{ "uniprot_canonical_ac": "O75907-1", "uniprot_ac": "O75907", "uniprot_id": "DGAT1_HUMAN", "mass": { "chemical_mass": 55278.0, "monoisotopic_mass": 55278.0 }, "refseq": { "ac": "NP_036211", "name": "diacylglycerol O-acyltransferase 1", "summary": "This gene encodes an multipass transmembrane protein that functions as a key metabolic enzyme. The encoded protein catalyzes the conversion of diacylglycerol and fatty acyl CoA to triacylglycerol. This enzyme can also transfer acyl CoA to retinol. Activity of this protein may be associated with obesity and other metabolic diseases. [provided by RefSeq, Jul 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036211" }, "gene_names": [ { "name": "DGAT1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75907", "id": "O75907" }, { "name": "AGRP1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75907", "id": "O75907" }, { "name": "ARAT; ARGP1; DGAT; DIAR7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036211", "id": "NP_036211" }, { "name": "DGAT1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036211", "id": "NP_036211" }, { "name": "DGAT", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75907", "id": "O75907" } ], "protein_names": [ { "name": "Diacylglycerol O-acyltransferase 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75907" }, { "name": "2.3.1.20", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75907" }, { "name": "2.3.1.76", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75907" }, { "name": "ACAT-related gene product 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75907" }, { "name": "ARAT", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75907" }, { "name": "Acyl-CoA retinol O-fatty-acyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75907" }, { "name": "Diglyceride acyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75907" }, { "name": "Retinol O-fatty-acyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75907" }, { "name": "acyl coenzyme A:cholesterol acyltransferase related gene 1; diglyceride acyltransferase; ACAT related gene product 1; acyl-CoA retinol O-fatty-acyltransferase; acyl-CoA:diacylglycerol acyltransferase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036211", "id": "NP_036211" }, { "name": "diacylglycerol O-acyltransferase 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036211", "id": "NP_036211" } ], "function": [ { "annotation": "Catalyzes the terminal and only committed step in triacylglycerol synthesis by using diacylglycerol and fatty acyl CoA as substrates (PubMed:16214399, PubMed:18768481, PubMed:28420705, PubMed:9756920, PubMed:32433611, PubMed:32433610). Highly expressed in epithelial cells of the small intestine and its activity is essential for the absorption of dietary fats (PubMed:18768481). In liver, plays a role in esterifying exogenous fatty acids to glycerol, and is required to synthesize fat for storage (PubMed:16214399). Also present in female mammary glands, where it produces fat in the milk (By similarity). May be involved in VLDL (very low density lipoprotein) assembly (PubMed:18768481). In contrast to DGAT2 it is not essential for survival (By similarity). Functions as the major acyl-CoA retinol acyltransferase (ARAT) in the skin, where it acts to maintain retinoid homeostasis and prevent retinoid toxicity leading to skin and hair disorders (PubMed:16214399). Exhibits additional acyltransferase activities, includin acyl CoA:monoacylglycerol acyltransferase (MGAT), wax monoester and wax diester synthases (By similarity). Also able to use 1-monoalkylglycerol (1-MAkG) as an acyl acceptor for the synthesis of monoalkyl-monoacylglycerol (MAMAG) (PubMed:28420705).", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907#function" }, { "database": "UniProtKB", "id": "Q9Z2A7", "url": "https://www.uniprot.org/uniprot/Q9Z2A7#function" }, { "database": "PubMed", "id": "16214399", "url": "https://glygen.org/publication/PubMed/16214399" }, { "database": "PubMed", "id": "9756920", "url": "https://glygen.org/publication/PubMed/9756920" }, { "database": "UniProtKB", "id": "Q8MK44", "url": "https://www.uniprot.org/uniprot/Q8MK44#function" }, { "database": "PubMed", "id": "28420705", "url": "https://glygen.org/publication/PubMed/28420705" }, { "database": "PubMed", "id": "18768481", "url": "https://glygen.org/publication/PubMed/18768481" }, { "database": "PubMed", "id": "32433611", "url": "https://glygen.org/publication/PubMed/32433611" }, { "database": "PubMed", "id": "32433610", "url": "https://glygen.org/publication/PubMed/32433610" } ] }, { "annotation": "Lipid droplets in Zika neuroinfection: Potential targets for intervention? Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_036211", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036211" }, { "database": "PubMed", "id": "37820117", "url": "https://glygen.org/publication/PubMed/37820117" } ] }, { "annotation": "Preferential lipolysis of DGAT1 over DGAT2 generated triacylglycerol in Huh7 hepatocytes.", "evidence": [ { "database": "RefSeq", "id": "NP_036211", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036211" }, { "database": "PubMed", "id": "37516308", "url": "https://glygen.org/publication/PubMed/37516308" } ] }, { "annotation": "Targeting DGAT1 inhibits prostate cancer cells growth by inducing autophagy flux blockage via oxidative stress.", "evidence": [ { "database": "RefSeq", "id": "NP_036211", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036211" }, { "database": "PubMed", "id": "37973951", "url": "https://glygen.org/publication/PubMed/37973951" } ] }, { "annotation": "The roles of DGAT1 and DGAT2 in human myotubes are dependent on donor patho-physiological background.", "evidence": [ { "database": "RefSeq", "id": "NP_036211", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036211" }, { "database": "PubMed", "id": "37779421", "url": "https://glygen.org/publication/PubMed/37779421" } ] }, { "annotation": "This gene encodes an multipass transmembrane protein that functions as a key metabolic enzyme. The encoded protein catalyzes the conversion of diacylglycerol and fatty acyl CoA to triacylglycerol. This enzyme can also transfer acyl CoA to retinol. Activity of this protein may be associated with obesity and other metabolic diseases. [provided by RefSeq, Jul 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_036211", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036211" } ] } ], "disease": [ { "disease_id": "DOID:0060778", "recommended_name": { "id": "DOID:0060778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060778", "name": "congenital diarrhea 7 with exudative enteropathy", "description": "A congenital diarrhea characterized by watery diarrhea, protein-losing enteropathy, patchy areas of dystrophic microvilli in the duodenum and patchy areas of villous atrophy that has_material_basis_in homozygous mutation in the DGAT1 gene on chromosome 8q24.3." }, "synonyms": [ { "id": "DOID:0060778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060778", "name": "congenital chronic diarrhoea with protein-losing enteropathy", "description": "" }, { "id": "DOID:0060778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060778", "name": "congenital diarrhoea 7 with exudative enteropathy", "description": "" }, { "id": "DOID:0060778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060778", "name": "congenital chronic diarrhea with exudative enteropathy", "description": "" }, { "id": "DOID:0060778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060778", "name": "congenital chronic diarrhea with protein-losing enteropathy", "description": "" }, { "id": "DOID:0060778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060778", "name": "congenital chronic diarrhoea with exudative enteropathy", "description": "" }, { "id": "MONDO:0014375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014375", "name": "congenital diarrhea 7 with exudative enteropathy", "description": "Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema." }, { "id": "MONDO:0014375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014375", "name": "DGAT1 congenital diarrhea", "description": "" }, { "id": "MONDO:0014375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014375", "name": "DGAT1 congenital diarrhoea", "description": "" }, { "id": "MONDO:0014375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014375", "name": "congenital chronic diarrhea with exudative enteropathy", "description": "" }, { "id": "MONDO:0014375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014375", "name": "congenital chronic diarrhea with protein-losing enteropathy", "description": "" }, { "id": "MONDO:0014375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014375", "name": "congenital chronic diarrhoea with exudative enteropathy", "description": "" }, { "id": "MONDO:0014375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014375", "name": "congenital chronic diarrhoea with protein-losing enteropathy", "description": "" }, { "id": "MONDO:0014375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014375", "name": "congenital diarrhea caused by mutation in DGAT1", "description": "" }, { "id": "MONDO:0014375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014375", "name": "congenital diarrhoea caused by mutation in DGAT1", "description": "" }, { "id": "MONDO:0014375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014375", "name": "diarrhea 7, protein-losing enteropathy type", "description": "" }, { "id": "MONDO:0014375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014375", "name": "diarrhea type 7", "description": "" }, { "id": "MONDO:0014375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014375", "name": "diarrhoea 7, protein-losing enteropathy type", "description": "" }, { "id": "MONDO:0014375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014375", "name": "diarrhoea type 7", "description": "" }, { "id": "MONDO:0014375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014375", "name": "DIAR7", "description": "" }, { "id": "MONDO:0014375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014375", "name": "diarrhea 7", "description": "" }, { "id": "MONDO:0014375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014375", "name": "diarrhoea 7", "description": "" }, { "id": "MIM:615863", "resource": "MIM", "url": "https://www.omim.org/entry/615863", "name": "Diarrhea 7, protein-losing enteropathy type", "description": "Diarrhea 7, protein-losing enteropathy type" } ], "evidence": [ { "id": "615863", "database": "MIM", "url": "https://www.omim.org/entry/615863" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 346, "end_pos": 346, "sequence_org": "L", "sequence_mut": "W", "comment": "Strongly reduced diacylglycerol O-acyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" }, { "database": "PubMed", "id": "32433610", "url": "https://glygen.org/publication/PubMed/32433610" } ] }, { "start_pos": 371, "end_pos": 371, "sequence_org": "T", "sequence_mut": "A", "comment": "Decreased diacylglycerol O-acyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" }, { "database": "PubMed", "id": "32433610", "url": "https://glygen.org/publication/PubMed/32433610" } ] }, { "start_pos": 375, "end_pos": 375, "sequence_org": "Q", "sequence_mut": "A", "comment": "Slightly decreased diacylglycerol O-acyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" }, { "database": "PubMed", "id": "32433611", "url": "https://glygen.org/publication/PubMed/32433611" } ] }, { "start_pos": 377, "end_pos": 377, "sequence_org": "W", "sequence_mut": "F", "comment": "Abolished diacylglycerol O-acyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" }, { "database": "PubMed", "id": "32433610", "url": "https://glygen.org/publication/PubMed/32433610" } ] }, { "start_pos": 378, "end_pos": 378, "sequence_org": "N", "sequence_mut": "A", "comment": "Abolished diacylglycerol O-acyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" }, { "database": "PubMed", "id": "32433611", "url": "https://glygen.org/publication/PubMed/32433611" }, { "database": "PubMed", "id": "32433610", "url": "https://glygen.org/publication/PubMed/32433610" } ] }, { "start_pos": 378, "end_pos": 378, "sequence_org": "N", "sequence_mut": "L", "comment": "Abolished diacylglycerol O-acyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" }, { "database": "PubMed", "id": "32433611", "url": "https://glygen.org/publication/PubMed/32433611" }, { "database": "PubMed", "id": "32433610", "url": "https://glygen.org/publication/PubMed/32433610" } ] }, { "start_pos": 381, "end_pos": 381, "sequence_org": "V", "sequence_mut": "A", "comment": "Does not affect diacylglycerol O-acyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" }, { "database": "PubMed", "id": "32433611", "url": "https://glygen.org/publication/PubMed/32433611" } ] }, { "start_pos": 381, "end_pos": 381, "sequence_org": "V", "sequence_mut": "W", "comment": "Decreased diacylglycerol O-acyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" }, { "database": "PubMed", "id": "32433611", "url": "https://glygen.org/publication/PubMed/32433611" } ] }, { "start_pos": 382, "end_pos": 382, "sequence_org": "H", "sequence_mut": "A", "comment": "Decreased diacylglycerol O-acyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" }, { "database": "PubMed", "id": "32433611", "url": "https://glygen.org/publication/PubMed/32433611" }, { "database": "PubMed", "id": "32433610", "url": "https://glygen.org/publication/PubMed/32433610" } ] }, { "start_pos": 385, "end_pos": 385, "sequence_org": "C", "sequence_mut": "W", "comment": "Decreased diacylglycerol O-acyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" }, { "database": "PubMed", "id": "32433611", "url": "https://glygen.org/publication/PubMed/32433611" } ] }, { "start_pos": 386, "end_pos": 386, "sequence_org": "I", "sequence_mut": "A", "comment": "Slightly decreased diacylglycerol O-acyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" }, { "database": "PubMed", "id": "32433611", "url": "https://glygen.org/publication/PubMed/32433611" } ] }, { "start_pos": 390, "end_pos": 390, "sequence_org": "Y", "sequence_mut": "A", "comment": "Decreased diacylglycerol O-acyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" }, { "database": "PubMed", "id": "32433611", "url": "https://glygen.org/publication/PubMed/32433611" }, { "database": "PubMed", "id": "32433610", "url": "https://glygen.org/publication/PubMed/32433610" } ] }, { "start_pos": 391, "end_pos": 391, "sequence_org": "K", "sequence_mut": "A", "comment": "Slightly decreased diacylglycerol O-acyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" }, { "database": "PubMed", "id": "32433611", "url": "https://glygen.org/publication/PubMed/32433611" } ] }, { "start_pos": 400, "end_pos": 400, "sequence_org": "K", "sequence_mut": "L", "comment": "Decreased diacylglycerol O-acyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" }, { "database": "PubMed", "id": "32433610", "url": "https://glygen.org/publication/PubMed/32433610" } ] }, { "start_pos": 404, "end_pos": 404, "sequence_org": "R", "sequence_mut": "A", "comment": "Does not affect diacylglycerol O-acyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" }, { "database": "PubMed", "id": "32433611", "url": "https://glygen.org/publication/PubMed/32433611" } ] }, { "start_pos": 404, "end_pos": 404, "sequence_org": "R", "sequence_mut": "L", "comment": "Decreased diacylglycerol O-acyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" }, { "database": "PubMed", "id": "32433610", "url": "https://glygen.org/publication/PubMed/32433610" } ] }, { "start_pos": 407, "end_pos": 407, "sequence_org": "V", "sequence_mut": "F", "comment": "Decreased diacylglycerol O-acyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" }, { "database": "PubMed", "id": "32433611", "url": "https://glygen.org/publication/PubMed/32433611" } ] }, { "start_pos": 411, "end_pos": 411, "sequence_org": "S", "sequence_mut": "A", "comment": "Abolished diacylglycerol O-acyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" }, { "database": "PubMed", "id": "32433611", "url": "https://glygen.org/publication/PubMed/32433611" }, { "database": "PubMed", "id": "32433610", "url": "https://glygen.org/publication/PubMed/32433610" } ] }, { "start_pos": 411, "end_pos": 411, "sequence_org": "S", "sequence_mut": "I", "comment": "Decreased diacylglycerol O-acyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" }, { "database": "PubMed", "id": "32433611", "url": "https://glygen.org/publication/PubMed/32433611" } ] }, { "start_pos": 411, "end_pos": 411, "sequence_org": "S", "sequence_mut": "W", "comment": "Abolished diacylglycerol O-acyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" }, { "database": "PubMed", "id": "32433611", "url": "https://glygen.org/publication/PubMed/32433611" }, { "database": "PubMed", "id": "32433610", "url": "https://glygen.org/publication/PubMed/32433610" } ] }, { "start_pos": 415, "end_pos": 415, "sequence_org": "H", "sequence_mut": "A", "comment": "Abolished diacylglycerol O-acyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" }, { "database": "PubMed", "id": "32433611", "url": "https://glygen.org/publication/PubMed/32433611" }, { "database": "PubMed", "id": "32433610", "url": "https://glygen.org/publication/PubMed/32433610" } ] }, { "start_pos": 416, "end_pos": 416, "sequence_org": "E", "sequence_mut": "A", "comment": "Abolished diacylglycerol O-acyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" }, { "database": "PubMed", "id": "32433610", "url": "https://glygen.org/publication/PubMed/32433610" } ] }, { "start_pos": 434, "end_pos": 434, "sequence_org": "M", "sequence_mut": "A", "comment": "Reduced diacylglycerol O-acyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" }, { "database": "PubMed", "id": "32433611", "url": "https://glygen.org/publication/PubMed/32433611" } ] }, { "start_pos": 434, "end_pos": 434, "sequence_org": "M", "sequence_mut": "I", "comment": "Reduced diacylglycerol O-acyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" }, { "database": "PubMed", "id": "32433611", "url": "https://glygen.org/publication/PubMed/32433611" } ] }, { "start_pos": 437, "end_pos": 437, "sequence_org": "Q", "sequence_mut": "A", "comment": "Reduced diacylglycerol O-acyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" }, { "database": "PubMed", "id": "32433611", "url": "https://glygen.org/publication/PubMed/32433611" } ] }, { "start_pos": 465, "end_pos": 465, "sequence_org": "Q", "sequence_mut": "A", "comment": "Reduced diacylglycerol O-acyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" }, { "database": "PubMed", "id": "32433611", "url": "https://glygen.org/publication/PubMed/32433611" } ] }, { "start_pos": 469, "end_pos": 469, "sequence_org": "V", "sequence_mut": "A", "comment": "Slightly decreased diacylglycerol O-acyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" }, { "database": "PubMed", "id": "32433611", "url": "https://glygen.org/publication/PubMed/32433611" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "95.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000185000", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185000" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "91.51", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000185000", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185000" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "92.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000185000", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185000" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "95.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000185000", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185000" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "94.84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000185000", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185000" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "93.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000185000", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185000" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "92.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000185000", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185000" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "94.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000185000", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185000" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "95.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000185000", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185000" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75907", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75907" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75907", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75907" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "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": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75907", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75907" } ], "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": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O75907", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75907" } ], "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": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O75907", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75907" } ], "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": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O75907", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75907" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "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": "O75907", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75907" } ], "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", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O75907", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75907" } ], "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": "O75907", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75907" } ], "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", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O75907", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75907" } ], "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": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O75907", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75907" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O75907", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75907" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" } ], "common_name": "Human" } ], "gene": [ { "name": "DGAT1", "url": "https://www.uniprot.org/uniprot/O75907", "locus": { "chromosome": "8", "start_pos": 144314584, "end_pos": 144326910, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000185000", "url": "https://www.ensembl.org/id/ENSG00000185000" } ] } } ], "crossref": [ { "id": "ENSG00000185000", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185000", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "2.3.1.20", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=2.3.1.20&UniProtAcc=O75907", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "CHEMBL6009", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL6009", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "DGAT1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=DGAT1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "8694", "url": "https://www.ncbi.nlm.nih.gov/gene/8694", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "2843", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2843", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O75907", "url": "https://www.ebi.ac.uk/intact/interactors/id:O75907*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR004299", "url": "https://www.ebi.ac.uk/interpro/entry/IPR004299", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR014371", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014371", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR027251", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027251", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:8694", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8694", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "604900", "url": "http://www.omim.org/entry/604900", "database": "MIM", "categories": [ "Other" ] }, { "id": "615863", "url": "http://www.omim.org/entry/615863", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75907", "url": "https://www.nextprot.org/entry/NX_O75907", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "SCLSHDS", "url": "https://omabrowser.org/oma/group/SCLSHDS/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "9612at2759", "url": "http://www.orthodb.org/?query=9612at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10408", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10408", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10408:SF7", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10408:SF7", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "6VP0", "url": "https://www.rcsb.org/structure/6VP0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6VYI", "url": "https://www.rcsb.org/structure/6VYI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6VZ1", "url": "https://www.rcsb.org/structure/6VZ1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8ESM", "url": "https://www.rcsb.org/structure/8ESM", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8ETM", "url": "https://www.rcsb.org/structure/8ETM", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF03062", "url": "http://pfam.xfam.org/family/PF03062", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75907", "url": "https://pharos.nih.gov/targets/O75907", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75907", "url": "http://purl.obolibrary.org/obo/PR_O75907", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1482883", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1482883", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-75109", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75109", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_036211", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036211", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "10868", "url": "https://www.rhea-db.org/rhea/10868", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "11488", "url": "https://www.rhea-db.org/rhea/11488", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "37911", "url": "https://www.rhea-db.org/rhea/37911", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "37915", "url": "https://www.rhea-db.org/rhea/37915", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "38071", "url": "https://www.rhea-db.org/rhea/38071", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "38163", "url": "https://www.rhea-db.org/rhea/38163", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "38167", "url": "https://www.rhea-db.org/rhea/38167", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "38171", "url": "https://www.rhea-db.org/rhea/38171", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "38175", "url": "https://www.rhea-db.org/rhea/38175", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "38211", "url": "https://www.rhea-db.org/rhea/38211", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "38219", "url": "https://www.rhea-db.org/rhea/38219", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "38307", "url": "https://www.rhea-db.org/rhea/38307", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "38379", "url": "https://www.rhea-db.org/rhea/38379", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "38435", "url": "https://www.rhea-db.org/rhea/38435", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "38439", "url": "https://www.rhea-db.org/rhea/38439", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "55296", "url": "https://www.rhea-db.org/rhea/55296", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "55340", "url": "https://www.rhea-db.org/rhea/55340", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "55344", "url": "https://www.rhea-db.org/rhea/55344", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A0A0MR74", "url": "https://www.uniprot.org/uniprot/A0A0A0MR74", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0A0MR74-1", "url": "https://www.uniprot.org/uniprot/A0A0A0MR74-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75907-1", "url": "https://www.uniprot.org/uniprot/O75907-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGDRGSSRRRRTGSRPSSHGGGGPAAAEEEVRDAAAGPDVGAAGDAPAPAPNKDGDAGVGSGHWELRCHRLQDSLFSSDSGFSNYRGILNWCVVMLILSNARLFLENLIKYGILVDPIQVVSLFLKDPYSWPAPCLVIAANVFAVAAFQVEKRLAVGALTEQAGLLLHVANLATILCFPAAVVLLVESITPVGSLLALMAHTILFLKLFSYRDVNSWCRRARAKAASAGKKASSAAAPHTVSYPDNLTYRDLYYFLFAPTLCYELNFPRSPRIRKRFLLRRILEMLFFTQLQVGLIQQWMVPTIQNSMKPFKDMDYSRIIERLLKLAVPNHLIWLIFFYWLFHSCLNAVAELMQFGDREFYRDWWNSESVTYFWQNWNIPVHKWCIRHFYKPMLRRGSSKWMARTGVFLASAFFHEYLVSVPLRMFRLWAFTGMMAQIPLAWFVGRFFQGNYGNAAVWLSLIIGQPIAVLMYVHDYYVLNYEAPAAEA", "length": 488, "header": "sp|O75907-1|DGAT1_HUMAN Isoform 1 of Diacylglycerol O-acyltransferase 1 OS=Homo sapiens OX=9606 GN=DGAT1 PE=1 SV=2 CANONICAL=O75907-1" }, "isoforms": [ { "isoform_ac": "A0A0A0MR74-1", "url": "", "sequence": { "sequence": "MGDRGSSRRRRTGSRPSSHGGGGPAAAEEEVRDAAAGPDVGAAGDAPAPAPNKDGDAGVGSGHWELRCHRLQDSLFSSDSGFSNYRGILNWCVVMLILSNARLFLENLIKYGILVDPIQVVSLFLKDPYSWPAPCLVIAANVFAVAAFQVEKRLAVGALTEQAGLLLHVANLATILCFPAAVVLLVESITPVGSLLALMAHTILFLKLFSYRDVNSWCRRARAKAAHASTGQQQVDGQDRGVPGLGLLPRVPGERPSANVPPLGVHGHDGSDPTGLVRGPLFPGQLWQRSCVAVAHHRTANSRPHVRPRLLRAQL", "length": 315, "header": "tr|A0A0A0MR74-1|A0A0A0MR74_HUMAN Computationally mapped isoform of diacylglycerol O-acyltransferase OS=Homo sapiens OX=9606 GN=DGAT1 PE=1 SV=1 CANONICAL=O75907-1" }, "locus": { "chromosome": "8", "start_pos": 144326636, "end_pos": 144316579, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000332324.5", "url": "https://www.ensembl.org/id/ENST00000332324.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000332258.5", "url": "https://www.ensembl.org/id/ENSP00000332258.5" } ] } }, { "isoform_ac": "O75907-1", "url": "", "sequence": { "sequence": "MGDRGSSRRRRTGSRPSSHGGGGPAAAEEEVRDAAAGPDVGAAGDAPAPAPNKDGDAGVGSGHWELRCHRLQDSLFSSDSGFSNYRGILNWCVVMLILSNARLFLENLIKYGILVDPIQVVSLFLKDPYSWPAPCLVIAANVFAVAAFQVEKRLAVGALTEQAGLLLHVANLATILCFPAAVVLLVESITPVGSLLALMAHTILFLKLFSYRDVNSWCRRARAKAASAGKKASSAAAPHTVSYPDNLTYRDLYYFLFAPTLCYELNFPRSPRIRKRFLLRRILEMLFFTQLQVGLIQQWMVPTIQNSMKPFKDMDYSRIIERLLKLAVPNHLIWLIFFYWLFHSCLNAVAELMQFGDREFYRDWWNSESVTYFWQNWNIPVHKWCIRHFYKPMLRRGSSKWMARTGVFLASAFFHEYLVSVPLRMFRLWAFTGMMAQIPLAWFVGRFFQGNYGNAAVWLSLIIGQPIAVLMYVHDYYVLNYEAPAAEA", "length": 488, "header": "sp|O75907-1|DGAT1_HUMAN Isoform 1 of Diacylglycerol O-acyltransferase 1 OS=Homo sapiens OX=9606 GN=DGAT1 PE=1 SV=2 CANONICAL=O75907-1" }, "locus": { "chromosome": "8", "start_pos": 144326636, "end_pos": 144316557, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000528718.6", "url": "https://www.ensembl.org/id/ENST00000528718.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000482264.1", "url": "https://www.ensembl.org/id/ENSP00000482264.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 12, "end_pos": 12, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75907", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75907" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Thr12" }, { "start_pos": 17, "end_pos": 17, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O75907", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75907" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser17" }, { "start_pos": 18, "end_pos": 18, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O75907", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75907" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser18" }, { "start_pos": 7, "end_pos": 7, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75907", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75907" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Ser7" } ], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Cloning of DGAT2, a second mammalian diacylglycerol acyltransferase, and related family members.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Cases S, Stone SJ, Zhou P, Yen E, Tow B, Lardizabal KD, Voelker T, Farese RV Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-1482883", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1482883" } ], "reference": [ { "type": "PubMed", "id": "11481335", "url": "https://glygen.org/publication/PubMed/11481335" } ] }, { "title": "Human acyl-CoA:diacylglycerol acyltransferase is a tetrameric protein.", "journal": "The Biochemical journal", "date": "2001", "authors": "Cheng D, Meegalla RL, He B, Cromley DA, Billheimer JT, Young PR", "evidence": [ { "database": "Reactome", "id": "R-HSA-75109", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75109" } ], "reference": [ { "type": "PubMed", "id": "11672446", "url": "https://glygen.org/publication/PubMed/11672446" } ] }, { "title": "Identification of acyl coenzyme A:monoacylglycerol acyltransferase 3, an intestinal specific enzyme implicated in dietary fat absorption.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Cheng D, Nelson TC, Chen J, Walker SG, Wardwell-Swanson J, Meegalla R, Taub R, Billheimer JT, Ramaker M, Feder JN", "evidence": [ { "database": "Reactome", "id": "R-HSA-75109", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75109" } ], "reference": [ { "type": "PubMed", "id": "12618427", "url": "https://glygen.org/publication/PubMed/12618427" } ] }, { "title": "Human intestinal monoacylglycerol acyltransferase: differential features in tissue expression and activity.", "journal": "American journal of physiology. Endocrinology and metabolism", "date": "2003", "authors": "Lockwood JF, Cao J, Burn P, Shi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-75109", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75109" } ], "reference": [ { "type": "PubMed", "id": "12824082", "url": "https://glygen.org/publication/PubMed/12824082" } ] }, { "title": "A novel diacylglycerol acyltransferase (DGAT2) is decreased in human psoriatic skin and increased in diabetic mice.", "journal": "Biochemical and biophysical research communications", "date": "2003", "authors": "Wakimoto K, Chiba H, Michibata H, Seishima M, Kawasaki S, Okubo K, Mitsui H, Torii H, Imai Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-1482883", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1482883" } ], "reference": [ { "type": "PubMed", "id": "14521909", "url": "https://glygen.org/publication/PubMed/14521909" } ] }, { "title": "Genomic organization of the DGAT2/MOGAT gene family in cattle (Bos taurus) and other mammals.", "journal": "Cytogenetic and genome research", "date": "2003", "authors": "Winter A, van Eckeveld M, Bininda-Emonds OR, Habermann FA, Fries R", "evidence": [ { "database": "Reactome", "id": "R-HSA-75109", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75109" } ], "reference": [ { "type": "PubMed", "id": "14970677", "url": "https://glygen.org/publication/PubMed/14970677" } ] }, { "title": "RNA interference suggests a primary role for monoacylglycerol lipase in the degradation of the endocannabinoid 2-arachidonoylglycerol.", "journal": "Molecular pharmacology", "date": "2004", "authors": "Dinh TP, Kathuria S, Piomelli D", "evidence": [ { "database": "Reactome", "id": "R-HSA-1482883", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1482883" } ], "reference": [ { "type": "PubMed", "id": "15272052", "url": "https://glygen.org/publication/PubMed/15272052" } ] }, { "title": "Identification, cloning, expression, and purification of three novel human calcium-independent phospholipase A2 family members possessing triacylglycerol lipase and acylglycerol transacylase activities.