{ "uniprot_canonical_ac": "P11498-1", "uniprot_ac": "P11498", "uniprot_id": "PYC_HUMAN", "mass": { "chemical_mass": 129634.0, "monoisotopic_mass": 129634.0 }, "refseq": { "ac": "NP_000911", "name": "pyruvate carboxylase, mitochondrial precursor", "summary": "This gene encodes pyruvate carboxylase, which requires biotin and ATP to catalyse the carboxylation of pyruvate to oxaloacetate. The active enzyme is a homotetramer arranged in a tetrahedron which is located exclusively in the mitochondrial matrix. Pyruvate carboxylase is involved in gluconeogenesis, lipogenesis, insulin secretion and synthesis of the neurotransmitter glutamate. Mutations in this gene have been associated with pyruvate carboxylase deficiency. Alternatively spliced transcript variants with different 5' UTRs, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000911" }, "gene_names": [ { "name": "PC", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P11498", "id": "P11498" }, { "name": "PCB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000911", "id": "NP_000911" }, { "name": "PC", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000911", "id": "NP_000911" } ], "protein_names": [ { "name": "Pyruvate carboxylase, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P11498" }, { "name": "6.4.1.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11498" }, { "name": "PCB", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11498" }, { "name": "Pyruvic carboxylase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11498" }, { "name": "pyruvate carboxylase, mitochondrial precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000911", "id": "NP_000911" }, { "name": "pyruvate carboxylase, mitochondrial; pyruvic carboxylase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000911", "id": "NP_000911" } ], "function": [ { "annotation": "Fibroblast pyruvate carboxylase is required for collagen production in the tumour microenvironment.", "evidence": [ { "database": "RefSeq", "id": "NP_000911", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000911" }, { "database": "PubMed", "id": "34764457", "url": "https://glygen.org/publication/PubMed/34764457" } ] }, { "annotation": "In silico Analysis of Two Novel Variants in the Pyruvate Carboxylase (PC) Gene Associated with the Severe Form of PC Deficiency.", "evidence": [ { "database": "RefSeq", "id": "NP_000911", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000911" }, { "database": "PubMed", "id": "37873728", "url": "https://glygen.org/publication/PubMed/37873728" } ] }, { "annotation": "Leat-associated seizures the possible role of EAAT2, pyruvate carboxylase and glutamine synthetase.", "evidence": [ { "database": "RefSeq", "id": "NP_000911", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000911" }, { "database": "PubMed", "id": "38086219", "url": "https://glygen.org/publication/PubMed/38086219" } ] }, { "annotation": "Protective effects of all-trans retinoic acid against gastric premalignant lesions by repressing exosomal LncHOXA10-pyruvate carboxylase axis.", "evidence": [ { "database": "RefSeq", "id": "NP_000911", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000911" }, { "database": "PubMed", "id": "34632533", "url": "https://glygen.org/publication/PubMed/34632533" } ] }, { "annotation": "Pyruvate carboxylase catalyzes a 2-step reaction, involving the ATP-dependent carboxylation of the covalently attached biotin in the first step and the transfer of the carboxyl group to pyruvate in the second. Catalyzes in a tissue specific manner, the initial reactions of glucose (liver, kidney) and lipid (adipose tissue, liver, brain) synthesis from pyruvate.", "evidence": [ { "database": "UniProtKB", "id": "P11498", "url": "https://www.uniprot.org/uniprot/P11498#function" }, { "database": "PubMed", "id": "9585002", "url": "https://glygen.org/publication/PubMed/9585002" } ] }, { "annotation": "The ubiquitous expression of pyruvate carboxylase among human prostate tumors.", "evidence": [ { "database": "RefSeq", "id": "NP_000911", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000911" }, { "database": "PubMed", "id": "35907054", "url": "https://glygen.org/publication/PubMed/35907054" } ] }, { "annotation": "This gene encodes pyruvate carboxylase, which requires biotin and ATP to catalyse the carboxylation of pyruvate to oxaloacetate. The active enzyme is a homotetramer arranged in a tetrahedron which is located exclusively in the mitochondrial matrix. Pyruvate carboxylase is involved in gluconeogenesis, lipogenesis, insulin secretion and synthesis of the neurotransmitter glutamate. Mutations in this gene have been associated with pyruvate carboxylase deficiency. Alternatively spliced transcript variants with different 5' UTRs, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000911", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000911" } ] } ], "disease": [ { "disease_id": "DOID:3651", "recommended_name": { "id": "DOID:3651", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3651", "name": "pyruvate carboxylase deficiency disease", "description": "A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis." }, "synonyms": [ { "id": "DOID:3651", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3651", "name": "deficiency of pyruvic carboxylase", "description": "" }, { "id": "MONDO:0009949", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009949", "name": "pyruvate carboxylase deficiency disease", "description": "Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients." }, { "id": "MONDO:0009949", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009949", "name": "Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency", "description": "" }, { "id": "MONDO:0009949", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009949", "name": "Leigh syndrome due to PC deficiency", "description": "" }, { "id": "MONDO:0009949", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009949", "name": "Leigh syndrome due to pyruvate carboxylase deficiency", "description": "" }, { "id": "MONDO:0009949", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009949", "name": "ataxia with lactic acidosis type 2", "description": "" }, { "id": "MONDO:0009949", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009949", "name": "ataxia with lactic acidosis type II", "description": "" }, { "id": "MONDO:0009949", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009949", "name": "deficiency of pyruvic carboxylase", "description": "" }, { "id": "MONDO:0009949", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009949", "name": "pyruvate carboxylase deficiency disease", "description": "" }, { "id": "MONDO:0009949", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009949", "name": "Pc deficiency", "description": "" }, { "id": "MONDO:0009949", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009949", "name": "ataxia with lactic acidosis 2", "description": "" }, { "id": "MONDO:0009949", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009949", "name": "pyruvate carboxylase deficiency", "description": "" }, { "id": "MIM:266150", "resource": "MIM", "url": "https://www.omim.org/entry/266150", "name": "Pyruvate carboxylase deficiency", "description": "Pyruvate carboxylase deficiency" } ], "evidence": [ { "id": "266150", "database": "MIM", "url": "https://www.omim.org/entry/266150" } ] } ], "snv": [ { "evidence": [ { "id": "rs747786536", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747786536" }, { "id": "rs747786536", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747786536" }, { "id": "rs747786536", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747786536#frequency_tab" }, { "id": "rs747786536", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747786536" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1022, "end_pos": 1022, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DFT->NFT).", "chr_id": "11", "chr_pos": "66849694", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1022", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1195616159", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1195616159" }, { "id": "rs1195616159", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1195616159#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 232, "end_pos": 232, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGA->NGS).", "chr_id": "11", "chr_pos": "66870832", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A232", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1195616159", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1195616159" }, { "id": "rs1195616159", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1195616159#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 232, "end_pos": 232, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGA->NGT).", "chr_id": "11", "chr_pos": "66870832", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A232", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs796052028", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs796052028" }, { "id": "rs796052028", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs796052028" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 497, "end_pos": 497, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRA->NRS).", "chr_id": "11", "chr_pos": "66853263", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A497", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs796052028", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs796052028" }, { "id": "rs796052028", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs796052028" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 497, "end_pos": 497, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRA->NRT).", "chr_id": "11", "chr_pos": "66853263", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A497", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765486889", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765486889" }, { "id": "rs765486889", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765486889" }, { "id": "rs765486889", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765486889" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 695, "end_pos": 695, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->G).", "chr_id": "11", "chr_pos": "66851180", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S695", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1453225876", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1453225876" }, { "id": "rs1453225876", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1453225876" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 774, "end_pos": 774, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DTS->NTS).", "chr_id": "11", "chr_pos": "66850827", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D774", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1200819608", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1200819608" }, { "id": "rs1200819608", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1200819608" }, { "id": "rs1200819608", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1200819608" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 849, "end_pos": 849, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DCT->NCT).", "chr_id": "11", "chr_pos": "66850393", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D849", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 1077, "end_pos": 1077, "sequence_org": "F", "sequence_mut": "A", "comment": "Loss of tetramerization and enzyme activity, resulting in an inactive homodimer.", "evidence": [ { "database": "UniProtKB", "id": "P11498", "url": "https://www.uniprot.org/uniprot/P11498" }, { "database": "PubMed", "id": "18297087", "url": "https://glygen.org/publication/PubMed/18297087" } ] }, { "start_pos": 1077, "end_pos": 1077, "sequence_org": "F", "sequence_mut": "E", "comment": "Loss of tetramerization and enzyme activity, resulting in an inactive homodimer.", "evidence": [ { "database": "UniProtKB", "id": "P11498", "url": "https://www.uniprot.org/uniprot/P11498" }, { "database": "PubMed", "id": "18297087", "url": "https://glygen.org/publication/PubMed/18297087" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "90.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173599", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173599" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "60.33", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000173599", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173599" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "77.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000173599", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173599" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "63.77", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000173599", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173599" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "85.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173599", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173599" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "77.8", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000173599", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173599" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "70.35", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000173599", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173599" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "63.77", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000173599", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173599" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "79.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173599", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173599" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "68.26", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000173599", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173599" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "97.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173599", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173599" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "91.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173599", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173599" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "88.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173599", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173599" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P11498", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11498" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P11498", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11498" } ], "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", 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"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 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"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 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}, { "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": 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P11498", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11498" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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}, { "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": "P11498", "url": "https://www.uniprot.org/uniprot/P11498" } ], "common_name": "Human" } ], "gene": [ { "name": "PC", "url": "https://www.uniprot.org/uniprot/P11498", "locus": { "chromosome": "11", "start_pos": 66848417, "end_pos": 66958386, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000173599", "url": "https://www.ensembl.org/id/ENSG00000173599" } ] } } ], "crossref": [ { "id": "ENSG00000173599", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173599", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "6.4.1.1", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=6.4.1.1&UniProtAcc=P11498", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd06850", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd06850", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd07937", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd07937", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "PC", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=PC", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "5091", "url": "https://www.ncbi.nlm.nih.gov/gene/5091", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "8636", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=8636", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P11498", "url": "https://www.ebi.ac.uk/intact/interactors/id:P11498*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000089", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000089", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR000891", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000891", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001882", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001882", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003379", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003379", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR005479", "url": "https://www.ebi.ac.uk/interpro/entry/IPR005479", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR005481", "url": "https://www.ebi.ac.uk/interpro/entry/IPR005481", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR005482", "url": "https://www.ebi.ac.uk/interpro/entry/IPR005482", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR005930", "url": "https://www.ebi.ac.uk/interpro/entry/IPR005930", "database": "InterPro", "categories": [ "Protein 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"InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:5091", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5091", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "266150", "url": "http://www.omim.org/entry/266150", "database": "MIM", "categories": [ "Other" ] }, { "id": "608786", "url": "http://www.omim.org/entry/608786", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P11498", "url": "https://www.nextprot.org/entry/NX_P11498", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P11498", "url": "https://oglcnac.org/atlas/detail/P11498", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "P11498", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11498", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "KGDAWSI", "url": "https://omabrowser.org/oma/group/KGDAWSI/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1129179at2759", "url": "http://www.orthodb.org/?query=1129179at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR43778", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43778", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR43778:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43778:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "3BG3", "url": "https://www.rcsb.org/structure/3BG3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3BG9", "url": "https://www.rcsb.org/structure/3BG9", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7WTA", "url": "https://www.rcsb.org/structure/7WTA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7WTB", "url": "https://www.rcsb.org/structure/7WTB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7WTC", "url": "https://www.rcsb.org/structure/7WTC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7WTD", "url": "https://www.rcsb.org/structure/7WTD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7WTE", "url": "https://www.rcsb.org/structure/7WTE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00289", "url": "http://pfam.xfam.org/family/PF00289", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00364", "url": "http://pfam.xfam.org/family/PF00364", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00682", "url": "http://pfam.xfam.org/family/PF00682", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02436", "url": "http://pfam.xfam.org/family/PF02436", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02785", "url": "http://pfam.xfam.org/family/PF02785", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02786", "url": "http://pfam.xfam.org/family/PF02786", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P11498", "url": "https://pharos.nih.gov/targets/P11498", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P11498", "url": "http://purl.obolibrary.org/obo/PR_P11498", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-196780", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196780", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-3371599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371599", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000911", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000911", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "20844", "url": "https://www.rhea-db.org/rhea/20844", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A494BZT5", "url": "https://www.uniprot.org/uniprot/A0A494BZT5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A494BZT5-1", "url": "https://www.uniprot.org/uniprot/A0A494BZT5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A494C016", "url": "https://www.uniprot.org/uniprot/A0A494C016", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A494C016-1", "url": "https://www.uniprot.org/uniprot/A0A494C016-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A494C0T2", "url": "https://www.uniprot.org/uniprot/A0A494C0T2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A494C0T2-1", "url": "https://www.uniprot.org/uniprot/A0A494C0T2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A494C101", "url": "https://www.uniprot.org/uniprot/A0A494C101", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A494C101-1", "url": "https://www.uniprot.org/uniprot/A0A494C101-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PRE7", "url": "https://www.uniprot.org/uniprot/E9PRE7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PRE7-1", "url": "https://www.uniprot.org/uniprot/E9PRE7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11498", "url": "https://www.uniprot.org/uniprot/P11498", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11498-1", "url": "https://www.uniprot.org/uniprot/P11498-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11498-2", "url": "https://www.uniprot.org/uniprot/P11498-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLKFRTVHGGLRLLGIRRTSTAPAASPNVRRLEYKPIKKVMVANRGEIAIRVFRACTELGIRTVAIYSEQDTGQMHRQKADEAYLIGRGLAPVQAYLHIPDIIKVAKENNVDAVHPGYGFLSERADFAQACQDAGVRFIGPSPEVVRKMGDKVEARAIAIAAGVPVVPGTDAPITSLHEAHEFSNTYGFPIIFKAAYGGGGRGMRVVHSYEELEENYTRAYSEALAAFGNGALFVEKFIEKPRHIEVQILGDQYGNILHLYERDCSIQRRHQKVVEIAPAAHLDPQLRTRLTSDSVKLAKQVGYENAGTVEFLVDRHGKHYFIEVNSRLQVEHTVTEEITDVDLVHAQIHVAEGRSLPDLGLRQENIRINGCAIQCRVTTEDPARSFQPDTGRIEVFRSGEGMGIRLDNASAFQGAVISPHYDSLLVKVIAHGKDHPTAATKMSRALAEFRVRGVKTNIAFLQNVLNNQQFLAGTVDTQFIDENPELFQLRPAQNRAQKLLHYLGHVMVNGPTTPIPVKASPSPTDPVVPAVPIGPPPAGFRDILLREGPEGFARAVRNHPGLLLMDTTFRDAHQSLLATRVRTHDLKKIAPYVAHNFSKLFSMENWGGATFDVAMRFLYECPWRRLQELRELIPNIPFQMLLRGANAVGYTNYPDNVVFKFCEVAKENGMDVFRVFDSLNYLPNMLLGMEAAGSAGGVVEAAISYTGDVADPSRTKYSLQYYMGLAEELVRAGTHILCIKDMAGLLKPTACTMLVSSLRDRFPDLPLHIHTHDTSGAGVAAMLACAQAGADVVDVAADSMSGMTSQPSMGALVACTRGTPLDTEVPMERVFDYSEYWEGARGLYAAFDCTATMKSGNSDVYENEIPGGQYTNLHFQAHSMGLGSKFKEVKKAYVEANQMLGDLIKVTPSSKIVGDLAQFMVQNGLSRAEAEAQAEELSFPRSVVEFLQGYIGVPHGGFPEPFRSKVLKDLPRVEGRPGASLPPLDLQALEKELVDRHGEEVTPEDVLSAAMYPDVFAHFKDFTATFGPLDSLNTRLFLQGPKIAEEFEVELERGKTLHIKALAVSDLNRAGQRQVFFELNGQLRSILVKDTQAMKEMHFHPKALKDVKGQIGAPMPGKVIDIKVVAGAKVAKGQPLCVLSAMKMETVVTSPMEGTVRKVHVTKDMTLEGDDLILEIE", "length": 1178, "header": "sp|P11498-1|PYC_HUMAN Isoform 1 of Pyruvate carboxylase, mitochondrial OS=Homo sapiens OX=9606 GN=PC PE=1 SV=2 CANONICAL=P11498-1" }, "isoforms": [ { "isoform_ac": "A0A494BZT5-1", "url": "", "sequence": { "sequence": "MLKFRTVHGGLRLLGIRRTSTAPAASPNVRRLEYKPIKKVMVANRGEIAIRVFRACTELGIRTVAIYS", "length": 68, "header": "tr|A0A494BZT5-1|A0A494BZT5_HUMAN Computationally mapped isoform of Pyruvate carboxylase OS=Homo sapiens OX=9606 GN=PC PE=1 SV=1 CANONICAL=P11498-1" }, "locus": { "chromosome": "11", "start_pos": 66872159, "end_pos": 66871804, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000531614.6", "url": "https://www.ensembl.org/id/ENST00000531614.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000498218.1", "url": "https://www.ensembl.org/id/ENSP00000498218.1" } ] } }, { "isoform_ac": "A0A494C016-1", "url": "", "sequence": { "sequence": "MLKFRTVHGGLRLLGIRRTSTAPAASPNVRRLEYKPIKKVMVANRGEIAIRVFRACTELGIRTVAIYSEQDTGQMHRQKADEAYLIGRGLAPVQAYLHIPDIIKVAKENNVDAVHPGYGFLSERADFAQACQDAGVRFIGPSPEVVRKMGDKVEARAIAIAAGVPVVPGTDAPITSLHEAHEFSNTYGFPIIFKAAYGGGGRGMRVVHSYEELEENYTRAYSEALAAFGNGALFVEKFIEKPRHIEVQILGDQYGNILHLYERDCSIQRRHQKVVEIAPAAHLDPQLRTRLTSDSVKLAKQVGYENAGTVEFLVDRHGKHYFIEVNSRLQVEHTVTEEITDVDLVHAQIHVAEGRSLPDLGLRQENIRINGCAIQCRVTTEDPARSFQPDTGRIEVFRSGEGMGIRLDNASAFQGAVISPHYDSLLVKVIAHGKDHPTAATKMSRALAEFRVRGVKTNIAFLQNVLNNQQFLAGTVDTQFIDENPELFQLRPAQNRAQKLLHYLGHVMVNGPTTPIPVKASPSPTDPVVPAVPIGPPPAGFRDILLREGPEGFARAVRNHPGLLLMDTTFRDAHQSLLATRVRTHDLKKIAPYVAHNFSKLFSMENWGDAAAGGQCCGLHQLPRQRGLQVL", "length": 631, "header": "tr|A0A494C016-1|A0A494C016_HUMAN Computationally mapped isoform of Pyruvate carboxylase OS=Homo sapiens OX=9606 GN=PC PE=1 SV=1 CANONICAL=P11498-1" }, "locus": { "chromosome": "11", "start_pos": 66872159, "end_pos": 66851275, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000528224.2", "url": "https://www.ensembl.org/id/ENST00000528224.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000498317.1", "url": "https://www.ensembl.org/id/ENSP00000498317.1" } ] } }, { "isoform_ac": "A0A494C0T2-1", "url": "", "sequence": { "sequence": "MLKFRTVHGGLRLLGIRRTSTAPAASPNVRRLEYKPIKKVMVANRGEIAIRVFRACTELGIRTVAIYSEQDTGQMHRQKADEAYLIGRGLAPVQAYLHIPDIIKVAKENNVDAVHPGYGFLSERADFAQACQDAGVRFIGPSPEVVRKMGDKVEARAIAIAAGVPVVPGTDAPITSLHEAHEFSNTYGFPIIFKAAYGGGGRGMRVVHSYEELEENYTRAYSEALAAFGNGALFVEKFIEKPRHIEVQILGDQYGNILHLYERDCSIQRRHQKVVEIAPAAHLDPQLRTRLTSDSVKLAKQVGYENAGTVEFLVDRHGKHYFIEVNSRLQVEHTVTEEITDVDLVHAQIHVAEGRSLPDLGLRQENIRINGCAIQCRVTTEDPARSFQPDTGRIEVFRSGEGMGIRLDNASAFQGAVISPHYDSLLVKVIAHGKDHPTAATKMSRALAEFRVRGVKPFLLCLPCLCCMVTPSHPPLSCRPTSPSCRMCSTTSSSWQALWTPSSSTRTQSCSSCGLHRTGPKSCCTTSAMSW", "length": 531, "header": "tr|A0A494C0T2-1|A0A494C0T2_HUMAN Computationally mapped isoform of Pyruvate carboxylase OS=Homo sapiens OX=9606 GN=PC PE=1 SV=1 CANONICAL=P11498-1" }, "locus": { "chromosome": "11", "start_pos": 66872159, "end_pos": 66852825, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000651469.1", "url": "https://www.ensembl.org/id/ENST00000651469.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498712.1", "url": "https://www.ensembl.org/id/ENSP00000498712.1" } ] } }, { "isoform_ac": "A0A494C101-1", "url": "", "sequence": { "sequence": "MLKFRTVHGGLRLLGIRRTSTAPAASPNVRRLEYKPIKKVMVANRGEIAIRVFRACTELGIRTVAIYSEQDTGQMHRQKADEAYLIGRGLAPVQAYLHIPDIIKVAKENNVDAVHPGYGFLSERADFAQACQDAGVRFIGPSPEVVRKMGDKVEARAIAIAAGVPVVPGTDAPITSLHEAHEFSNTYGFPIIFKAAYGGGGRGMRVVHSYEELEENYTRAYSEALAAFGNGALFVEKFIEKPRHIEVQILGDQYGNILHLYERDCSIQRRHQKVVEIAPAAHLDPQLRTRLTSDSVKLAKQVGYENAGTVEFLVDRHGKHYFIEVNSRLQVEHTVTEEITDVDLVHAQIHVAEGRSLPDLGLRQENIRINGCAIQCRVTTEDPARSFQPDTGRIEVFRSGEGMGIRLDNASAFQGAVISPHYDSLLVKVIAHGKDHPTAATKMSRALAEFRVRGVKTNIAFLQNVLNNQQFLAGTVDTQFIDE", "length": 483, "header": "tr|A0A494C101-1|A0A494C101_HUMAN Computationally mapped isoform of Pyruvate carboxylase OS=Homo sapiens OX=9606 GN=PC PE=1 SV=1 CANONICAL=P11498-1" }, "locus": { "chromosome": "11", "start_pos": 66872159, "end_pos": 66853303, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000528403.6", "url": "https://www.ensembl.org/id/ENST00000528403.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000498816.1", "url": "https://www.ensembl.org/id/ENSP00000498816.1" } ] } }, { "isoform_ac": "E9PRE7-1", "url": "", "sequence": { "sequence": "MVANRGEIAIRVFRACTELGIRTVAIYSEQDTGQMHRQKADEAYLIGRGLAPVQAYLHIPDIIKVAKENNVDAVHPGYGFLSERADFAQACQDAGVRFIGPSPEVVRKMGDKVEARAIAIAAGVPVVPGTDAPITSLHEAHEFSNTYGFPIIFKAAYGGGGRGMRVVHSYEELEENYTRAYSEALAAFGNGALFVEKFIEKPRHIEVQILGDQYGNILHLYERDCSIQRRHQKVVEIAPAAHLDPQLRTRLTSDSVKLAKQVGYENAGTVEFLVDRHGKHYFIEVNSRLQVEHTVTEEITDVDLVHAQIHVAEGRSLPDLGLRQENIRINGCAIQCRVTTEDPARSFQPDTGRIEVFRSGEGMGIRLDNASAFQGAVISPHYDSLLVKVIAHGKDHPTAATKMSRALAEFRVRGVKVRRHQAQPLAAALGRPCGQEARRPQAAVTAPTGPGSPTLVRVPPAARVLSSRLGGPSQTTPETSTEVSPTILL", "length": 489, "header": "tr|E9PRE7-1|E9PRE7_HUMAN Computationally mapped isoform of Pyruvate carboxylase OS=Homo sapiens OX=9606 GN=PC PE=1 SV=1 CANONICAL=P11498-1" }, "locus": { "chromosome": "11", "start_pos": 66872039, "end_pos": 66860451, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000628663.1", "url": "https://www.ensembl.org/id/ENST00000628663.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000486373.1", "url": "https://www.ensembl.org/id/ENSP00000486373.1" } ] } }, { "isoform_ac": "P11498-1", "url": "", "sequence": { "sequence": "MLKFRTVHGGLRLLGIRRTSTAPAASPNVRRLEYKPIKKVMVANRGEIAIRVFRACTELGIRTVAIYSEQDTGQMHRQKADEAYLIGRGLAPVQAYLHIPDIIKVAKENNVDAVHPGYGFLSERADFAQACQDAGVRFIGPSPEVVRKMGDKVEARAIAIAAGVPVVPGTDAPITSLHEAHEFSNTYGFPIIFKAAYGGGGRGMRVVHSYEELEENYTRAYSEALAAFGNGALFVEKFIEKPRHIEVQILGDQYGNILHLYERDCSIQRRHQKVVEIAPAAHLDPQLRTRLTSDSVKLAKQVGYENAGTVEFLVDRHGKHYFIEVNSRLQVEHTVTEEITDVDLVHAQIHVAEGRSLPDLGLRQENIRINGCAIQCRVTTEDPARSFQPDTGRIEVFRSGEGMGIRLDNASAFQGAVISPHYDSLLVKVIAHGKDHPTAATKMSRALAEFRVRGVKTNIAFLQNVLNNQQFLAGTVDTQFIDENPELFQLRPAQNRAQKLLHYLGHVMVNGPTTPIPVKASPSPTDPVVPAVPIGPPPAGFRDILLREGPEGFARAVRNHPGLLLMDTTFRDAHQSLLATRVRTHDLKKIAPYVAHNFSKLFSMENWGGATFDVAMRFLYECPWRRLQELRELIPNIPFQMLLRGANAVGYTNYPDNVVFKFCEVAKENGMDVFRVFDSLNYLPNMLLGMEAAGSAGGVVEAAISYTGDVADPSRTKYSLQYYMGLAEELVRAGTHILCIKDMAGLLKPTACTMLVSSLRDRFPDLPLHIHTHDTSGAGVAAMLACAQAGADVVDVAADSMSGMTSQPSMGALVACTRGTPLDTEVPMERVFDYSEYWEGARGLYAAFDCTATMKSGNSDVYENEIPGGQYTNLHFQAHSMGLGSKFKEVKKAYVEANQMLGDLIKVTPSSKIVGDLAQFMVQNGLSRAEAEAQAEELSFPRSVVEFLQGYIGVPHGGFPEPFRSKVLKDLPRVEGRPGASLPPLDLQALEKELVDRHGEEVTPEDVLSAAMYPDVFAHFKDFTATFGPLDSLNTRLFLQGPKIAEEFEVELERGKTLHIKALAVSDLNRAGQRQVFFELNGQLRSILVKDTQAMKEMHFHPKALKDVKGQIGAPMPGKVIDIKVVAGAKVAKGQPLCVLSAMKMETVVTSPMEGTVRKVHVTKDMTLEGDDLILEIE", "length": 1178, "header": "sp|P11498-1|PYC_HUMAN Isoform 1 of Pyruvate carboxylase, mitochondrial OS=Homo sapiens OX=9606 GN=PC PE=1 SV=2 CANONICAL=P11498-1" }, "locus": { "chromosome": "11", "start_pos": 66872159, "end_pos": 66848902, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000393955.6", "url": "https://www.ensembl.org/id/ENST00000393955.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000377527.2", "url": "https://www.ensembl.org/id/ENSP00000377527.2" } ] } }, { "isoform_ac": "P11498-2", "url": "", "sequence": { "sequence": "MLKFRTVHGGLRLLGIRRTSTAPAASPNVRRLEYKPIKKVMVANRGEIAIRVFRACTELGIRTVAIYSEQDTGQMHRQKADEAYLIGRGLAPVQAYLHIPDIIKVAKENNVDAVHPGYGFLSERADFAQACQDAGVRFIGPSPEVVRKMGDKVEARAIAIAAGVPVVPGTDAPITSLHEAHEFSNTYGFPIIFKAAYGGGGRGMRVVHSYEELEENYTRAYSEALAAFGNGALFVEKFIEKPRHIEVQILGDQYGNILHLYERDCSIQRRHQKVVEIAPAAHLDPQLRTRLTSDSVKLAKQVGYENAGTVEFLVDRHGKHYFIEVNSRLQVEHTVTEEITDVDLVHAQIHVAEGRSLPDLGLRQENIRINGCAIQCRVTTEDPARSFQPDTGRIEVFRSGEGMGIRLDNASAFQGAVISPHYDSLLVKVIAHGKDHPTAATKMSRALAEFRVRGVKVRRHQAQPLAAALGRPCGQEARRPQAAVTAPTGPGSPTLVRVPPAARVLSSRLGGPSQTTPETSTEVSPTILL", "length": 529, "header": "sp|P11498-2|PYC_HUMAN Isoform 2 of Pyruvate carboxylase, mitochondrial OS=Homo sapiens OX=9606 GN=PC PE=1 SV=2 CANONICAL=P11498-1" }, "locus": { "chromosome": "11", "start_pos": 66872159, "end_pos": 66860451, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000524491.6", "url": "https://www.ensembl.org/id/ENST00000524491.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000434192.2", "url": "https://www.ensembl.org/id/ENSP00000434192.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 695, "start_aa": "Ser", "end_pos": 695, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser695", "evidence": [ { "id": "P11498", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P11498" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P11498", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11498" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" } ] } ], "phosphorylation": [ { "start_pos": 1003, "end_pos": 1003, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P11498", "url": "https://www.uniprot.org/uniprot/P11498" } ], "site_lbl": "Thr1003" }, { "start_pos": 289, "end_pos": 289, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11498", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11498" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr289" }, { "start_pos": 293, "end_pos": 293, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11498", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11498" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser293" }, { "start_pos": 304, "end_pos": 304, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11498", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11498" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Tyr304" }, { "start_pos": 309, "end_pos": 309, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11498", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11498" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr309" }, { "start_pos": 894, "end_pos": 894, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11498", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11498" }, { "database": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" } ], "site_lbl": "Tyr894" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Human biotinidase isn't just for recycling biotin.", "journal": "The Journal of nutrition", "date": "1999", "authors": "Hymes J, Wolf B", "evidence": [ { "database": "Reactome", "id": "R-HSA-196780", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196780" } ], "reference": [ { "type": "PubMed", "id": "10064314", "url": "https://glygen.org/publication/PubMed/10064314" } ] }, { "title": "Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency.", "journal": "Human genetics", "date": "1999", "authors": "Aoki Y, Li X, Sakamoto O, Hiratsuka M, Akaishi H, Xu L, Briones P, Suormala T, Baumgartner ER, Suzuki Y, Narisawa K", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371599" } ], "reference": [ { "type": "PubMed", "id": "10190325", "url": "https://glygen.org/publication/PubMed/10190325" } ] }, { "title": "Structure, function and regulation of pyruvate carboxylase.", "journal": "The Biochemical journal", "date": "1999", "authors": "Jitrapakdee S, Wallace JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "10229653", "url": "https://glygen.org/publication/PubMed/10229653" } ] }, { "title": "Human placental Na+-dependent multivitamin transporter. Cloning, functional expression, gene structure, and chromosomal localization.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Wang H, Huang W, Fei YJ, Xia H, Yang-Feng TL, Leibach FH, Devoe LD, Ganapathy V, Prasad PD", "evidence": [ { "database": "Reactome", "id": "R-HSA-196780", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196780" } ], "reference": [ { "type": "PubMed", "id": "10329687", "url": "https://glygen.org/publication/PubMed/10329687" } ] }, { "title": "Molecular and functional characterization of the intestinal Na+-dependent multivitamin transporter.", "journal": "Archives of biochemistry and biophysics", "date": "1999", "authors": "Prasad PD, Wang H, Huang W, Fei YJ, Leibach FH, Devoe LD, Ganapathy V", "evidence": [ { "database": "Reactome", "id": "R-HSA-196780", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196780" } ], "reference": [ { "type": "PubMed", "id": "10334869", "url": "https://glygen.org/publication/PubMed/10334869" } ] }, { "title": "The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.", "journal": "Nature genetics", "date": "1999", "authors": "Kobayashi K, Sinasac DS, Iijima M, Boright AP, Begum L, Lee JR, Yasuda T, Ikeda S, Hirano R, Terazono H, Crackower MA, Kondo I, Tsui LC, Scherer SW, Saheki T", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "10369257", "url": "https://glygen.org/publication/PubMed/10369257" } ] }, { "title": "Organization and sequence of the gene for the human mitochondrial dicarboxylate carrier: evolution of the carrier family.", "journal": "The Biochemical journal", "date": "1999", "authors": "Fiermonte G, Dolce V, Arrigoni R, Runswick MJ, Walker JE, Palmieri F", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "10585886", "url": "https://glygen.org/publication/PubMed/10585886" } ] }, { "title": "Characterization of a second member of the subfamily of calcium-binding mitochondrial carriers expressed in human non-excitable tissues.", "journal": "The Biochemical journal", "date": "2000", "authors": "Del Arco A, Agudo M, Satrustegui J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "10642534", "url": "https://glygen.org/publication/PubMed/10642534" } ] }, { "title": "The subcellular localization of acetyl-CoA carboxylase 2.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Abu-Elheiga L, Brinkley WR, Zhong L, Chirala SS, Woldegiorgis G, Wakil SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-196780", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196780" } ], "reference": [ { "type": "PubMed", "id": "10677481", "url": "https://glygen.org/publication/PubMed/10677481" } ] }, { "title": "Human glyceraldehyde 3-phosphate dehydrogenase-2 gene is expressed specifically in spermatogenic cells.", "journal": "Journal of andrology", "date": "2000", "authors": "Welch JE, Brown PL, O'Brien DA, Magyar PL, Bunch DO, Mori C, Eddy EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "10714828", "url": "https://glygen.org/publication/PubMed/10714828" } ] }, { "title": "Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations.", "journal": "Journal of human genetics", "date": "2000", "authors": "Yang X, Aoki Y, Li X, Sakamoto O, Hiratsuka M, Gibson KM, Kure S, Narisawa K, Matsubara Y, Suzuki Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371599" } ], "reference": [ { "type": "PubMed", "id": "11185745", "url": "https://glygen.org/publication/PubMed/11185745" } ] }, { "title": "Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis.", "journal": "Annals of neurology", "date": "2001", "authors": "Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S, Keller A, Ciscato P, Galbiati S, Chiveri L, Torrente Y, Scarlato G, Bresolin N", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "11506403", "url": "https://glygen.org/publication/PubMed/11506403" } ] }, { "title": "Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria.", "journal": "The EMBO journal", "date": "2001", "authors": "Palmieri L, Pardo B, Lasorsa FM, del Arco A, Kobayashi K, Iijima M, Runswick MJ, Walker JE, Saheki T, Satrustegui J, Palmieri F", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "11566871", "url": "https://glygen.org/publication/PubMed/11566871" } ] }, { "title": "Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.", "journal": "Human genetics", "date": "2001", "authors": "Yang X, Aoki Y, Li X, Sakamoto O, Hiratsuka M, Kure S, Taheri S, Christensen E, Inui K, Kubota M, Ohira M, Ohki M, Kudoh J, Kawasaki K, Shibuya K, Shintani A, Asakawa S, Minoshima S, Shimizu N, Narisawa K, Matsubara Y, Suzuki Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371599" } ], "reference": [ { "type": "PubMed", "id": "11735028", "url": "https://glygen.org/publication/PubMed/11735028" } ] }, { "title": "Crystal structure of human cytosolic phosphoenolpyruvate carboxykinase reveals a new GTP-binding site.", "journal": "Journal of molecular biology", "date": "2002", "authors": "Dunten P, Belunis C, Crowther R, Hollfelder K, Kammlott U, Levin W, Michel H, Ramsey GB, Swain A, Weber D, Wertheimer SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "11851336", "url": "https://glygen.org/publication/PubMed/11851336" } ] }, { "title": "Transport of phosphoenolpyruvate by the tricarboxylate transporting system in mammalian mitochondria.", "journal": "FEBS letters", "date": "1971", "authors": "Robinson BH", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "11945784", "url": "https://glygen.org/publication/PubMed/11945784" } ] }, { "title": "Effects of synthetic analogues of phosphoenolpyruvate on muscle and liver pyruvate kinase, muscle enolase, liver phosphoenolpyruvate carboxykinase and on the intra-/extra-mitochondrial tricarboxylic acid carrier transport system.", "journal": "FEBS letters", "date": "1971", "authors": "Soling HD, Walter U, Sauer H, Kleineke J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "11946196", "url": "https://glygen.org/publication/PubMed/11946196" } ] }, { "title": "The catalytic center of glucose-6-phosphatase. HIS176 is the nucleophile forming the phosphohistidine-enzyme intermediate during catalysis.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Ghosh A, Shieh JJ, Pan CJ, Sun MS, Chou JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "12093795", "url": "https://glygen.org/publication/PubMed/12093795" } ] }, { "title": "Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.", "journal": "American journal of medical genetics", "date": "2002", "authors": "Morrone A, Malvagia S, Donati MA, Funghini S, Ciani F, Pela I, Boneh A, Peters H, Pasquini E, Zammarchi E", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371599" } ], "reference": [ { "type": "PubMed", "id": "12124727", "url": "https://glygen.org/publication/PubMed/12124727" } ] }, { "title": "Expression and characterization of a human pyruvate carboxylase variant by retroviral gene transfer.", "journal": "The Biochemical journal", "date": "2003", "authors": "Carbone MA, Robinson BH", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "12437512", "url": "https://glygen.org/publication/PubMed/12437512" } ] }, { "title": "Relationship of phosphoenolpyruvate transport, acyl coenzyme A inhibition of adenine nucleotide translocase and calcium ion efflux in guinea pig heart mitochondria.", "journal": "Archives of biochemistry and biophysics", "date": "1976", "authors": "Sul HS, Shrago E, Shug AL", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "1252077", "url": "https://glygen.org/publication/PubMed/1252077" } ] }, { "title": "Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency.", "journal": "Metabolic brain disease", "date": "2002", "authors": "Saheki T, Kobayashi K, Iijima M, Nishi I, Yasuda T, Yamaguchi N, Gao HZ, Jalil MA, Begum L, Li MX", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "12602510", "url": "https://glygen.org/publication/PubMed/12602510" } ] }, { "title": "Biotin uptake by human intestinal and liver epithelial cells: role of the SMVT system.", "journal": "American journal of physiology. 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Commun.", "date": "1994", "authors": "MacKay N, Rigat B, Douglas C, Chen HS, Robinson BH", "evidence": [ { "database": "UniProtKB", "id": "P11498", "url": "https://www.uniprot.org/uniprot/P11498" } ], "reference": [ { "type": "PubMed", "id": "8048912", "url": "https://glygen.org/publication/PubMed/8048912" } ] }, { "title": "Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.", "journal": "Science (New York, N.Y.)", "date": "1993", "authors": "Lei KJ, Shelly LL, Pan CJ, Sidbury JB, Chou JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "8211187", "url": "https://glygen.org/publication/PubMed/8211187" } ] }, { "title": "The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency.", "journal": "American journal of human genetics", "date": "1993", "authors": "Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "8447317", "url": "https://glygen.org/publication/PubMed/8447317" } ] }, { "title": "Molecular analysis of a series of alleles in humans with reduced activity at the triosephosphate isomerase locus.", "journal": "American journal of human genetics", "date": "1996", "authors": "Watanabe M, Zingg BC, Mohrenweiser HW", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "8571957", "url": "https://glygen.org/publication/PubMed/8571957" } ] }, { "title": "The formation of a disulfide cross-link between the two subunits demonstrates the dimeric structure of the mitochondrial oxoglutarate carrier.", "journal": "Biochimica et biophysica acta", "date": "1996", "authors": "Bisaccia F, Zara V, Capobianco L, Iacobazzi V, Mazzeo M, Palmieri F", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "8597574", "url": "https://glygen.org/publication/PubMed/8597574" } ] }, { "title": "Molecular cloning, sequencing and expression of the cDNA of the mitochondrial form of phosphoenolpyruvate carboxykinase from human liver.", "journal": "The Biochemical journal", "date": "1996", "authors": "Modaressi S, Christ B, Bratke J, Zahn S, Heise T, Jungermann K", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "8645161", "url": "https://glygen.org/publication/PubMed/8645161" } ] }, { "title": "Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency.", "journal": "Human molecular genetics", "date": "1996", "authors": "Dupuis L, Leon-Del-Rio A, Leclerc D, Campeau E, Sweetman L, Saudubray JM, Herman G, Gibson KM, Gravel RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371599" } ], "reference": [ { "type": "PubMed", "id": "8817339", "url": "https://glygen.org/publication/PubMed/8817339" } ] }, { "title": "Biotinidase and its roles in biotin metabolism.", "journal": "Clinica chimica acta; international journal of clinical chemistry", "date": "1996", "authors": "Hymes J, Wolf B", "evidence": [ { "database": "Reactome", "id": "R-HSA-196780", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196780" } ], "reference": [ { "type": "PubMed", "id": "8930409", "url": "https://glygen.org/publication/PubMed/8930409" } ] }, { "title": "Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.", "journal": "American journal of human genetics", "date": "1997", "authors": "Kikawa Y, Inuzuka M, Jin BY, Kaji S, Koga J, Yamamoto Y, Fujisawa K, Hata I, Nakai A, Shigematsu Y, Mizunuma H, Taketo A, Mayumi M, Sudo M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9382095", "url": "https://glygen.org/publication/PubMed/9382095" } ] }, { "title": "Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.", "journal": "FEBS letters", "date": "1997", "authors": "Gerin I, Veiga-da-Cunha M, Achouri Y, Collet JF, Van Schaftingen E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9428641", "url": "https://glygen.org/publication/PubMed/9428641" } ] }, { "title": "Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families.", "journal": "Pediatric research", "date": "1998", "authors": "Wexler ID, Kerr DS, Du Y, Kaung MM, Stephenson W, Lusk MM, Wappner RS, Higgins JJ", "evidence": [ { "database": "UniProtKB", "id": "P11498", "url": "https://www.uniprot.org/uniprot/P11498" } ], "reference": [ { "type": "PubMed", "id": "9585002", "url": "https://glygen.org/publication/PubMed/9585002" } ] }, { "title": "Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations.", "journal": "American journal of human genetics", "date": "1998", "authors": "Carbone MA, MacKay N, Ling M, Cole DE, Douglas C, Rigat B, Feigenbaum A, Clarke JT, Haworth JC, Greenberg CR, Seargeant L, Robinson BH", "evidence": [ { "database": "UniProtKB", "id": "P11498", "url": "https://www.uniprot.org/uniprot/P11498" } ], "reference": [ { "type": "PubMed", "id": "9585612", "url": "https://glygen.org/publication/PubMed/9585612" } ] }, { "title": "Identification of holocarboxylase synthetase (HCS) proteins in human placenta.", "journal": "Biochimica et biophysica acta", "date": "1998", "authors": "Hiratsuka M, Sakamoto O, Li X, Suzuki Y, Aoki Y, Narisawa K", "evidence": [ { "database": "Reactome", "id": "R-HSA-196780", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196780" } ], "reference": [ { "type": "PubMed", "id": "9630604", "url": "https://glygen.org/publication/PubMed/9630604" } ] }, { "title": "Human mitochondrial phosphoenolpyruvate carboxykinase 2 gene. 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Ic.", "journal": "American journal of human genetics", "date": "1998", "authors": "Veiga-da-Cunha M, Gerin I, Chen YT, de Barsy T, de Lonlay P, Dionisi-Vici C, Fenske CD, Lee PJ, Leonard JV, Maire I, McConkie-Rosell A, Schweitzer S, Vikkula M, Van Schaftingen E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9758626", "url": "https://glygen.org/publication/PubMed/9758626" } ] }, { "title": "Aggregation states of mitochondrial malate dehydrogenase.", "journal": "Protein science : a publication of the Protein Society", "date": "1998", "authors": "Sanchez SA, Hazlett TL, Brunet JE, Jameson DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70263" } ], "reference": [ { "type": "PubMed", "id": "9792106", "url": "https://glygen.org/publication/PubMed/9792106" } ] } ], "pathway": [ { "id": "hsa:5091", 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P11498", "url": "https://www.uniprot.org/uniprot/P11498" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "P11498", "url": "https://www.uniprot.org/uniprot/P11498" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P11498", "url": "https://www.uniprot.org/uniprot/P11498" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 216, "end_pos": 218, "annotation": "n_glycosylation_sequon" }, { "start_pos": 409, "end_pos": 411, "annotation": "n_glycosylation_sequon" }, { "start_pos": 597, "end_pos": 599, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "20844", "name": "", "equation": "ATP + hydrogencarbonate + pyruvate = ADP + H(+) + oxaloacetate + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P52873-1", "P11498-1", "Q05920-1", "P11154-1", "P32327-1", "Q0E9E2-1" ], "evidence": [ { "id": "20844", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/20844" } ] }, { "id": "R-HSA-2993802", "name": "HLCS biotinylates PC:Mn2+", "equation": "", "summary": "Biotin (Btn) acts as a coenzyme to 4 carboxylases which exist in their inactive apo forms. In the cytosol, these apo-carboxylases are biotinylated to their active halo forms by the activity of biotin-protein ligase (HCLS) (Ingaramo & Beckett 2012, Hiratsuka et al. 1998, Bailey et al. 2010). HCLS is localised to the cytosol and mitochondrion so can perform this activity in either of these locations. Defects in HLCS causes holocarboxylase synthetase deficiency (HLCS deficiency aka biotin-responsive multiple carboxylase deficiency; MIM:253270). HLCS deficiency is an autosomal recessive disorder whereby deficient HLCS activity results in reduced activity of multiple carboxylases. Symptoms include metabolic acidosis, organic aciduria, lethargy, hypotonia, convulsions and dermatitis (Suzuki et al. 2005). Pyruvate carboxylase (PC) is homotetrameric, binds 1 Mn2+ and 1 Btn per PC subunit (Xiang & Tong 2008). The exact order in which this complex is constructed is unknown.", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P50747-1", "P11498-1" ], "evidence": [ { "id": "R-HSA-2993802", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2993802" } ] }, { "id": "R-HSA-3065959", "name": "An unknown protease degrades hCBXs", "equation": "", "summary": "The mitochondrial holocarboxylases (hCBXs) propionyl-CoA carboxylase, methylcrotonoyl-CoA carboxylase and pyruvate carboxylase are degraded proteolytically to biocytin (BCTN aka biotinyl-lysine) or small biotinyl peptides (not shown here) (Chandler & Ballard 1985, Hymes & Wolf 1996, Hymes & Wolf 1999).", "cellular_location": "mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P11498-1", "Q96RQ3-1", "Q9HCC0-1", "P05165-1", "P05166-1" ], "evidence": [ { "id": "R-HSA-3065959", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3065959" } ] }, { "id": "R-HSA-3323111", "name": "Cytoslic carboxylases translocate to mitochondrial matrix", "equation": "", "summary": "Once biotinylated, three halocarboxylases (hCBXs) are localised to the mitochondrial matrix. The mechanism of transfer is still unclear. Pyruvate carboxylase (PC) is required for gluconeogenesis, lipogenesis, neurotransmitter synthesis and insulin secretion; Methylcrotonyl-CoA carboxylase (MCC) is required for amino acid metabolism; propionyl-CoA carboxylase (PCC) is required for odd-chain fatty acid oxidation (Ingaramo & Beckett 2012, Hiratsuka et al. 1998, Bailey et al. 2010).", "cellular_location": "cytosol, mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P11498-1", "Q96RQ3-1", "Q9HCC0-1", "P05165-1", "P05166-1" ], "evidence": [ { "id": "R-HSA-3323111", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3323111" } ] }, { "id": "R-HSA-70501", "name": "PC catalyzes the carboxylation