Recombinant Human Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (ENPP1), partial

1. ENPP1 gene variants may have a potential impact on the occurrence of T2 diabetes mellitus in Northern Iranians. PMID: 29958952
2. ENPP1 K121Q polymorphism is associated with type 2 diabetes mellitus in Ukrainian population. In carriers of the minor Q-allele the risk of T2DM is 1.4x higher than in homozygotes in the main K-allele. The risk increases in patients with BMI >/= 25 kg/m2 PMID: 30099416
3. this study shows that ENPP1 is biomarker candidate for endometriosis PMID: 29194839
4. ENPP1 rs997509 polymorphism is associated with type 2 diabetes mellitus development in Ukrainian population. PMID: 29783211
5. This meta-analysis revealed that the K121Q (rs1044498 C > A) in the ENPP1 gene is a risk factor for Coronary Heart Disease. PMID: 29979387
6. This study identifies the genetic variant rs9373000 as a potentially causal variant for mandibular condyle geometry variation for patients presenting with dento-facial deformities. PMID: 28381371
7. these results show that ENPP1 polymorphism influences lower anterior face height, the distance from the upper lip to the nasal floor, and lip shape PMID: 28415752
8. PC-1 works in conjunction with E3 ligase CHIP to regulate androgen receptor stability and activity. PMID: 27835608
9. Single nucleotide polymorphism in ENPP1 gene is associated with Gender differences in type 2 diabetes. PMID: 28951309
10. Single nucleotide polymorphism in ENPP1 gene is associated with developing of bone disorders in type 2 diabetes. PMID: 28942038
11. ENPP1 defines a subset of human B cells that differs significantly from mouse peritoneal B-1a and proposed human B-1 cells. PMID: 27029896
12. We have identified TT genotype of SNP rs858339 (ENPP1 gene) as a protective factor against TMD in a population of patients with dentofacial deformities. PMID: 27519661
13. Evidence of a causative link between ENPP1 and alterations in insulin signaling, glucose uptake, and lipid metabolism in subcutaneous abdominal Adipose tissue of gestational diabetes, which may mediate insulin resistance and hyperglycemia in Gestational diabetes. PMID: 28080219
14. We investigated whether ENPP1 gene which contribute to sagittal and vertical malocclusions also contribute to facial asymmetries and temporomandibular disorders before and after orthodontic and orthognathic surgery treatment PMID: 29103441
15. Results identified four mutants (p.Tyr471Cys, p.Ser504Arg, p.Tyr659Cys, p.His777Arg) in ENPP1 gene with residual NPP activity, inorganic pyrophosphate generation and plasma membrane localization. PMID: 27467858
16. The ENPP1 rs1044498 SNP is associated with T2D. PMID: 27238374
17. Results suggest that heterozygous mutations in the SMB domains of ENPP1 are necessary, but not always sufficient in themselves to cause Cole disease. PMID: 26617416
18. The K121Q polymorphism of ENPP1 shows no direct correlation with metabolic syndrome in Han Chinese. PMID: 27219689
19. Our findings demonstrate that ENPP1, TCF7L2, and FTO may predispose to T2DM in the mixed-ancestry population. PMID: 26958016
20. In this exploratory analysis, IRS1, ENNP1 and TRIB3, known to be associated with type 2 diabetes and harboring genes playing a prominent role in mediating insulin signaling, may modulate a number of cardiometabolic phenotypes in patients of Italian ancestry with newly-diagnosed type 2 diabetes. PMID: 26868433
21. we found that patients with severe asthma exacerbation had reduced activity of leukocyte ectonucleotidases and reduced expression of E-NPP1 in PMNs. PMID: 26405014
22. A rare type of idiopathic infantile arterial calcification resulting from a mutation in the gene encoding for the ENPP1 enzyme. PMID: 27029882
23. Loss of function mutation in ENPP1 is associated with early onset hearing loss in autosomal recessive hypophosphatemic rickets. PMID: 25741938
24. ENPP1 was also identified as a substrate of the 26S proteasome, the activity of which is downregulated in CSCs PMID: 26065921
