Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1 (ENPP1) ELISA Kit for Human

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]

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

Chromosomal Location of Human Ortholog: 6q22-q23

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

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

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

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