Thiamine transporter 1

SLC19A2
Identifiers
Aliases	SLC19A2, TC1, THMD1, THT1, THTR1, TRMA, solute carrier family 19 member 2
External IDs	OMIM: 603941; MGI: 1928761; HomoloGene: 38258; GeneCards: SLC19A2; OMA:SLC19A2 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	169,485,944 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	164,092,954 bp
RNA expression pattern
	Top expressed in
	secondary oocyte; ; gastrocnemius muscle; ; tibialis anterior muscle; ; Skeletal muscle tissue of rectus abdominis; ; biceps brachii; ; deltoid muscle; ; muscle of thigh; ; gastric mucosa; ; buccal mucosa cell; ; body of tongue;
	Top expressed in
	retinal pigment epithelium; ; left lobe of liver; ; facial motor nucleus; ; medullary collecting duct; ; cornea; ; endothelial cell of lymphatic vessel; ; interventricular septum; ; motor neuron; ; cumulus cell; ; spermatocyte;
	More reference expression data
	n/a
Gene ontology
Molecular function	folic acid transmembrane transporter activity; protein binding; 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; folic acid transport; thiamine transmembrane transport; vitamin transport; transmembrane transport;
	Sources:Amigo / QuickGO
Orthologs
	10560
	116914
	ENSG00000117479
	ENSMUSG00000040918
	O60779
	Q9EQN9
	NM_006996; NM_001319667
	NM_001276455; NM_054087
	NP_001306596; NP_008927
	NP_001263384; NP_473428
	Wikidata
View/Edit Human	View/Edit Mouse

Thiamine transporter 1, also known as thiamine carrier 1 (TC1) or solute carrier family 19 member 2 (SLC19A2) is a protein that in humans is encoded by the SLC19A2 gene.^[5]^[6]^[7] SLC19A2 is a thiamine transporter.

In melanocytic cells SLC19A2 gene expression may be regulated by MITF.^[8]

Clinical significance

Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness.^[9]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000117479 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000040918 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: solute carrier family 19 (thiamine transporter)".
^ Neufeld EJ; Mandel H; Raz T; Szargel R; Yandava CN; Stagg A; Fauré S; Barrett T; Buist N; Cohen N (December 1997). "Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping". Am. J. Hum. Genet. 61 (6): 1335–41. doi:10.1086/301642. PMC 1716091. PMID 9399900.
^ Labay V; Raz T; Baron D; Mandel H; Williams H; Barrett T; Szargel R; McDonald L; Shalata A; Nosaka K; Gregory S; Cohen N (July 1999). "Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness". Nat. Genet. 22 (3): 300–4. doi:10.1038/10372. PMID 10391221.
^ Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.
^ Bay A; Keskin M; Hizli S; Uygun H; Dai A; Gumruk F (October 2010). "Thiamine-responsive megaloblastic anemia syndrome". Int. J. Hematol. 92 (3): 524–6. doi:10.1007/s12185-010-0681-y. PMID 20835854.

Guerrini I, Thomson AD, Cook CC, et al. (2005). "Direct genomic PCR sequencing of the high affinity thiamine transporter (SLC19A2) gene identifies three genetic variants in Wernicke Korsakoff syndrome (WKS)". Am. J. Med. Genet. B Neuropsychiatr. Genet. 137B (1): 17–9. doi:10.1002/ajmg.b.30194. PMID 16015585.
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. (Lond.). 582 (Pt 1): 73–85. doi:10.1113/jphysiol.2007.128843. PMC 2075275. PMID 17463047.
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.{{cite journal}}: CS1 maint: unflagged free DOI (link)
Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414.
Barbe L, Lundberg E, Oksvold P, et al. (2008). "Toward a confocal subcellular atlas of the human proteome". Mol. Cell Proteomics. 7 (3): 499–508. doi:10.1074/mcp.M700325-MCP200. PMID 18029348.{{cite journal}}: CS1 maint: unflagged free DOI (link)
Ehret GB, O'Connor AA, Weder A, et al. (2009). "Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study". Eur. J. Hum. Genet. 17 (12): 1650–7. doi:10.1038/ejhg.2009.94. PMC 2783544. PMID 19536175.
Talmud PJ, Drenos F, Shah S, et al. (2009). "Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip". Am. J. Hum. Genet. 85 (5): 628–42. doi:10.1016/j.ajhg.2009.10.014. PMC 2775832. PMID 19913121.
Olsen BS; Hahnemann JM; Schwartz M; Østergaard E (2007). "Thiamine-responsive megaloblastic anaemia: a cause of syndromic diabetes in childhood". Pediatr Diabetes. 8 (4): 239–41. doi:10.1111/j.1399-5448.2007.00251.x. PMID 17659067.
Subramanian VS; Marchant JS; Said HM (2007). "Targeting and intracellular trafficking of clinically relevant hTHTR1 mutations in human cell lines". Clin. Sci. 113 (2): 93–102. doi:10.1042/CS20060331. PMID 17331069.
Pei LJ, Zhu HP, Li ZW, et al. (2005). "Interaction between maternal periconceptional supplementation of folic acid and reduced folate carrier gene polymorphism of neural tube defects". Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 22 (3): 284–7. PMID 15952116.
Haas RH (1988). "Thiamin and the brain". Annu. Rev. Nutr. 8: 483–515. doi:10.1146/annurev.nu.08.070188.002411. PMID 3060175.
Ricketts CJ, Minton JA, Samuel J, et al. (2006). "Thiamine-responsive megaloblastic anaemia syndrome: long-term follow-up and mutation analysis of seven families". Acta Paediatr. 95 (1): 99–104. doi:10.1080/08035250500323715. PMID 16373304.
Lagarde WH; Underwood LE; Moats-Staats BM; Calikoglu AS (2004). "Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome". Am. J. Med. Genet. A. 125A (3): 299–305. doi:10.1002/ajmg.a.20506. PMID 14994241.
Ashton LJ, Gifford AJ, Kwan E, et al. (2009). "Reduced folate carrier and methylenetetrahydrofolate reductase gene polymorphisms: associations with clinical outcome in childhood acute lymphoblastic leukemia". Leukemia. 23 (7): 1348–51. doi:10.1038/leu.2009.67. PMID 19340000.
Bergmann AK, Campagna DR, McLoughlin EM, et al. (2010). "Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations". Pediatr Blood Cancer. 54 (2): 273–8. doi:10.1002/pbc.22244. PMC 2843911. PMID 19731322.
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.{{cite journal}}: CS1 maint: unflagged free DOI (link)
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.
Cheung CL, Chan BY, Chan V, et al. (2009). "Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation". Hum. Mol. Genet. 18 (4): 679–87. doi:10.1093/hmg/ddn397. PMID 19064610.
Bailey SD, Xie C, Do R, et al. (2010). "Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study". Diabetes Care. 33 (10): 2250–3. doi:10.2337/dc10-0452. PMC 2945168. PMID 20628086.

External links

GeneReviews/NIH/NCBI/UW entry on Thiamine-Responsive Megaloblastic Anemia or Rogers Syndrome
SLC19A2+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This membrane protein–related article is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000117479 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000040918 – 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.

[entrez-5] "Entrez Gene: solute carrier family 19 (thiamine transporter)".

[pmid9399900-6] Neufeld EJ; Mandel H; Raz T; Szargel R; Yandava CN; Stagg A; Fauré S; Barrett T; Buist N; Cohen N (December 1997). "Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping". Am. J. Hum. Genet. 61 (6): 1335–41. doi:10.1086/301642. PMC 1716091. PMID 9399900.

[pmid10391221-7] Labay V; Raz T; Baron D; Mandel H; Williams H; Barrett T; Szargel R; McDonald L; Shalata A; Nosaka K; Gregory S; Cohen N (July 1999). "Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness". Nat. Genet. 22 (3): 300–4. doi:10.1038/10372. PMID 10391221.

[pmid19067971-8] Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.

[pmid20835854-9] Bay A; Keskin M; Hizli S; Uygun H; Dai A; Gumruk F (October 2010). "Thiamine-responsive megaloblastic anemia syndrome". Int. J. Hematol. 92 (3): 524–6. doi:10.1007/s12185-010-0681-y. PMID 20835854.

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Clinical significance

References

Further reading

External links