25. ENPP1 rs1805101 polymorphism is associated with Insulin resistance and advanced Diabetic nephropathy. PMID: 25594612
26. The present meta-analysis detected a significant association between the ENPP1K121Q polymorphism and increased susceptibility of diabetic kidney disease in European and Asian populations. PMID: 25794151
27. 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. PMID: 25368487
28. In pregnant women, association of both pre-gestational BMI and age with AA homozygous ENPP1 genotype increased significantly the risk of positive oral glucose tolerance test. PMID: 25222839
29. this study identified only 1 mutation in ENPP1 in the Chinese pseudoxanthoma elasticum population PMID: 25615550
30. EphA3 was induced by PC-1 and contributed to the malignant progression of prostate cancer PMID: 25231727
31. patterns were confirmed in human teeth, including widespread TNAP, and NPP1 restricted to cementoblasts lining acellular cementum PMID: 25504209
32. Polymorphisms in ALP, ENPP1 and ANKH are important genetic risk factors contributing to Pseudoxanthoma elasticum PMID: 25025693
33. findings show the Q allele of the ENPP1 K121Q gene may contribute to the susceptibility for type 2 diabetes in Caucasians and Asians PMID: 25109753
34. ENPP1 2'3'-cGAMP-hydrolyzing activity is repsonsible for tumor progression in humans and mice. PMID: 25344812
35. these results reveal that E-NPP1, by acting upstream of E2F1, is indispensable for the maintenance of glioblastoma stem-like cells in vitro and hence required to keep GSCs in an undifferentiated, proliferative state. PMID: 24531536
36. The mutant homozygous genotype of ENPP! K121Q, was more prevalent in diabetic hypertensive MI patients than it was among non-diabetic normotensive MI patients. PMID: 24242286
37. Both NPP1 and NPP3 ectoenzymes are expressed in N2a cells, their levels dramatically changing when cells differentiate into a neuronal-like phenotype PMID: 24947519
38. Specific genotypes of the NPP1 gene IVS20-11delT and A533C SNPs may predict ossification of the posterior longitudinal ligament disease outcome after surgical intervention. PMID: 24222241
39. The ENPP1 K121Q gene polymorphism is associated with insulin resistance in an obese North Indian population. PMID: 24371178
40. ENPP1 (and PLIN) genes contribute to the risk of type 2 diabetes in a Taiwanese population. PMID: 23111648
41. The combined studies expand our understanding of NPP1 and NPP4 substrate specificity and range and provide a rational mechanism by which polymorphisms in NPP1 confer stroke resistance. PMID: 24338010
42. Biallelic mutations in ENPP1 were shown to underlie a number of recessive conditions characterized by ectopic calcification. PMID: 24075184
43. these data suggest a potential role for Enpp1 in the development of breast cancer bone metastasis. PMID: 23861746
44. Individuals carrying the ENPP1 Q121 variant are highly responsive to the effect of weight loss on fasting glucose so the Q121 variant interacts with adiposity in modulating glucose homeostasis. PMID: 22402064
45. Human phosphodiesterase 1 is regulated by a tandem of N-terminal calmodulin/Ca(2+)-binding domains. PMID: 22484154
46. Platelets and serum E-NPP1 activity increased in prostate cancer patients. PMID: 23433854
47. mutation in GOLGB1 (Y1212C) and another mutation in ENPP1 (K173Q) were confirmed as having significant associations with a decreased risk for stroke PMID: 23422753
48. ENPP1 gene polymorphism rs1409181 was associated with left ventricular hypertrophy in older Chinese people in Guangzhou. PMID: 21162834
49. The findings suggest that ENPP1 polymorphisms may contribute to different metabolic characteristics, all of which are associated with insulin resistance in mixed ancestry children of South Africa. PMID: 23451554
50. the ENPP-1 Q121 variant plays a role in modulating the risk of premature atherosclerotic events, particularly in obese individuals PMID: 22899099

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HGNC: 3356

OMIM: 125853

KEGG: hsa:5167

STRING: 9606.ENSP00000354238

UniGene: Hs.527295