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Gene Ontology Classifications
Symbol
Name
ID
Rpe65
retinal pigment epithelium 65
MGI:98001

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 Thursday, July 24, 2014.)
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]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text for additional MGI annotations
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)



Go Annotations in Tabular Form (Text View) (GO Graph)

 
 


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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
10/08/2014
MGI 5.20
The Jackson Laboratory