{ "uniprot_canonical_ac": "Q6GQT1-1", "uniprot_ac": "Q6GQT1", "uniprot_id": "A2MG_MOUSE", "mass": { "chemical_mass": 164353.0, "monoisotopic_mass": 164353.0 }, "refseq": { "ac": "NP_783327", "name": "alpha-2-macroglobulin-P precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_783327" }, "gene_names": [ { "name": "A2m", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q6GQT1", "id": "Q6GQT1" }, { "name": "A2mp", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_783327", "id": "NP_783327" }, { "name": "A2mp", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q6GQT1", "id": "Q6GQT1" }, { "name": "A2m", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_783327", "id": "NP_783327" } ], "protein_names": [ { "name": "Alpha-2-macroglobulin-P", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q6GQT1" }, { "name": "Alpha-2-macroglobulin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q6GQT1" }, { "name": "alpha-2-macroglobulin-P precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_783327", "id": "NP_783327" }, { "name": "alpha-2-macroglobulin-P", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_783327", "id": "NP_783327" } ], "function": [ { "annotation": "Is able to inhibit all four classes of proteinases by a unique 'trapping' mechanism. This protein has a peptide stretch, called the 'bait region' which contains specific cleavage sites for different proteinases. When a proteinase cleaves the bait region, a conformational change is induced in the protein which traps the proteinase. The entrapped enzyme remains active against low molecular weight substrates (activity against high molecular weight substrates is greatly reduced). Following cleavage in the bait region a thioester bond is hydrolyzed and mediates the covalent binding of the protein to the proteinase (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT1", "url": "https://www.uniprot.org/uniprot/Q6GQT1#function" }, { "database": "UniProtKB", "id": "P01023", "url": "https://www.uniprot.org/uniprot/P01023#function" } ] } ], "disease": [ { "disease_id": "DOID:0050868", "recommended_name": { "id": "DOID:0050868", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050868", "name": "hepatocellular adenoma", "description": "A liver benign neoplasm that is located_in liver cells and that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures." }, "synonyms": [], "evidence": [ { "id": "0050868", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050868" } ] }, { "disease_id": "DOID:0080600", "recommended_name": { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infection that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2." }, "synonyms": [ { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "2019 Novel Coronavirus (2019-nCoV)", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "2019-nCoV infection", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "Wuhan coronavirus infection", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "Wuhan seafood market pneumonia virus infection", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "COVID19", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "SARS-CoV-2 infection", "description": "" } ], "evidence": [ { "id": "0080600", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ] }, { "disease_id": "DOID:10113", "recommended_name": { "id": "DOID:10113", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10113", "name": "trypanosomiasis", "description": "A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans." }, "synonyms": [], "evidence": [ { "id": "10113", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10113" } ] }, { "disease_id": "DOID:10159", "recommended_name": { "id": "DOID:10159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10159", "name": "osteonecrosis", "description": "An ischemic bone disease that results_in necrosis located_in bone." }, "synonyms": [ { "id": "DOID:10159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10159", "name": "Avascular necrosis of bone", "description": "" }, { "id": "DOID:10159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10159", "name": "aseptic necrosis", "description": "" }, { "id": "DOID:10159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10159", "name": "bone necrosis", "description": "" } ], "evidence": [ { "id": "10159", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10159" } ] }, { "disease_id": "DOID:10652", "recommended_name": { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid." }, "synonyms": [ { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimer disease", "description": "" }, { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimers dementia", "description": "" } ], "evidence": [ { "id": "10652", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ] }, { "disease_id": "DOID:10976", "recommended_name": { "id": "DOID:10976", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10976", "name": "membranous glomerulonephritis", "description": "" }, "synonyms": [ { "id": "DOID:10976", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10976", "name": "membranous nephropathy", "description": "" } ], "evidence": [ { "id": "10976", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10976" } ] }, { "disease_id": "DOID:114", "recommended_name": { "id": "DOID:114", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:114", "name": "heart disease", "description": "A cardiovascular system disease that involves the heart." }, "synonyms": [], "evidence": [ { "id": "114", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:114" } ] }, { "disease_id": "DOID:1184", "recommended_name": { "id": "DOID:1184", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1184", "name": "nephrotic syndrome", "description": "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability." }, "synonyms": [], "evidence": [ { "id": "1184", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1184" } ] }, { "disease_id": "DOID:13208", "recommended_name": { "id": "DOID:13208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13208", "name": "background diabetic retinopathy", "description": "" }, "synonyms": [ { "id": "DOID:13208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13208", "name": "Non proliferative diabetic retinopathy", "description": "" }, { "id": "DOID:13208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13208", "name": "Non-Proliferative Diabetic Retinopathy", "description": "" } ], "evidence": [ { "id": "13208", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13208" } ] }, { "disease_id": "DOID:14115", "recommended_name": { "id": "DOID:14115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities." }, "synonyms": [ { "id": "DOID:14115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14115", "name": "TSS", "description": "" }, { "id": "DOID:14115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14115", "name": "toxic shock", "description": "" } ], "evidence": [ { "id": "14115", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "evidence": [ { "id": "14330", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] }, { "disease_id": "DOID:2320", "recommended_name": { "id": "DOID:2320", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2320", "name": "obstructive lung disease", "description": "A lung disease that is characterized by narrowing of pulmonary airways." }, "synonyms": [ { "id": "DOID:2320", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2320", "name": "respiratory airway obstruction", "description": "" } ], "evidence": [ { "id": "2320", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2320" } ] }, { "disease_id": "DOID:2377", "recommended_name": { "id": "DOID:2377", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring." }, "synonyms": [ { "id": "DOID:2377", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2377", "name": "Generalized multiple sclerosis", "description": "" }, { "id": "DOID:2377", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2377", "name": "insular sclerosis", "description": "" }, { "id": "MONDO:0012957", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012957", "name": "multiple sclerosis, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012957", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012957", "name": "MS3", "description": "" }, { "id": "MONDO:0012957", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012957", "name": "multiple sclerosis, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012956", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012956", "name": "multiple sclerosis, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012956", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012956", "name": "MS2", "description": "" }, { "id": "MONDO:0012956", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012956", "name": "multiple sclerosis, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012958", "name": "multiple sclerosis, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012958", "name": "MS4", "description": "" }, { "id": "MONDO:0012958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012958", "name": "multiple sclerosis, susceptibility to, 4", "description": "" }, { "id": "MIM:612595", "resource": "MIM", "url": "https://www.omim.org/entry/612595", "name": "Multiple sclerosis 3", "description": "Multiple sclerosis 3" } ], "evidence": [ { "id": "2377", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ] }, { "disease_id": "DOID:3526", "recommended_name": { "id": "DOID:3526", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain." }, "synonyms": [ { "id": "DOID:3526", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3526", "name": "CVA - Cerebral infarction", "description": "" }, { "id": "DOID:3526", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3526", "name": "Cerebral infarct", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "obsolete susceptibility to ischemic stroke", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "cerebral infarction, susceptibility to", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "ischemic stroke, susceptibility to", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "stroke, ischemic, susceptibility to", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "stroke, susceptibility to", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "cerebral infarction", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "cerebrovascular accident", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "stroke, ischemic", "description": "" }, { "id": "MIM:601367", "resource": "MIM", "url": "https://www.omim.org/entry/601367", "name": "Ischemic stroke", "description": "Ischemic stroke" } ], "evidence": [ { "id": "3526", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ] }, { "disease_id": "DOID:583", "recommended_name": { "id": "DOID:583", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:583", "name": "hemolytic anemia", "description": "" }, "synonyms": [ { "id": "DOID:583", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:583", "name": "ANEMIA HEMOLYTIC", "description": "" }, { "id": "MONDO:0009946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009946", "name": "hemolytic anemia due to pyrimidine 5' nucleotidase deficiency", "description": "Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported." }, { "id": "MONDO:0009946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009946", "name": "P5N deficiency", "description": "" }, { "id": "MONDO:0009946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009946", "name": "UMPH1 deficiency", "description": "" }, { "id": "MONDO:0009946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009946", "name": "anemia, hemolytic, due to UMPH1 deficiency", "description": "" }, { "id": "MONDO:0009946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009946", "name": "uridine 5'-monophosphate hydrolase deficiency", "description": "" }, { "id": "MONDO:0009946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009946", "name": "Umph1 deficiency", "description": "" }, { "id": "MONDO:0009946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009946", "name": "hemolytic Anaemia due to P5N deficiency", "description": "" }, { "id": "MONDO:0009946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009946", "name": "hemolytic Anaemia due to Umph1 deficiency", "description": "" }, { "id": "MONDO:0009946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009946", "name": "hemolytic Anemia due to P5N deficiency", "description": "" }, { "id": "MONDO:0009946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009946", "name": "hemolytic Anemia due to Umph1 deficiency", "description": "" }, { "id": "MONDO:0009946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009946", "name": "pyrimidine 5-prime Nucleotidase deficiency, hemolytic Anaemia due to", "description": "" }, { "id": "MONDO:0009946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009946", "name": "pyrimidine 5-prime Nucleotidase deficiency, hemolytic Anemia due to", "description": "" }, { "id": "MONDO:0009946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009946", "name": "uridine 5-prime monophosphate hydrolase deficiency, hemolytic anaemia due to", "description": "" }, { "id": "MONDO:0009946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009946", "name": "uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to", "description": "" }, { "id": "MONDO:0012967", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012967", "name": "hemolytic anemia due to adenylate kinase deficiency", "description": "Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment." }, { "id": "MONDO:0012967", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012967", "name": "ADENYLATE KINASE deficiency, hemolytic anaemia due to", "description": "" }, { "id": "MONDO:0012967", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012967", "name": "ADENYLATE KINASE deficiency, hemolytic anemia due to", "description": "" }, { "id": "MIM:266120", "resource": "MIM", "url": "https://www.omim.org/entry/266120", "name": "P5N deficiency", "description": "P5N deficiency" }, { "id": "MIM:612631", "resource": "MIM", "url": "https://www.omim.org/entry/612631", "name": "Hemolytic anemia due to adenylate kinase deficiency", "description": "Hemolytic anemia due to adenylate kinase deficiency" } ], "evidence": [ { "id": "583", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:583" } ] }, { "disease_id": "DOID:684", "recommended_name": { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver." }, "synonyms": [ { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "Hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MIM:114550", "resource": "MIM", "url": "https://www.omim.org/entry/114550", "name": "Hepatocellular carcinoma", "description": "Hepatocellular carcinoma" } ], "evidence": [ { "id": "684", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:684" } ] }, { "disease_id": "DOID:8283", "recommended_name": { "id": "DOID:8283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8283", "name": "peritonitis", "description": "A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output." }, "synonyms": [ { "id": "DOID:8283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8283", "name": "Retractile mesenteritis", "description": "" }, { "id": "DOID:8283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8283", "name": "acute generalized peritonitis", "description": "" }, { "id": "DOID:8283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8283", "name": "primary bacterial peritonitis", "description": "" }, { "id": "DOID:8283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8283", "name": "sclerosing mesenteritis", "description": "" } ], "evidence": [ { "id": "8283", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8283" } ] } ], "snv": [ { "evidence": [ { "id": "rs3388834957", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388834957" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1311, "end_pos": 1311, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DYT->NYT).", "chr_id": "6", "chr_pos": "121651864", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1311", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs30709786", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs30709786" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1426, "end_pos": 1426, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQM->NQT).", "chr_id": "6", "chr_pos": "121654954", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M1426", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs3388864039", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388864039" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 355, "end_pos": 355, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KLS->NLS).", "chr_id": "6", "chr_pos": "121622163", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K355", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs3388821609", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388821609" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 461, "end_pos": 461, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SRS->NRS).", "chr_id": "6", "chr_pos": "121625005", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S461", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs3388855317", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388855317" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 62, "end_pos": 62, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NET->YET).", "chr_id": "6", "chr_pos": "121615311", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N62", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs3388864065", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388864065" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 705, "end_pos": 705, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKI->NKT).", "chr_id": "6", "chr_pos": "121636246", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I705", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs3388858124", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388858124" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 993, "end_pos": 993, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NET->NER).", "chr_id": "6", "chr_pos": "121645128", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T993", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6GQT1", "url": "https://www.uniprot.org/uniprot/Q6GQT1" } ], "common_name": "Mouse" } ], "gene": [ { "name": "A2m", "url": "https://www.uniprot.org/uniprot/Q6GQT1", "locus": { "chromosome": "6", "start_pos": 121656186, "end_pos": 121612335, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000030111", "url": "https://www.ensembl.org/id/ENSMUSG00000030111" } ] } } ], "crossref": [ { "id": "ENSMUSG00000030111", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000030111", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd02897", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd02897", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "232345", "url": "https://www.ncbi.nlm.nih.gov/gene/232345", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "GPDB0001341", "url": "https://acgg.asia/db/gpdb/symbol/GPDB0001341", "database": "GlycoProtDB", "categories": [ "Glycoproteomics" ] }, { "id": "GPDB0005723", "url": "https://acgg.asia/db/gpdb/symbol/GPDB0005723", "database": "GlycoProtDB", "categories": [ "Glycoproteomics" ] }, { "id": "Q6GQT1", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q6GQT1*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001599", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001599", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002890", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002890", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008930", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008930", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR009048", "url": "https://www.ebi.ac.uk/interpro/entry/IPR009048", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011625", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011625", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011626", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011626", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013783", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR014756", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014756", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR019742", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019742", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036595", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036595", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR040839", "url": "https://www.ebi.ac.uk/interpro/entry/IPR040839", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR041555", "url": "https://www.ebi.ac.uk/interpro/entry/IPR041555", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR041813", "url": "https://www.ebi.ac.uk/interpro/entry/IPR041813", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR047565", "url": "https://www.ebi.ac.uk/interpro/entry/IPR047565", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "mmu:232345", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:232345", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "2449119", "url": "http://www.informatics.jax.org/marker/MGI:2449119", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "Q6GQT1", "url": "https://oglcnac.org/atlas/detail/Q6GQT1", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q6GQT1", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6GQT1", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "HVNRTEV", "url": "https://omabrowser.org/oma/group/HVNRTEV/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2970602at2759", "url": "http://www.orthodb.org/?query=2970602at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11412", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11412", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11412:SF165", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11412:SF165", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00207", "url": "http://pfam.xfam.org/family/PF00207", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01835", "url": "http://pfam.xfam.org/family/PF01835", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07677", "url": "http://pfam.xfam.org/family/PF07677", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07678", "url": "http://pfam.xfam.org/family/PF07678", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07703", "url": "http://pfam.xfam.org/family/PF07703", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF17789", "url": "http://pfam.xfam.org/family/PF17789", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF17791", "url": "http://pfam.xfam.org/family/PF17791", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q6GQT1", "url": "http://purl.obolibrary.org/obo/PR_Q6GQT1", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-MMU-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-114608", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-MMU-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-140837", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-MMU-1474228", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-1474228", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-MMU-8963896", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-8963896", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_783327", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_783327", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0N4SUX6", "url": "https://www.uniprot.org/uniprot/A0A0N4SUX6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0N4SUX6-1", "url": "https://www.uniprot.org/uniprot/A0A0N4SUX6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q6GQT1", "url": "https://www.uniprot.org/uniprot/Q6GQT1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q6GQT1-1", "url": "https://www.uniprot.org/uniprot/Q6GQT1-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGKRWLPSLALLPLPPPLLLLLLLLLPTNASAPQKPIYMVMVPSLLHAGTPEKGCLLFNHLNETVTVKVSMESVRGNQSLFTDLVVDKDLFHCASFIVPQSSSNEVMFLTVQVKGPTHEFRRRSTVLIKTKESLVFAQTDKPIYKPGQMVRFRVVSLDENFHPLNELIPLLYIQDSKKNRIAQWQNFRLEGGLKQLSFPLSSEPTQGSYKVVIRTESGRTVEHPFSVKEFVLPKFEVKVAVPETITILEEEMNVSVCGIYTYGKPVPGHVTVNICRKYSNPSSCFGEESLAFCEKFSQQLDGRGCFSQLVKTKSFQLKRQEYEMQLDVNAKIQEEGTGVEETGKGLTKITRTITKLSFVNVDTHFRQGIPFVGQVLLVDGRGTPIPYEMIFIGADEANQNINTTTDKNGLARFSINTDDIMGTSLTVRAKYKDSNVCYGFRWLTEENVEAWHTANAVFSPSRSFVHLESLPYKLRCEQTLAVQAHYILNDEAVLERKELVFYYLMMAKGGIVRAGTHVLPVTQGHKKGHFSILISMETDLAPVARLVLYTILPNGEVVGDTVKYEIEKCLANKVDLVFHPNIGLPATRAFLSVMASPQSLCGLRAVDQSVLLTKPEAELSASLVYDLLPVKDLTGFPKGVNQQEEDTNGCLKQNDTYINGILYSPVQNTNEEDMYGFLKDMGLKVFTNLNIRKPKVCERLGVNKIPAAYHLVSQGHMDAFLESSESPTETTRSYFPETWIWDLVIVDSTGVAEMEVTVPDTITEWKAGAFCLSNDTGLGLSPVIDFQAFQPFFVDLTMPYSVIRGEAFTLKATVLNYLQTCIRVGVQLEASPDFLATPEEKEQKSHCICMNERHTMSWAVIPKSLGNVNFTVSAEALDSKELCRNEVPVVPERGKKDTIIKSLLVEPEGLENEVTFNSLLCPTGAEVSEQISLKLPSDVVEESARASVTVLGDILGSAMQNTQDLLKMPYGCGEQNMVLFAPNIYVLDYLNETEQLTQEIKTKAITYLNTGYQRQLNYKHRDGSYSTFGDKPGRSHANTWLTAFVLKSFAQARRYIFIDESHITQALTWLSQQQKDNGCFRSSGSLLNNAMKGGVEDEVTLSAYITIALLEMSLPVTHPVVRNALFCLDTAWKSARRGASGNHVYTKALLAYAFALAGNQDTKKEILKSLDEEAVKEDNSVHWTRAQKPRVPADLWYQPQAPSAEVEMTAYVLLAYLTTELVPTREDLTAAMLIVKWLTKQQNSHGGFSSTQDTVVALHALSKYGAATFTRAKKAAHVTIQSSGAFYTKFQVNNDNQLLLQRVTLPTVPGDYTAKVAGEGCVYLQTSLKYSVLPREKEFPFALVVQTLPGTCEDLKAHTTFQISLNISYIGSRSDSNMAIADVKMVSGFIPLKPTVKMLERSVHVSRTEVSNNHVLIYLDKVSNQMLTLFFMVQQDIPVRDLKPAIVKVYDYYEKDEFAVAKYSAPCSAGYGNA", "length": 1474, "header": "sp|Q6GQT1-1|A2MG_MOUSE Isoform 1 of Alpha-2-macroglobulin-P OS=Mus musculus OX=10090 GN=A2m PE=2 SV=2 CANONICAL=Q6GQT1-1" }, "isoforms": [ { "isoform_ac": "A0A0N4SUX6-1", "url": "", "sequence": { "sequence": "MVMVPSLLHAGTPEKGCLLFNHLNETVTVKVSMES", "length": 35, "header": "tr|A0A0N4SUX6-1|A2MG_MOUSE Computationally mapped isoform of Alpha-2-macroglobulin-P OS=Mus musculus OX=10090 GN=A2m PE=2 SV=1 CANONICAL=Q6GQT1-1" }, "locus": { "chromosome": "6", "start_pos": 121615346, "end_pos": 121615242, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000204850.2", "url": "https://www.ensembl.org/id/ENSMUST00000204850.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000144862.2", "url": "https://www.ensembl.org/id/ENSMUSP00000144862.2" } ] } }, { "isoform_ac": "Q6GQT1-1", "url": "", "sequence": { "sequence": "MGKRWLPSLALLPLPPPLLLLLLLLLPTNASAPQKPIYMVMVPSLLHAGTPEKGCLLFNHLNETVTVKVSMESVRGNQSLFTDLVVDKDLFHCASFIVPQSSSNEVMFLTVQVKGPTHEFRRRSTVLIKTKESLVFAQTDKPIYKPGQMVRFRVVSLDENFHPLNELIPLLYIQDSKKNRIAQWQNFRLEGGLKQLSFPLSSEPTQGSYKVVIRTESGRTVEHPFSVKEFVLPKFEVKVAVPETITILEEEMNVSVCGIYTYGKPVPGHVTVNICRKYSNPSSCFGEESLAFCEKFSQQLDGRGCFSQLVKTKSFQLKRQEYEMQLDVNAKIQEEGTGVEETGKGLTKITRTITKLSFVNVDTHFRQGIPFVGQVLLVDGRGTPIPYEMIFIGADEANQNINTTTDKNGLARFSINTDDIMGTSLTVRAKYKDSNVCYGFRWLTEENVEAWHTANAVFSPSRSFVHLESLPYKLRCEQTLAVQAHYILNDEAVLERKELVFYYLMMAKGGIVRAGTHVLPVTQGHKKGHFSILISMETDLAPVARLVLYTILPNGEVVGDTVKYEIEKCLANKVDLVFHPNIGLPATRAFLSVMASPQSLCGLRAVDQSVLLTKPEAELSASLVYDLLPVKDLTGFPKGVNQQEEDTNGCLKQNDTYINGILYSPVQNTNEEDMYGFLKDMGLKVFTNLNIRKPKVCERLGVNKIPAAYHLVSQGHMDAFLESSESPTETTRSYFPETWIWDLVIVDSTGVAEMEVTVPDTITEWKAGAFCLSNDTGLGLSPVIDFQAFQPFFVDLTMPYSVIRGEAFTLKATVLNYLQTCIRVGVQLEASPDFLATPEEKEQKSHCICMNERHTMSWAVIPKSLGNVNFTVSAEALDSKELCRNEVPVVPERGKKDTIIKSLLVEPEGLENEVTFNSLLCPTGAEVSEQISLKLPSDVVEESARASVTVLGDILGSAMQNTQDLLKMPYGCGEQNMVLFAPNIYVLDYLNETEQLTQEIKTKAITYLNTGYQRQLNYKHRDGSYSTFGDKPGRSHANTWLTAFVLKSFAQARRYIFIDESHITQALTWLSQQQKDNGCFRSSGSLLNNAMKGGVEDEVTLSAYITIALLEMSLPVTHPVVRNALFCLDTAWKSARRGASGNHVYTKALLAYAFALAGNQDTKKEILKSLDEEAVKEDNSVHWTRAQKPRVPADLWYQPQAPSAEVEMTAYVLLAYLTTELVPTREDLTAAMLIVKWLTKQQNSHGGFSSTQDTVVALHALSKYGAATFTRAKKAAHVTIQSSGAFYTKFQVNNDNQLLLQRVTLPTVPGDYTAKVAGEGCVYLQTSLKYSVLPREKEFPFALVVQTLPGTCEDLKAHTTFQISLNISYIGSRSDSNMAIADVKMVSGFIPLKPTVKMLERSVHVSRTEVSNNHVLIYLDKVSNQMLTLFFMVQQDIPVRDLKPAIVKVYDYYEKDEFAVAKYSAPCSAGYGNA", "length": 1474, "header": "sp|Q6GQT1-1|A2MG_MOUSE Isoform 1 of Alpha-2-macroglobulin-P OS=Mus musculus OX=10090 GN=A2m PE=2 SV=2 CANONICAL=Q6GQT1-1" }, "locus": { "chromosome": "6", "start_pos": 121656064, "end_pos": 121613248, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000032203", "url": "https://www.ensembl.org/id/ENSMUST00000032203" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000032203", "url": "https://www.ensembl.org/id/ENSMUSP00000032203" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1026, "start_aa": "Ser", "end_pos": 1026, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1026", "evidence": [ { "id": "Q6GQT1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6GQT1" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1027, "start_aa": "Thr", "end_pos": 1027, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1027", "evidence": [ { "id": "Q6GQT1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6GQT1" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1366, "start_aa": "Asn", "end_pos": 1366, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1366", "evidence": [ { "id": "Q6GQT1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6GQT1#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 253, "start_aa": "Asn", "end_pos": 253, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn253", "evidence": [ { "id": "Q6GQT1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6GQT1#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 402, "start_aa": "Asn", "end_pos": 402, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn402", "evidence": [ { "id": "Q6GQT1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6GQT1#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 599, "start_aa": "Ser", "end_pos": 599, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser599", "evidence": [ { "id": "Q6GQT1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6GQT1" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 62, "start_aa": "Asn", "end_pos": 62, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn62", "evidence": [ { "id": "Q6GQT1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6GQT1#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 654, "start_aa": "Asn", "end_pos": 654, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn654", "evidence": [ { "id": "Q6GQT1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6GQT1#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 774, "start_aa": "Asn", "end_pos": 774, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn774", "evidence": [ { "id": "Q6GQT1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6GQT1#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 77, "start_aa": "Asn", "end_pos": 77, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn77", "evidence": [ { "id": "Q6GQT1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6GQT1#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 869, "start_aa": "Asn", "end_pos": 869, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn869", "evidence": [ { "id": "Q6GQT1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6GQT1#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 991, "start_aa": "Asn", "end_pos": 991, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn991", "evidence": [ { "id": "Q6GQT1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6GQT1#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Characterization of a murine alpha 2 macroglobulin gene expressed in reproductive and cardiovascular tissue.", "journal": "Biol. Reprod.", "date": "2005", "authors": "Zhang J., Wei Q., He H., Van Leuven F., Foster R.A., Croy B.A., Esadeg S., Hayes M.A., McCartney D.J., Tayade C.", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT1", "url": "https://www.uniprot.org/uniprot/Q6GQT1" } ], "reference": [ { "type": "PubMed", "id": "15355875", "url": "https://glygen.org/publication/PubMed/15355875" } ] }, { "title": "O-GlcNAcylation Quantification of Certain Protein by the Proximity Ligation Assay and Clostridium perfringen OGA(D298N)(CpOGA(D298N)).", "journal": "ACS chemical biology", "date": "2021", "authors": "Song J, Liu C, Wang X, Xu B, Liu X, Li Y, Xia J, Li Y, Zhang C, Li D, Sun H", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6GQT1", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6GQT1" }, { "database": "O-GlcNAc Atlas", "id": "Q6GQT1", "url": "https://oglcnac.org/atlas/detail/Q6GQT1" } ], "reference": [ { "type": "PubMed", "id": "34105348", "url": "https://glygen.org/publication/PubMed/34105348" } ] }, { "title": "O-GlcNAcylation Is Essential for Rapid Pomc Expression and Cell Proliferation in Corticotropic Tumor Cells.", "journal": "Endocrinology", "date": "2021", "authors": "Massman LJ, Pereckas M, Zwagerman NT, Olivier-Van Stichelen S", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6GQT1", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6GQT1" } ], "reference": [ { "type": "PubMed", "id": "34418053", "url": "https://glygen.org/publication/PubMed/34418053" } ] } ], "pathway": [ { "id": "mmu:232345", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:232345", "resource": "KEGG Pathway" }, { "id": "R-MMU-114608", "name": "Platelet degranulation", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-114608", "resource": "Reactome", "description": "Platelet degranulation" }, { "id": "R-MMU-140837", "name": "Intrinsic Pathway of Fibrin Clot Formation", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-140837", "resource": "Reactome", "description": "Intrinsic Pathway of Fibrin Clot Formation" }, { "id": "R-MMU-1474228", "name": "Degradation of the extracellular matrix", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-1474228", "resource": "Reactome", "description": "Degradation of the extracellular matrix" }, { "id": "R-MMU-8963896", "name": "HDL assembly", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-8963896", "resource": "Reactome", "description": "HDL assembly" } ], "orthologs": [ { "uniprot_canonical_ac": "P01023-1", "protein_name": "Alpha-2-macroglobulin", "gene_name": "A2M", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MGKNKLLHPSLVLLLLVLLPTDASVSGKPQYMVLVPSLLHTETTEKGCVLLSYLNETVTVSASLESVRGNRSLFTDLEAENDVLHCVAFAVPKSSSNEEVMFLTVQVKGPTQEFKKRTTVMVKNEDSLVFVQTDKSIYKPGQTVKFRVVSMDENFHPLNELIPLVYIQDPKGNRIAQWQSFQLEGGLKQFSFPLSSEPFQGSYKVVVQKKSGGRTEHPFTVEEFVLPKFEVQVTVPKIITILEEEMNVSVCGLYTYGKPVPGHVTVSICRKYSDASDCHGEDSQAFCEKFSGQLNSHGCFYQQVKTKVFQLKRKEYEMKLHTEAQIQEEGTVVELTGRQSSEITRTITKLSFVKVDSHFRQGIPFFGQVRLVDGKGVPIPNKVIFIRGNEANYYSNATTDEHGLVQFSINTTNVMGTSLTVRVNYKDRSPCYGYQWVSEEHEEAHHTAYLVFSPSKSFVHLEPMSHELPCGHTQTVQAHYILNGGTLLGLKKLSFYYLIMAKGGIVRTGTHGLLVKQEDMKGHFSISIPVKSDIAPVARLLIYAVLPTGDVIGDSAKYDVENCLANKVDLSFSPSQSLPASHAHLRVTAAPQSVCALRAVDQSVLLMKPDAELSASSVYNLLPEKDLTGFPGPLNDQDNEDCINRHNVYINGITYTPVSSTNEKDMYSFLEDMGLKAFTNSKIRKPKMCPQLQQYEMHGPEGLRVGFYESDVMGRGHARLVHVEEPHTETVRKYFPETWIWDLVVVNSAGVAEVGVTVPDTITEWKAGAFCLSEDAGLGISSTASLRAFQPFFVELTMPYSVIRGEAFTLKATVLNYLPKCIRVSVQLEASPAFLAVPVEKEQAPHCICANGRQTVSWAVTPKSLGNVNFTVSAEALESQELCGTEVPSVPEHGRKDTVIKPLLVEPEGLEKETTFNSLLCPSGGEVSEELSLKLPPNVVEESARASVSVLGDILGSAMQNTQNLLQMPYGCGEQNMVLFAPNIYVLDYLNETQQLTPEIKSKAIGYLNTGYQRQLNYKHYDGSYSTFGERYGRNQGNTWLTAFVLKTFAQARAYIFIDEAHITQALIWLSQRQKDNGCFRSSGSLLNNAIKGGVEDEVTLSAYITIALLEIPLTVTHPVVRNALFCLESAWKTAQEGDHGSHVYTKALLAYAFALAGNQDKRKEVLKSLNEEAVKKDNSVHWERPQKPKAPVGHFYEPQAPSAEVEMTSYVLLAYLTAQPAPTSEDLTSATNIVKWITKQQNAQGGFSSTQDTVVALHALSKYGAATFTRTGKAAQVTIQSSGTFSSKFQVDNNNRLLLQQVSLPELPGEYSMKVTGEGCVYLQTSLKYNILPEKEEFPFALGVQTLPQTCDEPKAHTSFQISLSVSYTGSRSASNMAIVDVKMVSGFIPLKPTVKMLERSNHVSRTEVSSNHVLIYLDKVSNQTLSLFFTVLQDVPVRDLKPAIVKVYDYYETDEFAIAEYNAPCSKDLGNA", "length": 1474 }, "evidence": [ { "id": "45229847", "url": "http://www.informatics.jax.org/homology/45229847", "database": "MGI" }, { "id": "Q6GQT1", "url": "https://omabrowser.org/oma/group/Q6GQT1/", "database": "OMA" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "P06238-1", "protein_name": "Alpha-2-macroglobulin", "gene_name": "A2m", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGKHRLRSLALLPLLLRLLLLLLPTDASAPQKPIYMVMVPSLLHAGTPEKACFLFSHLNETVAVRVSLESVRGNQSLFTDLVVDKDLFHCTSFTVPQSSSDEVMFFTVQVKGATHEFRRRSTVLVKKKESLVFAQTDKPIYKPGQTVRFRVVSLDESFHPLNELIPLLYIQDPKNNRIAQWQNFNLEGGLKQLSFPLSSEPTQGSYKVVIRTESGRTVEHPFSVEEFVLPKFEVRVTVPETITILEEEMNVSVCGIYTYGKPVPGRVTVNICRKYSNPSNCFGEESVAFCEKLSQQLDGRGCFSQLVKTKSFQLKRQEYEMQLDVHAKIQEEGTGVEETGKGLTKITRTITKLSFVNVDSHFRQGIPFVGQVLLVDGRGTPIPYETIFIGADEANLYINTTTDKHGLARFSINTDDIMGTSLTVRAKYKDSNACYGFRWLTEENVEAWHTAYAVFSPSRSFLHLESLPDKLRCDQTLEVQAHYILNGEAMQELKELVFYYLMMAKGGIVRAGTHVLPLKQGQMRGHFSILISMETDLAPVARLVLYAILPNGEVVGDTAKYEIENCLANKVDLVFRPNSGLPATRALLSVMASPQSLCGLRAVDQSVLLMKPETELSASLIYDLLPVKDLTGFPQGADQREEDTNGCVKQNDTYINGILYSPVQNTNEEDMYGFLKDMGLKVFTNSNIRKPKVCERLRDNKGIPAAYHLVSQSHMDAFLESSESPTETRRSYFPETWIWDLVVVDSAGVAEVEVTVPDTITEWKAGAFCLSNDTGLGLSPVVQFQAFQPFFVELTMPYSVIRGEAFTLKATVLNYLPTCIRVAVQLEASPDFLAAPEEKEQRSHCICMNQRHTASWAVIPKSLGNVNFTVSAEALNSKELCGNEVPVVPEQGKKDTIIKSLLVEPEGLENEVTFNSLLCPMGAEVSELIALKLPSDVVEESARASVTVLGDILGSAMQNTQDLLKMPYGCGEQNMVLFAPNIYVLDYLNETQQLTQEIKTKAIAYLNTGYQRQLNYKHRDGSYSTFGDKPGRNHANTWLTAFVLKSFAQARKYIFIDEVHITQALLWLSQQQKDNGCFRSSGSLLNNAMKGGVEDEVTLSAYITIALLEMSLPVTHPVVRNALFCLDTAWKSARGGAGGSHVYTKALLAYAFALAGNQDTKKEILKSLDEEAVKEEDSVHWTRPQKPSVSVALWYQPQAPSAEVEMTAYVLLAYLTTEPAPTQEDLTAAMLIVKWLTKQQNSHGGFSSTQDTVVALHALSKYGSATFTRAKKAAQVTIHSSGTFSTKFQVNNNNQLLLQRVTLPTVPGDYTVKVTGEGCVYLQTSLKYSVLPREEEFPFTVVVQTLPGTCEDPKAHTSFQISLNISYTGSRSESNMAIADVKMVSGFIPLKPTVKMLERSVHVSRTEVSNNHVLIYLDKVSNQTVNLSFTVQQDIPIRDLKPAVVKVYDYYEKDEFAVAKYSAPCSTDYGNA", "length": 1472 }, "evidence": [ { "id": "45229847", "url": "http://www.informatics.jax.org/homology/45229847", "database": "MGI" }, { "id": "Q6GQT1", "url": "https://omabrowser.org/oma/group/Q6GQT1/", "database": "OMA" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 14, "go_terms": [ { "name": "nerve growth factor binding", "id": "GO:0048406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048406", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT1", "url": "https://www.uniprot.org/uniprot/Q6GQT1" } ], "pmid": "" }, { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT1", "url": "https://www.uniprot.org/uniprot/Q6GQT1" } ], "pmid": "" }, { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT1", "url": "https://www.uniprot.org/uniprot/Q6GQT1" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT1", "url": "https://www.uniprot.org/uniprot/Q6GQT1" } ], "pmid": "" }, { "name": "growth factor binding", "id": "GO:0019838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019838", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT1", "url": "https://www.uniprot.org/uniprot/Q6GQT1" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT1", "url": "https://www.uniprot.org/uniprot/Q6GQT1" } ], "pmid": "" }, { "name": "interleukin-8 binding", "id": "GO:0019959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019959", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT1", "url": "https://www.uniprot.org/uniprot/Q6GQT1" } ], "pmid": "" }, { "name": "interleukin-1 binding", "id": "GO:0019966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019966", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT1", "url": "https://www.uniprot.org/uniprot/Q6GQT1" } ], "pmid": "" }, { "name": "peptidase inhibitor activity", "id": "GO:0030414", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030414", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT1", "url": "https://www.uniprot.org/uniprot/Q6GQT1" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT1", "url": "https://www.uniprot.org/uniprot/Q6GQT1" } ], "pmid": "" }, { "name": "tumor necrosis factor binding", "id": "GO:0043120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043120", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT1", "url": "https://www.uniprot.org/uniprot/Q6GQT1" } ], "pmid": "" }, { "name": "calcium-dependent protein binding", "id": "GO:0048306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048306", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT1", "url": "https://www.uniprot.org/uniprot/Q6GQT1" } ], "pmid": "" }, { "name": "endopeptidase inhibitor activity", "id": "GO:0004866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004866", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT1", "url": "https://www.uniprot.org/uniprot/Q6GQT1" } ], "pmid": "" }, { "name": "brain-derived neurotrophic factor binding", "id": "GO:0048403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048403", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT1", "url": "https://www.uniprot.org/uniprot/Q6GQT1" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 12, "go_terms": [ { "name": "embryonic liver development", "id": "GO:1990402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990402", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT1", "url": "https://www.uniprot.org/uniprot/Q6GQT1" } ], "pmid": "" }, { "name": "negative regulation of complement activation, lectin pathway", "id": "GO:0001869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001869", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT1", "url": "https://www.uniprot.org/uniprot/Q6GQT1" } ], "pmid": "" }, { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT1", "url": "https://www.uniprot.org/uniprot/Q6GQT1" } ], "pmid": "" }, { "name": "stem cell differentiation", "id": "GO:0048863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048863", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT1", "url": "https://www.uniprot.org/uniprot/Q6GQT1" } ], "pmid": "" }, { "name": "acute-phase response", "id": "GO:0006953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006953", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT1", "url": "https://www.uniprot.org/uniprot/Q6GQT1" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT1", "url": "https://www.uniprot.org/uniprot/Q6GQT1" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT1", "url": "https://www.uniprot.org/uniprot/Q6GQT1" } ], "pmid": "" }, { "name": "negative regulation of endopeptidase activity", "id": "GO:0010951", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010951", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT1", "url": "https://www.uniprot.org/uniprot/Q6GQT1" } ], "pmid": "" }, { "name": "acute inflammatory response to antigenic stimulus", "id": "GO:0002438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002438", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT1", "url": "https://www.uniprot.org/uniprot/Q6GQT1" } ], "pmid": "" }, { "name": "luteinization", "id": "GO:0001553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001553", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT1", "url": "https://www.uniprot.org/uniprot/Q6GQT1" } ], "pmid": "" }, { "name": "response to prostaglandin E", "id": "GO:0034695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034695", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT1", "url": "https://www.uniprot.org/uniprot/Q6GQT1" } ], "pmid": "" }, { "name": "response to carbon dioxide", "id": "GO:0010037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010037", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT1", "url": "https://www.uniprot.org/uniprot/Q6GQT1" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q6GQT1", "url": "https://www.uniprot.org/uniprot/Q6GQT1" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1366, "end_pos": 1368, "annotation": "n_glycosylation_sequon" }, { "start_pos": 253, "end_pos": 255, "annotation": "n_glycosylation_sequon" }, { "start_pos": 29, "end_pos": 31, "annotation": "n_glycosylation_sequon" }, { "start_pos": 402, "end_pos": 404, "annotation": "n_glycosylation_sequon" }, { "start_pos": 62, "end_pos": 64, "annotation": "n_glycosylation_sequon" }, { "start_pos": 654, "end_pos": 656, "annotation": "n_glycosylation_sequon" }, { "start_pos": 774, "end_pos": 776, "annotation": "n_glycosylation_sequon" }, { "start_pos": 77, "end_pos": 79, "annotation": "n_glycosylation_sequon" }, { "start_pos": 869, "end_pos": 871, "annotation": "n_glycosylation_sequon" }, { "start_pos": 991, "end_pos": 993, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 12 }, { "field": "total_sites", "count": 12 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 9 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "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": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 9 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 9 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "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": 7 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }