{ "uniprot_canonical_ac": "P10820-1", "uniprot_ac": "P10820", "uniprot_id": "PERF_MOUSE", "mass": { "chemical_mass": 62081.0, "monoisotopic_mass": 62081.0 }, "refseq": { "ac": "NP_035203", "name": "perforin-1 precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_035203" }, "gene_names": [ { "name": "Prf1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P10820", "id": "P10820" }, { "name": "Pfn; Pfp; Prf-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_035203", "id": "NP_035203" }, { "name": "Pfp", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10820", "id": "P10820" }, { "name": "Prf1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_035203", "id": "NP_035203" } ], "protein_names": [ { "name": "Perforin-1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P10820" }, { "name": "Cytolysin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10820" }, { "name": "Lymphocyte pore-forming protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10820" }, { "name": "P1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10820" }, { "name": "perforin-1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_035203", "id": "NP_035203" }, { "name": "perforin-1; P1; cytolysin; lymphocyte pore-forming protein; pore forming protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_035203", "id": "NP_035203" } ], "function": [ { "annotation": "Pore-forming protein that plays a key role in granzyme-mediated programmed cell death, and in defense against virus-infected or neoplastic cells (PubMed:19446473, PubMed:21037563, PubMed:3261391, PubMed:7526382, PubMed:8164737, PubMed:26306037, PubMed:35148176, PubMed:35705808). Can insert into the membrane of target cells in its calcium-bound form, oligomerize and form large pores (PubMed:19446473, PubMed:21037563, PubMed:3261391, PubMed:7526382, PubMed:8164737, PubMed:26306037, PubMed:35148176, PubMed:35705808). Promotes cytolysis and apoptosis of target cells by facilitating the uptake of cytotoxic granzymes (PubMed:19446473, PubMed:21037563, PubMed:3261391, PubMed:7526382, PubMed:8164737, PubMed:26306037, PubMed:35148176). Perforin pores allow the release of mature caspase-7 (CASP7) into the extracellular milieu (PubMed:35705808).", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820#function" }, { "database": "PubMed", "id": "21037563", "url": "https://glygen.org/publication/PubMed/21037563" }, { "database": "PubMed", "id": "19446473", "url": "https://glygen.org/publication/PubMed/19446473" }, { "database": "PubMed", "id": "3261391", "url": "https://glygen.org/publication/PubMed/3261391" }, { "database": "PubMed", "id": "7526382", "url": "https://glygen.org/publication/PubMed/7526382" }, { "database": "PubMed", "id": "8164737", "url": "https://glygen.org/publication/PubMed/8164737" }, { "database": "PubMed", "id": "35705808", "url": "https://glygen.org/publication/PubMed/35705808" }, { "database": "PubMed", "id": "35148176", "url": "https://glygen.org/publication/PubMed/35148176" }, { "database": "PubMed", "id": "26306037", "url": "https://glygen.org/publication/PubMed/26306037" } ] } ], "disease": [ { "disease_id": "DOID:0060060", "recommended_name": { "id": "DOID:0060060", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060060", "name": "non-Hodgkin lymphoma", "description": "A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma." }, "synonyms": [ { "id": "MONDO:0011508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011508", "name": "lymphoma, non-Hodgkin, familial", "description": "" }, { "id": "MONDO:0011508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011508", "name": "lymphoma, follicular, somatic", "description": "" }, { "id": "MONDO:0011508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011508", "name": "lymphoma, non-Hodgkin", "description": "" }, { "id": "MONDO:0011508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011508", "name": "lymphoma, non-Hodgkin, familial", "description": "" }, { "id": "MONDO:0011508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011508", "name": "lymphoma, non-Hodgkin, somatic", "description": "" }, { "id": "MONDO:0011508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011508", "name": "non-Hodgkin lymphoma", "description": "" }, { "id": "MIM:605027", "resource": "MIM", "url": "https://www.omim.org/entry/605027", "name": "Familial non-Hodgkin lymphoma", "description": "Familial non-Hodgkin lymphoma" } ], "evidence": [ { "id": "0060060", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060060" } ] }, { "disease_id": "DOID:0110922", "recommended_name": { "id": "DOID:0110922", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110922", "name": "familial hemophagocytic lymphohistiocytosis 2", "description": "A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the PRF1 gene on chromosome 10q22.1." }, "synonyms": [ { "id": "DOID:0110922", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110922", "name": "FHL2", "description": "" }, { "id": "DOID:0110922", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110922", "name": "HLH2", "description": "" }, { "id": "DOID:0110922", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110922", "name": "HPLH2", "description": "" }, { "id": "MONDO:0011337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011337", "name": "familial hemophagocytic lymphohistiocytosis 2", "description": "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene." }, { "id": "MONDO:0011337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011337", "name": "FHL2", "description": "" }, { "id": "MONDO:0011337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011337", "name": "HLH2", "description": "" }, { "id": "MONDO:0011337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011337", "name": "HPLH2", "description": "" }, { "id": "MONDO:0011337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011337", "name": "PRF1 