{ "uniprot_canonical_ac": "P0C0L5-1", "uniprot_ac": "P0C0L5", "uniprot_id": "CO4B_HUMAN", "mass": { "chemical_mass": 192751.0, "monoisotopic_mass": 192751.0 }, "refseq": { "ac": "NP_001002029", "name": "complement C4-B preproprotein", "summary": "This gene encodes the basic form of complement factor 4, and together with the C4A gene, is part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. [provided by RefSeq, May 2020].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002029" }, "gene_names": [ { "name": "C4B_2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P0C0L5", "id": "P0C0L5" }, { "name": "C4B", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P0C0L5", "id": "P0C0L5" }, { "name": "C4B1; C4B12; C4B2; C4B3; C4B5; C4BD; C4B_2; C4F; CH; CO4; CPAMD3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002029", "id": "NP_001002029" }, { "name": "C4B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002029", "id": "NP_001002029" }, { "name": "C4B", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0C0L5", "id": "P0C0L5" }, { "name": "CO4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0C0L5", "id": "P0C0L5" }, { "name": "CPAMD3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0C0L5", "id": "P0C0L5" } ], "protein_names": [ { "name": "Complement C4-B", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P0C0L5" }, { "name": "Basic complement C4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P0C0L5" }, { "name": "C3 and PZP-like alpha-2-macroglobulin domain-containing protein 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P0C0L5" }, { "name": "Chido form of C4; complement C4-B; complement C4B1a; complement C4B (Chido blood group); basic complement C4; C3 and PZP-like alpha-2-macroglobulin domain-containing protein 3; complement component 4B (Chido blood group)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002029", "id": "NP_001002029" }, { "name": "complement C4-B preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002029", "id": "NP_001002029" } ], "function": [ { "annotation": "Cryo-EM structures of Trypanosoma brucei gambiense ISG65 with human complement C3 and C3b and their roles in alternative pathway restriction. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001002029", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002029" }, { "database": "PubMed", "id": "37105991", "url": "https://glygen.org/publication/PubMed/37105991" } ] }, { "annotation": "Derived from proteolytic degradation of complement C4, C4a anaphylatoxin is a mediator of local inflammatory process. It induces the contraction of smooth muscle, increases vascular permeability and causes histamine release from mast cells and basophilic leukocytes.", "evidence": [ { "database": "UniProtKB", "id": "P0C0L5", "url": "https://www.uniprot.org/uniprot/P0C0L5#function" } ] }, { "annotation": "Non-enzymatic component of the C3 and C5 convertases and thus essential for the propagation of the classical complement pathway. Covalently binds to immunoglobulins and immune complexes and enhances the solubilization of immune aggregates and the clearance of IC through CR1 on erythrocytes. C4A isotype is responsible for effective binding to form amide bonds with immune aggregates or protein antigens, while C4B isotype catalyzes the transacylation of the thioester carbonyl group to form ester bonds with carbohydrate antigens.", "evidence": [ { "database": "UniProtKB", "id": "P0C0L5", "url": "https://www.uniprot.org/uniprot/P0C0L5#function" } ] }, { "annotation": "Plasma Complement 3 and Complement 4 Are Promising Biomarkers for Distinguishing NMOSD From MOGAD and Are Associated With the Blood-Brain-Barrier Disruption in NMOSD. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001002029", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002029" }, { "database": "PubMed", "id": "35898513", "url": "https://glygen.org/publication/PubMed/35898513" } ] }, { "annotation": "Serum complement component 3, complement component 4 and complement component 1q levels predict progressive visual field loss in older women with primary angle closure glaucoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001002029", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002029" }, { "database": "PubMed", "id": "35017157", "url": "https://glygen.org/publication/PubMed/35017157" } ] }, { "annotation": "This gene encodes the basic form of complement factor 4, and together with the C4A gene, is part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. [provided by RefSeq, May 2020].", "evidence": [ { "database": "RefSeq", "id": "NP_001002029", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002029" } ] } ], "disease": [ { "disease_id": "DOID:0060298", "recommended_name": { "id": "DOID:0060298", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060298", "name": "complement component 4b deficiency", "description": "A complement deficiency that is characterized by recurrent bacterial infections, caused by C4B deficiency." }, "synonyms": [ { "id": "MONDO:0013720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013720", "name": "complement component 4b deficiency", "description": "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4B gene." }, { "id": "MONDO:0013720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013720", "name": "C4B classic complement early component deficiency", "description": "" }, { "id": "MONDO:0013720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013720", "name": "classic complement early component deficiency caused by mutation in C4B", "description": "" }, { "id": "MONDO:0013720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013720", "name": "complement component 4b deficiency", "description": "" }, { "id": "MONDO:0013720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013720", "name": "C4B deficiency", "description": "" }, { "id": "MONDO:0013720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013720", "name": "C4BD", "description": "" }, { "id": "MONDO:0013720", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013720", "name": "complement component 4B deficiency", "description": "" }, { "id": "MIM:614379", "resource": "MIM", "url": "https://www.omim.org/entry/614379", "name": "Complement component 4B deficiency", "description": "Complement component 4B deficiency" } ], "evidence": [ { "id": "614379", "database": "MIM", "url": "https://www.omim.org/entry/614379" } ] }, { "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": "152700", "database": "MIM", "url": "https://www.omim.org/entry/152700" } ] } ], "snv": [ { "evidence": [ { "id": "rs1415072915", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1415072915" }, { "id": "rs1415072915", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1415072915" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1074, "end_pos": 1074, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SST->NST).", "chr_id": "6", "chr_pos": "32028523", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1074", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1486793598", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1486793598" }, { "id": "rs1486793598", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1486793598" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1114, "end_pos": 1114, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DGS->NGS).", "chr_id": "6", "chr_pos": "32028802", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1114", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P0C0L5", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P0C0L5" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1119, "end_pos": 1119, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DLS->NLS).", "chr_id": "6", "chr_pos": "32028817", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D1119", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1221805709", "database": 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"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": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P0C0L5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C0L5" } ], "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", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { 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{ "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P0C0L5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C0L5" } ], "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": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P0C0L5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C0L5" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P0C0L5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C0L5" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"http://pfam.xfam.org/family/PF07677", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07678", "url": "http://pfam.xfam.org/family/PF07678", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07703", "url": "http://pfam.xfam.org/family/PF07703", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF17789", "url": "http://pfam.xfam.org/family/PF17789", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF17791", "url": "http://pfam.xfam.org/family/PF17791", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF21145", "url": "http://pfam.xfam.org/family/PF21145", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P0C0L5", "url": "https://pharos.nih.gov/targets/P0C0L5", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000054688", "url": "https://proconsortium.org/app/entry/PR:000054688", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054689", "url": "https://proconsortium.org/app/entry/PR:000054689", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054690", "url": "https://proconsortium.org/app/entry/PR:000054690", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054691", "url": "https://proconsortium.org/app/entry/PR:000054691", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054692", "url": "https://proconsortium.org/app/entry/PR:000054692", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054693", "url": "https://proconsortium.org/app/entry/PR:000054693", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054694", "url": "https://proconsortium.org/app/entry/PR:000054694", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_P0C0L5", "url": "http://purl.obolibrary.org/obo/PR_P0C0L5", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-166663", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166663", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-174577", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174577", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001002029", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002029", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P0C0L5", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "A0A0G2JL54", "url": "https://www.uniprot.org/uniprot/A0A0G2JL54", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JL54-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JL54-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140TA29", "url": "https://www.uniprot.org/uniprot/A0A140TA29", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140TA29-1", "url": "https://www.uniprot.org/uniprot/A0A140TA29-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3ISA6", "url": "https://www.uniprot.org/uniprot/A0A3B3ISA6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3ISA6-1", "url": "https://www.uniprot.org/uniprot/A0A3B3ISA6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3ISD7", "url": "https://www.uniprot.org/uniprot/A0A3B3ISD7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3ISD7-1", "url": "https://www.uniprot.org/uniprot/A0A3B3ISD7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GXS0", "url": "https://www.uniprot.org/uniprot/F5GXS0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GXS0-1", "url": "https://www.uniprot.org/uniprot/F5GXS0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P0C0L5", "url": "https://www.uniprot.org/uniprot/P0C0L5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P0C0L5