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{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
{{Infobox_gene}}
'''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]].<ref name="entrez">{{cite web | title = Entrez Gene: solute carrier family 19| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=80704| accessdate = }}</ref><ref name="pmid11136550">{{cite journal | author = Eudy JD, Spiegelstein O, Barber RC, Wlodarczyk BJ, Talbot J, Finnell RH | title = Identification and characterization of the human and mouse SLC19A3 gene: a novel member of the reduced folate family of micronutrient transporter genes | journal = Mol. Genet. Metab. | volume = 71 | issue = 4 | pages = 581–90 |date=December 2000 | pmid = 11136550 | doi = 10.1006/mgme.2000.3112 | url = | issn = }}</ref><ref name="pmid15871139">{{cite journal | author = Zeng WQ, Al-Yamani E, Acierno JS, Slaugenhaupt S, Gillis T, MacDonald ME, Ozand PT, Gusella JF | title = Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3 | journal = Am. J. Hum. Genet. | volume = 77 | issue = 1 | pages = 16–26 |date=July 2005 | pmid = 15871139 | pmc = 1226189 | doi = 10.1086/431216 | url = | issn = }}</ref> SLC19A3 is a [[thiamine]] transporter.
'''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]].<ref name="entrez">{{cite web | title = Entrez Gene: solute carrier family 19| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=80704}}</ref><ref name="pmid11136550">{{cite journal | vauthors = Eudy JD, Spiegelstein O, Barber RC, Wlodarczyk BJ, Talbot J, Finnell RH | title = Identification and characterization of the human and mouse SLC19A3 gene: a novel member of the reduced folate family of micronutrient transporter genes | journal = Mol. Genet. Metab. | volume = 71 | issue = 4 | pages = 581–90 |date=December 2000 | pmid = 11136550 | doi = 10.1006/mgme.2000.3112 }}</ref><ref name="pmid15871139">{{cite journal | vauthors = Zeng WQ, Al-Yamani E, Acierno JS, Slaugenhaupt S, Gillis T, MacDonald ME, Ozand PT, Gusella JF | title = Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3 | journal = Am. J. Hum. Genet. | volume = 77 | issue = 1 | pages = 16–26 |date=July 2005 | pmid = 15871139 | pmc = 1226189 | doi = 10.1086/431216 }}</ref> SLC19A3 is a [[thiamine]] transporter.


== Function ==
== Function ==
Line 6: Line 7:
ThTr-2 is a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity.<ref name="entrez"/>
ThTr-2 is a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity.<ref name="entrez"/>


It is specifically inhibited by [[chloroquine]].<ref name="pmid23209439">{{cite journal | author = Huang Z, Srinivasan S, Zhang J, Chen K, Li Y, Li W, Quiocho FA, Pan X | title = Discovering thiamine transporters as targets of chloroquine using a novel functional genomics strategy | journal = PLoS Genet. | volume = 8 | issue = 11 | pages = e1003083 | year = 2012 | pmid = 23209439 | pmc = 3510038 | doi = 10.1371/journal.pgen.1003083 }} {{open access}}</ref>
It is specifically inhibited by [[chloroquine]].<ref name="pmid23209439">{{cite journal | vauthors = Huang Z, Srinivasan S, Zhang J, Chen K, Li Y, Li W, Quiocho FA, Pan X | title = Discovering thiamine transporters as targets of chloroquine using a novel functional genomics strategy | journal = PLOS Genet. | volume = 8 | issue = 11 | pages = e1003083 | year = 2012 | pmid = 23209439 | pmc = 3510038 | doi = 10.1371/journal.pgen.1003083 | doi-access = free }} {{open access}}</ref>


== Clinical significance ==
== 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]], [[quadriplegia|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.<ref name="entrez"/>
Mutations in this gene cause [[biotin-responsive basal ganglia disease]] (BBGD); a recessive disorder manifested in childhood that progresses to chronic [[encephalopathy]], [[dystonia]], [[quadriplegia|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.<ref name="entrez"/>


==References==
==References==
Line 17: Line 18:
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
*{{cite journal |author=Subramanian VS, Marchant JS, Said HM |title=Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2. |journal=Am. J. Physiol., Cell Physiol. |volume=291 |issue= 5 |pages= C851-9 |year= 2006 |pmid= 16790503 |doi= 10.1152/ajpcell.00105.2006 }}
*{{cite journal |vauthors=Subramanian VS, Marchant JS, Said HM |title=Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2. |journal=Am. J. Physiol., Cell Physiol. |volume=291 |issue= 5 |pages= C851-9 |year= 2006 |pmid= 16790503 |doi= 10.1152/ajpcell.00105.2006 |s2cid=44058 }}
*{{cite journal |vauthors=Subramanian VS, Mohammed ZM, Molina A, etal |title=Vitamin B1 (thiamine) uptake by human retinal pigment epithelial (ARPE-19) cells: mechanism and regulation. |journal=J. Physiol. (Lond.) |volume=582 |issue= Pt 1 |pages= 73–85 |year= 2007 |pmid= 17463047 |doi= 10.1113/jphysiol.2007.128843 |pmc=2075275}}
*{{cite journal |vauthors=Subramanian VS, Mohammed ZM, Molina A, etal |title=Vitamin B1 (thiamine) uptake by human retinal pigment epithelial (ARPE-19) cells: mechanism and regulation. |journal=J. Physiol. |volume=582 |issue= Pt 1 |pages= 73–85 |year= 2007 |pmid= 17463047 |doi= 10.1113/jphysiol.2007.128843 |pmc=2075275}}
*{{cite journal |vauthors=Vlasova TI, Stratton SL, Wells AM, etal |title=Biotin deficiency reduces expression of SLC19A3, a potential biotin transporter, in leukocytes from human blood. |journal=J. Nutr. |volume=135 |issue= 1 |pages= 42–7 |year= 2005 |pmid= 15623830 |doi= |pmc=1307527}}
*{{cite journal |vauthors=Vlasova TI, Stratton SL, Wells AM, etal |title=Biotin deficiency reduces expression of SLC19A3, a potential biotin transporter, in leukocytes from human blood. |journal=J. Nutr. |volume=135 |issue= 1 |pages= 42–7 |year= 2005 |pmid= 15623830 |doi= 10.1093/jn/135.1.42|pmc=1307527}}
*{{cite journal |author=Nabokina SM, Said HM |title=Characterization of the 5'-regulatory region of the human thiamin transporter SLC19A3: in vitro and in vivo studies. |journal=Am. J. Physiol. Gastrointest. Liver Physiol. |volume=287 |issue= 4 |pages= G822-9 |year= 2004 |pmid= 15217784 |doi= 10.1152/ajpgi.00234.2004 }}
*{{cite journal |vauthors=Nabokina SM, Said HM |title=Characterization of the 5'-regulatory region of the human thiamin transporter SLC19A3: in vitro and in vivo studies. |journal=Am. J. Physiol. Gastrointest. Liver Physiol. |volume=287 |issue= 4 |pages= G822-9 |year= 2004 |pmid= 15217784 |doi= 10.1152/ajpgi.00234.2004 |s2cid=22973189 }}
*{{cite journal |author=Liu S, Stromberg A, Tai HH, Moscow JA |title=Thiamine transporter gene expression and exogenous thiamine modulate the expression of genes involved in drug and prostaglandin metabolism in breast cancer cells. |journal=Mol. Cancer Res. |volume=2 |issue= 8 |pages= 477–87 |year= 2004 |pmid= 15328374 |doi= }}
*{{cite journal |vauthors=Liu S, Stromberg A, Tai HH, Moscow JA |title=Thiamine transporter gene expression and exogenous thiamine modulate the expression of genes involved in drug and prostaglandin metabolism in breast cancer cells. |journal=Mol. Cancer Res. |volume=2 |issue= 8 |pages= 477–87 |year= 2004 |doi=10.1158/1541-7786.477.2.8 |pmid= 15328374 |s2cid=2963046 |doi-access=free }}
*{{cite journal |author=Ganapathy V, Smith SB, Prasad PD |title=SLC19: the folate/thiamine transporter family. |journal=Pflugers Arch. |volume=447 |issue= 5 |pages= 641–6 |year= 2004 |pmid= 14770311 |doi= 10.1007/s00424-003-1068-1 }}
*{{cite journal |vauthors=Ganapathy V, Smith SB, Prasad PD |title=SLC19: the folate/thiamine transporter family. |journal=Pflügers Arch. |volume=447 |issue= 5 |pages= 641–6 |year= 2004 |pmid= 14770311 |doi= 10.1007/s00424-003-1068-1 |s2cid=7410075 }}
*{{cite journal |author=Ashokkumar B, Vaziri ND, Said HM |title=Thiamin uptake by the human-derived renal epithelial (HEK-293) cells: cellular and molecular mechanisms. |journal=Am. J. Physiol. Renal Physiol. |volume=291 |issue= 4 |pages= F796-805 |year= 2006 |pmid= 16705148 |doi= 10.1152/ajprenal.00078.2006 }}
*{{cite journal |vauthors=Ashokkumar B, Vaziri ND, Said HM |title=Thiamin uptake by the human-derived renal epithelial (HEK-293) cells: cellular and molecular mechanisms. |journal=Am. J. Physiol. Renal Physiol. |volume=291 |issue= 4 |pages= F796-805 |year= 2006 |pmid= 16705148 |doi= 10.1152/ajprenal.00078.2006 }}
*{{cite journal |author=Nabokina SM, Reidling JC, Said HM |title=Differentiation-dependent up-regulation of intestinal thiamin uptake: cellular and molecular mechanisms. |journal=J. Biol. Chem. |volume=280 |issue= 38 |pages= 32676–82 |year= 2005 |pmid= 16055442 |doi= 10.1074/jbc.M505243200 }}
*{{cite journal |vauthors=Nabokina SM, Reidling JC, Said HM |title=Differentiation-dependent up-regulation of intestinal thiamin uptake: cellular and molecular mechanisms. |journal=J. Biol. Chem. |volume=280 |issue= 38 |pages= 32676–82 |year= 2005 |pmid= 16055442 |doi= 10.1074/jbc.M505243200 |doi-access= free }}
*{{cite journal |author=Rajgopal A, Edmondnson A, Goldman ID, Zhao R |title=SLC19A3 encodes a second thiamine transporter ThTr2. |journal=Biochim. Biophys. Acta |volume=1537 |issue= 3 |pages= 175–8 |year= 2001 |pmid= 11731220 |doi= 10.1016/s0925-4439(01)00073-4}}
*{{cite journal |vauthors=Rajgopal A, Edmondnson A, Goldman ID, Zhao R |title=SLC19A3 encodes a second thiamine transporter ThTr2. |journal=Biochim. Biophys. Acta |volume=1537 |issue= 3 |pages= 175–8 |year= 2001 |pmid= 11731220 |doi= 10.1016/s0925-4439(01)00073-4|doi-access=free }}
*{{cite journal |vauthors=Liu X, Lam EK, Wang X, etal |title=Promoter hypermethylation mediates downregulation of thiamine receptor SLC19A3 in gastric cancer. |journal=Tumour Biol. |volume=30 |issue= 5-6 |pages= 242–8 |year= 2009 |pmid= 19816091 |doi= 10.1159/000243767 }}
*{{cite journal |vauthors=Liu X, Lam EK, Wang X, etal |title=Promoter hypermethylation mediates downregulation of thiamine receptor SLC19A3 in gastric cancer. |journal=Tumour Biol. |volume=30 |issue= 5–6 |pages= 242–8 |year= 2009 |pmid= 19816091 |doi= 10.1159/000243767 |s2cid=33408137 }}
*{{cite journal |author=Haas RH |title=Thiamin and the brain. |journal=Annu. Rev. Nutr. |volume=8 |issue= |pages= 483–515 |year= 1988 |pmid= 3060175 |doi= 10.1146/annurev.nu.08.070188.002411 }}
*{{cite journal |author=Haas RH |title=Thiamin and the brain. |journal=Annu. Rev. Nutr. |volume=8 |pages= 483–515 |year= 1988 |pmid= 3060175 |doi= 10.1146/annurev.nu.08.070188.002411 }}
*{{cite journal |vauthors=Hillier LW, Graves TA, Fulton RS, etal |title=Generation and annotation of the DNA sequences of human chromosomes 2 and 4. |journal=Nature |volume=434 |issue= 7034 |pages= 724–31 |year= 2005 |pmid= 15815621 |doi= 10.1038/nature03466 }}
*{{cite journal |vauthors=Hillier LW, Graves TA, Fulton RS, etal |title=Generation and annotation of the DNA sequences of human chromosomes 2 and 4. |journal=Nature |volume=434 |issue= 7034 |pages= 724–31 |year= 2005 |pmid= 15815621 |doi= 10.1038/nature03466 |bibcode=2005Natur.434..724H |doi-access= free }}
*{{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 |pmc=528928}}
*{{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 |pmc=528928}}
*{{cite journal |author=Subramanian VS, Marchant JS, Said HM |title=Targeting and trafficking of the human thiamine transporter-2 in epithelial cells. |journal=J. Biol. Chem. |volume=281 |issue= 8 |pages= 5233–45 |year= 2006 |pmid= 16371350 |doi= 10.1074/jbc.M512765200 }}
*{{cite journal |vauthors=Subramanian VS, Marchant JS, Said HM |title=Targeting and trafficking of the human thiamine transporter-2 in epithelial cells. |journal=J. Biol. Chem. |volume=281 |issue= 8 |pages= 5233–45 |year= 2006 |pmid= 16371350 |doi= 10.1074/jbc.M512765200 |doi-access= free }}
*{{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |doi= 10.1073/pnas.242603899 |pmc=139241}}
*{{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |doi= 10.1073/pnas.242603899 |pmc=139241|bibcode=2002PNAS...9916899M |doi-access=free }}
*{{cite journal |vauthors=Mee L, Nabokina SM, Sekar VT, etal |title=Pancreatic beta cells and islets take up thiamin by a regulated carrier-mediated process: studies using mice and human pancreatic preparations. |journal=Am. J. Physiol. Gastrointest. Liver Physiol. |volume=297 |issue= 1 |pages= G197-206 |year= 2009 |pmid= 19423748 |doi= 10.1152/ajpgi.00092.2009 |pmc=2711754}}
*{{cite journal |vauthors=Mee L, Nabokina SM, Sekar VT, etal |title=Pancreatic beta cells and islets take up thiamin by a regulated carrier-mediated process: studies using mice and human pancreatic preparations. |journal=Am. J. Physiol. Gastrointest. Liver Physiol. |volume=297 |issue= 1 |pages= G197-206 |year= 2009 |pmid= 19423748 |doi= 10.1152/ajpgi.00092.2009 |pmc=2711754}}
*{{cite journal |vauthors=Liu S, Huang H, Lu X, etal |title=Down-regulation of thiamine transporter THTR2 gene expression in breast cancer and its association with resistance to apoptosis. |journal=Mol. Cancer Res. |volume=1 |issue= 9 |pages= 665–73 |year= 2003 |pmid= 12861052 |doi= }}
*{{cite journal |vauthors=Liu S, Huang H, Lu X, etal |title=Down-regulation of thiamine transporter THTR2 gene expression in breast cancer and its association with resistance to apoptosis. |journal=Mol. Cancer Res. |volume=1 |issue= 9 |pages= 665–73 |year= 2003 |pmid= 12861052 }}
{{refend}}
{{refend}}


