[1]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Skin fibroblast;
PubMed=2211644 [NCBI, ExPASy, EBI, Israel, Japan]
Buckley M.F.,
Loveland K.A.,
McKinstry W.J.,
Garson O.M.,
Goding J.W.;
"Plasma cell membrane glycoprotein PC-1. cDNA cloning of the human molecule, amino acid sequence, and chromosomal location.";
J. Biol. Chem. 265:17506-17511(1990).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Skin fibroblast;
DOI=10.1016/0003-9861(92)90504-P; PubMed=1315502 [NCBI, ExPASy, EBI, Israel, Japan]
Funakoshi I.,
Kato H.,
Horie K.,
Yano T.,
Hori Y.,
Kobayashi H.,
Inoue T.,
Suzuki H.,
Fukui S.,
Tsukahara M.,
Kajii T.,
Yamashina I.;
"Molecular cloning of cDNAs for human fibroblast nucleotide pyrophosphatase.";
Arch. Biochem. Biophys. 295:180-187(1992).
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[3]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Bozzali M.,
Pizzuti A.,
Trischitta E.;
"Genomic structure of the human PC1 gene.";
Submitted (APR-1999) to the EMBL/GenBank/DDBJ databases.
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature02055; PubMed=14574404 [NCBI, ExPASy, EBI, Israel, Japan]
Mungall A.J.,
Palmer S.A.,
Sims S.K.,
Edwards C.A.,
Ashurst J.L.,
Wilming L.,
Jones M.C.,
Horton R.,
Hunt S.E.,
Scott C.E.,
Gilbert J.G.R.,
Clamp M.E.,
Bethel G.,
Milne S.,
Ainscough R.,
Almeida J.P.,
Ambrose K.D.,
Andrews T.D.,
Ashwell R.I.S., ![]()
Babbage A.K.,
Bagguley C.L.,
Bailey J.,
Banerjee R.,
Barker D.J.,
Barlow K.F.,
Bates K.,
Beare D.M.,
Beasley H.,
Beasley O.,
Bird C.P.,
Blakey S.E.,
Bray-Allen S.,
Brook J.,
Brown A.J.,
Brown J.Y.,
Burford D.C.,
Burrill W.,
Burton J.,
Carder C.,
Carter N.P.,
Chapman J.C.,
Clark S.Y.,
Clark G.,
Clee C.M.,
Clegg S.,
Cobley V.,
Collier R.E.,
Collins J.E.,
Colman L.K.,
Corby N.R.,
Coville G.J.,
Culley K.M.,
Dhami P.,
Davies J.,
Dunn M.,
Earthrowl M.E.,
Ellington A.E.,
Evans K.A.,
Faulkner L.,
Francis M.D.,
Frankish A.,
Frankland J.,
French L.,
Garner P.,
Garnett J.,
Ghori M.J.,
Gilby L.M.,
Gillson C.J.,
Glithero R.J.,
Grafham D.V.,
Grant M.,
Gribble S.,
Griffiths C.,
Griffiths M.N.D.,
Hall R.,
Halls K.S.,
Hammond S.,
Harley J.L.,
Hart E.A.,
Heath P.D.,
Heathcott R.,
Holmes S.J.,
Howden P.J.,
Howe K.L.,
Howell G.R.,
Huckle E.,
Humphray S.J.,
Humphries M.D.,
Hunt A.R.,
Johnson C.M.,
Joy A.A.,
Kay M.,
Keenan S.J.,
Kimberley A.M.,
King A.,
Laird G.K.,
Langford C.,
Lawlor S.,
Leongamornlert D.A.,
Leversha M.,
Lloyd C.R.,
Lloyd D.M.,
Loveland J.E.,
Lovell J.,
Martin S.,
Mashreghi-Mohammadi M.,
Maslen G.L.,
Matthews L.,
McCann O.T.,
McLaren S.J.,
McLay K.,
McMurray A.,
Moore M.J.F.,
Mullikin J.C.,
Niblett D.,
Nickerson T.,
Novik K.L.,
Oliver K.,
Overton-Larty E.K.,
Parker A.,
Patel R.,
Pearce A.V.,
Peck A.I.,
Phillimore B.J.C.T.,
Phillips S.,
Plumb R.W.,
Porter K.M.,
Ramsey Y.,
Ranby S.A.,
Rice C.M.,
Ross M.T.,
Searle S.M.,
Sehra H.K.,
Sheridan E.,
Skuce C.D.,
Smith S.,
Smith M.,
Spraggon L.,
Squares S.L.,
Steward C.A.,
Sycamore N.,
Tamlyn-Hall G.,
Tester J.,
Theaker A.J.,
Thomas D.W.,
Thorpe A.,
Tracey A.,
Tromans A.,
Tubby B.,
Wall M.,
Wallis J.M.,
West A.P.,
White S.S.,
Whitehead S.L.,
Whittaker H.,
Wild A.,
Willey D.J.,
Wilmer T.E.,
Wood J.M.,
Wray P.W.,
Wyatt J.C.,
Young L.,
Younger R.M.,
Bentley D.R.,
Coulson A.,
Durbin R.M.,
Hubbard T.,
Sulston J.E.,
Dunham I.,
Rogers J.,
Beck S.;
"The DNA sequence and analysis of human chromosome 6.";
Nature 425:805-811(2003).
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[5]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Placenta;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[6]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 145-185, AND VARIANT GLN-173.
PubMed=10480624 [NCBI, ExPASy, EBI, Israel, Japan]
Pizzuti A.,
Frittitta L.,
Argiolas A.,
Baratta R.,
Goldfine I.D.,
Bozzali M.,
Ercolino T.,
Scarlato G.,
Iacoviello L.,
Vigneri R.,
Tassi V.,
Trischitta V.;
"A polymorphism (K121Q) of the human glycoprotein PC-1 gene coding region is strongly associated with insulin resistance.";
Diabetes 48:1881-1884(1999).
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[7]
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CHARACTERIZATION.
PubMed=8001561 [NCBI, ExPASy, EBI, Israel, Japan]
Belli S.I.,
Goding J.W.;
"Biochemical characterization of human PC-1, an enzyme possessing alkaline phosphodiesterase I and nucleotide pyrophosphatase activities.";
Eur. J. Biochem. 226:433-443(1994).
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[8]
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ACTIVE SITE.
PubMed=7737162 [NCBI, ExPASy, EBI, Israel, Japan]
Belli S.I.,
Mercuri F.A.,
Sali A.,
Goding J.W.;
"Autophosphorylation of PC-1 (alkaline phosphodiesterase I/nucleotide pyrophosphatase) and analysis of the active site.";
Eur. J. Biochem. 228:669-676(1995).
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[9]
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TISSUE SPECIFICITY.
DOI=10.1006/geno.1997.4949; PubMed=9344668 [NCBI, ExPASy, EBI, Israel, Japan]
Piao J.-H.,
Goding J.W.,
Nakamura H.,
Sano K.;
"Molecular cloning and chromosomal localization of PD-Ibeta (PDNP3), a new member of the human phosphodiesterase I genes.";
Genomics 45:412-415(1997).
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[10]
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CHARACTERIZATION, AND SUBCELLULAR LOCATION.
PubMed=11598187 [NCBI, ExPASy, EBI, Israel, Japan]
Bello V.,
Goding J.W.,
Greengrass V.,
Sali A.,
Dubljevic V.,
Lenoir C.,
Trugnan G.,
Maurice M.;
"Characterization of a di-leucine-based signal in the cytoplasmic tail of the nucleotide-pyrophosphatase NPP1 that mediates basolateral targeting but not endocytosis.";
Mol. Biol. Cell 12:3004-3015(2001).
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[11]
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SUBCELLULAR LOCATION.
DOI=10.1016/j.canlet.2003.11.002; PubMed=15072822 [NCBI, ExPASy, EBI, Israel, Japan]
Yano Y.,
Hayashi Y.,
Sano K.,
Nagano H.,
Nakaji M.,
Seo Y.,
Ninomiya T.,
Yoon S.,
Yokozaki H.,
Kasuga M.;
"Expression and localization of ecto-nucleotide pyrophosphatase/phosphodiesterase I-1 (E-NPP1/PC-1) and -3 (E-NPP3/CD203c/PD-Ibeta/B10/gp130(RB13-6)) in inflammatory and neoplastic bile duct diseases.";
Cancer Lett. 207:139-147(2004).
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[12]
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VARIANTS OPLL PRO-91 AND PHE-287, AND VARIANTS GLN-173; HIS-268 AND PRO-779.
DOI=10.1007/s004390050993; PubMed=10453738 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL).";
Hum. Genet. 104:492-497(1999).
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[13]
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VARIANTS IIAC PHE-579 AND CYS-774.
DOI=10.1038/ng1221; PubMed=12881724 [NCBI, ExPASy, EBI, Israel, Japan]
Rutsch F.,
Ruf N.,
Vaingankar S.,
Toliat M.R.,
Suk A.,
Hohne W.,
Schauer G.,
Lehmann M.,
Roscioli T.,
Schnabel D.,
Epplen J.T.,
Knisely A.,
Superti-Furga A.,
McGill J.,
Filippone M.,
Sinaiko A.R.,
Vallance H.,
Hinrichs B.,
Smith W., ![]()
Ferre M.,
Terkeltaub R.,
Nuernberg P.;
"Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.";
Nat. Genet. 34:379-381(2003).
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[14]
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VARIANTS IIAC VAL-342 AND PHE-371.
DOI=10.1002/ajmg.a.30800; PubMed=15940697 [NCBI, ExPASy, EBI, Israel, Japan]
Cheng K.-S.,
Chen M.-R.,
Ruf N.,
Lin S.-P.,
Rutsch F.;
"Generalized arterial calcification of infancy: different clinical courses in two affected siblings.";
Am. J. Med. Genet. A 136:210-213(2005).
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[15]
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VARIANT GLN-173, AND ASSOCIATION WITH OBESITY, GLUCOSE INTOLERANCE AND NIDDM.
DOI=10.2337/diabetes.54.10.3021; PubMed=16186408 [NCBI, ExPASy, EBI, Israel, Japan]
Bacci S.,
Ludovico O.,
Prudente S.,
Zhang Y.Y.,
Di Paola R.,
Mangiacotti D.,
Rauseo A.,
Nolan D.,
Duffy J.,
Fini G.,
Salvemini L.,
Amico C.,
Vigna C.,
Pellegrini F.,
Menzaghi C.,
Doria A.,
Trischitta V.;
"The K121Q polymorphism of the ENPP1/PC-1 gene is associated with insulin resistance/atherogenic phenotypes, including earlier onset of type 2 diabetes and myocardial infarction.";
Diabetes 54:3021-3025(2005).
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