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    Rlbp1 retinaldehyde binding protein 1 [ Mus musculus (house mouse) ]

    Gene ID: 19771, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Rlbp1provided by MGI
    Official Full Name
    retinaldehyde binding protein 1provided by MGI
    Primary source
    MGI:MGI:97930
    See related
    Ensembl:ENSMUSG00000039194 AllianceGenome:MGI:97930
    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
    CRALBP; 3110056M11Rik
    Summary
    Enables 11-cis retinal binding activity. Predicted to be involved in visual perception. Predicted to be located in several cellular components, including cell body; centrosome; and nucleoplasm. Is expressed in several structures, including brain; eye; foregut; spinal cord ventricular layer; and viscerocranium. Used to study Bothnia retinal dystrophy. 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, Apr 2022]
    Expression
    Biased expression in CNS E18 (RPKM 11.5), CNS E14 (RPKM 9.4) and 5 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    7 D2; 7 45.0 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (79024613..79041989, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (79374865..79392250, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene abhydrolase domain containing 2 Neighboring gene predicted gene, 39041 Neighboring gene predicted gene, 24224 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:86508405-86508675 Neighboring gene STARR-positive B cell enhancer ABC_E9694 Neighboring gene STARR-seq mESC enhancer starr_19276 Neighboring gene predicted gene, 31653 Neighboring gene Fanconi anemia, complementation group I Neighboring gene protein transport protein Sec61 subunit gamma pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Nonclinical Safety Evaluation of scAAV8-RLBP1 for Treatment of RLBP1 Retinitis Pigmentosa. MacLachlan TK, et al. Mol Ther Methods Clin Dev, 2018 Mar 16. PMID 29359172, Free PMC Article
    2. AAV-mediated RLBP1 gene therapy improves the rate of dark adaptation in Rlbp1 knockout mice. Choi VW, et al. Mol Ther Methods Clin Dev, 2015. PMID 26199951, Free PMC Article
    3. Beta-secretase activity increases with aging in human, monkey, and mouse brain. Fukumoto H, et al. Am J Pathol, 2004 Feb. PMID 14742275, Free PMC Article
    4. Visual cycle impairment in cellular retinaldehyde binding protein (CRALBP) knockout mice results in delayed dark adaptation. Saari JC, et al. Neuron, 2001 Mar. PMID 11301032
    5. Molecular characterization of the mouse gene encoding cellular retinaldehyde-binding protein. Kennedy BN, et al. Mol Vis, 1998 Sep 4. PMID 9736766

    See all (72) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The downregulation of HSP90-controlled CRALBP expression is associated with age-related vision attenuation.
      Title: The downregulation of HSP90-controlled CRALBP expression is associated with age-related vision attenuation.
    2. Effects of deficiency in the RLBP1-encoded visual cycle protein CRALBP on visual dysfunction in humans and mice.
      Title: Effects of deficiency in the RLBP1-encoded visual cycle protein CRALBP on visual dysfunction in humans and mice.
    3. results identify Muller cell CRALBP as a key component of the retinal visual cycle and demonstrate that this pathway is important for maintaining normal cone-driven vision and accelerating cone dark adaptation.
      Title: CRALBP supports the mammalian retinal visual cycle and cone vision.
    4. CRALBP is a direct downstream target of Pax6.
      Title: Cellular retinaldehyde-binding protein (CRALBP) is a direct downstream target of transcription factor Pax6.
    5. Regulatory elements in a restricted region of the Rlbp1 gene are sufficient to drive GFP expression in vivo.
      Title: Rlbp1 promoter drives robust Müller glial GFP expression in transgenic mice.
    6. Potential role for Rlbp1 and Syntaxin 12 in ethanol preference in mice, a conclusion supported by the location of these genes in quantitative trait loci (QTL).
      Title: Genetic segregation of brain gene expression identifies retinaldehyde binding protein 1 and syntaxin 12 as potential contributors to ethanol preference in mice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (7)  1 citation
    • Endonuclease-mediated (4) 

    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 MGI

    Function Evidence Code Pubs
    enables 11-cis retinal binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylinositol bisphosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables retinol binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within response to stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within visual perception IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cell body ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    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
    Names
    cellular retinaldehyde-binding protein

    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_001173483.1 → NP_001166954.1  retinaldehyde-binding protein 1

      See identical proteins and their annotated locations for NP_001166954.1

      Status: VALIDATED

      Source sequence(s)
      AK140622, CO040983
      Consensus CDS
      CCDS39990.1
      UniProtKB/Swiss-Prot
      Q9Z275
      UniProtKB/TrEMBL
      A0A0U1RQ07, Q544Y3
      Related
      ENSMUSP00000137143.2, ENSMUST00000179243.3
      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

    2. NM_001357450.1 → NP_001344379.1  retinaldehyde-binding protein 1

      Status: VALIDATED

      Source sequence(s)
      AC160464
      Consensus CDS
      CCDS39990.1
      UniProtKB/Swiss-Prot
      Q9Z275
      UniProtKB/TrEMBL
      A0A0U1RQ07, Q544Y3
      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

    3. NM_020599.2 → NP_065624.1  retinaldehyde-binding protein 1

      See identical proteins and their annotated locations for NP_065624.1

      Status: VALIDATED

      Source sequence(s)
      AK014227, AK140622
      Consensus CDS
      CCDS39990.1
      UniProtKB/Swiss-Prot
      Q9Z275
      UniProtKB/TrEMBL
      A0A0U1RQ07, Q544Y3
      Related
      ENSMUSP00000054545.9, ENSMUST00000053718.15
      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_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_000073.7 Reference GRCm39 C57BL/6J

      Range
      79024613..79041989 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030242244.1 → XP_030098104.1  retinaldehyde-binding protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q9Z275
      UniProtKB/TrEMBL
      A0A0U1RQ07, Q544Y3
      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

    2. XM_030242246.2 → XP_030098106.1  retinaldehyde-binding protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A0U1RQ07
      Conserved Domains (2) summary
      smart01100
      Location:60 → 117
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
      pfam00650
      Location:143 → 277
      CRAL_TRIO; CRAL/TRIO domain

    3. XM_011250827.2 → XP_011249129.1  retinaldehyde-binding protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A0U1RQ07
      Conserved Domains (2) summary
      smart01100
      Location:60 → 117
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
      pfam00650
      Location:143 → 277
      CRAL_TRIO; CRAL/TRIO domain

    4. XM_006540717.3 → XP_006540780.1  retinaldehyde-binding protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006540780.1

      UniProtKB/Swiss-Prot
      Q9Z275
      UniProtKB/TrEMBL
      A0A0U1RQ07, Q544Y3
      Related
      ENSMUSP00000146196.2, ENSMUST00000206162.2
      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

    5. XM_036152809.1 → XP_036008702.1  retinaldehyde-binding protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q9Z275
      UniProtKB/TrEMBL
      A0A0U1RQ07, Q544Y3
      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
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Z275.3 GenPept UniProtKB/Swiss-Prot:Q9Z275

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