Rpe65 retinoid isomerohydrolase RPE65 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Rpe65provided by RGD
Official Full Name: retinoid isomerohydrolase RPE65provided by RGD
Primary source: RGD:621396
See related: Ensembl:ENSRNOG00000009582 AllianceGenome:RGD:621396
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Enables all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity. Involved in several processes, including circadian rhythm; neural retina development; and retinoid metabolic process. Located in cell body. 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: Biased expression in Brain (RPKM 24.8) and Heart (RPKM 5.6) See more
Orthologs: human mouse all
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Genomic context

Location:: 2q45

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	2	NC_086020.1 (251425228..251457209)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	2	NC_051337.1 (248766497..248798403)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	2	NC_005101.4 (266141581..266169197)

Chromosome 2 - NC_086020.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The damaged retinal pigment epithelium showed earlier expression of PCNA and RPE65 than photoreceptor out segments
Title: Ultrastructural Changes and Expression of PCNA and RPE65 in Sodium Iodate-Induced Acute Retinal Pigment Epithelium Degeneration Model.
Alpha-phenyl-N-tert-butylnitrone (PBN) prevents light-induced degeneration of the retina by inhibiting RPE65 protein isomerohydrolase activity.
Title: Alpha-phenyl-N-tert-butylnitrone (PBN) prevents light-induced degeneration of the retina by inhibiting RPE65 protein isomerohydrolase activity.

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by RGD

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	IMP Inferred from Mutant Phenotype more info	PubMed
enables all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity	ISO Inferred from Sequence Orthology more info
enables all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity	ISS Inferred from Sequence or Structural Similarity more info
enables all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity	ISO Inferred from Sequence Orthology more info
enables all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity	ISS Inferred from Sequence or Structural Similarity more info
enables beta-carotene 15,15'-dioxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables cardiolipin binding	ISS Inferred from Sequence or Structural Similarity more info
enables isomerase activity	ISO Inferred from Sequence Orthology more info
enables isomerase activity	ISS Inferred from Sequence or Structural Similarity 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 phosphatidylcholine binding	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylserine binding	ISS Inferred from Sequence or Structural Similarity more info
enables retinol isomerase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in camera-type eye development	IEP Inferred from Expression Pattern more info	PubMed
involved_in circadian rhythm	IEP Inferred from Expression Pattern more info	PubMed
involved_in detection of light stimulus involved in visual perception	ISO Inferred from Sequence Orthology more info
involved_in neural retina development	IDA Inferred from Direct Assay more info	PubMed
involved_in response to light stimulus	IEP Inferred from Expression Pattern more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retinoid metabolic process	ISO Inferred from Sequence Orthology more info
involved_in retinol metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in 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
involved_in zeaxanthin biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cell body	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

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 65; retinal pigment epithelium 65-like; retinal pigment epithelium-specific 65 kDa protein; retinal pigment epithelium-specific protein 65; retinol isomerase

NP_446014.2

EC 3.1.1.64

EC 5.3.3.22

XP_038959207.1

EC 3.1.1.64

EC 5.3.3.22

XP_038959208.1

EC 3.1.1.64

EC 5.3.3.22

XP_038959210.1

EC 3.1.1.64

EC 5.3.3.22

XP_038959211.1

EC 3.1.1.64

EC 5.3.3.22

XP_063138717.1

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.

mRNA and Protein(s)

NM_053562.3 → NP_446014.2 retinoid isomerohydrolase

See identical proteins and their annotated locations for NP_446014.2

Status: VALIDATED

Source sequence(s)

JAXUCZ010000002

UniProtKB/Swiss-Prot

F1M8Q2, O70276

UniProtKB/TrEMBL

A0A8L2QKB1

Related

ENSRNOP00000069757.1, ENSRNOT00000078187.2

Conserved Domains (1) summary

pfam03055
Location:21 → 530

RPE65; Retinal pigment epithelial membrane protein

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

NC_086020.1 Reference GRCr8

Range

251425228..251457209

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_039103279.2 → XP_038959207.1 retinoid isomerohydrolase isoform X1

UniProtKB/TrEMBL

A0A8L2QKB1

Conserved Domains (1) summary

pfam03055
Location:20 → 559

RPE65; Retinal pigment epithelial membrane protein
XM_039103280.2 → XP_038959208.1 retinoid isomerohydrolase isoform X2

UniProtKB/TrEMBL

A0A8L2QKB1

Conserved Domains (1) summary

pfam03055
Location:20 → 523

RPE65; Retinal pigment epithelial membrane protein
XM_039103282.2 → XP_038959210.1 retinoid isomerohydrolase isoform X4

UniProtKB/TrEMBL

A0A8L2QKB1

Conserved Domains (1) summary

pfam03055
Location:4 → 467

RPE65; Retinal pigment epithelial membrane protein
XM_063282647.1 → XP_063138717.1 retinoid isomerohydrolase isoform X3
XM_039103283.2 → XP_038959211.1 retinoid isomerohydrolase isoform X5

Conserved Domains (1) summary

cl10080
Location:20 → 245

RPE65; Retinal pigment epithelial membrane protein