{ "uniprot_canonical_ac": "P05156-1", "uniprot_ac": "P05156", "uniprot_id": "CFAI_HUMAN", "mass": { "chemical_mass": 65750.0, "monoisotopic_mass": 65750.0 }, "refseq": { "ac": "NP_000195", "name": "complement factor I isoform 2 preproprotein", "summary": "This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complement components C4b and C3b, and it prevents the assembly of the C3 and C5 convertase enzymes. Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to pyogenic infections. Mutations in this gene have been associated with a predisposition to atypical hemolytic uremic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immune deposits and age-related macular degeneration are other conditions associated with mutations of this gene. [provided by RefSeq, Dec 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000195" }, "gene_names": [ { "name": "CFI", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P05156", "id": "P05156" }, { "name": "AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF; KAF", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000195", "id": "NP_000195" }, { "name": "CFI", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000195", "id": "NP_000195" }, { "name": "IF", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P05156", "id": "P05156" }, { "name": "hCG_21044", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P05156", "id": "P05156" } ], "protein_names": [ { "name": "Complement factor I", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P05156" }, { "name": "3.4.21.45", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05156" }, { "name": "C3B/C4B inactivator", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05156" }, { "name": "C3b-inactivator; Konglutinogen-activating factor; complement factor I heavy chain; complement component I; C3B/C4B inactivator; complement control protein factor I; light chain of factor I", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000195", "id": "NP_000195" }, { "name": "complement factor I isoform 2 preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000195", "id": "NP_000195" } ], "function": [ { "annotation": "A novel method for real-time analysis of the complement C3b:FH:FI complex reveals dominant negative CFI variants in age-related macular degeneration. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000195", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000195" }, { "database": "PubMed", "id": "36643920", "url": "https://glygen.org/publication/PubMed/36643920" } ] }, { "annotation": "CNS Inflammation as the First Sign of Complement Factor I Deficiency.", "evidence": [ { "database": "RefSeq", "id": "NP_000195", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000195" }, { "database": "PubMed", "id": "38134378", "url": "https://glygen.org/publication/PubMed/38134378" } ] }, { "annotation": "Complement factor I: Regulatory nexus, driver of immunopathology, and therapeutic.", "evidence": [ { "database": "RefSeq", "id": "NP_000195", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000195" }, { "database": "PubMed", "id": "37478687", "url": "https://glygen.org/publication/PubMed/37478687" } ] }, { "annotation": "Mutations in atypical hemolytic uremic syndrome provide evidence for the role of calcium in complement factor I.", "evidence": [ { "database": "RefSeq", "id": "NP_000195", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000195" }, { "database": "PubMed", "id": "37363824", "url": "https://glygen.org/publication/PubMed/37363824" } ] }, { "annotation": "These findings demonstrate that rare, highly penetrant mutations in CFI contribute to the genetic burden of age-related macular degeneration.", "evidence": [ { "database": "RefSeq", "id": "NP_000195", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000195" }, { "database": "PubMed", "id": "23685748", "url": "https://glygen.org/publication/PubMed/23685748" } ] }, { "annotation": "This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complement components C4b and C3b, and it prevents the assembly of the C3 and C5 convertase enzymes. Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to pyogenic infections. Mutations in this gene have been associated with a predisposition to atypical hemolytic uremic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immune deposits and age-related macular degeneration are other conditions associated with mutations of this gene. [provided by RefSeq, Dec 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_000195", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000195" } ] }, { "annotation": "Trypsin-like serine protease that plays an essential role in regulating the immune response by controlling all complement pathways. Inhibits these pathways by cleaving three peptide bonds in the alpha-chain of C3b and two bonds in the alpha-chain of C4b thereby inactivating these proteins (PubMed:7360115, PubMed:17320177). Essential cofactors for these reactions include factor H and C4BP in the fluid phase and membrane cofactor protein/CD46 and CR1 on cell surfaces (PubMed:2141838, PubMed:9605165, PubMed:12055245). The presence of these cofactors on healthy cells allows degradation of deposited C3b by CFI in order to prevent undesired complement activation, while in apoptotic cells or microbes, the absence of such cofactors leads to C3b-mediated complement activation and subsequent opsonization (PubMed:28671664).", "evidence": [ { "database": "UniProtKB", "id": "P05156", "url": "https://www.uniprot.org/uniprot/P05156#function" }, { "database": "PubMed", "id": "28671664", "url": "https://glygen.org/publication/PubMed/28671664" }, { "database": "PubMed", "id": "9605165", "url": "https://glygen.org/publication/PubMed/9605165" }, { "database": "PubMed", "id": "12055245", "url": "https://glygen.org/publication/PubMed/12055245" }, { "database": "PubMed", "id": "17320177", "url": "https://glygen.org/publication/PubMed/17320177" }, { "database": "PubMed", "id": "2141838", "url": "https://glygen.org/publication/PubMed/2141838" }, { "database": "PubMed", "id": "7360115", "url": "https://glygen.org/publication/PubMed/7360115" } ] } ], "disease": [ { "disease_id": "DOID:0050419", "recommended_name": { "id": "DOID:0050419", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050419", "name": "complement factor I deficiency", "description": "A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency." }, "synonyms": [ { "id": "DOID:0050419", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050419", "name": "C3 INACTIVATOR DEFICIENCY", "description": "" }, { "id": "DOID:0050419", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050419", "name": "COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY", "description": "" }, { "id": "MONDO:0012594", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012594", "name": "complement factor I deficiency", "description": "" }, { "id": "MONDO:0012594", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012594", "name": "C3 inactivator deficiency", "description": "" }, { "id": "MONDO:0012594", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012594", "name": "complement component 3 inactivator deficiency", "description": "" }, { "id": "MONDO:0012594", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012594", "name": "complement factor I deficiency", "description": "" }, { "id": "MONDO:0012594", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012594", "name": "CFID", "description": "" }, { "id": "MONDO:0012594", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012594", "name": "complement Factor 1 deficiency", "description": "" }, { "id": "MONDO:0012594", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012594", "name": "immunodeficiency with factor I anomaly", "description": "" }, { "id": "MIM:610984", "resource": "MIM", "url": "https://www.omim.org/entry/610984", "name": "Complement factor I deficiency", "description": "Complement factor I deficiency" } ], "evidence": [ { "id": "610984", "database": "MIM", "url": "https://www.omim.org/entry/610984" } ] }, { "disease_id": "DOID:0110025", "recommended_name": { "id": "DOID:0110025", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110025", "name": "age related macular degeneration 13", "description": "An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25." }, "synonyms": [ { "id": "DOID:0110025", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110025", "name": "ARMD13", "description": "" }, { "id": "MONDO:0014189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014189", "name": "age related macular degeneration 13", "description": "An inherited susceptibility or predisposition to developing age related macular degeneration in which the cause of the disease is a mutation in the CFI gene." }, { "id": "MONDO:0014189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014189", "name": "ARMD13", "description": "" }, { "id": "MONDO:0014189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014189", "name": "CFI age-related macular degeneration", "description": "" }, { "id": "MONDO:0014189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014189", "name": "age related macular degeneration type 13", "description": "" }, { "id": "MONDO:0014189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014189", "name": "age-related macular degeneration caused by mutation in CFI", "description": "" }, { "id": "MONDO:0014189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014189", "name": "macular Degeneration, age-related, type 13", "description": "" }, { "id": "MONDO:0014189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014189", "name": "macular degeneration, age-related, 13, susceptibility to", "description": "" }, { "id": "MONDO:0014189", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014189", "name": "macular degeneration, age-related, 13", "description": "" }, { "id": "MIM:615439", "resource": "MIM", "url": "https://www.omim.org/entry/615439", "name": "Macular degeneration, age-related, 13", "description": "Macular degeneration, age-related, 13" } ], "evidence": [ { "id": "615439", "database": "MIM", "url": "https://www.omim.org/entry/615439" } ] }, { "disease_id": "MONDO:0013041", "recommended_name": { "id": "MONDO:0013041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013041", "name": "atypical hemolytic-uremic syndrome with I factor anomaly", "description": "" }, "synonyms": [ { "id": "MONDO:0013041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013041", "name": "D-HUS with I factor anomaly", "description": "" }, { "id": "MONDO:0013041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013041", "name": "aHUS with I factor anomaly", "description": "" }, { "id": "MONDO:0013041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013041", "name": "atypical HUS with I factor anomaly", "description": "" }, { "id": "MONDO:0013041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013041", "name": "hemolytic uremic syndrome, atypical, susceptibility to, type 3", "description": "" }, { "id": "MONDO:0013041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013041", "name": "hemolytic-uremic syndrome without diarrhea with I factor anomaly", "description": "" }, { "id": "MONDO:0013041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013041", "name": "hemolytic-uremic syndrome without diarrhoea with I factor anomaly", "description": "" }, { "id": "MONDO:0013041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013041", "name": "AHUS3", "description": "" }, { "id": "MONDO:0013041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013041", "name": "aHUS, susceptibility to, 3", "description": "" }, { "id": "MONDO:0013041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013041", "name": "aHUS3", "description": "" }, { "id": "MONDO:0013041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013041", "name": "hemolytic uremic syndrome, atypical, susceptibility to, 3", "description": "" }, { "id": "MONDO:0013041", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013041", "name": "susceptibility to atypical hemolytic uremic syndrome 3", "description": "" }, { "id": "MIM:612923", "resource": "MIM", "url": "https://www.omim.org/entry/612923", "name": "Hemolytic