Ectonucleotide pyrophosphatase/phosphodiesterase 1

Ectonucleotide pyrophosphatase/phosphodiesterase 1
Identifiers
Symbols	ENPP1 ; M6S1; NPP1; NPPS; PC-1; PCA1; PDNP1
External IDs	Template:OMIM5 Template:MGI HomoloGene: 38151
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

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

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.

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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)