U.S. flag

An official website of the United States government

Links from GEO Profiles

    • Showing Current items.

    RPE65 retinoid isomerohydrolase RPE65 [ Homo sapiens (human) ]

    Gene ID: 6121, updated on 2-Nov-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RPE65 in Genome Data Viewer
    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_000001.11Genomic 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity  
    enables all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity  
    enables all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity PubMed 
    enables all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity  
    enables beta-carotene 15,15'-dioxygenase activity  
    enables cardiolipin binding  
    enables isomerase activity PubMed 
    enables metal ion binding  
    enables phosphatidylcholine binding  
    enables phosphatidylserine binding  
    enables protein binding PubMed 
    enables retinol isomerase activity  
    Component Evidence Code Pubs
    located_in cell body  
    located_in endoplasmic reticulum membrane PubMed 
    located_in membrane  
    located_in nucleus  
    located_in plasma membrane  

    General protein information

    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)

    NEW Try the new Transcript table

    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_000329.3NP_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:20530
      RPE65; Retinal pigment epithelial membrane protein
    2. NM_001406853.1NP_001393782.1  retinoid isomerohydrolase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL139413
    3. NM_001406856.1NP_001393785.1  retinoid isomerohydrolase isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL139413
    4. NM_001406857.1NP_001393786.1  retinoid isomerohydrolase isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL139413
    5. NM_001406859.1NP_001393788.1  retinoid isomerohydrolase isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL139413, KF454958
      Related
      ENSP00000519234.1, ENST00000713937.1
    6. NM_001406860.1NP_001393789.1  retinoid isomerohydrolase isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL139413

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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)
    External link. Please review our privacy policy.