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RPE65 RPE65, retinoid isomerohydrolase [ Homo sapiens (human) ]

Gene ID: 6121, updated on 12-Aug-2018
Official Symbol
RPE65provided by HGNC
Official Full Name
RPE65, retinoid isomerohydrolaseprovided by HGNC
Primary source
HGNC:HGNC:10294
See related
Ensembl:ENSG00000116745 MIM:180069; Vega:OTTHUMG00000009208
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
See RPE65 in Genome Data Viewer
Location:
1p31.3
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (68428822..68450322, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (68894507..68915642, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378782 Neighboring gene elongin C pseudogene 18 Neighboring gene DEP domain containing 1 Neighboring gene DEPDC1 antisense RNA 1 Neighboring gene thioredoxin pseudogene 2

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity ISS
Inferred from Sequence or Structural Similarity
more info
 
all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity TAS
Traceable Author Statement
more info
 
cardiolipin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
isomerase activity IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IEA
Inferred from Electronic Annotation
more info
 
phosphatidylcholine binding ISS
Inferred from Sequence or Structural Similarity
more info
 
phosphatidylserine binding ISS
Inferred from Sequence or Structural Similarity
more info
 
retinal isomerase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
retinal isomerase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
cellular response to electrical stimulus IEA
Inferred from Electronic Annotation
more info
 
circadian rhythm IEA
Inferred from Electronic Annotation
more info
 
detection of light stimulus involved in visual perception IMP
Inferred from Mutant Phenotype
more info
PubMed 
insulin receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
neural retina development IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
regulation of rhodopsin gene expression IEA
Inferred from Electronic Annotation
more info
 
retina homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
retina morphogenesis in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
retinal metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
retinal metabolic process IEA
Inferred from Electronic Annotation
more info
 
retinoid metabolic process TAS
Traceable Author Statement
more info
 
retinol metabolic process IEA
Inferred from Electronic Annotation
more info
 
visual perception TAS
Traceable Author Statement
more info
PubMed 
vitamin A metabolic process TAS
Traceable Author Statement
more info
PubMed 
zeaxanthin biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
zeaxanthin biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cell body IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
organelle membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
retinoid isomerohydrolase
Names
BCO family, member 3
RBP-binding membrane protein
all-trans-retinyl-palmitate hydrolase
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
XP_016857516.1

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_008472.1 RefSeqGene

    Range
    5001..26136
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000329.2NP_000320.1  retinoid isomerohydrolase

    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
    Q16518
    Related
    ENSP00000262340.5, OTTHUMP00000010788, ENST00000262340.5, OTTHUMT00000025509
    Conserved Domains (1) summary
    pfam03055
    Location:30530
    RPE65; Retinal pigment epithelial membrane protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    68428822..68450322 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017002027.1XP_016857516.1  retinoid isomerohydrolase isoform X1

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