| Function: |
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. |
| Tissue Specificity: |
Expressed in plasma cells and also in a number of non-lymphoid tissues, including the distal convoluted tubule of the kidney, chondrocytes and epididymis. |
| Involvement in Disease: |
Ossification of the posterior longitudinal ligament of the spine: A calcification of the posterior longitudinal ligament of the spinal column, usually at the level of the cervical spine. Patients with OPLL frequently present with a severe myelopathy that can lead to tetraparesis.
Arterial calcification of infancy, generalized, 1: A severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. The disorder is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure.
Diabetes mellitus, non-insulin-dependent: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
Hypophosphatemic rickets, autosomal recessive, 2: A hereditary form of hypophosphatemic rickets, a disorder of proximal renal tubule function that causes phosphate loss, hypophosphatemia and skeletal deformities, including rickets and osteomalacia unresponsive to vitamin D. Symptoms are bone pain, fractures and growth abnormalities.
Cole disease: A rare autosomal dominant genodermatosis characterized by punctate keratoderma associated with irregularly shaped hypopigmented macules, which are typically found over the arms and legs but not the trunk or acral regions. Skin biopsies of palmoplantar lesions show hyperorthokeratosis, hypergranulosis, and acanthosis. Hypopigmented areas of skin, however, reveal a reduction in melanin content in keratinocytes but not in melanocytes, as well as hyperkeratosis and a normal number of melanocytes. Ultrastructurally, melanocytes show a disproportionately large number of melanosomes in the cytoplasm and dendrites, whereas keratinocytes show a paucity of these organelles, suggestive of impaired melanosome transfer. Some patients also exhibit calcinosis cutis or calcific tendinopathy. |
| Sequence Similarities: |
Belongs to the nucleotide pyrophosphatase/phosphodiesterase family. |
| Post-Translational Modification: |
Autophosphorylated as part of the catalytic cycle of phosphodiesterase/pyrophosphatase activity. |
| Cellular Location: |
Cell membrane. Basolateral cell membrane. Secreted.
The proteolytically processed form is secreted (By similarity). Targeted to the basolateral membrane in polarized epithelial cells and in hepatocytes, and to matrix vesicles in osteoblasts. In bile duct cells and cancer cells, located to the apical cytoplasmic side. |
| Database Links: |
Entrez Gene: 5167?HumanOmim: 173335?HumanSwissProt: P22413?HumanUnigene: 527295?Human |
| Synonyms: |
Alkaline phosphodiesterase 1 AntibodyARHR2 AntibodyCOLED AntibodyE-NPP 1 AntibodyEctonucleotide pyrophosphatase/phosphodiesterase 1 AntibodyEctonucleotide pyrophosphatase/phosphodiesterase family member 1 AntibodyENPP1 AntibodyENPP1_HUMAN AntibodyLy 41 antigen AntibodyM6S1 AntibodyMembrane component chromosome 6 surface marker 1 AntibodyNPP1 AntibodyNPPase AntibodyNPPS AntibodyNucleotide pyrophosphatase AntibodyPC-1 AntibodyPCA1 AntibodyPDNP1 AntibodyPhosphodiesterase I/nucleotide pyrophosphatase 1 AntibodyPlasma cell membrane glycoprotein 1 AntibodyPlasma-cell membrane glycoprotein PC-1 Antibody |
| Information: |
Target information shown above is from the UniProt Consortium. |
