{ "uniprot_canonical_ac": "O75390-1", "uniprot_ac": "O75390", "uniprot_id": "CISY_HUMAN", "mass": { "chemical_mass": 51712.0, "monoisotopic_mass": 51712.0 }, "refseq": { "ac": "NP_004068", "name": "citrate synthase, mitochondrial precursor", "summary": "The protein encoded by this gene is a Krebs tricarboxylic acid cycle enzyme that catalyzes the synthesis of citrate from oxaloacetate and acetyl coenzyme A. The enzyme is found in nearly all cells capable of oxidative metablism. This protein is nuclear encoded and transported into the mitochondrial matrix, where the mature form is found. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004068" }, "gene_names": [ { "name": "CS", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75390", "id": "O75390" }, { "name": "CS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004068", "id": "NP_004068" } ], "protein_names": [ { "name": "Citrate synthase, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75390" }, { "name": "2.3.3.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75390" }, { "name": "Citrate (Si)-synthase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75390" }, { "name": "citrate synthase, mitochondrial precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004068", "id": "NP_004068" }, { "name": "citrate synthase, mitochondrial; citrate (Si)-synthase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004068", "id": "NP_004068" } ], "function": [ { "annotation": "METTL12 methylates CS on Lys-395, which is localized in the CS active site. Interestingly, the METTL12-mediated methylation inhibited CS activity and was blocked by the CS substrate oxaloacetate.", "evidence": [ { "database": "RefSeq", "id": "NP_004068", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004068" }, { "database": "PubMed", "id": "28887308", "url": "https://glygen.org/publication/PubMed/28887308" } ] }, { "annotation": "Rethinking the Citric Acid Cycle: Connecting Pyruvate Carboxylase and Citrate Synthase to the Flow of Energy and Material. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004068", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004068" }, { "database": "PubMed", "id": "33435350", "url": "https://glygen.org/publication/PubMed/33435350" } ] }, { "annotation": "The Novel Role of Mitochondrial Citrate Synthase and Citrate in the Pathophysiology of Alzheimer's Disease. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_004068", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004068" }, { "database": "PubMed", "id": "37393492", "url": "https://glygen.org/publication/PubMed/37393492" } ] }, { "annotation": "The active sites of the citrate synthase is almost identical, the differences in reactions catalyzed by citrate synthase are caused by residues that are in the vicinity of the active site and influence conformational changes of the citrate synthase.", "evidence": [ { "database": "RefSeq", "id": "NP_004068", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004068" }, { "database": "PubMed", "id": "31141475", "url": "https://glygen.org/publication/PubMed/31141475" } ] }, { "annotation": "The left-lateralisation of citrate synthase activity in the anterior cingulate cortex of male violent suicide victims.", "evidence": [ { "database": "RefSeq", "id": "NP_004068", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004068" }, { "database": "PubMed", "id": "36350374", "url": "https://glygen.org/publication/PubMed/36350374" } ] }, { "annotation": "The protein encoded by this gene is a Krebs tricarboxylic acid cycle enzyme that catalyzes the synthesis of citrate from oxaloacetate and acetyl coenzyme A. The enzyme is found in nearly all cells capable of oxidative metablism. This protein is nuclear encoded and transported into the mitochondrial matrix, where the mature form is found. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_004068", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004068" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 393, "end_pos": 393, "sequence_org": "K", "sequence_mut": "R", "comment": "Does not inhibit methylation.", "evidence": [ { "database": "UniProtKB", "id": "O75390", "url": "https://www.uniprot.org/uniprot/O75390" }, { "database": "PubMed", "id": "28887308", "url": "https://glygen.org/publication/PubMed/28887308" } ] }, { "start_pos": 395, "end_pos": 395, "sequence_org": "K", "sequence_mut": "R", "comment": "Inhibits methylation.", "evidence": [ { "database": "UniProtKB", "id": "O75390", "url": "https://www.uniprot.org/uniprot/O75390" }, { "database": "PubMed", "id": "28887308", "url": "https://glygen.org/publication/PubMed/28887308" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "96.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000062485", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000062485" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "96.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000062485", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000062485" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "97.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000062485", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000062485" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "96.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000062485", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000062485" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "97.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000062485", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000062485" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "98.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000062485", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000062485" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "98.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000062485", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000062485" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "96.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000062485", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000062485" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "95.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000062485", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000062485" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "94.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000062485", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000062485" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "93.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000062485", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000062485" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "96.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000062485", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000062485" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "97.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000062485", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000062485" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75390", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75390" } ], "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": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75390", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75390" } ], "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": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75390", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75390" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O75390", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75390" } ], "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": "O75390", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75390" } ], "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": "O75390", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75390" } ], "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": "O75390", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75390" } ], "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": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O75390", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75390" } ], "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": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O75390", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75390" } ], "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": "O75390", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75390" } ], "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": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O75390", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75390" } ], "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": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O75390", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75390" } ], "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": "O75390", "url": "https://www.uniprot.org/uniprot/O75390" } ], "common_name": "Human" } ], "gene": [ { "name": "CS", "url": "https://www.uniprot.org/uniprot/O75390", "locus": { "chromosome": "12", "start_pos": 56271699, "end_pos": 56300391, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000062485", "url": "https://www.ensembl.org/id/ENSG00000062485" } ] } } ], "crossref": [ { "id": "ENSG00000062485", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000062485", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "2.3.3.1", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=2.3.3.1&UniProtAcc=O75390", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "2.3.3.16", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=2.3.3.16&UniProtAcc=O75390", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd06105", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd06105", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL4295678", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL4295678", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "CS", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CS", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "1431", "url": "https://www.ncbi.nlm.nih.gov/gene/1431", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "2422", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2422", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O75390", "url": "https://www.ebi.ac.uk/intact/interactors/id:O75390*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR002020", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002020", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR010109", "url": "https://www.ebi.ac.uk/interpro/entry/IPR010109", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016142", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016142", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016143", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016143", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR019810", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019810", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036969", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036969", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:1431", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1431", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "118950", "url": "http://www.omim.org/entry/118950", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75390", "url": "https://www.nextprot.org/entry/NX_O75390", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O75390", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75390", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "TVGWCAQ", "url": "https://omabrowser.org/oma/group/TVGWCAQ/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3513214at2759", "url": "http://www.orthodb.org/?query=3513214at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11739", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11739", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11739:SF8", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11739:SF8", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "5UZP", "url": "https://www.rcsb.org/structure/5UZP", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5UZQ", "url": "https://www.rcsb.org/structure/5UZQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5UZR", "url": "https://www.rcsb.org/structure/5UZR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00285", "url": "http://pfam.xfam.org/family/PF00285", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75390", "url": "https://pharos.nih.gov/targets/O75390", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75390", "url": "http://purl.obolibrary.org/obo/PR_O75390", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_004068", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004068", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "16845", "url": "https://www.rhea-db.org/rhea/16845", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A0C4DGI3", "url": "https://www.uniprot.org/uniprot/A0A0C4DGI3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0C4DGI3-1", "url": "https://www.uniprot.org/uniprot/A0A0C4DGI3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B4DJV2", "url": "https://www.uniprot.org/uniprot/B4DJV2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B4DJV2-1", "url": "https://www.uniprot.org/uniprot/B4DJV2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VPA1", "url": "https://www.uniprot.org/uniprot/F8VPA1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VPA1-1", "url": "https://www.uniprot.org/uniprot/F8VPA1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VPF9", "url": "https://www.uniprot.org/uniprot/F8VPF9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VPF9-1", "url": "https://www.uniprot.org/uniprot/F8VPF9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VR34", "url": "https://www.uniprot.org/uniprot/F8VR34", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VR34-1", "url": "https://www.uniprot.org/uniprot/F8VR34-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VRI6", "url": "https://www.uniprot.org/uniprot/F8VRI6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VRI6-1", "url": "https://www.uniprot.org/uniprot/F8VRI6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VRP1", "url": "https://www.uniprot.org/uniprot/F8VRP1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VRP1-1", "url": "https://www.uniprot.org/uniprot/F8VRP1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VTT8", "url": "https://www.uniprot.org/uniprot/F8VTT8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VTT8-1", "url": "