TPK1

TPK1
Identifiers
Aliases	TPK1, HPP20, THMD5, thiamin pyrophosphokinase 1
External IDs	OMIM: 606370; MGI: 1352500; HomoloGene: 6960; GeneCards: TPK1; OMA:TPK1 - orthologs
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3S4Y
Gene location (Human) Chr. Chromosome 7 (human) Band 7q35 Start 144,451,941 bp End 144,836,395 bp
Gene location (Mouse) Chr. Chromosome 6 (mouse) Band 6|6 B2.1 Start 43,321,935 bp End 43,643,212 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte jejunal mucosa monocyte duodenum Achilles tendon blood gonad endothelial cell testicle granulocyte Top expressed in right kidney proximal tubule epithelium of stomach human kidney pyloric antrum ileum duodenum jejunum mucous cell of stomach genital tubercle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function thiamine diphosphokinase activity transferase activity thiamine binding nucleotide binding ATP binding kinase activity Cellular component cytosol Biological process thiamine metabolic process thiamine diphosphate biosynthetic process phosphorylation thiamine-containing compound metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 27010 29807 Ensembl ENSG00000196511 ENSMUSG00000029735 UniProt Q9H3S4 Q9R0M5 RefSeq (mRNA) NM_001042482 NM_022445 NM_001350879 NM_001350880 NM_001350881 NM_001350882 NM_001350883 NM_001350884 NM_001350885 NM_001350886 NM_001350887 NM_001350889 NM_001350893 NM_001350894 NM_001350895 NM_013861 NM_001311111 RefSeq (protein) NP_001035947 NP_071890 NP_001337808 NP_001337809 NP_001337810 NP_001337811 NP_001337812 NP_001337813 NP_001337814 NP_001337815 NP_001337816 NP_001337818 NP_001337822 NP_001337823 NP_001337824 NP_001298040 NP_038889 Location (UCSC) Chr 7: 144.45 – 144.84 Mb Chr 6: 43.32 – 43.64 Mb PubMed search
Wikidata
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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.
• Bohn H, Winckler W (1985). "Isolation and characterization of four new placental tissue proteins (PP18, PP19, PP20, PP21)". Arch. Gynecol. 236 (4): 235–42. doi:10.1007/BF02133941. PMID 3896163. S2CID 6395375.
• Iwashima A, Kinugasa A, Nose Y (1983). "Radiometric assay for thiamine pyrophosphokinase activity in human leukocytes". Acta Vitaminol. Enzymol. 5 (1): 41–5. 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.
• Zhao R, Gao F, Goldman ID (2001). "Molecular cloning of human thiamin pyrophosphokinase". Biochim. Biophys. Acta. 1517 (2): 320–2. 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Scherer SW, Cheung J, MacDonald JR, et al. (2003). "Human Chromosome 7: DNA Sequence and Biology". Science. 300 (5620): 767–72. Bibcode:2003Sci...300..767S. doi:10.1126/science.1083423. PMC 2882961. PMID 12690205.
• Onozuka M, Nosaka K (2004). "Steady-state kinetics and mutational studies of recombinant human thiamin pyrophosphokinase". J. Nutr. Sci. Vitaminol. 49 (3): 156–62. 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. PMC 528928. 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" (PDF). Pediatr. Neurol. 33 (2): 98–104. doi:10.1016/j.pediatrneurol.2005.02.007. PMID 16087053.
• 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. PMC 1356129. PMID 16344560.
• Fradin D, Bougneres P (2007). "Three common intronic variants in the maternal and fetal thiamine pyrophosphokinase gene (TPK1) are associated with birth weight" (PDF). Ann. Hum. Genet. 71 (Pt 5): 578–85. doi:10.1111/j.1469-1809.2007.00348.x. PMID 17295612. S2CID 29631405.