Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Rpe65. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Rpe65
  • participates in the following biological processes:
    • cellular response to electrical stimulus ^[4]
    • insulin receptor signaling pathway ^[2]
    • regulation of rhodopsin gene expression ^[3]
    • retina development in camera-type eye ^[4]
    • retina morphogenesis in camera-type eye ^[4]
    • retinal metabolic process ^[3]
    • visual perception ^[3]
  • performs the following molecular functions:
    • retinal isomerase activity ^[1]

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Rpe65 indicates that it:
  • participates in the following biological processes:
    • response to stimulus
  • performs the following molecular functions:
    • hydrolase activity
    • isomerase activity
    • metal ion binding
  • is located in the following cellular components:
    • cytoplasm
    • endoplasmic reticulum
    • intracellular membrane-bounded organelle
    • membrane
    • plasma membrane
• Rpe65 has been associated with the Enzyme Commission numbers: 3.1.1.64, which implies that the gene product:
  • performs the following molecular functions:
    • all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity
    • all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity

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References

1. Golczak M et al. (2008) Metabolic basis of visual cycle inhibition by retinoid and nonretinoid compounds in the vertebrate retina. J Biol Chem, 283:9543-54. (PubMed:18195010)
2. Rajala A et al. (2007) G-protein-coupled receptor rhodopsin regulates the phosphorylation of retinal insulin receptor. J Biol Chem, 282:9865-73. (PubMed:17272282)
3. Van Hooser JP et al. (2002) Recovery of visual functions in a mouse model of Leber congenital amaurosis. J Biol Chem, 277:19173-82. (PubMed:11897783)
4. Won J et al. (2011) Mouse model resources for vision research. J Ophthalmol, 2011:391384. (PubMed:21052544)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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