genetic hemophagocytic lymphohistiocytosis", "description": "" }, { "id": "MONDO:0011337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011337", "name": "familial hemophagocytic lymphohistiocytosis type 2", "description": "" }, { "id": "MONDO:0011337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011337", "name": "genetic hemophagocytic lymphohistiocytosis caused by mutation in PRF1", "description": "" }, { "id": "MONDO:0011337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011337", "name": "hemophagocytic lymphohistiocytosis, familial, type 2", "description": "" }, { "id": "MONDO:0011337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011337", "name": "Hlh2", "description": "" }, { "id": "MONDO:0011337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011337", "name": "Hplh2", "description": "" }, { "id": "MONDO:0011337", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011337", "name": "hemophagocytic lymphohistiocytosis, familial, 2", "description": "" }, { "id": "MIM:603553", "resource": "MIM", "url": "https://www.omim.org/entry/603553", "name": "Hemophagocytic lymphohistiocytosis, familial, 2", "description": "Hemophagocytic lymphohistiocytosis, familial, 2" } ], "evidence": [ { "id": "0110922", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110922" } ] }, { "disease_id": "DOID:12449", "recommended_name": { "id": "DOID:12449", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12449", "name": "aplastic anemia", "description": "An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow." }, "synonyms": [ { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "idiopathic aplastic anemia", "description": "Aplastic anemia without a known cause." }, { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "idiopathic aplastic aplasia", "description": "" }, { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "idiopathic bone marrow failure", "description": "" }, { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "anaemia aplastic", "description": "" }, { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "anemia aplastic", "description": "" }, { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "aplastic Anemia, susceptibility to", "description": "" }, { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "aplastic anaemia", "description": "" }, { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "aplastic anaemia idiopathic", "description": "" }, { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "aplastic anemia", "description": "" }, { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "aplastic anemia idiopathic", "description": "" }, { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "secondary aplastic anaemia", "description": "" }, { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "secondary aplastic anemia", "description": "" }, { "id": "MIM:609135", "resource": "MIM", "url": "https://www.omim.org/entry/609135", "name": "Aplastic anemia", "description": "Aplastic anemia" } ], "evidence": [ { "id": "12449", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12449" } ] }, { "disease_id": "DOID:13636", "recommended_name": { "id": "DOID:13636", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13636", "name": "Fanconi anemia", "description": "A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair." }, "synonyms": [ { "id": "DOID:13636", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13636", "name": "Fanconi anaemia", "description": "" }, { "id": "DOID:13636", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13636", "name": "Fanconi pancytopenia", "description": "" }, { "id": "DOID:13636", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13636", "name": "Fanconi panmyelopathy", "description": "" }, { "id": "DOID:13636", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13636", "name": "Fanconi's anaemia", "description": "" }, { "id": "DOID:13636", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13636", "name": "Fanconi's anemia", "description": "" }, { "id": "MONDO:0009215", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009215", "name": "Fanconi anemia complementation group A", "description": "Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway." }, { "id": "MONDO:0009215", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009215", "name": "FANCA", "description": "" }, { "id": "MONDO:0009215", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009215", "name": "FANCA Fanconi anaemia", "description": "" }, { "id": "MONDO:0009215", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009215", "name": "FANCA Fanconi anemia", "description": "" }, { "id": "MONDO:0009215", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009215", "name": "Fanconi Anemia, complementation group type a", "description": "" }, { "id": "MONDO:0009215", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009215", "name": "Fanconi anaemia caused by mutation in FANCA", "description": "" }, { "id": "MONDO:0009215", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009215", "name": "Fanconi anaemia complementation group type A", "description": "" }, { "id": "MONDO:0009215", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009215", "name": "Fanconi anemia caused by mutation in FANCA", "description": "" }, { "id": "MONDO:0009215", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009215", "name": "Fanconi anemia complementation group A", "description": "" }, { "id": "MONDO:0009215", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009215", "name": "Fanconi anemia complementation group type