Latest revision as of 02:46, 29 November 2023

SLC19A3
Identifiers
AliasesSLC19A3, BBGD, THMD2, THTR2, solute carrier family 19 member 3, thTr-2
External IDsOMIM: 606152; MGI: 1931307; HomoloGene: 23530; GeneCards: SLC19A3; OMA:SLC19A3 - orthologs
Orthologs
SpeciesHumanMouse
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 MbChr 1: 82.99 – 83.02 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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.[5][6][7] SLC19A3 is a thiamine transporter.

Function

[edit]

ThTr-2 is a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity.[5]

It is specifically inhibited by chloroquine.[8]

Clinical significance

[edit]

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.[5]

References

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000135917 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000038496 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b c "Entrez Gene: solute carrier family 19".
  6. ^ Eudy JD, Spiegelstein O, Barber RC, Wlodarczyk BJ, Talbot J, Finnell RH (December 2000). "Identification and characterization of the human and mouse SLC19A3 gene: a novel member of the reduced folate family of micronutrient transporter genes". Mol. Genet. Metab. 71 (4): 581–90. doi:10.1006/mgme.2000.3112. PMID 11136550.
  7. ^ Zeng WQ, Al-Yamani E, Acierno JS, Slaugenhaupt S, Gillis T, MacDonald ME, Ozand PT, Gusella JF (July 2005). "Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3". Am. J. Hum. Genet. 77 (1): 16–26. doi:10.1086/431216. PMC 1226189. PMID 15871139.
  8. ^ Huang Z, Srinivasan S, Zhang J, Chen K, Li Y, Li W, Quiocho FA, Pan X (2012). "Discovering thiamine transporters as targets of chloroquine using a novel functional genomics strategy". PLOS Genet. 8 (11): e1003083. doi:10.1371/journal.pgen.1003083. PMC 3510038. PMID 23209439. Open access icon

Further reading

[edit]
[edit]

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


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