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    Rlbp1 retinaldehyde binding protein 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 293049, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Rlbp1provided by RGD
    Official Full Name
    retinaldehyde binding protein 1provided by RGD
    Primary source
    RGD:1309649
    See related
    EnsemblRapid:ENSRNOG00000016897 AllianceGenome:RGD:1309649
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable 11-cis retinal binding activity and phosphatidylinositol bisphosphate binding activity. Located in cell body. Human ortholog(s) of this gene implicated in Bothnia retinal dystrophy; Newfoundland cone-rod dystrophy; fundus albipunctatus; night blindness; and retinitis pigmentosa. Orthologous to human RLBP1 (retinaldehyde binding protein 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward (RPKM 83.0) See more
    Orthologs
    human mouse all
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    Genomic context

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    See Rlbp1 in Genome Data Viewer
    Location:
    1q31
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 1 NC_086019.1 (142718262..142731621, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 1 NC_051336.1 (133308920..133322296, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 1 NC_005100.4 (141097789..141111375, complement)

    Chromosome 1 - NC_086019.1Genomic Context describing neighboring genes Neighboring gene U2 spliceosomal RNA Neighboring gene abhydrolase domain containing 2, acylglycerol lipase Neighboring gene uncharacterized LOC134483740 Neighboring gene FA complementation group I Neighboring gene transfer RNA arginine (anticodon UCG) 1 Neighboring gene DNA polymerase gamma, catalytic subunit

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. The biochemical and structural basis for trans-to-cis isomerization of retinoids in the chemistry of vision. von Lintig J, et al. Trends Biochem Sci, 2010 Jul. PMID 20188572, Free PMC Article
    2. Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. Katsanis N, et al. Clin Genet, 2001 Jun. PMID 11453974
    3. Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene. Burstedt MS, et al. Arch Ophthalmol, 2001 Feb. PMID 11176989
    4. Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. Maw MA, et al. Nat Genet, 1997 Oct. PMID 9326942
    5. Localizations of visual cycle components in retinal pigment epithelium. Huang J, et al. Mol Vis, 2009. PMID 19180257, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables 11-cis retinal binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatidylinositol bisphosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    located_in cell body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    retinaldehyde-binding protein 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.

    mRNA and Protein(s)

    1. NM_001106274.2 → NP_001099744.1  retinaldehyde-binding protein 1

      See identical proteins and their annotated locations for NP_001099744.1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000001
      UniProtKB/TrEMBL
      A6JC48, D3Z956
      Related
      ENSRNOP00000022962.5, ENSRNOT00000022962.8
      Conserved Domains (2) summary
      smart01100
      Location:60 → 117
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
      pfam00650
      Location:143 → 292
      CRAL_TRIO; CRAL/TRIO domain

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086019.1 Reference GRCr8

      Range
      142718262..142731621 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039105632.2 → XP_038961560.1  retinaldehyde-binding protein 1 isoform X1

      Conserved Domains (1) summary
      pfam00650
      Location:11 → 160
      CRAL_TRIO; CRAL/TRIO domain
    Nucleotide Protein Strain
    Heading Accession and Version

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