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RPE65 retinoid isomerohydrolase RPE65 [ Homo sapiens (human) ]

Gene ID: 6121, updated on 23-Mar-2024

Summary

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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
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Genomic context

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Location:
1p31.3
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (68428822..68449954, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (68306207..68327339, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (68894505..68915637, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378782 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:68759281-68760159 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:68760160-68761038 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:68761039-68761917 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:68849743-68850942 Neighboring gene elongin C pseudogene 18 Neighboring gene uncharacterized LOC124904198 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:68924860-68926059 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:68930526-68931161 Neighboring gene DEP domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1184 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1185 Neighboring gene DEPDC1 antisense RNA 1 Neighboring gene thioredoxin pseudogene 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: 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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Related articles in PubMed

  1. Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee. Han J, et al. Korean J Ophthalmol, 2023 Apr. PMID 36950921, Free PMC Article
  2. The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner. Vázquez-Domínguez I, et al. Cells, 2022 Nov 17. PMID 36429068, Free PMC Article
  3. Frequency of RPE65 Gene Mutation in Patients with Hereditary Retinal Dystrophy. Kahraman NS, et al. Turk J Ophthalmol, 2022 Aug 25. PMID 36017377, Free PMC Article
  4. Predicting potentially pathogenic effects of hRPE65 missense mutations: a computational strategy based on molecular dynamics simulations. Poli G, et al. J Enzyme Inhib Med Chem, 2022 Dec. PMID 35726567, Free PMC Article
  5. RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study. Testa F, et al. Invest Ophthalmol Vis Sci, 2022 Feb 1. PMID 35129589, Free PMC Article

See all (131) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. RPE65-Associated Retinal Dystrophies: Phenotypes and Treatment Effects with Voretigene Neparvovec.
    Title: RPE65-Associated Retinal Dystrophies: Phenotypes and Treatment Effects with Voretigene Neparvovec.
  2. 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.
  3. 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.
  4. 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.
  5. Frequency of RPE65 Gene Mutation in Patients with Hereditary Retinal Dystrophy.
    Title: Frequency of RPE65 Gene Mutation in Patients with Hereditary Retinal Dystrophy.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. Current Management of Patients with RPE65 Mutation-Associated Inherited Retinal Degenerations in Europe: Results of a Multinational Survey by the European Vision Institute Clinical Research Network.
    Title: Current Management of Patients with RPE65 Mutation-Associated Inherited Retinal Degenerations in Europe: Results of a Multinational Survey by the European Vision Institute Clinical Research Network.
Submit: New GeneRIF Correction See all GeneRIFs (99)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 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
NP_001393782.1
NP_001393785.1
NP_001393786.1
NP_001393788.1
NP_001393789.1

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

  1. NG_008472.2 RefSeqGene

    Range
    5006..26138
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. NM_001406853.1 → NP_001393782.1  retinoid isomerohydrolase isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL139413

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

    Status: REVIEWED

    Source sequence(s)
    AL139413

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

    Status: REVIEWED

    Source sequence(s)
    AL139413

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

    Status: REVIEWED

    Source sequence(s)
    AL139413, KF454958

  6. NM_001406860.1 → NP_001393789.1  retinoid isomerohydrolase isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL139413

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    68428822..68449954 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    68306207..68327339 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q16518.3 GenPept UniProtKB/Swiss-Prot:Q16518

Gene LinkOut

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