Biology:TPK1

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

Thiamin pyrophosphokinase 1 is an enzyme that in humans is encoded by the TPK1 gene.

This gene encodes a protein, that exists as a homodimer, which catalyzes the conversion of thiamine to thiamine pyrophosphate. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.

Further reading

• Egi Y; Koyama S; Shioda T et al. (1992). "Identification, purification and reconstitution of thiamin metabolizing enzymes in human red blood cells". Biochim. Biophys. Acta 1160 (2): 171–8. doi:10.1016/0167-4838(92)90004-W. PMID 1332781. 
• "Isolation and characterization of four new placental tissue proteins (PP18, PP19, PP20, PP21)". Arch. Gynecol. 236 (4): 235–42. 1985. doi:10.1007/BF02133941. PMID 3896163. 
• "Radiometric assay for thiamine pyrophosphokinase activity in human leukocytes". Acta Vitaminol. Enzymol. 5 (1): 41–5. 1983. PMID 6303095. 
• <Please add first missing authors to populate metadata.> (1999). "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. doi:10.1101/gr.8.11.1097. PMID 9847074. 
• Nosaka K; Onozuka M; Nishino H et al. (1999). "Molecular cloning and expression of a mouse thiamin pyrophosphokinase cDNA". J. Biol. Chem. 274 (48): 34129–33. doi:10.1074/jbc.274.48.34129. PMID 10567383. 
• "Molecular cloning of human thiamin pyrophosphokinase". Biochim. Biophys. Acta 1517 (2): 320–2. 2001. doi:10.1016/s0167-4781(00)00264-5. PMID 11342117. 
• Strausberg RL; Feingold EA; Grouse LH et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M. 
• Scherer SW; Cheung J; MacDonald JR et al. (2003). "Human Chromosome 7: DNA Sequence and Biology". Science 300 (5620): 767–72. doi:10.1126/science.1083423. PMID 12690205. Bibcode: 2003Sci...300..767S. 
• "Steady-state kinetics and mutational studies of recombinant human thiamin pyrophosphokinase". J. Nutr. Sci. Vitaminol. 49 (3): 156–62. 2004. doi:10.3177/jnsv.49.156. PMID 12953792. 
• Ota T; Suzuki Y; Nishikawa T et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039. 
• 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. PMID 15489334. 
• Bellyei S; Szigeti A; Boronkai A et al. (2005). "Cloning, sequencing, structural and molecular biological characterization of placental protein 20 (PP20)/human thiamin pyrophosphokinase (hTPK)". Placenta 26 (1): 34–46. doi:10.1016/j.placenta.2004.03.008. PMID 15664409. 
• Toyoshima M; Oka A; Egi Y et al. (2005). "Thiamine-responsive congenital lactic acidosis: clinical and biochemical studies". Pediatr. Neurol. 33 (2): 98–104. doi:10.1016/j.pediatrneurol.2005.02.007. PMID 16087053. http://repository.lib.tottori-u.ac.jp/files/public/0/4263/20180622152208295157/G11_15101B00210R.pdf. 
• Onozuka M; Konno H; Akaji K et al. (2006). "Molecular cloning and analysis of the 5'-flanking region of the human thiamin pyrophosphokinase gene". J. Nutr. Sci. Vitaminol. 51 (4): 274–7. doi:10.3177/jnsv.51.274. PMID 16262001. 
• Kimura K; Wakamatsu A; Suzuki Y et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560. 
• "Three common intronic variants in the maternal and fetal thiamine pyrophosphokinase gene (TPK1) are associated with birth weight". Ann. Hum. Genet. 71 (Pt 5): 578–85. 2007. doi:10.1111/j.1469-1809.2007.00348.x. PMID 17295612. https://hal.archives-ouvertes.fr/hal-02459482/file/ahg%20TPK1.pdf.