{ "uniprot_canonical_ac": "P06909-1", "uniprot_ac": "P06909", "uniprot_id": "CFAH_MOUSE", "mass": { "chemical_mass": 139138.0, "monoisotopic_mass": 139138.0 }, "refseq": { "ac": "NP_034018", "name": "complement factor H precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034018" }, "gene_names": [ { "name": "Cfh", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P06909", "id": "P06909" }, { "name": "Cfh", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034018", "id": "NP_034018" }, { "name": "Hf1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P06909", "id": "P06909" }, { "name": "Mud-1; NOM; Sas-1; Sas1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034018", "id": "NP_034018" } ], "protein_names": [ { "name": "Complement factor H", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P06909" }, { "name": "Protein beta-1-H", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P06909" }, { "name": "complement factor H precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034018", "id": "NP_034018" }, { "name": "complement factor H related protein 3A4/5G4; protein beta-1-H", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034018", "id": "NP_034018" } ], "function": [ { "annotation": "Cell-autonomous regulation of complement C3 by factor H limits macrophage efferocytosis and exacerbates atherosclerosis.", "evidence": [ { "database": "RefSeq", "id": "NP_034018", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034018" }, { "database": "PubMed", "id": "37499656", "url": "https://glygen.org/publication/PubMed/37499656" } ] }, { "annotation": "Complement factor H deficiency combined with smoking promotes retinal degeneration in a novel mouse model.", "evidence": [ { "database": "RefSeq", "id": "NP_034018", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034018" }, { "database": "PubMed", "id": "34775843", "url": "https://glygen.org/publication/PubMed/34775843" } ] }, { "annotation": "Glycoprotein that plays an essential role in maintaining a well-balanced immune response by modulating complement activation. Acts as a soluble inhibitor of complement, where its binding to self markers such as glycan structures prevents complement activation and amplification on cell surfaces. Accelerates the decay of the complement alternative pathway (AP) C3 convertase C3bBb, thus preventing local formation of more C3b, the central player of the complement amplification loop. As a cofactor of the serine protease factor I, CFH also regulates proteolytic degradation of already-deposited C3b. In addition, mediates several cellular responses through interaction with specific receptors. For example, interacts with CR3/ITGAM receptor and thereby mediates the adhesion of human neutrophils to different pathogens. In turn, these pathogens are phagocytosed and destroyed.", "evidence": [ { "database": "UniProtKB", "id": "P06909", "url": "https://www.uniprot.org/uniprot/P06909#function" }, { "database": "UniProtKB", "id": "P08603", "url": "https://www.uniprot.org/uniprot/P08603#function" } ] }, { "annotation": "Local complement factor H protects kidney endothelial cell structure and function.", "evidence": [ { "database": "RefSeq", "id": "NP_034018", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034018" }, { "database": "PubMed", "id": "34139209", "url": "https://glygen.org/publication/PubMed/34139209" } ] } ], "disease": [ { "disease_id": "DOID:0060746", "recommended_name": { "id": "DOID:0060746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060746", "name": "basal laminar drusen", "description": "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3." }, "synonyms": [ { "id": "DOID:0060746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060746", "name": "cuticular drusen", "description": "" }, { "id": "DOID:0060746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060746", "name": "drusen of bruch membrane", "description": "" }, { "id": "DOID:0060746", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060746", "name": "early adult-onset grouped drusen", "description": "" }, { "id": "MONDO:0007472", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007472", "name": "basal laminar drusen", "description": "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has material basis in mutations in the CFH gene on chromosome 1q31.3." }, { "id": "MONDO:0007472", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007472", "name": "basal laminar drusen", "description": "" }, { "id": "MONDO:0007472", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007472", "name": "cuticular drusen", "description": "" }, { "id": "MONDO:0007472", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007472", "name": "drusen of Bruch membrane", "description": "" }, { "id": "MONDO:0007472", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007472", "name": "early adult-onset grouped drusen", "description": "" }, { "id": "MONDO:0007472", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007472", "name": "drusen, cuticular", "description": "" }, { "id": "MONDO:0007472", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007472", "name": "drusen, early