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Index > Protein center > ENPP1(Gene name) > Human
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  • ENPP1 (Gene name),
  • Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (Protein name ),  ENPP1_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Gene name:
    ENPP1(M6S1;NPPS;PC1;PDNP1);
    Protein name:
    Ectonucleotide pyrophosphatase/phosphodiesterase family member 1(E-NPP 1);
    Alternative:
    Phosphodiesterase I/nucleotide pyrophosphatase 1;Membrane component chromosome 6 surface marker 1;Plasma-cell membrane glycoprotein PC-1;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Homodimer; disulfide-linked.
    Function:
    Involved primarily in ATP hydrolysis at the plasma membrane. Plays a role in regulating pyrophosphate levels, and functions in bone mineralization and soft tissue calcification. In vitro, has a broad specificity, hydrolyzing other nucleoside 5' triphosphates such as GTP, CTP, TTP and UTP to their corresponding monophosphates with release of pyrophosphate and diadenosine polyphosphates, and also 3',5'-cAMP to AMP. May also be involved in the regulation of the availability of nucleotide sugars in the endoplasmic reticulum and Golgi, and the regulation of purinergic signaling. Appears to modulate insulin sensitivity.
    Subcellular Location:
    Membrane Single-pass type II membrane protein Basolateral cell membrane Single-pass type II membrane protein Targeted to the basolateral membrane in polarized epithelial cells and in hepatocytes, and to matrix vesicles in osteoblasts. In bile duct cells and cancer cells, located to the apical cytoplasmic side.
    Protein Attributes:
    Sequence length:
    925
    Sequence:
    50:
    MERDGCAGGG | SRGGEGGRAP | REGPAGNGRD | RGRSHAAEAP | GDPQAAASLL | 
    100:
    APMDVGEEPL | EKAARARTAK | DPNTYKVLSL | VLSVCVLTTI | LGCIFGLKPS | 
    150:
    CAKEVKSCKG | RCFERTFGNC | RCDAACVELG | NCCLDYQETC | IEPEHIWTCN | 
    200:
    KFRCGEKRLT | RSLCACSDDC | KDKGDCCINY | SSVCQGEKSW | VEEPCESINE | 
    250:
    PQCPAGFETP | PTLLFSLDGF | RAEYLHTWGG | LLPVISKLKK | CGTYTKNMRP | 
    300:
    VYPTKTFPNH | YSIVTGLYPE | SHGIIDNKMY | DPKMNASFSL | KSKEKFNPEW | 
    350:
    YKGEPIWVTA | KYQGLKSGTF | FWPGSDVEIN | GIFPDIYKMY | NGSVPFEERI | 
    400:
    LAVLQWLQLP | KDERPHFYTL | YLEEPDSSGH | SYGPVSSEVI | KALQRVDGMV | 
    450:
    GMLMDGLKEL | NLHRCLNLIL | ISDHGMEQGS | CKKYIYLNKY | LGDVKNIKVI | 
    500:
    YGPAARLRPS | DVPDKYYSFN | YEGIARNLSC | REPNQHFKPY | LKHFLPKRLH | 
    550:
    FAKSDRIEPL | TFYLDPQWQL | ALNPSERKYC | GSGFHGSDNV | FSNMQALFVG | 
    600:
    YGPGFKHGIE | ADTFENIEVY | NLMCDLLNLT | PAPNNGTHGS | LNHLLKNPVY | 
    650:
    TPKHPKEVHP | LVQCPFTRNP | RDNLGCSCNP | SILPIEDFQT | QFNLTVAEEK | 
    700:
    IIKHETLPYG | RPRVLQKENT | ICLLSQHQFM | SGYSQDILMP | LWTSYTVDRN | 
    750:
    DSFSTEDFSN | CLYQDFRIPL | SPVHKCSFYK | NNTKVSYGFL | SPPQLNKNSS | 
    800:
    GIYSEALLTT | NIVPMYQSFQ | VIWRYFHDTL | LRKYAEERNG | VNVVSGPVFD | 
    850:
    FDYDGRCDSL | ENLRQKRRVI | RNQEILIPTH | FFIVLTSCKD | TSQTPLHCEN | 
    900:
    LDTLAFILPH | RTDNSESCVH | GKHDSSWVEE | LLMLHRARIT | DVEHITGLSF | 
    925:
    YQQRKEPVSD | ILKLKTHLPT | FSQED
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
    Please Sign in.
    Related Databases
    KEGG:
    Pfam:
    String:
    MIM:
    SMR:
    UniGene:
    Uniprot:
     
    FOR
    ELISA Kit for Human E-NPP 1
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    ELISA Kit for Human E-NPP 1
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    ELISA Kit for Human E-NPP 1
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    CLIA Kit for Human E-NPP 1
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    CLIA Kit for Human E-NPP 1
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    CLIA Kit for Human E-NPP 1
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    Polyclonal Antibody for Human E-NPP 1
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    P1032Rb-h
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    40ug/0.2ml
    Polyclonal Antibody for Human E-NPP 1
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    P1032Rb-m
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human E-NPP 1
    Cat.:
    P1032Rb-r
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    Packing:
    40ug/0.2ml
    Monoclonal Antibody for Human E-NPP 1
    Monoclonal Antibody for Human E-NPP 1
    Monoclonal Antibody for Human E-NPP 1
    Protein for Human E-NPP 1
    Protein for Human E-NPP 1
    Protein for Human E-NPP 1

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    References
    1. 1.
      "Plasma cell membrane glycoprotein PC-1. cDNA cloning of the human molecule, amino acid sequence, and chromosomal location."
      Buckley M.F. , Loveland K.A. , McKinstry W.J. , Garson O.M. , Goding J.W.
      J. Biol. Chem.265:17506-17511(1990) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA]
      tissue: Skin fibroblast.
    2. 2.
      "Molecular cloning of cDNAs for human fibroblast nucleotide pyrophosphatase."
      Funakoshi I. , Kato H. , Horie K. , Yano T. , Hori Y. , Kobayashi H. , Inoue T. , Suzuki H. , Fukui S. , Tsukahara M. , Kajii T. , Yamashina I.
      Arch. Biochem. Biophys.295:180-187(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA];PARTIAL PROTEIN SEQUENCE
      tissue: Skin fibroblast.
    3. 3.
      "Genomic structure of the human PC1 gene."
      Bozzali M. , Pizzuti A. , Trischitta E.
      Submitted (1999-04) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
    4. 4.
      "The DNA sequence and analysis of human chromosome 6."
      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. , more...
      Nature425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    5. 5.
      "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
      tissue: Placenta.
    6. 6.
      "A polymorphism (K121Q) of the human glycoprotein PC-1 gene coding region is strongly associated with insulin resistance."
      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.
      Diabetes48:1881-1884(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 145-185;VARIANT GLN-173
    7. 7.
      "Biochemical characterization of human PC-1, an enzyme possessing alkaline phosphodiesterase I and nucleotide pyrophosphatase activities."
      Belli S.I. , Goding J.W.
      Eur. J. Biochem.226:433-443(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBCELLULAR LOCATION;TOPOLOGY;CATALYTIC ACTIVITY;FUNCTION;GLYCOSYLATION
    8. 8.
      "Autophosphorylation of PC-1 (alkaline phosphodiesterase I/nucleotide pyrophosphatase) and analysis of the active site."
      Belli S.I. , Mercuri F.A. , Sali A. , Goding J.W.
      Eur. J. Biochem.228:669-676(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ACTIVE SITE
    9. 9.
      "Molecular cloning and chromosomal localization of PD-Ibeta (PDNP3), a new member of the human phosphodiesterase I genes."
      Piao J.-H. , Goding J.W. , Nakamura H. , Sano K.
      Genomics45:412-415(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: TISSUE SPECIFICITY
    10. 10.
      "Membrane glycoprotein PC-1 inhibition of insulin receptor function occurs via direct interaction with the receptor alpha-subunit."
      Maddux B.A. , Goldfine I.D.
      Diabetes49:13-19(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH INSR;FUNCTION IN INHIBITION OF INSR KINASE ACTIVITY
    11. 11.
      "Characterization of a di-leucine-based signal in the cytoplasmic tail of the nucleotide-pyrophosphatase NPP1 that mediates basolateral targeting but not endocytosis."
      Bello V. , Goding J.W. , Greengrass V. , Sali A. , Dubljevic V. , Lenoir C. , Trugnan G. , Maurice M.
      Mol. Biol. Cell12:3004-3015(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CHARACTERIZATION;SUBCELLULAR LOCATION
    12. 12.
      "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."
      Yano Y. , Hayashi Y. , Sano K. , Nagano H. , Nakaji M. , Seo Y. , Ninomiya T. , Yoon S. , Yokozaki H. , Kasuga M.
      Cancer Lett.207:139-147(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBCELLULAR LOCATION
    13. 13.
      "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R. , Jiang X. , Sun D. , Han G. , Wang F. , Ye M. , Wang L. , Zou H.
      J. Proteome Res.8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-341
      tissue: Liver.
    14. 14.
      "Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins."
      Wollscheid B. , Bausch-Fluck D. , Henderson C. , O'Brien R. , Bibel M. , Schiess R. , Aebersold R. , Watts J.D.
      Nat. Biotechnol.27:378-386(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-341; ASN-643 AND ASN-748
      tissue: Leukemic T-cell.
    15. 15.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
    16. 16.
      "Solution structure of the somatomedin B domain of human ectonucleotide pyrophosphatase/phosphodiesterase family member."
      RIKEN structural genomics initiative (RSGI)
      Submitted (2007-10) to the PDB data bank
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: STRUCTURE BY NMR OF 147-189
    17. 17.
      "Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL)."
      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.
      Hum. Genet.104:492-497(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS OPLL PRO-91 AND PHE-287;VARIANTS GLN-173; HIS-268 AND PRO-779
    18. 18.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GACI1 PHE-579 AND CYS-774
    19. 19.
      "Generalized arterial calcification of infancy: different clinical courses in two affected siblings."
      Cheng K.-S. , Chen M.-R. , Ruf N. , Lin S.-P. , Rutsch F.
      Am. J. Med. Genet. A136:210-213(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GACI1 VAL-342 AND PHE-371
    20. 20.
      "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."
      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.
      Diabetes54:3021-3025(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GLN-173;ASSOCIATION WITH NIDDM
    21. 21.
      "The mutational spectrum oENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI)."
      Ruf N. , Uhlenberg B. , Terkeltaub R. , Nurnberg P. , Rutsch F.
      Hum. Mutat.25:98-98(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GACI1 LEU-250; TYR-252 DEL; THR-305; VAL-342; PHE-371 AND CYS-774
    22. 22.
      "Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets."
      Lorenz-Depiereux B. , Schnabel D. , Tiosano D. , Hausler G. , Strom T.M.
      Am. J. Hum. Genet.86:267-272(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ARHR2 VAL-266
    23. 23.
      "Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene."
      Levy-Litan V. , Hershkovitz E. , Avizov L. , Leventhal N. , Bercovich D. , Chalifa-Caspi V. , Manor E. , Buriakovsky S. , Hadad Y. , Goding J. , Parvari R.
      Am. J. Hum. Genet.86:273-278(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ARHR2 SER-901;CHARACTERIZATION OF VARIANT ARHR2 SER-901
    24. 24.
      "An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy."
      Le Boulanger G. , Labreze C. , Croue A. , Schurgers L.J. , Chassaing N. , Wittkampf T. , Rutsch F. , Martin L.
      Am. J. Med. Genet. A152:118-123(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GLN-173
    25. 25.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GACI1 HIS-538 AND ARG-586
    26. 26.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS COLED SER-149; SER-164 AND TYR-177
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