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    Rpe65 retinal pigment epithelium 65 [ Mus musculus (house mouse) ]

    Gene ID: 19892, updated on 9-Dec-2024

    Summary

    Official Symbol
    Rpe65provided by MGI
    Official Full Name
    retinal pigment epithelium 65provided by MGI
    Primary source
    MGI:MGI:98001
    See related
    Ensembl:ENSMUSG00000028174 AllianceGenome:MGI:98001
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    LCA2; RP20; rd12; 65kDa; Mord1; A930029L06Rik
    Summary
    Predicted to enable several functions, including beta-carotene 15,15'-dioxygenase activity; carboxylic ester hydrolase activity; and phospholipid binding activity. Predicted to be involved in several processes, including detection of light stimulus involved in visual perception; retina homeostasis; and terpenoid metabolic process. Located in cytoplasm; nucleus; and plasma membrane. Is expressed in eye and urinary system. Used to study Leber congenital amaurosis 2 and retinitis pigmentosa 20. 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, Dec 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Rpe65 in Genome Data Viewer
    Location:
    3 H4; 3 82.52 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (159304712..159330944)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (159599075..159625307)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer mm9_chr3:159158158-159158459 Neighboring gene predicted gene 9424 Neighboring gene DEP domain containing 1a Neighboring gene STARR-seq mESC enhancer starr_09398 Neighboring gene CapStarr-seq enhancer MGSCv37_chr3:159503248-159503357 Neighboring gene wntless WNT ligand secretion mediator Neighboring gene succinate dehydrogenase complex, subunit B, iron sulfur (Ip) pseudogene Neighboring gene calponin 2 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    General gene information

    Markers

    Gene Ontology Provided by MGI

    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 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 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 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in detection of light stimulus involved in visual perception ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in neural retina development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neural retina development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in retina homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retinal metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in retinoid metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in retinoid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in retinol metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retinol metabolic process ISO
    Inferred from Sequence Orthology
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    retinoid isomerohydrolase
    Names
    all-trans-retinyl-palmitate hydrolase
    lutein isomerase
    meso-zeaxanthin isomerase
    modifier of retinal degeneration 1
    retinal pigment epithelium, 65 kDa
    retinal pigment epithelium-specific 65 kDa protein
    retinol isomerase
    NP_084263.2
    XP_006501228.1

    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.

    mRNA and Protein(s)

    1. NM_029987.2NP_084263.2  retinoid isomerohydrolase

      See identical proteins and their annotated locations for NP_084263.2

      Status: VALIDATED

      Source sequence(s)
      BC090656, CJ133618
      Consensus CDS
      CCDS38683.1
      UniProtKB/Swiss-Prot
      A1L3D1, E9QNS6, H9KUX9, Q8VHP2, Q91ZQ5
      Related
      ENSMUSP00000143654.2, ENSMUST00000196999.5
      Conserved Domains (1) summary
      pfam03055
      Location:21530
      RPE65; Retinal pigment epithelial membrane protein

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000069.7 Reference GRCm39 C57BL/6J

      Range
      159304712..159330944
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006501165.2XP_006501228.1  retinoid isomerohydrolase isoform X1

      See identical proteins and their annotated locations for XP_006501228.1

      Conserved Domains (1) summary
      pfam03055
      Location:21531
      RPE65; Retinal pigment epithelial membrane protein

    RNA

    1. XR_001783668.1 RNA Sequence