{ "uniprot_canonical_ac": "P25353-1", "uniprot_ac": "P25353", "uniprot_id": "NPP1_YEAST", "mass": { "chemical_mass": 84734.0, "monoisotopic_mass": 84734.0 }, "refseq": { "ac": "NP_009955", "name": "nucleotide diphosphatase/phosphodiesterase NPP1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009955" }, "gene_names": [ { "name": "NPP1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P25353", "id": "P25353" }, { "name": "NPP1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009955", "id": "NP_009955" }, { "name": "YCR246", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P25353", "id": "P25353" }, { "name": "YCR26C", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P25353", "id": "P25353" } ], "protein_names": [ { "name": "Ectonucleotide pyrophosphatase/phosphodiesterase 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P25353" }, { "name": "E-NPP 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P25353" }, { "name": "Nucleotide diphosphatase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P25353" }, { "name": "nucleotide diphosphatase/phosphodiesterase NPP1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009955", "id": "NP_009955" } ], "function": [ { "annotation": "Mediates extracellular nucleotide derived phosphate hydrolysis along with NPP2 and PHO5.", "evidence": [ { "database": "UniProtKB", "id": "P25353", "url": "https://www.uniprot.org/uniprot/P25353#function" }, { "database": "PubMed", "id": "16278456", "url": "https://glygen.org/publication/PubMed/16278456" } ] } ], "disease": [ { "disease_id": "DOID:0050644", "recommended_name": { "id": "DOID:0050644", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050644", "name": "arterial calcification of infancy", "description": "A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall." }, "synonyms": [ { "id": "DOID:0050644", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050644", "name": "generalized arterial calcification of infancy", "description": "" }, { "id": "DOID:0050644", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050644", "name": "idiopathic infantile arterial calcification", "description": "" }, { "id": "DOID:0050644", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050644", "name": "infantile arteriosclerosis", "description": "" }, { "id": "MONDO:0013768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013768", "name": "arterial calcification, generalized, of infancy, 2", "description": "Any arterial calcification of infancy in which the cause of the disease is a mutation in the ABCC6 gene." }, { "id": "MONDO:0013768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013768", "name": "ABCC6 arterial calcification of infancy", "description": "" }, { "id": "MONDO:0013768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013768", "name": "arterial calcification of infancy caused by mutation in ABCC6", "description": "" }, { "id": "MONDO:0013768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013768", "name": "arterial calcification, generalized, of infancy, 2", "description": "" }, { "id": "MONDO:0013768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013768", "name": "arterial calcification, generalized, of infancy, type 2", "description": "" }, { "id": "MONDO:0013768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013768", "name": "GACI2", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "arterial calcification, generalized, of infancy, 1", "description": "An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by calcification and narrowing of medium- and large-sized arteries, resulting in cardiovascular complications." }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "ENPP1 arterial calcification of infancy", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "arterial calcification of infancy caused by mutation in ENPP1", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "arterial calcification, generalized, of infancy, 1", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "arterial calcification, generalized, of infancy, type 1", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "generalised arterial calcification of infancy 1", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "generalized arterial calcification of infancy 1", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "GACI1", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "Gaci", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "arterial calcification, idiopathic infantile", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "arteriopathy, occlusive infantile", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "coronary sclerosis, medial, of infancy", "description": "" }, { "id": "MONDO:0008817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008817", "name": "idiopathic infantile arterial calcification", "description": "" }, { "id": "MIM:614473", "resource": "MIM", "url": "https://www.omim.org/entry/614473", "name": "Arterial calcification of infancy, generalized, 2", "description": "Arterial calcification of infancy, generalized, 2" }, { "id": "MIM:208000", "resource": "MIM", "url": "https://www.omim.org/entry/208000", "name": "Arterial calcification of infancy, generalized, 1", "description": "Arterial calcification of infancy, generalized, 1" } ], "evidence": [ { "id": "0050644", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050644" } ] }, { "disease_id": "DOID:0060887", "recommended_name": { "id": "DOID:0060887", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060887", "name": "ossification of the posterior longitudinal ligament of spine", "description": "A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia." }, "synonyms": [ { "id": "DOID:0060887", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060887", "name": "OPLL", "description": "" }, { "id": "MONDO:0011230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011230", "name": "ossification of the posterior longitudinal ligament of the spine", "description": "A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms." }, { "id": "MONDO:0011230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011230", "name": "OPLL", "description": "" }, { "id": "MONDO:0011230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011230", "name": "ossification of Posterior longitudinal ligament", "description": "" }, { "id": "MONDO:0011230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011230", "name": "ossification of the POSTERIOR longitudinal ligament of spine", "description": "" }, { "id": "MIM:602475", "resource": "MIM", "url": "https://www.omim.org/entry/602475", "name": "Ossification of the posterior longitudinal ligament of the spine", "description": "Ossification of the posterior longitudinal ligament of the spine" } ], "evidence": [ { "id": "0060887", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060887" } ] }, { "disease_id": "DOID:0080333", "recommended_name": { "id": "DOID:0080333", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080333", "name": "aortic valve disease 1", "description": "A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the NOTCH1 gene on chromosome 9q34." }, "synonyms": [ { "id": "MONDO:0024523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024523", "name": "aortic valve disease 1", "description": "Any aortic valve disease in which the cause of the disease is a mutation in the NOTCH1 gene." }, { "id": "MONDO:0024523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024523", "name": "AOVD1", "description": "" }, { "id": "MONDO:0024523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024523", "name": "NOTCH1 aortic valve disease", "description": "" }, { "id": "MONDO:0024523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024523", "name": "Notch1 aortic valve disease", "description": "" }, { "id": "MONDO:0024523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024523", "name": "aortic valve disease 1", "description": "" }, { "id": "MONDO:0024523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024523", "name": "aortic valve disease caused by mutation in NOTCH1", "description": "" }, { "id": "MONDO:0024523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024523", "name": "aortic valve disease caused by mutation in Notch1", "description": "" }, { "id": "MONDO:0024523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024523", "name": "aortic stenosis, calcific", "description": "" }, { "id": "MONDO:0024523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024523", "name": "aortic valve disease", "description": "" }, { "id": "MONDO:0024523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024523", "name": "aortic valve, bicuspid", "description": "" }, { "id": "MONDO:0024523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024523", "name": "aortic valve, calcification of", "description": "" }, { "id": "MONDO:0024523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024523", "name": "bicuspid aortic valve", "description": "" }, { "id": "MIM:109730", "resource": "MIM", "url": "https://www.omim.org/entry/109730", "name": "Aortic valve disease 1", "description": "Aortic valve disease 1" } ], "evidence": [ { "id": "0080333", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080333" } ] }, { "disease_id": "DOID:10754", "recommended_name": { "id": "DOID:10754", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear." }, "synonyms": [], "evidence": [ { "id": "10754", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ] }, { "disease_id": "DOID:1123", "recommended_name": { "id": "DOID:1123", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1123", "name": "spondyloarthropathy", "description": "" }, "synonyms": [ { "id": "DOID:1123", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1123", "name": "spondarthropathy", "description": "" }, { "id": "DOID:1123", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1123", "name": "spondylarthrosis", "description": "" } ], "evidence": [ { "id": "1123", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1123" } ] }, { "disease_id": "DOID:1214", "recommended_name": { "id": "DOID:1214", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1214", "name": "tympanosclerosis", "description": "" }, "synonyms": [], "evidence": [ { "id": "1214", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1214" } ] }, { "disease_id": "DOID:1287", "recommended_name": { "id": "DOID:1287", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis." }, "synonyms": [ { "id": "DOID:1287", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1287", "name": "disease of subdivision of hemolymphoid system", "description": "" } ], "evidence": [ { "id": "1287", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ] }, { "disease_id": "DOID:2738", "recommended_name": { "id": "DOID:2738", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2738", "name": "pseudoxanthoma elasticum", "description": "A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system." }, "synonyms": [ { "id": "DOID:2738", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2738", "name": "Gronblad-Strandberg syndrome", "description": "" }, { "id": "MONDO:0008333", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008333", "name": "pseudoxanthoma elasticum, forme fruste", "description": "An autosomal dominant form of PXE." }, { "id": "MONDO:0008333", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008333", "name": "pseudoxanthoma elasticum, forme fruste", "description": "" }, { "id": "MONDO:0008333", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008333", "name": "pseudoxanthoma elasticum, heterozygous", "description": "" }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "autosomal recessive inherited pseudoxanthoma elasticum", "description": "An autosomal recessive form of PXE." }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "AR inherited pseudoxanthoma elasticum", "description": "" }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "Gronblad-Strandberg syndrome", "description": "" }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "Gronblad-Strandberg-Touraine syndrome", "description": "" }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "PXE", "description": "" }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "Gronblad Strandberg syndrome", "description": "" }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "PXE, modifier of severity of", "description": "" }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "pseudoxanthoma elasticum", "description": "" }, { "id": "MONDO:0009925", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009925", "name": "pseudoxanthoma elasticum, modifier of severity of", "description": "" }, { "id": "MIM:264800", "resource": "MIM", "url": "https://www.omim.org/entry/264800", "name": "Pseudoxanthoma elasticum", "description": "Pseudoxanthoma elasticum" } ], "evidence": [ { "id": "2738", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2738" } ] }, { "disease_id": "DOID:3068", "recommended_name": { "id": "DOID:3068", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes." }, "synonyms": [ { "id": "DOID:3068", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3068", "name": "glioblastoma multiforme", "description": "" }, { "id": "DOID:3068", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3068", "name": "GBM", "description": "" }, { "id": "DOID:3068", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3068", "name": "adult glioblastoma multiforme", "description": "" }, { "id": "DOID:3068", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3068", "name": "grade IV adult Astrocytic tumor", "description": "" }, { "id": "DOID:3068", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3068", "name": "primary glioblastoma multiforme", "description": "" }, { "id": "DOID:3068", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3068", "name": "spongioblastoma multiforme", "description": "" } ], "evidence": [ { "id": "3068", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ] }, { "disease_id": "DOID:783", "recommended_name": { "id": "DOID:783", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease." }, "synonyms": [ { "id": "DOID:783", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:783", "name": "end stage renal failure", "description": "" }, { "id": "DOID:783", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:783", "name": "end-stage kidney disease", "description": "" } ], "evidence": [ { "id": "783", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:783" } ] }, { "disease_id": "DOID:8398", "recommended_name": { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint." }, "synonyms": [ { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "Osteoarthrosis and allied disorder", "description": "" }, { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "degenerative arthritis", "description": "" }, { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "degenerative joint disease", "description": "" }, { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "hypertrophic arthritis", "description": "" }, { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "osteoarthrosis", "description": "" } ], "evidence": [ { "id": "8398", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ] }, { "disease_id": "DOID:9352", "recommended_name": { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin." }, "synonyms": [ { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "NIDDM", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "non-insulin-dependent diabetes mellitus", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type 2 diabetes", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type II diabetes mellitus", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "insulin resistance", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, type 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "Niddm4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "noninsulin-dependent diabetes mellitus 4", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus", "description": "A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "NIDDM", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "T2DM - type 2 diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "adult onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "adult-onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitis type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitis type II", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, association with", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, late onset", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 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"resource": "MIM", "url": "https://www.omim.org/entry/601283", "name": "Type 2 diabetes mellitus 1", "description": "Type 2 diabetes mellitus 1" } ], "evidence": [ { "id": "9352", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ] }, { "disease_id": "DOID:9970", "recommended_name": { "id": "DOID:9970", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness." }, "synonyms": [ { "id": "MONDO:0019182", "resource": "MONDO", "url": 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"https://www.ncbi.nlm.nih.gov/gene/850391", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR002591", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002591", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017850", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017850", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "sce:YCR026C", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+sce:YCR026C", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "NINEVYH", "url": "https://omabrowser.org/oma/group/NINEVYH/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1366859at2759", "url": "http://www.orthodb.org/?query=1366859at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10151", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10151", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10151:SF120", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10151:SF120", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF01663", "url": "http://pfam.xfam.org/family/PF01663", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_P25353", "url": "http://purl.obolibrary.org/obo/PR_P25353", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_009955", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009955", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "S000000621", "url": "https://www.yeastgenome.org/locus/S000000621", "database": "SGD", "categories": [ "Organism-specific" ] }, { "id": "P25353", "url": "https://www.uniprot.org/uniprot/P25353", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P25353-1", "url": "https://www.uniprot.org/uniprot/P25353-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MELQNDLESLDNELNDFSEDPFRDDFITDEDAVRSGWRSAWTRMKYWFYKNRLKWTNNPIVIGDAKDSRDGSNFRRGIPLYELDANGQPIDTELVDENELSFGTGFHSKVPFKIIFRTLFGSLVFAIFLILMINIAKPHHSTRVLSHFGSPEFDPYVKYFNGTHEFFPLTIVISLDGFHPSLISKRNTPFLHDLYELKYDGGMNITSTPFMVPSFPTETFPNHWTLVTGQYPIHHGIVSNVFWDPDLNEEFHPGVLDPRIWNNNDTEPIWQTVQSAFDGDIPFKAATHMWPGSDVNYTKYNEEKLQPEHKNPIARERTPFYFDEFNAKEPLSQKLSKIIEYVDMSTLNERPQLILGYVPNVDAFGHKHGYPSESEYYYEDFTETLGEVDTFLKQLVESLQERNLTSFTNLVIVSDHGMSDIVVPSNVIIWEDLLDEKLRKDYVSHAYLEGPMMAISLKDSGNINEVYHNLKTSIDEDKYTVYVNGNFPKEWNFNDGKNHHMASIWIVPEPGYAVMKKEQLKKVAKGDHKDKNEDNVFTIGSHGYDNNAIDMRSVFIGMGPYFPQGYIEPFQNTEIYNLLCDICGVAEKDRNSNDGTGMLMNQLREPQSSEEVEIEDDFDYLVSKFGEFSTYNIIWGGYPEETEQDNVDNDNDDNDDGNTDEIAAMPSSSLTIKLEMTTSIPSATETLLGETSPSSRSSSSSSIQASATASTVGDWLQDIINDAKDLIDDIIDSIDDLVDSDT", "length": 742, "header": "sp|P25353-1|NPP1_YEAST Isoform 1 of Ectonucleotide pyrophosphatase/phosphodiesterase 1 OS=Saccharomyces cerevisiae S288C OX=559292 GN=NPP1 PE=1 SV=2 CANONICAL=P25353-1" }, "isoforms": [ { "isoform_ac": "P25353-1", "url": "", "sequence": { "sequence": "MELQNDLESLDNELNDFSEDPFRDDFITDEDAVRSGWRSAWTRMKYWFYKNRLKWTNNPIVIGDAKDSRDGSNFRRGIPLYELDANGQPIDTELVDENELSFGTGFHSKVPFKIIFRTLFGSLVFAIFLILMINIAKPHHSTRVLSHFGSPEFDPYVKYFNGTHEFFPLTIVISLDGFHPSLISKRNTPFLHDLYELKYDGGMNITSTPFMVPSFPTETFPNHWTLVTGQYPIHHGIVSNVFWDPDLNEEFHPGVLDPRIWNNNDTEPIWQTVQSAFDGDIPFKAATHMWPGSDVNYTKYNEEKLQPEHKNPIARERTPFYFDEFNAKEPLSQKLSKIIEYVDMSTLNERPQLILGYVPNVDAFGHKHGYPSESEYYYEDFTETLGEVDTFLKQLVESLQERNLTSFTNLVIVSDHGMSDIVVPSNVIIWEDLLDEKLRKDYVSHAYLEGPMMAISLKDSGNINEVYHNLKTSIDEDKYTVYVNGNFPKEWNFNDGKNHHMASIWIVPEPGYAVMKKEQLKKVAKGDHKDKNEDNVFTIGSHGYDNNAIDMRSVFIGMGPYFPQGYIEPFQNTEIYNLLCDICGVAEKDRNSNDGTGMLMNQLREPQSSEEVEIEDDFDYLVSKFGEFSTYNIIWGGYPEETEQDNVDNDNDDNDDGNTDEIAAMPSSSLTIKLEMTTSIPSATETLLGETSPSSRSSSSSSIQASATASTVGDWLQDIINDAKDLIDDIIDSIDDLVDSDT", "length": 742, "header": "sp|P25353-1|NPP1_YEAST