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Slc19a3 solute carrier family 19, member 3 [ Mus musculus (house mouse) ]

Gene ID: 80721, updated on 5-Mar-2024

Summary

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Official Symbol
Slc19a3provided by MGI
Official Full Name
solute carrier family 19, member 3provided by MGI
Primary source
MGI:MGI:1931307
See related
Ensembl:ENSMUSG00000038496 AllianceGenome:MGI:1931307
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
ThTr2; A230084E24Rik
Summary
Enables thiamine transmembrane transporter activity. Involved in thiamine transmembrane transport. Predicted to be integral component of plasma membrane. Predicted to be active in plasma membrane. Used to study biotin-responsive basal ganglia disease. Human ortholog(s) of this gene implicated in biotin-responsive basal ganglia disease. Orthologous to human SLC19A3 (solute carrier family 19 member 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in kidney adult (RPKM 6.0), duodenum adult (RPKM 1.7) and 10 other tissues See more
Orthologs
human all
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Genomic context

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See Slc19a3 in Genome Data Viewer
Location:
1 C5; 1 42.65 cM
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (82990242..83016541, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (83012523..83038820, complement)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer mm9_chr1:82835787-82836088 Neighboring gene ArfGAP with FG repeats 1 Neighboring gene STARR-seq mESC enhancer starr_01485 Neighboring gene STARR-seq mESC enhancer starr_01486 Neighboring gene STARR-seq mESC enhancer starr_01488 Neighboring gene STARR-seq mESC enhancer starr_01489 Neighboring gene potassium channel tetramerisation domain containing 3 pseudogene Neighboring gene STARR-seq mESC enhancer starr_01490 Neighboring gene nascent polypeptide-associated complex alpha polypeptide pseudogene Neighboring gene keratin associated protein 28-13 Neighboring gene STARR-seq mESC enhancer starr_01492 Neighboring gene C-C motif chemokine ligand 20

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. High-dose thiamine prevents brain lesions and prolongs survival of Slc19a3-deficient mice. Suzuki K, et al. PLoS One, 2017. PMID 28665968, Free PMC Article
  2. Relative contribution of THTR-1 and THTR-2 in thiamin uptake by pancreatic acinar cells: studies utilizing Slc19a2 and Slc19a3 knockout mouse models. Subramanian VS, et al. Am J Physiol Gastrointest Liver Physiol, 2012 Mar 1. PMID 22194418, Free PMC Article
  3. Developmental maturation of intestinal and renal thiamin uptake: studies in wild-type and transgenic mice carrying human THTR-1 and 2 promoters. Reidling JC, et al. J Cell Physiol, 2006 Feb. PMID 16206251
  4. SLC19: the folate/thiamine transporter family. Ganapathy V, et al. Pflugers Arch, 2004 Feb. PMID 14770311
  5. SLC19A3 encodes a second thiamine transporter ThTr2. Rajgopal A, et al. Biochim Biophys Acta, 2001 Nov 29. PMID 11731220

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identification of the amino acid residues involved in the species-dependent differences in the pyridoxine transport function of SLC19A3.
    Title: Identification of the amino acid residues involved in the species-dependent differences in the pyridoxine transport function of SLC19A3.
  2. Animal species differences in the pyridoxine transport function of SLC19A3: Absence of Slc19a3-mediated pyridoxine uptake in the rat small intestine.
    Title: Animal species differences in the pyridoxine transport function of SLC19A3: Absence of Slc19a3-mediated pyridoxine uptake in the rat small intestine.
  3. showed that acute neurodegeneration caused by thiamine deficiency is preventable in most parts, and prompt high-dose thiamine administration is critical for the treatment of THMD2. However, reduction of thiamine should be performed carefully to prevent recurrence after recovery of the disease
    Title: High-dose thiamine prevents brain lesions and prolongs survival of Slc19a3-deficient mice.
  4. both mTHTR-1 and mTHTR-2 are involved in carrier-mediated thiamin uptake by pancreatic acinar cells.
    Title: Relative contribution of THTR-1 and THTR-2 in thiamin uptake by pancreatic acinar cells: studies utilizing Slc19a2 and Slc19a3 knockout mouse models.
  5. THTR-2 is required for normal uptake of thiamin in the intestine and can fulfill normal levels of uptake in conditions associated with THTR-1 dysfunction.
    Title: Impaired intestinal vitamin B1 (thiamin) uptake in thiamin transporter-2-deficient mice.
  6. Pancreatic beta cells and islets take up thiamine by a regulated THTR1/2-mediated process.
    Title: Pancreatic beta cells and islets take up thiamin by a regulated carrier-mediated process: studies using mice and human pancreatic preparations.
  7. Intestinal and renal thiamin uptake are developmentally regulated during early stages of life, mediated through mTHTR-1 and mTHTR-2, and suggest the possible involvement of transcriptional regulatory mechanism(s) in this regulation.
    Title: Developmental maturation of intestinal and renal thiamin uptake: studies in wild-type and transgenic mice carrying human THTR-1 and 2 promoters.
Submit: New GeneRIF Correction

