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Gene Review

PGK1  -  phosphoglycerate kinase 1

Homo sapiens

Synonyms: Cell migration-inducing gene 10 protein, HEL-S-68p, MIG10, OK/SW-cl.110, PGKA, ...
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Disease relevance of PGK1


Psychiatry related information on PGK1


High impact information on PGK1


Chemical compound and disease context of PGK1


Biological context of PGK1

  • Two-point analysis demonstrated maximum lod scores of 5.45, 4.95, 4.28, and 5.99 for DXS106, DXS159, PGK1, and DXS72, respectively, at recombination fractions of zero (DXS106 and DXS159), .01 (PGK1), and .04 (DXS72) [15].
  • In 19 XDP kindreds significant linkage disequilibrium was found for loci DXS72 (delta = .47), PGK1 (delta = .36), DXS95 (delta = .30), DXS106 (delta = .28), and DXS159 (delta = .26) [15].
  • The binding site region of PAK2, which also binds Lys, resembles those of PGK1 and PGK4 [16].
  • The first is around the centromere (DXZ1), and the second is in the region around PGK1 (DXS441 to DXS995) [17].
  • Linkage analysis studies were conducted with two DNA probes, DXS1 and PGK1, localized to the Xq11-Xq13 region of the long arm of the X chromosome near the centromere [18].

Anatomical context of PGK1


Associations of PGK1 with chemical compounds


Physical interactions of PGK1


Enzymatic interactions of PGK1


Regulatory relationships of PGK1


Other interactions of PGK1

  • The human phosphoglycerate kinase (PGK1) gene is located within Xqll-Xql3 and is closely linked to the androgen receptor gene within a region implicated in a number of X-chromosome-linked urologic disorders [33].
  • These Alu-PCR products were synthesized from radiation hybrids containing the loci DXS159, PGK1, and PGK1P1 [34].
  • Concordant segregation of X-linked enzymes and segments of the X chromosome generated by the translocations indicated assignment of the PGK gene to a proximal long arm region (q12-q22) and the HPRT and G6PD genes to the distal half (q22-qter) of the X long arm [35].
  • The rate of heterozygosity was 25% for the PGK gene and 45% for the FMR1 gene [36].
  • Hexokinase plus glucose (agents that promote breakdown of ATP) prevent stimulation of Na transport by exogenous ATP but not by the substrates for GAPDH and PGK [37].