of PYR to form OA", "equation": "", "summary": "Mitochondrial pyruvate carboxylase (PC) catalyzes the irreversible reaction of pyruvate (PYR), bicarbonate (HCO3-), and ATP to form oxaloacetate (OA), ADP, phosphate, (Pi) and H+. The enzyme is biotinylated and is active as a tetramer. Its structure and function have been characterized in detail (Jitrapakdee et al. 2008; Jitrapakdee & Wallace 1999), and both normal and defective forms of the human enzyme have been described (Carbone & Robinson 2003).", "cellular_location": "mitochondrial matrix", "input_participant_list": [ "R-ALL-29896", "R-ALL-113593" ], "output_participant_list": [], "enzyme_list": [ "P11498-1" ], "evidence": [ { "id": "R-HSA-70501", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70501" } ] }, { "id": "R-HSA-9035988", "name": "Defective HLCS does not biotinylate PC:Mn2+", "equation": "", "summary": "Biotin (Btn) acts as a coenzyme for 5 carboxylases that exist in their inactive apo forms. In the cytosol and mitochondrion, these apo carboxylases (apo-CBXs) are biotinylated to their active holo forms by the activity of biotin protein ligase (HCLS) (Ingaramo & Beckett 2012, Bailey et al. 2010, Hiratsuka et al. 1998). Homotetrameric pyruvate carboxylase (PC) with its manganese cofactor (4xPC:Mn2+) is shown here. Defects in HLCS causes holocarboxylase synthetase deficiency (HLCS deficiency aka early-onset multiple carboxylase deficiency; MIM:253270). HLCS deficiency is an autosomal recessive disorder whereby deficient HLCS activity results in reduced activity of all 5 carboxylases. Symptoms include metabolic acidosis, organic aciduria, lethargy, hypotonia, convulsions and dermatitis. Mutations in HCLS associated with HLCS deficiency include the compound heterozygote G261Vfs*20/L237P, D571N, R508W, G581S, V550M and L216R (Suzuki et al. 1994, Yang et al. 2000, Dupuis et al. 1996, Aoki et al, 1999, Yang et al. 2001, Morrone et al. 2002).
", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P50747-1", "P11498-1" ], "evidence": [ { "id": "R-HSA-9035988", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9035988" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-113593", "participant_name": "ATP [mitochondrial matrix]", "crossref": [ { "id": "C00002", "database": "COMPOUND", "url": "" }, { "id": "30616", "database": "ChEBI", "url": "" }, { "id": "000004261765", "database": "ZINC", "url": "" }, { "id": "C00002", "database": "COMPOUND", "url": "" }, { "id": "30616", "database": "ChEBI", "url": "" }, { "id": "000004261765", "database": "ZINC", "url": "" }, { "id": "000004261765", "database": "ZINC", "url": "" }, { "id": "C00002", "database": "COMPOUND", "url": "" }, { "id": "30616", "database": "ChEBI", "url": "" }, { "id": "000004261765", "database": "ZINC", "url": "" }, { "id": "C00002", "database": "COMPOUND", "url": "" }, { "id": "30616", "database": "ChEBI", "url": "" }, { "id": "C00002", "database": "COMPOUND", "url": "" }, { "id": "30616", "database": "ChEBI", "url": "" }, { "id": "000004261765", "database": "ZINC", "url": "" }, { "id": "C00002", "database": "COMPOUND", "url": "" }, { "id": "30616", "database": "ChEBI", "url": "" }, { "id": "000004261765", "database": "ZINC", "url": "" }, { "id": "C00002", "database": "COMPOUND", "url": "" }, { "id": "30616", "database": "ChEBI", "url": "" }, { "id": "000004261765", "database": "ZINC", "url": "" } ] }, { "participant_id": "R-ALL-29896", "participant_name": "HCO3- [mitochondrial matrix]", "crossref": [ { "id": "C00288", "database": "COMPOUND", "url": "" }, { "id": "17544", "database": "ChEBI", "url": "" }, { "id": "000006827693", "database": "ZINC", "url": "" }, { "id": "11533114", "database": "PubChem Substance", "url": "" }, { "id": "C00288", "database": "COMPOUND", "url": "" }, { "id": "17544", "database": "ChEBI", "url": "" }, { "id": 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"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": "P11154", "gene_name": "PYC1", "activity": [ { "ec_number": "6.4.1.1", "activity": "ATP + hydrogencarbonate + pyruvate = ADP + H(+) + oxaloacetate + phosphate.", "evidence": [ { "id": "P11154", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11154" } ] }, { "ec_number": "6.4.1.1", "activity": "", "evidence": [ { "id": "P11154", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11154" } ] } ] }, { "uniprot_ac": "P11498", "gene_name": "PC", "activity": [ { "ec_number": "6.4.1.1", "activity": "ATP + hydrogencarbonate + pyruvate = ADP + H(+) + oxaloacetate + phosphate.", "evidence": [ { "id": "P11498", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11498" } ] }, { "ec_number": "6.4.1.1", "activity": "", "evidence": [ { "id": "P11498", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11498" } ] } ] }, { "uniprot_ac": "P32327", "gene_name": "PYC2", "activity": [ { "ec_number": "6.4.1.1", "activity": "ATP + hydrogencarbonate + pyruvate = ADP + H(+) + oxaloacetate + phosphate.", "evidence": [ { "id": "P32327", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32327" } ] }, { "ec_number": "6.4.1.1", "activity": "", "evidence": [ { "id": "P32327", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32327" } ] } ] }, { "uniprot_ac": "P50747", "gene_name": "HLCS", "activity": [ { "ec_number": "6.3.4.-", "activity": "", "evidence": [ { "id": "P50747", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50747" } ] }, { "ec_number": "6.3.4.15", "activity": "ATP + biotin + L-lysyl-[protein] = AMP + diphosphate + H(+) + N(6)-biotinyl-L-lysyl-[protein].", "evidence": [ { "id": "P50747", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50747" } ] }, { "ec_number": "6.3.4.10", "activity": "apo-[propionyl-CoA:carbon-dioxide ligase (ADP-forming)] + ATP + biotin = AMP + diphosphate + H(+) + holo-[propionyl-CoA:carbon-dioxide ligase (ADP-forming)].", "evidence": [ { "id": "P50747", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50747" } ] }, { "ec_number": "6.3.4.9", "activity": "apo-[methylmalonyl-CoA:pyruvate carboxytransferase] + ATP + biotin = AMP + diphosphate + H(+) + holo-[methylmalonyl-CoA:pyruvate carboxytransferase].", "evidence": [ { "id": "P50747", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50747" } ] }, { "ec_number": "6.3.4.11", "activity": "apo-[3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)] + ATP + biotin = AMP + diphosphate + H(+) + holo-[3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)].", "evidence": [ { "id": "P50747", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50747" } ] } ] }, { "uniprot_ac": "P52873", "gene_name": "Pc", "activity": [ { "ec_number": "6.4.1.1", "activity": "ATP + hydrogencarbonate + pyruvate = ADP + H(+) + oxaloacetate + phosphate.", "evidence": [ { "id": "P52873", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52873" } ] }, { "ec_number": "6.4.1.1", "activity": "", "evidence": [ { "id": "P52873", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52873" } ] } ] }, { "uniprot_ac": "Q05920", "gene_name": "Pc", "activity": [ { "ec_number": "6.4.1.1", "activity": "ATP + hydrogencarbonate + pyruvate = ADP + H(+) + oxaloacetate + phosphate.", "evidence": [ { "id": "Q05920", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q05920" } ] }, { "ec_number": "6.4.1.1", "activity": "", "evidence": [ { "id": "Q05920", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q05920" } ] } ] }, { "uniprot_ac": "Q0E9E2", "gene_name": "PCB", "activity": [ { "ec_number": "6.4.1.1", "activity": "ATP + 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