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Jenkins CM, Mancuso DJ, Yan W, Sims HF, Gibson B, Gross RW", "evidence": [ { "database": "Reactome", "id": "R-HSA-1482883", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1482883" } ], "reference": [ { "type": "PubMed", "id": "15364929", "url": "https://glygen.org/publication/PubMed/15364929" } ] }, { "title": "Identification of two novel human acyl-CoA wax alcohol acyltransferases: members of the diacylglycerol acyltransferase 2 (DGAT2) gene superfamily.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Turkish AR, Henneberry AL, Cromley D, Padamsee M, Oelkers P, Bazzi H, Christiano AM, Billheimer JT, Sturley SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-1482883", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1482883" } ], "reference": [ { "type": "PubMed", "id": "15671038", "url": "https://glygen.org/publication/PubMed/15671038" } ] }, { "title": "Human and murine glycerol kinase: influence of exon 18 alternative splicing on function.", "journal": "Biochemical and biophysical research communications", "date": "2005", "authors": "Ohira RH, Dipple KM, Zhang YH, McCabe ER", "evidence": [ { "database": "Reactome", "id": "R-HSA-75109", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75109" } ], "reference": [ { "type": "PubMed", "id": "15845384", "url": "https://glygen.org/publication/PubMed/15845384" } ] }, { "title": "A human skin multifunctional O-acyltransferase that catalyzes the synthesis of acylglycerols, waxes, and retinyl esters.", "journal": "Journal of lipid research", "date": "2005", "authors": "Yen CL, Brown CH 4th, Monetti M, Farese RV Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-1482883", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1482883" } ], "reference": [ { "type": "PubMed", "id": "16106050", "url": "https://glygen.org/publication/PubMed/16106050" } ] }, { "title": "Acyl coenzyme A dependent retinol esterification by acyl coenzyme A: diacylglycerol acyltransferase 1.", "journal": "Biochimica et biophysica acta", "date": "2005-10-15", "authors": "Orland Michael D, Anwar Kamran, Cromley Debra, Chu Ching-Hsuen, Chen Luping, Billheimer Jeffrey T, Hussain M Mahmood, Cheng Dong", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" } ], "reference": [ { "type": "PubMed", "id": "16214399", "url": "https://glygen.org/publication/PubMed/16214399" } ] }, { "title": "Three mammalian lipins act as phosphatidate phosphatases with distinct tissue expression patterns.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Donkor J, Sariahmetoglu M, Dewald J, Brindley DN, Reue K", "evidence": [ { "database": "Reactome", "id": "R-HSA-75109", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75109" } ], "reference": [ { "type": "PubMed", "id": "17158099", "url": "https://glygen.org/publication/PubMed/17158099" } ] }, { "title": "AGPAT6 is a novel microsomal glycerol-3-phosphate acyltransferase.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Chen YQ, Kuo MS, Li S, Bui HH, Peake DA, Sanders PE, Thibodeaux SJ, Chu S, Qian YW, Zhao Y, Bredt DS, Moller DE, Konrad RJ, Beigneux AP, Young SG, Cao G", "evidence": [ { "database": "Reactome", "id": "R-HSA-75109", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75109" } ], "reference": [ { "type": "PubMed", "id": "18238778", "url": "https://glygen.org/publication/PubMed/18238778" } ] }, { "title": "Full mass spectrometric characterization of human monoacylglycerol lipase generated by large-scale expression and single-step purification.", "journal": "Journal of proteome research", "date": "2008", "authors": "Zvonok N, Williams J, Johnston M, Pandarinathan L, Janero DR, Li J, Krishnan SC, Makriyannis A", "evidence": [ { "database": "Reactome", "id": "R-HSA-1482883", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1482883" } ], "reference": [ { "type": "PubMed", "id": "18452279", "url": "https://glygen.org/publication/PubMed/18452279" } ] }, { "title": "Temporal and spatial regulation of the phosphatidate phosphatases lipin 1 and 2.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Grimsey N, Han GS, O'Hara L, Rochford JJ, Carman GM, Siniossoglou S", "evidence": [ { "database": "Reactome", "id": "R-HSA-75109", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75109" } ], "reference": [ { "type": "PubMed", "id": "18694939", "url": "https://glygen.org/publication/PubMed/18694939" } ] }, { "title": "Acyl-CoA:lysophospholipid acyltransferases.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Shindou H, Shimizu T", "evidence": [ { "database": "Reactome", "id": "R-HSA-75109", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75109" } ], "reference": [ { "type": "PubMed", "id": "18718904", "url": "https://glygen.org/publication/PubMed/18718904" } ] }, { "title": "Acylation of acylglycerols by acyl coenzyme A:diacylglycerol acyltransferase 1 (DGAT1). Functional importance of DGAT1 in the intestinal fat absorption.", "journal": "The Journal of biological chemistry", "date": "2008-10-31", "authors": "Cheng Dong, Iqbal Jahangir, Devenny James, Chu Ching-Hsuen, Chen Luping, Dong Jessica, Seethala Ramakrishna, Keim William J, Azzara Anthony V, Lawrence R Michael, Pelleymounter Mary Ann, Hussain M Mahmood", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" } ], "reference": [ { "type": "PubMed", "id": "18768481", "url": "https://glygen.org/publication/PubMed/18768481" } ] }, { "title": "Biochemistry, physiology, and genetics of GPAT, AGPAT, and lipin enzymes in triglyceride synthesis.", "journal": "American journal of physiology. Endocrinology and metabolism", "date": "2009", "authors": "Takeuchi K, Reue K", "evidence": [ { "database": "Reactome", "id": "R-HSA-75109", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75109" } ], "reference": [ { "type": "PubMed", "id": "19336658", "url": "https://glygen.org/publication/PubMed/19336658" } ] }, { "title": "Crystal structure of the human monoacylglycerol lipase, a key actor in endocannabinoid signaling.", "journal": "Chembiochem : a European journal of chemical biology", "date": "2010", "authors": "Labar G, Bauvois C, Borel F, Ferrer JL, Wouters J, Lambert DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1482883", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1482883" } ], "reference": [ { "type": "PubMed", "id": "19957260", "url": "https://glygen.org/publication/PubMed/19957260" } ] }, { "title": "Structural basis for human monoglyceride lipase inhibition.", "journal": "Journal of molecular biology", "date": "2010", "authors": "Bertrand T, Auge F, Houtmann J, Rak A, Vallee F, Mikol V, Berne PF, Michot N, Cheuret D, Hoornaert C, Mathieu M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1482883", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1482883" } ], "reference": [ { "type": "PubMed", "id": "19962385", "url": "https://glygen.org/publication/PubMed/19962385" } ] }, { "title": "A sequence variation (I148M) in PNPLA3 associated with nonalcoholic fatty liver disease disrupts triglyceride hydrolysis.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "He S, McPhaul C, Li JZ, Garuti R, Kinch L, Grishin NV, Cohen JC, Hobbs HH", "evidence": [ { "database": "Reactome", "id": "R-HSA-1482883", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1482883" } ], "reference": [ { "type": "PubMed", "id": "20034933", "url": "https://glygen.org/publication/PubMed/20034933" } ] }, { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "O75907", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75907" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] }, { "title": "Identification of the gene encoding alkylglycerol monooxygenase defines a third class of tetrahydrobiopterin-dependent enzymes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Watschinger K, Keller MA, Golderer G, Hermann M, Maglione M, Sarg B, Lindner HH, Hermetter A, Werner-Felmayer G, Konrat R, Hulo N, Werner ER", "evidence": [ { "database": "Reactome", "id": "R-HSA-75109", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75109" } ], "reference": [ { "type": "PubMed", "id": "20643956", "url": "https://glygen.org/publication/PubMed/20643956" } ] }, { "title": "Pnpla3/Adiponutrin deficiency in mice does not contribute to fatty liver disease or metabolic syndrome.", "journal": "Journal of lipid research", "date": "2011", "authors": "Basantani MK, Sitnick MT, Cai L, Brenner DS, Gardner NP, Li JZ, Schoiswohl G, Yang K, Kumari M, Gross RW, Zechner R, Kershaw EE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1482883", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1482883" } ], "reference": [ { "type": "PubMed", "id": "21068004", "url": "https://glygen.org/publication/PubMed/21068004" } ] }, { "title": "DGAT1 mutation is linked to a congenital diarrheal disorder.", "journal": "J. Clin. Invest.", "date": "2012", "authors": "Haas Joel T, Winter Harland S, Lim Elaine, Kirby Andrew, Blumenstiel Brendan, DeFelice Matthew, Gabriel Stacey, Jalas Chaim, Branski David, Grueter Carrie A, Toporovski Mauro S, Walther Tobias C, Daly Mark J, Farese Robert V", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" } ], "reference": [ { "type": "PubMed", "id": "23114594", "url": "https://glygen.org/publication/PubMed/23114594" } ] }, { "title": "Proteome profiling of human neutrophil granule subsets, secretory vesicles, and cell membrane: correlation with transcriptome profiling of neutrophil precursors.", "journal": "Journal of leukocyte biology", "date": "2013", "authors": "Rorvig S, Ostergaard O, Heegaard NH, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "23650620", "url": "https://glygen.org/publication/PubMed/23650620" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" }, { "database": "iPTMnet", "id": "O75907", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75907" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Monoacylglycerol O-acyltransferase 1 is regulated by peroxisome proliferator-activated receptor gamma in human hepatocytes and increases lipid accumulation.", "journal": "Biochemical and biophysical research communications", "date": "2015", "authors": "Yu JH, Lee YJ, Kim HJ, Choi H, Choi Y, Seok JW, Kim JW", "evidence": [ { "database": "Reactome", "id": "R-HSA-75109", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75109" } ], "reference": [ { "type": "PubMed", "id": "25838202", "url": "https://glygen.org/publication/PubMed/25838202" } ] }, { "title": "Synthesis of neutral ether lipid monoalkyl-diacylglycerol by lipid acyltransferases.", "journal": "Journal of lipid research", "date": "2017-06", "authors": "Ma Zhengping, Onorato Joelle M, Chen Luping, Nelson David W, Yen Chi-Liang Eric, Cheng Dong", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" } ], "reference": [ { "type": "PubMed", "id": "28420705", "url": "https://glygen.org/publication/PubMed/28420705" } ] }, { "title": "Autozygome and high throughput confirmation of disease genes candidacy.", "journal": "Genetics in medicine : official journal of the American College of Medical Genetics", "date": "2019", "authors": "Maddirevula S, Alzahrani F, Al-Owain M, Al Muhaizea MA, Kayyali HR, AlHashem A, Rahbeeni Z, Al-Otaibi M, Alzaidan HI, Balobaid A, El Khashab HY, Bubshait DK, Faden M, Yamani SA, Dabbagh O, Al-Mureikhi M, Jasser AA, Alsaif HS, Alluhaydan I, Seidahmed MZ, Alabbasi BH, Almogarri I, Kurdi W, Akleh H, Qari A, Al Tala SM, Alhomaidi S, Kentab AY, Salih MA, Chedrawi A, Alameer S, Tabarki B, Shamseldin HE, Patel N, Ibrahim N, Abdulwahab F, Samira M, Goljan E, Abouelhoda M, Meyer BF, Hashem M, Shaheen R, AlShahwan S, Alfadhel M, Ben-Omran T, Al-Qattan MM, Monies D, Alkuraya FS", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" } ], "reference": [ { "type": "PubMed", "id": "30237576", "url": "https://glygen.org/publication/PubMed/30237576" } ] }, { "title": "Structure and mechanism of human diacylglycerol O-acyltransferase 1.", "journal": "Nature", "date": "2020", "authors": "Wang L, Qian H, Nian Y, Han Y, Ren Z, Zhang H, Hu L, Prasad BVV, Laganowsky A, Yan N, Zhou M", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" } ], "reference": [ { "type": "PubMed", "id": "32433610", "url": "https://glygen.org/publication/PubMed/32433610" } ] }, { "title": "Structure and catalytic mechanism of a human triacylglycerol-synthesis enzyme.", "journal": "Nature", "date": "2020", "authors": "Sui X, Wang K, Gluchowski NL, Elliott SD, Liao M, Walther TC, Farese RV Jr", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" } ], "reference": [ { "type": "PubMed", "id": "32433611", "url": "https://glygen.org/publication/PubMed/32433611" } ] }, { "title": "Preferential lipolysis of DGAT1 over DGAT2 generated triacylglycerol in Huh7 hepatocytes.", "journal": "Biochimica et biophysica acta. Molecular and cell biology of lipids", "date": "2023-10", "authors": "Selvaraj Rajakumar, Zehnder Sarah V, Watts Russell, Lian Jihong, Das Chinmayee, Nelson Randal, Lehner Richard", "evidence": [ { "database": "RefSeq", "id": "NP_036211", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036211" } ], "reference": [ { "type": "PubMed", "id": "37516308", "url": "https://glygen.org/publication/PubMed/37516308" } ] }, { "title": "The roles of DGAT1 and DGAT2 in human myotubes are dependent on donor patho-physiological background.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2023-11", "authors": "Irshad Zehra, Lund Jenny, Sillars Anne, L\u00f8vsletten Nils Gunnar, Gharanei Seley, Salt Ian P, Freeman Dilys J, Gill Jason M R, Thoresen G Hege, Rustan Arild C, Zammit Victor A", "evidence": [ { "database": "RefSeq", "id": "NP_036211", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036211" } ], "reference": [ { "type": "PubMed", "id": "37779421", "url": "https://glygen.org/publication/PubMed/37779421" } ] }, { "title": "Lipid droplets in Zika neuroinfection: Potential targets for intervention?", "journal": "Memorias do Instituto Oswaldo Cruz", "date": "2023", "authors": "Dias Suelen Silva Gomes, Cunha-Fernandes Tamires, Soares Vinicius Cardoso, de Almeida Cec\u00edlia Jg, Bozza Patricia T", "evidence": [ { "database": "RefSeq", "id": "NP_036211", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036211" } ], "reference": [ { "type": "PubMed", "id": "37820117", "url": "https://glygen.org/publication/PubMed/37820117" } ] }, { "title": "Targeting DGAT1 inhibits prostate cancer cells growth by inducing autophagy flux blockage via oxidative stress.", "journal": "Oncogene", "date": "2024-01", "authors": "Cui Haiying, Wang Yao, Zhou Tong, Qu Limei, Zhang Xiaoling, Wang Yingdi, Han Mingyue, Yang Shuo, Ren Xinhua, Wang Guixia, Gang Xiaokun", "evidence": [ { "database": "RefSeq", "id": "NP_036211", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036211" } ], "reference": [ { "type": "PubMed", "id": "37973951", "url": "https://glygen.org/publication/PubMed/37973951" } ] }, { "title": "Targeting of proteins to granule subsets is determined by timing and not by sorting: The specific granule protein NGAL is localized to azurophil granules when expressed in HL-60 cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Le Cabec V, Cowland JB, Calafat J, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "8692836", "url": "https://glygen.org/publication/PubMed/8692836" } ] }, { "title": "Characterization of two human genes encoding acyl coenzyme A:cholesterol acyltransferase-related enzymes.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Oelkers P, Behari A, Cromley D, Billheimer JT, Sturley SL", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" }, { "database": "Reactome", "id": "R-HSA-1482883", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1482883" } ], "reference": [ { "type": "PubMed", "id": "9756920", "url": "https://glygen.org/publication/PubMed/9756920" } ] } ], "pathway": [ { "id": "hsa:8694", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8694", "resource": "KEGG Pathway" }, { "id": "R-HSA-1482883", "name": "Acyl chain remodeling of DAG and TAG", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1482883", "resource": "Reactome", "description": "Acyl chain remodeling of DAG and TAG" }, { "id": "R-HSA-6798695", "name": "Neutrophil degranulation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "resource": "Reactome", "description": "Neutrophil degranulation" }, { "id": "R-HSA-75109", "name": "Triglyceride biosynthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75109", "resource": "Reactome", "description": "Triglyceride biosynthesis" } ], "orthologs": [ { "uniprot_canonical_ac": "Q960U8-1", "protein_name": "O-acyltransferase", "gene_name": "mdy", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MTTNKDPQDKEPGKAEQPTKNSGSSGVGIMKRLRRSASATEHNLSSLRNRKSTQNLFDQHGNPIDLRQYRKVLDKDENGNGTNGSEKKLRYRRTQSVTRAEEISNKEEKQRRAQPGRPIHRPRDSLFSWSSGFTNFSGLVNWGFLLLCIGGLRLGLENLLKYGIRINPLDWFFFISGHNEGEGHNALILSIYSLVHISLCLAVEKGLAMEIIAEGLGLFIQIVNIVVLVCLPVVTIHLKGHAFSLMGASTVCFFYSVLFLKLWSYVQTNMWCRQTYYQKNPRERRPSITLAELKKGVLNGGEEDEDVSKLVQYPDNLTYKDLLYFLCAPTLCYELNFPRTSRVRKRFLLKRLLEVVIGVNVVMALFQQWIIPSVRNSLIPFSNMDVALATERLLKLALPNHLCWLCFFYLMFHSFLNAVGELLNFADRNFYCDWWNANNIDTFWRTWNMPVHRWCVRHLYIPVVQMGYSSRQASTIVFLFSAVFHEYLVSVPLQIYKIWAFMGMMGQIPLSAISKSIEKKLGPRMGNIIVWASIILGQPLCIMAYYHDYVVQHFKNSLNGTDYSS", "length": 565 }, "evidence": [ { "id": "O75907", "url": "https://omabrowser.org/oma/group/O75907/", "database": "OMA" } ], "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "Q9ERM3-1", "protein_name": "Diacylglycerol O-acyltransferase 1", "gene_name": "Dgat1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGDRGGAGSSRRRRTGSRVSVQGGSGPKVEEDEVREAAVSPDLGAGGDAPAPAPAPAHTRDKDRQTSVGDGHWELRCHRLQDSLFSSDSGFSNYRGILNWCVVMLILSNARLSLENLIKYGILVDPIQVVSLFLKDPYSWPAPCLIIASNIFIVATFQIEKRLSVGALTEQMGLLLHVVNLATIICFPAAVALLVESITPVGSLFALASYSIIFLKLSSYRDVNLWCRQRRVKAKAVSAGKKVSGAAAQNTVSYPDNLTYRDLYYFIFAPTLCYELNFPRSPRIRKRFLLRRVLEMLFFTQLQVGLIQQWMVPTIQNSMKPFKDMDYSRIIERLLKLAVPNHLIWLIFFYWLFHSCLNAVAELLQFGDREFYRDWWNAESVTYFWQNWNIPVHKWCIRHFYKPMLRLGSNKWMARTGVFWASAFFHEYLVSIPLRMFRLWAFTAMMAQVPLAWIVNRFFQGNYGNAAVWVTLIIGQPVAVLMYVHDYYVLNYDAPVGA", "length": 498 }, "evidence": [ { "id": "45925351", "url": "http://www.informatics.jax.org/homology/45925351", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9Z2A7-1", "protein_name": "Diacylglycerol O-acyltransferase 1", "gene_name": "Dgat1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MGDRGGAGSSRRRRTGSRVSVQGGSGPKVEEDEVRDAAVSPDLGAGGDAPAPAPAPAHTRDKDGRTSVGDGYWDLRCHRLQDSLFSSDSGFSNYRGILNWCVVMLILSNARLFLENLIKYGILVDPIQVVSLFLKDPYSWPAPCVIIASNIFVVAAFQIEKRLAVGALTEQMGLLLHVVNLATIICFPAAVALLVESITPVGSVFALASYSIMFLKLYSYRDVNLWCRQRRVKAKAVSTGKKVSGAAAQQAVSYPDNLTYRDLYYFIFAPTLCYELNFPRSPRIRKRFLLRRVLEMLFFTQLQVGLIQQWMVPTIQNSMKPFKDMDYSRIIERLLKLAVPNHLIWLIFFYWFFHSCLNAVAELLQFGDREFYRDWWNAESVTYFWQNWNIPVHKWCIRHFYKPMLRHGSSKWVARTGVFLTSAFFHEYLVSVPLRMFRLWAFTAMMAQVPLAWIVGRFFQGNYGNAAVWVTLIIGQPVAVLMYVHDYYVLNYDAPVGV", "length": 498 }, "evidence": [ { "id": "45925351", "url": "http://www.informatics.jax.org/homology/45925351", "database": "MGI" }, { "id": "O75907", "url": "https://omabrowser.org/oma/group/O75907/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 8, "go_terms": [ { "name": "diacylglycerol metabolic process", "id": "GO:0046339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046339", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" } ], "pmid": "" }, { "name": "triglyceride metabolic process", "id": "GO:0006641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006641", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" } ], "pmid": "" }, { "name": "very-low-density lipoprotein particle assembly", "id": "GO:0034379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034379", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" } ], "pmid": "" }, { "name": "fatty acid homeostasis", "id": "GO:0055089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055089", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" } ], "pmid": "" }, { "name": "long-chain fatty-acyl-CoA metabolic process", "id": "GO:0035336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035336", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" } ], "pmid": "" }, { "name": "lipid storage", "id": "GO:0019915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019915", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" } ], "pmid": "" }, { "name": "triglyceride biosynthetic process", "id": "GO:0019432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019432", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" } ], "pmid": "" }, { "name": "monoacylglycerol biosynthetic process", "id": "GO:0006640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006640", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" } ], "pmid": "" }, { "name": "specific granule membrane", "id": "GO:0035579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035579", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 6, "go_terms": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" } ], "pmid": "" }, { "name": "diacylglycerol O-acyltransferase activity", "id": "GO:0004144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004144", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" } ], "pmid": "" }, { "name": "acyltransferase activity", "id": "GO:0016746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016746", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" } ], "pmid": "" }, { "name": "2-acylglycerol O-acyltransferase activity", "id": "GO:0003846", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003846", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" } ], "pmid": "" }, { "name": "retinol O-fatty-acyltransferase activity", "id": "GO:0050252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050252", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" } ], "pmid": "" }, { "name": "O-acyltransferase activity", "id": "GO:0008374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008374", "evidence": [ { "database": "UniProtKB", "id": "O75907", "url": "https://www.uniprot.org/uniprot/O75907" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 246, "end_pos": 248, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "10868", "name": "", "equation": "a 1,2-diacyl-sn-glycerol + an acyl-CoA = a triacyl-sn-glycerol + CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5FVP8-1", "Q9ERM3-1", "O75907-1", "Q96PD7-1", "Q86VF5-1", "Q3SYC2-1", "Q96MH6-1", "Q9Z2A7-1", "Q9DCV3-1", "Q9D850-1", "Q80W94-1", "Q08650-1", "Q54GC1-1", "Q55BH9-1" ], "evidence": [ { "id": "10868", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/10868" } ] }, { "id": "11488", "name": "", "equation": "all-trans-retinol + an acyl-CoA = an all-trans-retinyl ester + CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5FVP8-1", "Q9ERM3-1", "Q6E213-1", "O75907-1", "Q96PD7-1", "Q6E1M8-1", "Q9Z2A7-1", "Q9DCV3-1", "Q54GC1-1", "Q55BH9-1" ], "evidence": [ { "id": "11488", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/11488" } ] }, { "id": "37911", "name": "", "equation": "(9Z)-octadecenoyl-CoA + 2-(9Z-octadecenoyl)-glycerol = 1,2-di-(9Z-octadecenoyl)-sn-glycerol + CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5FVP8-1", "Q9ERM3-1", "A0A0G2K7Z7-1", "O75907-1", "Q96PD7-1", "Q86VF5-1", "Q9Z2A7-1", "Q9DCV3-1", "Q91ZV4-1", "Q54GC1-1", "Q55BH9-1" ], "evidence": [ { "id": "37911", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/37911" } ] }, { "id": "37915", "name": "", "equation": "(9Z)-octadecenoyl-CoA + 1-(9Z-octadecenoyl)-glycerol = 1,2-di-(9Z-octadecenoyl)-glycerol + CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5FVP8-1", "Q9ERM3-1", "A0A0G2K7Z7-1", "Q6E213-1", "O75907-1", "Q6ZPD8-1", "Q96PD7-1", "Q3SYC2-1", "Q96PD6-1", "Q6E1M8-1", "Q80W94-1", "Q9Z2A7-1", "Q9DCV3-1", "Q91ZV4-1", "Q54GC1-1", "Q55BH9-1" ], "evidence": [ { "id": "37915", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/37915" } ] }, { "id": "38071", "name": "", "equation": "2-(9Z-octadecenoyl)-glycerol + hexadecanoyl-CoA = 1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycerol + CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5FVP8-1", "Q9ERM3-1", "A0A0G2K7Z7-1", "Q6E213-1", "O75907-1", "Q96PD7-1", "Q86VF5-1", "Q6E1M8-1", "Q9Z2A7-1", "Q9DCV3-1", "Q91ZV4-1", "Q54GC1-1", "Q55BH9-1" ], "evidence": [ { "id": "38071", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/38071" } ] }, { "id": "38163", "name": "", "equation": "1,2-di-(9Z-octadecenoyl)-sn-glycerol + hexadecanoyl-CoA = 1,2-di-(9Z)-octadecenoyl-3-hexadecanoyl-sn-glycerol + CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5FVP8-1", "Q9ERM3-1", "Q6E213-1", "O75907-1", "Q96PD7-1", "Q6E1M8-1", "Q9Z2A7-1", "Q9DCV3-1", "Q54GC1-1", "Q55BH9-1" ], "evidence": [ { "id": "38163", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/38163" } ] }, { "id": "38167", "name": "", "equation": "hexadecan-1-ol + hexadecanoyl-CoA = CoA + hexadecanyl hexadecanoate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9ERM3-1", "Q58HT5-1", "Q6E213-1", "O75907-1", "A2ADU9-1", "Q6E1M8-1", "Q9Z2A7-1", "Q55BH9-1" ], "evidence": [ { "id": "38167", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/38167" } ] }, { "id": "38171", "name": "", "equation": "hexadecane-1,2-diol + hexadecanoyl-CoA = 2-hydroxyhexadecyl hexadecanoate + CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9ERM3-1", "A0A0G2K7Z7-1", "Q6E213-1", "O75907-1", "Q6E1M8-1", "Q9Z2A7-1", "Q91ZV4-1", "Q55BH9-1" ], "evidence": [ { "id": "38171", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/38171" } ] }, { "id": "38175", "name": "", "equation": "all-trans-retinol + hexadecanoyl-CoA = all-trans-retinyl hexadecanoate + CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5FVP8-1", "Q9ERM3-1", "Q6E213-1", "O75907-1", "Q96PD7-1", "Q86VF5-1", "Q6E1M8-1", "Q9Z2A7-1", "Q9DCV3-1", "Q54GC1-1", "Q55BH9-1" ], "evidence": [ { "id": "38175", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/38175" } ] }, { "id": "38211", "name": "", "equation": "hexadecane-1,2-diol + 2 hexadecanoyl-CoA = 1,2-O,O-dihexadecanoyl-1,2-hexadecanediol + 2 CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9ERM3-1", "O75907-1", "Q9Z2A7-1", "Q55BH9-1" ], "evidence": [ { "id": "38211", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/38211" } ] }, { "id": "38219", "name": "", "equation": "(9Z)-octadecenoyl-CoA + 1,2-di-(9Z-octadecenoyl)-sn-glycerol = 1,2,3-tri-(9Z-octadecenoyl)-glycerol + CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5FVP8-1", "Q9ERM3-1", "Q58HT5-1", "Q6E213-1", "Q6ZPD8-1", "O75907-1", "Q96PD7-1", "Q3SYC2-1", "Q86VF5-1", "Q96MH6-1", "A2ADU9-1", "Q6E1M8-1", "A2ADU8-1", "Q80W94-1", "Q9Z2A7-1", "Q9DCV3-1", "Q9D850-1", "Q54GC1-1", "Q55BH9-1" ], "evidence": [ { "id": "38219", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/38219" } ] }, { "id": "38307", "name": "", "equation": "(9Z)-octadecenoyl-CoA + 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol = 1-octadecanoyl-2-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-3-(9Z)-octadecenoyl-sn-glycerol + CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9ERM3-1", "O75907-1", "Q9Z2A7-1", "Q55BH9-1" ], "evidence": [ { "id": "38307", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/38307" } ] }, { "id": "38379", "name": "", "equation": "(9Z)-octadecenoate + 1,2-di-(9Z-octadecenoyl)-glycerol + H(+) = 1,2,3-tri-(9Z-octadecenoyl)-glycerol + H2O", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P15304-1", "P0C548-1", "Q9ERM3-1", "O75907-1", "Q05469-1", "P41247-1", "Q96AD5-1", "P54310-1", "Q9Z2A7-1", "Q8BJ56-1", "Q55BH9-1" ], "evidence": [ { "id": "38379", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/38379" } ] }, { "id": "38435", "name": "", "equation": "(9Z)-octadecenoyl-CoA + 1,3-di-(9Z-octadecenoyl)-glycerol = 1,2,3-tri-(9Z-octadecenoyl)-glycerol + CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5FVP8-1", "Q9ERM3-1", "O75907-1", "Q96PD7-1", "Q9Z2A7-1", "Q9DCV3-1", "Q54GC1-1", "Q55BH9-1" ], "evidence": [ { "id": "38435", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/38435" } ] }, { "id": "38439", "name": "", "equation": "(9Z)-octadecenoyl-CoA + 2,3-di-(9Z)-octadecenoyl-sn-glycerol = 1,2,3-tri-(9Z-octadecenoyl)-glycerol + CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5FVP8-1", "Q9ERM3-1", "O75907-1", "Q96PD7-1", "Q9Z2A7-1", "Q9DCV3-1", "Q54GC1-1", "Q55BH9-1" ], "evidence": [ { "id": "38439", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/38439" } ] }, { "id": "55296", "name": "", "equation": "13-cis-retinol + hexadecanoyl-CoA = 13-cis-retinyl hexadecanoate + CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9ERM3-1", "O75907-1", "Q9Z2A7-1", "Q55BH9-1" ], "evidence": [ { "id": "55296", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/55296" } ] }, { "id": "55340", "name": "", "equation": "(9Z)-octadecenoyl-CoA + 1-O-(9Z-octadecenyl)-glycerol = 1-O-(9Z-octadecyl)-3-(9Z-octadecenoyl)-glycerol + CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5FVP8-1", "Q9ERM3-1", "Q6E213-1", "O75907-1", "Q6ZPD8-1", "Q96PD7-1", "Q3SYC2-1", "Q86VF5-1", "Q6E1M8-1", "Q80W94-1", "Q9Z2A7-1", "Q9DCV3-1", "Q54GC1-1", "Q55BH9-1" ], "evidence": [ { "id": "55340", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/55340" } ] }, { "id": "55344", "name": "", "equation": "(9Z)-octadecenoyl-CoA + 1-O-(9Z-octadecyl)-3-(9Z-octadecenoyl)-glycerol = 1-O-(9Z-octadecenyl)-2,3-di-(9Z-octadecenoyl)glycerol + CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9ERM3-1", "O75907-1", "Q3SYC2-1", "Q86VF5-1", "Q80W94-1", "Q9Z2A7-1", "Q55BH9-1" ], "evidence": [ { "id": "55344", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/55344" } ] }, { "id": "R-HSA-1482889", "name": "DAG is acylated to TAG by DGAT1/2", "equation": "", "summary": "At the endoplasmic reticulum (ER) membrane, diacylglycerol (DAG) is acylated and forms triacylglycerol (TAG) by the action of diacylglycerol O-acyltransferase 1 (DGAT1) tetramer or by diacylglycerol O-acyltransferase 2 (DGAT2) (Wakimoto et al. 2003, Oelkers et al. 1998, Cases et al. 2001).", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q96PD7-1", "O75907-1" ], "evidence": [ { "id": "R-HSA-1482889", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1482889" } ] }, { "id": "R-HSA-6799350", "name": "Exocytosis of specific granule membrane proteins", "equation": "", "summary": "Secondary (specific) granules are peroxidase-negative and rich in antimicrobial substances (Joiner et al. 1989, Rorvig et al. 2012). They are more irregular and elongated in form than azurophil granules (Bainton et al. 1971). This may reflect volume adjustment in azurophil granules, which are known to proteolytically process a significant fraction of the proteins that are targeted to them, while little or no processing and therefore no increase in osmotic activity due to proteolysis has been observed in secondary granules (Borregaard & Cowland 1997). Secondary and tertiary granules have overlapping contents but can be discriminated by their intrinsic buoyant densities when centrifuged on gradient media (Kjeldsen et al. 1994).", "cellular_location": "plasma membrane, specific granule membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q13393-1", "P61225-1", "O15120-1", "Q9NPA2-1", "P62834-1", "P00749-1", "O14672-1", "P78325-1", "P43353-1", "Q8TF62-1", "P98196-1", "Q9Y2Q0-1", "Q12913-1", "Q13303-1", "O15121-1", "O75907-1", "O14975-1", "Q5T4S7-1", "Q10588-1", "P04839-1", "Q68CP4-1", "P23467-1", "P30519-1", "O94804-1" ], "evidence": [ { "id": "R-HSA-6799350", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6799350" } ] }, { "id": "R-HSA-75900", "name": "1,2-diacyl-glycerol + acyl-CoA => triacylglycerol + CoASH [DGAT1]", "equation": "", "summary": "Tetrameric diacylglycerol O-acyltransferase 1 (DGAT1) associated with the endoplasmic reticulum membrane catalyzes the reaction of 1,2-diacyl-glycerol and acyl-CoA to form triacylglycerol + CoASH (Cheng et al. 2001).", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75907-1" ], "evidence": [ { "id": "R-HSA-75900", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75900" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "A0A0G2K7Z7", "gene_name": "Mogat1", "activity": [ { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "A0A0G2K7Z7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A0G2K7Z7" } ] }, { "ec_number": "2.3.1.22", "activity": "a 2-acylglycerol + an acyl-CoA = a 1,2-diacylglycerol + CoA.", "evidence": [ { "id": "A0A0G2K7Z7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A0G2K7Z7" } ] }, { "ec_number": "2.3.1.22", "activity": "", "evidence": [ { "id": "A0A0G2K7Z7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A0G2K7Z7" } ] } ] }, { "uniprot_ac": "A2ADU8", "gene_name": "Dgat2l6", "activity": [ { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "A2ADU8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A2ADU8" } ] } ] }, { "uniprot_ac": "A2ADU9", "gene_name": "Awat1", "activity": [ { "ec_number": "2.3.1.75", "activity": "a fatty acyl-CoA + a long chain fatty alcohol = a wax ester + CoA.", "evidence": [ { "id": "A2ADU9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A2ADU9" } ] }, { "ec_number": "2.3.1.75", "activity": "", "evidence": [ { "id": "A2ADU9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A2ADU9" } ] } ] }, { "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": "O14975", "gene_name": "SLC27A2", "activity": [ { "ec_number": "6.2.1.3", "activity": "a long-chain fatty acid + ATP + CoA = a long-chain fatty acyl-CoA + AMP + diphosphate.", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] }, { "ec_number": "6.2.1.-", "activity": "", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] }, { "ec_number": "6.2.1.7", "activity": "(25R)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-26-oate + ATP + CoA = (25R)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-26-oyl-CoA + AMP + diphosphate.", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] }, { "ec_number": "6.2.1.24", "activity": "3,7,11,15-tetramethylhexadecanoate + ATP + CoA = AMP + diphosphate + phytanoyl-CoA.", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] }, { "ec_number": "6.2.1.15", "activity": "(5Z,8Z,11Z,14Z)-eicosatetraenoate + ATP + CoA = (5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + AMP + diphosphate.", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] }, { "ec_number": "6.2.1.3", "activity": "", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] } ] }, { "uniprot_ac": "O15120", "gene_name": "AGPAT2", "activity": [ { "ec_number": "2.3.1.51", "activity": "a 1-acyl-sn-glycero-3-phosphate + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphate + CoA.", "evidence": [ { "id": "O15120", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15120" } ] }, { "ec_number": "2.3.1.51", "activity": "", "evidence": [ { "id": "O15120", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15120" } ] } ] }, { "uniprot_ac": "O15121", "gene_name": "DEGS1", "activity": [ { "ec_number": "1.14.19.17", "activity": "an N-acylsphinganine + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = an N-acylsphing-4-enine + 2 Fe(III)-[cytochrome b5] + 2 H2O.", "evidence": [ { "id": "O15121", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15121" } ] }, { "ec_number": "5.2.1.-", "activity": "", "evidence": [ { "id": "O15121", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15121" } ] }, { "ec_number": "1.14.19.17", "activity": "", "evidence": [ { "id": "O15121", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15121" } ] } ] }, { "uniprot_ac": "O75907", "gene_name": "DGAT1", "activity": [ { "ec_number": "2.3.1.20", "activity": "a 1,2-diacyl-sn-glycerol + an acyl-CoA = a triacyl-sn-glycerol + CoA.", "evidence": [ { "id": "O75907", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75907" } ] }, { "ec_number": "2.3.1.76", "activity": "all-trans-retinol + an acyl-CoA = an all-trans-retinyl ester + CoA.", "evidence": [ { "id": "O75907", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75907" } ] }, { "ec_number": "2.3.1.20", "activity": "", "evidence": [ { "id": "O75907", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75907" } ] } ] }, { "uniprot_ac": "O94804", "gene_name": "STK10", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "O94804", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94804" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "O94804", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94804" } ] } ] }, { "uniprot_ac": "P00749", "gene_name": "PLAU", "activity": [ { "ec_number": "3.4.21.73", "activity": "Specific cleavage of Arg-|-Val bond in plasminogen to form plasmin.", "evidence": [ { "id": "P00749", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00749" } ] }, { "ec_number": "3.4.21.73", "activity": "", "evidence": [ { "id": "P00749", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00749" } ] } ] }, { "uniprot_ac": "P04839", "gene_name": "CYBB", "activity": [ { "ec_number": "1.-.-.-", "activity": "", "evidence": [ { "id": "P04839", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04839" } ] } ] }, { "uniprot_ac": "P0C548", "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": "P0C548", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0C548" } ] }, { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "P0C548", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0C548" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "P0C548", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0C548" } ] } ] }, { "uniprot_ac": "P15304", "gene_name": "Lipe", "activity": [ { "ec_number": "3.1.1.23", "activity": "Hydrolyzes glycerol monoesters of long-chain fatty acids.", "evidence": [ { "id": "P15304", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15304" } ] }, { "ec_number": "3.1.1.79", "activity": "a monoacylglycerol + H2O = a fatty acid + glycerol + H(+).", "evidence": [ { "id": "P15304", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15304" } ] }, { "ec_number": "3.1.1.23", "activity": "", "evidence": [ { "id": "P15304", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15304" } ] }, { "ec_number": "3.1.1.79", "activity": "", "evidence": [ { "id": "P15304", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15304" } ] } ] }, { "uniprot_ac": "P23467", "gene_name": "PTPRB", "activity": [ { "ec_number": "3.1.3.48", "activity": "H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate.", "evidence": [ { "id": "P23467", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23467" } ] }, { "ec_number": "3.1.3.48", "activity": "", "evidence": [ { "id": "P23467", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23467" } ] } ] }, { "uniprot_ac": "P30519", "gene_name": "HMOX2", "activity": [ { "ec_number": "1.14.14.18", "activity": "heme b + 3 O2 + 3 reduced [NADPH--hemoprotein reductase] = biliverdin IXalpha + CO + Fe(2+) + H(+) + 3 H2O + 3 oxidized [NADPH--hemoprotein reductase].", "evidence": [ { "id": "P30519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30519" } ] }, { "ec_number": "1.14.14.18", "activity": "", "evidence": [ { "id": "P30519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30519" } ] } ] }, { "uniprot_ac": "P41247", "gene_name": "PNPLA4", "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": "P41247", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P41247" } ] }, { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "P41247", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P41247" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "P41247", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P41247" } ] } ] }, { "uniprot_ac": "P43353", "gene_name": "ALDH3B1", "activity": [ { "ec_number": "1.2.1.5", "activity": "an aldehyde + H2O + NAD(+) = a carboxylate + 2 H(+) + NADH.", "evidence": [ { "id": "P43353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43353" } ] }, { "ec_number": "1.2.1.28", "activity": "benzaldehyde + H2O + NAD(+) = benzoate + 2 H(+) + NADH.", "evidence": [ { "id": "P43353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43353" } ] }, { "ec_number": "1.2.1.7", "activity": "benzaldehyde + H2O + NADP(+) = benzoate + 2 H(+) + NADPH.", "evidence": [ { "id": "P43353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43353" } ] }, { "ec_number": "1.2.1.7", "activity": "", "evidence": [ { "id": "P43353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43353" } ] }, { "ec_number": "1.2.1.5", "activity": "", "evidence": [ { "id": "P43353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43353" } ] }, { "ec_number": "1.2.1.28", "activity": "", "evidence": [ { "id": "P43353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43353" } ] } ] }, { "uniprot_ac": "P54310", "gene_name": "Lipe", "activity": [ { "ec_number": "3.1.1.23", "activity": "Hydrolyzes glycerol monoesters of long-chain fatty acids.", "evidence": [ { "id": "P54310", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54310" } ] }, { "ec_number": "3.1.1.79", "activity": "a monoacylglycerol + H2O = a fatty acid + glycerol + H(+).", "evidence": [ { "id": "P54310", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54310" } ] }, { "ec_number": "3.1.1.23", "activity": "", "evidence": [ { "id": "P54310", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54310" } ] }, { "ec_number": "3.1.1.79", "activity": "", "evidence": [ { "id": "P54310", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54310" } ] } ] }, { "uniprot_ac": "P61225", "gene_name": "RAP2B", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P61225", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61225" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61225", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61225" } ] } ] }, { "uniprot_ac": "P62834", "gene_name": "RAP1A", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P62834", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62834" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P62834", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62834" } ] } ] }, { "uniprot_ac": "P78325", "gene_name": "ADAM8", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "P78325", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P78325" } ] } ] }, { "uniprot_ac": "P98196", "gene_name": "ATP11A", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "P98196", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P98196" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "P98196", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P98196" } ] } ] }, { "uniprot_ac": "Q05469", "gene_name": "LIPE", "activity": [ { "ec_number": "3.1.1.23", "activity": "Hydrolyzes glycerol monoesters of long-chain fatty acids.", "evidence": [ { "id": "Q05469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q05469" } ] }, { "ec_number": "3.1.1.79", "activity": "a monoacylglycerol + H2O = a fatty acid + glycerol + H(+).", "evidence": [ { "id": "Q05469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q05469" } ] }, { "ec_number": "3.1.1.79", "activity": "", "evidence": [ { "id": "Q05469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q05469" } ] } ] }, { "uniprot_ac": "Q08650", "gene_name": "DGA1", "activity": [ { "ec_number": "2.3.1.20", "activity": "a 1,2-diacyl-sn-glycerol + an acyl-CoA = a triacyl-sn-glycerol + CoA.", "evidence": [ { "id": "Q08650", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q08650" } ] }, { "ec_number": "2.3.1.22", "activity": "a 2-acylglycerol + an acyl-CoA = a 1,2-diacylglycerol + CoA.", "evidence": [ { "id": "Q08650", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q08650" } ] }, { "ec_number": "2.3.1.20", "activity": "", "evidence": [ { "id": "Q08650", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q08650" } ] } ] }, { "uniprot_ac": "Q10588", "gene_name": "BST1", "activity": [ { "ec_number": "3.2.2.6", "activity": "H2O + NAD(+) = ADP-D-ribose + H(+) + nicotinamide.", "evidence": [ { "id": "Q10588", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q10588" } ] }, { "ec_number": "3.2.2.6", "activity": "", "evidence": [ { "id": "Q10588", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q10588" } ] } ] }, { "uniprot_ac": "Q12913", "gene_name": "PTPRJ", "activity": [ { "ec_number": "3.1.3.48", "activity": "H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate.", "evidence": [ { "id": "Q12913", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q12913" } ] }, { "ec_number": "3.1.3.48", "activity": "", "evidence": [ { "id": "Q12913", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q12913" } ] } ] }, { "uniprot_ac": "Q13303", "gene_name": "KCNAB2", "activity": [ { "ec_number": "1.1.1.-", "activity": "", "evidence": [ { "id": "Q13303", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13303" } ] } ] }, { "uniprot_ac": "Q13393", "gene_name": "PLD1", "activity": [ { "ec_number": "3.1.4.4", "activity": "a 1-acyl-sn-glycero-3-phosphocholine + H2O = a 1-acyl-sn-glycero-3-phosphate + choline + H(+).", "evidence": [ { "id": "Q13393", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13393" } ] }, { "ec_number": "3.1.4.4", "activity": "", "evidence": [ { "id": "Q13393", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13393" } ] } ] }, { "uniprot_ac": "Q3SYC2", "gene_name": "MOGAT2", "activity": [ { "ec_number": "2.3.1.20", "activity": "a 1,2-diacyl-sn-glycerol + an acyl-CoA = a triacyl-sn-glycerol + CoA.", "evidence": [ { "id": "Q3SYC2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3SYC2" } ] }, { "ec_number": "2.3.1.22", "activity": "a 2-acylglycerol + an acyl-CoA = a 1,2-diacylglycerol + CoA.", "evidence": [ { "id": "Q3SYC2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3SYC2" } ] }, { "ec_number": "2.3.1.22", "activity": "", "evidence": [ { "id": "Q3SYC2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3SYC2" } ] }, { "ec_number": "2.3.1.20", "activity": "", "evidence": [ { "id": "Q3SYC2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3SYC2" } ] } ] }, { "uniprot_ac": "Q54GC1", "gene_name": "dgat2", "activity": [ { "ec_number": "2.3.1.20", "activity": "a 1,2-diacyl-sn-glycerol + an acyl-CoA = a triacyl-sn-glycerol + CoA.", "evidence": [ { "id": "Q54GC1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54GC1" } ] }, { "ec_number": "2.3.1.76", "activity": "all-trans-retinol + an acyl-CoA = an all-trans-retinyl ester + CoA.", "evidence": [ { "id": "Q54GC1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54GC1" } ] }, { "ec_number": "2.3.1.20", "activity": "", "evidence": [ { "id": "Q54GC1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54GC1" } ] } ] }, { "uniprot_ac": "Q55BH9", "gene_name": "dgat1", "activity": [ { "ec_number": "2.3.1.20", "activity": "a 1,2-diacyl-sn-glycerol + an acyl-CoA = a triacyl-sn-glycerol + CoA.", "evidence": [ { "id": "Q55BH9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55BH9" } ] }, { "ec_number": "2.3.1.76", "activity": "all-trans-retinol + an acyl-CoA = an all-trans-retinyl ester + CoA.", "evidence": [ { "id": "Q55BH9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55BH9" } ] }, { "ec_number": "2.3.1.20", "activity": "", "evidence": [ { "id": "Q55BH9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55BH9" } ] } ] }, { "uniprot_ac": "Q58HT5", "gene_name": "AWAT1", "activity": [ { "ec_number": "2.3.1.75", "activity": "a fatty acyl-CoA + a long chain fatty alcohol = a wax ester + CoA.", "evidence": [ { "id": "Q58HT5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q58HT5" } ] }, { "ec_number": "2.3.1.75", "activity": "", "evidence": [ { "id": "Q58HT5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q58HT5" } ] } ] }, { "uniprot_ac": "Q5FVP8", "gene_name": "Dgat2", "activity": [ { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "Q5FVP8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5FVP8" } ] }, { "ec_number": "2.3.1.20", "activity": "a 1,2-diacyl-sn-glycerol + an acyl-CoA = a triacyl-sn-glycerol + CoA.", "evidence": [ { "id": "Q5FVP8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5FVP8" } ] }, { "ec_number": "2.3.1.76", "activity": "all-trans-retinol + an acyl-CoA = an all-trans-retinyl ester + CoA.", "evidence": [ { "id": "Q5FVP8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5FVP8" } ] }, { "ec_number": "2.3.1.20", "activity": "", "evidence": [ { "id": "Q5FVP8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5FVP8" } ] } ] }, { "uniprot_ac": "Q5T4S7", "gene_name": "UBR4", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q5T4S7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5T4S7" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q5T4S7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5T4S7" } ] } ] }, { "uniprot_ac": "Q68CP4", "gene_name": "HGSNAT", "activity": [ { "ec_number": "2.3.1.78", "activity": "acetyl-CoA + alpha-D-glucosaminyl-[heparan sulfate](n) = CoA + H(+) + N-acetyl-alpha-D-glucosaminyl-[heparan sulfate](n).", "evidence": [ { "id": "Q68CP4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q68CP4" } ] }, { "ec_number": "2.3.1.78", "activity": "", "evidence": [ { "id": "Q68CP4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q68CP4" } ] } ] }, { "uniprot_ac": "Q6E1M8", "gene_name": "Awat2", "activity": [ { "ec_number": "2.3.1.75", "activity": "a fatty acyl-CoA + a long chain fatty alcohol = a wax ester + CoA.", "evidence": [ { "id": "Q6E1M8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6E1M8" } ] }, { "ec_number": "2.3.1.76", "activity": "all-trans-retinol + an acyl-CoA = an all-trans-retinyl ester + CoA.", "evidence": [ { "id": "Q6E1M8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6E1M8" } ] }, { "ec_number": "2.3.1.75", "activity": "", "evidence": [ { "id": "Q6E1M8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6E1M8" } ] } ] }, { "uniprot_ac": "Q6E213", "gene_name": "AWAT2", "activity": [ { "ec_number": "2.3.1.75", "activity": "a fatty acyl-CoA + a long chain fatty alcohol = a wax ester + CoA.", "evidence": [ { "id": "Q6E213", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6E213" } ] }, { "ec_number": "2.3.1.76", "activity": "all-trans-retinol + an acyl-CoA = an all-trans-retinyl ester + CoA.", "evidence": [ { "id": "Q6E213", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6E213" } ] }, { "ec_number": "2.3.1.75", "activity": "", "evidence": [ { "id": "Q6E213", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6E213" } ] } ] }, { "uniprot_ac": "Q6ZPD8", "gene_name": "DGAT2L6", "activity": [ { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "Q6ZPD8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6ZPD8" } ] } ] }, { "uniprot_ac": "Q80W94", "gene_name": "Mogat2", "activity": [ { "ec_number": "2.3.1.20", "activity": "a 1,2-diacyl-sn-glycerol + an acyl-CoA = a triacyl-sn-glycerol + CoA.", "evidence": [ { "id": "Q80W94", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q80W94" } ] }, { "ec_number": "2.3.1.22", "activity": "a 2-acylglycerol + an acyl-CoA = a 1,2-diacylglycerol + CoA.", "evidence": [ { "id": "Q80W94", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q80W94" } ] }, { "ec_number": "2.3.1.22", "activity": "", "evidence": [ { "id": "Q80W94", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q80W94" } ] }, { "ec_number": "2.3.1.20", "activity": "", "evidence": [ { "id": "Q80W94", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q80W94" } ] } ] }, { "uniprot_ac": "Q86VF5", "gene_name": "MOGAT3", "activity": [ { "ec_number": "2.3.1.20", "activity": "a 1,2-diacyl-sn-glycerol + an acyl-CoA = a triacyl-sn-glycerol + CoA.", "evidence": [ { "id": "Q86VF5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86VF5" } ] }, { "ec_number": "2.3.1.22", "activity": "a 2-acylglycerol + an acyl-CoA = a 1,2-diacylglycerol + CoA.", "evidence": [ { "id": "Q86VF5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86VF5" } ] }, { "ec_number": "2.3.1.20", "activity": "", "evidence": [ { "id": "Q86VF5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86VF5" } ] }, { "ec_number": "2.3.1.22", "activity": "", "evidence": [ { "id": "Q86VF5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86VF5" } ] } ] }, { "uniprot_ac": "Q8BJ56", "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": "Q8BJ56", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BJ56" } ] }, { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "Q8BJ56", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BJ56" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "Q8BJ56", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BJ56" } ] } ] }, { "uniprot_ac": "Q8TF62", "gene_name": "ATP8B4", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "Q8TF62", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8TF62" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "Q8TF62", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8TF62" } ] } ] }, { "uniprot_ac": "Q91ZV4", "gene_name": "Mogat1", "activity": [ { "ec_number": "2.3.1.22", "activity": "a 2-acylglycerol + an acyl-CoA = a 1,2-diacylglycerol + CoA.", "evidence": [ { "id": "Q91ZV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91ZV4" } ] }, { "ec_number": "2.3.1.22", "activity": "", "evidence": [ { "id": "Q91ZV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91ZV4" } ] } ] }, { "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": "Q96MH6", "gene_name": "TMEM68", "activity": [ { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "Q96MH6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96MH6" } ] }, { "ec_number": "2.3.1.20", "activity": "a 1,2-diacyl-sn-glycerol + an acyl-CoA = a triacyl-sn-glycerol + CoA.", "evidence": [ { "id": "Q96MH6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96MH6" } ] }, { "ec_number": "2.3.1.22", "activity": "a 2-acylglycerol + an acyl-CoA = a 1,2-diacylglycerol + CoA.", "evidence": [ { "id": "Q96MH6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96MH6" } ] } ] }, { "uniprot_ac": "Q96PD6", "gene_name": "MOGAT1", "activity": [ { "ec_number": "2.3.1.22", "activity": "a 2-acylglycerol + an acyl-CoA = a 1,2-diacylglycerol + CoA.", "evidence": [ { "id": "Q96PD6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96PD6" } ] }, { "ec_number": "2.3.1.22", "activity": "", "evidence": [ { "id": "Q96PD6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96PD6" } ] } ] }, { "uniprot_ac": "Q96PD7", "gene_name": "DGAT2", "activity": [ { "ec_number": "2.3.1.20", "activity": "a 1,2-diacyl-sn-glycerol + an acyl-CoA = a triacyl-sn-glycerol + CoA.", "evidence": [ { "id": "Q96PD7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96PD7" } ] }, { "ec_number": "2.3.1.76", "activity": "all-trans-retinol + an acyl-CoA = an all-trans-retinyl ester + CoA.", "evidence": [ { "id": "Q96PD7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96PD7" } ] }, { "ec_number": "2.3.1.20", "activity": "", "evidence": [ { "id": "Q96PD7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96PD7" } ] }, { "ec_number": "2.3.1.76", "activity": "", "evidence": [ { "id": "Q96PD7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96PD7" } ] } ] }, { "uniprot_ac": "Q9D850", "gene_name": "Tmem68", "activity": [ { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "Q9D850", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9D850" } ] }, { "ec_number": "2.3.1.20", "activity": "a 1,2-diacyl-sn-glycerol + an acyl-CoA = a triacyl-sn-glycerol + CoA.", "evidence": [ { "id": "Q9D850", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9D850" } ] }, { "ec_number": "2.3.1.22", "activity": "a 2-acylglycerol + an acyl-CoA = a 1,2-diacylglycerol + CoA.", "evidence": [ { "id": "Q9D850", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9D850" } ] } ] }, { "uniprot_ac": "Q9DCV3", "gene_name": "Dgat2", "activity": [ { "ec_number": "2.3.1.20", "activity": "a 1,2-diacyl-sn-glycerol + an acyl-CoA = a triacyl-sn-glycerol + CoA.", "evidence": [ { "id": "Q9DCV3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9DCV3" } ] }, { "ec_number": "2.3.1.76", "activity": "all-trans-retinol + an acyl-CoA = an all-trans-retinyl ester + CoA.", "evidence": [ { "id": "Q9DCV3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9DCV3" } ] }, { "ec_number": "2.3.1.20", "activity": "", "evidence": [ { "id": "Q9DCV3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9DCV3" } ] }, { "ec_number": "2.3.1.76", "activity": "", "evidence": [ { "id": "Q9DCV3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9DCV3" } ] } ] }, { "uniprot_ac": "Q9ERM3", "gene_name": "Dgat1", "activity": [ { "ec_number": "2.3.1.20", "activity": "a 1,2-diacyl-sn-glycerol + an acyl-CoA = a triacyl-sn-glycerol + CoA.", "evidence": [ { "id": "Q9ERM3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9ERM3" } ] }, { "ec_number": "2.3.1.76", "activity": "all-trans-retinol + an acyl-CoA = an all-trans-retinyl ester + CoA.", "evidence": [ { "id": "Q9ERM3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9ERM3" } ] }, { "ec_number": "2.3.1.20", "activity": "", "evidence": [ { "id": "Q9ERM3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9ERM3" } ] } ] }, { "uniprot_ac": "Q9NPA2", "gene_name": "MMP25", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "Q9NPA2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NPA2" } ] } ] }, { "uniprot_ac": "Q9Y2Q0", "gene_name": "ATP8A1", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "Q9Y2Q0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2Q0" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "Q9Y2Q0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2Q0" } ] } ] }, { "uniprot_ac": "Q9Z2A7", "gene_name": "Dgat1", "activity": [ { "ec_number": "2.3.1.20", "activity": "a 1,2-diacyl-sn-glycerol + an acyl-CoA = a triacyl-sn-glycerol + CoA.", "evidence": [ { "id": "Q9Z2A7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Z2A7" } ] }, { "ec_number": "2.3.1.76", "activity": "all-trans-retinol + an acyl-CoA = an all-trans-retinyl ester + CoA.", "evidence": [ { "id": "Q9Z2A7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Z2A7" } ] }, { "ec_number": "2.3.1.20", "activity": "", "evidence": [ { "id": "Q9Z2A7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Z2A7" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 7, 12, 17, 18 ], "sequon_annotation_sites": [ { "start_pos": 246, "end_pos": 248 } ] }, "section_stats": [ { "table_id": "glycosylation", "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_reported", "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_reported_with_glycan", "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_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": 4 }, { "field": "total_sites", "count": 4 } ], "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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 39 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }