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    Rtbdn retbindin [ Mus musculus (house mouse) ]

    Gene ID: 234542, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Rtbdnprovided by MGI
    Official Full Name
    retbindinprovided by MGI
    Primary source
    MGI:MGI:2443686
    See related
    Ensembl:ENSMUSG00000048617 AllianceGenome:MGI:2443686
    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
    Rtbnd; A330096I21Rik
    Summary
    Enables riboflavin binding activity. Located in external side of plasma membrane and interphotoreceptor matrix. Is expressed in central nervous system; liver; metanephros; and retina nuclear layer. Orthologous to human RTBDN (retbindin). [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in CNS E18 (RPKM 2.5), CNS E14 (RPKM 1.8) and 9 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Rtbdn in Genome Data Viewer
    Location:
    8 C3; 8 41.37 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (85672880..85683235)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (84946991..84956606)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene deoxyribonuclease II alpha Neighboring gene predicted gene, 38426 Neighboring gene microtubule associated serine/threonine kinase 1 Neighboring gene STARR-positive B cell enhancer ABC_E6668 Neighboring gene ribonuclease H2, large subunit Neighboring gene STARR-positive B cell enhancer ABC_E2269 Neighboring gene peroxiredoxin 2

    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 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. Retbindin mediates light-damage in mouse retina while its absence leads to premature retinal aging. Fan J, et al. Exp Eye Res, 2021 Aug. PMID 34228964, Free PMC Article
    2. Elimination of a Retinal Riboflavin Binding Protein Exacerbates Degeneration in a Model of Cone-Rod Dystrophy. Genc AM, et al. Invest Ophthalmol Vis Sci, 2020 Jun 3. PMID 32516403, Free PMC Article
    3. Ablation of the riboflavin-binding protein retbindin reduces flavin levels and leads to progressive and dose-dependent degeneration of rods and cones. Kelley RA, et al. J Biol Chem, 2017 Dec 22. PMID 29079576, Free PMC Article
    4. The Potential Role of Flavins and Retbindin in Retinal Function and Homeostasis. Kelley RA, et al. Adv Exp Med Biol, 2016. PMID 26427470
    5. Absence of retbindin blocks glycolytic flux, disrupts metabolic homeostasis, and leads to photoreceptor degeneration. Sinha T, et al. Proc Natl Acad Sci U S A, 2021 Feb 9. PMID 33526685, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Retbindin mediates light-damage in mouse retina while its absence leads to premature retinal aging.
      Title: Retbindin mediates light-damage in mouse retina while its absence leads to premature retinal aging.
    2. Absence of retbindin blocks glycolytic flux, disrupts metabolic homeostasis, and leads to photoreceptor degeneration.
      Title: Absence of retbindin blocks glycolytic flux, disrupts metabolic homeostasis, and leads to photoreceptor degeneration.
    3. Retbindin ablation causes a retinal phenotype characterized by time- and dose-dependent declines in rod and cone photoreceptor functions as early as 120 days of age. Whereas minor retinal ultrastructural defects were observed at all ages examined, a significant decline occurred in photoreceptor nuclei at 240 days of age ( approximately 36.8% rods and approximately 19.9% cones).
      Title: Ablation of the riboflavin-binding protein retbindin reduces flavin levels and leads to progressive and dose-dependent degeneration of rods and cones.
    4. Data suggest Retbindin as a possible flavin binding protein in the neural retina.
      Title: The Potential Role of Flavins and Retbindin in Retinal Function and Homeostasis.
    5. retbindin is an excellent candidate for binding retinal flavins and possibly participating in their transport from the extracellular space to the photoreceptors.
      Title: Retbindin is an extracellular riboflavin-binding protein found at the photoreceptor/retinal pigment epithelium interface.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (2)  1 citation

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC31644, MGC38683, MGC38855

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables riboflavin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables riboflavin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables riboflavin transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables signaling receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in interphotoreceptor matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    retbindin

    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_001357326.1 → NP_001344255.1  retbindin precursor

      Status: VALIDATED

      Source sequence(s)
      AY527276, CD742502
      Consensus CDS
      CCDS22485.1
      UniProtKB/Swiss-Prot
      Q6T898, Q8QZY4
      Related
      ENSMUSP00000105362.3, ENSMUST00000109740.9
      Conserved Domains (1) summary
      pfam03024
      Location:83 → 203
      Folate_rec; Folate receptor family

    2. NM_001357328.1 → NP_001344257.1  retbindin precursor

      Status: VALIDATED

      Source sequence(s)
      AC161765, AC163703
      Consensus CDS
      CCDS22485.1
      UniProtKB/Swiss-Prot
      Q6T898, Q8QZY4
      Conserved Domains (1) summary
      pfam03024
      Location:83 → 203
      Folate_rec; Folate receptor family

    3. NM_144929.3 → NP_659178.1  retbindin precursor

      See identical proteins and their annotated locations for NP_659178.1

      Status: VALIDATED

      Source sequence(s)
      AY527275, CD742502
      Consensus CDS
      CCDS22485.1
      UniProtKB/Swiss-Prot
      Q6T898, Q8QZY4
      Related
      ENSMUSP00000070558.8, ENSMUST00000067472.14
      Conserved Domains (1) summary
      pfam03024
      Location:83 → 203
      Folate_rec; Folate receptor family

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      85672880..85683235
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036153960.1 → XP_036009853.1  retbindin isoform X1

      UniProtKB/Swiss-Prot
      Q6T898, Q8QZY4
      Related
      ENSMUSP00000113982.2, ENSMUST00000121880.8
      Conserved Domains (1) summary
      pfam03024
      Location:83 → 203
      Folate_rec; Folate receptor family
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8QZY4.1 GenPept UniProtKB/Swiss-Prot:Q8QZY4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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