adult-onset, grouped", "description": "" }, { "id": "MIM:126700", "resource": "MIM", "url": "https://www.omim.org/entry/126700", "name": "Basal laminar drusen", "description": "Basal laminar drusen" } ], "evidence": [ { "id": "0060746", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060746" } ] }, { "disease_id": "DOID:0080162", "recommended_name": { "id": "DOID:0080162", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080162", "name": "lupus nephritis", "description": "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus." }, "synonyms": [], "evidence": [ { "id": "0080162", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080162" } ] }, { "disease_id": "DOID:0080301", "recommended_name": { "id": "DOID:0080301", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080301", "name": "atypical hemolytic-uremic syndrome", "description": "A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction." }, "synonyms": [], "evidence": [ { "id": "0080301", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080301" } ] }, { "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:0110017", "recommended_name": { "id": "DOID:0110017", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110017", "name": "age related macular degeneration 4", "description": "An age related macular degeneration conferred by variation in the CFH gene on chromosome 1q31." }, "synonyms": [ { "id": "DOID:0110017", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110017", "name": "ARMD4", "description": "" }, { "id": "MONDO:0012540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012540", "name": "age related macular degeneration 4", "description": "Any age-related macular degeneration in which the cause of the disease is a mutation in the CFH gene." }, { "id": "MONDO:0012540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012540", "name": "ARMD4", "description": "" }, { "id": "MONDO:0012540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012540", "name": "CFH age-related macular degeneration", "description": "" }, { "id": "MONDO:0012540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012540", "name": "age related macular degeneration type 4", "description": "" }, { "id": "MONDO:0012540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012540", "name": "age-related macular degeneration caused by mutation in CFH", "description": "" }, { "id": "MONDO:0012540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012540", "name": "macular Degeneration, age-related, type 4", "description": "" }, { "id": "MONDO:0012540", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012540", "name": "macular degeneration, age-related, 4", "description": "" }, { "id": "MIM:610698", "resource": "MIM", "url": "https://www.omim.org/entry/610698", "name": "Macular degeneration, age-related, 4", "description": "Macular degeneration, age-related, 4" } ], "evidence": [ { "id": "0110017", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110017" } ] }, { "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:11335", "recommended_name": { "id": "DOID:11335", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs." }, "synonyms": [ { "id": "DOID:11335", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11335", "name": "Boeck sarcoid", "description": "" }, { "id": "DOID:11335", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11335", "name": "lymphogranulomatosis", "description": "" } ], "evidence": [ { "id": "11335", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ] }, { "disease_id": "DOID:12030", "recommended_name": { "id": "DOID:12030", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12030", "name": "panuveitis", "description": "An uveitis that is characterized by inflammation of all layers of the uvea (middle layer) of the eye, which includes the iris, ciliary body, and choroid." }, "synonyms": [ { "id": "DOID:12030", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12030", "name": "Diffuse uveitis", "description": "" } ], "evidence": [ { "id": "12030", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12030" } ] }, { "disease_id": "DOID:12554", "recommended_name": { "id": "DOID:12554", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12554", "name": "hemolytic-uremic syndrome", "description": "A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs." }, "synonyms": [ { "id": "DOID:12554", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12554", "name": "haemolytic-uraemic syndrome", "description": "" }, { "id": "DOID:12554", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12554", "name": "hemolytic uremic syndrome", "description": "" } ], "evidence": [ { "id": "12554", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12554" } ] }, { "disease_id": "DOID:12574", "recommended_name": { "id": "DOID:12574", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12574", "name": "posterior uveitis", "description": "" }, "synonyms": [ { "id": "DOID:12574", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12574", "name": "Uveitis, posterior", "description": "" } ], "evidence": [ { "id": "12574", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12574" } ] }, { "disease_id": "DOID:1287", "recommended_name": { "id": "DOID:1287", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis." }, "synonyms": [ { "id": "DOID:1287", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1287", "name": "disease of subdivision of hemolymphoid system", "description": "" } ], "evidence": [ { "id": "1287", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ] }, { "disease_id": "DOID:13603", "recommended_name": { "id": "DOID:13603", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13603", "name": "obstructive jaundice", "description": "A cholestasis characterized by yellowish pigmentation of the skin and sclera due to high bilirubin levels resulting from biliary tract obstruction." }, "synonyms": [ { "id": "DOID:13603", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13603", "name": "Cholestatic Jaundice", "description": "" }, { "id": "DOID:13603", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13603", "name": "Cholestatic jaundice syndrome", "description": "" }, { "id": "DOID:13603", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13603", "name": "Obstructive hyperbilirubinemia", "description": "" } ], "evidence": [ { "id": "13603", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13603" } ] }, { "disease_id": "DOID:1407", "recommended_name": { "id": "DOID:1407", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1407", "name": "anterior uveitis", "description": "" }, "synonyms": [], "evidence": [ { "id": "1407", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1407" } ] }, { "disease_id": "DOID:1686", "recommended_name": { "id": "DOID:1686", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function." }, "synonyms": [], "evidence": [ { "id": "1686", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ] }, { "disease_id": "DOID:1749", "recommended_name": { "id": "DOID:1749", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells." }, "synonyms": [ { "id": "DOID:1749", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1749", "name": "epidermoid carcinoma", "description": "" }, { "id": "DOID:1749", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1749", "name": "malignant squamous cell tumor", "description": "" }, { "id": "DOID:1749", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1749", "name": "squamous carcinoma", "description": "" }, { "id": "DOID:1749", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1749", "name": "squamous cell Epithelioma", "description": "" }, { "id": "DOID:1749", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1749", "name": "squamous cell cancer", "description": "" } ], "evidence": [ { "id": "1749", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ] }, { "disease_id": "DOID:2527", "recommended_name": { "id": "DOID:2527", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation." }, "synonyms": [], "evidence": [ { "id": "2527", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ] }, { "disease_id": "DOID:2569", "recommended_name": { "id": "DOID:2569", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2569", "name": "retinal drusen", "description": "" }, "synonyms": [], "evidence": [ { "id": "2569", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2569" } ] }, { "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:3454", "recommended_name": { "id": "DOID:3454", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3454", "name": "brain infarction", "description": "A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain." }, "synonyms": [], "evidence": [ { "id": "3454", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3454" } ] }, { "disease_id": "DOID:4448", "recommended_name": { "id": "DOID:4448", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss." }, "synonyms": [ { "id": "DOID:4448", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4448", "name": "Macular degeneration of retina", "description": "" } ], "evidence": [ { "id": "4448", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ] }, { "disease_id": "DOID:5327", "recommended_name": { "id": "DOID:5327", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5327", "name": "retinal detachment", "description": "" }, "synonyms": [ { "id": "MONDO:0008375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008375", "name": "retinal detachment", "description": "An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision." }, { "id": "MONDO:0008375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008375", "name": "detached retina", "description": "" }, { "id": "MONDO:0008375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008375", "name": "retina, detached", "description": "" }, { "id": "MONDO:0008375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008375", "name": "retinal detachment", "description": "" }, { "id": "MONDO:0008375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008375", "name": "retinal detachment", "description": "An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision." }, { "id": "MONDO:0008375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008375", "name": "detached retina", "description": "" }, { "id": "MONDO:0008375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008375", "name": "retina, detached", "description": "" }, { "id": "MONDO:0008375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008375", "name": "retinal detachment", "description": "" } ], "evidence": [ { "id": "5327", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5327" } ] }, { "disease_id": "DOID:576", "recommended_name": { "id": "DOID:576", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine." }, "synonyms": [], "evidence": [ { "id": "576", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:576" } ] }, { "disease_id": "DOID:670", "recommended_name": { "id": "DOID:670", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:670", "name": "amphetamine abuse", "description": "A substance abuse that involves the recurring use of amphetamines despite negative consequences." }, "synonyms": [], "evidence": [ { "id": "670", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:670" } ] }, { "disease_id": "DOID:8466", "recommended_name": { "id": "DOID:8466", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8466", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina." }, "synonyms": [ { "id": "DOID:8466", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8466", "name": "degeneration of retina", "description": "" } ], "evidence": [ { "id": "8466", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8466" } ] }, { "disease_id": "DOID:8893", "recommended_name": { "id": "DOID:8893", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales." }, "synonyms": [ { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "psoriasis 1, susceptibility to", "description": "Any psoriasis in which the cause of the disease is a mutation in the HLA-C gene." }, { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "HLA-C psoriasis", "description": "" }, { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "psoriasis 1, susceptibility to", "description": "" }, { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "psoriasis caused by mutation in HLA-C", "description": "" }, { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "psoriasis susceptibility 1", "description": "" }, { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "PSORS1", "description": "" }, { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "susceptibility to psoriasis 1", "description": "" }, { "id": "MIM:177900", "resource": "MIM", "url": "https://www.omim.org/entry/177900", "name": "Psoriasis 1", "description": "Psoriasis 1" } ], "evidence": [ { "id": "8893", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ] }, { "disease_id": "DOID:8947", "recommended_name": { "id": "DOID:8947", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8947", "name": "diabetic retinopathy", "description": "" }, "synonyms": [ { "id": "DOID:8947", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8947", "name": "Retinal abnormality - diabetes-related", "description": "" } ], "evidence": [ { "id": "8947", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ] }, { "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" } ] } ], "snv": [ { "evidence": [ { "id": "rs239369781", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs239369781" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1227, "end_pos": 1227, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss 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"https://www.uniprot.org/uniprot/P06909", "locus": { "chromosome": "1", "start_pos": 140012446, "end_pos": 140111502, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000026365", "url": "https://www.ensembl.org/id/ENSMUSG00000026365" } ] } } ], "crossref": [ { "id": "ENSMUSG00000026365", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000026365", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd00033", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00033", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "12628", "url": "https://www.ncbi.nlm.nih.gov/gene/12628", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "817", "url": "https://glyconnect.expasy.org/browser/proteins/817", "database": "GlyConnect", "categories": [ "Glycan", "Glycoproteomics" ] }, { "id": "GPDB0001185", "url": "https://acgg.asia/db/gpdb/symbol/GPDB0001185", "database": "GlycoProtDB", "categories": [ "Glycoproteomics" ] }, { "id": "GPDB0001210", "url": "https://acgg.asia/db/gpdb/symbol/GPDB0001210", "database": "GlycoProtDB", "categories": [ "Glycoproteomics" ] }, { "id": "GPDB0002282", "url": "https://acgg.asia/db/gpdb/symbol/GPDB0002282", "database": "GlycoProtDB", "categories": [ "Glycoproteomics" ] }, { "id": "GPDB0002570", "url": "https://acgg.asia/db/gpdb/symbol/GPDB0002570", "database": "GlycoProtDB", "categories": [ "Glycoproteomics" ] }, { "id": "GPDB0002571", "url": "https://acgg.asia/db/gpdb/symbol/GPDB0002571", "database": "GlycoProtDB", "categories": [ "Glycoproteomics" ] }, { "id": "GPDB0003299", "url": "https://acgg.asia/db/gpdb/symbol/GPDB0003299", "database": "GlycoProtDB", "categories": [ "Glycoproteomics" ] }, { "id": "IPR000436", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000436", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035976", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035976", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "mmu:12628", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:12628", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "88385", "url": "http://www.informatics.jax.org/marker/MGI:88385", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "QWIGRSY", "url": "https://omabrowser.org/oma/group/QWIGRSY/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5346812at2759", "url": "http://www.orthodb.org/?query=5346812at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR45785", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45785", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45785:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45785:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45785:SF7", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45785:SF7", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2YBY", "url": "https://www.rcsb.org/structure/2YBY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00084", "url": "http://pfam.xfam.org/family/PF00084", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_P06909", "url": "http://purl.obolibrary.org/obo/PR_P06909", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_034018", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034018", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0A6YVP8", "url": "https://www.uniprot.org/uniprot/A0A0A6YVP8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0A6YVP8-1", "url": "https://www.uniprot.org/uniprot/A0A0A6YVP8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0A6YWP4", "url": "https://www.uniprot.org/uniprot/A0A0A6YWP4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0A6YWP4-1", "url": "https://www.uniprot.org/uniprot/A0A0A6YWP4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RGQ0", "url": "https://www.uniprot.org/uniprot/D6RGQ0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RGQ0-1", "url": "https://www.uniprot.org/uniprot/D6RGQ0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9Q8H9", "url": "https://www.uniprot.org/uniprot/E9Q8H9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9Q8H9-1", "url": "https://www.uniprot.org/uniprot/E9Q8H9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9Q8I0", "url": "https://www.uniprot.org/uniprot/E9Q8I0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9Q8I0-1", "url": "https://www.uniprot.org/uniprot/E9Q8I0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P06909", "url": "https://www.uniprot.org/uniprot/P06909", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P06909-1", "url": "https://www.uniprot.org/uniprot/P06909-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MRLSARIIWLILWTVCAAEDCKGPPPRENSEILSGSWSEQLYPEGTQATYKCRPGYRTLGTIVKVCKNGKWVASNPSRICRKKPCGHPGDTPFGSFRLAVGSQFEFGAKVVYTCDDGYQLLGEIDYRECGADGWINDIPLCEVVKCLPVTELENGRIVSGAAETDQEYYFGQVVRFECNSGFKIEGHKEIHCSENGLWSNEKPRCVEILCTPPRVENGDGINVKPVYKENERYHYKCKHGYVPKERGDAVCTGSGWSSQPFCEEKRCSPPYILNGIYTPHRIIHRSDDEIRYECNYGFYPVTGSTVSKCTPTGWIPVPRCTLKPCEFPQFKYGRLYYEESLRPNFPVSIGNKYSYKCDNGFSPPSGYSWDYLRCTAQGWEPEVPCVRKCVFHYVENGDSAYWEKVYVQGQSLKVQCYNGYSLQNGQDTMTCTENGWSPPPKCIRIKTCSASDIHIDNGFLSESSSIYALNRETSYRCKQGYVTNTGEISGSITCLQNGWSPQPSCIKSCDMPVFENSITKNTRTWFKLNDKLDYECLVGFENEYKHTKGSITCTYYGWSDTPSCYERECSVPTLDRKLVVSPRKEKYRVGDLLEFSCHSGHRVGPDSVQCYHFGWSPGFPTCKGQVASCAPPLEILNGEINGAKKVEYSHGEVVKYDCKPRFLLKGPNKIQCVDGNWTTLPVCIEEERTCGDIPELEHGSAKCSVPPYHHGDSVEFICEENFTMIGHGSVSCISGKWTQLPKCVATDQLEKCRVLKSTGIEAIKPKLTEFTHNSTMDYKCRDKQEYERSICINGKWDPEPNCTSKTSCPPPPQIPNTQVIETTVKYLDGEKLSVLCQDNYLTQDSEEMVCKDGRWQSLPRCIEKIPCSQPPTIEHGSINLPRSSEERRDSIESSSHEHGTTFSYVCDDGFRIPEENRITCYMGKWSTPPRCVGLPCGPPPSIPLGTVSLELESYQHGEEVTYHCSTGFGIDGPAFIICEGGKWSDPPKCIKTDCDVLPTVKNAIIRGKSKKSYRTGEQVTFRCQSPYQMNGSDTVTCVNSRWIGQPVCKDNSCVDPPHVPNATIVTRTKNKYLHGDRVRYECNKPLELFGQVEVMCENGIWTEKPKCRDSTGKCGPPPPIDNGDITSLSLPVYEPLSSVEYQCQKYYLLKGKKTITCRNGKWSEPPTCLHACVIPENIMESHNIILKWRHTEKIYSHSGEDIEFGCKYGYYKARDSPPFRTKCINGTINYPTCV", "length": 1234, "header": "sp|P06909-1|CFAH_MOUSE Isoform 1 of Complement factor H OS=Mus musculus OX=10090 GN=Cfh PE=1 SV=2 CANONICAL=P06909-1" }, "isoforms": [ { "isoform_ac": "A0A0A6YVP8-1", "url": "", "sequence": { "sequence": "MVQHRFLLESVGPRKIQIMRLSARIIWLILWTVCAAEDCKGPPPRENSEILSGSWSEQLYPEGTQATYKCRPGYRTLGTIVKVCKNGKWVASNPSRICRKKPCGHPGDTPFGSFRLAVGSQFEFGAKVVYTCDDGYQLLGEIDYRECGADGWINDIPLCEVVKCLPVTELENGRIVSGAAETDQEYYFGQVVRFECNSGFKIEGHKEIHCSENGLWSNEKPRCVEILCTPPRVENGDGINVKPVYKENERYHYKCKHGYVPKERGDAVCTGSGWSSQPFCEEKRCSPPYILNGIYTPHRIIHRSDDEIRYECNYGFYPVTGSTVSKCTPTGWIPVPRCTLKPCEFPQFKYGRLYYEESLRPNFPVSIGNKYSYKCDNGFSPPSGYSWDYLRCTAQGWEPEVPCVRKCVFHYVENGDSAYWEKVYVQGQSLKVQCYNGYSLQNGQDTMTCTENGWSPPPKCIRIKTDCDVLPTVKNAIIRGKSKKSYRTGEQVTFRCQSPYQMNGSDTVTCVNSRWIGQPVCKDNSCVDPPHVPNATIVTRTKNKYLHGDRVRYECNKPLELFGQVEVMCENGIWTEKPKCRDSTGKCGPPPPIDNGDITSLSLPVYEPLSSVEYQCQKYYLLKGKKTITCRNGKWSEPPTCLHACVIPENIMESHNIILKWRHTEKIYSHSGEDIEFGCKYGYYKARDSPPFRTKCINGTINYPTCV", "length": 707, "header": "tr|A0A0A6YVP8-1|CFAH_MOUSE Computationally mapped isoform of Complement factor H OS=Mus musculus OX=10090 GN=Cfh PE=1 SV=1 CANONICAL=P06909-1" }, "locus": { "chromosome": "1", "start_pos": 140111014, "end_pos": 