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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.

Chemical Information
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