Details for: ENPP1

Gene ID: 5167

Symbol: ENPP1

Ensembl ID: ENSG00000197594

Description: ectonucleotide pyrophosphatase/phosphodiesterase 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 3.51
    Marker Score: 4234.5
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 2.41
    Marker Score: 1406
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 1.89
    Marker Score: 704
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 1.74
    Marker Score: 1185
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.48
    Marker Score: 169298
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.46
    Marker Score: 9399
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.46
    Marker Score: 4782
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.45
    Marker Score: 7811
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.43
    Marker Score: 6171
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 1.41
    Marker Score: 398
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1.39
    Marker Score: 2944
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 1.36
    Marker Score: 430
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.36
    Marker Score: 861
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.34
    Marker Score: 13809
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.26
    Marker Score: 14166.5
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.23
    Marker Score: 5317
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.14
    Marker Score: 565
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.08
    Marker Score: 2072
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.07
    Marker Score: 2511
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251791
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71809
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48033.5
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 0.98
    Marker Score: 528.5
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30407
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.98
    Marker Score: 547
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.97
    Marker Score: 502
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: 0.97
    Marker Score: 1258
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 456
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2411
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.93
    Marker Score: 374
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2736
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.91
    Marker Score: 5181
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 322
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.89
    Marker Score: 373
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5296
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.82
    Marker Score: 12876
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1268
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 0.78
    Marker Score: 441
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.76
    Marker Score: 502
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.76
    Marker Score: 577
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 391
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.75
    Marker Score: 2893
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.74
    Marker Score: 296
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.71
    Marker Score: 651
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.71
    Marker Score: 2966
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.7
    Marker Score: 4232
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.7
    Marker Score: 1072
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.69
    Marker Score: 260
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 176
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.65
    Marker Score: 177
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.64
    Marker Score: 386
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.62
    Marker Score: 2606
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.61
    Marker Score: 2155
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.57
    Marker Score: 1167.5
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.57
    Marker Score: 273
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.57
    Marker Score: 206
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.56
    Marker Score: 164
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.56
    Marker Score: 5314
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.55
    Marker Score: 146
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 438
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.55
    Marker Score: 971
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.55
    Marker Score: 349
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 0.52
    Marker Score: 405
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 0.51
    Marker Score: 133
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.49
    Marker Score: 525
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 0.49
    Marker Score: 913
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.47
    Marker Score: 212
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.47
    Marker Score: 1153
  • Cell Name: chondrocyte (CL0000138)
    Fold Change: 0.47
    Marker Score: 210
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.46
    Marker Score: 1922
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.45
    Marker Score: 118
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.45
    Marker Score: 443
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 0.44
    Marker Score: 161
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.44
    Marker Score: 98
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.43
    Marker Score: 100
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.42
    Marker Score: 194
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 0.42
    Marker Score: 230
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.42
    Marker Score: 8394
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.42
    Marker Score: 416
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.41
    Marker Score: 206
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.41
    Marker Score: 100
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 0.41
    Marker Score: 365
  • Cell Name: NKp44-negative group 3 innate lymphoid cell, human (CL0001080)
    Fold Change: 0.4
    Marker Score: 88
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.4
    Marker Score: 427
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.39
    Marker Score: 385
  • Cell Name: NKp44-positive group 3 innate lymphoid cell, human (CL0001079)
    Fold Change: 0.39
    Marker Score: 88
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.39
    Marker Score: 3316.5
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.38
    Marker Score: 14451
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.38
    Marker Score: 184.5
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.37
    Marker Score: 190
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.37
    Marker Score: 118
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.37
    Marker Score: 153
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.36
    Marker Score: 652
  • Cell Name: tendon cell (CL0000388)
    Fold Change: 0.36
    Marker Score: 88
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.36
    Marker Score: 112
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.35
    Marker Score: 376
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.35
    Marker Score: 126.5
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 0.35
    Marker Score: 479
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.34
    Marker Score: 129
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.34
    Marker Score: 149

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Other Information

**Key Characteristics:** ENPP1 is a transmembrane protein belonging to the ectonucleotide pyrophosphatase/phosphodiesterase family. It is expressed in various tissues, including the kidney, liver, and bone, and is widely distributed across different cell types, including mesangial cells, corneal endothelial cells, and hepatocytes. ENPP1 exhibits a unique ability to hydrolyze both ATP and ADP, generating pyrophosphate (PPi) and inorganic phosphate (Pi), respectively. **Pathways and Functions:** ENPP1 plays a crucial role in various cellular processes, including: 1. **Metabolism:** ENPP1 is involved in the regulation of ATP and ADP levels, which are essential for energy production and storage. It also participates in the metabolism of vitamins and cofactors, such as vitamin B2 (riboflavin) and vitamin B5 (pantothenate). 2. **Immune Response:** ENPP1 is expressed on the surface of immune cells, including macrophages and dendritic cells, and is involved in the regulation of immune responses, including the production of cytokines and the presentation of antigens. 3. **Bone Mineralization:** ENPP1 is expressed in osteoblasts and osteoclasts, and plays a crucial role in the regulation of bone mineralization. It inhibits the activity of bone-specific phosphatases, thereby regulating the deposition of calcium ions into bone matrix. 4. **Cell Signaling:** ENPP1 is involved in the regulation of cell signaling pathways, including the insulin signaling pathway and the Wnt/β-catenin pathway. 5. **Regulation of Cell Growth and Differentiation:** ENPP1 regulates cell growth and differentiation by modulating the levels of ATP and ADP, which are essential for the initiation of cell signaling pathways. **Clinical Significance:** Dysregulation of ENPP1 has been implicated in various diseases, including: 1. **Osteoporosis:** ENPP1 deficiency has been associated with an increased risk of osteoporosis, which is characterized by a decrease in bone mineral density and an increased risk of fractures. 2. **Diabetes:** ENPP1 has been shown to regulate glucose metabolism, and its dysregulation has been implicated in the development of diabetes. 3. **Cancer:** ENPP1 has been shown to regulate cell growth and differentiation, and its dysregulation has been implicated in the development of various types of cancer. 4. **Atherosclerosis:** ENPP1 has been shown to regulate the formation of foam cells, which are characteristic of atherosclerosis. In conclusion, ENPP1 is a multifunctional gene that plays a crucial role in various cellular processes, including metabolism, immune response, and bone mineralization. Its dysregulation has been implicated in various diseases, including osteoporosis, diabetes, cancer, and atherosclerosis. Further research is needed to fully understand the mechanisms by which ENPP1 regulates cellular processes and to develop therapeutic strategies for the treatment of diseases associated with ENPP1 dysregulation.

Genular Protein ID: 1656748289

Symbol: ENPP1_HUMAN

Name: Ectonucleotide pyrophosphatase/phosphodiesterase family member 1

UniProtKB Accession Codes:

P22413 Q5T9R6 Q9NPZ3 Q9P1P6 Q9UP61 Q9Y6K3

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CTD 1 ChEBI 83 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 DrugCentral 1 EC 6 EMBL 56 EPD 1 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 51 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 11 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 8 PDBsum 7 PIR 1 PRINTS 1 PRO 1 PROSITE 2 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 1 Rhea 10 SABIO-RK 1 SAM 1 SIGNOR 1 SMART 3 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 3 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2211644

Title: Plasma cell membrane glycoprotein PC-1. cDNA cloning of the human molecule, amino acid sequence, and chromosomal location.

PubMed ID: 2211644

DOI: 10.1016/s0021-9258(18)38193-6

PubMed ID: 1315502

Title: Molecular cloning of cDNAs for human fibroblast nucleotide pyrophosphatase.