140014067, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000192880.6", "url": "https://www.ensembl.org/id/ENSMUST00000192880.6" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000141209.2", "url": "https://www.ensembl.org/id/ENSMUSP00000141209.2" } ] } }, { "isoform_ac": "A0A0A6YWP4-1", "url": "", "sequence": { "sequence": "XPPRVENGDGINVKPVYKENERYHYKCKHGYVPKERGDAVCTGSGWSSQPFCEVKPCEFPQFKYGRLYYEESLRPNFPVSIGNKYSYKCDNGFSPPSGYSWDYLRCTAQGWEPEVPCVRKCVFHYVENGDSAYWEKVYVQGQSLKVQCYNGYSLQNGQDTMTCTENGWSPPPKCIRIKTCSASDIHIDNGFLSESSSIYALNRETSYRCKQGYVTNTGEISGSITCLQNGWSPQPSCIKSCDMPVFENSITKNTRTWFKLNDKLDYECLVGFENEYKHTKGSITCTYYGWSDTPSCYERECSVPTLDRKLVVSPRKEKYRVGDLLEFSCHSGHRVGPDSVQCYHFGWSPGFPTCKGQVASCAPPLEILNGEINGAKKVEYSHGEVVKYDCKPRFLLKGPNKIQCVDGNWTTLPVCIEEERTCGDIPELEHGSAKCSVPPYHHGDSVEFICEENFTMIGHGSVSCISGKWTQLPKCVATDQLEKCRVLKSTGIEAIKPKLTEFTHNSTMDYKCRDKQEYERSICINGKWDPEPNCTSKTSCPPPPQIPNTQVIETTVKYLDGEKLSVLCQDNYLTQDSEEMVCKDGRWQSLPRCIGLPCGPPPSIPLGTVSLELESYQHGEEVTYHCSTGFGIDGPAFIICEGGKWSDPPKCIKTDCDVLPTVKNAIIRGKSKKSYRTGEQVTFRCQSPYQMNGSDTVTCVNSRWIGQPVCKDSTGKCGPPPPIDNGDITSLSLPVYEPLSSVEYQCQKYYLLKGKKTITCRNGKWSEPPTCLHACVIPENIMESHNIILKWRHTEKIYSHSGEDIEFGCKYGYYKARDSPPFRTKCINGTINYPTCV", "length": 837, "header": "tr|A0A0A6YWP4-1|CFAH_MOUSE Computationally mapped isoform of Complement factor H OS=Mus musculus OX=10090 GN=Cfh PE=1 SV=1 CANONICAL=P06909-1" }, "locus": { "chromosome": "1", "start_pos": 140075550, "end_pos": 140014065, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000192919.6", "url": "https://www.ensembl.org/id/ENSMUST00000192919.6" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000141634.2", "url": "https://www.ensembl.org/id/ENSMUSP00000141634.2" } ] } }, { "isoform_ac": "D6RGQ0-1", "url": "", "sequence": { "sequence": "MRLSARIIWLILWTVCAAEDCKGPPPRENSEILSGSWSEQLYPEGTQATYKCRPGYRTLGTIVKVCKNGKWVASNPSRICRKKPCGHPGDTPFGSFRLAVGSQFEFGAKVVYTCDDGYQLLGEIDYRECGADGWINDIPLCEVVKCLPVTELENGRIVSGAAETDQEYYFGQVVRFECNSGFKIEGHKEIHCSENGLWSNEKPRCVEILCTPPRVENGDGINVKPVYKENERYHYKCKHGYVPKERGDAVCTGSGWSSQPFCEEKRCSPPYILNGIYTPHRIIHRSDDEIRYECNYGFYPVTGSTVSKCTPTGWIPVPRCTLKPCEFPQFKYGRLYYEESLRPNFPVSIGNKYSYKCDNGFSPPSGYSWDYLRCTAQGWEPEVPCVRKCVFHYVENGDSAYWEKVYVQGQSLKVQCYNGYSLQNGQDTMTCTENGWSPPPKCIRIKTCSASDIHIDNGFLSESSSIYALNRETSYRCKQGYVTNTGEISGSITCLQNGWSPQPSCIKSCDMPVFENSITKNTRTWFKLNDKLDYECLVGFENEYKHTKGSITCTYYGWSDTPSCYERECSVPTLDRKLVVSPRKEKYRVGDLLEFSCHSGHRVGPDSVQCYHFGWSPGFPTCKGQVASCAPPLEILNGEINGAKKVEYSHGEVVKYDCKPRFLLKGPNKIQCVDGNWTTLPVCIEEERTCGDIPELEHGSAKCSVPPYHHGDSVEFICEENFTMIGHGSVSCISGKWTQLPKCVATDQLEKCRVLKSTGIEAIKPKLTEFTHNSTMDYKCRDKQEYERSICINGKWDPEPNCTSKTSCPPPPQIPNTQVIETTVKYLDGEKLSVLCQDNYLTQDSEEMVCKDGRWQSLPRCIEKIPCSQPPTIEHGSINLPRSSEERRDSIESSSHEHGTTFSYVCDDGFRIPEENRITCYMGKWSTPPRCVGLPCGPPPSIPLGTVSLELESYQHGEEVTYHCSTGFGIDGPAFIICEGGKWSDPPKCIKTDCDVLPTVKNAIIRGKSKKSYRTGEQVTFRCQSPYQMNGSDTVTCVNSRWIGQPVCKDNSCVDPPHVPNATIVTRTKNKYLHGDRVRYECNKPLELFGQVEVMCENGIWTEKPKCRGL", "length": 1110, "header": "tr|D6RGQ0-1|CFAH_MOUSE Computationally mapped isoform of Complement factor H OS=Mus musculus OX=10090 GN=Cfh PE=1 SV=1 CANONICAL=P06909-1" }, "locus": { "chromosome": "1", "start_pos": 140110960, "end_pos": 140016622, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000123238.2", "url": "https://www.ensembl.org/id/ENSMUST00000123238.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000115166.2", "url": "https://www.ensembl.org/id/ENSMUSP00000115166.2" } ] } }, { "isoform_ac": "E9Q8H9-1", "url": "", "sequence": { "sequence": "MVQHRFLLESVGPRKIQIMRLSARIIWLILWTVCAAEDCKGPPPRENSEILSGSWSEQLYPEGTQATYKCRPGYRTLGTIVKVCKNGKWVASNPSRICRKKPCGHPGDTPFGSFRLAVGSQFEFGAKVVYTCDDGYQLLGEIDYRECGADGWINDIPLCEVVKCLPVTELENGRIVSGAAETDQEYYFGQVVRFECNSGFKIEGHKEIHCSENGLWSNEKPRCVEILCTPPRVENGDGINVKPVYKENERYHYKCKHGYVPKERGDAVCTGSGWSSQPFCEEKRCSPPYILNGIYTPHRIIHRSDDEIRYECNYGFYPVTGSTVSKCTPTGWIPVPRCTLKPCEFPQFKYGRLYYEESLRPNFPVSIGNKYSYKCDNGFSPPSGYSWDYLRCTAQGWEPEVPCVRKCVFHYVENGDSAYWEKVYVQGQSLKVQCYNGYSLQNGQDTMTCTENGWSPPPKCIRIKTCSASDIHIDNGFLSESSSIYALNRETSYRCKQGYVTNTGEISGSITCLQNGWSPQPSCIKSCDMPVFENSITKNTRTWFKLNDKLDYECLVGFENEYKHTKGSITCTYYGWSDTPSCYAGQVASCAPPLEILNGEINGAKKVEYSHGEVVKYDCKPRFLLKGPNKIQCVDGNWTTLPVCIEEERTCGDIPELEHGSAKCSVPPYHHGDSVEFICEENFTMIGHGSVSCISGKWTQLPKCVATDQLEKCRVLKSTGIEAIKPKLTEFTHNSTMDYKCRDKQEYERSICINGKWDPEPNCTSKTSCPPPPQIPNTQVIETTVKYLDGEKLSVLCQDNYLTQDSEEMVCKDGRWQSLPRCIEKIPCSQPPTIEHGSINLPRSSEERRDSIESSSHEHGTTFSYVCDDGFRIPEENRITCYMGKWSTPPRCVGLPCGPPPSIPLGTVSLELESYQHGEEVTYHCSTGFGIDGPAFIICEGGKWSDPPKCIKTDCDVLPTVKNAIIRGKSKKSYRTGEQVTFRCQSPYQMNGSDTVTCVNSRWIGQPVCKDNSCVDPPHVPNATIVTRTKNKYLHGDRVRYECNKPLELFGQVEVMCENGIWTEKPKCRDSTGKCGPPPPIDNGDITSLSLPVYEPLSSVEYQCQKYYLLKGKKTITCRNGKWSEPPTCLHACVIPENIMESHNIILKWRHTEKIYSHSGEDIEFGCKYGYYKARDSPPFRTKCINGTINYPTCV", "length": 1195, "header": "tr|E9Q8H9-1|E9Q8H9_MOUSE Computationally mapped isoform of Complement component factor h OS=Mus musculus OX=10090 GN=Cfh PE=1 SV=2 CANONICAL=P06909-1" }, "locus": { "chromosome": "1", "start_pos": 140111014, "end_pos": 