TPK1

Thiamin pyrophosphokinase 1

Identifiers

TPK1; HTPK1; PP20

External IDs

OMIM: 606370 MGI: 1352500 HomoloGene: 6960 GeneCards: TPK1 Gene

2.7.6.2

Gene Ontology
Molecular function	• nucleotide binding • thiamine diphosphokinase activity • ATP binding • kinase activity • transferase activity
Cellular component	• cytosol
Biological process	• vitamin metabolic process • water-soluble vitamin metabolic process • thiamine metabolic process • thiamine diphosphate biosynthetic process • thiamine-containing compound metabolic process
Sources: Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 7:
144.15 – 144.53 Mb

Chr 6:
43.3 – 43.62 Mb

PubMed search

[1]

[2]

Thiamin pyrophosphokinase 1 is an enzyme that in humans is encoded by the TPK1 gene.^[1]^[2]

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.^[2]

References

^ Nosaka K, Onozuka M, Kakazu N, Hibi S, Nishimura H, Nishino H, Abe T (May 2001). "Isolation and characterization of a human thiamine pyrophosphokinase cDNA". Biochim Biophys Acta 1517 (2): 293–7. PMID 11342111.
^ ^a ^b "Entrez Gene: TPK1 thiamin pyrophosphokinase 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=27010.

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.
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. 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. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
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. PMC 2882961. PMID 12690205. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2882961.
Onozuka M, Nosaka K (2004). "Steady-state kinetics and mutational studies of recombinant human thiamin pyrophosphokinase". J. Nutr. Sci. Vitaminol. 49 (3): 156–62. 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
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.
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. 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1356129.
Fradin D, Bougneres P (2007). "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. doi:10.1111/j.1469-1809.2007.00348.x. PMID 17295612.

TPK1

References

Further reading