uremic syndrome atypical 3", "description": "Hemolytic uremic syndrome atypical 3" } ], "evidence": [ { "id": "612923", "database": "MIM", "url": "https://www.omim.org/entry/612923" } ] } ], "snv": [ { "evidence": [ { "id": "rs1316844995", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1316844995" }, { "id": "rs1316844995", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1316844995#frequency_tab" }, { "id": "rs1316844995", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1316844995" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 105, "end_pos": 105, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->NGR).", "chr_id": "4", "chr_pos": "109766568", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T105", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs189153845", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs189153845" }, { "id": "rs189153845", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs189153845" }, { "id": "rs189153845", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs189153845" }, { "id": "rs189153845", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs189153845" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 111, "end_pos": 111, "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KFS->NFS).", "chr_id": "4", "chr_pos": "109764686", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "K111", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs150610189", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150610189" }, { "id": "rs150610189", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150610189" }, { "id": "rs150610189", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs150610189#frequency_tab" }, { "id": "rs150610189", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs150610189" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 113, "end_pos": 113, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SVS->NVS).", "chr_id": "4", "chr_pos": "109764681", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S113", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1357120518", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1357120518" }, { "id": "rs1357120518", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1357120518" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 144, "end_pos": 144, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SWS->NWS).", "chr_id": "4", "chr_pos": "109764588", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S144", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778279488", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778279488" }, { "id": "rs778279488", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778279488" }, { "id": "rs778279488", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778279488" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 173, "end_pos": 173, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DLS->NLS).", "chr_id": "4", "chr_pos": "109761658", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D173", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753060374", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753060374" }, { "id": "rs753060374", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753060374" }, { "id": "rs753060374", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753060374#frequency_tab" }, { "id": "rs753060374", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753060374" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 177, "end_pos": 177, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->IST).", "chr_id": "4", "chr_pos": "109761645", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N177", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs71603044", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs71603044" }, { "id": "rs71603044", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs71603044" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 178, "end_pos": 178, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->NPT).", "chr_id": "4", "chr_pos": "109761643", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S178", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1309017956", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1309017956" }, { "id": "rs1309017956", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1309017956" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 19, "end_pos": 19, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KVT->NVT).", "chr_id": "4", "chr_pos": "109801915", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K19", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1288059179", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1288059179" }, { "id": "rs1288059179", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1288059179" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 247, "end_pos": 247, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDC->NDS).", "chr_id": "4", "chr_pos": "109760555", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C247", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P05156", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05156" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 306, "end_pos": 306, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (ILT->NLT).", "chr_id": "4", "chr_pos": "109752491", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "I306", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": 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"MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", 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"id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P05156", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05156" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P05156", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05156" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P05156", "url": "https://www.uniprot.org/uniprot/P05156" } ], "common_name": "Human" } ], "gene": [ { "name": "CFI", "url": "https://www.uniprot.org/uniprot/P05156", "locus": { "chromosome": "4", "start_pos": 109731008, "end_pos": 109802150, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000205403", "url": "https://www.ensembl.org/id/ENSG00000205403" } ] } } ], "crossref": [ { "id": "ENSG00000205403", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000205403", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P05156", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05156", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "3.4.21.45", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=3.4.21.45&UniProtAcc=P05156", "database": 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"http://pfam.xfam.org/family/PF21286", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF21287", "url": "http://pfam.xfam.org/family/PF21287", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P05156", "url": "https://pharos.nih.gov/targets/P05156", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000053506", "url": "https://proconsortium.org/app/entry/PR:000053506", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000053507", "url": "https://proconsortium.org/app/entry/PR:000053507", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000053508", "url": "https://proconsortium.org/app/entry/PR:000053508", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000053509", "url": "https://proconsortium.org/app/entry/PR:000053509", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000053510", "url": "https://proconsortium.org/app/entry/PR:000053510", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000053511", "url": "https://proconsortium.org/app/entry/PR:000053511", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000053512", "url": "https://proconsortium.org/app/entry/PR:000053512", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000053513", "url": "https://proconsortium.org/app/entry/PR:000053513", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000053514", "url": "https://proconsortium.org/app/entry/PR:000053514", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000053515", "url": "https://proconsortium.org/app/entry/PR:000053515", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000053516", "url": "https://proconsortium.org/app/entry/PR:000053516", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000053517", "url": "https://proconsortium.org/app/entry/PR:000053517", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000053518", "url": "https://proconsortium.org/app/entry/PR:000053518", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000053519", "url": "https://proconsortium.org/app/entry/PR:000053519", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000053520", "url": "https://proconsortium.org/app/entry/PR:000053520", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000053521", "url": "https://proconsortium.org/app/entry/PR:000053521", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_P05156", "url": "http://purl.obolibrary.org/obo/PR_P05156", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000195", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000195", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P05156", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "D6R9Z8", "url": "https://www.uniprot.org/uniprot/D6R9Z8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6R9Z8-1", "url": "https://www.uniprot.org/uniprot/D6R9Z8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7ETH0", "url": "https://www.uniprot.org/uniprot/E7ETH0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7ETH0-1", "url": "https://www.uniprot.org/uniprot/E7ETH0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3XAM2", "url": "https://www.uniprot.org/uniprot/G3XAM2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3XAM2-1", "url": "https://www.uniprot.org/uniprot/G3XAM2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P05156", "url": "https://www.uniprot.org/uniprot/P05156", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P05156-1", "url": "https://www.uniprot.org/uniprot/P05156-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MKLLHVFLLFLCFHLRFCKVTYTSQEDLVEKKCLAKKYTHLSCDKVFCQPWQRCIEGTCVCKLPYQCPKNGTAVCATNRRSFPTYCQQKSLECLHPGTKFLNNGTCTAEGKFSVSLKHGNTDSEGIVEVKLVDQDKTMFICKSSWSMREANVACLDLGFQQGADTQRRFKLSDLSINSTECLHVHCRGLETSLAECTFTKRRTMGYQDFADVVCYTQKADSPMDDFFQCVNGKYISQMKACDGINDCGDQSDELCCKACQGKGFHCKSGVCIPSQYQCNGEVDCITGEDEVGCAGFASVTQEETEILTADMDAERRRIKSLLPKLSCGVKNRMHIRRKRIVGGKRAQLGDLPWQVAIKDASGITCGGIYIGGCWILTAAHCLRASKTHRYQIWTTVVDWIHPDLKRIVIEYVDRIIFHENYNAGTYQNDIALIEMKKDGNKKDCELPRSIPACVPWSPYLFQPNDTCIVSGWGREKDNERVFSLQWGEVKLISNCSKFYGNRFYEKEMECAGTYDGSIDACKGDSGGPLVCMDANNVTYVWGVVSWGENCGKPEFPGVYTKVANYFDWISYHVGRPFISQYNV", "length": 583, "header": "sp|P05156-1|CFAI_HUMAN Isoform 1 of Complement factor I OS=Homo sapiens OX=9606 GN=CFI PE=1 SV=2 CANONICAL=P05156-1" }, "isoforms": [ { "isoform_ac": "D6R9Z8-1", "url": "", "sequence": { "sequence": "MKLLHVFLLFLCFHLRFCKVTYTSQEDLVEKKCLAKKYTHLSCDKVFCQPWQRCIEGTCVCKLPYQCPKNGTAVCATNRRSFPTYCQQKSLECLHPGTKFLNNGTCTAEGKFSVSLKHGNTDSEGIVEVKLVDQDKTMFICKSSWSMREANVACLDLGFQQ", "length": 161, "header": "tr|D6R9Z8-1|CFAI_HUMAN Computationally mapped isoform of Complement factor I OS=Homo sapiens OX=9606 GN=CFI PE=1 SV=1 CANONICAL=P05156-1" }, "locus": { "chromosome": "4", "start_pos": 109801971, "end_pos": 109764536, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000510800.1", "url": "https://www.ensembl.org/id/ENST00000510800.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000422009.1", "url": "https://www.ensembl.org/id/ENSP00000422009.1" } ] } }, { "isoform_ac": "E7ETH0-1", "url": "", "sequence": { "sequence": "MKLLHVFLLFLCFHLRFCKVTYTSQEDLVEKKCLAKKYTHLSCDKVFCQPWQRCIEGTCVCKLPYQCPKNGTAVCATNRRSFPTYCQQKSLECLHPGTKFLNNGTCTAEGKFSVSLKHGNTDSEGIVEVKLVDQDKTMFICKSSWSMREANVACLDLGFQQGADTQRRFKLSDLSINSTECLHVHCRGLETSLAECTFTKRRTMGYQDFADVVCYTQKADSPMDDFFQCVNGKYISQMKACDGINDCGDQSDELCCKACQGKGFHCKSGVCIPSQYQCNGEVDCITGEDEVGCAAARHPTIQGFASVTQEETEILTADMDAERRRIKSLLPKLSCGVKNRMHIRRKRIVGGKRAQLGDLPWQVAIKDASGITCGGIYIGGCWILTAAHCLRASKTHRYQIWTTVVDWIHPDLKRIVIEYVDRIIFHENYNAGTYQNDIALIEMKKDGNKKDCELPRSIPACVPWSPYLFQPNDTCIVSGWGREKDNERVFSLQWGEVKLISNCSKFYGNRFYEKEMECAGTYDGSIDACKGDSGGPLVCMDANNVTYVWGVVSWGENCGKPEFPGVYTKVANYFDWISYHVGRPFISQYNV", "length": 591, "header": "tr|E7ETH0-1|E7ETH0_HUMAN Computationally mapped isoform of Complement factor I OS=Homo sapiens OX=9606 GN=CFI PE=1 SV=1 CANONICAL=P05156-1" }, "locus": { "chromosome": "4", "start_pos": 109801971, "end_pos": 109740896, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000394635.8", "url": "https://www.ensembl.org/id/ENST00000394635.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000378131.3", "url": "https://www.ensembl.org/id/ENSP00000378131.3" } ] } }, { "isoform_ac": "G3XAM2-1", "url": "", "sequence": { "sequence": "MKLLHVFLLFLCFHLRFCKVTYTSQEDLVEKKCLAKKYTHLSCDKVFCQPWQRCIEGTCVCKLPYQCPKNGTAVCATNRRSFPTYCQQKSLECLHPGTKFLNNGTCTAEGKFSVSLKHGNTDSEGIVEVKLVDQDKTMFICKSSWSMREANVACLDLGFQQGADTQRRFKLSDLSINSTECLHVHCRGLETSLAECTFTKRRTMGYQDFADVVCYTQKADSPMDDFFQCVNGKYISQMKACDGINDCGDQSDELCCKACQGKGFHCKSGVCIPSQYQCNGEVDCITGEDEVGCAEETEILTADMDAERRRIKSLLPKLSCGVKNRMHIRRKRIVGGKRAQLGDLPWQVAIKDASGITCGGIYIGGCWILTAAHCLRASKTHRYQIWTTVVDWIHPDLKRIVIEYVDRIIFHENYNAGTYQNDIALIEMKKDGNKKDCELPRSIPACVPWSPYLFQPNDTCIVSGWGREKDNERVFSLQWGEVKLISNCSKFYGNRFYEKEMECAGTYDGSIDACKGDSGGPLVCMDANNVTYVWGVVSWGENCGKPEFPGVYTKVANYFDWISYHVGRPFISQYNV", "length": 576, "header": "tr|G3XAM2-1|CFAI_HUMAN Computationally mapped isoform of Complement factor I OS=Homo sapiens OX=9606 GN=CFI PE=1 SV=1 CANONICAL=P05156-1" }, "locus": { "chromosome": "4", "start_pos": 109801971, "end_pos": 109740896, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000512148.5", "url": "https://www.ensembl.org/id/ENST00000512148.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000427438.1", "url": "https://www.ensembl.org/id/ENSP00000427438.1" } ] } }, { "isoform_ac": "P05156-1", "url": "", "sequence": { "sequence": "MKLLHVFLLFLCFHLRFCKVTYTSQEDLVEKKCLAKKYTHLSCDKVFCQPWQRCIEGTCVCKLPYQCPKNGTAVCATNRRSFPTYCQQKSLECLHPGTKFLNNGTCTAEGKFSVSLKHGNTDSEGIVEVKLVDQDKTMFICKSSWSMREANVACLDLGFQQGADTQRRFKLSDLSINSTECLHVHCRGLETSLAECTFTKRRTMGYQDFADVVCYTQKADSPMDDFFQCVNGKYISQMKACDGINDCGDQSDELCCKACQGKGFHCKSGVCIPSQYQCNGEVDCITGEDEVGCAGFASVTQEETEILTADMDAERRRIKSLLPKLSCGVKNRMHIRRKRIVGGKRAQLGDLPWQVAIKDASGITCGGIYIGGCWILTAAHCLRASKTHRYQIWTTVVDWIHPDLKRIVIEYVDRIIFHENYNAGTYQNDIALIEMKKDGNKKDCELPRSIPACVPWSPYLFQPNDTCIVSGWGREKDNERVFSLQWGEVKLISNCSKFYGNRFYEKEMECAGTYDGSIDACKGDSGGPLVCMDANNVTYVWGVVSWGENCGKPEFPGVYTKVANYFDWISYHVGRPFISQYNV", "length": 583, "header": "sp|P05156-1|CFAI_HUMAN Isoform 1 of 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"journal": "The Journal of biological chemistry", "date": "2005", "authors": "Huang Y, Smith CA, Song H, Morgan BP, Abagyan R, Tomlinson S", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "16079145", "url": "https://glygen.org/publication/PubMed/16079145" } ] }, { "title": "Binding of complement factor H to endothelial cells is mediated by the carboxy-terminal glycosaminoglycan binding site.", "journal": "The American journal of pathology", "date": "2005", "authors": "Jokiranta TS, Cheng ZZ, Seeberger H, Jozsi M, Heinen S, Noris M, Remuzzi G, Ormsby R, Gordon DL, Meri S, Hellwage J, Zipfel PF", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "16192651", "url": "https://glygen.org/publication/PubMed/16192651" } ] }, { "title": "Human plasma 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I.", "journal": "Blood", "date": "2023-08-10", "authors": "Java Anuja, Atkinson John, Hu Zheng, Pozzi Nicola", "evidence": [ { "database": "RefSeq", "id": "NP_000195", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000195" } ], "reference": [ { "type": "PubMed", "id": "37363824", "url": "https://glygen.org/publication/PubMed/37363824" } ] }, { "title": "Complement factor I: Regulatory nexus, driver of immunopathology, and therapeutic.", "journal": "Immunobiology", "date": "2023-09", "authors": "Hallam T M, Sharp S J, Andreadi A, Kavanagh D", "evidence": [ { "database": "RefSeq", "id": "NP_000195", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000195" } ], "reference": [ { "type": "PubMed", "id": "37478687", "url": "https://glygen.org/publication/PubMed/37478687" } ] }, { "title": "CNS Inflammation as the First Sign of Complement Factor I Deficiency.", "journal": "Neurology(R) neuroimmunology & neuroinflammation", "date": "2024-03", "authors": "Massey Val\u00e9rie, Nguyen Cam-Tu Emilie, Fran\u00e7ois Tine, De Bruycker Jean Jacques, Bonnefoy Arnaud, Lapeyraque Anne-Laure, Decaluwe H\u00e9l\u00e8ne", "evidence": [ { "database": "RefSeq", "id": "NP_000195", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000195" } ], "reference": [ { "type": "PubMed", "id": "38134378", "url": "https://glygen.org/publication/PubMed/38134378" } ] }, { "title": "C3 nephritic factor protects bound C3bBb from cleavage by factor I and human erythrocytes.", "journal": "Molecular immunology", "date": "1985", "authors": "Mold C, Medof ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "3848661", "url": "https://glygen.org/publication/PubMed/3848661" } ] }, { "title": "Anaphylatoxin inactivator of human plasma: its isolation and characterization as a carboxypeptidase.", "journal": "The Journal of clinical investigation", "date": "1970", "authors": "Bokisch VA, 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I. Requirements for factor H vs CR1 cofactor activity.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1982", "authors": "Ross GD, Lambris JD, Cain JA, Newman SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "6214588", "url": "https://glygen.org/publication/PubMed/6214588" } ] }, { "title": "Kinetic and thermodynamic analysis of the control of C3b by the complement regulatory proteins factors H and I.", "journal": "Biochemistry", "date": "1983", "authors": "Pangburn MK, Muller-Eberhard HJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "6219696", "url": "https://glygen.org/publication/PubMed/6219696" } ] }, { "title": "Visualization of human C4b-binding protein and its complexes with vitamin K-dependent protein S and complement protein C4b.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1983", "authors": "Dahlback B, Smith CA, Muller-Eberhard HJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "6222381", "url": "https://glygen.org/publication/PubMed/6222381" } ] }, { "title": "Identification of a 145,000 Mr membrane protein as the C3d receptor (CR2) of human B lymphocytes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1984", "authors": "Weis JJ, Tedder TF, Fearon DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "6230668", "url": "https://glygen.org/publication/PubMed/6230668" } ] }, { "title": "Inhibition of complement activation on the surface of cells after incorporation of decay-accelerating factor (DAF) into their membranes.", "journal": "The Journal of experimental medicine", "date": "1984", "authors": "Medof ME, Kinoshita T, Nussenzweig V", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "6238120", "url": "https://glygen.org/publication/PubMed/6238120" } ] }, { "title": "Biosynthesis and postsynthetic processing of human C3b/C4b inactivator (factor I) in three hepatoma cell lines.", "journal": "J. Biol. Chem.", "date": "1984", "authors": "Goldberger G, Arnaout M A, Aden D, Kay R, Rits M, Colten H R", "evidence": [ { "database": "UniProtKB", "id": "P05156", "url": "https://www.uniprot.org/uniprot/P05156" } ], "reference": [ { "type": "PubMed", "id": "6327681", "url": "https://glygen.org/publication/PubMed/6327681" } ] }, { "title": "Characterization of the interaction of human C4b-binding protein with physiological ligands.", "journal": "The Journal of biological chemistry", "date": "1984", "authors": "Ziccardi RJ, Dahlback B, Muller-Eberhard HJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "6334079", "url": "https://glygen.org/publication/PubMed/6334079" } ] }, { "title": "Biosynthesis of the complement components and the regulatory proteins of the alternative complement pathway by human peripheral blood monocytes.", "journal": "J. Exp. 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J.", "date": "1997", "authors": "Soames C J, Sim R B", "evidence": [ { "database": "UniProtKB", "id": "P05156", "url": "https://www.uniprot.org/uniprot/P05156" } ], "reference": [ { "type": "PubMed", "id": "9291131", "url": "https://glygen.org/publication/PubMed/9291131" } ] }, { "title": "Cloning and characterization of the promoter for the human complement factor I (C3b/C4b inactivator) gene.", "journal": "Gene", "date": "1998", "authors": "Minta J O, Fung M, Turner S, Eren R, Zemach L, Rits M, Goldberger G", "evidence": [ { "database": "UniProtKB", "id": "P05156", "url": "https://www.uniprot.org/uniprot/P05156" } ], "reference": [ { "type": "PubMed", "id": "9479036", "url": "https://glygen.org/publication/PubMed/9479036" } ] }, { "title": "Interaction of vaccinia virus complement control protein with human complement proteins: factor I-mediated degradation of C3b to iC3b1 inactivates the alternative complement pathway.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", 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"http://www.informatics.jax.org/homology/45923864", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "P05156", "url": "https://www.uniprot.org/uniprot/P05156" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P05156", "url": "https://www.uniprot.org/uniprot/P05156" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P05156", "url": "https://www.uniprot.org/uniprot/P05156" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P05156", "url": "https://www.uniprot.org/uniprot/P05156" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P05156", "url": "https://www.uniprot.org/uniprot/P05156" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P05156", "url": "https://www.uniprot.org/uniprot/P05156" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P05156", "url": "https://www.uniprot.org/uniprot/P05156" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P05156", "url": "https://www.uniprot.org/uniprot/P05156" } ], "pmid": "" }, { "name": "complement activation, classical pathway", "id": "GO:0006958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006958", "evidence": [ { "database": "UniProtKB", "id": "P05156", "url": "https://www.uniprot.org/uniprot/P05156" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "complement factor I N-glycosylated 1 (human)", "definition": "A complement factor I (human) that has been N-glycosylated at the residue equivalent to Asn-103 of the amino acid sequence represented by UniProtKB:P05156-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P05156-1, Asn-103, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053506", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053506" } ] }, { "name": "complement factor I N-glycosylated 2 (human)", "definition": "A complement factor I (human) that has been N-glycosylated at the residue equivalent to Asn-103 of the amino acid sequence represented by UniProtKB:P05156-1, in which the glycan structure is represented by GlyTouCan:G22140GZ. Example: UniProtKB:P05156-1, Asn-103, MOD:00160~GNO:G22140GZ. [PRO:DNx, PMID:19838169]", "evidence": [ { "id": "PR:000053507", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053507" } ] }, { "name": "complement factor I N-glycosylated 3 (human)", "definition": "A complement factor I (human) that has been N-glycosylated at the residue equivalent to Asn-103 of the amino acid sequence represented by UniProtKB:P05156-1, in which the glycan composition is represented by GlyTouCan:G92050GC. Example: UniProtKB:P05156-1, Asn-103, MOD:00160~GNO:G92050GC. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000053508", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053508" } ] }, { "name": "complement factor I N-glycosylated 4 (human)", "definition": "A complement factor I (human) that has been N-glycosylated at the residue equivalent to Asn-177 of the amino acid sequence represented by UniProtKB:P05156-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P05156-1, Asn-177, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053509", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053509" } ] }, { "name": "complement factor I N-glycosylated 5 (human)", "definition": "A complement factor I (human) that has been N-glycosylated at the residue equivalent to Asn-177 of the amino acid sequence represented by UniProtKB:P05156-1, in which the glycan composition is represented by GlyTouCan:G06247RL. Example: UniProtKB:P05156-1, Asn-177, MOD:00160~GNO:G06247RL. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053510", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053510" } ] }, { "name": "complement factor I N-glycosylated 6 (human)", "definition": "A complement factor I (human) that has been N-glycosylated at the residue equivalent to Asn-177 of the amino acid sequence represented by UniProtKB:P05156-1, in which the glycan composition is represented by GlyTouCan:G08293MJ. Example: UniProtKB:P05156-1, Asn-177, MOD:00160~GNO:G08293MJ. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053511", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053511" } ] }, { "name": "complement factor I N-glycosylated 7 (human)", "definition": "A complement factor I (human) that has been N-glycosylated at the residue equivalent to Asn-177 of the amino acid sequence represented by UniProtKB:P05156-1, in which the glycan composition is represented by GlyTouCan:G10486CT. Example: UniProtKB:P05156-1, Asn-177, MOD:00160~GNO:G10486CT. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053512", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053512" } ] }, { "name": "complement factor I N-glycosylated 8 (human)", "definition": "A complement factor I (human) that has been N-glycosylated at the residue equivalent to Asn-177 of the amino acid sequence represented by UniProtKB:P05156-1, in which the glycan composition is represented by GlyTouCan:G27947YN. Example: UniProtKB:P05156-1, Asn-177, MOD:00160~GNO:G27947YN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053513", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053513" } ] }, { "name": "complement factor I N-glycosylated 9 (human)", "definition": "A complement factor I (human) that has been N-glycosylated at the residue equivalent to Asn-177 of the amino acid sequence represented by UniProtKB:P05156-1, in which the glycan composition is represented by GlyTouCan:G59626AS. Example: UniProtKB:P05156-1, Asn-177, MOD:00160~GNO:G59626AS. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053514", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053514" } ] }, { "name": "complement factor I N-glycosylated 10 (human)", "definition": "A complement factor I (human) that has been N-glycosylated at the residue equivalent to Asn-177 of the amino acid sequence represented by UniProtKB:P05156-1, in which the glycan composition is represented by GlyTouCan:G83555HU. Example: UniProtKB:P05156-1, Asn-177, MOD:00160~GNO:G83555HU. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053515", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053515" } ] }, { "name": "complement factor I N-glycosylated 11 (human)", "definition": "A complement factor I (human) that has been N-glycosylated at the residue equivalent to Asn-177 of the amino acid sequence represented by UniProtKB:P05156-1, in which the glycan composition is represented by GlyTouCan:G85144OK. Example: UniProtKB:P05156-1, Asn-177, MOD:00160~GNO:G85144OK. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053516", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053516" } ] }, { "name": "complement factor I N-glycosylated 12 (human)", "definition": "A complement factor I (human) that has been N-glycosylated at the residue equivalent to Asn-177 of the amino acid sequence represented by UniProtKB:P05156-1, in which the glycan composition is represented by GlyTouCan:G88374WZ. Example: UniProtKB:P05156-1, Asn-177, MOD:00160~GNO:G88374WZ. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053517", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053517" } ] }, { "name": "complement factor I N-glycosylated 13 (human)", "definition": "A complement factor I (human) that has been N-glycosylated at the residue equivalent to Asn-177 of the amino acid sequence represented by UniProtKB:P05156-1, in which the glycan composition is represented by GlyTouCan:G94917XT. Example: UniProtKB:P05156-1, Asn-177, MOD:00160~GNO:G94917XT. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053518", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053518" } ] }, { "name": "complement factor I N-glycosylated 14 (human)", "definition": "A complement factor I (human) that has been N-glycosylated at the residue equivalent to Asn-464 of the amino acid sequence represented by UniProtKB:P05156-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P05156-1, Asn-464, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053519", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053519" } ] }, { "name": "complement factor I N-glycosylated 15 (human)", "definition": "A complement factor I (human) that has been N-glycosylated at the residue equivalent to Asn-494 of the amino acid sequence represented by UniProtKB:P05156-1, in which the glycan composition is represented by GlyTouCan:G41247ZX. Example: UniProtKB:P05156-1, Asn-494, MOD:00160~GNO:G41247ZX. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053520", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053520" } ] }, { "name": "complement factor I N-glycosylated 16 (human)", "definition": "A complement factor I (human) that has been N-glycosylated at the residue equivalent to Asn-494 of the amino acid sequence represented by UniProtKB:P05156-1, in which the glycan composition is represented by GlyTouCan:G80586MF. Example: UniProtKB:P05156-1, Asn-494, MOD:00160~GNO:G80586MF. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000053521", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053521" } ] } ], "site_annotation": [ { "start_pos": 103, "end_pos": 105, "annotation": "n_glycosylation_sequon" }, { "start_pos": 177, "end_pos": 179, "annotation": "n_glycosylation_sequon" }, { "start_pos": 464, "end_pos": 466, "annotation": "n_glycosylation_sequon" }, { "start_pos": 494, "end_pos": 496, "annotation": "n_glycosylation_sequon" }, { "start_pos": 536, "end_pos": 538, "annotation": "n_glycosylation_sequon" }, { "start_pos": 70, "end_pos": 72, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "R-HSA-3266557", "name": "Factor I cleaves iC3b", "equation": "", "summary": "Factor I (CFI) cleaves iC3b into two molecules, C3c, which is released into solution, and C3dg, which remains attached to the membrane. This cleavage requires Complement receptor type 1 (CR1), which serves a cofactor for CFI (Medof et al. 1982).; ; iC3b and C3dg can bind CR2 (CD21) to enhance B-cell immunity (Tuveson et al.1991, Sarrias et al. 2001).", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P05156-1" ], "evidence": [ { "id": "R-HSA-3266557", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3266557" } ] }, { "id": "R-HSA-976743", "name": "Factor I inactivates plasma Factor H-bound C3b", "equation": "", "summary": "Complement factor I (CFI) cleaves the alpha chain of C3b at two positions, generating inactivated C3b (iC3b) and a small fragment C3f, which is released. The majority of the alpha chain is retained as two fragments which are tethered by disulphide bonds. iC3b is proteolytically inactive.", "cellular_location": "extracellular region", "input_participant_list": [], "output_participant_list": [ "R-HSA-976779", "R-HSA-976788" ], "enzyme_list": [ "P05156-1" ], "evidence": [ { "id": "R-HSA-976743", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-976743" } ] }, { "id": "R-HSA-976801", "name": "Complement factor I complex formation", "equation": "", "summary": "Complement factor I (CFI) is a complex of one heavy and one light chain, both cleaved from the same precursor peptide. It inactivates complement subcomponents C3b, iC3b and C4b by proteolytic cleavage of the alpha chains of C4b and C3b in the presence of cofactors such as Factor H, C4b binding protein, Complement receptor 1 (CR1) or MCP (CD46).", "cellular_location": "extracellular region", "input_participant_list": [ "R-HSA-976750", "R-HSA-976782" ], "output_participant_list": [], "enzyme_list": [ "P05156-1" ], "evidence": [ { "id": "R-HSA-976801", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-976801" } ] }, { "id": "R-HSA-976810", "name": "Complement factor I binds to extracellular Factor H:C3b", "equation": "", "summary": "Complement factor I (CFI) binds the factor H:C3b (CFH:C3b) complex.", "cellular_location": "extracellular region", "input_participant_list": [ "R-HSA-976749" ], "output_participant_list": [ "R-HSA-976770" ], "enzyme_list": [ "P05156-1" ], "evidence": [ { "id": "R-HSA-976810", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-976810" } ] }, { "id": "R-HSA-977359", "name": "Complement factor I binds to membrane-associated Factor H:C3b", "equation": "", "summary": "Complement factor I (CFI) binds to the membrane-associated Factor H:C3b complex.", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P05156-1" ], "evidence": [ { "id": "R-HSA-977359", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977359" } ] }, { "id": "R-HSA-977371", "name": "Factor I inactivates Factor H-boundC3b", "equation": "", "summary": "Following the displacement of Bb from C3bBb, Factor I (CFI) cleaves Factor H-bound C3b producing iC3b, which remains bound to the membrane. The majority of the C3b alpha chain is retained as two fragments which are tethered to the beta chain by disulphide bonds. iC3b is proteolytically inactive and cannot contribute to the complement cascade process, though it still contributes to opsonization.", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P05156-1" ], "evidence": [ { "id": "R-HSA-977371", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977371" } ] }, { "id": "R-HSA-977602", "name": "Complement factor I binds to MCP, CR1:C4b, C3b", "equation": "", "summary": "Membrane cofactor protein (MCP, CD46) and Complement Receptor 1 (CR1) act as cofactors for the protease activity of complement factor I (CFI) which binds MCP or CR1 complexes with C3b or C4b, inactivating C3b/C4b.", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P05156-1" ], "evidence": [ { "id": "R-HSA-977602", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977602" } ] }, { "id": "R-HSA-977615", "name": "Factor I inactivates MCP/CR1-bound C4b/C3b", "equation": "", "summary": "Factor I (CFI) cleaves the truncated alpha (a') chain of C4b between Arg-1336 and Asn-1337 and then again between Arg-956 and Thr-957, producing a 16 kDa fragment known as alpha4, derived from the C terminus of the a' chain, followed by a 27 kDa alpha3 fragment. The remaining alpha 2 (C4d) fragment stays covalently bound to the cell membrane while the complex of disulfide-linked alpha3, alpha4, beta chain and gamma chain are released (C4c) into the fluid phase (Fujita et al. 1978).", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P05156-1" ], "evidence": [ { "id": "R-HSA-977615", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977615" } ] }, { "id": "R-HSA-981637", "name": "Complement factor I inactivates C4BP-bound C4b", "equation": "", "summary": "C4b-binding protein is a cofactor in Factor I mediated C4b proteolysis. C4b is cleaved, releasing C4c, leaving C4d bound to the cell surface.", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P05156-1" ], "evidence": [ { "id": "R-HSA-981637", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-981637" } ] }, { "id": "R-HSA-981658", "name": "Complement factor I binds C4BP", "equation": "", "summary": "C4b-binding protein is a cofactor for Complement Factor I (CFI), allowing it to bind and thereby mediating C4b proteolysis.", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P05156-1" ], "evidence": [ { "id": "R-HSA-981658", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-981658" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-976749", "participant_name": "CFI [extracellular region]", "crossref": [ { "id": 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