Analytical, diagnostic and therapeutic context of PGK1


  1. Expression of hypoxia-inducible genes in tumor cells. Kress, S., Stein, A., Maurer, P., Weber, B., Reichert, J., Buchmann, A., Huppert, P., Schwarz, M. J. Cancer Res. Clin. Oncol. (1998) [Pubmed]
  2. Short tandem repeat polymorphism linkage to the androgen receptor gene in prostate carcinoma. Riley, D.E., Krieger, J.N. Cancer (2001) [Pubmed]
  3. Other erythrocyte enzyme deficiencies associated with non-haematological symptoms: phosphoglycerate kinase and phosphofructokinase deficiency. Fujii, H., Miwa, S. Baillière's best practice & research. Clinical haematology. (2000) [Pubmed]
  4. Use of cultured lymphoblastoid cells for the study of abnormal enzymes: molecular abnormality of a phosphoglycerate kinase variant associated with hemolytic anemia. Fujii, H., Chen, S.H., Akatsuka, J., Miwa, S., Yoshida, A. Proc. Natl. Acad. Sci. U.S.A. (1981) [Pubmed]
  5. A single amino acid substitution (157 Gly----Val) in a phosphoglycerate kinase variant (PGK Shizuoka) associated with chronic hemolysis and myoglobinuria. Fujii, H., Kanno, H., Hirono, A., Shiomura, T., Miwa, S. Blood (1992) [Pubmed]
  6. Identification of new mutations in two phosphoglycerate kinase (PGK) variants expressing different clinical syndromes: PGK Créteil and PGK Amiens. Cohen-Solal, M., Valentin, C., Plassa, F., Guillemin, G., Danze, F., Jaisson, F., Rosa, R. Blood (1994) [Pubmed]
  7. Increased phosphoglycerate kinase in the brains of patients with Down's syndrome but not with Alzheimer's disease. Labudova, O., Kitzmueller, E., Rink, H., Cairns, N., Lubec, G. Clin. Sci. (1999) [Pubmed]
  8. Clonal hematopoiesis demonstrated by X-linked DNA polymorphisms after allogeneic bone marrow transplantation. Turhan, A.G., Humphries, R.K., Phillips, G.L., Eaves, A.C., Eaves, C.J. N. Engl. J. Med. (1989) [Pubmed]
  9. Human testis-specific PGK gene lacks introns and possesses characteristics of a processed gene. McCarrey, J.R., Thomas, K. Nature (1987) [Pubmed]
  10. Novel role of 3-phosphoglycerate kinase, a glycolytic enzyme, in the activation of L-nucleoside analogs, a new class of anticancer and antiviral agents. Krishnan, P., Gullen, E.A., Lam, W., Dutschman, G.E., Grill, S.P., Cheng, Y.C. J. Biol. Chem. (2003) [Pubmed]
  11. A phosphoglycerate kinase mutant (PGK Herlev; D285V) in a Danish patient with isolated chronic hemolytic anemia: mechanism of mutation and structure-function relationships. Valentin, C., Birgens, H., Craescu, C.T., Brødum-Nielsen, K., Cohen-Solal, M. Hum. Mutat. (1998) [Pubmed]
  12. Role of the hypoxia sensing system, acidity and reproductive hormones in the variability of vascular endothelial growth factor induction in human breast carcinoma cell lines. Scott, P.A., Gleadle, J.M., Bicknell, R., Harris, A.L. Int. J. Cancer (1998) [Pubmed]
  13. Myeloproliferative disorders: usefulness of X-linked probes in diagnosis. Taylor, K.M., Shetta, M., Talpaz, M., Kantarjian, H.M., Hardikar, S., Chinault, A.C., McCredie, K.B., Spitzer, G. Leukemia (1989) [Pubmed]
  14. Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria. DiMauro, S., Dalakas, M., Miranda, A.F. Ann. Neurol. (1983) [Pubmed]
  15. Dystonia-parkinsonism syndrome (XDP) locus: flanking markers in Xq12-q21.1. Kupke, K.G., Graeber, M.B., Müller, U. Am. J. Hum. Genet. (1992) [Pubmed]
  16. Lysine/fibrin binding sites of kringles modeled after the structure of kringle 1 of prothrombin. Tulinsky, A., Park, C.H., Mao, B., Llinás, M. Proteins (1988) [Pubmed]
  17. A high-resolution genetic linkage map of the pericentromeric region of the human X chromosome. Weeks, D.E., Nygaard, T.G., Neystat, M., Harby, L.D., Wilhelmsen, K.C. Genomics (1995) [Pubmed]
  18. DNA linkage analysis and studies of the androgen receptor gene in a large kindred with complete androgen insensitivity. Imperato-McGinley, J., Ip, N.Y., Gautier, T., Neuweiler, J., Gruenspan, H., Liao, S., Chang, C., Balazs, I. Am. J. Med. Genet. (1990) [Pubmed]
  19. Prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia by linkage analysis. Zonana, J., Schinzel, A., Upadhyaya, M., Thomas, N.S., Anton-Lamprecht, I., Harper, P.S. Am. J. Med. Genet. (1990) [Pubmed]
  20. Analysis of the cDNA and encoded protein of the human testis-specific PGK-2 gene. McCarrey, J.R., Kumari, M., Aivaliotis, M.J., Wang, Z., Zhang, P., Marshall, F., Vandeberg, J.L. Dev. Genet. (1996) [Pubmed]
  21. Functional identity of a primer recognition protein as phosphoglycerate kinase. Jindal, H.K., Vishwanatha, J.K. J. Biol. Chem. (1990) [Pubmed]
  22. Overexpression of human phosphoglycerate kinase 1 (PGK1) induces a multidrug resistance phenotype. Duan, Z., Lamendola, D.E., Yusuf, R.Z., Penson, R.T., Preffer, F.I., Seiden, M.V. Anticancer Res. (2002) [Pubmed]
  23. Genomic sequencing and methylation analysis by ligation mediated PCR. Pfeifer, G.P., Steigerwald, S.D., Mueller, P.R., Wold, B., Riggs, A.D. Science (1989) [Pubmed]
  24. Molecular abnormalities of a phosphoglycerate kinase variant generated by spontaneous mutation. Maeda, M., Bawle, E.V., Kulkarni, R., Beutler, E., Yoshida, A. Blood (1992) [Pubmed]
  25. A very sensitive coupled luminescent assay for cytotoxicity and complement-mediated lysis. Corey, M.J., Kinders, R.J., Brown, L.G., Vessella, R.L. J. Immunol. Methods (1997) [Pubmed]
  26. An improved assay for UDPglucose pyrophosphorylase and other enzymes that have nucleotide products. Duggleby, R.G., Peng, H.L., Chang, H.Y. Experientia (1996) [Pubmed]
  27. 5-Azacytidine-induced reactivation of the human X chromosome-linked PGK1 gene is associated with a large region of cytosine demethylation in the 5' CpG island. Hansen, R.S., Gartler, S.M. Proc. Natl. Acad. Sci. U.S.A. (1990) [Pubmed]
  28. A hot spot for hydrogen peroxide-induced damage in the human hypoxia-inducible factor 1 binding site of the PGK 1 gene. Rodriguez, H., Drouin, R., Holmquist, G.P., Akman, S.A. Arch. Biochem. Biophys. (1997) [Pubmed]
  29. Regulation of urokinase receptor expression by phosphoglycerate kinase. Shetty, S., Muniyappa, H., Halady, P.K., Idell, S. Am. J. Respir. Cell Mol. Biol. (2004) [Pubmed]
  30. A glycolytic mechanism regulating an angiogenic switch in prostate cancer. Wang, J., Wang, J., Dai, J., Jung, Y., Wei, C.L., Wang, Y., Havens, A.M., Hogg, P.J., Keller, E.T., Pienta, K.J., Nor, J.E., Wang, C.Y., Taichman, R.S. Cancer Res. (2007) [Pubmed]
  31. Reactivation of an inactive human X chromosome: evidence for X inactivation by DNA methylation. Mohandas, T., Sparkes, R.S., Shapiro, L.J. Science (1981) [Pubmed]
  32. MIG-10/lamellipodin and AGE-1/PI3K promote axon guidance and outgrowth in response to slit and netrin. Chang, C., Adler, C.E., Krause, M., Clark, S.G., Gertler, F.B., Tessier-Lavigne, M., Bargmann, C.I. Curr. Biol. (2006) [Pubmed]
  33. Short tandem repeat polymorphism in the flanking region of the human phosphoglycerate kinase gene in a Japanese population. Tie, J., Serizawa, Y., Oshida, S., Usami, R., Yoshida, Y. Hum. Biol. (2006) [Pubmed]
  34. Isolation of new probes from Xq12-->q13: an example of the screening of reference libraries with Alu-PCR products from radiation hybrids. Muscatelli, F., Monaco, A.P., Goodfellow, P.N., Hors-Cayla, M.C., Lehrach, H., Fontes, M. Cytogenet. Cell Genet. (1992) [Pubmed]
  35. Human X-Linked genes regionally mapped utilizing X-autosome translocations and somatic cell hybrids. Shows, T.B., Brown, J.A. Proc. Natl. Acad. Sci. U.S.A. (1975) [Pubmed]
  36. Clonal determination by the fragile X (FMR1) and phosphoglycerate kinase (PGK) genes in hematological malignancies. Lee, S.T., McGlennen, R.C., Litz, C.E. Cancer Res. (1994) [Pubmed]
  37. Membrane-bound ATP fuels the Na/K pump. Studies on membrane-bound glycolytic enzymes on inside-out vesicles from human red cell membranes. Mercer, R.W., Dunham, P.B. J. Gen. Physiol. (1981) [Pubmed]
  38. Isolation and DNA sequence of a full-length cDNA clone for human X chromosome-encoded phosphoglycerate kinase. Michelson, A.M., Markham, A.F., Orkin, S.H. Proc. Natl. Acad. Sci. U.S.A. (1983) [Pubmed]
  39. A single amino acid substitution (Asp leads to Asn) in a phosphoglycerate kinase variant (PGK München) associated with enzyme deficiency. Fujii, H., Krietsch, W.K., Yoshida, A. J. Biol. Chem. (1980) [Pubmed]
  40. The role of primer recognition proteins in DNA replication: association with nuclear matrix in HeLa cells. Vishwanatha, J.K., Jindal, H.K., Davis, R.G. J. Cell. Sci. (1992) [Pubmed]
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