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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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