PubMed ID: 1315502

DOI: 10.1016/0003-9861(92)90504-p

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10480624

Title: A polymorphism (K121Q) of the human glycoprotein PC-1 gene coding region is strongly associated with insulin resistance.

PubMed ID: 10480624

DOI: 10.2337/diabetes.48.9.1881

PubMed ID: 8001561

Title: Biochemical characterization of human PC-1, an enzyme possessing alkaline phosphodiesterase I and nucleotide pyrophosphatase activities.

PubMed ID: 8001561

DOI: 10.1111/j.1432-1033.1994.tb20068.x

PubMed ID: 7737162

Title: Autophosphorylation of PC-1 (alkaline phosphodiesterase I/nucleotide pyrophosphatase) and analysis of the active site.

PubMed ID: 7737162

DOI: 10.1111/j.1432-1033.1995.tb20308.x

PubMed ID: 9344668

Title: Molecular cloning and chromosomal localization of PD-Ibeta (PDNP3), a new member of the human phosphodiesterase I genes.

PubMed ID: 9344668

DOI: 10.1006/geno.1997.4949

PubMed ID: 11004006

Title: Osteoblast tissue-nonspecific alkaline phosphatase antagonizes and regulates PC-1.

PubMed ID: 11004006

DOI: 10.1152/ajpregu.2000.279.4.r1365

PubMed ID: 10615944

Title: Membrane glycoprotein PC-1 inhibition of insulin receptor function occurs via direct interaction with the receptor alpha-subunit.

PubMed ID: 10615944

DOI: 10.2337/diabetes.49.1.13

PubMed ID: 11598187

Title: Characterization of a di-leucine-based signal in the cytoplasmic tail of the nucleotide-pyrophosphatase NPP1 that mediates basolateral targeting but not endocytosis.

PubMed ID: 11598187

DOI: 10.1091/mbc.12.10.3004

PubMed ID: 15072822

Title: 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.

PubMed ID: 15072822

DOI: 10.1016/j.canlet.2003.11.002

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 19349973

Title: Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins.

PubMed ID: 19349973

DOI: 10.1038/nbt.1532

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25344812

Title: Hydrolysis of 2'3'-cGAMP by ENPP1 and design of nonhydrolyzable analogs.

PubMed ID: 25344812

DOI: 10.1038/nchembio.1661

PubMed ID: 28011303

Title: The promiscuous ectonucleotidase NPP1: molecular insights into substrate binding and hydrolysis.

PubMed ID: 28011303

DOI: 10.1016/j.bbagen.2016.12.019

PubMed ID: 35147247

Title: The Mineralization Regulator ANKH Mediates Cellular Efflux of ATP, Not Pyrophosphate.

PubMed ID: 35147247

DOI: 10.1002/jbmr.4528

PubMed ID: 10453738

Title: Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL).

PubMed ID: 10453738

DOI: 10.1007/s004390050993

PubMed ID: 12881724

Title: Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

PubMed ID: 12881724

DOI: 10.1038/ng1221

PubMed ID: 15940697

Title: Generalized arterial calcification of infancy: different clinical courses in two affected siblings.

PubMed ID: 15940697

DOI: 10.1002/ajmg.a.30800

PubMed ID: 16186408

Title: 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.

PubMed ID: 16186408

DOI: 10.2337/diabetes.54.10.3021

PubMed ID: 15605415

Title: The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI).

PubMed ID: 15605415

DOI: 10.1002/humu.9297

PubMed ID: 20016754

Title: Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy.

PubMed ID: 20016754

DOI: 10.1161/circgenetics.108.797704

PubMed ID: 20137773

Title: Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.

PubMed ID: 20137773

DOI: 10.1016/j.ajhg.2010.01.006

PubMed ID: 20137772

Title: Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene.

PubMed ID: 20137772

DOI: 10.1016/j.ajhg.2010.01.010

PubMed ID: 20034067

Title: An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy.

PubMed ID: 20034067

DOI: 10.1002/ajmg.a.33162

PubMed ID: 23430823

Title: Generalized arterial calcification of infancy: fatal clinical course associated with a novel mutation in ENPP1.

PubMed ID: 23430823

DOI: 10.1007/8904_2011_11

PubMed ID: 22209248

Title: Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.

PubMed ID: 22209248

DOI: 10.1016/j.ajhg.2011.11.020

PubMed ID: 24075184

Title: Cole disease results from mutations in ENPP1.

PubMed ID: 24075184

DOI: 10.1016/j.ajhg.2013.08.007

PubMed ID: 25741938

Title: Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1.

PubMed ID: 25741938

DOI: 10.1515/jpem-2014-0531

PubMed ID: 26617416

Title: Association of Cole disease with novel heterozygous mutations in the somatomedin-B domains of the ENPP1 gene: necessary, but not always sufficient.

PubMed ID: 26617416

DOI: 10.1111/bjd.14328

PubMed ID: 27467858

Title: Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1.

PubMed ID: 27467858

DOI: 10.1002/humu.23057

PubMed ID: 28964717

Title: ENPP1 mutation causes recessive cole disease by altering melanogenesis.

PubMed ID: 28964717

DOI: 10.1016/j.jid.2017.08.045

PubMed ID: 29958952

Title: Association and in silico studies of ENPP1 gene variants with type 2 diabetes mellitus in a Northern Iranian population.

PubMed ID: 29958952

DOI: 10.1016/j.gene.2018.06.006

Sequence Information:

  • Length: 925
  • Mass: 104924
  • Checksum: 0ECAA063801CAFEB
  • Sequence:
    • MERDGCAGGG SRGGEGGRAP REGPAGNGRD RGRSHAAEAP GDPQAAASLL APMDVGEEPL 
EKAARARTAK DPNTYKVLSL VLSVCVLTTI LGCIFGLKPS CAKEVKSCKG RCFERTFGNC 
RCDAACVELG NCCLDYQETC IEPEHIWTCN KFRCGEKRLT RSLCACSDDC KDKGDCCINY 
SSVCQGEKSW VEEPCESINE PQCPAGFETP PTLLFSLDGF RAEYLHTWGG LLPVISKLKK 
CGTYTKNMRP VYPTKTFPNH YSIVTGLYPE SHGIIDNKMY DPKMNASFSL KSKEKFNPEW 
YKGEPIWVTA KYQGLKSGTF FWPGSDVEIN GIFPDIYKMY NGSVPFEERI LAVLQWLQLP 
KDERPHFYTL YLEEPDSSGH SYGPVSSEVI KALQRVDGMV GMLMDGLKEL NLHRCLNLIL 
ISDHGMEQGS CKKYIYLNKY LGDVKNIKVI YGPAARLRPS DVPDKYYSFN YEGIARNLSC 
REPNQHFKPY LKHFLPKRLH FAKSDRIEPL TFYLDPQWQL ALNPSERKYC GSGFHGSDNV 
FSNMQALFVG YGPGFKHGIE ADTFENIEVY NLMCDLLNLT PAPNNGTHGS LNHLLKNPVY 
TPKHPKEVHP LVQCPFTRNP RDNLGCSCNP SILPIEDFQT QFNLTVAEEK IIKHETLPYG 
RPRVLQKENT ICLLSQHQFM SGYSQDILMP LWTSYTVDRN DSFSTEDFSN CLYQDFRIPL 
SPVHKCSFYK NNTKVSYGFL SPPQLNKNSS GIYSEALLTT NIVPMYQSFQ VIWRYFHDTL 
LRKYAEERNG VNVVSGPVFD FDYDGRCDSL ENLRQKRRVI RNQEILIPTH FFIVLTSCKD 
TSQTPLHCEN LDTLAFILPH RTDNSESCVH GKHDSSWVEE LLMLHRARIT DVEHITGLSF 
YQQRKEPVSD ILKLKTHLPT FSQED

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.