Isoform 1 of Ectonucleotide pyrophosphatase/phosphodiesterase 1 OS=Saccharomyces cerevisiae S288C OX=559292 GN=NPP1 PE=1 SV=2 CANONICAL=P25353-1" }, "locus": { "chromosome": "III", "start_pos": 166339, "end_pos": 164114, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "YCR026C_mRNA", "url": "https://www.ensembl.org/id/YCR026C_mRNA" }, { "database": "Ensembl Peptide", "id": "YCR026C", "url": "https://www.ensembl.org/id/YCR026C" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 161, "start_aa": "Asn", "end_pos": 161, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn161", "evidence": [ { "id": "P25353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P25353#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 204, "start_aa": "Asn", "end_pos": 204, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn204", "evidence": [ { "id": "P25353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P25353#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 264, "start_aa": "Asn", "end_pos": 264, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn264", "evidence": [ { "id": "P25353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P25353#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 296, "start_aa": "Asn", "end_pos": 296, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn296", "evidence": [ { "id": "P25353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P25353#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 403, "start_aa": "Asn", "end_pos": 403, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn403", "evidence": [ { "id": "P25353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P25353#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 118, "end_pos": 118, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "SGD", "id": "P25353", "url": "https://www.yeastgenome.org/locus/P25353" }, { "database": "iPTMnet", "id": "P25353", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P25353" }, { "database": "PubMed", "id": "23749301", "url": "https://glygen.org/publication/PubMed/23749301" } ], "site_lbl": "Thr118" }, { "start_pos": 122, "end_pos": 122, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "SGD", "id": "P25353", "url": "https://www.yeastgenome.org/locus/P25353" }, { "database": "iPTMnet", "id": "P25353", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P25353" }, { "database": "PubMed", "id": "23749301", "url": "https://glygen.org/publication/PubMed/23749301" } ], "site_lbl": "Ser122" }, { "start_pos": 9, "end_pos": 9, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P25353", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P25353" }, { "database": "PubMed", "id": "18407956", "url": "https://glygen.org/publication/PubMed/18407956" }, { "database": "SGD", "id": "P25353", "url": "https://www.yeastgenome.org/locus/P25353" } ], "site_lbl": "Ser9" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Global analysis of protein expression in yeast.", "journal": "Nature", "date": "2003", "authors": "Dephoure N., Weissman J.S., Howson R.W., Huh W.-K., O'Shea E.K., Belle A., Bower K., Ghaemmaghami S.", "evidence": [ { "database": "UniProtKB", "id": "P25353", "url": "https://www.uniprot.org/uniprot/P25353" } ], "reference": [ { "type": "PubMed", "id": "14562106", "url": "https://glygen.org/publication/PubMed/14562106" } ] }, { "title": "The complete DNA sequence of yeast chromosome III.", "journal": "Nature", "date": "1992", "authors": "Duesterhoeft A., Mewes H.-W., Schweitzer B., Wang H., Brown A., Lanfranchi G., Rodriguez F., Valle G., Wilson C., Kelly A., Xu G., Huse K., Jia Y., Planta R.J., Vreken P., Benit P., Jacquet M., Plevani P., Hohmann S., Antoine G., Roberts A.B., Fukuhara H., Lewis C., Molemans F., Shu Y., Esteban M., Feldmann H., Delgado M.D., Isono K., Fiers W., Mallet L., Jimenez A., Jauniaux J.-C., Dubois E., Pallier C., Volckaert G., Lucchini G., Newlon C.S., Sor F., Faye G., Anwar R., Haasemann M., Iborra F., Slonimski P.P., Hoenicka J., Vetter I., Thierry A., Yoshikawa A., Hollenberg C.P., Contreras R., Philippsen P., Martegani E., Gigot D., Alberghina L., Hatat D., Brown A.J.P., James C.M., Pearson B.M., Mathieu A., Sanz E., Steiner S., Ballesta J.P.G., Buhler J.-M., Carignani G., Cederberg H., Crouzet M., Daignan-Fornier B., Dujon B., Gilliquet V., Glansdorff N., Goffeau A., Grenson M., Grivell L.A., Hegemann J.H., Herbert C.J., Hilger F., Jacq C., Mannhaupt G., Messenguy F., Muzi Falconi M., Oliver S.G., Perea J., Pierard A., Remacha M.A., Schaaff-Gerstenschlaeger I., Scherens B., Steensma H.Y., Wurst H., Zimmermann F.K., Alexandraki D., Berben G., Bolotin-Fukuhara M., Chanet R., Fabre F., Fairhead C., Frontali L., Purnelle B., Ramezani Rad M., Skala J., Tzermia M., Urrestarazu L.A., Voet M., Agostoni-Carbone M.L., Aigle M., Bergantino E., Biteau N., Bolle P.-A., Carcano C., Defoor E., Demolder J., Doira C., Erdmann D., Francingues-Gaillard M.-C., Franco L., Fuller L.J., Galland P., Gent M.E., Grisanti P., Indge 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"site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 8 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }