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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95084", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95084" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95084" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O95084", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95084" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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"start_pos": 86951282, "end_pos": 86823388, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000533902.2", "url": "https://www.ensembl.org/id/ENST00000533902.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000437268.1", "url": "https://www.ensembl.org/id/ENSP00000437268.1" } ] } }, { "isoform_ac": "E9PRR2-1", "url": "", "sequence": { "sequence": "MAGIPGLLFLLFFLLCAVGQVSPYSAPWKPTWPAYRLPVVLPQSTLNLAKPDFGAEAKLEVSSSCGPQCHKGTPLPTYEEAKQYLSYETLYANGSRTETQVGIYILSSSGDGAQHRDSGSSGKSRRKRQIYGYDSRFSIFGKDFLLNYPFSTSV", "length": 154, "header": "tr|E9PRR2-1|E9PRR2_HUMAN Computationally mapped isoform of Serine protease 23 OS=Homo sapiens OX=9606 GN=PRSS23 PE=1 SV=1 CANONICAL=O95084-1" }, "locus": { "chromosome": "11", "start_pos": 86808105, "end_pos": 86807644, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000527521.1", "url": "https://www.ensembl.org/id/ENST00000527521.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000435951.1", "url": 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}, { "isoform_ac": "O95084-2", "url": "", "sequence": { "sequence": "MAGIPGLLFLLFFLLCAVGQVSPYSAPWKPTWPAYRLPVVLPQSTLNLAKQYLSYETLYANGSRTETQVGIYILSSSGDGAQHRDSGSSGKSRRKRQIYGYDSRFSIFGKDFLLNYPFSTSVKLSTGCTGTLVAEKHVLTAAHCIHDGKTYVKGTQKLRVGFLKPKFKDGGRGANDSTSAMPEQMKFQWIRVKRTHVPKGWIKGNANDIGMDYDYALLELKKPHKRKFMKIGVSPPAKQLPGGRIHFSGYDNDRPGNLVYRFCDVKDETYDLLYQQCDAQPGASGSGVYVRMWKRQQQKWERKIIGIFSGHQWVDMNGSPQDFNVAVRITPLKYAQICYWIKGNYLDCREG", "length": 351, "header": "sp|O95084-2|PRS23_HUMAN Isoform 2 of Serine protease 23 OS=Homo sapiens OX=9606 GN=PRSS23 PE=1 SV=1 CANONICAL=O95084-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G84452RH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 207, "start_aa": "Asn", "end_pos": 207, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn207", "evidence": [ { "id": "1736", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1736" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 207, "start_aa": "Asn", "end_pos": 207, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn207", "evidence": [ { "id": "O95084", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95084#ptm_processing" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "LEVSSSCGPQCHK", "relation": "attached", "comment": "Data provided by 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factor binding protein 3 and acid labile subunit expressed from Xenopus oocytes.", "journal": "Journal of biochemistry and molecular biology", "date": "2004", "authors": "Choi KY, Kyung YJ, Lee CY, Lee DH", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "15469690", "url": "https://glygen.org/publication/PubMed/15469690" } ] }, { "title": "Role of N- and C-terminal residues of insulin-like growth factor (IGF)-binding protein-3 in regulating IGF complex formation and receptor activation.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Yan X, Forbes BE, McNeil KA, Baxter RC, Firth SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "15485880", "url": "https://glygen.org/publication/PubMed/15485880" } ] }, { 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IGF binding protein-4 and -5.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2007", "authors": "Laursen LS, Kjaer-Sorensen K, Andersen MH, Oxvig C", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "17312271", "url": "https://glygen.org/publication/PubMed/17312271" } ] }, { "title": "Cooperativity of the N- and C-terminal domains of insulin-like growth factor (IGF) binding protein 2 in IGF binding.", "journal": "Biochemistry", "date": "2007", "authors": "Kuang Z, Yao S, McNeil KA, Thompson JA, Bach LA, Forbes BE, Wallace JC, Norton RS", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "17985932", "url": "https://glygen.org/publication/PubMed/17985932" } ] }, { "title": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "23090970", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology.", "journal": "The EMBO journal", "date": "2013", "authors": "Steentoft C, Vakhrushev SY, Joshi HJ, Kong Y, Vester-Christensen MB, Schjoldager KT, Lavrsen K, Dabelsteen S, Pedersen NB, Marcos-Silva L, Gupta R, Bennett EP, Mandel U, Brunak S, Wandall HH, Levery SB, Clausen H", "evidence": [ { "database": "UniCarbKB", "id": "O95084", "url": "" } ], "reference": [ { "type": "PubMed", "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "Structure of the Mr 140,000 growth hormone-dependent insulin-like growth factor binding protein complex: determination by reconstitution and affinity-labeling.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1989", "authors": "Baxter RC, Martin JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "2476804", "url": "https://glygen.org/publication/PubMed/2476804" } ] }, { "title": "Cloning, sequence analysis and expression of a cDNA encoding a novel insulin-like growth factor binding protein (IGFBP-2).", "journal": "The EMBO journal", "date": "1989", "authors": "Binkert C, Landwehr J, Mary JL, Schwander J, Heinrich G", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "2479552", "url": "https://glygen.org/publication/PubMed/2479552" } ] }, { "title": "A Single Kinase Generates the Majority of the Secreted Phosphoproteome.", "journal": "Cell", "date": "2015", "authors": "Tagliabracci VS, Wiley SE, Guo X, Kinch LN, Durrant E, Wen J, Xiao J, Cui J, Nguyen KB, Engel JL, Coon JJ, Grishin N, Pinna LA, Pagliarini DJ, Dixon JE", "evidence": [ { "database": "UniProtKB", "id": "O95084", "url": "https://www.uniprot.org/uniprot/O95084" }, { "database": "Reactome", "id": "R-HSA-381426", 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"authors": "Arai T, Parker A, Busby W Jr, Clemmons DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7519608", "url": "https://glygen.org/publication/PubMed/7519608" } ] }, { "title": "Matrix metalloproteinases degrade insulin-like growth factor-binding protein-3 in dermal fibroblast cultures.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Fowlkes JL, Enghild JJ, Suzuki K, Nagase H", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7523391", "url": "https://glygen.org/publication/PubMed/7523391" } ] }, { "title": "Recombinant human insulin-like growth factor (IGF)-binding protein-6 inhibits IGF-II-induced differentiation of L6A1 myoblasts.", "journal": "Endocrinology", "date": "1994", "authors": "Bach LA, 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specific antigen-proteolyzed insulin-like growth factor binding protein-3.", "journal": "Growth regulation", "date": "1994", "authors": "Fielder PJ, Rosenfeld RG, Graves HC, Grandbois K, Maack CA, Sawamura S, Ogawa Y, Sommer A, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7538844", "url": "https://glygen.org/publication/PubMed/7538844" } ] }, { "title": "Serum levels of insulin-like growth factor (IGF)-binding protein-3 (IGFBP-3) in healthy infants, children, and adolescents: the relation to IGF-I, IGF-II, IGFBP-1, IGFBP-2, age, sex, body mass index, and pubertal maturation.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1995", "authors": "Juul A, Dalgaard P, Blum WF, Bang P, Hall K, Michaelsen KF, Muller J, Skakkebaek NE", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": 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LA, Rechler MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "8781553", "url": "https://glygen.org/publication/PubMed/8781553" } ] }, { "title": "Insulin-like growth factor binding protein (IGFBP) proteases: functional regulators of cell growth.", "journal": "Progress in growth factor research", "date": "1995", "authors": "Rajah R, Katz L, Nunn S, Solberg P, Beers T, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "8817670", "url": "https://glygen.org/publication/PubMed/8817670" } ] }, { "title": "Recombinant human insulin-like growth factor (IGF) binding protein-3 stimulates prostate carcinoma cell proliferation via an IGF-dependent mechanism. Role of serine proteases.", "journal": "Growth regulation", "date": "1996", "authors": "Angelloz-Nicoud P, Harel L, Binoux M", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "8894645", "url": "https://glygen.org/publication/PubMed/8894645" } ] }, { "title": "Isolation and characterization of proteolytic fragments of insulin-like growth factor-binding protein-3.", "journal": "Hormone research", "date": "1996", "authors": "Lalou C, Lassarre C, Binoux M", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "8964575", "url": "https://glygen.org/publication/PubMed/8964575" } ] }, { "title": "Insulin-like growth factor (IGF)-binding protein 5 forms an alternative ternary complex with IGFs and the acid-labile subunit.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Twigg SM, Baxter RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "9497324", "url": "https://glygen.org/publication/PubMed/9497324" } ] }, { "title": "Identification of novel high molecular weight insulin-like growth factor-binding protein-3 association proteins in human serum.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1998", "authors": "Collett-Solberg PF, Nunn SE, Gibson TB, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "9709957", "url": "https://glygen.org/publication/PubMed/9709957" } ] }, { "title": "The insulin-like growth factor (IGF)binding protein 1 binding epitope on IGF-I probed by heteronuclear NMR spectroscopy and mutational analysis.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Jansson M, Andersson G, Uhlen M, Nilsson B, Kordel J", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "9733769", "url": "https://glygen.org/publication/PubMed/9733769" } ] }, { "title": "Insulin-like growth factor-binding protein 5 complexes with the acid-labile subunit. Role of the carboxyl-terminal domain.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Twigg SM, Kiefer MC, Zapf J, Baxter RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "9786878", "url": "https://glygen.org/publication/PubMed/9786878" } ] }, { "title": "Elevated levels of the IGF-binding protein protease MMP-1 in asthmatic airway smooth muscle.", "journal": "American journal of respiratory cell and molecular biology", "date": "1999", "authors": "Rajah R, Nachajon RV, Collins MH, Hakonarson H, Grunstein MM, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "9922210", "url": "https://glygen.org/publication/PubMed/9922210" } ] } ], "pathway": [ { "id": "hsa:11098", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:11098", "resource": "KEGG Pathway" }, { "id": "R-HSA-381426", "name": "Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426", "resource": "Reactome", "description": "Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)" }, { "id": "R-HSA-8957275", "name": "Post-translational protein phosphorylation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8957275", "resource": "Reactome", "description": "Post-translational protein phosphorylation" } ], "orthologs": [ { "uniprot_canonical_ac": "Q6AY61-1", "protein_name": "Serine protease 23", "gene_name": "Prss23", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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"https://www.uniprot.org/uniprot/O95084" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 207, "end_pos": 209, "annotation": "n_glycosylation_sequon" }, { "start_pos": 349, "end_pos": 351, "annotation": "n_glycosylation_sequon" }, { "start_pos": 93, "end_pos": 95, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "R-HSA-8952289", "name": "FAM20C phosphorylates FAM20C substrates", "equation": "", "summary": "Extracellular serine/threonine protein kinase FAM20C is an extracellular kinase that can phosphorylate a broad range of secreted protein. FAM20C is bound and allosterically activated by the pseudokinase FAM20A (Tagliabracchi et al. 2012, 2015, Cui et al. 2015).
Loss of function mutations in Fam20C cause Raine Syndrome, an osteosclerotic bone dysplasia (Faundes et al. 2014).", "cellular_location": "endoplasmic reticulum lumen", "input_participant_list": [ "R-ALL-8931885" ], "output_participant_list": [ "R-ALL-8931884" ], "enzyme_list": [ "Q6P988-1", "P07237-1", "O14672-1", "Q8NBP7-1", "Q8IXL6-1", "P00450-1", "P04070-1", "Q9BTY2-1", "Q96AD5-1", "Q14703-1", "Q9UM21-1", "Q15084-1", "O95084-1", "O00391-1" ], "evidence": [ { "id": "R-HSA-8952289", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8952289" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-8931884", "participant_name": "ADP [endoplasmic reticulum lumen]", "crossref": [ { "id": "C00008", "database": "COMPOUND", "url": "" }, { "id": "456216", "database": "ChEBI", "url": "" }, { "id": "000012360703", "database": "ZINC", "url": "" }, { "id": "C00008", "database": "COMPOUND", "url": "" }, { "id": "000012360703", "database": "ZINC", "url": "" }, { "id": "456216", "database": "ChEBI", "url": "" }, { "id": "456216", "database": "ChEBI", "url": "" }, { "id": "C00008", "database": "COMPOUND", "url": "" }, { "id": "000012360703", "database": "ZINC", "url": "" }, { "id": "C00008", "database": "COMPOUND", "url": "" }, { "id": "456216", "database": "ChEBI", "url": "" }, { "id": "000012360703", "database": "ZINC", "url": "" }, { "id": "C00008", "database": "COMPOUND", "url": "" }, { "id": "456216", "database": "ChEBI", "url": "" }, { "id": "000012360703", "database": "ZINC", "url": "" } ] }, { "participant_id": "R-ALL-8931885", "participant_name": "ATP [endoplasmic reticulum lumen]", "crossref": [ { "id": "30616", "database": "ChEBI", "url": "" }, { "id": "C00002", "database": "COMPOUND", "url": "" }, { "id": "000004261765", "database": "ZINC", "url": "" }, { "id": "C00002", "database": "COMPOUND", "url": "" }, { "id": "30616", "database": "ChEBI", "url": "" }, { "id": "000004261765", "database": "ZINC", "url": "" }, { "id": "C00002", "database": "COMPOUND", "url": "" }, { "id": "30616", "database": "ChEBI", "url": "" }, { "id": "000004261765", "database": "ZINC", "url": "" }, { "id": "000004261765", "database": "ZINC", "url": "" }, { "id": "C00002", "database": "COMPOUND", "url": "" }, { "id": "30616", "database": "ChEBI", "url": "" }, { "id": "30616", "database": "ChEBI", "url": "" }, { "id": "000004261765", "database": "ZINC", "url": "" }, { "id": "C00002", "database": "COMPOUND", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O00391", "gene_name": "QSOX1", "activity": [ { "ec_number": "1.8.3.2", "activity": "O2 + 2 R'C(R)SH = H2O2 + R'C(R)S-S(R)CR'.", "evidence": [ { "id": "O00391", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00391" } ] }, { "ec_number": "1.8.3.2", "activity": "", "evidence": [ { "id": "O00391", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00391" } ] } ] }, { "uniprot_ac": "O14672", "gene_name": "ADAM10", "activity": [ { "ec_number": "3.4.24.81", "activity": "Endopeptidase of broad specificity.", "evidence": [ { "id": "O14672", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14672" } ] }, { "ec_number": "3.4.24.81", "activity": "", "evidence": [ { "id": "O14672", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14672" } ] } ] }, { "uniprot_ac": "O95084", "gene_name": "PRSS23", "activity": [ { "ec_number": "3.4.21.-", "activity": "", "evidence": [ { "id": "O95084", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95084" } ] } ] }, { "uniprot_ac": "P00450", "gene_name": "CP", "activity": [ { "ec_number": "1.16.3.1", "activity": "4 Fe(2+) + 4 H(+) + O2 = 4 Fe(3+) + 2 H2O.", "evidence": [ { "id": "P00450", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00450" } ] }, { "ec_number": "1.16.3.1", "activity": "", "evidence": [ { "id": "P00450", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00450" } ] } ] }, { "uniprot_ac": "P04070", "gene_name": "PROC", "activity": [ { "ec_number": "3.4.21.69", "activity": "Degradation of blood coagulation factors Va and VIIIa.", "evidence": [ { "id": "P04070", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04070" } ] }, { "ec_number": "3.4.21.69", "activity": "", "evidence": [ { "id": "P04070", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04070" } ] } ] }, { "uniprot_ac": "P07237", "gene_name": "P4HB", "activity": [ { "ec_number": "5.3.4.1", "activity": "Catalyzes the rearrangement of -S-S- bonds in proteins.", "evidence": [ { "id": "P07237", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07237" } ] }, { "ec_number": "5.3.4.1", "activity": "", "evidence": [ { "id": "P07237", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07237" } ] } ] }, { "uniprot_ac": "Q14703", "gene_name": "MBTPS1", "activity": [ { "ec_number": "3.4.21.112", "activity": "Processes precursors containing basic and hydrophobic/aliphatic residues at P4 and P2, respectively, with a relatively relaxed acceptance of amino acids at P1 and P3.", "evidence": [ { "id": "Q14703", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14703" } ] }, { "ec_number": "3.4.21.112", "activity": "", "evidence": [ { "id": "Q14703", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14703" } ] } ] }, { "uniprot_ac": "Q15084", "gene_name": "PDIA6", "activity": [ { "ec_number": "5.3.4.1", "activity": "Catalyzes the rearrangement of -S-S- bonds in proteins.", "evidence": [ { "id": "Q15084", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15084" } ] }, { "ec_number": "5.3.4.1", "activity": "", "evidence": [ { "id": "Q15084", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15084" } ] } ] }, { "uniprot_ac": "Q6P988", "gene_name": "NOTUM", "activity": [ { "ec_number": "3.1.1.98", "activity": "[Wnt protein]-O-(9Z)-hexadecenoyl-L-serine + H2O = (9Z)-hexadecenoate + [Wnt protein]-L-serine + H(+).", "evidence": [ { "id": "Q6P988", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6P988" } ] }, { "ec_number": "3.1.1.98", "activity": "", "evidence": [ { "id": "Q6P988", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6P988" } ] } ] }, { "uniprot_ac": "Q8IXL6", "gene_name": "FAM20C", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q8IXL6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IXL6" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "Q8IXL6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IXL6" } ] } ] }, { "uniprot_ac": "Q8NBP7", "gene_name": "PCSK9", "activity": [ { "ec_number": "3.4.21.-", "activity": "", "evidence": [ { "id": "Q8NBP7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBP7" } ] } ] }, { "uniprot_ac": "Q96AD5", "gene_name": "PNPLA2", "activity": [ { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q96AD5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96AD5" } ] }, { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "Q96AD5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96AD5" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "Q96AD5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96AD5" } ] } ] }, { "uniprot_ac": "Q9BTY2", "gene_name": "FUCA2", "activity": [ { "ec_number": "3.2.1.51", "activity": "an alpha-L-fucoside + H2O = an alcohol + L-fucose.", "evidence": [ { "id": "Q9BTY2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BTY2" } ] }, { "ec_number": "3.2.1.51", "activity": "", "evidence": [ { "id": "Q9BTY2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BTY2" } ] } ] }, { "uniprot_ac": "Q9UM21", "gene_name": "MGAT4A", "activity": [ { "ec_number": "2.4.1.145", "activity": "N(4)-{beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->3)-[beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc}-L-asparaginyl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = H(+) + N(4)-{beta-D-GlcNAc-(1->2)-[beta-D-GlcNAc-(1->4)]-alpha-D-Man-(1->3)-[beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc}-L-asparaginyl-[protein] + UDP.", "evidence": [ { "id": "Q9UM21", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UM21" } ] }, { "ec_number": "2.4.1.145", "activity": "", "evidence": [ { "id": "Q9UM21", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UM21" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 93, 207 ], "o_linked_sites": [ 59, 72, 73 ], "snv_sites": [ 49, 93, 95, 107, 149, 155, 208, 209, 239, 293, 339 ], "glycation_sites": [], "phosphorylation_sites": [ 109 ], "sequon_annotation_sites": [ { "start_pos": 207, "end_pos": 209 }, { "start_pos": 349, "end_pos": 351 }, { "start_pos": 93, "end_pos": 95 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 2 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "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": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "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": 5 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 2 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "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": 12 }, { "field": "total_sites", "count": 11 } ], "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": 2 }, { "field": "total_sites", "count": 2 } ], "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": 10 }, { "field": "total_sites", "count": 9 } ], "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": 67 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }