Thiamine transporter 2

SLC19A3
Identifiers
Aliases	SLC19A3, BBGD, THMD2, THTR2, solute carrier family 19 member 3, thTr-2
External IDs	OMIM: 606152; MGI: 1931307; HomoloGene: 23530; GeneCards: SLC19A3; OMA:SLC19A3 - orthologs
Gene location (Human) Chr. Chromosome 2 (human) Band 2q36.3 Start 227,683,763 bp End 227,718,028 bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1 C5|1 42.65 cM Start 82,990,244 bp End 83,016,169 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in subcutaneous adipose tissue abdominal fat placenta right lung right lobe of liver jejunal mucosa gallbladder duodenum epithelium of colon testicle Top expressed in duodenum right kidney proximal tubule morula lumbar subsegment of spinal cord human kidney epithelium of lens embryo embryo visual cortex More reference expression data BioGPS n/a
Gene ontology Molecular function thiamine transmembrane transporter activity vitamin transmembrane transporter activity Cellular component integral component of membrane plasma membrane membrane Biological process thiamine-containing compound metabolic process thiamine transport thiamine transmembrane transport vitamin transport transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 80704 80721 Ensembl ENSG00000135917 ENSMUSG00000038496 UniProt Q9BZV2 Q99PL8 RefSeq (mRNA) NM_025243 NM_001371411 NM_001371412 NM_001371413 NM_001371414 NM_030556 RefSeq (protein) NP_079519 NP_001358340 NP_001358341 NP_001358342 NP_001358343 NP_085033 Location (UCSC) Chr 2: 227.68 – 227.72 Mb Chr 1: 82.99 – 83.02 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Thiamine transporter 2 (ThTr-2), also known as solute carrier family 19 member 3, is a protein that in humans is encoded by the SLC19A3 gene. SLC19A3 is a thiamine transporter.

Function

ThTr-2 is a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity.

It is specifically inhibited by chloroquine.

Clinical significance

Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild mental retardation, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy.

Further reading

• Subramanian VS, Marchant JS, Said HM (2006). "Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2". Am. J. Physiol., Cell Physiol. 291 (5): C851-9. doi:10.1152/ajpcell.00105.2006. PMID 16790503. S2CID 44058.
• Subramanian VS, Mohammed ZM, Molina A, et al. (2007). "Vitamin B1 (thiamine) uptake by human retinal pigment epithelial (ARPE-19) cells: mechanism and regulation". J. Physiol. 582 (Pt 1): 73–85. doi:10.1113/jphysiol.2007.128843. PMC 2075275. PMID 17463047.
• Vlasova TI, Stratton SL, Wells AM, et al. (2005). "Biotin deficiency reduces expression of SLC19A3, a potential biotin transporter, in leukocytes from human blood". J. Nutr. 135 (1): 42–7. doi:10.1093/jn/135.1.42. PMC 1307527. PMID 15623830.
• Nabokina SM, Said HM (2004). "Characterization of the 5'-regulatory region of the human thiamin transporter SLC19A3: in vitro and in vivo studies". Am. J. Physiol. Gastrointest. Liver Physiol. 287 (4): G822-9. doi:10.1152/ajpgi.00234.2004. PMID 15217784. S2CID 22973189.
• Liu S, Stromberg A, Tai HH, Moscow JA (2004). "Thiamine transporter gene expression and exogenous thiamine modulate the expression of genes involved in drug and prostaglandin metabolism in breast cancer cells". Mol. Cancer Res. 2 (8): 477–87. doi:10.1158/1541-7786.477.2.8. PMID 15328374. S2CID 2963046.
• Ganapathy V, Smith SB, Prasad PD (2004). "SLC19: the folate/thiamine transporter family". Pflügers Arch. 447 (5): 641–6. doi:10.1007/s00424-003-1068-1. PMID 14770311. S2CID 7410075.
• Ashokkumar B, Vaziri ND, Said HM (2006). "Thiamin uptake by the human-derived renal epithelial (HEK-293) cells: cellular and molecular mechanisms". Am. J. Physiol. Renal Physiol. 291 (4): F796-805. doi:10.1152/ajprenal.00078.2006. PMID 16705148.
• Nabokina SM, Reidling JC, Said HM (2005). "Differentiation-dependent up-regulation of intestinal thiamin uptake: cellular and molecular mechanisms". J. Biol. Chem. 280 (38): 32676–82. doi:10.1074/jbc.M505243200. PMID 16055442.
• Rajgopal A, Edmondnson A, Goldman ID, Zhao R (2001). "SLC19A3 encodes a second thiamine transporter ThTr2". Biochim. Biophys. Acta. 1537 (3): 175–8. doi:10.1016/s0925-4439(01)00073-4. PMID 11731220.
• Liu X, Lam EK, Wang X, et al. (2009). "Promoter hypermethylation mediates downregulation of thiamine receptor SLC19A3 in gastric cancer". Tumour Biol. 30 (5–6): 242–8. doi:10.1159/000243767. PMID 19816091. S2CID 33408137.
• Haas RH (1988). "Thiamin and the brain". Annu. Rev. Nutr. 8: 483–515. doi:10.1146/annurev.nu.08.070188.002411. PMID 3060175.
• Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724–31. Bibcode:2005Natur.434..724H. doi:10.1038/nature03466. PMID 15815621.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Subramanian VS, Marchant JS, Said HM (2006). "Targeting and trafficking of the human thiamine transporter-2 in epithelial cells". J. Biol. Chem. 281 (8): 5233–45. doi:10.1074/jbc.M512765200. PMID 16371350.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Mee L, Nabokina SM, Sekar VT, et al. (2009). "Pancreatic beta cells and islets take up thiamin by a regulated carrier-mediated process: studies using mice and human pancreatic preparations". Am. J. Physiol. Gastrointest. Liver Physiol. 297 (1): G197-206. doi:10.1152/ajpgi.00092.2009. PMC 2711754. PMID 19423748.
• Liu S, Huang H, Lu X, et al. (2003). "Down-regulation of thiamine transporter THTR2 gene expression in breast cancer and its association with resistance to apoptosis". Mol. Cancer Res. 1 (9): 665–73. PMID 12861052.

External links

• SLC19A3 protein, human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.