RPE65 retinoid isomerohydrolase RPE65 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RPE65provided by HGNC
Official Full Name: retinoid isomerohydrolase RPE65provided by HGNC
Primary source: HGNC:HGNC:10294
See related: Ensembl:ENSG00000116745 MIM:180069; AllianceGenome:HGNC:10294
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: p63; BCO3; LCA2; RP20; rd12; mRPE65; sRPE65
Summary: The protein encoded by this gene is a component of the vitamin A visual cycle of the retina which supplies the 11-cis retinal chromophore of the photoreceptors opsin visual pigments. It is a member of the carotenoid cleavage oxygenase superfamily. All members of this superfamily are non-heme iron oxygenases with a seven-bladed propeller fold and oxidatively cleave carotenoid carbon:carbon double bonds. However, the protein encoded by this gene has acquired a divergent function that involves the concerted O-alkyl ester cleavage of its all-trans retinyl ester substrate and all-trans to 11-cis double bond isomerization of the retinyl moiety. As such, it performs the essential enzymatic isomerization step in the synthesis of 11-cis retinal. Mutations in this gene are associated with early-onset severe blinding disorders such as Leber congenital. [provided by RefSeq, Oct 2017]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 1p31.3

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (68428822..68449954, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (68306207..68327339, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (68894505..68915637, complement)

Chromosome 1 - NC_000001.11 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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RPE65 mutations in Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa from a tertiary eye care center in India.
Title: RPE65 mutations in Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa from a tertiary eye care center in India.
RPE65-Associated Retinal Dystrophies: Phenotypes and Treatment Effects with Voretigene Neparvovec.
Title: RPE65-Associated Retinal Dystrophies: Phenotypes and Treatment Effects with Voretigene Neparvovec.
Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants.
Title: Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants.
Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee.
Title: Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee.
The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner.
Title: The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner.
Frequency of RPE65 Gene Mutation in Patients with Hereditary Retinal Dystrophy.
Title: Frequency of RPE65 Gene Mutation in Patients with Hereditary Retinal Dystrophy.
Predicting potentially pathogenic effects of hRPE65 missense mutations: a computational strategy based on molecular dynamics simulations.
Title: Predicting potentially pathogenic effects of hRPE65 missense mutations: a computational strategy based on molecular dynamics simulations.
Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review.
Title: Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review.
Perifoveal Chorioretinal Atrophy after Subretinal Voretigene Neparvovec-rzyl for RPE65-Mediated Leber Congenital Amaurosis.
Title: Perifoveal Chorioretinal Atrophy after Subretinal Voretigene Neparvovec-rzyl for RPE65-Mediated Leber Congenital Amaurosis.
RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study.
Title: RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study.

Submit: New GeneRIF Correction See all GeneRIFs (100)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Leber congenital amaurosis 2 MedGen: C1859844 OMIM: 204100 GeneReviews: Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview, RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy	not available
Retinitis pigmentosa 20 MedGen: C3151086 OMIM: 613794 GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview	not available
Retinitis pigmentosa 87 with choroidal involvement MedGen: C5231465 OMIM: 618697 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH92230 (e-PCR)
- UniSTS:89397

RH80292 (e-PCR)
- UniSTS:86124

SHGC-31528 (e-PCR)
- UniSTS:17539

PMC19699P1 (e-PCR)
- UniSTS:271830

PMC19699P10 (e-PCR)
- UniSTS:271831

PMC19699P11 (e-PCR)
- UniSTS:271832

PMC19699P12 (e-PCR)
- UniSTS:271833

PMC19699P13 (e-PCR)
- UniSTS:271834

PMC19699P14 (e-PCR)
- UniSTS:271835

PMC19699P15 (e-PCR)
- UniSTS:271836

PMC19699P2 (e-PCR)
- UniSTS:271837

PMC19699P3 (e-PCR)
- UniSTS:271838

PMC19699P4 (e-PCR)
- UniSTS:271839

PMC19699P5 (e-PCR)
- UniSTS:271840

PMC19699P6 (e-PCR)
- UniSTS:271841

PMC19699P7 (e-PCR)
- UniSTS:271842

PMC19699P8 (e-PCR)
- UniSTS:271843

PMC19699P9 (e-PCR)
- UniSTS:271844

NoName (e-PCR)
- UniSTS:482283

Gene Ontology Provided by GOA

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	ISS Inferred from Sequence or Structural Similarity more info
enables all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity	IDA Inferred from Direct Assay more info	PubMed
enables all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity	TAS Traceable Author Statement 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	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	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 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 circadian rhythm	IEA Inferred from Electronic Annotation more info
involved_in detection of light stimulus involved in visual perception	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neural retina development	IEA Inferred from Electronic Annotation more info
involved_in retina homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retinal metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in retinoid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in retinoid metabolic process	TAS Traceable Author Statement more info
involved_in retinol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in visual perception	TAS Traceable Author Statement more info	PubMed
involved_in vitamin A metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in zeaxanthin biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in zeaxanthin biosynthetic process	IDA Inferred from Direct Assay more info	PubMed

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

General protein information

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Preferred Names: retinoid isomerohydrolase

Names: BCO family, member 3; RBP-binding membrane protein; RPE65, retinoid isomerohydrolase; all-trans-retinyl-palmitate hydrolase; lutein isomerase; meso-zeaxanthin isomerase; retinal pigment epithelium specific protein 65; retinal pigment epithelium-specific 65 kDa protein; retinal pigment epithelium-specific protein 65kDa; retinitis pigmentosa 20 (autosomal recessive); retinol isomerase

NP_000320.1

EC 3.1.1.64

EC 5.3.3.22

NP_001393782.1

EC 3.1.1.64

EC 5.3.3.22

NP_001393785.1

EC 3.1.1.64

EC 5.3.3.22

NP_001393786.1

EC 3.1.1.64

EC 5.3.3.22

NP_001393788.1

EC 3.1.1.64

EC 5.3.3.22

NP_001393789.1

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.

Genomic

NG_008472.2 RefSeqGene

Range

5006..26138

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000329.3 → NP_000320.1 retinoid isomerohydrolase isoform 1

See identical proteins and their annotated locations for NP_000320.1

Status: REVIEWED

Source sequence(s)

AL139413, U18991

Consensus CDS

CCDS643.1

UniProtKB/Swiss-Prot

A8K1L0, Q16518, Q5T9U3

Related

ENSP00000262340.5, ENST00000262340.6

Conserved Domains (1) summary

pfam03055
Location:20 → 530

RPE65; Retinal pigment epithelial membrane protein
NM_001406853.1 → NP_001393782.1 retinoid isomerohydrolase isoform 2

Status: REVIEWED

Source sequence(s)

AL139413
NM_001406856.1 → NP_001393785.1 retinoid isomerohydrolase isoform 3

Status: REVIEWED

Source sequence(s)

AL139413
NM_001406857.1 → NP_001393786.1 retinoid isomerohydrolase isoform 3

Status: REVIEWED

Source sequence(s)

AL139413
NM_001406859.1 → NP_001393788.1 retinoid isomerohydrolase isoform 4

Status: REVIEWED

Source sequence(s)

AL139413, KF454958

Related

ENSP00000519234.1, ENST00000713937.1
NM_001406860.1 → NP_001393789.1 retinoid isomerohydrolase isoform 5

Status: REVIEWED

Source sequence(s)

AL139413