https://www.uniprot.org/uniprot/F8VTT8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VU34", "url": "https://www.uniprot.org/uniprot/F8VU34", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VU34-1", "url": "https://www.uniprot.org/uniprot/F8VU34-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VVY4", "url": "https://www.uniprot.org/uniprot/F8VVY4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VVY4-1", "url": "https://www.uniprot.org/uniprot/F8VVY4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VWQ5", "url": "https://www.uniprot.org/uniprot/F8VWQ5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VWQ5-1", "url": "https://www.uniprot.org/uniprot/F8VWQ5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VX07", "url": "https://www.uniprot.org/uniprot/F8VX07", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VX07-1", "url": "https://www.uniprot.org/uniprot/F8VX07-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VX68", "url": "https://www.uniprot.org/uniprot/F8VX68", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VX68-1", "url": "https://www.uniprot.org/uniprot/F8VX68-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VZK9", "url": "https://www.uniprot.org/uniprot/F8VZK9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VZK9-1", "url": "https://www.uniprot.org/uniprot/F8VZK9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W0J2", "url": "https://www.uniprot.org/uniprot/F8W0J2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W0J2-1", "url": "https://www.uniprot.org/uniprot/F8W0J2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W1S4", "url": "https://www.uniprot.org/uniprot/F8W1S4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W1S4-1", "url": "https://www.uniprot.org/uniprot/F8W1S4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W4S1", "url": "https://www.uniprot.org/uniprot/F8W4S1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W4S1-1", "url": "https://www.uniprot.org/uniprot/F8W4S1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W642", "url": "https://www.uniprot.org/uniprot/F8W642", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W642-1", "url": "https://www.uniprot.org/uniprot/F8W642-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YH82", "url": "https://www.uniprot.org/uniprot/H0YH82", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YH82-1", "url": "https://www.uniprot.org/uniprot/H0YH82-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YIC4", "url": "https://www.uniprot.org/uniprot/H0YIC4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YIC4-1", "url": "https://www.uniprot.org/uniprot/H0YIC4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75390", "url": "https://www.uniprot.org/uniprot/O75390", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75390-1", "url": "https://www.uniprot.org/uniprot/O75390-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MALLTAAARLLGTKNASCLVLAARHASASSTNLKDILADLIPKEQARIKTFRQQHGKTVVGQITVDMMYGGMRGMKGLVYETSVLDPDEGIRFRGFSIPECQKLLPKAKGGEEPLPEGLFWLLVTGHIPTEEQVSWLSKEWAKRAALPSHVVTMLDNFPTNLHPMSQLSAAVTALNSESNFARAYAQGISRTKYWELIYEDSMDLIAKLPCVAAKIYRNLYREGSGIGAIDSNLDWSHNFTNMLGYTDHQFTELTRLYLTIHSDHEGGNVSAHTSHLVGSALSDPYLSFAAAMNGLAGPLHGLANQEVLVWLTQLQKEVGKDVSDEKLRDYIWNTLNSGRVVPGYGHAVLRKTDPRYTCQREFALKHLPNDPMFKLVAQLYKIVPNVLLEQGKAKNPWPNVDAHSGVLLQYYGMTEMNYYTVLFGVSRALGVLAQLIWSRALGFPLERPKSMSTEGLMKFVDSKSG", "length": 466, "header": "sp|O75390-1|CISY_HUMAN Isoform 1 of Citrate synthase, mitochondrial OS=Homo sapiens OX=9606 GN=CS PE=1 SV=2 CANONICAL=O75390-1" }, "isoforms": [ { "isoform_ac": "A0A0C4DGI3-1", "url": "", "sequence": { "sequence": "MMYGGMRGMKGLVYETSVLDPDEGIRFRGFSIPECQKLLPKAKGGEEPLPEGLFWLLVTGHIPTEEQVSWLSKEWAKRAALPSHVVTMLDNFPTNLHPMSQLSAAVTALNSESNFARAYAQGISRTKYWELIYEDSMDLIAKLPCVAAKIYRNLYREGSGIGAIDSNLDWSHNFTNMLGYTDHQFTELTRLYLTIHSDHEGGNVSAHTSHLVGSALSDPYLSFAAAMNGLAGPLHGLANQEVLVWLTQLQKEVGKDVSDEKLRDYIWNTLNSGRVVPGYGHAVLRKTDPRYTCQREFALKHLPNDPMFKLVAQLYKIVPNVLLEQGKAKNPWPNVDAHSGVLLQYYGMTEMNYYTVLFGVSRALGVLAQLIWSRALGFPLERPKSMSTEGLMKFVDSKSG", "length": 400, "header": "tr|A0A0C4DGI3-1|A0A0C4DGI3_HUMAN Computationally mapped isoform of Citrate synthase OS=Homo sapiens OX=9606 GN=CS PE=1 SV=1 CANONICAL=O75390-1" }, "locus": { "chromosome": "12", "start_pos": 56285918, "end_pos": 56273087, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000548567.5", "url": "https://www.ensembl.org/id/ENST00000548567.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000446779.1", "url": "https://www.ensembl.org/id/ENSP00000446779.1" } ] } }, { "isoform_ac": "B4DJV2-1", "url": "", "sequence": { "sequence": "MNASCLVLAARHASASSTNLKDILADLIPKEQARIKTFRQQHGKTVVGQITVDMMYGGMRGMKGLVYETSVLDPDEGIRFRGFSIPECQKLLPKAKGGEEPLPEGLFWLLVTGHIPTEEQVSWLSKEWAKRAALPSHVVTMLDNFPTNLHPMSQLSAAVTALNSESNFARAYAQGISRTKYWELIYEDSMDLIAKLPCVAAKIYRNLYREGSGIGAIDSNLDWSHNFTNMLGYTDHQFTELTRLYLTIHSDHEGGNVSAHTSHLVGSALSDPYLSFAAAMNGLAGPLHGLANQEVLVWLTQLQKEVGKDVSDEKLRDYIWNTLNSGRVVPGYGHAVLRKTDPRYTCQREFALKHLPNDPMFKLVAQLYKIVPNVLLEQGKAKNPWPNVDAHSGVLLQYYGMTEMNYYTVLFGVSRALGVLAQLIWSRALGFPLERPKSMSTEGLMKFVDSKSG", "length": 453, "header": "tr|B4DJV2-1|B4DJV2_HUMAN Computationally mapped isoform of Citrate synthase OS=Homo sapiens OX=9606 GN=CS PE=1 SV=1 CANONICAL=O75390-1" }, "locus": { "chromosome": "12", "start_pos": 56291222, "end_pos": 56273087, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000542324.6", "url": "https://www.ensembl.org/id/ENST00000542324.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000440543.2", "url": "https://www.ensembl.org/id/ENSP00000440543.2" } ] } }, { "isoform_ac": "F8VPA1-1", "url": "", "sequence": { "sequence": "MMYGGMRGMKGLVYETSVLDPDEGIRFRGFSIPECQKLLPKAKGGEEPLPEGLFWLLVTGHIPTEEQVSWLSKEWAKRAALPSHVVTMLDNFPTNLHPMSQLSAAVTALNSESNFARAYAQGISRTKYWELIYEDSMDLIAKLP", "length": 144, "header": "tr|F8VPA1-1|F8VPA1_HUMAN Computationally mapped isoform of Citrate synthase OS=Homo sapiens OX=9606 GN=CS PE=1 SV=1 CANONICAL=O75390-1" }, "locus": { "chromosome": "12", "start_pos": 56285918, "end_pos": 56276154, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000551936.5", "url": "https://www.ensembl.org/id/ENST00000551936.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000450312.1", "url": "https://www.ensembl.org/id/ENSP00000450312.1" } ] } }, { "isoform_ac": "F8VPF9-1", "url": "", "sequence": { "sequence": "MMYGGMRGMKGLVYETSVLDPDEGIRFRGFSIPECQKLLPKAKGGEEPLPEGLFWLLVTGHIPTEEQVSWLSKEWAKRAALPSHVVTMLDNFPTNLHPMSQLSAAVTALNSESNFARAYAQGISRTKYWELIYEDSMDLI", "length": 140, "header": "tr|F8VPF9-1|F8VPF9_HUMAN Computationally mapped isoform of Citrate synthase OS=Homo sapiens OX=9606 GN=CS PE=1 SV=8 CANONICAL=O75390-1" }, "locus": { "chromosome": "12", "start_pos": 56285918, "end_pos": 56276166, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000551253.5", "url": "https://www.ensembl.org/id/ENST00000551253.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000450101.1", "url": "https://www.ensembl.org/id/ENSP00000450101.1" } ] } }, { "isoform_ac": "F8VR34-1", "url": "", "sequence": { "sequence": "MALLTAAARLLGTKNASCLVLAARHASASSTNLKDILADLIPKEQARIKTFRQQHGKTVVGQITVDMVSWLSKEWAKRAALPSHVVTMLDNFPTNLHPMSQLSAAVTALNSESNFARAYAQGISRTKYWELIYEDSMDLIAKLPCV", "length": 146, "header": "tr|F8VR34-1|F8VR34_HUMAN Computationally mapped isoform of Citrate synthase OS=Homo sapiens OX=9606 GN=CS PE=1 SV=1 CANONICAL=O75390-1" }, "locus": { "chromosome": "12", "start_pos": 56300201, "end_pos": 56276148, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000546930.5", "url": "https://www.ensembl.org/id/ENST00000546930.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000450403.1", "url": "https://www.ensembl.org/id/ENSP00000450403.1" } ] } }, { "isoform_ac": "F8VRI6-1", "url": "", "sequence": { "sequence": "MALLTAAARLLGTKGIRFRGFSIPECQKLLPKAKGGEEPLPEGLFWLLVTGHIPTEEQVSWLSKEWAKRAALPSHVVTMLDNFPTNLHPMSQLSAAVTALNSESNFARAYAQGISRTKYWELIYEDSMDLIAKLPCVAAK", "length": 140, "header": "tr|F8VRI6-1|F8VRI6_HUMAN Computationally mapped isoform of Citrate synthase OS=Homo sapiens OX=9606 GN=CS PE=1 SV=1 CANONICAL=O75390-1" }, "locus": { "chromosome": "12", "start_pos": 56300201, "end_pos": 56276139, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000549221.5", "url": "https://www.ensembl.org/id/ENST00000549221.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000448667.1", "url": "https://www.ensembl.org/id/ENSP00000448667.1" } ] } }, { "isoform_ac": "F8VRP1-1", "url": "", "sequence": { "sequence": "MMYGGMRGMKGLVYETSVLDPDEGIRFRGFSIPECQKLLPKAKGGEEPLPEGLFWLLVTGHIPTEEQVSWLSKEWAKRAALPSHVVTMLDNFPTNLHPMSQLSAAVTALNSESNFAR", "length": 117, "header": "tr|F8VRP1-1|F8VRP1_HUMAN Computationally mapped isoform of Citrate synthase OS=Homo sapiens OX=9606 GN=CS PE=1 SV=8 CANONICAL=O75390-1" }, "locus": { "chromosome": "12", "start_pos": 56285918, "end_pos": 56282459, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000547298.5", "url": "https://www.ensembl.org/id/ENST00000547298.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000448409.1", "url": "https://www.ensembl.org/id/ENSP00000448409.1" } ] } }, { "isoform_ac": "F8VTT8-1", "url": "", "sequence": { "sequence": "MALLTAAARLLGTKNASCLVLAARHASASSTNLKDILADLIPKEQARIKTFRQQHGKTVVGQITVDMMYGGMRGMKGLVYETSVLDPDEGIRFRGFSIPECQKLLPKAKGGEEPLPEGLFWLLVTGHIPTEEQLIYEDSMDLIAKLPCV", "length": 149, "header": "tr|F8VTT8-1|F8VTT8_HUMAN Computationally mapped isoform of Citrate synthase OS=Homo sapiens OX=9606 GN=CS PE=1 SV=1 CANONICAL=O75390-1" }, "locus": { "chromosome": "12", "start_pos": 56300201, "end_pos": 56276148, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000548041.5", "url": "https://www.ensembl.org/id/ENST00000548041.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000447986.1", "url": "https://www.ensembl.org/id/ENSP00000447986.1" } ] } }, { "isoform_ac": "F8VU34-1", "url": "", "sequence": { "sequence": "MALLTAAARLLGTKNASCLVLAARHASASSTNLKDILADLIPKEQARIKTFRQQHGKTVVGQITVDMMYGGMRGMKGLVYETSVLDPDEGLFWLLVTGHIPTEEQVSWLSKEWAKRAALPSHVVTMLDNFPTNLHPMSQLSA", "length": 142, "header": "tr|F8VU34-1|F8VU34_HUMAN Computationally mapped isoform of Citrate synthase OS=Homo sapiens OX=9606 GN=CS PE=1 SV=1 CANONICAL=O75390-1" }, "locus": { "chromosome": "12", "start_pos": 56300201, "end_pos": 56282498, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000551968.5", "url": "https://www.ensembl.org/id/ENST00000551968.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000447948.1", "url": "https://www.ensembl.org/id/ENSP00000447948.1" } ] } }, { "isoform_ac": "F8VVY4-1", "url": "", "sequence": { "sequence": "MALLTAAARLLGTKNASCLVLAATWQDGGGPNHCGHDVWWHERHEGIGL", "length": 49, "header": "tr|F8VVY4-1|F8VVY4_HUMAN Computationally mapped isoform of Citrate synthase OS=Homo sapiens OX=9606 GN=CS PE=4 SV=1 CANONICAL=O75390-1" }, "locus": { "chromosome": "12", "start_pos": 56300201, "end_pos": 56283820, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000549143.5", "url": "https://www.ensembl.org/id/ENST00000549143.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000449571.1", "url": "https://www.ensembl.org/id/ENSP00000449571.1" } ] } }, { "isoform_ac": "F8VWQ5-1", "url": "", "sequence": { "sequence": "MALLTAAARLLGTKNASCLVLAARHASASSTNLKDILADLIPKEQARIKTFRQQHGKTVVGQITVDMGIRFRGFSIPECQKLLPKAKGGEEPLPEGLFWLLVTGHIPTEEQVSWLSKEWAKRAALPSHVVTM", "length": 132, "header": "tr|F8VWQ5-1|F8VWQ5_HUMAN Computationally mapped isoform of Citrate synthase OS=Homo sapiens OX=9606 GN=CS PE=1 SV=1 CANONICAL=O75390-1" }, "locus": { "chromosome": "12", "start_pos": 56300201, "end_pos": 56282546, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000548849.5", "url": "https://www.ensembl.org/id/ENST00000548849.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000449491.1", "url": "https://www.ensembl.org/id/ENSP00000449491.1" } ] } }, { "isoform_ac": "F8VX07-1", "url": "", "sequence": { "sequence": "MMYGGMRGMKGLVYETSVLDPDEGIRFRGFSIPECQKLLPKAKGGEEPLPEGLFWLLVTGHIPTEEQVSWLSKEWAKRAALPSHVVTMLDNFPTNLHPMSQLSAAVTALNSESN", "length": 114, "header": "tr|F8VX07-1|F8VX07_HUMAN Computationally mapped isoform of Citrate synthase OS=Homo sapiens OX=9606 GN=CS PE=1 SV=1 CANONICAL=O75390-1" }, "locus": { "chromosome": "12", "start_pos": 56285918, "end_pos": 56282468, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000551137.5", "url": "https://www.ensembl.org/id/ENST00000551137.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000449753.1", "url": "https://www.ensembl.org/id/ENSP00000449753.1" } ] } }, { "isoform_ac": "F8VX68-1", "url": "", "sequence": { "sequence": "MMYGGMRGMKGLVYETSVLDPDEGIRFRGFSIPECQKLLPKAKGGEEPLPEGLFWLLVTGHIPTEEQVSWLSKEWAKRAALPSHVVTMLDNFPTNLHPMSQLSAAVTALNSESNFARAYA", "length": 120, "header": "tr|F8VX68-1|F8VX68_HUMAN Computationally mapped isoform of Citrate synthase OS=Homo sapiens OX=9606 GN=CS PE=1 SV=1 CANONICAL=O75390-1" }, "locus": { "chromosome": "12", "start_pos": 56285918, "end_pos": 56282450, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000551473.5", "url": "https://www.ensembl.org/id/ENST00000551473.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000449427.1", "url": "https://www.ensembl.org/id/ENSP00000449427.1" } ] } }, { "isoform_ac": "F8VZK9-1", "url": "", "sequence": { "sequence": "MMYGGMRGMKGLVYETSVLDPDEGIRFRGFSIPECQKLLPKAKGGEEPLPEGLFWLLVTGHIPTEEQVSWLSKEWAKRAA", "length": 80, "header": "tr|F8VZK9-1|F8VZK9_HUMAN Computationally mapped isoform of Citrate synthase OS=Homo sapiens OX=9606 GN=CS PE=1 SV=8 CANONICAL=O75390-1" }, "locus": { "chromosome": "12", "start_pos": 56285918, "end_pos": 56282570, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000550159.5", "url": "https://www.ensembl.org/id/ENST00000550159.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000447346.1", "url": "https://www.ensembl.org/id/ENSP00000447346.1" } ] } }, { "isoform_ac": "F8W0J2-1", "url": "", "sequence": { "sequence": "MALLTAAARLLGTKNASCLVLAARHASASSTNLKDILADLIPKEQARIKTFRQQHGKTVVGQITVDMACCSGSCL", "length": 75, "header": "tr|F8W0J2-1|F8W0J2_HUMAN Computationally mapped isoform of Citrate synthase OS=Homo sapiens OX=9606 GN=CS PE=1 SV=1 CANONICAL=O75390-1" }, "locus": { "chromosome": "12", "start_pos": 56300201, "end_pos": 56285221, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000552222.5", "url": "https://www.ensembl.org/id/ENST00000552222.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000447582.1", "url": "https://www.ensembl.org/id/ENSP00000447582.1" } ] } }, { "isoform_ac": "F8W1S4-1", "url": "", "sequence": { "sequence": "MALLTAAARLLGTKNASCLVLAARHASASSTMYGGMRGMKGLVYETSVLDPDEGIRFRGFSIPECQKLLPKAKGGEEPLPEGLFWLLVTGHIPTEEQVSWLSKEWAKRAALPSHVVTMLDNFPTNLHPMSQLSAAVTALNSESNFARAYAQGISRTK", "length": 157, "header": "tr|F8W1S4-1|F8W1S4_HUMAN Computationally mapped isoform of Citrate synthase OS=Homo sapiens OX=9606 GN=CS PE=1 SV=1 CANONICAL=O75390-1" }, "locus": { "chromosome": "12", "start_pos": 56300201, "end_pos": 56282429, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000552688.5", "url": "https://www.ensembl.org/id/ENST00000552688.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000447442.1", "url": "https://www.ensembl.org/id/ENSP00000447442.1" } ] } }, { "isoform_ac": "F8W4S1-1", "url": "", "sequence": { "sequence": "MALLTAAARLLGTKNASCLVLAARHASASSTNLKDILADLIPKEQARIKTFRQQHGKTVVGQITVDMMYGGMRGMKGLVYETSVLDPDEGIRFRGFSIPECQKLLPKAKGGEEPLPEGLFWLLVTGHIPTEEQVSWLSKEWAKRAALPSHVVTMLDNFPTNLHPMSQLSAAVTALNSE", "length": 178, "header": "tr|F8W4S1-1|F8W4S1_HUMAN Computationally mapped isoform of Citrate synthase OS=Homo sapiens OX=9606 GN=CS PE=1 SV=1 CANONICAL=O75390-1" }, "locus": { "chromosome": "12", "start_pos": 56300201, "end_pos": 56282474, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000550655.5", "url": "https://www.ensembl.org/id/ENST00000550655.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000448172.1", "url": "https://www.ensembl.org/id/ENSP00000448172.1" } ] } }, { "isoform_ac": "F8W642-1", "url": "", "sequence": { "sequence": "MMYGGMRGMKGLVYETSVLDPDEGIRFRGFSIPECQKLLPKAKGGEEPLPEGLFWLLVTGHIPTEE", "length": 66, "header": "tr|F8W642-1|F8W642_HUMAN Computationally mapped isoform of Citrate synthase OS=Homo sapiens OX=9606 GN=CS PE=1 SV=1 CANONICAL=O75390-1" }, "locus": { "chromosome": "12", "start_pos": 56285918, "end_pos": 56282863, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000551430.6", "url": "https://www.ensembl.org/id/ENST00000551430.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000448166.2", "url": "https://www.ensembl.org/id/ENSP00000448166.2" } ] } }, { "isoform_ac": "H0YH82-1", "url": "", "sequence": { "sequence": "LADLIPKEQARIKTFRQQHGKTVVGQITVDMMYGGMRGMKGLVYETSVLDPDEGIRFRGFSIPECQKLLPKAKGGEEPLPEGLFWLLVTGHIPTEEQVSWLSKEWAKRAALPSHVVTMLDNFPTNLHPMSQLSAAVTALNSESNFARAYAQGISRTKYWEQRSTEISTEKAAVLGPLTLTWTGLTISPTC", "length": 190, "header": "tr|H0YH82-1|H0YH82_HUMAN Computationally mapped isoform of Citrate synthase OS=Homo sapiens OX=9606 GN=CS PE=1 SV=1 CANONICAL=O75390-1" }, "locus": { "chromosome": "12", "start_pos": 56286008, "end_pos": 56276054, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000546891.5", "url": "https://www.ensembl.org/id/ENST00000546891.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000446492.1", "url": "https://www.ensembl.org/id/ENSP00000446492.1" } ] } }, { "isoform_ac": "H0YIC4-1", "url": "", "sequence": { "sequence": "LRDYIWNTLNSGRVVPGYGHAVLRKTDPRYTCQREFALKHLPNDPMFKLVAQLYKIVPNVLLEQGKAKNPWPNVDAHSGVLLQYYGMTEMNYYTVLFGVSRALGVLAQLIWSRALGFPLERKD", "length": 123, "header": "tr|H0YIC4-1|H0YIC4_HUMAN Computationally mapped isoform of Citrate synthase OS=Homo sapiens OX=9606 GN=CS PE=1 SV=1 CANONICAL=O75390-1" }, "locus": { "chromosome": "12", "start_pos": 56274815, "end_pos": 56271885, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000548746.5", "url": "https://www.ensembl.org/id/ENST00000548746.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000449080.1", "url": "https://www.ensembl.org/id/ENSP00000449080.1" } ] } }, { "isoform_ac": "O75390-1", "url": "", "sequence": { "sequence": "MALLTAAARLLGTKNASCLVLAARHASASSTNLKDILADLIPKEQARIKTFRQQHGKTVVGQITVDMMYGGMRGMKGLVYETSVLDPDEGIRFRGFSIPECQKLLPKAKGGEEPLPEGLFWLLVTGHIPTEEQVSWLSKEWAKRAALPSHVVTMLDNFPTNLHPMSQLSAAVTALNSESNFARAYAQGISRTKYWELIYEDSMDLIAKLPCVAAKIYRNLYREGSGIGAIDSNLDWSHNFTNMLGYTDHQFTELTRLYLTIHSDHEGGNVSAHTSHLVGSALSDPYLSFAAAMNGLAGPLHGLANQEVLVWLTQLQKEVGKDVSDEKLRDYIWNTLNSGRVVPGYGHAVLRKTDPRYTCQREFALKHLPNDPMFKLVAQLYKIVPNVLLEQGKAKNPWPNVDAHSGVLLQYYGMTEMNYYTVLFGVSRALGVLAQLIWSRALGFPLERPKSMSTEGLMKFVDSKSG", "length": 466, "header": "sp|O75390-1|CISY_HUMAN Isoform 1 of Citrate synthase, mitochondrial OS=Homo sapiens OX=9606 GN=CS PE=1 SV=2 CANONICAL=O75390-1" }, "locus": { "chromosome": "12", "start_pos": 56300201, "end_pos": 56273087, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000351328.8", "url": "https://www.ensembl.org/id/ENST00000351328.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000342056.3", "url": "https://www.ensembl.org/id/ENSP00000342056.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O75390", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75390" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" } ] } ], "phosphorylation": [ { "start_pos": 13, "end_pos": 13, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75390", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75390" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr13" }, { "start_pos": 5, "end_pos": 5, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75390", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75390" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr5" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Aconitase polymorphism in man.", "journal": "Annals of human genetics", "date": "1975", "authors": "Slaughter CA, Hopkinson DA, Harris H", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "1052766", "url": "https://glygen.org/publication/PubMed/1052766" } ] }, { "title": "The high-resolution structure of the NADP(H)-binding component (dIII) of proton-translocating transhydrogenase from human heart mitochondria.", "journal": "Structure (London, England : 1993)", "date": "2000", "authors": "White SA, Peake SJ, McSweeney S, Leonard G, Cotton NP, Jackson JB", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "10673423", "url": "https://glygen.org/publication/PubMed/10673423" } ] }, { "title": "Interaction between succinyl CoA synthetase and the heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic anemia.", "journal": "The Journal of clinical investigation", "date": "2000", "authors": "Furuyama K, Sassa S", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "10727444", "url": "https://glygen.org/publication/PubMed/10727444" } ] }, { "title": "The remarkable structural and functional organization of the eukaryotic pyruvate dehydrogenase complexes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Zhou ZH, McCarthy DB, O'Connor CM, Reed LJ, Stoops JK", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "11752427", "url": "https://glygen.org/publication/PubMed/11752427" } ] }, { "title": "Functional proteolytic complexes of the human mitochondrial ATP-dependent protease, hClpXP.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Kang SG, Ortega J, Singh SK, Wang N, Huang NN, Steven AC, Maurizi MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "11923310", "url": "https://glygen.org/publication/PubMed/11923310" } ] }, { "title": "Lon protease preferentially degrades oxidized mitochondrial aconitase by an ATP-stimulated mechanism.", "journal": "Nature cell biology", "date": "2002", "authors": "Bota DA, Davies KJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "12198491", "url": "https://glygen.org/publication/PubMed/12198491" } ] }, { "title": "Crystal structure of porcine mitochondrial NADP+-dependent isocitrate dehydrogenase complexed with Mn2+ and isocitrate. Insights into the enzyme mechanism.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Ceccarelli C, Grodsky NB, Ariyaratne N, Colman RF, Bahnson BJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "12207025", "url": "https://glygen.org/publication/PubMed/12207025" } ] }, { "title": "Cloning and tissue expression pattern analysis of the human citrate synthase cDNA.", "journal": "Shi Yan Sheng Wu Xue Bao", "date": "2000", "authors": "Liu Q, Yu L, Han X F, Fu Q, Zhang J X, Tang H, Zhao S Y", "evidence": [ { "database": "UniProtKB", "id": "O75390", "url": "https://www.uniprot.org/uniprot/O75390" } ], "reference": [ { "type": "PubMed", "id": "12549038", "url": "https://glygen.org/publication/PubMed/12549038" } ] }, { "title": "Crystal structures of substrate complexes of malic enzyme and insights into the catalytic mechanism.", "journal": "Structure (London, England : 1993)", "date": "2003", "authors": "Tao X, Yang Z, Tong L", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "12962632", "url": "https://glygen.org/publication/PubMed/12962632" } ] }, { "title": "Guanosine triphosphate, the primary product of phosphorylation coupled to the breakdown of succinyl coenzyme A.", "journal": "Biochimica et biophysica acta", "date": "1954", "authors": "SANADI DR, GIBSON M, AYENGAR P", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "13181903", "url": "https://glygen.org/publication/PubMed/13181903" } ] }, { "title": "STUDIES ON SUCCINATE DEHYDROGENASE. I. SPECTRAL PROPERTIES OF THE PURIFIED ENZYME AND FORMATION OF ENZYME-COMPETITIVE INHIBITOR COMPLEXES.", "journal": "Biochimica et biophysica acta", "date": "1964", "authors": "DERVARTANIAN DV, VEEGER C", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "14249115", "url": "https://glygen.org/publication/PubMed/14249115" } ] }, { "title": "Evaluation by mutagenesis of the importance of 3 arginines in alpha, beta, and gamma subunits of human NAD-dependent isocitrate dehydrogenase.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Soundar S, Park JH, Huh TL, Colman RF", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "14555658", "url": "https://glygen.org/publication/PubMed/14555658" } ] }, { "title": "Structure and function of malic enzymes, a new class of oxidative decarboxylases.", "journal": "Biochemistry", "date": "2003", "authors": "Chang GG, Tong L", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "14596586", "url": "https://glygen.org/publication/PubMed/14596586" } ] }, { "title": "Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia.", "journal": "The Journal of cell biology", "date": "2003", "authors": "Atorino L, Silvestri L, Koppen M, Cassina L, Ballabio A, Marconi R, Langer T, Casari G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "14623864", "url": "https://glygen.org/publication/PubMed/14623864" } ] }, { "title": "Organization and function of the small Tim complexes acting along the import pathway of metabolite carriers into mammalian mitochondria.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Muhlenbein N, Hofmann S, Rothbauer U, Bauer MF", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "14726512", "url": "https://glygen.org/publication/PubMed/14726512" } ] }, { "title": "Di- and triphosphopyridine nucleotide isocitric dehydrogenases in yeast.", "journal": "The Journal of biological chemistry", "date": "1951", "authors": "KORNBERG A, PRICER WE Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "14832224", "url": "https://glygen.org/publication/PubMed/14832224" } ] }, { "title": "The inhibitory effects of itaconic acid in vitro and in vivo.", "journal": "The Journal of biological chemistry", "date": "1952", "authors": "BOOTH AN, TAYLOR J, WILSON RH, DEEDS F", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "14946179", "url": "https://glygen.org/publication/PubMed/14946179" } ] }, { "title": "Expression of two succinyl-CoA synthetases with different nucleotide specificities in mammalian tissues.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Lambeth DO, Tews KN, Adkins S, Frohlich D, Milavetz BI", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "15234968", "url": "https://glygen.org/publication/PubMed/15234968" } ] }, { "title": "Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes.", "journal": "Biochem. J.", "date": "2004", "authors": "Aboulaich N, Vainonen JP, Stralfors P, Vener AV", "evidence": [ { "database": "UniProtKB", "id": "O75390", "url": "https://www.uniprot.org/uniprot/O75390" } ], "reference": [ { "type": "PubMed", "id": "15242332", "url": "https://glygen.org/publication/PubMed/15242332" } ] }, { "title": "The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex.", "journal": "Human molecular genetics", "date": "2004", "authors": "Roesch K, Hynds PJ, Varga R, Tranebjaerg L, Koehler CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "15254020", "url": "https://glygen.org/publication/PubMed/15254020" } ] }, { "title": "Crystallography and mutagenesis point to an essential role for the N-terminus of human mitochondrial ClpP.", "journal": "Journal of structural biology", "date": "2004", "authors": "Kang SG, Maurizi MR, Thompson M, Mueser T, Ahvazi B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "15522782", "url": "https://glygen.org/publication/PubMed/15522782" } ] }, { "title": "X-ray structure of fumarylacetoacetate hydrolase family member Homo sapiens FLJ36880.", "journal": "Biological chemistry", "date": "2004", "authors": "Manjasetty BA, Niesen FH, Delbruck H, Gotz F, Sievert V, Bussow K, Behlke J, Heinemann U", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "15551868", "url": "https://glygen.org/publication/PubMed/15551868" } ] }, { "title": "Dissection of the mitochondrial import and assembly pathway for human Tom40.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Humphries AD, Streimann IC, Stojanovski D, Johnston AJ, Yano M, Hoogenraad NJ, Ryan MT", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "15644312", "url": "https://glygen.org/publication/PubMed/15644312" } ] }, { "title": "Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-alpha prolyl hydroxylase.", "journal": "Cancer cell", "date": "2005", "authors": "Selak MA, Armour SM, MacKenzie ED, Boulahbel H, Watson DG, Mansfield KD, Pan Y, Simon MC, Thompson CB, Gottlieb E", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "15652751", "url": "https://glygen.org/publication/PubMed/15652751" } ] }, { "title": "Augmenter of liver regeneration: a flavin-dependent sulfhydryl oxidase with cytochrome c reductase activity.", "journal": "Biochemistry", "date": "2005", "authors": "Farrell SR, Thorpe C", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "15683237", "url": "https://glygen.org/publication/PubMed/15683237" } ] }, { "title": "Cleavage site selection within a folded substrate by the ATP-dependent lon protease.", "journal": "The Journal of biological chemistry", "date": "2005-07-01", "authors": "Ondrovicov\u00e1 Gabriela, Liu Tong, Singh Kamalendra, Tian Bin, Li Hong, Gakh Oleksandr, Perecko Dusan, Janata Jir\u00ed, Granot Zvi, Orly Joseph, Kutejov\u00e1 Eva, Suzuki Carolyn K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "15870080", "url": "https://glygen.org/publication/PubMed/15870080" } ] }, { "title": "Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.", "journal": "American journal of human genetics", "date": "2005", "authors": "Elpeleg O, Miller C, Hershkovitz E, Bitner-Glindzicz M, Bondi-Rubinstein G, Rahman S, Pagnamenta A, Eshhar S, Saada A", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "15877282", "url": "https://glygen.org/publication/PubMed/15877282" } ] }, { "title": "Crystal structure of human dihydrolipoamide dehydrogenase: NAD+/NADH binding and the structural basis of disease-causing mutations.", "journal": "Journal of molecular biology", "date": "2005", "authors": "Brautigam CA, Chuang JL, Tomchick DR, Machius M, Chuang DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "15946682", "url": "https://glygen.org/publication/PubMed/15946682" } ] }, { "title": "Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations.", "journal": "Human molecular genetics", "date": "2005", "authors": "Pollard PJ, Briere JJ, Alam NA, Barwell J, Barclay E, Wortham NC, Hunt T, Mitchell M, Olpin S, Moat SJ, Hargreaves IP, Heales SJ, Chung YL, Griffiths JR, Dalgleish A, McGrath JA, Gleeson MJ, Hodgson SV, Poulsom R, Rustin P, Tomlinson IP", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "15987702", "url": "https://glygen.org/publication/PubMed/15987702" } ] }, { "title": "Human mitochondrial ClpP is a stable heptamer that assembles into a tetradecamer in the presence of ClpX.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Kang SG, Dimitrova MN, Ortega J, Ginsburg A, Maurizi MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "16115876", "url": "https://glygen.org/publication/PubMed/16115876" } ] }, { "title": "Succinate dehydrogenase deficiency in human.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2005", "authors": "Briere JJ, Favier J, El Ghouzzi V, Djouadi F, Benit P, Gimenez AP, Rustin P", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "16143825", "url": "https://glygen.org/publication/PubMed/16143825" } ] }, { "title": "Functional and mutational characterization of human MIA40 acting during import into the mitochondrial intermembrane space.", "journal": "Journal of molecular biology", "date": "2005", "authors": "Hofmann S, Rothbauer U, Muhlenbein N, Baiker K, Hell K, Bauer MF", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "16185709", "url": "https://glygen.org/publication/PubMed/16185709" } ] }, { "title": "Identification of Mn2+-binding aspartates from alpha, beta, and gamma subunits of human NAD-dependent isocitrate dehydrogenase.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Soundar S, O'hagan M, Fomulu KS, Colman RF", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "16737955", "url": "https://glygen.org/publication/PubMed/16737955" } ] }, { "title": "An NADH-tetrazolium-coupled sensitive assay for malate dehydrogenase in mitochondria and crude tissue homogenates.", "journal": "Journal of biochemical and biophysical methods", "date": "2006", "authors": "Luo C, Wang X, Long J, Liu J", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "16740313", "url": "https://glygen.org/publication/PubMed/16740313" } ] }, { "title": "Degradation of the amyloid beta-protein by the novel mitochondrial peptidasome, PreP.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Falkevall A, Alikhani N, Bhushan S, Pavlov PF, Busch K, Johnson KA, Eneqvist T, Tjernberg L, Ankarcrona M, Glaser E", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "16849325", "url": "https://glygen.org/publication/PubMed/16849325" } ] }, { "title": "Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia.", "journal": "Molecular and cellular biology", "date": "2007", "authors": "Koppen M, Metodiev MD, Casari G, Rugarli EI, Langer T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "17101804", "url": "https://glygen.org/publication/PubMed/17101804" } ] }, { "title": "Inhibition of hypoxia-inducible factor (HIF) hydroxylases by citric acid cycle intermediates: possible links between cell metabolism and stabilization of HIF.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Koivunen P, Hirsila M, Remes AM, Hassinen IE, Kivirikko KI, Myllyharju J", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "17182618", "url": "https://glygen.org/publication/PubMed/17182618" } ] }, { "title": "GRIM-19 associates with the serine protease HtrA2 for promoting cell death.", "journal": "Oncogene", "date": "2007", "authors": "Ma X, Kalakonda S, Srinivasula SM, Reddy SP, Platanias LC, Kalvakolanu DV", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "17297443", "url": "https://glygen.org/publication/PubMed/17297443" } ] }, { "title": "Role of alpha-Asp181, beta-Asp192, and gamma-Asp190 in the distinctive subunits of human NAD-specific isocitrate dehydrogenase.", "journal": "Biochemistry", "date": "2007", "authors": "Bzymek KP, Colman RF", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "17432878", "url": "https://glygen.org/publication/PubMed/17432878" } ] }, { "title": "Conserved roles of Sam50 and metaxins in VDAC biogenesis.", "journal": "EMBO reports", "date": "2007", "authors": "Kozjak-Pavlovic V, Ross K, Benlasfer N, Kimmig S, Karlas A, Rudel T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "17510655", "url": "https://glygen.org/publication/PubMed/17510655" } ] }, { "title": "Turnover of mitochondrial steroidogenic acute regulatory (StAR) protein by Lon protease: the unexpected effect of proteasome inhibitors.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2007-09", "authors": "Granot Zvi, Kobiler Oren, Melamed-Book Naomi, Eimerl Sarah, Bahat Assaf, Lu Bin, Braun Sergei, Maurizi Michael R, Suzuki Carolyn K, Oppenheim Amos B, Orly Joseph", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "17579211", "url": "https://glygen.org/publication/PubMed/17579211" } ] }, { "title": "Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion.", "journal": "American journal of human genetics", "date": "2007", "authors": "Ostergaard E, Christensen E, Kristensen E, Mogensen B, Duno M, Shoubridge EA, Wibrand F", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "17668387", "url": "https://glygen.org/publication/PubMed/17668387" } ] }, { "title": "Multiple pathways for sorting mitochondrial precursor proteins.", "journal": "EMBO reports", "date": "2008", "authors": "Bolender N, Sickmann A, Wagner R, Meisinger C, Pfanner N", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "18174896", "url": "https://glygen.org/publication/PubMed/18174896" } ] }, { "title": "Step-size analyses of the mitochondrial Hsp70 import motor reveal the Brownian ratchet in operation.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Yamano K, Kuroyanagi-Hasegawa M, Esaki M, Yokota M, Endo T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "18678864", "url": "https://glygen.org/publication/PubMed/18678864" } ] }, { "title": "Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle.", "journal": "Nature genetics", "date": "2008", "authors": "Hartong DT, Dange M, McGee TL, Berson EL, Dryja TP, Colman RF", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "18806796", "url": "https://glygen.org/publication/PubMed/18806796" } ] }, { "title": "Biosynthesis of tricarboxylic acids by carbon dioxide fixation; enzymatic mechanisms.", "journal": "The Journal of biological chemistry", "date": "1948", "authors": "OCHOA S", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "18914071", "url": "https://glygen.org/publication/PubMed/18914071" } ] }, { "title": "The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency.", "journal": "American journal of human genetics", "date": "2009", "authors": "Di Fonzo A, Ronchi D, Lodi T, Fassone E, Tigano M, Lamperti C, Corti S, Bordoni A, Fortunato F, Nizzardo M, Napoli L, Donadoni C, Salani S, Saladino F, Moggio M, Bresolin N, Ferrero I, Comi GP", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "19409522", "url": "https://glygen.org/publication/PubMed/19409522" } ] }, { "title": "Multiple pathways for mitochondrial protein traffic.", "journal": "Biological chemistry", "date": "2009", "authors": "Endo T, Yamano K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "19453276", "url": "https://glygen.org/publication/PubMed/19453276" } ] }, { "title": "Purification and partial amino acid sequence of human aconitase.", "journal": "Protein sequences & data analysis", "date": "1991", "authors": "Baldwin GS, Seet KL, Callaghan J, Toncich G, Toh BH, Moritz RL, Rubira MR, Simpson R", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "1946331", "url": "https://glygen.org/publication/PubMed/1946331" } ] }, { "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O75390", "url": "https://www.uniprot.org/uniprot/O75390" } ], "reference": [ { "type": "PubMed", "id": "19608861", "url": "https://glygen.org/publication/PubMed/19608861" } ] }, { "title": "Roles of Tom70 in import of presequence-containing mitochondrial proteins.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Yamamoto H, Fukui K, Takahashi H, Kitamura S, Shiota T, Terao K, Uchida M, Esaki M, Nishikawa S, Yoshihisa T, Yamano K, Endo T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "19767391", "url": "https://glygen.org/publication/PubMed/19767391" } ] }, { "title": "Crystal structure of the ATPase domain of the human AAA+ protein paraplegin/SPG7.", "journal": "PloS one", "date": "2009", "authors": "Karlberg T, van den Berg S, Hammarstrom M, Sagemark J, Johansson I, Holmberg-Schiavone L, Schuler H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "19841671", "url": "https://glygen.org/publication/PubMed/19841671" } ] }, { "title": "Human NAD(+)-dependent mitochondrial malic enzyme. cDNA cloning, primary structure, and expression in Escherichia coli.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Loeber G, Infante AA, Maurer-Fogy I, Krystek E, Dworkin MB", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "1993674", "url": "https://glygen.org/publication/PubMed/1993674" } ] }, { "title": "Genetic and biochemical studies of SNPs of the mitochondrial A beta-degrading protease, hPreP.", "journal": "Neuroscience letters", "date": "2010", "authors": "Pinho CM, Bjork BF, Alikhani N, Backman HG, Eneqvist T, Fratiglioni L, Glaser E, Graff C", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "19962426", "url": "https://glygen.org/publication/PubMed/19962426" } ] }, { "title": "Mitochondrial energy-linked nicotinamide nucleotide transhydrogenase. Membrane topography of the bovine enzyme.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Yamaguchi M, Hatefi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "2005110", "url": "https://glygen.org/publication/PubMed/2005110" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O75390", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75390" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Each conserved active site tyr in the three subunits of human isocitrate dehydrogenase has a different function.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Dange M, Colman RF", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "20435888", "url": "https://glygen.org/publication/PubMed/20435888" } ] }, { "title": "Structure of the human sulfhydryl oxidase augmenter of liver regeneration and characterization of a human mutation causing an autosomal recessive myopathy .", "journal": "Biochemistry", "date": "2010", "authors": "Daithankar VN, Schaefer SA, Dong M, Bahnson BJ, Thorpe C", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "20593814", "url": "https://glygen.org/publication/PubMed/20593814" } ] }, { "title": "Decreased proteolytic activity of the mitochondrial amyloid-beta degrading enzyme, PreP peptidasome, in Alzheimer's disease brain mitochondria.", "journal": "Journal of Alzheimer's disease : JAD", "date": "2011", "authors": "Alikhani N, Guo L, Yan S, Du H, Pinho CM, Chen JX, Glaser E, Yan SS", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "21750375", "url": "https://glygen.org/publication/PubMed/21750375" } ] }, { "title": "Structure-function relationships in dihydrolipoamide acyltransferases.", "journal": "The Journal of biological chemistry", "date": "1990", "authors": "Reed LJ, Hackert ML", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "2188967", "url": "https://glygen.org/publication/PubMed/2188967" } ] }, { "title": "YME1L controls the accumulation of respiratory chain subunits and is required for apoptotic resistance, cristae morphogenesis, and cell proliferation.", "journal": "Molecular biology of the cell", "date": "2012", "authors": "Stiburek L, Cesnekova J, Kostkova O, Fornuskova D, Vinsova K, Wenchich L, Houstek J, Zeman J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "22262461", "url": "https://glygen.org/publication/PubMed/22262461" } ] }, { "title": "Substrate recognition and processing by a Walker B mutant of the human mitochondrial AAA+ protein CLPX.", "journal": "Journal of structural biology", "date": "2012", "authors": "Lowth BR, Kirstein-Miles J, Saiyed T, Brotz-Oesterhelt H, Morimoto RI, Truscott KN, Dougan DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "22710082", "url": "https://glygen.org/publication/PubMed/22710082" } ] }, { "title": "In vitro oxidative inactivation of human presequence protease (hPreP).", "journal": "Free radical biology & medicine", "date": "2012", "authors": "Teixeira PF, Pinho CM, Branca RM, Lehtio J, Levine RL, Glaser E", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "23041349", "url": "https://glygen.org/publication/PubMed/23041349" } ] }, { "title": "Phosphorylation of human TFAM in mitochondria impairs DNA binding and promotes degradation by the AAA+ Lon protease.", "journal": "Molecular cell", "date": "2013", "authors": "Lu B, Lee J, Nie X, Li M, Morozov YI, Venkatesh S, Bogenhagen DF, Temiakov D, Suzuki CK", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "23201127", "url": "https://glygen.org/publication/PubMed/23201127" } ] }, { "title": "A small molecule inhibitor of redox-regulated protein translocation into mitochondria.", "journal": "Developmental cell", "date": "2013", "authors": "Dabir DV, Hasson SA, Setoguchi K, Johnson ME, Wongkongkathep P, Douglas CJ, Zimmerman J, Damoiseaux R, Teitell MA, Koehler CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "23597483", "url": "https://glygen.org/publication/PubMed/23597483" } ] }, { "title": "Interaction of presequence peptides with human translocase of inner membrane of mitochondria Tim23.", "journal": "Biochemical and biophysical research communications", "date": "2013", "authors": "Zhang Y, Deng H, Zhao Q, Li SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "23811401", "url": "https://glygen.org/publication/PubMed/23811401" } ] }, { "title": "TRIAP1/PRELI complexes prevent apoptosis by mediating intramitochondrial transport of phosphatidic acid.", "journal": "Cell metabolism", "date": "2013", "authors": "Potting C, Tatsuta T, Konig T, Haag M, Wai T, Aaltonen MJ, Langer