ENPP1 (6q23.2) pyrofosfataasi/fosfodiesteraasi 1

Tämä entsyymi tuottaa  epäorgaanisia  fosfaattimuotoja PPi ja Pi   lehossa.

https://www.ncbi.nlm.nih.gov/gene/5167

Official Symbol ENPP1

Official Full Name: ectonucleotide pyrophosphatase/phosphodiesterase 1provided by HGNC

Gene type protein coding

Also known as M6S1; NPP1; NPPS; PC-1; PCA1; ARHR2; COLED; PDNP1

Summary:  This gene is a member of the ecto-nucleotide pyrophosphatase/phosphodiesterase (ENPP) family. The encoded protein is a type II transmembrane glycoprotein comprising two identical disulfide-bonded subunits. This protein has broad specificity and cleaves a variety of substrates, including phosphodiester bonds of nucleotides and nucleotide sugars and pyrophosphate bonds of nucleotides and nucleotide sugars. This protein may function to hydrolyze nucleoside 5' triphosphates to their corresponding monophosphates and may also hydrolyze diadenosine polyphosphates. Mutations in this gene have been associated with 'idiopathic' infantile arterial calcification, ossification of the posterior longitudinal ligament of the spine (OPLL), and insulin resistance. [provided by RefSeq, Jul 2008]

Expression

Biased expression in placenta (RPKM 22.6), thyroid (RPKM 14.0) and 13 other tissues See more

Orthologs

Preferred Names

ectonucleotide pyrophosphatase/phosphodiesterase family member 1

Names

E-NPP 1

Ly-41 antigen

alkaline phosphodiesterase 1

membrane component, chromosome 6, surface marker 1

phosphodiesterase I/nucleotide pyrophosphatase 1

plasma-cell membrane glycoprotein 1

plasma-cell membrane glycoprotein PC-1

Zn.binding site: D-T-D-H-D-H-H

Conserved Domains (4) summary

smart00201
Location:145 → 188

SO; Somatomedin B -like domains

smart00477
Location:676 → 907

NUC; DNA/RNA non-specific endonuclease

pfam01663
Location:212 → 538

Phosphodiest; Type I phosphodiesterase / nucleotide pyrophosphatase

cd16018
Location:210 → 578

Enpp; Ectonucleotide pyrophosphatase/phosphodiesterase, also called autotaxin

Related articles in PubMed

1. Neutrophils as sources of dinucleotide polyphosphates and metabolism by epithelial ENPP1 to influence barrier function via adenosine signaling. Curtis VF, et al. Mol Biol Cell, 2018 Nov 1. PMID 30188771, Free PMC Article
2. [The analysis of association between ENPP1 K121Q polymorphism and risk factors of type 2 diabetes mellitus in ukrainian population]. Marchenko IV, et al. Wiad Lek, 2018. PMID 30099416
3. ENPP1 K121Q (rs1044498 C > A) genetic polymorphism confers a high risk of susceptibility to coronary heart disease: A PRISMA-compliant article. Di JY, et al. Medicine (Baltimore), 2018 Jul. PMID 29979387, Free PMC Article
4. Association and in silico studies of ENPP1 gene variants with type 2 diabetes mellitus in a Northern Iranian population. Sharafshah A, et al. Gene, 2018 Oct 30. PMID 29958952
5. [The association between enpp1 rs997509 polymorphism and type 2 diabetes mellitus development in ukrainian population]. Marchenko IV, et al. Wiad Lek, 2018. PMID 29783211

See all (228) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

1. These studies demonstrate the cooperative metabolism between diadenosine triphosphate and ENPP1 function to provide a significant source of adenosine, subserving its role in inflammatory resolution.
2. Pilot study examined 3 candidate genes, ectonucleotide pyrophosphatase/phosphodiesterase (ENPP1), ATP Binding Cassette Subfamily C Member 6 (ABCC6), and 5'-Nucleotidase Ecto (NT5E) involved in pyrophosphate (PPi) and inorganic phosphate (Pi) metabolism, which may predispose to coronary arterial or valvular calcification; report 4 new genetic variants potentially related to coronary calcification.
3. The promiscuous ectonucleotidase NPP1: molecular insights into substrate binding and hydrolysis.
4. This study for the first time analyzed the effect of decreased PPi on dental development in individuals with generalized arterial calcification of infancy (GACI) due to loss-of-function mutations in the ENPP1 gene.These findings reveal a novel dental phenotype in GACI and identify ENPP1 genetic mutations associated with hypercementosis.
5. Study concludes that germline ENPP1 cysteine-specific mutations, primarily affecting the melanocyte lineage, cause a clinical spectrum of dyschromatosis, in which the p.Cys120Arg allele represents a recessive and more severe form of Cole disease.
6. Findings provide insights into how ENPP1 hydrolyzes both ATP and cGAMP to participate in the two distinct biological processes.
7. ENPP1 gene variants may have a potential impact on the occurrence of T2 diabetes mellitus in Northern Iranians.
8. 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
9. this study shows that ENPP1 is biomarker candidate for endometriosis
10. ENPP1 rs997509 polymorphism is associated with type 2 diabetes mellitus development in Ukrainian population.

Submit: New GeneRIF Correction See all GeneRIFs (166)