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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
CD markers Disease related genes Enzymes Human disease related genes Metabolic proteins Potential drug targets
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
6
Cytoband
q23.2
Chromosome location (bp)
131808016 - 131895155
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Nucleotide pyrophosphatase that generates diphosphate (PPi) and functions in bone mineralization and soft tissue calcification by regulating pyrophosphate levels (By similarity). PPi inhibits bone mineralization and soft tissue calcification by binding to nascent hydroxyapatite crystals, thereby preventing further growth of these crystals 1. Preferentially hydrolyzes ATP, but can also hydrolyze other nucleoside 5' triphosphates such as GTP, CTP and UTP to their corresponding monophosphates with release of pyrophosphate, as well as diadenosine polyphosphates, and also 3',5'-cAMP to AMP 2,3,4,5,6. 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 7,8. Inhibits ectopic joint calcification and maintains articular chondrocytes by repressing hedgehog signaling; it is however unclear whether hedgehog inhibition is direct or indirect (By similarity). Appears to modulate insulin sensitivity and function 9. Also involved in melanogenesis 10. Also able to hydrolyze 2',3'-cGAMP (cyclic GMP-AMP), a second messenger that activates TMEM173/STING and triggers type-I interferon production 11. 2',3'-cGAMP degradation takes place in the lumen or extracellular space, and not in the cytosol where it is produced; the role of 2',3'-cGAMP hydrolysis is therefore unclear 12. Not able to hydrolyze the 2',3'-cGAMP linkage isomer 3'-3'-cGAMP 13....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Hydrolase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Biomineralization
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Calcium, Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
P22413 [Direct mapping] Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 Alkaline phosphodiesterase I Nucleotide pyrophosphatase Ectonucleotide pyrophosphatase/phosphodiesterase family member 1, secreted form
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Enzymes ENZYME proteins Hydrolases Metabolic proteins CD markers Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Predicted secreted proteins Disease related genes Potential drug targets Human disease related genes Cardiovascular diseases Vascular diseases Congenital disorders of metabolism Congenital disorders of ion transport and metabolism Endocrine and metabolic diseases Diabetes Other endocrine and metabolic diseases Musculoskeletal diseases Skeletal diseases Skin diseases Skin and soft tissue diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
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GO:0003676[nucleic acid binding] GO:0004115[3',5'-cyclic-AMP phosphodiesterase activity] GO:0004527[exonuclease activity] GO:0004528[phosphodiesterase I activity] GO:0004551[dinucleotide phosphatase activity] GO:0005044[scavenger receptor activity] GO:0005158[insulin receptor binding] GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005765[lysosomal membrane] GO:0005886[plasma membrane] GO:0006091[generation of precursor metabolites and energy] GO:0006796[phosphate-containing compound metabolic process] GO:0006807[nitrogen compound metabolic process] GO:0006897[endocytosis] GO:0006955[immune response] GO:0008270[zinc ion binding] GO:0009143[nucleoside triphosphate catabolic process] GO:0009986[cell surface] GO:0010035[response to inorganic substance] GO:0010467[gene expression] GO:0016020[membrane] GO:0016323[basolateral plasma membrane] GO:0016787[hydrolase activity] GO:0016788[hydrolase activity, acting on ester bonds] GO:0016791[phosphatase activity] GO:0030247[polysaccharide binding] GO:0030282[bone mineralization] GO:0030308[negative regulation of cell growth] GO:0030318[melanocyte differentiation] GO:0030500[regulation of bone mineralization] GO:0030502[negative regulation of bone mineralization] GO:0030505[inorganic diphosphate transport] GO:0030643[cellular phosphate ion homeostasis] GO:0030730[sequestering of triglyceride] GO:0031214[biomineral tissue development] GO:0031953[negative regulation of protein autophosphorylation] GO:0032869[cellular response to insulin stimulus] GO:0033198[response to ATP] GO:0036219[GTP diphosphatase activity] GO:0036221[UTP diphosphatase activity] GO:0042803[protein homodimerization activity] GO:0044238[primary metabolic process] GO:0045599[negative regulation of fat cell differentiation] GO:0045719[negative regulation of glycogen biosynthetic process] GO:0046034[ATP metabolic process] GO:0046325[negative regulation of glucose import] GO:0046627[negative regulation of insulin receptor signaling pathway] GO:0046872[metal ion binding] GO:0047429[nucleoside triphosphate diphosphatase activity] GO:0047693[ATP diphosphatase activity] GO:0050427[3'-phosphoadenosine 5'-phosphosulfate metabolic process] GO:0050656[3'-phosphoadenosine 5'-phosphosulfate binding] GO:0055062[phosphate ion homeostasis] GO:0071704[organic substance metabolic process] GO:0090305[nucleic acid phosphodiester bond hydrolysis] GO:0106177[cyclic-GMP-AMP hydrolase activity] GO:0110165[cellular anatomical entity] GO:1990787[negative regulation of hh target transcription factor activity]
The Human Protein Atlas project is funded
