RPE65 retinoid isomerohydrolase RPE65 [Canis lupus familiaris (dog)] - Gene

Summary

Official Symbol: RPE65provided by VGNC
Official Full Name: retinoid isomerohydrolase RPE65provided by VGNC
Primary source: VGNC:VGNC:45708
See related: Ensembl:ENSCAFG00845013646 RGD:12183779
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Canis lupus familiaris
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
Orthologs: all
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Genomic context

Location:: chromosome: 6

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
106	current	ROS_Cfam_1.0 (GCF_014441545.1)	6	NC_051810.1 (77481101..77504927)
106	current	Dog10K_Boxer_Tasha (GCF_000002285.5)	6	NC_006588.4 (79498666..79521615)
106	current	UU_Cfam_GSD_1.0 (GCF_011100685.1)	6	NC_049227.1 (77422281..77446314)
106	current	UMICH_Zoey_3.1 (GCF_005444595.1)	6	NC_049266.1 (77031835..77055739)
106	current	UNSW_CanFamBas_1.0 (GCF_013276365.1)	6	NC_049747.1 (76935191..76959205)

Chromosome 6 - NC_051810.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A Comprehensive Study of the Retinal Phenotype of Rpe65-Deficient Dogs.
Title: A Comprehensive Study of the Retinal Phenotype of Rpe65-Deficient Dogs.
We examined the retinas of Rpe65-deficient dogs after RPE65 gene therapy to evaluate the preservation of rods and cone photoreceptor subtypes. We found that gene therapy preserves both rods and cones
Title: RPE65 gene therapy slows cone loss in Rpe65-deficient dogs.
The structure of the retina is well preserved in the mutant retina, but several molecular changes take place in photoreceptors and retinal neurons, whereas others reflect a change in localization of the examined proteins.
Title: Altered expression of retinal molecular markers in the canine RPE65 model of Leber congenital amaurosis.
Our findings establish that 9-cis-retinoid therapy can restore visual function in a canine model of human disease resulting from RPE65 mutations.
Title: Improvement of visual performance with intravitreal administration of 9-cis-retinal in Rpe65-mutant dogs.
Morphological aspects related to long-term functional improvement of the retina in the 4 years following rAAV-mediated gene transfer in the RPE65 null mutation.
Title: Morphological aspects related to long-term functional improvement of the retina in the 4 years following rAAV-mediated gene transfer in the RPE65 null mutation dog.
Wildtype dog RPE65 is more active than wildtype mouse RPE65. The effect of Met at aa450 is more severe in mouse RPE65 than in dog. Effects of variation at residues 446 (K or R) modulate variation at aa450.
Title: Effect of Leu/Met variation at residue 450 on isomerase activity and protein expression of RPE65 and its modulation by variation at other residues.
Despite local structural alterations at the subretinal injection site, subretinal gene transfer in the RPE65 null mutation dog effectively increases retinal function for at least 3 years after surgery.
Title: Assessment of structure and function over a 3-year period after gene transfer in RPE65-/- dogs.

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General gene information

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Gene Ontology Provided by RefSeq

Function	Evidence Code	Pubs
enables all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity	IEA Inferred from Electronic Annotation more info	PubMed
enables beta-carotene 15,15'-dioxygenase activity	IEA Inferred from Electronic Annotation more info	PubMed
enables retinol isomerase activity	IEA Inferred from Electronic Annotation more info	PubMed

Process	Evidence Code	Pubs
involved_in retinal metabolic process	IEA Inferred from Electronic Annotation more info	PubMed
involved_in zeaxanthin biosynthetic process	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

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Preferred Names: retinoid isomerohydrolase

Names: RPE65, retinoid isomerohydrolase; all-trans-retinyl-palmitate hydrolase; lutein isomerase; meso-zeaxanthin isomerase; retinal pigment epithelium abundant protein RPE65; retinal pigment epithelium-specific 65 kDa protein; retinal pigment epithelium-specific protein 65kDa; retinol isomerase; rpe65 gene for retinal pigment epithelium-specific protein

NP_001003176.1

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.