Ectonucleotide Pyrophosphatase, Phosphodiesterase 1 (ENPP1) Antibody

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]

ENPP1: Involved primarily in ATP hydrolysis at the plasma membrane. Plays a role in regulating pyrophosphate levels, and functions in bone mineralization and soft tissue calcification. In vitro, has a broad specificity, hydrolyzing 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. Homodimer; disulfide-linked. Interacts with INSR. Expressed in plasma cells and also in a number of non-lymphoid tissues, including the distal convoluted tubule of the kidney, chondrocytes and epididymis. At low concentrations of ATP, a phosphorylated intermediate is formed which inhibits further hydrolysis. Belongs to the nucleotide pyrophosphatase/phosphodiesterase family.

Protein type: Membrane protein, integral; Nucleotide Metabolism - purine; Cofactor and Vitamin Metabolism - riboflavin; Carbohydrate Metabolism - starch and sucrose; Cofactor and Vitamin Metabolism - nicotinate and nicotinamide; Cofactor and Vitamin Metabolism - pantothenate and CoA biosynthesis; EC 3.6.1.9; Motility/polarity/chemotaxis; Phosphodiesterase; EC 3.1.4.1; Phosphatase (non-protein)

Chromosomal Location of Human Ortholog: 6q22-q23

Cellular Component: extracellular space; cell surface; integral to plasma membrane; basolateral plasma membrane; lysosomal membrane; plasma membrane; integral to membrane

Molecular Function: phosphodiesterase I activity; protein binding; nucleotide diphosphatase activity; protein homodimerization activity; 3'-phosphoadenosine 5'-phosphosulfate binding; nucleic acid binding; zinc ion binding; calcium ion binding; nucleoside-triphosphate diphosphatase activity; insulin receptor binding; scavenger receptor activity; ATP binding; polysaccharide binding

Biological Process: receptor-mediated endocytosis; sequestering of triacylglycerol; generation of precursor metabolites and energy; vitamin metabolic process; nucleoside triphosphate catabolic process; negative regulation of insulin receptor signaling pathway; bone remodeling; negative regulation of fat cell differentiation; phosphate metabolic process; 3'-phosphoadenosine 5'-phosphosulfate metabolic process; riboflavin metabolic process; negative regulation of glucose import; cellular phosphate ion homeostasis; cellular response to insulin stimulus; biomineral formation; negative regulation of ossification; immune response; negative regulation of protein amino acid autophosphorylation; negative regulation of cell growth; regulation of bone mineralization; water-soluble vitamin metabolic process; inorganic diphosphate transport; negative regulation of glycogen biosynthetic process

Disease: Obesity; Cole Disease; Arterial Calcification, Generalized, Of Infancy, 1; Hypophosphatemic Rickets, Autosomal Recessive, 2; Diabetes Mellitus, Noninsulin-dependent