T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "23931759", "url": "https://glygen.org/publication/PubMed/23931759" } ] }, { "title": "Mutations to a glycine loop in the catalytic site of human Lon changes its protease, peptidase and ATPase activities.", "journal": "The FEBS journal", "date": "2014", "authors": "Ambro L, Pevala V, Ondrovicova G, Bellova J, Kunova N, Kutejova E, Bauer J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "24520911", "url": "https://glygen.org/publication/PubMed/24520911" } ] }, { "title": "MNRR1 (formerly CHCHD2) is a bi-organellar regulator of mitochondrial metabolism.", "journal": "Mitochondrion", "date": "2015", "authors": "Aras S, Bai M, Lee I, Springett R, Huttemann M, Grossman LI", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "25315652", "url": "https://glygen.org/publication/PubMed/25315652" } ] }, { "title": "Identification of FAH domain-containing protein 1 (FAHD1) as oxaloacetate decarboxylase.", "journal": "The Journal of biological chemistry", "date": "2015", "authors": "Pircher H, von Grafenstein S, Diener T, Metzger C, Albertini E, Taferner A, Unterluggauer H, Kramer C, Liedl KR, Jansen-Durr P", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "25575590", "url": "https://glygen.org/publication/PubMed/25575590" } ] }, { "title": "Quality control of mitochondrial protein synthesis is required for membrane integrity and cell fitness.", "journal": "The Journal of cell biology", "date": "2015", "authors": "Richter U, Lahtinen T, Marttinen P, Suomi F, Battersby BJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "26504172", "url": "https://glygen.org/publication/PubMed/26504172" } ] }, { "title": "Defective PITRM1 mitochondrial peptidase is associated with Abeta amyloidotic neurodegeneration.", "journal": "EMBO molecular medicine", "date": "2016", "authors": "Brunetti D, Torsvik J, Dallabona C, Teixeira P, Sztromwasser P, Fernandez-Vizarra E, Cerutti R, Reyes A, Preziuso C, D'Amati G, Baruffini E, Goffrini P, Viscomi C, Ferrero I, Boman H, Telstad W, Johansson S, Glaser E, Knappskog PM, Zeviani M, Bindoff LA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "26697887", "url": "https://glygen.org/publication/PubMed/26697887" } ] }, { "title": "Reciprocal Degradation of YME1L and OMA1 Adapts Mitochondrial Proteolytic Activity during Stress.", "journal": "Cell reports", "date": "2016", "authors": "Rainbolt TK, Lebeau J, Puchades C, Wiseman RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "26923599", "url": "https://glygen.org/publication/PubMed/26923599" } ] }, { "title": "Immunoresponsive Gene 1 and Itaconate Inhibit Succinate Dehydrogenase to Modulate Intracellular Succinate Levels.", "journal": "The Journal of biological chemistry", "date": "2016", "authors": "Cordes T, Wallace M, Michelucci A, Divakaruni AS, Sapcariu SC, Sousa C, Koseki H, Cabrales P, Murphy AN, Hiller K, Metallo CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "27189937", "url": "https://glygen.org/publication/PubMed/27189937" } ] }, { "title": "Itaconate Links Inhibition of Succinate Dehydrogenase with Macrophage Metabolic Remodeling and Regulation of Inflammation.", "journal": "Cell metabolism", "date": "2016", "authors": "Lampropoulou V, Sergushichev A, Bambouskova M, Nair S, Vincent EE, Loginicheva E, Cervantes-Barragan L, Ma X, Huang SC, Griss T, Weinheimer CJ, Khader S, Randolph GJ, Pearce EJ, Jones RG, Diwan A, Diamond MS, Artyomov MN", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "27374498", "url": "https://glygen.org/publication/PubMed/27374498" } ] }, { "title": "Novel Mechanisms for Heme-dependent Degradation of ALAS1 Protein as a Component of Negative Feedback Regulation of Heme Biosynthesis.", "journal": "The Journal of biological chemistry", "date": "2016", "authors": "Kubota Y, Nomura K, Katoh Y, Yamashita R, Kaneko K, Furuyama K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "27496948", "url": "https://glygen.org/publication/PubMed/27496948" } ] }, { "title": "The m-AAA Protease Associated with Neurodegeneration Limits MCU Activity in Mitochondria.", "journal": "Molecular cell", "date": "2016", "authors": "Konig T, Troder SE, Bakka K, Korwitz A, Richter-Dennerlein R, Lampe PA, Patron M, Muhlmeister M, Guerrero-Castillo S, Brandt U, Decker T, Lauria I, Paggio A, Rizzuto R, Rugarli EI, De Stefani D, Langer T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "27642048", "url": "https://glygen.org/publication/PubMed/27642048" } ] }, { "title": "The role of Lon-mediated proteolysis in the dynamics of mitochondrial nucleic acid-protein complexes.", "journal": "Scientific reports", "date": "2017-04-04", "authors": "Kunov\u00e1 Nina, Ondrovi\u010dov\u00e1 Gabriela, Bauer Jacob A, Bellov\u00e1 Jana, Ambro \u013dubo\u0161, Martin\u00e1kov\u00e1 Lucia, Kotrasov\u00e1 Veronika, Kutejov\u00e1 Eva, Pevala Vladim\u00edr", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "28377575", "url": "https://glygen.org/publication/PubMed/28377575" } ] }, { "title": "Human METTL12 is a mitochondrial methyltransferase that modifies citrate synthase.", "journal": "FEBS letters", "date": "2017", "authors": "Rhein VF, Carroll J, Ding S, Fearnley IM, Walker JE", "evidence": [ { "database": "UniProtKB", "id": "O75390", "url": "https://www.uniprot.org/uniprot/O75390" } ], "reference": [ { "type": "PubMed", "id": "28391595", "url": "https://glygen.org/publication/PubMed/28391595" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75390", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75390" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Uncovering human METTL12 as a mitochondrial methyltransferase that modulates citrate synthase activity through metabolite-sensitive lysine methylation.", "journal": "The Journal of biological chemistry", "date": "2017", "authors": "Malecki J, Jakobsson ME, Ho AYY, Moen A, Rustan AC, Falnes PO", "evidence": [ { "database": "UniProtKB", "id": "O75390", "url": "https://www.uniprot.org/uniprot/O75390" }, { "database": "RefSeq", "id": "NP_004068", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004068" } ], "reference": [ { "type": "PubMed", "id": "28887308", "url": "https://glygen.org/publication/PubMed/28887308" } ] }, { "title": "PARL partitions the lipid transfer protein STARD7 between the cytosol and mitochondria.", "journal": "The EMBO journal", "date": "2018", "authors": "Saita S, Tatsuta T, Lampe PA, Konig T, Ohba Y, Langer T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "29301859", "url": "https://glygen.org/publication/PubMed/29301859" } ] }, { "title": "Dissecting Substrate Specificities of the Mitochondrial AFG3L2 Protease.", "journal": "Biochemistry", "date": "2018", "authors": "Ding B, Martin DW, Rampello AJ, Glynn SE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "29932645", "url": "https://glygen.org/publication/PubMed/29932645" } ] }, { "title": "Multiple domains of bacterial and human Lon proteases define substrate selectivity.", "journal": "Emerging microbes & infections", "date": "2018", "authors": "He L, Luo D, Yang F, Li C, Zhang X, Deng H, Zhang JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "30120231", "url": "https://glygen.org/publication/PubMed/30120231" } ] }, { "title": "Hypoxia/pseudohypoxia-mediated activation of hypoxia-inducible factor-1alpha in cancer.", "journal": "Cancer science", "date": "2019", "authors": "Hayashi Y, Yokota A, Harada H, Huang G", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "30844107", "url": "https://glygen.org/publication/PubMed/30844107" } ] }, { "title": "Comparative studies of Aspergillus fumigatus 2-methylcitrate synthase and human citrate synthase.", "journal": "Biological chemistry", "date": "2019", "authors": "Schlachter CR, Klapper V, Radford T, Chruszcz M", "evidence": [ { "database": "RefSeq", "id": "NP_004068", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004068" } ], "reference": [ { "type": "PubMed", "id": "31141475", "url": "https://glygen.org/publication/PubMed/31141475" } ] }, { "title": "Unique Structural Features of the Mitochondrial AAA+ Protease AFG3L2 Reveal the Molecular Basis for Activity in Health and Disease.", "journal": "Molecular cell", "date": "2019", "authors": "Puchades C, Ding B, Song A, Wiseman RL, Lander GC, Glynn SE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "31327635", "url": "https://glygen.org/publication/PubMed/31327635" } ] }, { "title": "Lipid signalling drives proteolytic rewiring of mitochondria by YME1L.", "journal": "Nature", "date": "2019", "authors": "MacVicar T, Ohba Y, Nolte H, Mayer FC, Tatsuta T, Sprenger HG, Lindner B, Zhao Y, Li J, Bruns C, Kruger M, Habich M, Riemer J, Schwarzer R, Pasparakis M, Henschke S, Bruning JC, Zamboni N, Langer T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "31695197", "url": "https://glygen.org/publication/PubMed/31695197" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75390", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75390" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "Mitochondrial Nuclear Retrograde Regulator 1 (MNRR1) rescues the cellular phenotype of MELAS by inducing homeostatic mechanisms.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2020", "authors": "Aras S, Purandare N, Gladyck S, Somayajulu-Nitu M, Zhang K, Wallace DC, Grossman LI", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "33257573", "url": "https://glygen.org/publication/PubMed/33257573" } ] }, { "title": "Rethinking the Citric Acid Cycle: Connecting Pyruvate Carboxylase and Citrate Synthase to the Flow of Energy and Material.", "journal": "International journal of molecular sciences", "date": "2021", "authors": "Roosterman D, Cottrell GS", "evidence": [ { "database": "RefSeq", "id": "NP_004068", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004068" } ], "reference": [ { "type": "PubMed", "id": "33435350", "url": "https://glygen.org/publication/PubMed/33435350" } ] }, { "title": "Heme-dependent recognition of 5-aminolevulinate synthase by the human mitochondrial molecular chaperone ClpX.", "journal": "FEBS letters", "date": "2021", "authors": "Nomura K, Kitagawa Y, Aihara M, Ohki Y, Furuyama K, Hirokawa T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "34704252", "url": "https://glygen.org/publication/PubMed/34704252" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75390", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75390" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA.", "journal": "Cells", "date": "2021", "authors": "Key J, Torres-Odio S, Bach NC, Gispert S, Koepf G, Reichlmeir M, West AP, Prokisch H, Freisinger P, Newman WG, Shalev S, Sieber SA, Wittig I, Auburger G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "34943861", "url": "https://glygen.org/publication/PubMed/34943861" } ] }, { "title": "Catalytic cycling of human mitochondrial Lon protease.", "journal": "Structure (London, England : 1993)", "date": "2022", "authors": "Mohammed I, Schmitz KA, Schenck N, Balasopoulos D, Topitsch A, Maier T, Abrahams JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "35870450", "url": "https://glygen.org/publication/PubMed/35870450" } ] }, { "title": "The left-lateralisation of citrate synthase activity in the anterior cingulate cortex of male violent suicide victims.", "journal": "European archives of psychiatry and clinical neuroscience", "date": "2023-09", "authors": "Karnecki Karol, \u015awierczy\u0144ski Julian, Steiner Johann, Krzy\u017canowska Marta, Kaliszan Micha\u0142, Gos Tomasz", "evidence": [ { "database": "RefSeq", "id": "NP_004068", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004068" } ], "reference": [ { "type": "PubMed", "id": "36350374", "url": "https://glygen.org/publication/PubMed/36350374" } ] }, { "title": "LONP1 targets HMGCS2 to protect mitochondrial function and attenuate chronic kidney disease.", "journal": "EMBO molecular medicine", "date": "2023-02-08", "authors": "Bai Mi, Wu Mengqiu, Jiang Mingzhu, He Jia, Deng Xu, Xu Shuang, Fan Jiaojiao, Miao Mengqiu, Wang Ting, Li Yuting, Yu Xiaowen, Wang Lin, Zhang Yue, Huang Songming, Yang Li, Jia Zhanjun, Zhang Aihua", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "36629048", "url": "https://glygen.org/publication/PubMed/36629048" } ] }, { "title": "The Novel Role of Mitochondrial Citrate Synthase and Citrate in the Pathophysiology of Alzheimer's Disease.", "journal": "Journal of Alzheimer's disease : JAD", "date": "2023", "authors": "Chhimpa Neeraj, Singh Neha, Puri Nikkita, Kayath Hanuman Prasad", "evidence": [ { "database": "RefSeq", "id": "NP_004068", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004068" } ], "reference": [ { "type": "PubMed", "id": "37393492", "url": "https://glygen.org/publication/PubMed/37393492" } ] }, { "title": "Multiple genes, including a member of the AAA family, are essential for degradation of unassembled subunit 2 of cytochrome c oxidase in yeast mitochondria.", "journal": "Molecular and cellular biology", "date": "1995-08", "authors": "Nakai T, Yasuhara T, Fujiki Y, Ohashi A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "7623837", "url": "https://glygen.org/publication/PubMed/7623837" } ] }, { "title": "Purification, cDNA cloning and heterologous expression of the human mitochondrial NADP(+)-dependent malic enzyme.", "journal": "The Biochemical journal", "date": "1994", "authors": "Loeber G, Maurer-Fogy I, Schwendenwein R", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "7818469", "url": "https://glygen.org/publication/PubMed/7818469" } ] }, { "title": "Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.", "journal": "The Journal of clinical investigation", "date": "1994", "authors": "Bourgeron T, Chretien D, Poggi-Bach J, Doonan S, Rabier D, Letouze P, Munnich A, Rotig A, Landrieu P, Rustin P", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "8200987", "url": "https://glygen.org/publication/PubMed/8200987" } ] }, { "title": "Subunit interactions in the mammalian alpha-ketoglutarate dehydrogenase complex. Evidence for direct association of the alpha-ketoglutarate dehydrogenase and dihydrolipoamide dehydrogenase components.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "McCartney RG, Rice JE, Sanderson SJ, Bunik V, Lindsay H, Lindsay JG", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "9727038", "url": "https://glygen.org/publication/PubMed/9727038" } ] }, { "title": "Characterization of the ATP- and GTP-specific succinyl-CoA synthetases in pigeon. The enzymes incorporate the same alpha-subunit.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Johnson JD, Muhonen WW, Lambeth DO", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "9765290", "url": "https://glygen.org/publication/PubMed/9765290" } ] }, { "title": "Genetic evidence for the expression of ATP- and GTP-specific succinyl-CoA synthetases in multicellular eucaryotes.