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Rpe65
Gene Detail
 Symbol
Name
ID
Rpe65
retinal pigment epithelium 65
MGI:98001
Synonyms A930029L06Rik, Mord1, rd12
Feature Type protein coding gene
Genetic Map
Chromosome 3
82.52 cM, cytoband H4
Detailed Genetic Map ± 1 cM


Mapping data(12)
Sequence Map
Chr3:159599233-159624799 bp, + strand
From Ensembl annotation of GRCm38

  25567 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:20108  Vertebrate Homology Class
1 human; 1 mouse; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 3 zebrafish

Protein SuperFamily: carotenoid oxygenase
Gene Tree: Rpe65

Human
homologs
Human Homolog RPE65, retinal pigment epithelium-specific protein 65kDa
NCBI Gene ID 6121
neXtProt AC  NX_Q16518
Human Synonyms  LCA2, mRPE65, rd12, RP20, sRPE65
Human Chr (Location)  1p31; chr1:68428822-68453354 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human RPE65
Alleles
and
phenotypes
All alleles(8) : Targeted(4) Spontaneous(1) Chemically induced(1) QTL(2)
 
Homozygous null mutants exhibit disorganized outer segment discs, reduced rod function, lack of rhodopsin and lipofuscin flurophores, and over-accumulation of all-trans-retinyl esters in the retinal pigment epithelium.
 
Human Diseases Modeled Using Mouse Rpe65 (2)    Alleles Annotated to Human Diseases(3)    Phenotype Images(1)
Gene Ontology
(GO)
classifications
All GO classifications: (19 annotations)
Process cellular response to electrical stimulus, insulin receptor signaling pathway, ...
Component cytoplasm, endoplasmic reticulum, ...
Function all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity, all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity, ...
External Resources: FuncBase
Expression
Literature Summary: (6 records)
Data Summary: Results (96)    Tissues (95)    Images (2)
Theiler Stages: 22, 28
Assay TypeResults
RNA in situ 96
cDNA source data(5)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(9) Genomic(1) cDNA(6) Primer pair(2)
Microarray probesets(2)
Other database
links
Ensembl Gene ModelENSMUSG00000028174 (Evidence)
Entrez Gene19892 (Evidence)
UniGene131708
DFCITC1598774
DoTSDT.102528786
NIA Mouse Gene IndexU004029
EC3.1.1.64
Consensus CDS ProjectCCDS38683.1
International Mouse Knockout Project StatusRpe65
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000028174 Ensembl Gene Model | MGI Sequence Detail 25567 C57BL/6J ±  kb
transcript ENSMUST00000029824 Ensembl | MGI Sequence Detail 1602 Not Applicable 
polypeptide ENSMUSP00000029824 Ensembl | MGI Sequence Detail 533 Not Applicable 

For the selected sequences
All sequences(25) RefSeq(7) UniProt(2)
Polymorphisms All PCR and RFLP(2) : PCR(1) RFLP(1) SNPs within 2kb(93 from dbSNP Build 137)    SNPs within 2kb including multiple locations(103)
Protein-related
information
ResourceIDDescription
InterPro IPR004294 Carotenoid oxygenase
Protein Ontology PR:000014179 retinal pigment epithelium-specific 65 kDa protein
References (Earliest) J:13626 Ferguson JM, et al., Stumpy. Mouse News Lett. 1973;49:23
(Latest) J:204974 Maeda T, et al., Retinal pigmented epithelial cells obtained from human induced pluripotent stem cells possess functional visual cycle enzymes in vitro and in vivo. J Biol Chem. 2013 Nov 29;288(48):34484-93
All references(159)
Other
accession IDs
MGD-MRK-14024, MGI:1859912, MGI:1925068, MGI:2157075

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory