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

Gene ID: 69698, updated on 18-Sep-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
Predicted to enable riboflavin transmembrane transporter activity. Acts upstream of or within cellular response to heat. Predicted to be located in cytoplasm; nucleus; and plasma membrane. Predicted to be integral component of plasma membrane. Is expressed in several structures, including extraembryonic component; genitourinary system; gut; and inner ear vestibular component. 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, Apr 2022]
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 (24) 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_001164819.1 → NP_001158291.1  solute carrier family 52, riboflavin transporter, member 3 isoform 1 precursor

    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)
    AK029091, AK047618, CF424499
    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_001164820.1 → NP_001158292.1  solute carrier family 52, riboflavin transporter, member 3 isoform 2

    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)
    AK029091, AK047618, CF424499
    Consensus CDS
    CCDS50749.1
    UniProtKB/Swiss-Prot
    Q9D6X5
    Related
    ENSMUSP00000105484.2, ENSMUST00000109858.2

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

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) and variant 2 encode the same protein (isoform 1).
    Source sequence(s)
    AK029091, CF424499, CJ066913
    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

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