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Gene Review

SLC19A3  -  solute carrier family 19 (thiamine...

Homo sapiens

Synonyms: BBGD, Solute carrier family 19 member 3, THMD2, THTR2, ThTr-2, ...
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High impact information on SLC19A3


Biological context of SLC19A3

  • The human SLC19A3 gene is widely expressed, with the most abundant expression observed in placenta, kidney, and liver, and has been mapped to chromosome 2q37 [5].
  • In this paper we describe the function of SLC19A3, another member of this transporter family most recently cloned, after transient transfection of the cDNA into HeLa cells [6].
  • These studies demonstrate for the first time that differentiation of intestinal epithelial cells is associated with an up-regulation in thiamin uptake process and that this up-regulation appears to be mediated via transcriptional regulatory mechanisms that involve the SLC19A2 and SLC19A3 genes [3].
  • With the use of transiently transfected human intestinal epithelial Caco-2 cells and 5'-deletion analysis, the minimal promoter region required for basal activity of the SLC19A3 promoter was found to be encoded in a sequence between -77 and +59 by using the start of transcription initiation as position 1 [7].
  • Functionality of the full-length SLC19A3 promoter was confirmed in vivo in transgenic mice expressing the promoter-luciferase reporter gene [7].

Associations of SLC19A3 with chemical compounds

  • Identification and characterization of the human and mouse SLC19A3 gene: a novel member of the reduced folate family of micronutrient transporter genes [5].
  • Uptake of [3H]thiamine, but not of methotrexate nor folic acid, was enhanced in SLC19A3 transfectants relative to vector control [6].

Other interactions of SLC19A3

  • SLC19A3 encodes a second thiamine transporter ThTr2 [6].
  • These studies report the first characterization of the SLC19A3 promoter in vitro and in vivo and demonstrate the importance of an SP1 cis-regulatory element in regulating promoter activity of this important human gene [7].
  • In transiently transfected Drosophila SL2 cells, both SP1 and SP3 transactivated the SLC19A3 minimal promoter in a dose-dependent manner and in combination demonstrated an additive stimulatory effect [7].


  1. Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Zeng, W.Q., Al-Yamani, E., Acierno, J.S., Slaugenhaupt, S., Gillis, T., MacDonald, M.E., Ozand, P.T., Gusella, J.F. Am. J. Hum. Genet. (2005) [Pubmed]
  2. Targeting and trafficking of the human thiamine transporter-2 in epithelial cells. Subramanian, V.S., Marchant, J.S., Said, H.M. J. Biol. Chem. (2006) [Pubmed]
  3. Differentiation-dependent up-regulation of intestinal thiamin uptake: cellular and molecular mechanisms. Nabokina, S.M., Reidling, J.C., Said, H.M. J. Biol. Chem. (2005) [Pubmed]
  4. Biotin deficiency reduces expression of SLC19A3, a potential biotin transporter, in leukocytes from human blood. Vlasova, T.I., Stratton, S.L., Wells, A.M., Mock, N.I., Mock, D.M. J. Nutr. (2005) [Pubmed]
  5. Identification and characterization of the human and mouse SLC19A3 gene: a novel member of the reduced folate family of micronutrient transporter genes. Eudy, J.D., Spiegelstein, O., Barber, R.C., Wlodarczyk, B.J., Talbot, J., Finnell, R.H. Mol. Genet. Metab. (2000) [Pubmed]
  6. SLC19A3 encodes a second thiamine transporter ThTr2. Rajgopal, A., Edmondnson, A., Goldman, I.D., Zhao, R. Biochim. Biophys. Acta (2001) [Pubmed]
  7. Characterization of the 5'-regulatory region of the human thiamin transporter SLC19A3: in vitro and in vivo studies. Nabokina, S.M., Said, H.M. Am. J. Physiol. Gastrointest. Liver Physiol. (2004) [Pubmed]
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