140014067, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000111977.8", "url": "https://www.ensembl.org/id/ENSMUST00000111977.8" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000107608.3", "url": "https://www.ensembl.org/id/ENSMUSP00000107608.3" } ] } }, { "isoform_ac": "E9Q8I0-1", "url": "", "sequence": { "sequence": "MVQHRFLLESVGPRKIQIMRLSARIIWLILWTVCAAEDCKGPPPRENSEILSGSWSEQLYPEGTQATYKCRPGYRTLGTIVKVCKNGKWVASNPSRICRKKPCGHPGDTPFGSFRLAVGSQFEFGAKVVYTCDDGYQLLGEIDYRECGADGWINDIPLCEVVKCLPVTELENGRIVSGAAETDQEYYFGQVVRFECNSGFKIEGHKEIHCSENGLWSNEKPRCVEILCTPPRVENGDGINVKPVYKENERYHYKCKHGYVPKERGDAVCTGSGWSSQPFCEEKRCSPPYILNGIYTPHRIIHRSDDEIRYECNYGFYPVTGSTVSKCTPTGWIPVPRCTLKPCEFPQFKYGRLYYEESLRPNFPVSIGNKYSYKCDNGFSPPSGYSWDYLRCTAQGWEPEVPCVRKCVFHYVENGDSAYWEKVYVQGQSLKVQCYNGYSLQNGQDTMTCTENGWSPPPKCIRIKTCSASDIHIDNGFLSESSSIYALNRETSYRCKQGYVTNTGEISGSITCLQNGWSPQPSCIKSCDMPVFENSITKNTRTWFKLNDKLDYECLVGFENEYKHTKGSITCTYYGWSDTPSCYERECSVPTLDRKLVVSPRKEKYRVGDLLEFSCHSGHRVGPDSVQCYHFGWSPGFPTCKGQVASCAPPLEILNGEINGAKKVEYSHGEVVKYDCKPRFLLKGPNKIQCVDGNWTTLPVCIEEERTCGDIPELEHGSAKCSVPPYHHGDSVEFICEENFTMIGHGSVSCISGKWTQLPKCVATDQLEKCRVLKSTGIEAIKPKLTEFTHNSTMDYKCRDKQEYERSICINGKWDPEPNCTSKTSCPPPPQIPNTQVIETTVKYLDGEKLSVLCQDNYLTQDSEEMVCKDGRWQSLPRCIEKIPCSQPPTIEHGSINLPRSSEERRDSIESSSHEHGTTFSYVCDDGFRIPEENRITCYMGKWSTPPRCVGLPCGPPPSIPLGTVSLELESYQHGEEVTYHCSTGFGIDGPAFIICEGGKWSDPPKCIKTDCDVLPTVKNAIIRGKSKKSYRTGEQVTFRCQSPYQMNGSDTVTCVNSRWIGQPVCKDNSCVDPPHVPNATIVTRTKNKYLHGDRVRYECNKPLELFGQVEVMCENGIWTEKPKCRDSTGKCGPPPPIDNGDITSLSLPVYEPLSSVEYQCQKYYLLKGKKTITCRNGKWSEPPTCLHACVIPENIMESHNIILKWRHTEKIYSHSGEDIEFGCKYGYYKARDSPPFRTKCINGTINYPTCV", "length": 1252, "header": "tr|E9Q8I0-1|E9Q8I0_MOUSE Computationally mapped isoform of Complement component factor h OS=Mus musculus OX=10090 GN=Cfh PE=1 SV=1 CANONICAL=P06909-1" }, "locus": { "chromosome": "1", "start_pos": 140111014, "end_pos": 140014067, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000111976.9", "url": "https://www.ensembl.org/id/ENSMUST00000111976.9" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000107607.3", "url": "https://www.ensembl.org/id/ENSMUSP00000107607.3" } ] } }, { "isoform_ac": "P06909-1", "url": "", "sequence": { "sequence": "MRLSARIIWLILWTVCAAEDCKGPPPRENSEILSGSWSEQLYPEGTQATYKCRPGYRTLGTIVKVCKNGKWVASNPSRICRKKPCGHPGDTPFGSFRLAVGSQFEFGAKVVYTCDDGYQLLGEIDYRECGADGWINDIPLCEVVKCLPVTELENGRIVSGAAETDQEYYFGQVVRFECNSGFKIEGHKEIHCSENGLWSNEKPRCVEILCTPPRVENGDGINVKPVYKENERYHYKCKHGYVPKERGDAVCTGSGWSSQPFCEEKRCSPPYILNGIYTPHRIIHRSDDEIRYECNYGFYPVTGSTVSKCTPTGWIPVPRCTLKPCEFPQFKYGRLYYEESLRPNFPVSIGNKYSYKCDNGFSPPSGYSWDYLRCTAQGWEPEVPCVRKCVFHYVENGDSAYWEKVYVQGQSLKVQCYNGYSLQNGQDTMTCTENGWSPPPKCIRIKTCSASDIHIDNGFLSESSSIYALNRETSYRCKQGYVTNTGEISGSITCLQNGWSPQPSCIKSCDMPVFENSITKNTRTWFKLNDKLDYECLVGFENEYKHTKGSITCTYYGWSDTPSCYERECSVPTLDRKLVVSPRKEKYRVGDLLEFSCHSGHRVGPDSVQCYHFGWSPGFPTCKGQVASCAPPLEILNGEINGAKKVEYSHGEVVKYDCKPRFLLKGPNKIQCVDGNWTTLPVCIEEERTCGDIPELEHGSAKCSVPPYHHGDSVEFICEENFTMIGHGSVSCISGKWTQLPKCVATDQLEKCRVLKSTGIEAIKPKLTEFTHNSTMDYKCRDKQEYERSICINGKWDPEPNCTSKTSCPPPPQIPNTQVIETTVKYLDGEKLSVLCQDNYLTQDSEEMVCKDGRWQSLPRCIEKIPCSQPPTIEHGSINLPRSSEERRDSIESSSHEHGTTFSYVCDDGFRIPEENRITCYMGKWSTPPRCVGLPCGPPPSIPLGTVSLELESYQHGEEVTYHCSTGFGIDGPAFIICEGGKWSDPPKCIKTDCDVLPTVKNAIIRGKSKKSYRTGEQVTFRCQSPYQMNGSDTVTCVNSRWIGQPVCKDNSCVDPPHVPNATIVTRTKNKYLHGDRVRYECNKPLELFGQVEVMCENGIWTEKPKCRDSTGKCGPPPPIDNGDITSLSLPVYEPLSSVEYQCQKYYLLKGKKTITCRNGKWSEPPTCLHACVIPENIMESHNIILKWRHTEKIYSHSGEDIEFGCKYGYYKARDSPPFRTKCINGTINYPTCV", "length": 1234, "header": "sp|P06909-1|CFAH_MOUSE Isoform 1 of Complement factor H OS=Mus musculus OX=10090 GN=Cfh PE=1 SV=2 CANONICAL=P06909-1" }, "locus": { "chromosome": "1", "start_pos": 140110960, "end_pos": 140014067, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000066859", "url": "https://www.ensembl.org/id/ENSMUST00000066859" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000066677", "url": "https://www.ensembl.org/id/ENSMUSP00000066677" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1030, "start_aa": "Asn", "end_pos": 1030, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1030", "evidence": [ { "id": "P06909", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06909#ptm_processing" }, { "id": "17330941", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17330941" } ] }, { "glytoucan_ac": "G15488CF", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1061, "start_aa": "Asn", "end_pos": 1061, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1061", "evidence": [ { "id": "817", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/817" }, { "id": "20571061", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20571061" } ] }, { "glytoucan_ac": "G15569GG", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1061, "start_aa": "Asn", "end_pos": 1061, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1061", "evidence": [ { "id": "817", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/817" }, { "id": "20571061", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20571061" } ] }, { "glytoucan_ac": "G39397SW", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1061, "start_aa": "Asn", "end_pos": 1061, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1061", "evidence": [ { "id": "817", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/817" }, { "id": "20571061", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20571061" } ] }, { "glytoucan_ac": "G40608DF", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1061, "start_aa": "Asn", "end_pos": 1061, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1061", "evidence": [ { "id": "817", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/817" }, { "id": "20571061", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20571061" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1061, "start_aa": "Asn", "end_pos": 