A", "description": "" }, { "id": "MONDO:0009215", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009215", "name": "Estren-Dameshek variant of Fanconi Anaemia", "description": "" }, { "id": "MONDO:0009215", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009215", "name": "Estren-Dameshek variant of Fanconi Anemia", "description": "" }, { "id": "MONDO:0009215", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009215", "name": "Estren-Dameshek variant of Fanconi pancytopenia", "description": "" }, { "id": "MONDO:0009215", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009215", "name": "Fanconi Anaemia", "description": "" }, { "id": "MONDO:0009215", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009215", "name": "Fanconi Anemia", "description": "" }, { "id": "MONDO:0009215", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009215", "name": "Fanconi Anemia, Estren-Dameshek variant", "description": "" }, { "id": "MONDO:0009215", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009215", "name": "Fanconi anemia, complementation group A", "description": "" }, { "id": "MIM:227650", "resource": "MIM", "url": "https://www.omim.org/entry/227650", "name": "Fanconi anemia, complementation group A", "description": "Fanconi anemia, complementation group A" } ], "evidence": [ { "id": "13636", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13636" } ] }, { "disease_id": "DOID:1520", "recommended_name": { "id": "DOID:1520", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1520", "name": "colon carcinoma", "description": "A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." }, "synonyms": [ { "id": "DOID:1520", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1520", "name": "Colonic carcinoma", "description": "" }, { "id": "DOID:1520", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1520", "name": "carcinoma of colon", "description": "" } ], "evidence": [ { "id": "1520", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1520" } ] }, { "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:2841", "recommended_name": { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing." }, "synonyms": [ { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "Exercise induced asthma", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "bronchial hyperreactivity", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma with acute exacerbation", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma with status asthmaticus", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "exercise-induced asthma", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "inherited susceptibility to asthma", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, nocturnal, susceptibility to", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, bronchial", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, diminished response to Antileukotriene treatment 1N", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, protection against", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, susceptibility to", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma-related traits, susceptibility to", "description": "" }, { "id": "MIM:600807", "resource": "MIM", "url": "https://www.omim.org/entry/600807", "name": "Asthma", "description": "Asthma" } ], "evidence": [ { "id": "2841", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ] }, { "disease_id": "DOID:2920", "recommended_name": { "id": "DOID:2920", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2920", "name": "membranoproliferative glomerulonephritis", "description": "" }, "synonyms": [ { "id": "DOID:2920", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2920", "name": "Lobular glomerulonephritis", "description": "" }, { "id": "DOID:2920", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2920", "name": "chronic glomerulonephritis, lobular", "description": "" }, { "id": "MONDO:0010596", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010596", "name": "membranoproliferative glomerulonephritis, X-linked", "description": "" }, { "id": "MONDO:0010596", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010596", "name": "membranoproliferative glomerulonephritis, X-linked", "description": "" }, { "id": "MONDO:0010596", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010596", "name": "Mesangiocapillary glomerulonephritis, X-linked", "description": "" } ], "evidence": [ { "id": "2920", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2920" } ] }, { "disease_id": "DOID:2921", "recommended_name": { "id": "DOID:2921", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney." }, "synonyms": [], "evidence": [ { "id": "2921", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ] }, { "disease_id": "DOID:4330", "recommended_name": { "id": "DOID:4330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4330", "name": "non-Langerhans-cell histiocytosis", "description": "A histiocytosis that is characterized by the accumulation of histiocytes that do not meet the phenotypic criteria for the diagnosis of Langerhans cells." }, "synonyms": [], "evidence": [ { "id": "4330", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4330" } ] }, { "disease_id": "DOID:526", "recommended_name": { "id": "DOID:526", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands." }, "synonyms": [ { "id": "DOID:526", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:526", "name": "HIV infection", "description": "" } ], "evidence": [ { "id": "526", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:526" } ] }, { "disease_id": "DOID:8544", "recommended_name": { "id": "DOID:8544", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8544", "name": "chronic fatigue syndrome", "description": "A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions." }, "synonyms": [ { "id": "DOID:8544", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8544", "name": "CFS", "description": "" }, { "id": "DOID:8544", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8544", "name": "Myalgic encephalitis", "description": "" }, { "id": "DOID:8544", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8544", "name": "Myalgic encephalomyelitis", "description": "" }, { "id": "DOID:8544", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8544", "name": "Postviral fatigue syndrome", "description": "" } ], "evidence": [ { "id": "8544", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8544" } ] }, { "disease_id": "DOID:8778", "recommended_name": { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine." }, "synonyms": [ { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Crohn disease", "description": "" }, { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Crohn's disease of colon", "description": "" }, { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Crohn's disease of large bowel", "description": "" }, { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Granulomatous Colitis", "description": "" }, { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Pediatric Crohn's disease", "description": "" } ], "evidence": [ { "id": "8778", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ] }, { "disease_id": "DOID:9074", "recommended_name": { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart." }, "synonyms": [ { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "Lupus Erythematosus, systemic", "description": "" }, { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "SLE - Lupus Erythematosus, systemic", "description": "" }, { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "disseminated lupus erythematosus", "description": "" }, { "id": "MONDO:0012361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012361", "name": "systemic lupus erythematosus, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012361", "name": "SLEB5", "description": "" }, { "id": "MONDO:0012361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012361", "name": "systemic lupus erythematosus, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012404", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012404", "name": "systemic lupus erythematosus, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012404", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012404", "name": "SLEB8", "description": "" }, { "id": "MONDO:0012404", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012404", "name": "systemic lupus erythematosus, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012403", "name": "systemic lupus erythematosus, susceptibility to, 7", "description": "" }, { "id": "MONDO:0012403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012403", "name": "SLEB7", "description": "" }, { "id": "MONDO:0012403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012403", "name": "systemic lupus erythematosus, susceptibility to, 7", "description": "" }, { "id": "MONDO:0012836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012836", "name": "systemic lupus erythematosus, susceptibility to, 12", "description": "" }, { "id": "MONDO:0012836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012836", "name": "SLEB12", "description": "" }, { "id": "MONDO:0012836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012836", "name": "systemic lupus erythematosus, susceptibility to, 12", "description": "" }, { "id": "MONDO:0013152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013152", "name": "systemic lupus erythematosus, susceptibility to, 14", "description": "" }, { "id": "MONDO:0013152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013152", "name": "SLEB14", "description": "" }, { "id": "MONDO:0013152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013152", "name": "systemic lupus erythematosus, susceptibility to, 14", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus", "description": "An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific." }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "SLE", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "SLE - lupus erythematosus, systemic", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "disseminated lupus erythematosus", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "lupus erythematosus, systemic", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus (disease)", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus susceptibility to", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus, susceptibility to", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "excess LMW-DNA", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "excess lymphocyte low molecular weight DNA", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "lupus nephritis, susceptibility to", "description": "" }, { "id": "MONDO:0010433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010433", "name": "systemic lupus erythematosus, susceptibility to, 15", "description": "" }, { "id": "MONDO:0010433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010433", "name": "SLEB15", "description": "" }, { "id": "MONDO:0010433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010433", "name": "systemic lupus erythematosus, susceptibility to, 15", "description": "" }, { "id": "MONDO:0012036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012036", "name": "systemic lupus erythematosus, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012036", "name": "SLEB4", "description": "" }, { "id": "MONDO:0012036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012036", "name": "systemic lupus erythematosus, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012369", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012369", "name": "systemic lupus erythematosus, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012369", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012369", "name": "SLEB6", "description": "" }, { "id": "MONDO:0012369", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012369", "name": "systemic lupus erythematosus, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012884", "name": "systemic lupus erythematosus, susceptibility to, 13", "description": "" }, { "id": "MONDO:0012884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012884", "name": "SLEB13", "description": "" }, { "id": "MONDO:0012884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012884", "name": "systemic lupus erythematosus, susceptibility to, 13", "description": "" }, { "id": "MONDO:0011560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011560", "name": "systemic lupus erythematosus, susceptibility to, 3", "description": "" }, { "id": "MONDO:0011560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011560", "name": "SLEB3", "description": "" }, { "id": "MONDO:0011560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011560", "name": "systemic lupus erythematosus, susceptibility to, 3", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "autosomal systemic lupus erythematosus type 16", "description": "An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3." }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "autosomal SLE", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "familial SLE", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "familial systemic lupus erythematosus", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "SLEB16", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "systemic lupus erythematosus 16", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "systemic lupus erythematosus type 16", "description": "" }, { "id": "MIM:152700", "resource": "MIM", "url": "https://www.omim.org/entry/152700", "name": "Systemic lupus erythematosus", "description": "Systemic lupus erythematosus" }, { "id": "MIM:609939", "resource": "MIM", "url": "https://www.omim.org/entry/609939", "name": "Systemic lupus erythematosus 6", "description": "Systemic lupus erythematosus 6" }, { "id": "MIM:614420", "resource": "MIM", "url": "https://www.omim.org/entry/614420", "name": "Systemic lupus erythematosus 16", "description": "Systemic lupus erythematosus 16" } ], "evidence": [ { "id": "9074", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ] }, { "disease_id": "DOID:9744", "recommended_name": { "id": "DOID:9744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production." }, "synonyms": [ { "id": "DOID:9744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9744", "name": "IDDM", "description": "" }, { "id": "DOID:9744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9744", "name": "insulin-dependent diabetes mellitus", "description": "" }, { "id": "DOID:9744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9744", "name": "type I diabetes mellitus", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "type 1 diabetes mellitus", "description": "A chronic condition characterized by minimal or absent production of insulin by the pancreas." }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "IDDM", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "diabetes 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"url": "https://glygen.org/publication/PubMed/19446473" } ] }, { "start_pos": 213, "end_pos": 213, "sequence_org": "R", "sequence_mut": "L", "comment": "Strongly decreased cytotoxicity.", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" }, { "database": "PubMed", "id": "19446473", "url": "https://glygen.org/publication/PubMed/19446473" } ] }, { "start_pos": 343, "end_pos": 343, "sequence_org": "E", "sequence_mut": "R", "comment": "Strongly decreased cytotoxicity.", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" }, { "database": "PubMed", "id": "19446473", "url": "https://glygen.org/publication/PubMed/19446473" } ] }, { "start_pos": 427, "end_pos": 430, "sequence_org": "WGDY", "sequence_mut": "AGDA", "comment": "Abolished lipid-binding and pore formation; when associated with 486-A--A-488.", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" }, { "database": "PubMed", "id": "26306037", "url": "https://glygen.org/publication/PubMed/26306037" } ] }, { "start_pos": 429, "end_pos": 429, "sequence_org": "D", "sequence_mut": "N", "comment": "Abolished binding of the weakest calcium-binding site, leading to impaired interaction with lipid membranes.", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" }, { "database": "PubMed", "id": "26306037", "url": "https://glygen.org/publication/PubMed/26306037" } ] }, { "start_pos": 435, "end_pos": 435, "sequence_org": "D", "sequence_mut": "N", "comment": "Abolished binding of the weakest calcium-binding site, leading to impaired interaction with lipid membranes.", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" }, { "database": "PubMed", "id": "26306037", "url": "https://glygen.org/publication/PubMed/26306037" } ] }, { "start_pos": 483, "end_pos": 483, "sequence_org": "D", "sequence_mut": "N", "comment": "Abolished binding of the weakest calcium-binding site, leading to impaired interaction with lipid membranes.", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" }, { "database": "PubMed", "id": "26306037", "url": "https://glygen.org/publication/PubMed/26306037" } ] }, { "start_pos": 486, "end_pos": 488, "sequence_org": "YGW", "sequence_mut": "AGA", "comment": "Abolished lipid-binding and pore formation; when associated with 427-A--A-430.", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" }, { "database": "PubMed", "id": "26306037", "url": "https://glygen.org/publication/PubMed/26306037" } ] }, { "start_pos": 490, "end_pos": 490, "sequence_org": "D", "sequence_mut": "N", "comment": "Does not affect interaction with lipid membranes.", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" }, { "database": "PubMed", "id": "26306037", "url": "https://glygen.org/publication/PubMed/26306037" } ] }, { "start_pos": 491, "end_pos": 491, "sequence_org": "D", "sequence_mut": "N", "comment": "Decreased calcium-binding.", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" }, { "database": "PubMed", "id": "26306037", "url": "https://glygen.org/publication/PubMed/26306037" } ] } ], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Prf1", "url": "https://www.uniprot.org/uniprot/P10820", "locus": { "chromosome": "10", "start_pos": 61140459, "end_pos": 61133612, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000037202", "url": "https://www.ensembl.org/id/ENSMUSG00000037202" } ] } } ], "crossref": [ { "id": "ENSMUSG00000037202", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000037202", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd04032", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd04032", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "18646", "url": "https://www.ncbi.nlm.nih.gov/gene/18646", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR000008", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000008", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR020863", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020863", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR020864", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020864", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035892", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035892", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR037300", "url": "https://www.ebi.ac.uk/interpro/entry/IPR037300", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "mmu:18646", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:18646", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "97551", "url": "http://www.informatics.jax.org/marker/MGI:97551", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "LCKNALQ", "url": "https://omabrowser.org/oma/group/LCKNALQ/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4221421at2759", "url": "http://www.orthodb.org/?query=4221421at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR46096", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46096", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR46096:SF3", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46096:SF3", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "3NSJ", "url": "https://www.rcsb.org/structure/3NSJ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4Y1S", "url": "https://www.rcsb.org/structure/4Y1S", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4Y1T", "url": "https://www.rcsb.org/structure/4Y1T", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5UG6", "url": "https://www.rcsb.org/structure/5UG6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5UG7", "url": "https://www.rcsb.org/structure/5UG7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7PAG", "url": "https://www.rcsb.org/structure/7PAG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00168", "url": "http://pfam.xfam.org/family/PF00168", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01823", "url": "http://pfam.xfam.org/family/PF01823", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_P10820", "url": "http://purl.obolibrary.org/obo/PR_P10820", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_035203", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_035203", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10820-1", "url": "https://www.uniprot.org/uniprot/P10820-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MATCLFLLGLFLLLPRPVPAPCYTATRSECKQKHKFVPGVWMAGEGMDVTTLRRSGSFPVNTQRFLRPDRTCTLCKNSLMRDATQRLPVAITHWRPHSSHCQRNVAAAKVHSTEGVAREAAANINNDWRVGLDVNPRPEANMRASVAGSHSKVANFAAEKTYQDQYNFNSDTVECRMYSFRLVQKPPLHLDFKKALRALPRNFNSSTEHAYHRLISSYGTHFITAVDLGGRISVLTALRTCQLTLNGLTADEVGDCLNVEAQVSIGAQASVSSEYKACEEKKKQHKMATSFHQTYRERHVEVLGGPLDSTHDLLFGNQATPEQFSTWTASLPSNPGLVDYSLEPLHTLLEEQNPKREALRQAISHYIMSRARWQNCSRPCRSGQHKSSHDSCQCECQDSKVTNQDCCPRQRGLAHLVVSNFRAEHLWGDYTTATDAYLKVFFGGQEFRTGVVWNNNNPRWTDKMDFENVLLSTGGPLRVQVWDADYGWDDDLLGSCDRSPHSGFHEVTCELNHGRVKFSYHAKCLPHLTGGTCLEYAPQGLLGDPPGNRSGAVW", "length": 554, "header": "sp|P10820-1|PERF_MOUSE Isoform 1 of Perforin-1 OS=Mus musculus OX=10090 GN=Prf1 PE=1 SV=2 CANONICAL=P10820-1" }, "isoforms": [ { "isoform_ac": "P10820-1", "url": "", "sequence": { "sequence": "MATCLFLLGLFLLLPRPVPAPCYTATRSECKQKHKFVPGVWMAGEGMDVTTLRRSGSFPVNTQRFLRPDRTCTLCKNSLMRDATQRLPVAITHWRPHSSHCQRNVAAAKVHSTEGVAREAAANINNDWRVGLDVNPRPEANMRASVAGSHSKVANFAAEKTYQDQYNFNSDTVECRMYSFRLVQKPPLHLDFKKALRALPRNFNSSTEHAYHRLISSYGTHFITAVDLGGRISVLTALRTCQLTLNGLTADEVGDCLNVEAQVSIGAQASVSSEYKACEEKKKQHKMATSFHQTYRERHVEVLGGPLDSTHDLLFGNQATPEQFSTWTASLPSNPGLVDYSLEPLHTLLEEQNPKREALRQAISHYIMSRARWQNCSRPCRSGQHKSSHDSCQCECQDSKVTNQDCCPRQRGLAHLVVSNFRAEHLWGDYTTATDAYLKVFFGGQEFRTGVVWNNNNPRWTDKMDFENVLLSTGGPLRVQVWDADYGWDDDLLGSCDRSPHSGFHEVTCELNHGRVKFSYHAKCLPHLTGGTCLEYAPQGLLGDPPGNRSGAVW", "length": 554, "header": "sp|P10820-1|PERF_MOUSE Isoform 1 of Perforin-1 OS=Mus musculus OX=10090 GN=Prf1 PE=1 SV=2 CANONICAL=P10820-1" }, "locus": { "chromosome": "10", "start_pos": 61139705, "end_pos": 