Rpe65 retinal pigment epithelium 65 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rpe65provided by MGI
Official Full Name: retinal pigment epithelium 65provided by MGI
Primary source: MGI:MGI:98001
See related: Ensembl:ENSMUSG00000028174 AllianceGenome:MGI:98001
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: LCA2; RP20; rd12; 65kDa; Mord1; A930029L06Rik
Summary: Enables retinal isomerase activity. Acts upstream of or within several processes, including cellular response to electrical stimulus; insulin receptor signaling pathway; and retinal metabolic process. Located in cytoplasm; nucleus; and plasma membrane. Is expressed in eye; pelvic urothelial lining; pigmented retinal epithelium; and urothelium of ureter. Used to study Leber congenital amaurosis 2 and retinitis pigmentosa 20. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 2; retinitis pigmentosa; retinitis pigmentosa 20; and retinitis pigmentosa 87. Orthologous to human RPE65 (retinoid isomerohydrolase RPE65). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 3 H4; 3 82.52 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (159304712..159330944)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (159599075..159625307)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Environmental Light Has an Essential Effect on the Disease Expression in a Dominant RPE65 Mutation.
Title: Environmental Light Has an Essential Effect on the Disease Expression in a Dominant RPE65 Mutation.
Gene Supplementation in Mice Heterozygous for the D477G RPE65 Variant Implicated in Autosomal Dominant Retinitis Pigmentosa.
Title: Gene Supplementation in Mice Heterozygous for the D477G RPE65 Variant Implicated in Autosomal Dominant Retinitis Pigmentosa.
The interplay of environmental luminance and genetics in the retinal dystrophy induced by the dominant RPE65 mutation.
Title: The interplay of environmental luminance and genetics in the retinal dystrophy induced by the dominant RPE65 mutation.
In vivo base editing rescues cone photoreceptors in a mouse model of early-onset inherited retinal degeneration.
Title: In vivo base editing rescues cone photoreceptors in a mouse model of early-onset inherited retinal degeneration.
The pathological changes in the inner and outer segments layer of RPE65-/- mice were identified as diffuse hyperreflective changes on optical coherence tomography.
Title: The findings of optical coherence tomography of retinal degeneration in relation to the morphological and electroretinographic features in RPE65-/- mice.
Rod a-wave and cone b-wave amplitudes of electroretinograms were increased in Cntf (-/-) mice, but rod b-wave amplitudes were unchanged compared with those in WT mice. Up-regulated RPE65 and LRAT levels accelerated both the visual cycle rate and recovery rate of rod light sensitivity in Cntf (-/-) mice.
Title: Ciliary neurotrophic factor (CNTF) protects retinal cone and rod photoreceptors by suppressing excessive formation of the visual pigments.
These results indicate that a toxic gain-of-function induced by the D477G RPE65 substitution may play a role in the pathogenesis of this form of dominant retinitis pigmentosa
Title: Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65.
The present study describes identification of CU239, a novel non-retinoid inhibitor of RPE65, a key enzyme in the visual cycle. Our data demonstrated that CU239 selectively inhibited isomerase activity of RPE65, with IC50 of 6muM.
Title: A novel RPE65 inhibitor CU239 suppresses visual cycle and prevents retinal degeneration.
Study describes a mouse model of Leber's Congenital Amaurosis type 2 with mutation in Rpe65 gene. Functional and biochemical studies confirm that vitamin A metabolism and visual processing are disrupted in this model.
Title: Mouse Models as Tools to Identify Genetic Pathways for Retinal Degeneration, as Exemplified by Leber's Congenital Amaurosis.
The loss of ERK1/2 activity resulted in a significant decrease in the level of RPE65 expression, a decrease in ocular retinoid levels concomitant with low visual function, and a rapid disorganization of RPE cells, ultimately leading to retinal degeneration.
Title: Loss of Extracellular Signal-Regulated Kinase 1/2 in the Retinal Pigment Epithelium Leads to RPE65 Decrease and Retinal Degeneration.

Submit: New GeneRIF Correction See all GeneRIFs (51)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (2)
Chemically induced (ENU) (1) 1 citation
Targeted (7) 1 citation
QTL (2) 1 citation
Endonuclease-mediated (5)

General gene information

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Markers

Rpe65 (e-PCR), detects polymorphism
- UniSTS:166229

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity	IBA Inferred from Biological aspect of Ancestor more info
enables all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity	ISO Inferred from Sequence Orthology more info
enables all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity	ISO Inferred from Sequence Orthology more info
enables beta-carotene 15,15'-dioxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables isomerase activity	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables retinol isomerase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in detection of light stimulus involved in visual perception	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in neural retina development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to stimulus	IEA Inferred from Electronic Annotation more info
involved_in retina homeostasis	ISO Inferred from Sequence Orthology more info
involved_in retinal metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in retinal metabolic process	ISO Inferred from Sequence Orthology more info
involved_in retinoid metabolic process	ISO Inferred from Sequence Orthology more info
involved_in retinol metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within visual perception	IEA Inferred from Electronic Annotation more info
involved_in zeaxanthin biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in zeaxanthin biosynthetic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cell body	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: retinoid isomerohydrolase

Names: all-trans-retinyl-palmitate hydrolase; lutein isomerase; meso-zeaxanthin isomerase; modifier of retinal degeneration 1; retinal pigment epithelium, 65 kDa; retinal pigment epithelium-specific 65 kDa protein; retinol isomerase

NP_084263.2

EC 3.1.1.64

EC 5.3.3.22

XP_006501228.1

EC 3.1.1.64

EC 5.3.3.22

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.