-1", "url": "https://www.uniprot.org/uniprot/P0C0L5-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MRLLWGLIWASSFFTLSLQKPRLLLFSPSVVHLGVPLSVGVQLQDVPRGQVVKGSVFLRNPSRNNVPCSPKVDFTLSSERDFALLSLQVPLKDAKSCGLHQLLRGPEVQLVAHSPWLKDSLSRTTNIQGINLLFSSRRGHLFLQTDQPIYNPGQRVRYRVFALDQKMRPSTDTITVMVENSHGLRVRKKEVYMPSSIFQDDFVIPDISEPGTWKISARFSDGLESNSSTQFEVKKYVLPNFEVKITPGKPYILTVPGHLDEMQLDIQARYIYGKPVQGVAYVRFGLLDEDGKKTFFRGLESQTKLVNGQSHISLSKAEFQDALEKLNMGITDLQGLRLYVAAAIIESPGGEMEEAELTSWYFVSSPFSLDLSKTKRHLVPGAPFLLQALVREMSGSPASGIPVKVSATVSSPGSVPEVQDIQQNTDGSGQVSIPIIIPQTISELQLSVSAGSPHPAIARLTVAAPPSGGPGFLSIERPDSRPPRVGDTLNLNLRAVGSGATFSHYYYMILSRGQIVFMNREPKRTLTSVSVFVDHHLAPSFYFVAFYYHGDHPVANSLRVDVQAGACEGKLELSVDGAKQYRNGESVKLHLETDSLALVALGALDTALYAAGSKSHKPLNMGKVFEAMNSYDLGCGPGGGDSALQVFQAAGLAFSDGDQWTLSRKRLSCPKEKTTRKKRNVNFQKAINEKLGQYASPTAKRCCQDGVTRLPMMRSCEQRAARVQQPDCREPFLSCCQFAESLRKKSRDKGQAGLQRALEILQEEDLIDEDDIPVRSFFPENWLWRVETVDRFQILTLWLPDSLTTWEIHGLSLSKTKGLCVATPVQLRVFREFHLHLRLPMSVRRFEQLELRPVLYNYLDKNLTVSVHVSPVEGLCLAGGGGLAQQVLVPAGSARPVAFSVVPTAATAVSLKVVARGSFEFPVGDAVSKVLQIEKEGAIHREELVYELNPLDHRGRTLEIPGNSDPNMIPDGDFNSYVRVTASDPLDTLGSEGALSPGGVASLLRLPRGCGEQTMIYLAPTLAASRYLDKTEQWSTLPPETKDHAVDLIQKGYMRIQQFRKADGSYAAWLSRGSSTWLTAFVLKVLSLAQEQVGGSPEKLQETSNWLLSQQQADGSFQDLSPVIHRSMQGGLVGNDETVALTAFVTIALHHGLAVFQDEGAEPLKQRVEASISKASSFLGEKASAGLLGAHAAAITAYALTLTKAPADLRGVAHNNLMAMAQETGDNLYWGSVTGSQSNAVSPTPAPRNPSDPMPQAPALWIETTAYALLHLLLHEGKAEMADQAAAWLTRQGSFQGGFRSTQDTVIALDALSAYWIASHTTEERGLNVTLSSTGRNGFKSHALQLNNRQIRGLEEELQFSLGSKINVKVGGNSKGTLKVLRTYNVLDMKNTTCQDLQIEVTVKGHVEYTMEANEDYEDYEYDELPAKDDPDAPLQPVTPLQLFEGRRNRRRREAPKVVEEQESRVHYTVCIWRNGKVGLSGMAIADVTLLSGFHALRADLEKLTSLSDRYVSHFETEGPHVLLYFDSVPTSRECVGFEAVQEVPVGLVQPASATLYDYYNPERRCSVFYGAPSKSRLLATLCSAEVCQCAEGKCPRQRRALERGLQDEDGYRMKFACYYPRVEYGFQVKVLREDSRAAFRLFETKITQVLHFTKDVKAAANQMRNFLVRASCRLRLEPGKEYLIMGLDGATYDLEGHPQYLLDSNSWIEEMPSERLCRSTRQRAACAQLNDFLQEYGTQGCQV", "length": 1744, "header": "sp|P0C0L5-1|CO4B_HUMAN Isoform 1 of Complement C4-B OS=Homo sapiens OX=9606 GN=C4B PE=1 SV=2 CANONICAL=P0C0L5-1" }, "isoforms": [ { "isoform_ac": "A0A0G2JL54-1", "url": "", "sequence": { "sequence": "MRLLWGLIWASSFFTLSLQKPRLLLFSPSVVHLGVPLSVGVQLQDVPRGQVVKGSVFLRNPSRNNVPCSPKVDFTLSSERDFALLSLQVPLKDAKSCGLHQLLRGPEVQLVAHSPWLKDSLSRTTNIQGINLLFSSRRGHLFLQTDQPIYNPGQRVRYRVFALDQKMRPSTDTITVMVENSHGLRVRKKEVYMPSSIFQDDFVIPDISEPGTWKISARFSDGLESNSSTQFEVKKYVLPNFEVKITPGKPYILTVPGHLDEMQLDIQARYIYGKPVQGVAYVRFGLLDEDGKKTFFRGLESQTKLVNGQSHISLSKAEFQDALEKLNMGITDLQGLRLYVAAAIIEYPGGEMEEAELTSWYFVSSPFSLDLSKTKRHLVPGAPFLLQALVREMSGSPASGIPVKVSATVSSPGSVPEVQDIQQNTDGSGQVSIPIIIPQTISELQLSVSAGSPHPAIARLTVAAPPSGGPGFLSIERPDSRPPRVGDTLNLNLRAVGSGATFSHYYYMILSRGQIVFMNREPKRTLTSVSVFVDHHLAPSFYFVAFYYHGDHPVANSLRVDVQAGACEGKLELSVDGAKQYRNGESVKLHLETDSLALVALGALDTALYAAGSKSHKPLNMGKVFEAMNSYDLGCGPGGGDSALQVFQAAGLAFSDGDQWTLSRKRLSCPKEKTTRKKRNVNFQKAINEKLGQYASPTAKRCCQDGVTRLPMMRSCEQRAARVQQPDCREPFLSCCQFAESLRKKSRDKGQAGLQRALEILQEEDLIDEDDIPVRSFFPENWLWRVETVDRFQILTLWLPDSLTTWEIHGLSLSKTKGLCVATPVQLRVFREFHLHLRLPMSVRRFEQLELRPVLYNYLDKNLTVSVHVSPVEGLCLAGGGGLAQQVLVPAGSARPVAFSVVPTAAAAVSLKVVARGSFEFPVGDAVSKVLQIEKEGAIHREELVYELNPLDHRGRTLEIPGNSDPNMIPDGDFNSYVRVTASDPLDTLGSEGALSPGGVASLLRLPRGCGEQTMIYLAPTLAASRYLDKTEQWSTLPPETKDHAVDLIQKGYMRIQQFRKADGSYAAWLSRGSSTWLTAFVLKVLSLAQEQVGGSPEKLQETSNWLLSQQQADGSFQDLSPVIHRSMQGGLVGNDETVALTAFVTIALHHGLAVFQDEGAEPLKQRVEASISKASSFLGEKASAGLLGAHAAAITAYALTLTKAPADLRGVAHNNLMAMAQETGDNLYWGSVTGSQSNAVSPTPAPRNPSDPMPQAPALWIETTAYALLHLLLHEGKAEMADQAAAWLTRQGSFQGGFRSTQDTVIALDALSAYWIASHTTEERGLNVTLSSTGRNGFKSHALQLNNRQIRGLEEELQFSLGSKINVKVGGNSKGTLKVLRTYNVLDMKNTTCQDLQIEVTVKGHVEYTMEANEDYEDYEYDELPAKDDPDAPLQPVTPLQLFEGRRNRRRREAPKLTSLSDRYVSHFETEGPHVLLYFDSVPTSRECVGFEAVQEVPVGLVQPASATLYDYYNPERRCSVFYGAPSKSRLLATLCSAEVCQCAEGKCPRQRRALERGLQDEDGYRMKFACYYPRVEYGFQVKVLREDSRAAFRLFETKITQVLHFTKDVKAAANQMRNFLVRASCRLRLEPGKEYLIMGLDGATYDLEGHPQYLLDSNSWIEEMPSERLCRSTRQRAACAQLNDFLQEYGTQGCQV", "length": 1698, "header": "tr|A0A0G2JL54-1|CO4B_HUMAN Computationally mapped isoform of Complement C4-B OS=Homo sapiens OX=9606 GN=C4B PE=1 SV=1 CANONICAL=P0C0L5-1" }, "locus": { "chromosome": "HSCHR6_MHC_SSTO_CTG1", "start_pos": 3336464, "end_pos": 3316035, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000548301.2", "url": "https://www.ensembl.org/id/ENST00000548301.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000447600.1", "url": "https://www.ensembl.org/id/ENSP00000447600.1" } ] } }, { "isoform_ac": "A0A140TA29-1", "url": "", "sequence": { "sequence": "MRLLWGLIWASSFFTLSLQKPRLLLFSPSVVHLGVPLSVGVQLQDVPRGQVVKGSVFLRNPSRNNVPCSPKVDFTLSSERDFALLSLQVPLKDAKSCGLHQLLRGPEVQLVAHSPWLKDSLSRTTNIQGINLLFSSRRGHLFLQTDQPIYNPGQRVRYRVFALDQKMRPSTDTITVMVENSHGLRVRKKEVYMPSSIFQDDFVIPDISEPGTWKISARFSDGLESNSSTQFEVKKYVLPNFEVKITPGKPYILTVPGHLDEMQLDIQARYIYGKPVQGVAYVRFGLLDEDGKKTFFRGLESQTKLVNGQSHISLSKAEFQDALEKLNMGITDLQGLRLYVAAAIIESPGGEMEEAELTSWYFVSSPFSLDLSKTKRHLVPGAPFLLQALVREMSGSPASGIPVKVSATVSSPGSVPEVQDIQQNTDGSGQVSIPIIIPQTISELQLSVSAGSPHPAIARLTVAAPPSGGPGFLSIERPDSRPPRVGDTLNLNLRAVGSGATFSHYYYMILSRGQIVFMNREPKRTLTSVSVFVDHHLAPSFYFVAFYYHGDHPVANSLRVDVQAGACEGKLELSVDGAKQYRNGESVKLHLETDSLALVALGALDTALYAAGSKSHKPLNMGKVFEAMNSYDLGCGPGGGDSALQVFQAAGLAFSDGDQWTLSRKRLSCPKEKTTRKKRNVNFQKAINEKLGQYASPTAKRCCQDGVTRLPMMRSCEQRAARVQQPDCREPFLSCCQFAESLRKKSRDKGQAGLQRALEILQEEDLIDEDDIPVRSFFPENWLWRVETVDRFQILTLWLPDSLTTWEIHGLSLSKTKGLCVATPVQLRVFREFHLHLRLPMSVRRFEQLELRPVLYNYLDKNLTVSVHVSPVEGLCLAGGGGLAQQVLVPAGSARPVAFSVVPTAAAAVSLKVVARGSFEFPVGDAVSKVLQIEKEGAIHREELVYELNPLDHRGRTLEIPGNSDPNMIPDGDFNSYVRVTASDPLDTLGSEGALSPGGVASLLRLPRGCGEQTMIYLAPTLAASRYLDKTEQWSTLPPETKDHAVDLIQKGYMRIQQFRKADGSYAAWLSRGSSTWLTAFVLKVLSLAQEQVGGSPEKLQETSNWLLSQQQADGSFQDLSPVIHRSMQGGLVGNDETVALTAFVTIALHHGLAVFQDEGAEPLKQRVEASISKANSFLGEKASAGLLGAHAAAITAYALTLTKAPADLRGVAHNNLMAMAQETGDNLYWGSVTGSQSNAVSPTPAPRNPSDPMPQAPALWIETTAYALLHLLLHEGKAEMADQAAAWLTRQGSFQGGFRSTQDTVIALDALSAYWIASHTTEERGLNVTLSSTGRNGFKSHALQLNNRQIRGLEEELQFSLGSKINVKVGGNSKGTLKVLRTYNVLDMKNTTCQDLQIEVTVKGHVEYTMEANEDYEDYEYDELPAKDDPDAPLQPVTPLQLFEGRRNRRRREAPKLTSLSDRYVSHFETEGPHVLLYFDSVPTSRECVGFEAVQEVPVGLVQPASATLYDYYNPERRCSVFYGAPSKSRLLATLCSAEVCQCAEGKCPRQRRALERGLQDEDGYRMKFACYYPRVEYGFQVKVLREDSRAAFRLFETKITQVLHFTKDVKAAANQMRNFLVRASCRLRLEPGKEYLIMGLDGATYDLEGHPQYLLDSNSWIEEMPSERLCRSTRQRAACAQLNDFLQEYGTQGCQV", "length": 1698, "header": "tr|A0A140TA29-1|CO4B_HUMAN Computationally mapped isoform of Complement C4-B OS=Homo sapiens OX=9606 GN=C4B PE=1 SV=1 CANONICAL=P0C0L5-1" }, "locus": { "chromosome": "HSCHR6_MHC_DBB_CTG1", "start_pos": 3276682, "end_pos": 3262621, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000546399.2", "url": "https://www.ensembl.org/id/ENST00000546399.