61135726, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000035419", "url": "https://www.ensembl.org/id/ENSMUST00000035419" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000041483", "url": "https://www.ensembl.org/id/ENSMUSP00000041483" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "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": "P10820", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10820#ptm_processing" }, { "id": "21037563", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21037563" }, { "id": "35148176", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35148176" }, { "id": "3NSJ", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3NSJ" }, { "id": "7PAG", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/7PAG" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 375, "start_aa": "Asn", "end_pos": 375, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn375", "evidence": [ { "id": "P10820", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10820#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 548, "start_aa": "Asn", "end_pos": 548, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn548", "evidence": [ { "id": "P10820", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10820#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported" ], "publication": [ { "title": "Structure and function of the murine perforin promoter and upstream region. Reciprocal gene activation or silencing in perforin positive and negative cells.", "journal": "J. Immunol.", "date": "1992", "authors": "Lichtenheld MG, Podack ER", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" } ], "reference": [ { "type": "PubMed", "id": "1401900", "url": "https://glygen.org/publication/PubMed/1401900" } ] }, { "title": "The molecular basis for perforin oligomerization and transmembrane pore assembly.", "journal": "Immunity", "date": "2009", "authors": "Baran K, Dunstone M, Chia J, Ciccone A, Browne KA, Clarke CJ, Lukoyanova N, Saibil H, Whisstock JC, Voskoboinik I, Trapani JA", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" } ], "reference": [ { "type": "PubMed", "id": "19446473", "url": "https://glygen.org/publication/PubMed/19446473" } ] }, { "title": "Subcellular localization of perforin and serine esterase in lymphokine-activated killer cells and cytotoxic T cells by immunogold labeling.", "journal": "J. Immunol.", "date": "1991", "authors": "Ojcius D.M., Zheng L.M., Zychlinsky A., Young J.D.-E., Sphicas E.C.", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" } ], "reference": [ { "type": "PubMed", "id": "2040805", "url": "https://glygen.org/publication/PubMed/2040805" } ] }, { "title": "The structural basis for membrane binding and pore formation by lymphocyte perforin.", "journal": "Nature", "date": "2010", "authors": "Law RH, Lukoyanova N, Voskoboinik I, Caradoc-Davies TT, Baran K, Dunstone MA, D'Angelo ME, Orlova EV, Coulibaly F, Verschoor S, Browne KA, Ciccone A, Kuiper MJ, Bird PI, Trapani JA, Saibil HR, Whisstock JC", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820#ptm_processing" }, { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" } ], "reference": [ { "type": "PubMed", "id": "21037563", "url": "https://glygen.org/publication/PubMed/21037563" } ] }, { "title": "Genomic organization of the mouse pore-forming protein (perforin) gene and localization to chromosome 10. Similarities to and differences from C9.", "journal": "J. Exp. Med.", "date": "1990", "authors": "Dupont B., Kozak C.A., Trapani J.A., Kwon B.S., Young J.D., Chintamaneni C.", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" } ], "reference": [ { "type": "PubMed", "id": "2303785", "url": "https://glygen.org/publication/PubMed/2303785" } ] }, { "title": "Structural Basis for Ca2+-mediated Interaction of the Perforin C2 Domain with Lipid Membranes.", "journal": "J. Biol. Chem.", "date": "2015", "authors": "Yagi H, Conroy PJ, Leung EW, Law RH, Trapani JA, Voskoboinik I, Whisstock JC, Norton RS", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" } ], "reference": [ { "type": "PubMed", "id": "26306037", "url": "https://glygen.org/publication/PubMed/26306037" } ] }, { "title": "Cloning, analysis, and expression of murine perforin 1 cDNA, a component of cytolytic T-cell granules with homology to complement component C9.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1989", "authors": "Rupp F., Podack E.R., Lichtenheld M., Lowrey D.M., Hengartner H., Aebischer Y., Olsen K.", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" } ], "reference": [ { "type": "PubMed", "id": "2783486", "url": "https://glygen.org/publication/PubMed/2783486" } ] }, { "title": "The structure of the mouse lymphocyte pore-forming protein perforin.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1989", "authors": "Trapani J.A., Kim Y., Liu C.C., Kwon B.S., Haq A.K., Wakulchik M., Young J.D.-E., Persechini P.M.", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" } ], "reference": [ { "type": "PubMed", "id": "2783549", "url": "https://glygen.org/publication/PubMed/2783549" } ] }, { "title": "The primary structure of the lymphocyte pore-forming protein perforin: partial amino acid sequencing and determination of isoelectric point.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1988", "authors": "Young J.D.-E., Persechini P.M.", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" } ], "reference": [ { "type": "PubMed", "id": "3190678", "url": "https://glygen.org/publication/PubMed/3190678" } ] }, { "title": "Homology of perforin to the ninth component of complement (C9).", "journal": "Nature", "date": "1988", "authors": "Okumura K., Shinkai Y., Takio K.", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" } ], "reference": [ { "type": "PubMed", "id": "3261391", "url": "https://glygen.org/publication/PubMed/3261391" } ] }, { "title": "The pore conformation of lymphocyte perforin.", "journal": "Science advances", "date": "2022", "authors": "Ivanova ME, Lukoyanova N, Malhotra S, Topf M, Trapani JA, Voskoboinik I, Saibil HR", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820#ptm_processing" }, { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" } ], "reference": [ { "type": "PubMed", "id": "35148176", "url": "https://glygen.org/publication/PubMed/35148176" } ] }, { "title": "Immune function in mice lacking the perforin gene.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1994", "authors": "Huang M.T., Ueda R., Liu C.C., Matloubian M., Young J.D., Clark W.R., Ahmed R., Christensen J.L., Kurahara C.G., Walsh C.M.", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" } ], "reference": [ { "type": "PubMed", "id": "7526382", "url": "https://glygen.org/publication/PubMed/7526382" } ] }, { "title": "Cytotoxicity mediated by T cells and natural killer cells is greatly impaired in perforin-deficient mice.", "journal": "Nature", "date": "1994", "authors": "Podack E.R., Hengartner H., Olsen K.J., Seiler P., Burki K., Zinkernagel R.M., Odermatt B., Ledermann B., Kagi D.", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" } ], "reference": [ { "type": "PubMed", "id": "8164737", "url": "https://glygen.org/publication/PubMed/8164737" } ] } ], "pathway": [ { "id": "mmu:18646", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:18646", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "P14222-1", "protein_name": "Perforin-1", "gene_name": "PRF1", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MAARLLLLGILLLLLPLPVPAPCHTAARSECKRSHKFVPGAWLAGEGVDVTSLRRSGSFPVDTQRFLRPDGTCTLCENALQEGTLQRLPLALTNWRAQGSGCQRHVTRAKVSSTEAVARDAARSIRNDWKVGLDVTPKPTSNVHVSVAGSHSQAANFAAQKTHQDQYSFSTDTVECRFYSFHVVHTPPLHPDFKRALGDLPHHFNASTQPAYLRLISNYGTHFIRAVELGGRISALTALRTCELALEGLTDNEVEDCLTVEAQVNIGIHGSISAEAKACEEKKKKHKMTASFHQTYRERHSEVVGGHHTSINDLLFGIQAGPEQYSAWVNSLPGSPGLVDYTLEPLHVLLDSQDPRREALRRALSQYLTDRARWRDCSRPCPPGRQKSPRDPCQCVCHGSAVTTQDCCPRQRGLAQLEVTFIQAWGLWGDWFTATDAYVKLFFGGQELRTSTVWDNNNPIWSVRLDFGDVLLATGGPLRLQVWDQDSGRDDDLLGTCDQAPKSGSHEVRCNLNHGHLKFRYHARCLPHLGGGTCLDYVPQMLLGEPPGNRSGAVW", "length": 555 }, "evidence": [ { "id": "45230971", "url": "http://www.informatics.jax.org/homology/45230971", "database": "MGI" }, { "id": "P10820", "url": "https://omabrowser.org/oma/group/P10820/", "database": "OMA" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "P35763-1", "protein_name": "Perforin-1", "gene_name": "Prf1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAAYLFLLGLFLLLPRPVPAPCYTATRSECKQNHKFVPGVWAAGEGVDVTTLRRSSSFPVNTGKFLRPDRTCTLCKNALMNDGIQRLPVAIAHWRPHGSHCQRNVATTKVSSTEGVAREAAANINNDWRAGLDVNPKPEANVHVSVAGSHSKIANFAAEKAHQDQYNFNTDTVECRMYSFRLAQKPPLHPDFRKALKNLPHNFNSSTEHAYRRLISSYGTHFITAVDLGGRVSVLTALRTCQLTLDGLTADEVGDCLSVEAQVSIGAQASVSSEYKACEEKKKQHKIATSFHQTYRERHVEVLGGPLDSSNDLLFGNQATPEHFSTWIASLPTRPDVVDYSLEPLHILLEDSDPKREALRQAISHYVMSRARWRDCNRPCRAGQHKSSRDSCQCVCQDSNVTNQDCCPRQRGLAKLMVRNFQAKGLWGDYITSTDAYLKVFFGGQEIRTGVVWNNNHPSWSDKMDFGNVLLSTGGPLRVQVWDADNGWDDDLLGTCDKSPKSGFHEVNCPLNHGSIKFIYQANCLPDLTGETCLEYAPQGLLGDPRGNRSGAVW", "length": 554 }, "evidence": [ { "id": "45230971", "url": "http://www.informatics.jax.org/homology/45230971", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 13, "go_terms": [ { "name": "positive regulation of killing of cells of another organism", "id": "GO:0051712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051712", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" } ], "pmid": "" }, { "name": "immune response to tumor cell", "id": "GO:0002418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002418", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" } ], "pmid": "" }, { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": 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], "pmid": "" }, { "name": "T cell mediated cytotoxicity", "id": "GO:0001913", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001913", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" } ], "pmid": "" }, { "name": "immunological synapse formation", "id": "GO:0001771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001771", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" } ], "pmid": "" }, { "name": "protein transmembrane transport", "id": "GO:0071806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071806", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" } ], "pmid": "" }, { "name": "defense response to tumor cell", "id": "GO:0002357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002357", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" } ], "pmid": "" }, { "name": "granzyme-mediated programmed cell death signaling pathway", "id": "GO:0140507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140507", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 8, "go_terms": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" } ], "pmid": "" }, { "name": "endosome lumen", "id": "GO:0031904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031904", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" } ], "pmid": "" }, { "name": "immunological synapse", "id": "GO:0001772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001772", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" } ], "pmid": "" }, { "name": "cytolytic granule", "id": "GO:0044194", "url": 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"GO:0140911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140911", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprot/P10820" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 204, "end_pos": 206, "annotation": "n_glycosylation_sequon" }, { "start_pos": 375, "end_pos": 377, "annotation": "n_glycosylation_sequon" }, { "start_pos": 548, "end_pos": 550, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "N-glycosylated. 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