1061, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1061", "evidence": [ { "id": "P06909", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06909#ptm_processing" }, { "id": "17330941", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17330941" }, { "id": "16944957", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16944957" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1225, "start_aa": "Asn", "end_pos": 1225, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1225", "evidence": [ { "id": "P06909", "database": 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N-glycosylation events by diagonal chromatography.", "journal": "Journal of proteome research", "date": "2006", "authors": "Ghesquiere B, Van Damme J, Martens L, Vandekerckhove J, Gevaert K", "evidence": [ { "database": "UniProtKB", "id": "P06909", "url": "https://www.uniprot.org/uniprot/P06909#ptm_processing" }, { "database": "UniProtKB", "id": "P06909", "url": "https://www.uniprot.org/uniprot/P06909" } ], "reference": [ { "type": "PubMed", "id": "16944957", "url": "https://glygen.org/publication/PubMed/16944957" } ] }, { "title": "Large-scale phosphorylation analysis of mouse liver.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Villen J, Beausoleil SA, Gerber SA, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "P06909", "url": "https://www.uniprot.org/uniprot/P06909" }, { "database": "UniProtKB", "id": "A0A0A6YWP4", "url": "https://www.uniprot.org/uniprot/A0A0A6YWP4" }, { "database": "UniProtKB", 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Immunol.", "date": "1990", "authors": "Nonaka M., Moriwaki K., Natsuume-Sakai S., Harada Y.N., Nonaka M.', Shreffler D.C.", "evidence": [ { "database": "UniProtKB", "id": "P06909", "url": "https://www.uniprot.org/uniprot/P06909" } ], "reference": [ { "type": "PubMed", "id": "2136885", "url": "https://glygen.org/publication/PubMed/2136885" } ] }, { "title": "Design and evaluation of meningococcal vaccines through structure-based modification of host and pathogen molecules.", "journal": "PLoS Pathog.", "date": "2012", "authors": "Johnson S., Tan L., Lea S.M., Bai X., Jones R., Ward P.N., Staunton D., Pickering M.C., Tang C.M., Borrow R., Caesar J., Cumber E., Exley R.M., Goicoechea De Jorge E., Harding R.J., Newham L., Ruivo N., Trivedi K., Ufret-Vincenty R., van der Veen S.", "evidence": [ { "database": "UniProtKB", "id": "P06909", "url": "https://www.uniprot.org/uniprot/P06909" } ], "reference": [ { "type": "PubMed", "id": "23133374", "url": "https://glygen.org/publication/PubMed/23133374" } ] }, { "title": "Analysis of complement factor H mRNA expression: dexamethasone and IFN-gamma increase the level of H in L cells.", "journal": "Biochemistry", "date": "1989", "authors": "Tack B.F., Vik D.P., Munoz-Canoves P.", "evidence": [ { "database": "UniProtKB", "id": "P06909", "url": "https://www.uniprot.org/uniprot/P06909" } ], "reference": [ { "type": "PubMed", "id": "2533512", "url": "https://glygen.org/publication/PubMed/2533512" } ] }, { "title": "Murine protein H is comprised of 20 repeating units, 61 amino acids in length.", "journal": "Proc. 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U.S.A.", "date": "1986", "authors": "Kristensen T., Tack B.F.", "evidence": [ { "database": "UniProtKB", "id": "P06909", "url": "https://www.uniprot.org/uniprot/P06909" } ], "reference": [ { "type": "PubMed", "id": "2940596", "url": "https://glygen.org/publication/PubMed/2940596" } ] }, { "title": "Absence of complement factor H alters bone architecture and dynamics.", "journal": "Immunobiology", "date": "2018", "authors": "Alexander JJ, Sankaran JS, Seldeen KL, Thiyagarajan R, Jacob A, Quigg RJ, Troen BR, Judex S", "evidence": [ { "database": "UniProtKB", "id": "P06909", "url": "https://www.uniprot.org/uniprot/P06909" } ], "reference": [ { "type": "PubMed", "id": "30107932", "url": "https://glygen.org/publication/PubMed/30107932" } ] }, { "title": "Local complement factor H protects kidney endothelial cell structure and function.", "journal": "Kidney international", "date": "2021", "authors": "Mahajan S, Jacob A, Kelkar A, Chang A, Mcskimming D, Neelamegham S, Quigg RJ, Alexander JJ", 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Dimitrios, Hendrikx Tim, Takaoka Minoru, Dinh Huy Q, Narzt Marie-Sophie, G\u00f6derle Laura, Ozsv\u00e1r-Kozma M\u00e1ria, Schuster Michael, Fortelny Nikolaus, Hladik Anastasiya, Knapp Sylvia, Gruber Florian, Pickering Matthew C, Bock Christoph, Swirski Filip K, Ley Klaus, Zernecke Alma, Cochain Cl\u00e9ment, Kemper Claudia, Mallat Ziad, Binder Christoph J", "evidence": [ { "database": "RefSeq", "id": "NP_034018", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_034018" } ], "reference": [ { "type": "PubMed", "id": "37499656", "url": "https://glygen.org/publication/PubMed/37499656" } ] } ], "pathway": [ { "id": "mmu:12628", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:12628", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "G3V9R2-1", "protein_name": "Complement factor H", "gene_name": "Cfh", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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