[{"@context":"http:\/\/schema.org\/","@type":"BlogPosting","@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/thiamine-transporter-1-wikipedia\/#BlogPosting","mainEntityOfPage":"https:\/\/wiki.edu.vn\/en\/wiki24\/thiamine-transporter-1-wikipedia\/","headline":"Thiamine transporter 1 – Wikipedia","name":"Thiamine transporter 1 – Wikipedia","description":"before-content-x4 From Wikipedia, the free encyclopedia after-content-x4 Mammalian protein found in Homo sapiens Thiamine transporter 1, also known as thiamine","datePublished":"2021-10-25","dateModified":"2021-10-25","author":{"@type":"Person","@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/author\/lordneo\/#Person","name":"lordneo","url":"https:\/\/wiki.edu.vn\/en\/wiki24\/author\/lordneo\/","image":{"@type":"ImageObject","@id":"https:\/\/secure.gravatar.com\/avatar\/c9645c498c9701c88b89b8537773dd7c?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/c9645c498c9701c88b89b8537773dd7c?s=96&d=mm&r=g","height":96,"width":96}},"publisher":{"@type":"Organization","name":"Enzyklop\u00e4die","logo":{"@type":"ImageObject","@id":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","url":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","width":600,"height":60}},"image":{"@type":"ImageObject","@id":"https:\/\/upload.wikimedia.org\/wikipedia\/en\/thumb\/6\/62\/PD-icon.svg\/12px-PD-icon.svg.png","url":"https:\/\/upload.wikimedia.org\/wikipedia\/en\/thumb\/6\/62\/PD-icon.svg\/12px-PD-icon.svg.png","height":"12","width":"12"},"url":"https:\/\/wiki.edu.vn\/en\/wiki24\/thiamine-transporter-1-wikipedia\/","wordCount":8705,"articleBody":"     (adsbygoogle = window.adsbygoogle || []).push({});before-content-x4From Wikipedia, the free encyclopedia       (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4Mammalian protein found in Homo sapiensThiamine 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] SLC19A2 is a thiamine transporter. Mutations in this gene cause thiamine-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness.[6][7][8]       (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4Table of ContentsStructure[edit]Function[edit]Clinical significance[edit]Interactions[edit]References[edit]Further reading[edit]External links[edit]Structure[edit]The SLC19A2 gene is located on the q arm of chromosome 1 in position 24.2 and spans 22,062 base pairs.[7] The gene produces a 55.4 kDa protein composed of 497 amino acids.[9][10] In the encoded protein (TC1), a multi-pass membrane protein located in the cell membrane, the N-terminus and C-terminus face the cytosol.[11][12] This gene has 6 exons while the protein has 12 putative transmembrane domains, with 3 phosphorylation sites in putative intracellular domains, 2 N-glycolysation sites in putative extracellular domains, and a 17-amino acid long G protein-coupled receptor signature sequence. The thiamine transporter protein encoded by SLC19A2 has a 40% shared amino acid identity with the folate transporter SLC19A1.[13] The N-terminal domain and the sequence between the C-terminal domain and sixth transmembrane domain are required for proper localization of this protein to the cell membrane.[14][15]Function[edit]The encoded protein is a high-affinity transporter specific to the intake of thiamine.[11][12] Thiamine transport is not inhibited by other organic cations nor affected by sodium ion concentration; it is stimulated by a proton gradient directed outward, with an optimal pH between 8.0 and 8.5.[13] TC1 is transported to the cell membrane by intracellular vesicles via microtubules.[14][15]       (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4Clinical significance[edit]Mutations in the SLC19A2 gene can cause thiamine-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disease characterized by megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Onset is typically between infancy and adolescence, but all of the cardinal findings are often not present initially. The anemia, and sometimes the diabetes, improves with high doses of thiamine. Other more variable features include optic atrophy, congenital heart defects, short stature, and stroke.[11][12]A 3.8 kb transcript is expressed variably in most tissues, highest in skeletal and cardiac muscle, followed by medium expression placenta, heart, liver, kidney cells and low expression in lung cells. In melanocytic cells SLC19A2 gene expression may be regulated by MITF.[16]Interactions[edit]This protein interacts with CERS2.[17]References[edit]^ 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.^ Neufeld EJ, Mandel H, Raz T, Szargel R, Yandava CN, Stagg A, Faur\u00e9 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”. American Journal of Human Genetics. 61 (6): 1335\u201341. doi:10.1086\/301642. PMC\u00a01716091. PMID\u00a09399900.^ Bay A, Keskin M, Hizli S, Uygun H, Dai A, Gumruk F (October 2010). “Thiamine-responsive megaloblastic anemia syndrome”. International Journal of Hematology. 92 (3): 524\u20136. doi:10.1007\/s12185-010-0681-y. PMID\u00a020835854. S2CID\u00a021487938.^ a b “Entrez Gene: solute carrier family 19 (thiamine transporter)”. This article incorporates text from this source, which is in the public domain.^ 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”. Nature Genetics. 22 (3): 300\u20134. doi:10.1038\/10372. PMID\u00a010391221. S2CID\u00a026615141.^ Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P (October 2013). “Integration of cardiac proteome biology and medicine by a specialized knowledgebase”. Circulation Research. 113 (9): 1043\u201353. doi:10.1161\/CIRCRESAHA.113.301151. PMC\u00a04076475. PMID\u00a023965338.^ “SLC19A2 – Thiamine transporter 1”. Cardiac Organellar Protein Atlas Knowledgebase (COPaKB).^ a b c “SLC19A2 – Thiamine transporter 1 – Homo sapiens (Human) – SLC19A2 gene & protein”. www.uniprot.org. Retrieved 2018-08-21.\u00a0This article incorporates text available under the CC BY 4.0 license.^ a b c “UniProt: the universal protein knowledgebase”. Nucleic Acids Research. 45 (D1): D158\u2013D169. January 2017. doi:10.1093\/nar\/gkw1099. PMC\u00a05210571. PMID\u00a027899622.^ a b Dutta B, Huang W, Molero M, Kekuda R, Leibach FH, Devoe LD, Ganapathy V, Prasad PD (November 1999). “Cloning of the human thiamine transporter, a member of the folate transporter family”. The Journal of Biological Chemistry. 274 (45): 31925\u20139. doi:10.1074\/jbc.274.45.31925. PMID\u00a010542220.^ a b Subramanian VS, Marchant JS, Parker I, Said HM (February 2003). “Cell biology of the human thiamine transporter-1 (hTHTR1). Intracellular trafficking and membrane targeting mechanisms”. The Journal of Biological Chemistry. 278 (6): 3976\u201384. doi:10.1074\/jbc.M210717200. PMID\u00a012454006.^ a b Online Mendelian Inheritance in Man, OMIM\u00ae. Johns Hopkins University, Baltimore, MD. MIM Number: {603941}: {11\/22\/2017}: . World Wide Web URL: https:\/\/omim.org\/^ Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (December 2008). “Novel MITF targets identified using a two-step DNA microarray strategy”. Pigment Cell & Melanoma Research. 21 (6): 665\u201376. doi:10.1111\/j.1755-148X.2008.00505.x. PMID\u00a019067971.^ IntAct. “IntAct Portal”. www.ebi.ac.uk. Retrieved 2018-08-23.Further reading[edit]Scharfe C, Hauschild M, Klopstock T, Janssen AJ, Heidemann PH, Meitinger T, Jaksch M (September 2000). “A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I”. Journal of Medical Genetics. 37 (9): 669\u201373. doi:10.1136\/jmg.37.9.669. PMC\u00a01734685. PMID\u00a010978358.Guerrini I, Thomson AD, Cook CC, McQuillin A, Sharma V, Kopelman M, Reynolds G, Jauhar P, Harper C, Gurling HM (August 2005). “Direct genomic PCR sequencing of the high affinity thiamine transporter (SLC19A2) gene identifies three genetic variants in Wernicke Korsakoff syndrome (WKS)”. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics. 137B (1): 17\u20139. doi:10.1002\/ajmg.b.30194. PMID\u00a016015585. S2CID\u00a037693278.Subramanian VS, Mohammed ZM, Molina A, Marchant JS, Vaziri ND, Said HM (July 2007). “Vitamin B1 (thiamine) uptake by human retinal pigment epithelial (ARPE-19) cells: mechanism and regulation”. The Journal of Physiology. 582 (Pt 1): 73\u201385. doi:10.1113\/jphysiol.2007.128843. PMC\u00a02075275. PMID\u00a017463047.Ashokkumar B, Vaziri ND, Said HM (October 2006). “Thiamin uptake by the human-derived renal epithelial (HEK-293) cells: cellular and molecular mechanisms”. American Journal of Physiology. Renal Physiology. 