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    Slc52a3 solute carrier protein family 52, member 3 [ Mus musculus (house mouse) ]

    Gene ID: 69698, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Slc52a3provided by MGI
    Official Full Name
    solute carrier protein family 52, member 3provided by MGI
    Primary source
    MGI:MGI:1916948
    See related
    Ensembl:ENSMUSG00000027463 AllianceGenome:MGI:1916948
    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
    RFT2; 2310046K01Rik
    Summary
    Enables riboflavin transmembrane transporter activity. Involved in flavin adenine dinucleotide biosynthetic process and riboflavin metabolic process. Acts upstream of or within cellular response to heat. Is active in plasma membrane. Is expressed in several structures, including central nervous system; genitourinary system; gut; inner ear vestibular component; and liver. Human ortholog(s) of this gene implicated in Brown-Vialetto-Van Laere syndrome 1 and Fazio-Londe disease. Orthologous to human SLC52A3 (solute carrier family 52 member 3). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in small intestine adult (RPKM 57.0), large intestine adult (RPKM 55.9) and 12 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Slc52a3 in Genome Data Viewer
    Location:
    2 G3; 2 74.83 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (151838431..151851178)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (151996511..152009258)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene microRNA 1953 Neighboring gene STARR-seq mESC enhancer starr_06034 Neighboring gene family with sequence similarity 110, member A Neighboring gene STARR-positive B cell enhancer ABC_E6000 Neighboring gene STARR-seq mESC enhancer starr_06039 Neighboring gene STARR-positive B cell enhancer ABC_E11171 Neighboring gene STARR-seq mESC enhancer starr_06041 Neighboring gene expressed sequence AA387200 Neighboring gene STARR-seq mESC enhancer starr_06043 Neighboring gene scratch family zinc finger 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. Conditional (intestinal-specific) knockout of the riboflavin transporter-3 (RFVT-3) impairs riboflavin absorption. Subramanian VS, et al. Am J Physiol Gastrointest Liver Physiol, 2016 Feb 15. PMID 26660539, Free PMC Article
    2. Disruption of Slc52a3 gene causes neonatal lethality with riboflavin deficiency in mice. Yoshimatsu H, et al. Sci Rep, 2016 Jun 8. PMID 27272163, Free PMC Article
    3. SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation. Intoh A, et al. Hum Mol Genet, 2016 May 1. PMID 26976849, Free PMC Article
    4. Effect of riboflavin deficiency on development of the cerebral cortex in Slc52a3 knockout mice. Jin C, et al. Sci Rep, 2020 Oct 28. PMID 33116204, Free PMC Article
    5. Analysis of HSF4 binding regions reveals its necessity for gene regulation during development and heat shock response in mouse lenses. Fujimoto M, et al. J Biol Chem, 2008 Oct 31. PMID 18755693, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Effect of riboflavin deficiency on development of the cerebral cortex in Slc52a3 knockout mice.
      Title: Effect of riboflavin deficiency on development of the cerebral cortex in Slc52a3 knockout mice.
    2. our knowledge, this is the first report to indicate that Rfvt3 contributes to placental riboflavin transport, and that disruption of Slc52a3 gene caused neonatal mortality with hyperlipidemia and hypoglycemia owing to riboflavin deficiency.
      Title: Disruption of Slc52a3 gene causes neonatal lethality with riboflavin deficiency in mice.
    3. Loss of Slc52a3 gene is associated with Brown-Vialetto-van Laere syndrome.
      Title: SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation.
    4. the RFVT-3 system is the main transporter involved in carrier-mediated riboflavin uptake in the native mouse small and large intestine
      Title: Conditional (intestinal-specific) knockout of the riboflavin transporter-3 (RFVT-3) impairs riboflavin absorption.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (4)  1 citation

    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 riboflavin transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables riboflavin transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables riboflavin transmembrane transporter activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables riboflavin transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within cellular response to heat IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in flavin adenine dinucleotide biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in riboflavin metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in riboflavin transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in riboflavin transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in riboflavin transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in sensory perception of sound ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in sensory perception of sound ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    solute carrier family 52, riboflavin transporter, member 3
    Names
    riboflavin transporter 2

    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_001164819.2 → NP_001158291.1  solute carrier family 52, riboflavin transporter, member 3 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001158291.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate 5' UTR exon and encodes the same isoform, as compared to variant 1.
      Source sequence(s)
      AL845161
      Consensus CDS
      CCDS16876.1
      UniProtKB/Swiss-Prot
      A2AQU3, Q3TDJ6, Q3U328, Q8CE36, Q91WB9, Q9D6X5
      Related
      ENSMUSP00000105487.2, ENSMUST00000109861.8
      Conserved Domains (1) summary
      pfam06237
      Location:289 → 386
      DUF1011; Protein of unknown function (DUF1011)

    2. NM_001164820.2 → NP_001158292.1  solute carrier family 52, riboflavin transporter, member 3 isoform 2

      See identical proteins and their annotated locations for NP_001158292.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has an alternate 5' UTR exon and lacks an internal coding exon, as compared to variant 1. The reading frame is affected, and the resulting isoform (2) is shorter and has a distinct C-terminus, as compared to isoform 1.
      Source sequence(s)
      AL845161
      Consensus CDS
      CCDS50749.1
      UniProtKB/Swiss-Prot
      Q9D6X5
      Related
      ENSMUSP00000105484.2, ENSMUST00000109858.2

    3. NM_001434075.1 → NP_001421004.1  solute carrier family 52, riboflavin transporter, member 3 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL845161

    4. NM_027172.4 → NP_081448.2  solute carrier family 52, riboflavin transporter, member 3 isoform 1 precursor

      See identical proteins and their annotated locations for NP_081448.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) and variant 2 encode the same protein (isoform 1).
      Source sequence(s)
      AL845161
      Consensus CDS
      CCDS16876.1
      UniProtKB/Swiss-Prot
      A2AQU3, Q3TDJ6, Q3U328, Q8CE36, Q91WB9, Q9D6X5
      Related
      ENSMUSP00000072961.6, ENSMUST00000073228.12
      Conserved Domains (1) summary
      pfam06237
      Location:289 → 386
      DUF1011; Protein of unknown function (DUF1011)

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      151838431..151851178
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D6X5.3 GenPept UniProtKB/Swiss-Prot:Q9D6X5

    Gene LinkOut

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

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