Ectonucleotide pyrophosphatase/phosphodiesterase 1

From Wikipedia, the free encyclopedia

Identifiers

ENPP1; M6S1; NPP1; NPPS; PC-1; PCA1; PDNP1

External IDs

OMIM: 173335 MGI: 97370 HomoloGene: 38151

Gene ontology
Molecular Function:	• nucleic acid binding • endonuclease activity • phosphodiesterase I activity • nucleotide diphosphatase activity • hydrolase activity
Cellular Component:	• membrane • integral to membrane
Biological Process:	• generation of precursor metabolites and energy • phosphate metabolic process • response to nutrient • metabolic process • nucleotide metabolic process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_006208 (mRNA)
NP_006199 (protein)

NM_008813 (mRNA)
NP_032839 (protein)

Location

Chr 6: 132.17 - 132.26 Mb

Chr 10: 24.33 - 24.4 Mb

Pubmed search

[1]

[2]

Ectonucleotide pyrophosphatase/phosphodiesterase 1, also known as ENPP1, is a human gene.^[1]

This gene is a member of the ecto-nucleotide pyrophosphatase/phosphodiesterase (ENPP) family. The encoded protein is a type II transmembrane glycoprotein comprising two identical disulfide-bonded subunits. This protein has broad specificity and cleaves a variety of substrates, including phosphodiester bonds of nucleotides and nucleotide sugars and pyrophosphate bonds of nucleotides and nucleotide sugars. This protein may function to hydrolyze nucleoside 5' triphosphates to their corresponding monophosphates and may also hydrolyze diadenosine polyphosphates. Mutations in this gene have been associated with 'idiopathic' infantile arterial calcification, ossification of the posterior longitudinal ligament of the spine (OPLL), and insulin resistance.^[1]

[edit] References

^ ^a ^b Entrez Gene: ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1.

[edit] Further reading

Abate N, Chandalia M, Di Paola R, et al. (2007). "Mechanisms of disease: Ectonucleotide pyrophosphatase phosphodiesterase 1 as a 'gatekeeper' of insulin receptors.". Nature clinical practice. Endocrinology & metabolism 2 (12): 694–701. doi:10.1038/ncpendmet0367. PMID 17143316.
Bacci S, De Cosmo S, Prudente S, Trischitta V (2007). "ENPP1 gene, insulin resistance and related clinical outcomes.". Current opinion in clinical nutrition and metabolic care 10 (4): 403–9. doi:10.1097/MCO.0b013e3281e386c9. PMID 17563456.
Fadini GP, Pauletto P, Avogaro A, Rattazzi M (2007). "The good and the bad in the link between insulin resistance and vascular calcification.". Atherosclerosis 193 (2): 241–4. doi:10.1016/j.atherosclerosis.2007.05.015. PMID 17606264.
Funakoshi I, Kato H, Horie K, et al. (1992). "Molecular cloning of cDNAs for human fibroblast nucleotide pyrophosphatase.". Arch. Biochem. Biophys. 295 (1): 180–7. PMID 1315502.
Buckley MF, Loveland KA, McKinstry WJ, et al. (1990). "Plasma cell membrane glycoprotein PC-1. cDNA cloning of the human molecule, amino acid sequence, and chromosomal location.". J. Biol. Chem. 265 (29): 17506–11. PMID 2211644.
Belli SI, Mercuri FA, Sali A, Goding JW (1995). "Autophosphorylation of PC-1 (alkaline phosphodiesterase I/nucleotide pyrophosphatase) and analysis of the active site.". Eur. J. Biochem. 228 (3): 669–76. PMID 7737162.
Maddux BA, Sbraccia P, Kumakura S, et al. (1995). "Membrane glycoprotein PC-1 and insulin resistance in non-insulin-dependent diabetes mellitus.". Nature 373 (6513): 448–51. doi:10.1038/373448a0. PMID 7830796.
Belli SI, Goding JW (1995). "Biochemical characterization of human PC-1, an enzyme possessing alkaline phosphodiesterase I and nucleotide pyrophosphatase activities.". Eur. J. Biochem. 226 (2): 433–43. PMID 8001561.
Huang R, Rosenbach M, Vaughn R, et al. (1994). "Expression of the murine plasma cell nucleotide pyrophosphohydrolase PC-1 is shared by human liver, bone, and cartilage cells. Regulation of PC-1 expression in osteosarcoma cells by transforming growth factor-beta.". J. Clin. Invest. 94 (2): 560–7. PMID 8040311.
Jin-Hua P, Goding JW, Nakamura H, Sano K (1998). "Molecular cloning and chromosomal localization of PD-Ibeta (PDNP3), a new member of the human phosphodiesterase I genes.". Genomics 45 (2): 412–5. doi:10.1006/geno.1997.4949. PMID 9344668.
Nakamura I, Ikegawa S, Okawa A, et al. (1999). "Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL).". Hum. Genet. 104 (6): 492–7. PMID 10453738.
Pizzuti A, Frittitta L, Argiolas A, et al. (1999). "A polymorphism (K121Q) of the human glycoprotein PC-1 gene coding region is strongly associated with insulin resistance.". Diabetes 48 (9): 1881–4. PMID 10480624.
Andoh K, Piao JH, Terashima K, et al. (1999). "Genomic structure and promoter analysis of the ecto-phosphodiesterase I gene (PDNP3) expressed in glial cells.". Biochim. Biophys. Acta 1446 (3): 213–24. PMID 10524196.
Maddux BA, Goldfine ID (2000). "Membrane glycoprotein PC-1 inhibition of insulin receptor function occurs via direct interaction with the receptor alpha-subunit.". Diabetes 49 (1): 13–9. PMID 10615944.
Rutsch F, Vaingankar S, Johnson K, et al. (2001). "PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification.". Am. J. Pathol. 158 (2): 543–54. PMID 11159191.
Frittitta L, Baratta R, Spampinato D, et al. (2001). "The Q121 PC-1 variant and obesity have additive and independent effects in causing insulin resistance.". J. Clin. Endocrinol. Metab. 86 (12): 5888–91. PMID 11739459.
Koshizuka Y, Kawaguchi H, Ogata N, et al. (2002). "Nucleotide pyrophosphatase gene polymorphism associated with ossification of the posterior longitudinal ligament of the spine.". J. Bone Miner. Res. 17 (1): 138–44. PMID 11771660.
de Azevedo MJ, Dalmáz CA, Caramori ML, et al. (2003). "ACE and PC-1 gene polymorphisms in normoalbuminuric Type 1 diabetic patients: a 10-year prospective study.". J. Diabetes Complicat. 16 (4): 255–62. PMID 12126783.
De Cosmo S, Miscio G, Zucaro L, et al. (2003). "The role of PC-1 and ACE genes in diabetic nephropathy in type 1 diabetic patients: evidence for a polygenic control of kidney disease progression.". Nephrol. Dial. Transplant. 17 (8): 1402–7. PMID 12147786.
Jacobsen P, Grarup N, Tarnow L, et al. (2003). "PC-1 amino acid variant (K121Q) has no impact on progression of diabetic nephropathy in type 1 diabetic patients.". Nephrol. Dial. Transplant. 17 (8): 1408–12. PMID 12147787.