291 (4): F796\u2013805. doi:10.1152\/ajprenal.00078.2006. PMID\u00a016705148.Nabokina SM, Reidling JC, Said HM (September 2005). “Differentiation-dependent up-regulation of intestinal thiamin uptake: cellular and molecular mechanisms”. The Journal of Biological Chemistry. 280 (38): 32676\u201382. doi:10.1074\/jbc.M505243200. PMID\u00a016055442.Barbe L, Lundberg E, Oksvold P, Stenius A, Lewin E, Bj\u00f6rling E, Asplund A, Pont\u00e9n F, Brismar H, Uhl\u00e9n M, Andersson-Svahn H (March 2008). “Toward a confocal subcellular atlas of the human proteome”. Molecular & Cellular Proteomics. 7 (3): 499\u2013508. doi:10.1074\/mcp.M700325-MCP200. PMID\u00a018029348.Ehret GB, O’Connor AA, Weder A, Cooper RS, Chakravarti A (December 2009). “Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study”. European Journal of Human Genetics. 17 (12): 1650\u20137. doi:10.1038\/ejhg.2009.94. PMC\u00a02783544. PMID\u00a019536175.Olsen BS, Hahnemann JM, Schwartz M, \u00d8stergaard E (August 2007). “Thiamine-responsive megaloblastic anaemia: a cause of syndromic diabetes in childhood”. Pediatric Diabetes. 8 (4): 239\u201341. doi:10.1111\/j.1399-5448.2007.00251.x. PMID\u00a017659067. S2CID\u00a024093373.Subramanian VS, Marchant JS, Said HM (July 2007). “Targeting and intracellular trafficking of clinically relevant hTHTR1 mutations in human cell lines”. Clinical Science. 113 (2): 93\u2013102. doi:10.1042\/CS20060331. PMID\u00a017331069.Pei LJ, Zhu HP, Li ZW, Zhang W, Ren AG, Zhu JH, Li Z (June 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 = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics. 22 (3): 284\u20137. PMID\u00a015952116.Haas RH (1988). “Thiamin and the brain”. Annual Review of Nutrition. 8: 483\u2013515. doi:10.1146\/annurev.nu.08.070188.002411. PMID\u00a03060175.Ricketts CJ, Minton JA, Samuel J, Ariyawansa I, Wales JK, Lo IF, Barrett TG (January 2006). “Thiamine-responsive megaloblastic anaemia syndrome: long-term follow-up and mutation analysis of seven families”. Acta Paediatrica. 95 (1): 99\u2013104. doi:10.1080\/08035250500323715. PMID\u00a016373304.Lagarde WH, Underwood LE, Moats-Staats BM, Calikoglu AS (March 2004). “Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome”. American Journal of Medical Genetics. Part A. 125A (3): 299\u2013305. doi:10.1002\/ajmg.a.20506. PMID\u00a014994241. S2CID\u00a012191136.Ashton LJ, Gifford AJ, Kwan E, Lingwood A, Lau DT, Marshall GM, Haber M, Norris MD (July 2009). “Reduced folate carrier and methylenetetrahydrofolate reductase gene polymorphisms: associations with clinical outcome in childhood acute lymphoblastic leukemia”. Leukemia. 23 (7): 1348\u201351. doi:10.1038\/leu.2009.67. PMID\u00a019340000.Bergmann AK, Campagna DR, McLoughlin EM, Agarwal S, Fleming MD, Bottomley SS, Neufeld EJ (February 2010). “Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations”. Pediatric Blood & Cancer. 54 (2): 273\u20138. doi:10.1002\/pbc.22244. PMC\u00a02843911. PMID\u00a019731322.Subramanian VS, Marchant JS, Said HM (February 2006). “Targeting and trafficking of the human thiamine transporter-2 in epithelial cells”. The Journal of Biological Chemistry. 281 (8): 5233\u201345. doi:10.1074\/jbc.M512765200. PMID\u00a016371350.Mee L, Nabokina SM, Sekar VT, Subramanian VS, Maedler K, Said HM (July 2009). “Pancreatic beta cells and islets take up thiamin by a regulated carrier-mediated process: studies using mice and human pancreatic preparations”. American Journal of Physiology. Gastrointestinal and Liver Physiology. 297 (1): G197\u2013206. doi:10.1152\/ajpgi.00092.2009. PMC\u00a02711754. PMID\u00a019423748.Cheung CL, Chan BY, Chan V, Ikegawa S, Kou I, Ngai H, Smith D, Luk KD, Huang QY, Mori S, Sham PC, Kung AW (February 2009). “Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation”. Human Molecular Genetics. 18 (4): 679\u201387. doi:10.1093\/hmg\/ddn397. PMID\u00a019064610.Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S (October 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\u20133. doi:10.2337\/dc10-0452. PMC\u00a02945168. PMID\u00a020628086.External links[edit]This article incorporates text from the United States National Library of Medicine, which is in the public domain.       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