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; chr1:68894507-68915642 (-)  GRCh37.p10
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 Type	Results
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 Model	ENSMUSG00000028174 (Evidence)
Entrez Gene	19892 (Evidence)
UniGene	131708
DFCI	TC1598774
DoTS	DT.102528786
NIA Mouse Gene Index	U004029
EC	3.1.1.64
Consensus CDS Project	CCDS38683.1
International Mouse Knockout Project Status	Rpe65

Sequences

Length	Strain/Species
genomic	ENSMUSG00000028174	Ensembl Gene Model | MGI Sequence Detail	25567	C57BL/6J
transcript	ENSMUST00000029824	Ensembl | MGI Sequence Detail	1602	Not Applicable
polypeptide	ENSMUSP00000029824	Ensembl | MGI Sequence Detail	533	Not Applicable

All sequences(22) RefSeq(2) UniProt(4)

Polymorphisms

All PCR and RFLP(2) : PCR(1) RFLP(1) SNPs(63 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:191645 Zheng Q, et al., Differential proteomics and functional research following gene therapy in a mouse model of Leber congenital amaurosis. PLoS One. 2012;7(8):e44855
All references(152)

Other accession IDs

MGD-MRK-14024, MGI:1859912, MGI:1925068, MGI:2157075