Property Summary

NCBI Gene PubMed Count 193
Grant Count 246
R01 Count 68
Funding $57,935,564.28
PubMed Score 495.47
PubTator Score 357.36

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession P22413 Q5T9R6 Q9NPZ3 Q9P1P6 Q9UP61 Q9Y6K3 E-NPP 1
Symbols M6S1
NPP1
NPPS
PC-1
PCA1
ARHR2
COLED
PDNP1

Gene

PDB

2YS0  

Gene RIF (217)

PMID Text
27029882 A rare type of idiopathic infantile arterial calcification resulting from a mutation in the gene encoding for the ENPP1 enzyme.
26065921 ENPP1 was also identified as a substrate of the 26S proteasome, the activity of which is downregulated in CSCs
25794151 The present meta-analysis detected a significant association between the ENPP1K121Q polymorphism and increased susceptibility of diabetic kidney disease in European and Asian populations.
25741938 Loss of function mutation in ENPP1 is associated with early onset hearing loss in autosomal recessive hypophosphatemic rickets.
25644539 Expression of NPP1 and 5'-nucleotidase by valve interstitial cells promotes the mineralization of the aortic valve through A2aR and a cAMP/PKA/CREB pathway.
25615550 this study identified only 1 mutation in ENPP1 in the Chinese pseudoxanthoma elasticum population
25594612 ENPP1 rs1805101 polymorphism is associated with Insulin resistance and advanced Diabetic nephropathy.
25504209 patterns were confirmed in human teeth, including widespread TNAP, and NPP1 restricted to cementoblasts lining acellular cementum
25368487 the ENPP1 K121Q polymorphism is associated with insulin resistance during web-based lifestyle intervention, and the K121 allele has a beneficial effect of weight loss on insulin resistance.
25344812 ENPP1 2'3'-cGAMP-hydrolyzing activity is repsonsible for tumor progression in humans and mice.
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AA Sequence

MERDGCAGGGSRGGEGGRAPREGPAGNGRDRGRSHAAEAPGDPQAAASLLAPMDVGEEPLEKAARARTAK      1 - 70
DPNTYKVLSLVLSVCVLTTILGCIFGLKPSCAKEVKSCKGRCFERTFGNCRCDAACVELGNCCLDYQETC     71 - 140
IEPEHIWTCNKFRCGEKRLTRSLCACSDDCKDKGDCCINYSSVCQGEKSWVEEPCESINEPQCPAGFETP    141 - 210
PTLLFSLDGFRAEYLHTWGGLLPVISKLKKCGTYTKNMRPVYPTKTFPNHYSIVTGLYPESHGIIDNKMY    211 - 280
DPKMNASFSLKSKEKFNPEWYKGEPIWVTAKYQGLKSGTFFWPGSDVEINGIFPDIYKMYNGSVPFEERI    281 - 350
LAVLQWLQLPKDERPHFYTLYLEEPDSSGHSYGPVSSEVIKALQRVDGMVGMLMDGLKELNLHRCLNLIL    351 - 420
ISDHGMEQGSCKKYIYLNKYLGDVKNIKVIYGPAARLRPSDVPDKYYSFNYEGIARNLSCREPNQHFKPY    421 - 490
LKHFLPKRLHFAKSDRIEPLTFYLDPQWQLALNPSERKYCGSGFHGSDNVFSNMQALFVGYGPGFKHGIE    491 - 560
ADTFENIEVYNLMCDLLNLTPAPNNGTHGSLNHLLKNPVYTPKHPKEVHPLVQCPFTRNPRDNLGCSCNP    561 - 630
SILPIEDFQTQFNLTVAEEKIIKHETLPYGRPRVLQKENTICLLSQHQFMSGYSQDILMPLWTSYTVDRN    631 - 700
DSFSTEDFSNCLYQDFRIPLSPVHKCSFYKNNTKVSYGFLSPPQLNKNSSGIYSEALLTTNIVPMYQSFQ    701 - 770
VIWRYFHDTLLRKYAEERNGVNVVSGPVFDFDYDGRCDSLENLRQKRRVIRNQEILIPTHFFIVLTSCKD    771 - 840
TSQTPLHCENLDTLAFILPHRTDNSESCVHGKHDSSWVEELLMLHRARITDVEHITGLSFYQQRKEPVSD    841 - 910
ILKLKTHLPTFSQED                                                           911 - 925
//

Text Mined References (199)

PMID Year Title
27467858 2016 Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1.
27029882 2016 [Molecular biology as a diagnostic tool in the newborn Emergency department: a rare case of idiopathic infantile arterial calcification].
26065921 2015 Loss of microRNA-27b contributes to breast cancer stem cell generation by activating ENPP1.
25794151 2015 Association between the ENPP1 K121Q polymorphism and risk of diabetic kidney disease: a systematic review and meta-analysis.
25741938 2015 Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1.
25644539 2015 Adenosine derived from ecto-nucleotidases in calcific aortic valve disease promotes mineralization through A2a adenosine receptor.
25615550 2015 Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations.
25594612 2015 Human genetics of diabetic nephropathy.
25504209 2015 Counter-regulatory phosphatases TNAP and NPP1 temporally regulate tooth root cementogenesis.
25368487 2014 Impact of ENPP1 K121Q on change of insulin resistance after web-based intervention in Korean men with diabetes and impaired fasting glucose.
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