Sequence of ENPP1_HUMAN

EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
phosphodiesterase I
P22413
Homo sapiens
925
104924
Reaction
hydrolytically removes 5'-nucleotides successively from the 3'-hydroxy termini of 3'-hydroxy-terminated oligonucleotides
Sequences with same EC No.
Sequence
show sequence in fasta format
  0 MERDGCAGGG SRGGEGGRAP REGPAGNGRD RGRSHAAEAP GDPQAAASLL APMDVGEEPL
 60 EKAARARTAK DPNTYKVLSL VLSVCVLTTI LGCIFGLKPS CAKEVKSCKG RCFERTFGNC
120 RCDAACVELG NCCLDYQETC IEPEHIWTCN KFRCGEKRLT RSLCACSDDC KDKGDCCINY
180 SSVCQGEKSW VEEPCESINE PQCPAGFETP PTLLFSLDGF RAEYLHTWGG LLPVISKLKK
240 CGTYTKNMRP VYPTKTFPNH YSIVTGLYPE SHGIIDNKMY DPKMNASFSL KSKEKFNPEW
300 YKGEPIWVTA KYQGLKSGTF FWPGSDVEIN GIFPDIYKMY NGSVPFEERI LAVLQWLQLP
360 KDERPHFYTL YLEEPDSSGH SYGPVSSEVI KALQRVDGMV GMLMDGLKEL NLHRCLNLIL
420 ISDHGMEQGS CKKYIYLNKY LGDVKNIKVI YGPAARLRPS DVPDKYYSFN YEGIARNLSC
480 REPNQHFKPY LKHFLPKRLH FAKSDRIEPL TFYLDPQWQL ALNPSERKYC GSGFHGSDNV
540 FSNMQALFVG YGPGFKHGIE ADTFENIEVY NLMCDLLNLT PAPNNGTHGS LNHLLKNPVY
600 TPKHPKEVHP LVQCPFTRNP RDNLGCSCNP SILPIEDFQT QFNLTVAEEK IIKHETLPYG
660 RPRVLQKENT ICLLSQHQFM SGYSQDILMP LWTSYTVDRN DSFSTEDFSN CLYQDFRIPL
720 SPVHKCSFYK NNTKVSYGFL SPPQLNKNSS GIYSEALLTT NIVPMYQSFQ VIWRYFHDTL
780 LRKYAEERNG VNVVSGPVFD FDYDGRCDSL ENLRQKRRVI RNQEILIPTH FFIVLTSCKD
840 TSQTPLHCEN LDTLAFILPH RTDNSESCVH GKHDSSWVEE LLMLHRARIT DVEHITGLSF
900 YQQRKEPVSD ILKLKTHLPT FSQED
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Sequence related references
Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
30878
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
30879
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
30881
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
30882
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
30883
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
30884
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
30885
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
30886
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
30887
Johnson K.A.,Hessle L.,Vaingankar S.,Wennberg C.,Mauro S.,Narisawa S.,Goding J.W.,Sano K.,Millan J.L.,Terkeltaub R.
Osteoblast tissue-nonspecific alkaline phosphatase antagonizes and regulates PC-1.
Am. J. Physiol.
279
0-0
2000
30888
Maddux B.A.,Goldfine I.D.
Membrane glycoprotein PC-1 inhibition of insulin receptor function occurs via direct interaction with the receptor alpha-subunit.
Diabetes
49
13-19
2000
30889
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
30890
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
30891
Chen R.,Jiang X.,Sun D.,Han G.,Wang F.,Ye M.,Wang L.,Zou H.
Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
J. Proteome Res.
8
651-661
2009
30892
Wollscheid B.,Bausch-Fluck D.,Henderson C.,O'Brien R.,Bibel M.,Schiess R.,Aebersold R.,Watts J.D.
Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins.
Nat. Biotechnol.
27
378-386
2009
30893
Bian Y.,Song C.,Cheng K.,Dong M.,Wang F.,Huang J.,Sun D.,Wang L.,Ye M.,Zou H.
An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
J. Proteomics
96
253-262
2014
30894
Li L.,Yin Q.,Kuss P.,Maliga Z.,Millan J.L.,Wu H.,Mitchison T.J.
Hydrolysis of 2'3'-cGAMP by ENPP1 and design of nonhydrolyzable analogs.
Nat. Chem. Biol.
10
1043-1048
2014
30896
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
30897
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
30898
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
30899
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
30900
Ruf N.,Uhlenberg B.,Terkeltaub R.,Nurnberg P.,Rutsch F.
The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI).
Hum. Mutat.
25
98-98
2005
30901
Rutsch F.,Boeyer P.,Nitschke Y.,Ruf N.,Lorenz-Depierieux B.,Wittkampf T.,Weissen-Plenz G.,Fischer R.J.,Mughal Z.,Gregory J.W.,Davies J.H.,Loirat C.,Strom T.M.,Schnabel D.,Nuernberg P.,Terkeltaub R.
Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy.
Circ. Cardiovasc. Genet.
1
133-140
2008
30902
Lorenz-Depiereux B.,Schnabel D.,Tiosano D.,Hausler G.,Strom T.M.
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.
Am. J. Hum. Genet.
86
267-272
2010
30903
Levy-Litan V.,Hershkovitz E.,Avizov L.,Leventhal N.,Bercovich D.,Chalifa-Caspi V.,Manor E.,Buriakovsky S.,Hadad Y.,Goding J.,Parvari R.
Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene.
Am. J. Hum. Genet.
86
273-278
2010
30904
Le Boulanger G.,Labreze C.,Croue A.,Schurgers L.J.,Chassaing N.,Wittkampf T.,Rutsch F.,Martin L.
An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy.
Am. J. Med. Genet. A
152
118-123
2010
30905
Galletti S.,Nitschke Y.,Malavolti A.M.,Aquilano G.,Faldella G.,Corvaglia L.,Rutsch F.
Generalized arterial calcification of infancy: fatal clinical course associated with a novel mutation in ENPP1.
JIMD Rep.
1
23-27
2011
30906
Nitschke Y.,Baujat G.,Botschen U.,Wittkampf T.,du Moulin M.,Stella J.,Le Merrer M.,Guest G.,Lambot K.,Tazarourte-Pinturier M.F.,Chassaing N.,Roche O.,Feenstra I.,Loechner K.,Deshpande C.,Garber S.J.,Chikarmane R.,Steinmann B.,Shahinyan T.,Martorell L.,Davies J.,Smith W.E.,Kahler S.G.,McCulloch M.,Wraige E.,Loidi L.,Hohne W.,Martin L.,Hadj-Rabia S.,Terkeltaub R.,Rutsch F.
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
Am. J. Hum. Genet.
90
25-39
2012
30907
Eytan O.,Morice-Picard F.,Sarig O.,Ezzedine K.,Isakov O.,Li Q.,Ishida-Yamamoto A.,Shomron N.,Goldsmith T.,Fuchs-Telem D.,Adir N.,Uitto J.,Orlow S.J.,Taieb A.,Sprecher E.
Cole disease results from mutations in ENPP1.
Am. J. Hum. Genet.
93
752-757
2013
30908
Steichen-Gersdorf E.,Lorenz-Depiereux B.,Strom T.M.,Shaw N.J.
Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1.
J. Pediatr. Endocrinol. Metab.
28
967-970
2015
30909
Schlipf N.A.,Traupe H.,Gilaberte Y.,Peitsch W.K.,Hausser I.,Oji V.,Schmieder A.,Schneider S.W.,Demmer P.,Roesler B.,Fischer J.
Association of Cole disease with novel heterozygous mutations in the somatomedin-B domains of the ENPP1 gene: necessary, but not always sufficient.
Br. J. Dermatol.
174
1152-1156
2016
30910
Stella J.,Buers I.,van de Wetering K.,Hoehne W.,Rutsch F.,Nitschke Y.
Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1.
Hum. Mutat.
37
1190-1201
2016
30911
Chourabi M.,Liew M.S.,Lim S.,H'mida-Ben Brahim D.,Boussofara L.,Dai L.,Wong P.M.,Foo J.N.,Sriha B.,Robinson K.S.,Denil S.,Common J.E.,Mamai O.,Ben Khalifa Y.,Bollen M.,Liu J.,Denguezli M.,Bonnard C.,Saad A.,Reversade B.
ENPP1 mutation causes recessive cole disease by altering melanogenesis.
J. Invest. Dermatol.
138
291-300
2018
30912
Sharafshah A.,Keshavarz P.,Rezaei S.,Farhadian N.
Association and in silico studies of ENPP1 gene variants with type 2 diabetes mellitus in a Northern Iranian population.
Gene
675
225-232
2018