to electrical stimulus
Cellular Component
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0031090 organelle membrane
GO:0043231 intracellular membrane-bounded organelle
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
Pathways
NETPATH
REACTOME
The canonical retinoid cycle in rods (twilight vision) pathway
Visual phototransduction pathway
Signal Transduction pathway
Diseases associated with visual transduction pathway
Disease pathway
KEGG
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
The canonical retinoid cycle in rods (twilight vision) pathway
Signal Transduction pathway
Diseases associated with visual transduction pathway
Visual phototransduction pathway
Disease pathway
KEGG
Retinol metabolism pathway
Retinol metabolism pathway
INOH
PID NCI
Visual signal transduction: Cones
Visual signal transduction: Rods
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Bt.108
RefSeq NM_174453 XM_005204438
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas