“Ectonucleotide pyrophosphatase/phosphodiesterase 1”的意思、由来-开放百科全书

Function

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 Generalized arterial calcification of infancy, ossification of the posterior longitudinal ligament of the spine (OPLL), Hypophosphatemic rickets autosomal recessive 2 (ARHR2), and insulin resistance.^[2]

Interactions

Ectonucleotide pyrophosphatase/phosphodiesterase 1 has been shown to interact with Insulin receptor.^[3]

References

1. ^{{cite journal | vauthors = Funakoshi I, Kato H, Horie K, Yano T, Hori Y, Kobayashi H, Inoue T, Suzuki H, Fukui S, Tsukahara M | title = Molecular cloning of cDNAs for human fibroblast nucleotide pyrophosphatase | journal = Arch Biochem Biophys | volume = 295 | issue = 1 | pages = 180–7 | date = June 1992 | pmid = 1315502 | pmc = | doi = 10.1016/0003-9861(92)90504-P }}
2. ^¹{{cite web | title = Entrez Gene: ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5167| accessdate = }}
3. ^{{cite journal | vauthors = Maddux BA, Goldfine ID | title = Membrane glycoprotein PC-1 inhibition of insulin receptor function occurs via direct interaction with the receptor alpha-subunit | language = | journal = Diabetes | volume = 49 | issue = 1 | pages = 13–9 | date = January 2000 | pmid = 10615944 | doi = 10.2337/diabetes.49.1.13 }}

Further reading

{{cite journal | vauthors = Abate N, Chandalia M, Di Paola R, Foster DW, Grundy SM, Trischitta V | title = Mechanisms of disease: Ectonucleotide pyrophosphatase phosphodiesterase 1 as a 'gatekeeper' of insulin receptors | journal = Nature Clinical Practice Endocrinology & Metabolism | volume = 2 | issue = 12 | pages = 694–701 | year = 2007 | pmid = 17143316 | doi = 10.1038/ncpendmet0367 }}

{{cite journal | vauthors = Bacci S, De Cosmo S, Prudente S, Trischitta V | title = ENPP1 gene, insulin resistance and related clinical outcomes | journal = Current Opinion in Clinical Nutrition and Metabolic Care | volume = 10 | issue = 4 | pages = 403–9 | year = 2007 | pmid = 17563456 | doi = 10.1097/MCO.0b013e3281e386c9 }}

{{cite journal | vauthors = Fadini GP, Pauletto P, Avogaro A, Rattazzi M | title = The good and the bad in the link between insulin resistance and vascular calcification | journal = Atherosclerosis | volume = 193 | issue = 2 | pages = 241–4 | year = 2007 | pmid = 17606264 | doi = 10.1016/j.atherosclerosis.2007.05.015 }}

{{cite journal | vauthors = Buckley MF, Loveland KA, McKinstry WJ, Garson OM, Goding JW | title = Plasma cell membrane glycoprotein PC-1. cDNA cloning of the human molecule, amino acid sequence, and chromosomal location | journal = J. Biol. Chem. | volume = 265 | issue = 29 | pages = 17506–11 | year = 1990 | pmid = 2211644 | doi = }}

{{cite journal | vauthors = Belli SI, Mercuri FA, Sali A, Goding JW | title = Autophosphorylation of PC-1 (alkaline phosphodiesterase I/nucleotide pyrophosphatase) and analysis of the active site | journal = Eur. J. Biochem. | volume = 228 | issue = 3 | pages = 669–76 | year = 1995 | pmid = 7737162 | doi = 10.1111/j.1432-1033.1995.tb20308.x }}

{{cite journal | vauthors = Maddux BA, Sbraccia P, Kumakura S, Sasson S, Youngren J, Fisher A, Spencer S, Grupe A, Henzel W, Stewart TA | title = Membrane glycoprotein PC-1 and insulin resistance in non-insulin-dependent diabetes mellitus | journal = Nature | volume = 373 | issue = 6513 | pages = 448–51 | year = 1995 | pmid = 7830796 | doi = 10.1038/373448a0 }}

{{cite journal | vauthors = Belli SI, Goding JW | title = Biochemical characterization of human PC-1, an enzyme possessing alkaline phosphodiesterase I and nucleotide pyrophosphatase activities | journal = Eur. J. Biochem. | volume = 226 | issue = 2 | pages = 433–43 | year = 1995 | pmid = 8001561 | doi = 10.1111/j.1432-1033.1994.tb20068.x }}

{{cite journal | vauthors = Huang R, Rosenbach M, Vaughn R, Provvedini D, Rebbe N, Hickman S, Goding J, Terkeltaub R | title = 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 | journal = J. Clin. Invest. | volume = 94 | issue = 2 | pages = 560–7 | year = 1994 | pmid = 8040311 | pmc = 296131 | doi = 10.1172/JCI117370 }}

{{cite journal | vauthors = Jin-Hua P, Goding JW, Nakamura H, Sano K | title = Molecular cloning and chromosomal localization of PD-Ibeta (PDNP3), a new member of the human phosphodiesterase I genes | journal = Genomics | volume = 45 | issue = 2 | pages = 412–5 | year = 1998 | pmid = 9344668 | doi = 10.1006/geno.1997.4949 }}

{{cite journal | vauthors = Nakamura I, Ikegawa S, Okawa A, Okuda S, Koshizuka Y, Kawaguchi H, Nakamura K, Koyama T, Goto S, Toguchida J, Matsushita M, Ochi T, Takaoka K, Nakamura Y | title = Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL) | journal = Hum. Genet. | volume = 104 | issue = 6 | pages = 492–7 | year = 1999 | pmid = 10453738 | doi = 10.1007/s004390050993 }}

{{cite journal | vauthors = Pizzuti A, Frittitta L, Argiolas A, Baratta R, Goldfine ID, Bozzali M, Ercolino T, Scarlato G, Iacoviello L, Vigneri R, Tassi V, Trischitta V | title = A polymorphism (K121Q) of the human glycoprotein PC-1 gene coding region is strongly associated with insulin resistance | journal = Diabetes | volume = 48 | issue = 9 | pages = 1881–4 | year = 1999 | pmid = 10480624 | doi = 10.2337/diabetes.48.9.1881 }}

{{cite journal | vauthors = Andoh K, Piao JH, Terashima K, Nakamura H, Sano K | title = Genomic structure and promoter analysis of the ecto-phosphodiesterase I gene (PDNP3) expressed in glial cells | journal = Biochim. Biophys. Acta | volume = 1446 | issue = 3 | pages = 213–24 | year = 1999 | pmid = 10524196 | doi = 10.1016/s0167-4781(99)00090-1 }}

{{cite journal | vauthors = Maddux BA, Goldfine ID | title = Membrane glycoprotein PC-1 inhibition of insulin receptor function occurs via direct interaction with the receptor alpha-subunit | journal = Diabetes | volume = 49 | issue = 1 | pages = 13–9 | year = 2000 | pmid = 10615944 | doi = 10.2337/diabetes.49.1.13 }}

{{cite journal | vauthors = Rutsch F, Vaingankar S, Johnson K, Goldfine I, Maddux B, Schauerte P, Kalhoff H, Sano K, Boisvert WA, Superti-Furga A, Terkeltaub R | title = PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification | journal = Am. J. Pathol. | volume = 158 | issue = 2 | pages = 543–54 | year = 2001 | pmid = 11159191 | pmc = 1850320 | doi = 10.1016/S0002-9440(10)63996-X }}

{{cite journal | vauthors = Frittitta L, Baratta R, Spampinato D, Di Paola R, Pizzuti A, Vigneri R, Trischitta V | title = The Q121 PC-1 variant and obesity have additive and independent effects in causing insulin resistance | journal = J. Clin. Endocrinol. Metab. | volume = 86 | issue = 12 | pages = 5888–91 | year = 2001 | pmid = 11739459 | doi = 10.1210/jc.86.12.5888 }}

{{cite journal | vauthors = Koshizuka Y, Kawaguchi H, Ogata N, Ikeda T, Mabuchi A, Seichi A, Nakamura Y, Nakamura K, Ikegawa S | title = Nucleotide pyrophosphatase gene polymorphism associated with ossification of the posterior longitudinal ligament of the spine | journal = J. Bone Miner. Res. | volume = 17 | issue = 1 | pages = 138–44 | year = 2002 | pmid = 11771660 | doi = 10.1359/jbmr.2002.17.1.138 }}

{{cite journal | vauthors = de Azevedo MJ, Dalmáz CA, Caramori ML, Pecis M, Esteves JF, Maia AL, Gross JL | title = ACE and PC-1 gene polymorphisms in normoalbuminuric Type 1 diabetic patients: a 10-year prospective study | journal = J. Diabetes Complicat. | volume = 16 | issue = 4 | pages = 255–62 | year = 2003 | pmid = 12126783 | doi = }}

{{cite journal | vauthors = De Cosmo S, Miscio G, Zucaro L, Margaglione M, Argiolas A, Thomas S, Piras G, Trevisan R, Perin PC, Bacci S, Frittitta L, Pizzuti A, Tassi V, Di Minno G, Viberti G, Trischitta V | title = 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 | journal = Nephrol. Dial. Transplant. | volume = 17 | issue = 8 | pages = 1402–7 | year = 2003 | pmid = 12147786 | doi = 10.1093/ndt/17.8.1402 }}

{{cite journal | vauthors = Jacobsen P, Grarup N, Tarnow L, Parving HH, Pedersen O | title = PC-1 amino acid variant (K121Q) has no impact on progression of diabetic nephropathy in type 1 diabetic patients | journal = Nephrol. Dial. Transplant. | volume = 17 | issue = 8 | pages = 1408–12 | year = 2003 | pmid = 12147787 | doi = 10.1093/ndt/17.8.1408 }}