PC 1

Summary

Gene Symbol: PC 1
Description: ectonucleotide pyrophosphatase/phosphodiesterase 1
Alias: ARHR2, COLED, M6S1, NPP1, NPPS, PC-1, PCA1, PDNP1, ectonucleotide pyrophosphatase/phosphodiesterase family member 1, E-NPP 1, Ly-41 antigen, alkaline phosphodiesterase 1, membrane component, chromosome 6, surface marker 1, phosphodiesterase I/nucleotide pyrophosphatase 1, plasma-cell membrane glycoprotein 1, plasma-cell membrane glycoprotein PC-1
Species: human
Products:     PC 1

Top Publications

  1. Keene K, Mychaleckyj J, Smith S, Leak T, Perlegas P, Langefeld C, et al. Association of the distal region of the ectonucleotide pyrophosphatase/phosphodiesterase 1 gene with type 2 diabetes in an African-American population enriched for nephropathy. Diabetes. 2008;57:1057-62 pubmed publisher
    ....
  2. Abate N, Carulli L, Cabo Chan A, Chandalia M, Snell P, Grundy S. Genetic polymorphism PC-1 K121Q and ethnic susceptibility to insulin resistance. J Clin Endocrinol Metab. 2003;88:5927-34 pubmed
    ..This finding indicates the need for expanded studies on the association between PC-1 K121Q and insulin resistance in a representative sample of the Asian Indian population. ..
  3. Maddux B, Goldfine I. Membrane glycoprotein PC-1 inhibition of insulin receptor function occurs via direct interaction with the receptor alpha-subunit. Diabetes. 2000;49:13-9 pubmed
    ..These studies also raise the possibility that monoclonal antibodies to PC-1 could be a new treatment for insulin resistance. ..
  4. Liang J, Fu M, Ciociola E, Chandalia M, Abate N. Role of ENPP1 on adipocyte maturation. PLoS ONE. 2007;2:e882 pubmed
    ..We identify ENPP1 as a novel mechanism of defective adipocyte maturation. This mechanism could contribute to the pathogenesis of insulin resistance in absence of obesity. ..
  5. Buckley M, Loveland K, McKinstry W, Garson O, Goding J. Plasma cell membrane glycoprotein PC-1. cDNA cloning of the human molecule, amino acid sequence, and chromosomal location. J Biol Chem. 1990;265:17506-11 pubmed
    ..Southern blots suggest a single copy gene. In situ chromosomal hybridization localizes the gene for human PC-1 to chromosome 6q22-q23, a common site for deletions in human lymphoid neoplasia. ..
  6. Levy Litan V, Hershkovitz E, Avizov L, Leventhal N, Bercovich D, Chalifa Caspi V, et al. Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. Am J Hum Genet. 2010;86:273-8 pubmed publisher
    ..Our surprising result suggests a different pathway involved in the generation of ARHR and possible additional functions for ENPP1. ..
  7. Bacci S, Rizza S, Prudente S, Spoto B, Powers C, Facciorusso A, et al. The ENPP1 Q121 variant predicts major cardiovascular events in high-risk individuals: evidence for interaction with obesity in diabetic patients. Diabetes. 2011;60:1000-7 pubmed publisher
    ..The ENPP1 K121Q polymorphism is an independent predictor of major cardiovascular events in high-risk individuals. In type 2 diabetes, this effect is exacerbated by obesity. Future larger studies are needed to confirm our finding. ..
  8. Lorenz Depiereux B, Schnabel D, Tiosano D, Häusler G, Strom T. Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. Am J Hum Genet. 2010;86:267-72 pubmed publisher
    ..Surprisingly, ENPP1 loss-of-function mutations have previously been described in generalized arterial calcification of infancy, suggesting an as yet elusive mechanism that balances arterial calcification with bone mineralization. ..
  9. Wu L, Hsieh C, Pei D, Hung Y, Kuo S, Lin E. Association and interaction analyses of genetic variants in ADIPOQ, ENPP1, GHSR, PPARgamma and TCF7L2 genes for diabetic nephropathy in a Taiwanese population with type 2 diabetes. Nephrol Dial Transplant. 2009;24:3360-6 pubmed publisher
    ..The results suggest that the SNPs from the T2D-related genes may contribute to the risk of DN in T2D independently and/or in an interactive manner in Taiwanese T2D patients. ..
  10. Bouhaha R, Meyre D, Kamoun H, Ennafaa H, Vaillant E, Sassi R, et al. Effect of ENPP1/PC-1-K121Q and PPARgamma-Pro12Ala polymorphisms on the genetic susceptibility to T2D in the Tunisian population. Diabetes Res Clin Pract. 2008;81:278-83 pubmed publisher
    ..25-0.97], p=0.02). In conclusion, our findings support the hypothesis that ENPP1-121Q is involved in the genetic susceptibility of T2D in the Tunisian population, while the PPARgamma-12Ala allele may confer protection against overweight. ..

Detail Information

Publications62

  1. Keene K, Mychaleckyj J, Smith S, Leak T, Perlegas P, Langefeld C, et al. Association of the distal region of the ectonucleotide pyrophosphatase/phosphodiesterase 1 gene with type 2 diabetes in an African-American population enriched for nephropathy. Diabetes. 2008;57:1057-62 pubmed publisher
    ....
  2. Abate N, Carulli L, Cabo Chan A, Chandalia M, Snell P, Grundy S. Genetic polymorphism PC-1 K121Q and ethnic susceptibility to insulin resistance. J Clin Endocrinol Metab. 2003;88:5927-34 pubmed
    ..This finding indicates the need for expanded studies on the association between PC-1 K121Q and insulin resistance in a representative sample of the Asian Indian population. ..
  3. Maddux B, Goldfine I. Membrane glycoprotein PC-1 inhibition of insulin receptor function occurs via direct interaction with the receptor alpha-subunit. Diabetes. 2000;49:13-9 pubmed
    ..These studies also raise the possibility that monoclonal antibodies to PC-1 could be a new treatment for insulin resistance. ..
  4. Liang J, Fu M, Ciociola E, Chandalia M, Abate N. Role of ENPP1 on adipocyte maturation. PLoS ONE. 2007;2:e882 pubmed
    ..We identify ENPP1 as a novel mechanism of defective adipocyte maturation. This mechanism could contribute to the pathogenesis of insulin resistance in absence of obesity. ..
  5. Buckley M, Loveland K, McKinstry W, Garson O, Goding J. Plasma cell membrane glycoprotein PC-1. cDNA cloning of the human molecule, amino acid sequence, and chromosomal location. J Biol Chem. 1990;265:17506-11 pubmed
    ..Southern blots suggest a single copy gene. In situ chromosomal hybridization localizes the gene for human PC-1 to chromosome 6q22-q23, a common site for deletions in human lymphoid neoplasia. ..
  6. Levy Litan V, Hershkovitz E, Avizov L, Leventhal N, Bercovich D, Chalifa Caspi V, et al. Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. Am J Hum Genet. 2010;86:273-8 pubmed publisher
    ..Our surprising result suggests a different pathway involved in the generation of ARHR and possible additional functions for ENPP1. ..
  7. Bacci S, Rizza S, Prudente S, Spoto B, Powers C, Facciorusso A, et al. The ENPP1 Q121 variant predicts major cardiovascular events in high-risk individuals: evidence for interaction with obesity in diabetic patients. Diabetes. 2011;60:1000-7 pubmed publisher
    ..The ENPP1 K121Q polymorphism is an independent predictor of major cardiovascular events in high-risk individuals. In type 2 diabetes, this effect is exacerbated by obesity. Future larger studies are needed to confirm our finding. ..
  8. Lorenz Depiereux B, Schnabel D, Tiosano D, Häusler G, Strom T. Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. Am J Hum Genet. 2010;86:267-72 pubmed publisher
    ..Surprisingly, ENPP1 loss-of-function mutations have previously been described in generalized arterial calcification of infancy, suggesting an as yet elusive mechanism that balances arterial calcification with bone mineralization. ..
  9. Wu L, Hsieh C, Pei D, Hung Y, Kuo S, Lin E. Association and interaction analyses of genetic variants in ADIPOQ, ENPP1, GHSR, PPARgamma and TCF7L2 genes for diabetic nephropathy in a Taiwanese population with type 2 diabetes. Nephrol Dial Transplant. 2009;24:3360-6 pubmed publisher
    ..The results suggest that the SNPs from the T2D-related genes may contribute to the risk of DN in T2D independently and/or in an interactive manner in Taiwanese T2D patients. ..
  10. Bouhaha R, Meyre D, Kamoun H, Ennafaa H, Vaillant E, Sassi R, et al. Effect of ENPP1/PC-1-K121Q and PPARgamma-Pro12Ala polymorphisms on the genetic susceptibility to T2D in the Tunisian population. Diabetes Res Clin Pract. 2008;81:278-83 pubmed publisher
    ..25-0.97], p=0.02). In conclusion, our findings support the hypothesis that ENPP1-121Q is involved in the genetic susceptibility of T2D in the Tunisian population, while the PPARgamma-12Ala allele may confer protection against overweight. ..
  11. Jacobsen P, Grarup N, Tarnow L, Parving H, Pedersen O. PC-1 amino acid variant (K121Q) has no impact on progression of diabetic nephropathy in type 1 diabetic patients. Nephrol Dial Transplant. 2002;17:1408-12 pubmed
    ..27], whereas the PC-1 genotype did not contribute. Our study did not reveal an association between the PC-1 amino acid variant K121Q and progression of diabetic nephropathy. ..
  12. Lee J, Choi Y, Seo H, Jeon J, Jeong J, Moon S, et al. Impact of ENPP1 and MMP3 gene polymorphisms on aortic calcification in patients with type 2 diabetes in a Korean population. Diabetes Res Clin Pract. 2010;88:87-96 pubmed publisher
    ..001). Our study demonstrates that the ENPP1 K121Q and MMP3 -709A>G polymorphisms are associated with T2D, and that the ENPP1 Q allele is associated with increased aortic arch calcification in a Korean population. ..
  13. Cauchi S, Nead K, Choquet H, Horber F, Potoczna N, Balkau B, et al. The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies. BMC Med Genet. 2008;9:45 pubmed publisher
    ....