Variation

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Alleles

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

General gene information

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Markers

Homology

Clone Names

  • MGC129326, MGC129327

Gene Ontology Provided by MGI

Function Evidence Code Pubs
NOT enables folic acid transmembrane transporter activity ISO
Inferred from Sequence Orthology
more info
 PubMed 
enables thiamine transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables thiamine transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables thiamine transmembrane transporter activity ISO
Inferred from Sequence Orthology
more info
 PubMed 
enables vitamin transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
NOT acts_upstream_of_or_within folic acid transport ISO
Inferred from Sequence Orthology
more info
 PubMed 
involved_in pyridoxine transport ISO
Inferred from Sequence Orthology
more info
  
involved_in thiamine diphosphate biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in thiamine diphosphate biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in thiamine transmembrane transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in thiamine transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in thiamine transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within thiamine transport ISO
Inferred from Sequence Orthology
more info
 PubMed 
involved_in thiamine transport ISO
Inferred from Sequence Orthology
more info
  
involved_in transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in vitamin transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IC
Inferred by Curator
more info
 PubMed 
is_active_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 

General protein information

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Preferred Names
thiamine transporter 2
Names
solute carrier family 19 (sodium/hydrogen exchanger), member 3
thTr-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_030556.2 → NP_085033.2  thiamine transporter 2 precursor

    See identical proteins and their annotated locations for NP_085033.2

    Status: VALIDATED

    Source sequence(s)
    AC161180, BC109154
    Consensus CDS
    CCDS15101.1
    UniProtKB/Swiss-Prot
    Q32MF5, Q99PL8
    Related
    ENSMUSP00000041683.9, ENSMUST00000045560.15
    Conserved Domains (1) summary
    pfam01770
    Location:11 → 435
    Folate_carrier; Reduced folate carrier

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_000067.7 Reference GRCm39 C57BL/6J

    Range
    82990242..83016541 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011238716.4 → XP_011237018.1  thiamine transporter 2 isoform X1

    See identical proteins and their annotated locations for XP_011237018.1

    UniProtKB/Swiss-Prot
    Q32MF5, Q99PL8
    Conserved Domains (1) summary
    pfam01770
    Location:11 → 435
    Folate_carrier; Reduced folate carrier

  2. XM_036154439.1 → XP_036010332.1  thiamine transporter 2 isoform X1

    UniProtKB/Swiss-Prot
    Q32MF5, Q99PL8
    Conserved Domains (1) summary
    pfam01770
    Location:11 → 435
    Folate_carrier; Reduced folate carrier

  3. XM_036154448.1 → XP_036010341.1  thiamine transporter 2 isoform X1

    UniProtKB/Swiss-Prot
    Q32MF5, Q99PL8
    Conserved Domains (1) summary
    pfam01770
    Location:11 → 435
    Folate_carrier; Reduced folate carrier

  4. XM_006496579.5 → XP_006496642.1  thiamine transporter 2 isoform X1

    See identical proteins and their annotated locations for XP_006496642.1

    UniProtKB/Swiss-Prot
    Q32MF5, Q99PL8
    Related
    ENSMUSP00000126646.2, ENSMUST00000164473.2
    Conserved Domains (1) summary
    pfam01770
    Location:11 → 435
    Folate_carrier; Reduced folate carrier

  5. XM_036154441.1 → XP_036010334.1  thiamine transporter 2 isoform X1

    UniProtKB/Swiss-Prot
    Q32MF5, Q99PL8
    Conserved Domains (1) summary
    pfam01770
    Location:11 → 435
    Folate_carrier; Reduced folate carrier

  6. XM_011238715.4 → XP_011237017.1  thiamine transporter 2 isoform X1

    See identical proteins and their annotated locations for XP_011237017.1

    UniProtKB/Swiss-Prot
    Q32MF5, Q99PL8
    Conserved Domains (1) summary
    pfam01770
    Location:11 → 435
    Folate_carrier; Reduced folate carrier
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99PL8.2 GenPept UniProtKB/Swiss-Prot:Q99PL8

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