- TPK1
Thiamin pyrophosphokinase 1, also known as TPK1, is a human
gene .cite web | title = Entrez Gene: TPK1 thiamin pyrophosphokinase 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=27010| accessdate = ]PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: TPK1 thiamin pyrophosphokinase 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=27010| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Egi Y, Koyama S, Shioda T, "et al." |title=Identification, purification and reconstitution of thiamin metabolizing enzymes in human red blood cells. |journal=Biochim. Biophys. Acta |volume=1160 |issue= 2 |pages= 171–8 |year= 1992 |pmid= 1332781 |doi=
*cite journal | author=Bohn H, Winckler W |title=Isolation and characterization of four new placental tissue proteins (PP18, PP19, PP20, PP21). |journal=Arch. Gynecol. |volume=236 |issue= 4 |pages= 235–42 |year= 1985 |pmid= 3896163 |doi=
*cite journal | author=Iwashima A, Kinugasa A, Nose Y |title=Radiometric assay for thiamine pyrophosphokinase activity in human leukocytes. |journal=Acta Vitaminol. Enzymol. |volume=5 |issue= 1 |pages= 41–5 |year= 1983 |pmid= 6303095 |doi=
*cite journal | author= |title=Toward a complete human genome sequence. |journal=Genome Res. |volume=8 |issue= 11 |pages= 1097–108 |year= 1999 |pmid= 9847074 |doi=
*cite journal | author=Nosaka K, Onozuka M, Nishino H, "et al." |title=Molecular cloning and expression of a mouse thiamin pyrophosphokinase cDNA. |journal=J. Biol. Chem. |volume=274 |issue= 48 |pages= 34129–33 |year= 1999 |pmid= 10567383 |doi=
*cite journal | author=Nosaka K, Onozuka M, Kakazu N, "et al." |title=Isolation and characterization of a human thiamine pyrophosphokinase cDNA. |journal=Biochim. Biophys. Acta |volume=1517 |issue= 2 |pages= 293–7 |year= 2001 |pmid= 11342111 |doi=
*cite journal | author=Zhao R, Gao F, Goldman ID |title=Molecular cloning of human thiamin pyrophosphokinase. |journal=Biochim. Biophys. Acta |volume=1517 |issue= 2 |pages= 320–2 |year= 2001 |pmid= 11342117 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |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= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Scherer SW, Cheung J, MacDonald JR, "et al." |title=Human chromosome 7: DNA sequence and biology. |journal=Science |volume=300 |issue= 5620 |pages= 767–72 |year= 2003 |pmid= 12690205 |doi= 10.1126/science.1083423
*cite journal | author=Onozuka M, Nosaka K |title=Steady-state kinetics and mutational studies of recombinant human thiamin pyrophosphokinase. |journal=J. Nutr. Sci. Vitaminol. |volume=49 |issue= 3 |pages= 156–62 |year= 2004 |pmid= 12953792 |doi=
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |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
*cite journal | author=Bellyei S, Szigeti A, Boronkai A, "et al." |title=Cloning, sequencing, structural and molecular biological characterization of placental protein 20 (PP20)/human thiamin pyrophosphokinase (hTPK). |journal=Placenta |volume=26 |issue= 1 |pages= 34–46 |year= 2005 |pmid= 15664409 |doi= 10.1016/j.placenta.2004.03.008
*cite journal | author=Toyoshima M, Oka A, Egi Y, "et al." |title=Thiamine-responsive congenital lactic acidosis: clinical and biochemical studies. |journal=Pediatr. Neurol. |volume=33 |issue= 2 |pages= 98–104 |year= 2005 |pmid= 16087053 |doi= 10.1016/j.pediatrneurol.2005.02.007
*cite journal | author=Onozuka M, Konno H, Akaji K, "et al." |title=Molecular cloning and analysis of the 5'-flanking region of the human thiamin pyrophosphokinase gene. |journal=J. Nutr. Sci. Vitaminol. |volume=51 |issue= 4 |pages= 274–7 |year= 2006 |pmid= 16262001 |doi=
*cite journal | author=Kimura K, Wakamatsu A, Suzuki Y, "et al." |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406
*cite journal | author=Fradin D, Bougneres P |title=Three common intronic variants in the maternal and fetal thiamine pyrophosphokinase gene (TPK1) are associated with birth weight. |journal=Ann. Hum. Genet. |volume=71 |issue= Pt 5 |pages= 578–85 |year= 2007 |pmid= 17295612 |doi= 10.1111/j.1469-1809.2007.00348.xPBB_Controls
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