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000446528.1", "url": "https://www.ensembl.org/id/ENSP00000446528.1" } ] } }, { "isoform_ac": "A0A3B3ISA6-1", "url": "", "sequence": { "sequence": "XIPIIIPQTISELQLSVSAGSPHPAIARLTVAAPPSGGPGFLSIERPDSRPPRVGDTLNLNLRAVGSGATFSHYYYMILSRGQIVFMNREPKRTLTSVSVFVDHHLAPSFYFVAFYYHGDHPVANSLRVDVQAGACEGKLELSVDGAKQYRNGESVKLHLETDSLALVALGALDTALYAAGSKSHKPLNMGKVFEAMNSYDLGCGPGGGDSALQVFQAAGLAFSDGDQWTLSRKRLSCPKEKTTRKKRNVNFQKAINEKLGQYASPTAKRCCQDGVTRLPMMRSCEQRAARVQQPDCREPFLSCCQFAESLRKKSRDKGQAGLQRALEILQEEDLIDEDDIPVRSFFPENWLWRVETVDRFQILTLWLPDSLTTWEIHGLSLSKTKGLCVATPVQLRVFREFHLHLRLPMSVRRFEQLELRPVLYNYLDKNLTVSVHVSPVEGLCLAGGGGLAQQVLVPAGSARPVAFSVVPTAATAVSLKVVARGSFEFPVGDAVSKVLQIEKEGAIHREELVYELNPLDHRGRTLEIPGNSDPNMIPDGDFNSYVRVTASDPLDTLGSEGALSPGGVASLLRLPRGCGEQTMIYLAPTLAASRYLDKTEQWSTLPPETKDHAVDLIQKGYMRIQQFRKADGSYAAWLSRGSSTWLTAFVLKVLSLAQEQVGGSPEKLQETSNWLLSQQQADGSFQDLSPVIHRSMQGGLVGNDETVALTAFVTIALHHGLAVFQDEGAEPLKQRVEASISKASSFLGEKASAGLLGAHAAAITAYALTLTKAPADLRGVAHNNLMAMAQETGDNLYWGSVTGSQSNAVSPTPAPRNPSDPMPQAPALWIETTAYALLHLLLHEGKAEMADQAAAWLTRQGSFQGGFRSTQDTVIALDALSAYWIASHTTEERGLNVTLSSTGRNGFKSHALQLNNRQIRGLEEELQFSLGSKINVKVGGNSKGTLKVLRTYNVLDMKNTTCQDLQIEVTVKGHVEYTMEANEDYEDYEYDELPAKDDPDAPLQPVTPLQLFEGRRNRRRREAPKVVEEQESRVHYTVCIWRNGKVGLSGMAIADVTLLSGFHALRADLEKLTSLSDRYVPTSRECVGFEAVQEVPVGLVQPASATLYDYYNPERRCSVFYGAPSKSRLLATLCSAEVCQCAEGKCPRQRRALERGLQDEDGYRMKFACYYPRVEYGFQVKVLREDSRAAFRLFETKITQVLHFTKDVKAAANQMRNFLVRASCRLRLEPGKEYLIMGLDGATYDLEGHPQYLLDSNSWIEEMPSERLCRSTRQRAACAQLNDFLQEYGTQGCQV", "length": 1296, "header": "tr|A0A3B3ISA6-1|CO4B_HUMAN Computationally mapped isoform of Complement C4-B OS=Homo sapiens OX=9606 GN=C4B PE=1 SV=1 CANONICAL=P0C0L5-1" }, "locus": { "chromosome": "6", "start_pos": 32035275, "end_pos": 32024278, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000647698.1", "url": "https://www.ensembl.org/id/ENST00000647698.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497270.1", "url": "https://www.ensembl.org/id/ENSP00000497270.1" } ] } }, { "isoform_ac": "A0A3B3ISD7-1", "url": "", "sequence": { "sequence": "XWIETTAYALLHLLLHEGKAEMADQAAAWLTRQGSFQGGFRSTQDTVIALDALSAYWIASHTTEERGLNVTLSSTGRNGFKSHALQLNNRQIRGLEEELQFSLGSKINVKVGGNSKGTLKVLRTYNVLDMKNTTCQDLQIEVTVKGHVEYTTRDTPAAV", "length": 159, "header": "tr|A0A3B3ISD7-1|CO4B_HUMAN Computationally mapped isoform of Complement C4-B OS=Homo sapiens OX=9606 GN=C4B PE=1 SV=1 CANONICAL=P0C0L5-1" }, "locus": { "chromosome": "6", "start_pos": 32031843, "end_pos": 32029669, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000649658.1", "url": "https://www.ensembl.org/id/ENST00000649658.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497177.1", "url": "https://www.ensembl.org/id/ENSP00000497177.1" } ] } }, { "isoform_ac": "F5GXS0-1", "url": "", "sequence": { "sequence": 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"length": 1698, "header": "tr|F5GXS0-1|CO4B_HUMAN Computationally mapped isoform of Complement C4-B OS=Homo sapiens OX=9606 GN=C4B PE=1 SV=1 CANONICAL=P0C0L5-1" }, "locus": { "chromosome": "6", "start_pos": 32035274, "end_pos": 32014846, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000425700.3", "url": "https://www.ensembl.org/id/ENST00000425700.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000391933.2", "url": "https://www.ensembl.org/id/ENSP00000391933.2" } ] } }, { "isoform_ac": "P0C0L5-1", "url": "", "sequence": { "sequence": "MRLLWGLIWASSFFTLSLQKPRLLLFSPSVVHLGVPLSVGVQLQDVPRGQVVKGSVFLRNPSRNNVPCSPKVDFTLSSERDFALLSLQVPLKDAKSCGLHQLLRGPEVQLVAHSPWLKDSLSRTTNIQGINLLFSSRRGHLFLQTDQPIYNPGQRVRYRVFALDQKMRPSTDTITVMVENSHGLRVRKKEVYMPSSIFQDDFVIPDISEPGTWKISARFSDGLESNSSTQFEVKKYVLPNFEVKITPGKPYILTVPGHLDEMQLDIQARYIYGKPVQGVAYVRFGLLDEDGKKTFFRGLESQTKLVNGQSHISLSKAEFQDALEKLNMGITDLQGLRLYVAAAIIESPGGEMEEAELTSWYFVSSPFSLDLSKTKRHLVPGAPFLLQALVREMSGSPASGIPVKVSATVSSPGSVPEVQDIQQNTDGSGQVSIPIIIPQTISELQLSVSAGSPHPAIARLTVAAPPSGGPGFLSIERPDSRPPRVGDTLNLNLRAVGSGATFSHYYYMILSRGQIVFMNREPKRTLTSVSVFVDHHLAPSFYFVAFYYHGDHPVANSLRVDVQAGACEGKLELSVDGAKQYRNGESVKLHLETDSLALVALGALDTALYAAGSKSHKPLNMGKVFEAMNSYDLGCGPGGGDSALQVFQAAGLAFSDGDQWTLSRKRLSCPKEKTTRKKRNVNFQKAINEKLGQYASPTAKRCCQDGVTRLPMMRSCEQRAARVQQPDCREPFLSCCQFAESLRKKSRDKGQAGLQRALEILQEEDLIDEDDIPVRSFFPENWLWRVETVDRFQILTLWLPDSLTTWEIHGLSLSKTKGLCVATPVQLRVFREFHLHLRLPMSVRRFEQLELRPVLYNYLDKNLTVSVHVSPVEGLCLAGGGGLAQQVLVPAGSARPVAFSVVPTAATAVSLKVVARGSFEFPVGDAVSKVLQIEKEGAIHREELVYELNPLDHRGRTLEIPGNSDPNMIPDGDFNSYVRVTASDPLDTLGSEGALSPGGVASLLRLPRGCGEQTMIYLAPTLAASRYLDKTEQWSTLPPETKDHAVDLIQKGYMRIQQFRKADGSYAAWLSRGSSTWLTAFVLKVLSLAQEQVGGSPEKLQETSNWLLSQQQADGSFQDLSPVIHRSMQGGLVGNDETVALTAFVTIALHHGLAVFQDEGAEPLKQRVEASISKASSFLGEKASAGLLGAHAAAITAYALTLTKAPADLRGVAHNNLMAMAQETGDNLYWGSVTGSQSNAVSPTPAPRNPSDPMPQAPALWIETTAYALLHLLLHEGKAEMADQAAAWLTRQGSFQGGFRSTQDTVIALDALSAYWIASHTTEERGLNVTLSSTGRNGFKSHALQLNNRQIRGLEEELQFSLGSKINVKVGGNSKGTLKVLRTYNVLDMKNTTCQDLQIEVTVKGHVEYTMEANEDYEDYEYDELPAKDDPDAPLQPVTPLQLFEGRRNRRRREAPKVVEEQESRVHYTVCIWRNGKVGLSGMAIADVTLLSGFHALRADLEKLTSLSDRYVSHFETEGPHVLLYFDSVPTSRECVGFEAVQEVPVGLVQPASATLYDYYNPERRCSVFYGAPSKSRLLATLCSAEVCQCAEGKCPRQRRALERGLQDEDGYRMKFACYYPRVEYGFQVKVLREDSRAAFRLFETKITQVLHFTKDVKAAANQMRNFLVRASCRLRLEPGKEYLIMGLDGATYDLEGHPQYLLDSNSWIEEMPSERLCRSTRQRAACAQLNDFLQEYGTQGCQV", "length": 1744, "header": "sp|P0C0L5-1|CO4B_HUMAN Isoform 1 of Complement C4-B OS=Homo sapiens OX=9606 GN=C4B PE=1 SV=2 CANONICAL=P0C0L5-1" }, "locus": { "chromosome": "6", "start_pos": 32035274, "end_pos": 32014846, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000435363.7", "url": "https://www.ensembl.org/id/ENST00000435363.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000415941.2", "url": "https://www.ensembl.org/id/ENSP00000415941.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "GVAHNNLMAMAQETGDNLYWGSVTGSQSNAVSPTPAPR", "relation": "attached", "comment": "", "start_pos": 1211, "start_aa": "Gly", "end_pos": 1248, "end_aa": "Arg", "evidence": [ { "id": "P0C0L5", "database": "UniCarbKB", "url": "" }, { "id": "28035807", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28035807" }, { "id": "10.1021/acs.analchem.6b02887", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1021/acs.analchem.6b02887" } ] }, { "glytoucan_ac": "G81006GJ", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1244, "start_aa": "Thr", "end_pos": 1244, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1244", "evidence": [ { "id": "1146", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1146" }, { "id": "34725484", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725484" } ] }, { "glytoucan_ac": "G00912UN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1328, "start_aa": "Asn", "end_pos": 1328, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1328", "evidence": [ { "id": "P0C0L5@N1328", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P0C0L5@N1328" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1328, "start_aa": "Asn", "end_pos": 1328, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1328", "evidence": [ { "id": "1146", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1146" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G06356OH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1328, "start_aa": "Asn", "end_pos": 1328, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1328", "evidence": [ { "id": "1146", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1146" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" }, { "id": "32125861", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32125861" } ] }, { "glytoucan_ac": "G08146BT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1328, "start_aa": "Asn", "end_pos": 1328, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1328", "evidence": [ { "id": "1146", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1146" }, { "id": "32125861", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32125861" } ] }, { "glytoucan_ac": "G10486CT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1328, "start_aa": "Asn", "end_pos": 1328, 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Isolation and characterization.", "journal": "The Journal of experimental medicine", "date": "1978", "authors": "Scharfstein J, Ferreira A, Gigli I, Nussenzweig V", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "670886", "url": "https://glygen.org/publication/PubMed/670886" } ] }, { "title": "Amino acid sequence of a polymorphic segment from fragment C4d of human complement component C4.", "journal": "FEBS Lett.", "date": "1983", "authors": "Chakravarti DN, Campbell RD, Gagnon J", "evidence": [ { "database": "UniProtKB", "id": "P0C0L5", "url": "https://www.uniprot.org/uniprot/P0C0L5" } ], "reference": [ { "type": "PubMed", "id": "6832377", "url": "https://glygen.org/publication/PubMed/6832377" } ] }, { "title": "The human complement system: assembly of the classical pathway C3 convertase.", "journal": "The Biochemical journal", "date": "1980", "authors": "Kerr MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "6906228", "url": "https://glygen.org/publication/PubMed/6906228" } ] }, { "title": "Sequence determination of the thiolester site of the fourth component of human complement.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1981", "authors": "Harrison R A, Thomas M L, Tack B F", "evidence": [ { "database": "UniProtKB", "id": "P0C0L5", "url": "https://www.uniprot.org/uniprot/P0C0L5" } ], "reference": [ { "type": "PubMed", "id": "6950384", "url": "https://glygen.org/publication/PubMed/6950384" } ] }, { "title": "Amino acid sequence around the thiol and reactive acyl groups of human complement component C4.", "journal": "Biochem. J.", "date": "1981", "authors": "Campbell R D, Gagnon J, Porter R R", "evidence": [ { "database": "UniProtKB", "id": "P0C0L5", "url": "https://www.uniprot.org/uniprot/P0C0L5" } ], "reference": [ { "type": "PubMed", "id": "6978711", "url": "https://glygen.org/publication/PubMed/6978711" } ] }, { "title": "Human C4-binding protein. II. Role in proteolysis of C4b by C3b-inactivator.", "journal": "The Journal of experimental medicine", "date": "1978", "authors": "Fujita T, Gigli I, Nussenzweig V", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "702059", "url": "https://glygen.org/publication/PubMed/702059" } ] }, { "title": "Cleavage of C2 by C1s into the antigenically distinct fragments C2a and C2b: demonstration of binding of C2b to C4b.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1977", "authors": "Nagasawa S, Stroud RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-166663", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166663" } ], "reference": [ { "type": "PubMed", "id": "70787", "url": "https://glygen.org/publication/PubMed/70787" } ] }, { "title": "Cleavage of C4b by C3b inactivator: production of a nicked form of C4b, C4b', as an intermediate cleavage product of C4b by C3b inactivator.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1980", "authors": "Nagasawa S, Ichihara C, Stroud RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "7391570", "url": "https://glygen.org/publication/PubMed/7391570" } ] }, { "title": "Interaction between the labile binding sites of the fourth (C4) and fifth (C5) human complement proteins and erythrocyte cell membranes.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1980", "authors": "Law SK, Lichtenberg NA, Holcombe FH, Levine RP", "evidence": [ { "database": "Reactome", "id": "R-HSA-166663", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166663" } ], "reference": [ { "type": "PubMed", "id": "7391573", "url": "https://glygen.org/publication/PubMed/7391573" } ] }, { "title": "Complement inhibition by human vitronectin involves non-heparin binding domains.", "journal": "Clinical and experimental immunology", "date": "1995", "authors": "Sheehan M, Morris CA, Pussell BA, Charlesworth JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "7542572", "url": "https://glygen.org/publication/PubMed/7542572" } ] }, { "title": "Interaction of C1-inhibitor with the C1r and C1s subcomponents in human C1.", "journal": "Biochimica et biophysica acta", "date": "1979", "authors": "Arlaud GJ, Reboul A, Sim RB, Colomb MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "760802", "url": "https://glygen.org/publication/PubMed/760802" } ] }, { "title": "Interaction of 125I-labelled complement subcomponents C-1r and C-1s with protease inhibitors in plasma.", "journal": "FEBS letters", "date": "1979", "authors": "Sim RB, Reboul A, Arlaud GJ, Villiers CL, Colomb MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "761607", "url": "https://glygen.org/publication/PubMed/761607" } ] }, { "title": "Functional dissection of the CD21/CD19/TAPA-1/Leu-13 complex of B lymphocytes.", "journal": "The Journal of experimental medicine", "date": "1993", "authors": "Matsumoto AK, Martin DR, Carter RH, Klickstein LB, Ahearn JM, Fearon DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "7690834", "url": "https://glygen.org/publication/PubMed/7690834" } ] }, { "title": "Interactions of soluble CD59 with the terminal complement complexes. CD59 and C9 compete for a nascent epitope on C8.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1993", "authors": "Lehto T, Meri S", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "7691959", "url": "https://glygen.org/publication/PubMed/7691959" } ] }, { "title": "Analysis of the functional domains of complement receptor type 1 (C3b/C4b receptor; CD35) by substitution mutagenesis.", "journal": "J. Biol. Chem.", "date": "1994", "authors": "Krych M, Clemenza L, Howdeshell D, Hauhart R, Hourcade D, Atkinson J P", "evidence": [ { "database": "UniProtKB", "id": "P0C0L5", "url": "https://www.uniprot.org/uniprot/P0C0L5" } ], "reference": [ { "type": "PubMed", "id": "8175757", "url": "https://glygen.org/publication/PubMed/8175757" } ] }, { "title": "Clusterin, the human apolipoprotein and complement inhibitor, binds to complement C7, C8 beta, and the b domain of C9.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1993", "authors": "Tschopp J, Chonn A, Hertig S, French LE", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "8345200", "url": "https://glygen.org/publication/PubMed/8345200" } ] }, { "title": "Covalent binding properties of the human complement protein C4 and hydrolysis rate of the internal thioester upon activation.", "journal": "Protein science : a publication of the Protein Society", "date": "1993", "authors": "Sepp A, Dodds AW, Anderson MJ, Campbell RD, Willis AC, Law SK", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "8495193", "url": "https://glygen.org/publication/PubMed/8495193" } ] }, { "title": "The reaction mechanism of the internal thioester in the human complement component C4.", "journal": "Nature", "date": "1996", "authors": "Dodds AW, Ren XD, Willis AC, Law SK", "evidence": [ { "database": "UniProtKB", "id": "P0C0L5", "url": "https://www.uniprot.org/uniprot/P0C0L5" }, { "database": "Reactome", "id": "R-HSA-166663", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166663" } ], "reference": [ { "type": "PubMed", "id": "8538770", "url": "https://glygen.org/publication/PubMed/8538770" } ] }, { "title": "Complete sequence of the complement C4 gene from the HLA-A1, B8, C4AQ0, C4B1, DR3 haplotype.", "journal": "Immunogenetics", "date": "1996", "authors": "Ulgiati D, Townend DC, Christiansen FT, Dawkins RL, Abraham LJ", "evidence": [ { "database": "UniProtKB", "id": "P0C0L5", "url": "https://www.uniprot.org/uniprot/P0C0L5" } ], "reference": [ { "type": "PubMed", "id": "8575831", "url": "https://glygen.org/publication/PubMed/8575831" } ] }, { "title": "Localization of classical and alternative pathway regulatory activity within the decay-accelerating factor.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1996", "authors": "Brodbeck WG, Liu D, Sperry J, Mold C, Medof ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "8786315", "url": "https://glygen.org/publication/PubMed/8786315" } ] }, { "title": "Binding of human and rat CD59 to the terminal complement complexes.", "journal": "Immunology", "date": "1997", "authors": "Lehto T, Morgan BP, Meri S", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "9038722", "url": "https://glygen.org/publication/PubMed/9038722" } ] }, { "title": "Inhibition of complement activity by humanized anti-C5 antibody and single-chain Fv.", "journal": "Molecular immunology", "date": "1996", "authors": "Thomas TC, Rollins SA, Rother RP, Giannoni MA, Hartman SL, Elliott EA, Nye SH, Matis LA, Squinto SP, Evans MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-174577", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174577" } ], "reference": [ { "type": "PubMed", "id": "9171898", "url": "https://glygen.org/publication/PubMed/9171898" } ] }, { "title": "C4d DNA sequences of two infrequent human allotypes (C4A13 and C4B12) and the presence of signal sequences enhancing recombination.", "journal": "J. Immunol.", "date": "1998", "authors": "Mart\u00ednez-Quiles N, Paz-Artal E, Moreno-Pelayo M A, Long\u00e1s J, Ferre-L\u00f3pez S, Rosal M, Arnaiz-Villena A", "evidence": [ { "database": "UniProtKB", "id": "P0C0L5", "url": "https://www.uniprot.org/uniprot/P0C0L5" } ], "reference": [ { "type": "PubMed", "id": "9759862", "url": "https://glygen.org/publication/PubMed/9759862" } ] }, { "title": "Alternative pathway of complement: recruitment of precursor properdin by the labile C3/C5 convertase and the potentiation of the pathway.", "journal": "The Journal of experimental medicine", "date": "1976", "authors": "Medicus RG, Gotze O, Muller-Eberhard HJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "978134", "url": "https://glygen.org/publication/PubMed/978134" } ] } ], "pathway": [ { "id": "hsa:100293534", "name": "", "url": 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"length": 1737 }, "evidence": [ { "id": "45923072", "url": "http://www.informatics.jax.org/homology/45923072", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P0C0L4-1", "protein_name": "Complement C4-A", "gene_name": "C4A", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MRLLWGLIWASSFFTLSLQKPRLLLFSPSVVHLGVPLSVGVQLQDVPRGQVVKGSVFLRNPSRNNVPCSPKVDFTLSSERDFALLSLQVPLKDAKSCGLHQLLRGPEVQLVAHSPWLKDSLSRTTNIQGINLLFSSRRGHLFLQTDQPIYNPGQRVRYRVFALDQKMRPSTDTITVMVENSHGLRVRKKEVYMPSSIFQDDFVIPDISEPGTWKISARFSDGLESNSSTQFEVKKYVLPNFEVKITPGKPYILTVPGHLDEMQLDIQARYIYGKPVQGVAYVRFGLLDEDGKKTFFRGLESQTKLVNGQSHISLSKAEFQDALEKLNMGITDLQGLRLYVAAAIIESPGGEMEEAELTSWYFVSSPFSLDLSKTKRHLVPGAPFLLQALVREMSGSPASGIPVKVSATVSSPGSVPEVQDIQQNTDGSGQVSIPIIIPQTISELQLSVSAGSPHPAIARLTVAAPPSGGPGFLSIERPDSRPPRVGDTLNLNLRAVGSGATFSHYYYMILSRGQIVFMNREPKRTLTSVSVFVDHHLAPSFYFVAFYYHGDHPVANSLRVDVQAGACEGKLELSVDGAKQYRNGESVKLHLETDSLALVALGALDTALYAAGSKSHKPLNMGKVFEAMNSYDLGCGPGGGDSALQVFQAAGLAFSDGDQWTLSRKRLSCPKEKTTRKKRNVNFQKAINEKLGQYASPTAKRCCQDGVTRLPMMRSCEQRAARVQQPDCREPFLSCCQFAESLRKKSRDKGQAGLQRALEILQEEDLIDEDDIPVRSFFPENWLWRVETVDRFQILTLWLPDSLTTWEIHGLSLSKTKGLCVATPVQLRVFREFHLHLRLPMSVRRFEQLELRPVLYNYLDKNLTVSVHVSPVEGLCLAGGGGLAQQVLVPAGSARPVAFSVVPTAAAAVSLKVVARGSFEFPVGDAVSKVLQIEKEGAIHREELVYELNPLDHRGRTLEIPGNSDPNMIPDGDFNSYVRVTASDPLDTLGSEGALSPGGVASLLRLPRGCGEQTMIYLAPTLAASRYLDKTEQWSTLPPETKDHAVDLIQKGYMRIQQFRKADGSYAAWLSRDSSTWLTAFVLKVLSLAQEQVGGSPEKLQETSNWLLSQQQADGSFQDPCPVLDRSMQGGLVGNDETVALTAFVTIALHHGLAVFQDEGAEPLKQRVEASISKANSFLGEKASAGLLGAHAAAITAYALTLTKAPVDLLGVAHNNLMAMAQETGDNLYWGSVTGSQSNAVSPTPAPRNPSDPMPQAPALWIETTAYALLHLLLHEGKAEMADQASAWLTRQGSFQGGFRSTQDTVIALDALSAYWIASHTTEERGLNVTLSSTGRNGFKSHALQLNNRQIRGLEEELQFSLGSKINVKVGGNSKGTLKVLRTYNVLDMKNTTCQDLQIEVTVKGHVEYTMEANEDYEDYEYDELPAKDDPDAPLQPVTPLQLFEGRRNRRRREAPKVVEEQESRVHYTVCIWRNGKVGLSGMAIADVTLLSGFHALRADLEKLTSLSDRYVSHFETEGPHVLLYFDSVPTSRECVGFEAVQEVPVGLVQPASATLYDYYNPERRCSVFYGAPSKSRLLATLCSAEVCQCAEGKCPRQRRALERGLQDEDGYRMKFACYYPRVEYGFQVKVLREDSRAAFRLFETKITQVLHFTKDVKAAANQMRNFLVRASCRLRLEPGKEYLIMGLDGATYDLEGHPQYLLDSNSWIEEMPSERLCRSTRQRAACAQLNDFLQEYGTQGCQV", "length": 1744 }, "evidence": [ { "id": "45923072", "url": "http://www.informatics.jax.org/homology/45923072", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "Q6MG90-1", "protein_name": "Complement C4B (Chido blood group)", "gene_name": "C4b", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MRLLWGLAWAFSFFASSLQKPRLLLFSPSVVNLGTPLSVGVQLLDAPAGQEVKGSVYLRNPTSGPCSPKKDFKLSSGNDFVLLRLEVPLEDVRNCGLFDLRRAPHIQLVAYSPWLKNTAPKATETQGVNLLFSSRRGHIFVQTDQPIYNPGQRVRYRVFALDQKMRPSTDTLTVTVENSHGLRVRKKVVFAPTSIFTDDFVIPDISEPGTWKISARFSDGLESNRSTHFEVKKYVLPNFEVKLTPWKPYILTVPSYREEIQLDIQARYVYGKPVQGVAYTRFALMDEQGKKTFLRGLETQTKLVEGQTHISISRDQFQAALGKVNTEIGDLEGLRLYAAVAVIESPGGEMEEAELTSWPFVSSAFSLDLSHTKQHLVPGAPFLLQALVREMSGSEASDVPVKVSATLLSGSDSKVLDFQQNTNGIGQVSFSIHVPPTITELRLLVSAGSLYPAVAKLTVQAPPSRGPGFLSIEPLDLRSPRVGDTFILNLRTVGIPVPTFSHYYYMIISRGQIMAMSREPRTTLTSISVLVDHHLAPSFYFVAYFYHQGLPVANSLLINVQPGDCEGKLELKVDGAKEYRNGESMKLQLQTDSEALVALGAVDTALYAVGGRSHKPLDMSKVFEVMNSYNLGCGPGGGDDALQVFQTAGLAFSDGDRLTQTKEDLSCPKEKISRQKRNVNFQKAISEKLGQYSSPDTKRCCQDGMTKLPMARTCEQRAARVPQPACREPFLSCCKFAEDLRRNQTRSQAGLARAQNVMQEEDLIDEDDILVRSFFPENWLWKVEPVDRSKLLTVWLPDSLTTWEIHGVSLSKSKGLCVAKPTRVRVFREFHLHLRLPISVRRFEQLELRPVLYNYLSEDVTVSVHVSPVEGLCLAGGGLLAQQVSVPAGSARPVAFSVVPTAAASMPLKVVARGSFDIGDAVSKILQIEKEGAIHREEIVYNLDPLNNLGRSLEIPGSSDPNVIPDGDFSSFVRVTASEPLETLGSEGALSPGGVASLLKLPTGCAEQTMVLLAPTLTASRYLDRTEQWSKLPPETKDHAVDLIQKGHMRIQQFRKKDGSFGAWLDRDSSTWLTAFVLKILSLAQEQIGDSPEKLQETAGWLLGQQLDDGSFHDPCPVIQRGMQGGLVGTDETVALTAFVVIALHHGLAVFQDENSQQLKKRVEASIMKANSFLGQKASAGLLGAHASAITAYALTLTKASEDLRNVAHNSLMAMAEETGENLYWGLAIGSQDNVVSSTAAPRNPSEPVPQAPALWIETTAYGLLHLLLREGKGEMADKAATWLTHQGSFQGGFRSTQDTVVALDALSAYWIASHTTEEKALNVTLSSMGRNGYKSHLLQLNNHQVKGLEEELKFSLGSTINVKVGGNSKGTLKILRTYNVLDMKNTTCQDLRIEVTITGYVEYTREANEDYEYDYDMPAADDPSVHSQPVTPLQLFEGRRSRRRREAPKAADEQESRVQYTVCIWRNGNLGLSGMAIADITLLSGFQALRADLEKLTSLSDRYVSHFETDGPHVLLYFDSVPTTRECVGFGALQEVAVGLVQPASAVLYDYYSPDHKCSVFYAGPTKSKLLSTLCSADVCQCAEGKCPRQRRSLERGVEDKDGYRMKFACYYPRVEYGFQVKVLREDSRSAFRLFETKITQVLHFTKDAKASIGQTRNFLVRASCRLRLEPSKEYLIMGMDGVTSDLKGDPQYLLDSNSWIEEMPSERLCRSTRQRAACGQLNDFLQEYRSQGCQV", "length": 1737 }, "evidence": [ { "id": "45923072", "url": "http://www.informatics.jax.org/homology/45923072", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 9, "go_terms": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P0C0L5", "url": "https://www.uniprot.org/uniprot/P0C0L5" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P0C0L5", "url": "https://www.uniprot.org/uniprot/P0C0L5" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P0C0L5", "url": "https://www.uniprot.org/uniprot/P0C0L5" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P0C0L5", "url": "https://www.uniprot.org/uniprot/P0C0L5" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P0C0L5", "url": "https://www.uniprot.org/uniprot/P0C0L5" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P0C0L5", "url": "https://www.uniprot.org/uniprot/P0C0L5" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P0C0L5", "url": "https://www.uniprot.org/uniprot/P0C0L5" } ], "pmid": "" }, { "name": "blood microparticle", "id": "GO:0072562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072562", "evidence": [ { "database": "UniProtKB", "id": "P0C0L5", "url": "https://www.uniprot.org/uniprot/P0C0L5" } ], "pmid": "" }, { "name": "symbiont cell surface", "id": "GO:0106139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106139", "evidence": [ { "database": "UniProtKB", "id": "P0C0L5", "url": "https://www.uniprot.org/uniprot/P0C0L5" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 7, "go_terms": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P0C0L5", "url": "https://www.uniprot.org/uniprot/P0C0L5" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P0C0L5", "url": "https://www.uniprot.org/uniprot/P0C0L5" } ], "pmid": "" }, { "name": "complement activation, classical pathway", "id": "GO:0006958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006958", "evidence": [ { "database": "UniProtKB", "id": "P0C0L5", "url": "https://www.uniprot.org/uniprot/P0C0L5" } ], "pmid": "" }, { "name": "complement activation", "id": "GO:0006956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006956", "evidence": [ { "database": "UniProtKB", "id": "P0C0L5", "url": "https://www.uniprot.org/uniprot/P0C0L5" } ], "pmid": "" }, { "name": "positive regulation of apoptotic cell clearance", "id": "GO:2000427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000427", "evidence": [ { "database": "UniProtKB", "id": "P0C0L5", "url": "https://www.uniprot.org/uniprot/P0C0L5" } ], "pmid": "" }, { "name": "opsonization", "id": "GO:0008228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008228", "evidence": [ { "database": "UniProtKB", "id": "P0C0L5", "url": "https://www.uniprot.org/uniprot/P0C0L5" } ], "pmid": "" }, { "name": "detection of molecule of bacterial origin", "id": "GO:0032490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032490", "evidence": [ { "database": "UniProtKB", "id": "P0C0L5", "url": "https://www.uniprot.org/uniprot/P0C0L5" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "endopeptidase inhibitor activity", "id": "GO:0004866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004866", "evidence": [ { "database": "UniProtKB", "id": "P0C0L5", "url": "https://www.uniprot.org/uniprot/P0C0L5" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "P0C0L5", "url": "https://www.uniprot.org/uniprot/P0C0L5" } ], "pmid": "" }, { "name": "complement binding", "id": "GO:0001848", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001848", "evidence": [ { "database": "UniProtKB", "id": "P0C0L5", "url": "https://www.uniprot.org/uniprot/P0C0L5" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "complement C4-B N-glycosylated 1 (human)", "definition": "A complement C4-B (human) that has been N-glycosylated at the residue equivalent to Asn-1391 of the amino acid sequence represented by UniProtKB:P0C0L5-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P0C0L5-1, Asn-1391, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000054688", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054688" } ] }, { "name": "complement C4-B N-glycosylated 2 (human)", "definition": "A complement C4-B (human) that has been N-glycosylated at the residue equivalent to Asn-1391 of the amino acid sequence represented by UniProtKB:P0C0L5-1, in which the glycan composition is represented by GlyTouCan:G10486CT. Example: UniProtKB:P0C0L5-1, Asn-1391, MOD:00160~GNO:G10486CT. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000054689", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054689" } ] }, { "name": "complement C4-B N-glycosylated 3 (human)", "definition": "A complement C4-B (human) that has been N-glycosylated at the residue equivalent to Asn-1391 of the amino acid sequence represented by UniProtKB:P0C0L5-1, in which the glycan composition is represented by GlyTouCan:G59626AS. Example: UniProtKB:P0C0L5-1, Asn-1391, MOD:00160~GNO:G59626AS. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000054690", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054690" } ] }, { "name": "complement C4-B N-glycosylated 4 (human)", "definition": "A complement C4-B (human) that has been N-glycosylated at the residue equivalent to Asn-226 of the amino acid sequence represented by UniProtKB:P0C0L5-1, in which the glycan composition is represented by GlyTouCan:G01650EU. Example: UniProtKB:P0C0L5-1, Asn-226, MOD:00160~GNO:G01650EU. [PRO:DNx, PMID:29741879]", "evidence": [ { "id": "PR:000054691", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054691" } ] }, { "name": "complement C4-B N-glycosylated 5 (human)", "definition": "A complement C4-B (human) that has been N-glycosylated at the residue equivalent to Asn-226 of the amino acid sequence represented by UniProtKB:P0C0L5-1, in which the glycan composition is represented by GlyTouCan:G46503DX. Example: UniProtKB:P0C0L5-1, Asn-226, MOD:00160~GNO:G46503DX. [PRO:DNx, PMID:29741879]", "evidence": [ { "id": "PR:000054692", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054692" } ] }, { "name": "complement C4-B N-glycosylated 6 (human)", "definition": "A complement C4-B (human) that has been N-glycosylated at the residue equivalent to Asn-226 of the amino acid sequence represented by UniProtKB:P0C0L5-1, in which the glycan composition is represented by GlyTouCan:G62765YT. Example: UniProtKB:P0C0L5-1, Asn-226, MOD:00160~GNO:G62765YT. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000054693", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054693" } ] }, { "name": "complement C4-B N-glycosylated 7 (human)", "definition": "A complement C4-B (human) that has been N-glycosylated at the residue equivalent to Asn-226 of the amino acid sequence represented by UniProtKB:P0C0L5-1, in which the glycan composition is represented by GlyTouCan:G80920RR. Example: UniProtKB:P0C0L5-1, Asn-226, MOD:00160~GNO:G80920RR. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000054694", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054694" } ] } ], "site_annotation": [ { "start_pos": 1328, "end_pos": 1330, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1391, "end_pos": 1393, "annotation": "n_glycosylation_sequon" }, { "start_pos": 226, "end_pos": 228, "annotation": "n_glycosylation_sequon" }, { "start_pos": 862, "end_pos": 864, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 226, 862, 1328, 1391 ], "o_linked_sites": [ 310, 313, 1211, 1244 ], "snv_sites": [ 852, 864, 1074, 1114, 1119, 1250, 1328 ], "glycation_sites": [], "phosphorylation_sites": [ 918 ], "sequon_annotation_sites": [ { "start_pos": 1328, "end_pos": 1330 }, { "start_pos": 1391, "end_pos": 1393 }, { "start_pos": 226, "end_pos": 228 }, { "start_pos": 862, "end_pos": 864 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 57 }, { "field": "total_sites", "count": 8 }, { "field": "n_linked_glycans", "count": 37 }, { "field": "n_linked_glycan_sites", "count": 8 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 4 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 53 }, { "field": "total_sites", "count": 8 }, { "field": "n_linked_glycans", "count": 37 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 4 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 96 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }