TPK1

From Wikipedia, the free encyclopedia

Thiamin pyrophosphokinase 1

Identifiers

TPK1; HTPK1; PP20

External IDs

OMIM: 606370 MGI: 1352500 HomoloGene: 6960

Gene ontology
Molecular Function:	• nucleotide binding • thiamin diphosphokinase activity • ATP binding • transferase activity
Biological Process:	• thiamin metabolic process • thiamin diphosphate biosynthetic process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_001042482 (mRNA)
NP_001035947 (protein)

NM_013861 (mRNA)
NP_038889 (protein)

Location

Chr 7: 143.78 - 144.16 Mb

Chr 6: 43.28 - 43.54 Mb

Pubmed search

[1]

[2]

Thiamin pyrophosphokinase 1, also known as TPK1, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: TPK1 thiamin pyrophosphokinase 1.

[edit] 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. 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. 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.
"Toward a complete human genome sequence." (1999). Genome Res. 8 (11): 1097–108. 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. PMID 10567383.
Nosaka K, Onozuka M, Kakazu N, et al. (2001). "Isolation and characterization of a human thiamine pyrophosphokinase cDNA.". Biochim. Biophys. Acta 1517 (2): 293–7. PMID 11342111.
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. PMID 12477932.
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.
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. 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.
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. 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.". Ann. Hum. Genet. 71 (Pt 5): 578–85. doi:10.1111/j.1469-1809.2007.00348.x. PMID 17295612.