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Johnson JD, Mehus JG, Tews K, Milavetz BI, Lambeth DO", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "9765291", "url": "https://glygen.org/publication/PubMed/9765291" } ] }, { "title": "Interaction between citrate synthase and malate dehydrogenase. Substrate channeling of oxaloacetate.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Morgunov I, Srere PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "9792662", "url": "https://glygen.org/publication/PubMed/9792662" } ] }, { "title": "Cloning and molecular analysis of the human citrate synthase gene.", "journal": "Genome", "date": "1998", "authors": "Goldenthal MJ, Marin-Garcia J, Ananthakrishnan R", "evidence": [ { "database": "UniProtKB", "id": "O75390", "url": "https://www.uniprot.org/uniprot/O75390" }, { "database": "Reactome", "id": "R-HSA-71403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403" } ], "reference": [ { "type": "PubMed", "id": "9809442", "url": "https://glygen.org/publication/PubMed/9809442" } ] } ], "pathway": [ { "id": "hsa:1431", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1431", "resource": "KEGG Pathway" }, { "id": "R-HSA-1268020", "name": "Mitochondrial protein import", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020", "resource": "Reactome", "description": "Mitochondrial protein import" }, { "id": "R-HSA-71403", "name": "Citric acid cycle (TCA cycle)", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71403", "resource": "Reactome", "description": "Citric acid cycle (TCA cycle)" }, { "id": "R-HSA-9837999", "name": "Mitochondrial protein degradation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999", "resource": "Reactome", "description": "Mitochondrial protein degradation" } ], "orthologs": [ { "uniprot_canonical_ac": "P00890-1", "protein_name": "Citrate synthase, mitochondrial", "gene_name": "CIT1", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MSAILSTTSKSFLSRGSTRQCQNMQKALFALLNARHYSSASEQTLKERFAEIIPAKAEEIKKFKKEHGKTVIGEVLLEQAYGGMRGIKGLVWEGSVLDPEEGIRFRGRTIPEIQRELPKAEGSTEPLPEALFWLLLTGEIPTDAQVKALSADLAARSEIPEHVIQLLDSLPKDLHPMAQFSIAVTALESESKFAKAYAQGVSKKEYWSYTFEDSLDLLGKLPVIASKIYRNVFKDGKITSTDPNADYGKNLAQLLGYENKDFIDLMRLYLTIHSDHEGGNVSAHTTHLVGSALSSPYLSLAAGLNGLAGPLHGRANQEVLEWLFKLREEVKGDYSKETIEKYLWDTLNAGRVVPGYGHAVLRKTDPRYTAQREFALKHFPDYELFKLVSTIYEVAPGVLTKHGKTKNPWPNVDSHSGVLLQYYGLTEASFYTVLFGVARAIGVLPQLIIDRAVGAPIERPKSFSTEKYKELVKKIESKN", "length": 479 }, "evidence": [ { "id": "O75390", "url": "https://omabrowser.org/oma/group/O75390/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q80X68-1", "protein_name": "Citrate synthase", "gene_name": "Csl", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MALLTAAAWFLGTKNPPCLVLAARHASASSTNLKDVLRNLIPKEQARIKTFRKKHGKTVVGQITVDMMYGGMRGMKGLVYETSVLDPDEGIRFRGYSIPECQKLLPKAKGGKEPLPEGLFWLLVTGQMPTEEQVSWLSQEWVKRAALPSHVVTMLDNFPTKLHPMSQLSAAITVLNNESNFARAYAQGMNRTKYWELTYEDCMDLLAKLPCVAAKIYRNLYREDRNIEAIDSKLDWSHNFTNMLGYTDPQFTELMRLYLTIHSDHEGGNVSAHTSHLVGSALSDPYLSFAAALNGLAGPLHGLANQEVLVWLTQLQKEVGEDASDEKLKNYIWNTLNSGRVVPGYGHAVLRKTDPRYSCQREFALKHLPKDPMFKLVGQLYKIVPDILLEQGKAKNPWPNVDAHSGVLLQYYGMREMNYYTVLFGVSRALGVLSQLIWSRALGFPLERPKSMSTDALMKFVNSESG", "length": 466 }, "evidence": [ { "id": "45929719", "url": "http://www.informatics.jax.org/homology/45929719", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q8VHF5-1", "protein_name": "Citrate synthase, mitochondrial", "gene_name": "Cs", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MALLTAAARLLGAKNSSCLVLAARHASASSTNLKDILSNLIPKEQARVKTFRQQHGKTVVGQITVDMMYGGMRGMKGLVYETSVLDPDEGIRFRGYSIPECQKLLPKAKGGEEPLPEGLFWLLVTGQMPTEEQVSWLSQEWAKRAALPSHVVTMLDNFPTNLHPMSQLSAAITALNSESNFARAYAEGINRTKYWELIYEDCMDLIAKLPCVAAKIYRNLYREGSSIGAIDSKLDWSHNFTNMLCYTEPQFTELMRLYLTIHSDHDGGNVSAHTSHLVGSALSDTYLSFAAAMNGLAGPLHGLANQEVLVWLTQLQKEVGKDVSDEKLRDYIWNTLNSGRVVPGYGHAVLRKTDPRYSCQREFALKHLPKDPMFKLVAQLYKIVPNILLEQGKAKNPWPNVDAHSGVLLQYYGMTEMNYYTVLFGVSRALGVLAQLIWSRALGFPLERPKSMSTDGLMKFVDSKSG", "length": 466 }, "evidence": [ { "id": "45929720", "url": "http://www.informatics.jax.org/homology/45929720", "database": "MGI" }, { "id": "45929719", "url": "http://www.informatics.jax.org/homology/45929719", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9CZU6-1", "protein_name": "Citrate synthase, mitochondrial", "gene_name": "Cs", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MALLTAATRLLGAKNSSCLVLAARHASASSTNLKDVLSNLIPKEQARIKTFKQQHGKTVVGQITVDMMYGGMRGMKGLVYETSVLDPDEGIRFRGYSIPECQKMLPKAKGGEEPLPEGLFWLLVTGQMPTEEQVSWLSREWAKRAALPSHVVTMLDNFPTNLHPMSQLSAAITALNSESNFARAYAEGMNRAKYWELIYEDCMDLIAKLPCVAAKIYRNLYREGSSIGAIDSRLDWSHNFTNMLGYTDPQFTELMRLYLTIHSDHEGGNVSAHTSHLVGSALSDPYLSFAAAMNGLAGPLHGLANQEVLVWLTQLQKEVGKDVSDEKLRDYIWNTLNSGRVVPGYGHAVLRKTDPRYSCQREFALKHLPKDPMFKLVAQLYKIVPNILLEQGKAKNPWPNVDAHSGVLLQYYGMTEMNYYTVLFGVSRALGVLAQLIWSRALGFPLERPKSMSTDGLMKFVDSK", "length": 464 }, "evidence": [ { "id": "45929720", "url": "http://www.informatics.jax.org/homology/45929720", "database": "MGI" }, { "id": "O75390", "url": "https://omabrowser.org/oma/group/O75390/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9W401-1", "protein_name": "Probable citrate synthase, mitochondrial", "gene_name": "kdn", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MSLYRISARKLSEAQKLPNVGAYVRMIAADGKSLRDVLAAKVPQEQERVKNFRKQHGATKMGETTIDMMYGGMRGIKALVTETSVLDADEGIRFRGLSIPECQKVLPAADGGTEPLPEGLFWLLLTGEVPTKSQVQQLSREWAERAALPQHVVTMLNNMPTTLHPMSQFAAAVTALNHDSKFAKAYSDGVHKSKYWEYVYEDSMDLIAKLPVVAATIYCNTYRGGKGSRSIDSSLDWSANFVKMLGYDNAPFTELMRLYLTIHSDHEGGNVSAHTVHLVGSALSDPYLSFAAGLNGLAGPLHGLANQEVLVWLRKLQKEAGNNPSEEQLKEYIWKTLKSGQVVPGYGHAVLRKTDPRYTCQREFALKHLPEDETFQLVSKIYKVVPPILTETGKVKNPWPNVDAHSGVLLQYYGMKEMNYYTVLFGVSRALGVLASLVWDRALGLPIERPKSFSTDLLVKMVQK", "length": 464 }, "evidence": [ { "id": "O75390", "url": "https://omabrowser.org/oma/group/O75390/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "citrate (Si)-synthase activity", "id": "GO:0004108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004108", "evidence": [ { "database": "UniProtKB", "id": "O75390", "url": "https://www.uniprot.org/uniprot/O75390" } ], "pmid": "" }, { "name": "acyltransferase activity, acyl groups converted into alkyl on transfer", "id": "GO:0046912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046912", "evidence": [ { "database": "UniProtKB", "id": "O75390", "url": "https://www.uniprot.org/uniprot/O75390" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "O75390", "url": "https://www.uniprot.org/uniprot/O75390" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O75390", "url": "https://www.uniprot.org/uniprot/O75390" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "O75390", "url": "https://www.uniprot.org/uniprot/O75390" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O75390", "url": "https://www.uniprot.org/uniprot/O75390" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "O75390", "url": "https://www.uniprot.org/uniprot/O75390" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O75390", "url": "https://www.uniprot.org/uniprot/O75390" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "tricarboxylic acid cycle", "id": "GO:0006099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006099", "evidence": [ { "database": "UniProtKB", "id": "O75390", "url": "https://www.uniprot.org/uniprot/O75390" } ], "pmid": "" }, { "name": "citrate metabolic process", "id": "GO:0006101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006101", "evidence": [ { "database": "UniProtKB", "id": "O75390", "url": "https://www.uniprot.org/uniprot/O75390" } ], "pmid": "" }, { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "O75390", "url": "https://www.uniprot.org/uniprot/O75390" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 15, "end_pos": 17, "annotation": "n_glycosylation_sequon" }, { "start_pos": 239, "end_pos": 241, "annotation": "n_glycosylation_sequon" }, { "start_pos": 269, "end_pos": 271, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Methylated (PubMed:28391595, PubMed:28887308). Trimethylation at Lys-395 by CSKMT decreases citrate synthase activity (PubMed:28887308).", "evidence": [ { "database": "UniProtKB", "id": "O75390", "url": "https://www.uniprot.org/uniprot/O75390" }, { "database": "PubMed", "id": "28391595", "url": "https://glygen.org/publication/PubMed/28391595" }, { "database": "PubMed", "id": "28887308", "url": "https://glygen.org/publication/PubMed/28887308" } ] } ], "interactions": [], "reactions": [ { "id": "16845", "name": "", "equation": "acetyl-CoA + H2O + oxaloacetate = citrate + CoA + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q8VHF5-1", "O75390-1", "Q9CZU6-1", "P00890-1", "P08679-1", "P43635-1", "Q553V1-1", "Q86AV6-1", "Q8MQU6-1", "Q9W401-1" ], "evidence": [ { "id": "16845", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/16845" } ] }, { "id": "R-HSA-1268022", "name": "TOMM40 complex translocates proteins from the cytosol to the mitochondrial intermembrane space", "equation": "", "summary": "As inferred from the yeast TOM40:TOM70 complex, the human TOMM40:TOMM70 complex transports precursor proteins from the cytosol, across the outer membrane of the mitochondrion, and into the intermembrane space from where they may be targeted to all locations within the mitochondrion. As inferred from yeast, TOMM40, TOMM22, TOMM5, TOMM6, and TOMM7 probably form the general import pore across the membrane. On the cytosolic side TOMM20 and TOMM22 interact with presequences on mitochondrial precursors while TOMM70 interacts with hydrophobic sequences in mature internal regions of mitochondrial proteins.
In yeast, experimentally verified substrates of the TOM40:TOM70 complex include ATP1 (ATP5A1 in human), ATP2 (ATP5B in human), ATP9 (ATP5G1 in human), TOM40 (TOMM40 in human), SSC1 (mtHsp70, HSPA9 in human), CIT1 (CS in human), ACO1 (ACO2 in human), IDH1 (IDH3G in human), BCS1 (BCS1L in human), CYT1 (CYC1 in human), TIM54 (TIMM54 in human), TIM22 (TIMM22 in human), AAC (ADP/ATP translocase 1, ANT, SLC25A4 in human), HSP60, and CYB2. In humans, TOMM40 has been shown to be a substrate (Humphries et al. 2005). In yeast some proteins such as ACO1, ATP1, CIT1, IDH1, and ATP2 contain both presequences that interact with TOM20 and mature regions that interact with TOM70 (Yamamoto et al. 2009). Most proteins imported into mitochondria are anticipated to be transported through the TOMM40:TOMM70 complex.", "cellular_location": "cytosol, mitochondrial intermembrane space, mitochondrial outer membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75390-1", "Q99798-1", "P06576-1", "P08574-1", "P10809-1" ], "evidence": [ { "id": "R-HSA-1268022", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268022" } ] }, { "id": "R-HSA-70975", "name": "Acetyl-CoA + H2O + Oxaloacetate => Citrate + CoA", "equation": "", "summary": "Mitochondrial citrate synthase dimer catalyzes the irreversible reaction of acetyl-CoA, water, and oxaloacetate to form citrate and coenzyme A. This reaction is the entry point of two-carbon units into the citric acid cycle. The reaction is subject to allosteric regulation. The gene encoding the human enzyme has been cloned (Goldenthal et al. 1998), but the enzyme has not been characterized in detail - its properties are inferred from those of the well-studied homologous pig enzyme (e.g., Morgunov and Srere 1998).", "cellular_location": "mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75390-1" ], "evidence": [ { "id": "R-HSA-70975", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70975" } ] }, { "id": "R-HSA-9838035", "name": "CLPXP binds mitochondrial matrix proteins", "equation": "", "summary": "The CLPXP complex is an ATP-dependent protease located in the mitochondrial matrix that binds, unfolds, and degrades a specific set of protein substrates. The CLPXP complex comprises two heptameric rings of CLPP protease subunits and two hexameric rings of CLPX ATPase subunits (Kang et al. 2002, 2005). Upon binding the CLPXP complex, substrate proteins are unfolded by CLPX in an ATP-dependent reaction and translocated to the CLPP protease (reviewed in Baker and Sauer 2012, Liu et al. 2014). The CLPXP complex interacts with more than 200 mitochondrial proteins (Cole et al. 2015, Ishizawa et al. 2019, Mabanglo et al. 2022) and degrades several mitochondrial matrix proteins (Lee et al. 2021, Key et al. 2021), including ERAL1, a putative 12S rRNA chaperone (inferred from mouse homologs in Szczepanowska et al. 2016, Key et al. 2022) and heme-bound ALAS1 (Kubota et al. 2016, Nomura et al. 2021). CLPXP can also regulate proteins involved in bioenergetics such as components of the electron transport chain suggesting that it can regulate proteins in the inner mitochondrial membrane (Seo et al. 2016, Ishizawa et al. 2019, Mabanglo et al. 2022). CLPXP is also thought to be involved in the mitochondrial unfolded protein response (inferred from C. elegans homologs in Haynes et al. 2007 and mouse homologs in Lian et al. 2023).", "cellular_location": "mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75390-1", "Q96I99-1", "P28331-1", "Q02218-1", "P48735-1", "P07954-1", "O75489-1", "P49753-1", "Q99798-1", "P06576-1", "Q9UKU7-1", "P30837-1", "P05091-1", "P78540-1", "Q16740-1", "P22830-1", "Q9NWU1-1", "P55809-1", "P09622-1", "P42126-1", "Q13011-1", "P10809-1", "P13196-1", "Q02338-1", "P08559-1", "P11177-1", "P24752-1", "P40926-1", "P50213-1", "P23368-1", "Q16836-1", "Q15118-1" ], "evidence": [ { "id": "R-HSA-9838035", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9838035" } ] }, { "id": "R-HSA-9838081", "name": "LONP1 degrades mitochondrial matrix proteins", "equation": "", "summary": "ATP hydrolysis drives translocation of the substrate protein to the active site of LONP1 (Ambro et al. 2014, Mohammed et al. 2022) where it induces the active conformation of LONP1 (Shin et al. 2021). LONP1 predominantly cleaves peptide bonds adjacent to hydrophobic amino acid residues (He et al. 2018). LONP1 degrades several mitochondrial matrix proteins (Lee et al. 2021), including steroidogenic acute regulatory protein (STAR) (Ondrovicova et al. 2005), the helicase TWNK (Twinkle, PEO1) (Kunova et al. 2017), oxidized aconitase (ACO2) (Bota and Davies 2002), HMGCS2 (Bai et al. 2023), and unassembled ribosomal subunits (Kunova et al. 2017). Phosphorylation of the HMG1 domain of TFAM prevents DNA binding and LONP1 specifically degrades TFAM that is not bound to DNA (Lu et al. 2013). LONP1 in association with mtHSP70 also possesses an ATP-dependent chaperone (protein folding) activity that is independent of its protease activity (Shin et al. 2021, Matsushima et al. 2021). A dominant mutation in LONP1 (c.901C>T; p.R301W) causes excessive protease activity and reduced chaperone activity that results in reduced mitochondrial function and encephalopathy (Besse et al. 2020). Mutations in LONP1 cause cerebral, ocular, dental, auricular, and skeletal anomalies (CODAS) syndrome (MIM 600373) (Dikoglu et al. 2015, Strauss et al. 2015).", "cellular_location": "mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75390-1", "P54868-1", "P28331-1", "Q02218-1", "P07954-1", "Q4G0N4-1", "P11182-1", "P49753-1", "Q99714-1", "Q99798-1", "P45954-1", "P06576-1", "Q9UKU7-1", "P30837-1", "P05091-1", "P78540-1", "P22830-1", "Q9NWU1-1", "Q96RR1-1", "P55809-1", "P42126-1", "Q13011-1", "P10809-1", "P00367-1", "P36776-1", "P11177-1", "P24752-1", "P40926-1", "P05166-1", "P23368-1", "Q16836-1", "Q15118-1", "Q9NSE4-1" ], "evidence": [ { "id": "R-HSA-9838081", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9838081" } ] }, { "id": "R-HSA-9838093", "name": "LONP1 binds mitochondrial matrix proteins", "equation": "", "summary": "LONP1 binds substrate proteins and degrades them using an ATP-dependent mechanism (Mohammed et al. 2022). The binding of proteins to LONP1 can allosterically stimulate its ATPase activity (inferred from bacterial Lon proteases in Waxman et al. 1986, Lin et al. 2016). Human LONP1 binds, unfolds, and degrades several mitochondrial matrix proteins (Lee et al. 2021), including oxidized aconitase in which hydrophobic regions are exposed (Bota and Davies 2002). However, LONP1 is unable to degrade aggregated oxidized aconitase (Bota and Davies 2002). Steroidogenic acute regulatory protein (STAR) is directed to the mitochondrial matrix for degradation by LONP1 and other proteases (Ondrovicova et al. 2005, Granot et al. 2007). The mitochondrial large ribosome subunit MRPL32 is degraded by LONP1 when MRPL32 is not incorporated in the ribosome and hence not bound to nucleic acid (Kunova et al. 2017). Other ribosomal subunits appear to be similarly degraded (Kunova et al. 2017). The helicase TWNK (Twinkle, PEO1) is degraded by LONP1 regardless of its association with nucleic acid (Kunova et al. 2017). Other substrates of LONP1 may include SSBP1, MTERFD3, FASTKD2, and CLPX (Rend\u00f3n and Shoubridge 2018).", "cellular_location": "mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75390-1", "P54868-1", "P28331-1", "Q02218-1", "P07954-1", "Q4G0N4-1", "P11182-1", "P49753-1", "Q99714-1", "Q99798-1", "P45954-1", "P06576-1", "Q9UKU7-1", "P30837-1", "P05091-1", "P78540-1", "P22830-1", "Q9NWU1-1", "Q96RR1-1", "P55809-1", "P42126-1", "Q13011-1", "P10809-1", "P00367-1", "P36776-1", "P11177-1", "P24752-1", "P40926-1", "P05166-1", "P23368-1", "Q16836-1", "Q15118-1", "Q9NSE4-1" ], "evidence": [ { "id": "R-HSA-9838093", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9838093" } ] }, { "id": "R-HSA-9838289", "name": "CLPXP degrades mitochondrial matrix proteins", "equation": "", "summary": "The CLPXP complex comprises two heptameric rings of the barrel-shaped CLPP protease and two hexameric rings of the AAA+ CLPX ATPase (Kang et al. 2002, 2005). Though isolated CLPP subunits have peptidase activity, they only have significant protease activity when complexed with CLPX (Kang et al. 2005). The CLPX subunit unfolds proteins so they can enter the axial pore of the CLPP protease (reviewed in Baker and Sauer 2012, Liu et al. 2014). The CLPXP complex binds and degrades several mitochondrial matrix proteins (Lee et al. 2021, Key et al. 2021), including ALAS1 bound to heme (Kubota et al. 2016, Nomura et al. 2021). CLPXP can also regulate proteins involved in bioenergetics such as components of the electron transport chain suggesting that it can regulate proteins in the inner mitochondrial membrane (Seo et al. 2016, Ishizawa et al. 2019, Mabanglo et al. 2022). CLPXP is thought to be involved in the mitochondrial unfolded protein response (inferred from C. elegans homologs in Haynes et al. 2007 and mouse homologs in Lian et al. 2023). Peptides produced by CLPXP are transported from the mitochondria into the cytosol and activate ATF5 (ATFS-1 in C. elegans). ATF5 subsequently translocates to the nucleus where it enhances the expression of mitochondrial proteases (CLPP and LONP1) and chaperones (HSP60 and GRP75) to restore proteostasis (inferred from C. elegans homologs in Haynes et al. 2010, inferred from mouse homologs in Deepa et al. 2016, Fiorese et al. 2016, inferred from rat homologs in Lian et al. 2023). Recessive mutations in the CLPP subunit of the CLPXP complex cause Perreault Syndrome, which is characterized by congenital sensorineural loss, ataxia, azoospermia (male infertility), ovarian failure, psychomotor retardation, ataxia, autism and epilepsy (Jenkinson et al. 2013, Demain et al. 2017, Faridi et al. 2022).", "cellular_location": "mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75390-1", "Q96I99-1", "P28331-1", "Q02218-1", "P48735-1", "P07954-1", "O75489-1", "P49753-1", "Q99798-1", "P06576-1", "Q9UKU7-1", "P30837-1", "P05091-1", "P78540-1", "Q16740-1", "P22830-1", "Q9NWU1-1", "P55809-1", "P09622-1", "P42126-1", "Q13011-1", "P10809-1", "P13196-1", "Q02338-1", "P08559-1", "P11177-1", "P24752-1", "P40926-1", "P50213-1", "P23368-1", "Q16836-1", "Q15118-1" ], "evidence": [ { "id": "R-HSA-9838289", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9838289" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "O75390", "gene_name": "CS", "activity": [ { "ec_number": "2.3.3.1", "activity": "acetyl-CoA + H2O + oxaloacetate = citrate + CoA + H(+).", "evidence": [ { "id": "O75390", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75390" } ] }, { "ec_number": "2.3.3.1", "activity": "", "evidence": [ { "id": "O75390", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75390" } ] } ] }, { "uniprot_ac": "O75489", "gene_name": "NDUFS3", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "O75489", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75489" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "O75489", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75489" } ] } ] }, { "uniprot_ac": "P00367", "gene_name": "GLUD1", "activity": [ { "ec_number": "1.4.1.3", "activity": "H2O + L-glutamate + NAD(+) = 2-oxoglutarate + H(+) + NADH + NH4(+).", "evidence": [ { "id": "P00367", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00367" } ] }, { "ec_number": "1.4.1.3", "activity": "", "evidence": [ { "id": "P00367", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00367" } ] } ] }, { "uniprot_ac": "P00890", "gene_name": "CIT1", "activity": [ { "ec_number": "2.3.3.1", "activity": "acetyl-CoA + H2O + oxaloacetate = citrate + CoA + H(+).", "evidence": [ { "id": "P00890", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00890" } ] }, { "ec_number": "2.3.3.1", "activity": "", "evidence": [ { "id": "P00890", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00890" } ] } ] }, { "uniprot_ac": "P05091", "gene_name": "ALDH2", "activity": [ { "ec_number": "1.2.1.3", "activity": "an aldehyde + H2O + NAD(+) = a carboxylate + 2 H(+) + NADH.", "evidence": [ { "id": "P05091", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05091" } ] }, { "ec_number": "1.2.1.3", "activity": "", "evidence": [ { "id": "P05091", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05091" } ] } ] }, { "uniprot_ac": "P05166", "gene_name": "PCCB", "activity": [ { "ec_number": "6.4.1.3", "activity": "ATP + hydrogencarbonate + propanoyl-CoA = (S)-methylmalonyl-CoA + ADP + H(+) + phosphate.", "evidence": [ { "id": "P05166", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05166" } ] }, { "ec_number": "6.4.1.3", "activity": "", "evidence": [ { "id": "P05166", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05166" } ] } ] }, { "uniprot_ac": "P06576", "gene_name": "ATP5F1B", "activity": [ { "ec_number": "7.1.2.2", "activity": "ATP + 4 H(+)(in) + H2O = ADP + 5 H(+)(out) + phosphate.", "evidence": [ { "id": "P06576", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06576" } ] }, { "ec_number": "7.1.2.2", "activity": "", "evidence": [ { "id": "P06576", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06576" } ] } ] }, { "uniprot_ac": "P07954", "gene_name": "FH", "activity": [ { "ec_number": "4.2.1.2", "activity": "(S)-malate = fumarate + H2O.", "evidence": [ { "id": "P07954", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07954" } ] }, { "ec_number": "4.2.1.2", "activity": "", "evidence": [ { "id": "P07954", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07954" } ] } ] }, { "uniprot_ac": "P08559", "gene_name": "PDHA1", "activity": [ { "ec_number": "1.2.4.1", "activity": "H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase] + pyruvate = CO2 + N(6)-[(R)-S(8)-acetyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase].", "evidence": [ { "id": "P08559", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08559" } ] }, { "ec_number": "1.2.4.1", "activity": "", "evidence": [ { "id": "P08559", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08559" } ] } ] }, { "uniprot_ac": "P08574", "gene_name": "CYC1", "activity": [ { "ec_number": "7.1.1.8", "activity": "a quinol + 2 Fe(III)-[cytochrome c](out) = a quinone + 2 Fe(II)-[cytochrome c](out) + 2 H(+)(out).", "evidence": [ { "id": "P08574", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08574" } ] }, { "ec_number": "7.1.1.8", "activity": "", "evidence": [ { "id": "P08574", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08574" } ] } ] }, { "uniprot_ac": "P08679", "gene_name": "CIT2", "activity": [ { "ec_number": "2.3.3.16", "activity": "acetyl-CoA + H2O + oxaloacetate = citrate + CoA + H(+).", "evidence": [ { "id": "P08679", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08679" } ] }, { "ec_number": "2.3.3.16", "activity": "", "evidence": [ { "id": "P08679", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08679" } ] } ] }, { "uniprot_ac": "P09622", "gene_name": "DLD", "activity": [ { "ec_number": "1.8.1.4", "activity": "N(6)-[(R)-dihydrolipoyl]-L-lysyl-[protein] + NAD(+) = H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[protein] + NADH.", "evidence": [ { "id": "P09622", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09622" } ] }, { "ec_number": "1.8.1.4", "activity": "", "evidence": [ { "id": "P09622", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09622" } ] } ] }, { "uniprot_ac": "P10809", "gene_name": "HSPD1", "activity": [ { "ec_number": "5.6.1.7", "activity": "ATP + H2O + a folded polypeptide = ADP + phosphate + an unfolded polypeptide.", "evidence": [ { "id": "P10809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10809" } ] }, { "ec_number": "5.6.1.7", "activity": "", "evidence": [ { "id": "P10809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10809" } ] } ] }, { "uniprot_ac": "P11177", "gene_name": "PDHB", "activity": [ { "ec_number": "1.2.4.1", "activity": "H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase] + pyruvate = CO2 + N(6)-[(R)-S(8)-acetyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase].", "evidence": [ { "id": "P11177", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11177" } ] }, { "ec_number": "1.2.4.1", "activity": "", "evidence": [ { "id": "P11177", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11177" } ] } ] }, { "uniprot_ac": "P11182", "gene_name": "DBT", "activity": [ { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "P11182", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11182" } ] }, { "ec_number": "2.3.1.168", "activity": "2-methylpropanoyl-CoA + N(6)-[(R)-dihydrolipoyl]-L-lysyl-[protein] = CoA + N(6)-[(R)-S(8)-2-methylpropanoyldihydrolipoyl]-L-lysyl-[protein].", "evidence": [ { "id": "P11182", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11182" } ] }, { "ec_number": "2.3.1.168", "activity": "", "evidence": [ { "id": "P11182", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11182" } ] } ] }, { "uniprot_ac": "P13196", "gene_name": "ALAS1", "activity": [ { "ec_number": "2.3.1.37", "activity": "glycine + H(+) + succinyl-CoA = 5-aminolevulinate + CO2 + CoA.", "evidence": [ { "id": "P13196", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13196" } ] }, { "ec_number": "2.3.1.37", "activity": "", "evidence": [ { "id": "P13196", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13196" } ] } ] }, { "uniprot_ac": "P22830", "gene_name": "FECH", "activity": [ { "ec_number": "4.98.1.1", "activity": "2 H(+) + heme b = Fe(2+) + protoporphyrin IX.", "evidence": [ { "id": "P22830", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22830" } ] }, { "ec_number": "4.98.1.1", "activity": "", "evidence": [ { "id": "P22830", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22830" } ] } ] }, { "uniprot_ac": "P23368", "gene_name": "ME2", "activity": [ { "ec_number": "1.1.1.38", "activity": "H(+) + oxaloacetate = CO2 + pyruvate.", "evidence": [ { "id": "P23368", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23368" } ] }, { "ec_number": "1.1.1.38", "activity": "", "evidence": [ { "id": "P23368", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23368" } ] } ] }, { "uniprot_ac": "P24752", "gene_name": "ACAT1", "activity": [ { "ec_number": "2.3.1.9", "activity": "2 acetyl-CoA = acetoacetyl-CoA + CoA.", "evidence": [ { "id": "P24752", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24752" } ] }, { "ec_number": "2.3.1.9", "activity": "", "evidence": [ { "id": "P24752", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24752" } ] } ] }, { "uniprot_ac": "P28331", "gene_name": "NDUFS1", "activity": [ { "ec_number": "7.1.1.2", "activity": "a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+).", "evidence": [ { "id": "P28331", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28331" } ] }, { "ec_number": "7.1.1.2", "activity": "", "evidence": [ { "id": "P28331", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28331" } ] } ] }, { "uniprot_ac": "P30837", "gene_name": "ALDH1B1", "activity": [ { "ec_number": "1.2.1.3", "activity": "an aldehyde + H2O + NAD(+) = a carboxylate + 2 H(+) + NADH.", "evidence": [ { "id": "P30837", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30837" } ] }, { "ec_number": "1.2.1.3", "activity": "", "evidence": [ { "id": "P30837", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30837" } ] } ] }, { "uniprot_ac": "P36776", "gene_name": "LONP1", "activity": [ { "ec_number": "3.4.21.53", "activity": "Hydrolysis of proteins in presence of ATP.", "evidence": [ { "id": "P36776", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36776" } ] }, { "ec_number": "3.4.21.53", "activity": "", "evidence": [ { "id": "P36776", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36776" } ] } ] }, { "uniprot_ac": "P40926", "gene_name": "MDH2", "activity": [ { "ec_number": "1.1.1.37", "activity": "(S)-malate + NAD(+) = H(+) + NADH + oxaloacetate.", "evidence": [ { "id": "P40926", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40926" } ] }, { "ec_number": "1.1.1.37", "activity": "", "evidence": [ { "id": "P40926", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40926" } ] } ] }, { "uniprot_ac": "P42126", "gene_name": "ECI1", "activity": [ { "ec_number": "5.3.3.8", "activity": "a (3Z)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA.", "evidence": [ { "id": "P42126", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42126" } ] }, { "ec_number": "5.3.3.8", "activity": "", "evidence": [ { "id": "P42126", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42126" } ] } ] }, { "uniprot_ac": "P43635", "gene_name": "CIT3", "activity": [ { "ec_number": "2.3.3.1", "activity": "acetyl-CoA + H2O + oxaloacetate = citrate + CoA + H(+).", "evidence": [ { "id": "P43635", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43635" } ] }, { "ec_number": "2.3.3.1", "activity": "", "evidence": [ { "id": "P43635", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43635" } ] } ] }, { "uniprot_ac": "P45954", "gene_name": "ACADSB", "activity": [ { "ec_number": "1.3.8.5", "activity": "2-methylbutanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E)-2-methylbut-2-enoyl-CoA + reduced [electron-transfer flavoprotein].", "evidence": [ { "id": "P45954", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P45954" } ] }, { "ec_number": "1.3.8.5", "activity": "", "evidence": [ { "id": "P45954", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P45954" } ] } ] }, { "uniprot_ac": "P48735", "gene_name": "IDH2", "activity": [ { "ec_number": "1.1.1.42", "activity": "D-threo-isocitrate + NADP(+) = 2-oxoglutarate + CO2 + NADPH.", "evidence": [ { "id": "P48735", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P48735" } ] }, { "ec_number": "1.1.1.42", "activity": "", "evidence": [ { "id": "P48735", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P48735" } ] } ] }, { "uniprot_ac": "P49753", "gene_name": "ACOT2", "activity": [ { "ec_number": "3.1.2.2", "activity": "H2O + hexadecanoyl-CoA = CoA + H(+) + hexadecanoate.", "evidence": [ { "id": "P49753", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49753" } ] }, { "ec_number": "3.1.2.2", "activity": "", "evidence": [ { "id": "P49753", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49753" } ] } ] }, { "uniprot_ac": "P50213", "gene_name": "IDH3A", "activity": [ { "ec_number": "1.1.1.41", "activity": "D-threo-isocitrate + NAD(+) = 2-oxoglutarate + CO2 + NADH.", "evidence": [ { "id": "P50213", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50213" } ] }, { "ec_number": "1.1.1.41", "activity": "", "evidence": [ { "id": "P50213", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50213" } ] } ] }, { "uniprot_ac": "P54868", "gene_name": "HMGCS2", "activity": [ { "ec_number": "2.3.3.10", "activity": "acetoacetyl-CoA + acetyl-CoA + H2O = (3S)-hydroxy-3-methylglutaryl-CoA + CoA + H(+).", "evidence": [ { "id": "P54868", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54868" } ] }, { "ec_number": "2.3.3.10", "activity": "", "evidence": [ { "id": "P54868", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54868" } ] } ] }, { "uniprot_ac": "P55809", "gene_name": "OXCT1", "activity": [ { "ec_number": "2.8.3.5", "activity": "a 3-oxo acid + succinyl-CoA = a 3-oxoacyl-CoA + succinate.", "evidence": [ { "id": "P55809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55809" } ] }, { "ec_number": "2.8.3.5", "activity": "", "evidence": [ { "id": "P55809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55809" } ] } ] }, { "uniprot_ac": "P78540", "gene_name": "ARG2", "activity": [ { "ec_number": "3.5.3.1", "activity": "H2O + L-arginine = L-ornithine + urea.", "evidence": [ { "id": "P78540", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P78540" } ] }, { "ec_number": "3.5.3.1", "activity": "", "evidence": [ { "id": "P78540", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P78540" } ] } ] }, { "uniprot_ac": "Q02218", "gene_name": "OGDH", "activity": [ { "ec_number": "1.2.4.2", "activity": "2-oxoglutarate + H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue succinyltransferase] = CO2 + N(6)-[(R)-S(8)-succinyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue succinyltransferase].", "evidence": [ { "id": "Q02218", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q02218" } ] }, { "ec_number": "1.2.4.2", "activity": "", "evidence": [ { "id": "Q02218", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q02218" } ] } ] }, { "uniprot_ac": "Q02338", "gene_name": "BDH1", "activity": [ { "ec_number": "1.1.1.30", "activity": "(R)-3-hydroxybutanoate + NAD(+) = acetoacetate + H(+) + NADH.", "evidence": [ { "id": "Q02338", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q02338" } ] }, { "ec_number": "1.1.1.30", "activity": "", "evidence": [ { "id": "Q02338", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q02338" } ] } ] }, { "uniprot_ac": "Q13011", "gene_name": "ECH1", "activity": [ { "ec_number": "5.3.3.-", "activity": "", "evidence": [ { "id": "Q13011", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13011" } ] } ] }, { "uniprot_ac": "Q15118", "gene_name": "PDK1", "activity": [ { "ec_number": "2.7.11.-", "activity": "", "evidence": [ { "id": "Q15118", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15118" } ] }, { "ec_number": "2.7.11.2", "activity": "ATP + L-seryl-[pyruvate dehydrogenase E1 alpha subunit] = ADP + H(+) + O-phospho-L-seryl-[pyruvate dehydrogenase E1 alpha subunit].", "evidence": [ { "id": "Q15118", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15118" } ] }, { "ec_number": "2.7.11.2", "activity": "", "evidence": [ { "id": "Q15118", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15118" } ] } ] }, { "uniprot_ac": "Q16740", "gene_name": "CLPP", "activity": [ { "ec_number": "3.4.21.92", "activity": "Hydrolysis of proteins to small peptides in the presence of ATP and magnesium. alpha-casein is the usual test substrate. In the absence of ATP, only oligopeptides shorter than five residues are hydrolyzed (such as succinyl-Leu-Tyr-|-NHMec, and Leu-Tyr-Leu-|-Tyr-Trp, in which cleavage of the -Tyr-|-Leu- and -Tyr-|-Trp bonds also occurs).", "evidence": [ { "id": "Q16740", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16740" } ] }, { "ec_number": "3.4.21.92", "activity": "", "evidence": [ { "id": "Q16740", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16740" } ] } ] }, { "uniprot_ac": "Q16836", "gene_name": "HADH", "activity": [ { "ec_number": "1.1.1.35", "activity": "a (3S)-3-hydroxyacyl-CoA + NAD(+) = a 3-oxoacyl-CoA + H(+) + NADH.", "evidence": [ { "id": "Q16836", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16836" } ] }, { "ec_number": "1.1.1.35", "activity": "", "evidence": [ { "id": "Q16836", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16836" } ] } ] }, { "uniprot_ac": "Q4G0N4", "gene_name": "NADK2", "activity": [ { "ec_number": "2.7.1.23", "activity": "ATP + NAD(+) = ADP + H(+) + NADP(+).", "evidence": [ { "id": "Q4G0N4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q4G0N4" } ] }, { "ec_number": "2.7.1.23", "activity": "", "evidence": [ { "id": "Q4G0N4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q4G0N4" } ] } ] }, { "uniprot_ac": "Q553V1", "gene_name": "cs", "activity": [ { "ec_number": "2.3.3.16", "activity": "acetyl-CoA + H2O + oxaloacetate = citrate + CoA + H(+).", "evidence": [ { "id": "Q553V1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q553V1" } ] }, { "ec_number": "2.3.3.16", "activity": "", "evidence": [ { "id": "Q553V1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q553V1" } ] } ] }, { "uniprot_ac": "Q86AV6", "gene_name": "gltA", "activity": [ { "ec_number": "2.3.3.16", "activity": "acetyl-CoA + H2O + oxaloacetate = citrate + CoA + H(+).", "evidence": [ { "id": "Q86AV6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86AV6" } ] }, { "ec_number": "2.3.3.16", "activity": "", "evidence": [ { "id": "Q86AV6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86AV6" } ] } ] }, { "uniprot_ac": "Q8MQU6", "gene_name": "cshA", "activity": [ { "ec_number": "2.3.3.16", "activity": "acetyl-CoA + H2O + oxaloacetate = citrate + CoA + H(+).", "evidence": [ { "id": "Q8MQU6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8MQU6" } ] }, { "ec_number": "2.3.3.16", "activity": "", "evidence": [ { "id": "Q8MQU6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8MQU6" } ] } ] }, { "uniprot_ac": "Q8VHF5", "gene_name": "Cs", "activity": [ { "ec_number": "2.3.3.1", "activity": "acetyl-CoA + H2O + oxaloacetate = citrate + CoA + H(+).", "evidence": [ { "id": "Q8VHF5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VHF5" } ] }, { "ec_number": "2.3.3.1", "activity": "", "evidence": [ { "id": "Q8VHF5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VHF5" } ] } ] }, { "uniprot_ac": "Q96I99", "gene_name": "SUCLG2", "activity": [ { "ec_number": "6.2.1.4", "activity": "CoA + GTP + succinate = GDP + phosphate + succinyl-CoA.", "evidence": [ { "id": "Q96I99", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96I99" } ] }, { "ec_number": "6.2.1.4", "activity": "", "evidence": [ { "id": "Q96I99", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96I99" } ] } ] }, { "uniprot_ac": "Q96RR1", "gene_name": "TWNK", "activity": [ { "ec_number": "5.6.2.3", "activity": "Couples ATP hydrolysis with the unwinding of duplex DNA at the replication fork by translocating in the 5'-3' direction. This creates two antiparallel DNA single strands (ssDNA). The leading ssDNA polymer is the template for DNA polymerase III holoenzyme which synthesizes a continuous strand.", "evidence": [ { "id": "Q96RR1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96RR1" } ] }, { "ec_number": "5.6.2.3", "activity": "", "evidence": [ { "id": "Q96RR1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96RR1" } ] } ] }, { "uniprot_ac": "Q99714", "gene_name": "HSD17B10", "activity": [ { "ec_number": "1.1.1.35", "activity": "a (3S)-3-hydroxyacyl-CoA + NAD(+) = a 3-oxoacyl-CoA + H(+) + NADH.", "evidence": [ { "id": "Q99714", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99714" } ] }, { "ec_number": "1.1.1.62", "activity": "17beta-estradiol + NAD(+) = estrone + H(+) + NADH.", "evidence": [ { "id": "Q99714", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99714" } ] }, { "ec_number": "1.1.1.239", "activity": "NAD(+) + testosterone = androst-4-ene-3,17-dione + H(+) + NADH.", "evidence": [ { "id": "Q99714", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99714" } ] }, { "ec_number": "1.1.1.178", "activity": "(2S,3S)-3-hydroxy-2-methylbutanoyl-CoA + NAD(+) = 2-methyl-3-oxobutanoyl-CoA + H(+) + NADH.", "evidence": [ { "id": "Q99714", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99714" } ] }, { "ec_number": "1.1.1.53", "activity": "5alpha-androstane-3alpha,17beta-diol + NAD(+) = 17beta-hydroxy-5alpha-androstan-3-one + H(+) + NADH.", "evidence": [ { "id": "Q99714", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99714" } ] }, { "ec_number": "1.1.1.159", "activity": "cholate + NAD(+) = 3alpha,12alpha-dihydroxy-7-oxo-5beta-cholanate + H(+) + NADH.", "evidence": [ { "id": "Q99714", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99714" } ] }, { "ec_number": "1.1.1.35", "activity": "", "evidence": [ { "id": "Q99714", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99714" } ] } ] }, { "uniprot_ac": "Q99798", "gene_name": "ACO2", "activity": [ { "ec_number": "4.2.1.3", "activity": "citrate = D-threo-isocitrate.", "evidence": [ { "id": "Q99798", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99798" } ] }, { "ec_number": "4.2.1.3", "activity": "", "evidence": [ { "id": "Q99798", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99798" } ] } ] }, { "uniprot_ac": "Q9CZU6", "gene_name": "Cs", "activity": [ { "ec_number": "2.3.3.1", "activity": "acetyl-CoA + H2O + oxaloacetate = citrate + CoA + H(+).", "evidence": [ { "id": "Q9CZU6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9CZU6" } ] }, { "ec_number": "2.3.3.1", "activity": "", "evidence": [ { "id": "Q9CZU6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9CZU6" } ] } ] }, { "uniprot_ac": "Q9NSE4", "gene_name": "IARS2", "activity": [ { "ec_number": "6.1.1.5", "activity": "ATP + L-isoleucine + tRNA(Ile) = AMP + diphosphate + L-isoleucyl-tRNA(Ile).", "evidence": [ { "id": "Q9NSE4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NSE4" } ] }, { "ec_number": "6.1.1.5", "activity": "", "evidence": [ { "id": "Q9NSE4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NSE4" } ] } ] }, { "uniprot_ac": "Q9NWU1", "gene_name": "OXSM", "activity": [ { "ec_number": "2.3.1.41", "activity": "a fatty acyl-[ACP] + H(+) + malonyl-[ACP] = a 3-oxoacyl-[ACP] + CO2 + holo-[ACP].", "evidence": [ { "id": "Q9NWU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NWU1" } ] }, { "ec_number": "2.3.1.41", "activity": "", "evidence": [ { "id": "Q9NWU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NWU1" } ] } ] }, { "uniprot_ac": "Q9UKU7", "gene_name": "ACAD8", "activity": [ { "ec_number": "1.3.8.5", "activity": "2-methylbutanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E)-2-methylbut-2-enoyl-CoA + reduced [electron-transfer flavoprotein].", "evidence": [ { "id": "Q9UKU7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UKU7" } ] }, { "ec_number": "1.3.8.5", "activity": "", "evidence": [ { "id": "Q9UKU7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UKU7" } ] } ] }, { "uniprot_ac": "Q9W401", "gene_name": "kdn", "activity": [ { "ec_number": "2.3.3.16", "activity": "acetyl-CoA + H2O + oxaloacetate = citrate + CoA + H(+).", "evidence": [ { "id": "Q9W401", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9W401" } ] }, { "ec_number": "2.3.3.16", "activity": "", "evidence": [ { "id": "Q9W401", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9W401" } ] } ] } ], "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": [ 5, 13 ], "sequon_annotation_sites": [ { "start_pos": 15, "end_pos": 17 }, { "start_pos": 239, "end_pos": 241 }, { "start_pos": 269, "end_pos": 271 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "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": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "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": 2 }, { "field": "total_sites", "count": 2 } ], "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": 106 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }