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Ask your administrator if you think this is wrong. ======= ENPP1 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: ENPP1 * **<color #00a2e8>Official Name</color>**: ectonucleotide pyrophosphatase/phosphodiesterase 1 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=5167|5167]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P22413|P22413]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ENPP1&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ENPP1|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/173335|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: 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]. * **<color #00a2e8>UniProt Summary</color>**: By generating PPi, plays a role in regulating pyrophosphate levels, and functions in bone mineralization and soft tissue calcification. PPi inhibits mineralization by binding to nascent hydroxyapatite (HA) crystals, thereby preventing further growth of these crystals. Preferentially hydrolyzes ATP, but can also hydrolyze other nucleoside 5' triphosphates such as GTP, CTP, TTP and UTP to their corresponding monophosphates with release of pyrophosphate and diadenosine polyphosphates, and also 3',5'-cAMP to AMP. May also be involved in the regulation of the availability of nucleotide sugars in the endoplasmic reticulum and Golgi, and the regulation of purinergic signaling. Appears to modulate insulin sensitivity and function. {ECO:0000269|PubMed:10615944, ECO:0000269|PubMed:27467858, ECO:0000269|PubMed:8001561}. <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |Phosphodiest| |Somatomedin B| |Endonuclease NS| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |negative regulation of hh target transcription factor activity| |cyclic-GMP-AMP hydrolase activity| |inorganic diphosphate transport| |nucleotide diphosphatase activity| |sequestering of triglyceride| |phosphodiesterase I activity| |3-phosphoadenosine 5-phosphosulfate binding| |negative regulation of glycogen biosynthetic process| |nucleoside-triphosphate diphosphatase activity| |riboflavin metabolic process| |negative regulation of glycogen metabolic process| |NADH pyrophosphatase activity| |cellular phosphate ion homeostasis| |cellular divalent inorganic anion homeostasis| |cellular trivalent inorganic anion homeostasis| |flavin-containing compound metabolic process| |divalent inorganic anion homeostasis| |cellular monovalent inorganic anion homeostasis| |phosphate ion homeostasis| |cellular anion homeostasis| |trivalent inorganic anion homeostasis| |negative regulation of glucose import| |negative regulation of protein autophosphorylation| |nucleoside triphosphate catabolic process| |exonuclease activity| |negative regulation of glucose transmembrane transport| |polysaccharide binding| |negative regulation of bone mineralization| |melanocyte differentiation| |insulin receptor binding| |3-phosphoadenosine 5-phosphosulfate metabolic process| |purine ribonucleoside bisphosphate metabolic process| |monovalent inorganic anion homeostasis| |negative regulation of biomineral tissue development| |negative regulation of biomineralization| |regulation of glycogen biosynthetic process| |lipid storage| |regulation of glucan biosynthetic process| |negative regulation of smoothened signaling pathway| |pigment cell differentiation| |negative regulation of insulin receptor signaling pathway| |regulation of glycogen metabolic process| |negative regulation of cellular response to insulin stimulus| |regulation of polysaccharide biosynthetic process| |developmental pigmentation| |negative regulation of cellular carbohydrate metabolic process| |regulation of polysaccharide metabolic process| |negative regulation of fat cell differentiation| |regulation of protein autophosphorylation| |negative regulation of carbohydrate metabolic process| |scavenger receptor activity| |regulation of glucose import| |anion homeostasis| |regulation of insulin receptor signaling pathway| |regulation of cellular response to insulin stimulus| |nucleoside phosphate catabolic process| |regulation of glucose transmembrane transport| |negative regulation of ossification| |regulation of bone mineralization| |regulation of smoothened signaling pathway| |water-soluble vitamin metabolic process| |pigmentation| |biomineral tissue development| |regulation of biomineral tissue development| |biomineralization| |nucleoside triphosphate metabolic process| |regulation of biomineralization| |regulation of carbohydrate biosynthetic process| |nucleobase-containing small molecule biosynthetic process| |regulation of glucose metabolic process| |negative regulation of transmembrane transport| |regulation of fat cell differentiation| |vitamin metabolic process| |organophosphate catabolic process| |nucleoside bisphosphate metabolic process| |ribonucleoside bisphosphate metabolic process| |purine nucleoside bisphosphate metabolic process| |regulation of cellular carbohydrate metabolic process| |regulation of generation of precursor metabolites and energy| |inorganic anion transport| |cellular response to insulin stimulus| |maintenance of location| |negative regulation of cell growth| |regulation of ossification| |nucleic acid binding| |basolateral plasma membrane| |ATP metabolic process| |regulation of carbohydrate metabolic process| |response to insulin| |negative regulation of growth| |cellular response to peptide hormone stimulus| |nucleic acid phosphodiester bond hydrolysis| |lysosomal membrane| |purine ribonucleotide metabolic process| |lipid localization| |cellular response to peptide| |ribonucleotide metabolic process| |purine nucleotide metabolic process| |ribose phosphate metabolic process| |sulfur compound metabolic process| |purine-containing compound metabolic process| |nucleobase-containing compound catabolic process| |response to peptide hormone| |negative regulation of protein phosphorylation| |regulation of cell growth| |generation of precursor metabolites and energy| |regulation of small molecule metabolic process| |regulation of DNA-binding transcription factor activity| |heterocycle catabolic process| |cellular nitrogen compound catabolic process| |aromatic compound catabolic process| |negative regulation of phosphorylation| |nucleotide metabolic process| |nucleoside phosphate metabolic process| |response to peptide| |organic cyclic compound catabolic process| |negative regulation of transport| |drug metabolic process| |nucleobase-containing small molecule metabolic process| |endocytosis| |negative regulation of phosphate metabolic process| |negative regulation of phosphorus metabolic process| |regulation of transmembrane transport| |anion transport| |small molecule biosynthetic process| |negative regulation of protein modification process| |cellular response to organonitrogen compound| |cellular response to hormone stimulus| |cell surface| |cellular ion homeostasis| |cellular response to nitrogen compound| |regulation of growth| |import into cell| |negative regulation of cell differentiation| |inorganic ion homeostasis| |calcium ion binding| |cellular chemical homeostasis| |ion homeostasis| |zinc ion binding| |protein homodimerization activity| |organophosphate metabolic process| |cellular homeostasis| |response to hormone| |negative regulation of developmental process| |response to organonitrogen compound| |oxoacid metabolic process| |organic acid metabolic process| |carbohydrate derivative metabolic process| |negative regulation of cellular protein metabolic process| |cellular response to oxygen-containing compound| |response to nitrogen compound| |nucleobase-containing compound biosynthetic process| |negative regulation of protein metabolic process| |chemical homeostasis| |heterocycle biosynthetic process| |aromatic compound biosynthetic process| |negative regulation of multicellular organismal process| |cellular response to endogenous stimulus| |negative regulation of signal transduction| |organic cyclic compound biosynthetic process| |negative regulation of cell communication| |negative regulation of signaling| |ion transport| |negative regulation of cellular macromolecule biosynthetic process| |integral component of plasma membrane| |regulation of protein phosphorylation| |negative regulation of macromolecule biosynthetic process| |response to endogenous stimulus| |ATP binding| |negative regulation of cellular biosynthetic process| |negative regulation of biosynthetic process| |response to oxygen-containing compound| |regulation of phosphorylation| |extracellular space| |negative regulation of response to stimulus| |cellular nitrogen compound biosynthetic process| |homeostatic process| |small molecule metabolic process| |tissue development| |organic substance catabolic process| |regulation of phosphate metabolic process| |regulation of phosphorus metabolic process| |cellular catabolic process| |regulation of cell differentiation| |regulation of protein modification process| |regulation of transport| |immune response| |vesicle-mediated transport| </modal> \\ === CRISPR Data === <button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> ^Screen^Score^ |[[:results:exp1|5-Fluorouracil 2μM R00 exp1]]|-1.75| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 12756 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 2.05 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='ENPP1 Expression in NALM6 Cells: 2.05'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1